P01023/C972Y "Disease mutation",allele=2_18118,dbSNP=rs1800433,"Chronic obstructive pulmonary disease"
P01023/V1000I "Disease mutation",allele=2_18119,dbSNP=rs669,"Alzheimer disease, association with"
Q9NPC4/C96Y "Disease mutation",allele=53947_1850,dbSNP=NULL,"Pk synthase deficiency (p phenotype)"
Q9NPC4/S100L "Disease mutation",allele=53947_1852,dbSNP=NULL,"Pk synthase deficiency (p phenotype)"
Q9NPC4/M183K "Disease mutation",allele=53947_1854,dbSNP=rs74315453,"Pk synthase deficiency (p phenotype)"
Q9NPC4/A219V "Disease mutation",allele=53947_1856,dbSNP=NULL,"Pk synthase deficiency (p phenotype)"
Q9NRG9/Q15K "Disease mutation",allele=8086_5606,dbSNP=rs121918549,"Triple-A syndrome"
Q9NRG9/S263P "Disease mutation",allele=8086_5619,dbSNP=rs121918550,"Triple-A syndrome"
Q9NRG9/L381R "Disease mutation",allele=8086_5627,dbSNP=NULL,"Triple-A syndrome"
Q9NRG9/L430F "Disease mutation",allele=8086_5629,dbSNP=rs121918551,"Axonal neuropathy"
Q16613/A129T "Disease mutation",allele=15_22963,dbSNP=rs28936679,"Delayed sleep phase syndrome, association with"
Q16613/T3M "Non-disease variant",allele=15_900207,dbSNP=rs61739395,"NULL"
P80404/R220K "Disease mutation",allele=18_13737,dbSNP=rs121434578,"GABA-transaminase deficiency"
Q96J66/G180R "Disease mutation",allele=85320_17257,dbSNP=rs17822931,"Earwax type, assoc. with"
Q9H221/Y54C "Disease mutation",allele=64241_27685,dbSNP=rs4148211,"Smaller decline in cholesterol synthesis after weight loss, assoc"
Q9H221/P231T "Disease mutation",allele=64241_27692,dbSNP=rs137852993,"Sitosterolaemia"
Q9H221/E423D "Disease mutation",allele=64241_27698,dbSNP=NULL,"Sitosterolaemia"
Q9H221/A632V "Disease mutation",allele=64241_27707,dbSNP=rs6544718,"Incr. serum cholesterol, in low-chol. consumers, assoc. with"
Q8WTS1/E7K "Disease mutation",allele=51099_780,dbSNP=rs104893676,"Chanarin-Dorfman syndrome"
Q8WTS1/H82R "Disease mutation",allele=51099_782,dbSNP=NULL,"Chanarin-Dorfman syndrome"
Q8WTS1/S115G "Disease mutation",allele=51099_783,dbSNP=NULL,"Chanarin-Dorfman syndrome"
Q8WTS1/E260K "Disease mutation",allele=51099_789,dbSNP=rs28939078,"Chanarin-Dorfman syndrome"
P11310/A52V "Disease mutation",allele=34_10090,dbSNP=NULL,"Medium chain acyl CoA dehydrogenase deficiency"
P11310/R206C "Disease mutation",allele=34_10117,dbSNP=NULL,"Medium chain acyl CoA dehydrogenase deficiency"
P11310/M274V "Disease mutation",allele=34_10129,dbSNP=NULL,"Medium chain acyl CoA dehydrogenase deficiency"
P11310/K329E "Disease mutation",allele=34_10136,dbSNP=rs77931234,"Medium chain acyl CoA dehydrogenase deficiency"
P16219/R46W "Disease mutation",allele=35_20929,dbSNP=rs121908003,"Acyl-CoA-dehydrogenase deficiency"
P16219/W177R "Disease mutation",allele=35_20942,dbSNP=rs57443665,"Acyl-CoA-dehydrogenase deficiency"
P16219/G274S "Disease mutation",allele=35_20947,dbSNP=rs139178751,"Acyl-CoA-dehydrogenase deficiency"
P45954/T148I "Disease mutation",allele=36_4140,dbSNP=rs58639322,"2-Methylbutyryl-CoA dehydrogenase deficiency"
P45954/L255F "Disease mutation",allele=36_4141,dbSNP=rs137852649,"2-Methylbutyryl-CoA dehydrogenase deficiency"
P45954/Y283C "Disease mutation",allele=36_4142,dbSNP=rs201035053,"2-Methylbutyryl-CoA dehydrogenase deficiency"
P45954/E387K "Disease mutation",allele=36_4145,dbSNP=rs188094280,"2-Methylbutyryl-CoA dehydrogenase deficiency"
P24752/Q73P "Disease mutation",allele=38_16884,dbSNP=NULL,"Acetoacetyl-CoA-thiolase deficiency"
P24752/N93S "Disease mutation",allele=38_16885,dbSNP=rs120074145,"Acetoacetyl-CoA-thiolase deficiency"
P24752/A127V "Disease mutation",allele=38_16887,dbSNP=NULL,"Acetoacetyl-CoA-thiolase deficiency"
P24752/A132G "Disease mutation",allele=38_16888,dbSNP=NULL,"Acetoacetyl-CoA-thiolase deficiency"
Q9BWD1/I254T "Disease mutation",allele=39_8806,dbSNP=NULL,"Plasma lipids, assoc. with ?"
Q15067/G178C "Disease mutation",allele=51_11828,dbSNP=rs118204091,"Peroxisomal acyl-CoA oxidase deficiency"
Q15067/M278V "Disease mutation",allele=51_11831,dbSNP=rs118204090,"Peroxisomal acyl-CoA oxidase deficiency"
Q15067/Q309R "Disease mutation",allele=51_11833,dbSNP=rs118204092,"Peroxisomal acyl-CoA oxidase deficiency"
Q53FZ2/K367N "Disease mutation",allele=6296_7935,dbSNP=rs5716,"Hypertension, association with"
P62736/R39H "Disease mutation",allele=59_376,dbSNP=NULL,"Thoracic aortic disease, coronary artery disease & strokes"
P62736/N117T "Disease mutation",allele=59_378,dbSNP=NULL,"Thoracic aortic aneurysms & dissections"
P62736/R212Q "Disease mutation",allele=59_385,dbSNP=NULL,"Thoracic aortic disease, coronary artery disease & strokes"
P62736/R292G "Disease mutation",allele=59_390,dbSNP=NULL,"Thoracic aortic aneurysms & dissections"
P60709/R183W "Disease mutation",allele=60_12760,dbSNP=rs104894003,"Developmental malformations, sensory hearing loss & dystonia"
P60709/E364K "Disease mutation",allele=60_12761,dbSNP=NULL,"Neutrophil dysfunction and recurrent infection"
P68032/H90Y "Disease mutation",allele=70_12040,dbSNP=rs121912676,"Cardiomyopathy, hypertrophic"
P68032/P166A "Disease mutation",allele=70_12044,dbSNP=rs267606628,"Cardiomyopathy, hypertrophic"
P68032/S273F "Disease mutation",allele=70_12047,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P68032/R314H "Disease mutation",allele=70_12051,dbSNP=rs121912673,"Cardiomyopathy, dilated"
P63261/T89I "Disease mutation",allele=71_20917,dbSNP=rs28999111,"Deafness, dominant progressive"
P63261/I122V "Disease mutation",allele=71_20919,dbSNP=rs281875330,"Deafness, dominant progressive"
P63261/P264L "Disease mutation",allele=71_20920,dbSNP=rs104894546,"Deafness, dominant progressive"
P63261/P332A "Disease mutation",allele=71_20922,dbSNP=rs104894545,"Deafness, dominant progressive"
P35609/Q9R "Disease mutation",allele=88_19478,dbSNP=rs121434525,"Cardiomyopathy, dilated"
P35609/D475N "Non-disease variant",allele=88_900205,dbSNP=rs80257412,"NULL"
P35609/M604V "Non-disease variant",allele=88_900208,dbSNP=rs35997569,"NULL"
O43707/W59R "Disease mutation",allele=81_9354,dbSNP=NULL,"Glomerulosclerosis, focal and segmental"
O43707/K255E "Disease mutation",allele=81_9355,dbSNP=rs28939374,"Glomerulosclerosis, focal and segmental"
O43707/T259I "Disease mutation",allele=81_9356,dbSNP=rs28939375,"Glomerulosclerosis, focal and segmental"
O43707/S262P "Disease mutation",allele=81_9357,dbSNP=rs28939376,"Glomerulosclerosis, focal and segmental"
Q04771/R206H "Disease mutation",allele=90_17628,dbSNP=rs121912678,"Fibrodysplasia ossificans progressiva"
Q04771/Q207E "Disease mutation",allele=90_17629,dbSNP=NULL,"Fibrodysplasia ossificans progressiva"
Q04771/G328R "Disease mutation",allele=90_17633,dbSNP=NULL,"Fibrodysplasia ossificans progressiva"
Q04771/R375P "Disease mutation",allele=90_17636,dbSNP=NULL,"Fibrodysplasia ossificans progressiva"
Q13705/R40H "Disease mutation",allele=93_32896,dbSNP=rs121434437,"Left-right axis malformation"
Q13705/V494I "Disease mutation",allele=93_32897,dbSNP=rs121434438,"Left-right axis malformation"
P37023/G48E "Disease mutation",allele=94_18710,dbSNP=rs267606632,"Haemorrhagic telangiectasia 2"
P37023/E215K "Disease mutation",allele=94_18745,dbSNP=NULL,"Haemorrhagic telangiectasia 2"
P37023/M376R "Disease mutation",allele=94_18806,dbSNP=rs28936399,"Haemorrhagic telangiectasia 2"
P37023/P449L "Disease mutation",allele=94_18845,dbSNP=NULL,"Haemorrhagic telangiectasia 2"
Q03154/R197W "Disease mutation",allele=95_7066,dbSNP=rs121912700,"Aminoacylase I deficiency"
Q03154/E233D "Disease mutation",allele=95_7067,dbSNP=rs121912699,"Aminoacylase I deficiency"
Q03154/R353C "Disease mutation",allele=95_7068,dbSNP=rs121912698,"Aminoacylase I deficiency?"
Q03154/R393H "Disease mutation",allele=95_7069,dbSNP=rs121912701,"Aminoacylase I deficiency"
P00813/K80R "Disease mutation",allele=100_8997,dbSNP=NULL,"Adenosine deaminase deficiency"
P00813/R101Q "Disease mutation",allele=100_9001,dbSNP=rs28930970,"Adenosine deaminase deficiency"
P00813/Q199P "Disease mutation",allele=100_9019,dbSNP=rs121908734,"Adenosine deaminase deficiency"
P00813/P297Q "Disease mutation",allele=100_9032,dbSNP=rs121908718,"Adenosine deaminase deficiency"
Q8NI60/R213W "Disease mutation",allele=56997_7775,dbSNP=rs119468005,"Ubiquinone deficiency with cerebellar ataxia"
Q8NI60/G272V "Disease mutation",allele=56997_7777,dbSNP=rs119468006,"Ubiquinone deficiency with cerebellar ataxia"
Q8NI60/Y514C "Disease mutation",allele=56997_7778,dbSNP=rs119468008,"Ubiquinone deficiency with cerebellar ataxia"
Q8NI60/E551K "Disease mutation",allele=56997_7780,dbSNP=rs119468004,"Ubiquinone deficiency with cerebellar ataxia"
Q8NI60/H85Q "Non-disease variant",allele=56997_900203,dbSNP=rs2297411,"NULL"
Q8NI60/H80Y "Non-disease variant",allele=56997_900212,dbSNP=rs76249490,"NULL"
O60503/I772M "Disease mutation",allele=115_33288,dbSNP=rs2230739,"Lower activity, association with"
P00326/R272Q "Disease mutation",allele=126_23552,dbSNP=rs1693482,"Alcohol dehydrogenase gamma variant"
P00326/I350V "Disease mutation",allele=126_23553,dbSNP=rs698,"Alcoholism, increased risk, association with ?"
Q15848/G15G "Disease mutation",allele=9370_31129,dbSNP=rs2241766,"Diabetes, type 2, association with"
Q15848/Y111H "Disease mutation",allele=9370_31131,dbSNP=rs17366743,"Diabetes mellitus, type 2, association with"
Q15848/R112C "Disease mutation",allele=9370_31132,dbSNP=rs121917815,"Adiponectin deficiency"
Q15848/I164T "Disease mutation",allele=9370_31133,dbSNP=rs185847354,"Diabetes mellitus, type 2, association with"
P33765/I248L "Disease mutation",allele=140_17084,dbSNP=rs35511654,"Ischaemic cardiomyopathy, infarct size, association with"
P07550/A119D "Disease mutation",allele=154_23432,dbSNP=NULL,"Eczema, atopic"
P07550/T164I "Disease mutation",allele=154_23433,dbSNP=rs1800888,"Heart failure, poor survival, association with"
P20933/G60D "Disease mutation",allele=175_1665,dbSNP=rs121964907,"Aspartylglucosaminuria"
P20933/G302R "Disease mutation",allele=175_1678,dbSNP=rs121964905,"Aspartylglucosaminuria"
Q15109/G82S "Disease mutation",allele=177_21371,dbSNP=rs2070600,"Microangiopathy in type 2 diabetes, association"
P35573/R524H "Disease mutation",allele=178_24090,dbSNP=NULL,"Glycogen storage disease 3"
O15120/A239V "Disease mutation",allele=10555_10910,dbSNP=rs145975461,"Berardinelli-Seip lipodystrophy"
O00253/A67T "Disease mutation",allele=181_24303,dbSNP=rs5030980,"Obesity, late-onset, association with"
P01019/L43F "Disease mutation",allele=183_5221,dbSNP=rs41271499,"Preeclampsia"
P01019/T207M "Disease mutation",allele=183_5224,dbSNP=rs4762,"Hypertension, association with"
P01019/Y281C "Disease mutation",allele=183_5228,dbSNP=rs56073403,"Hypertension"
P01019/R375Q "Disease mutation",allele=183_5229,dbSNP=rs74315283,"Renal tubular dysgenesis"
P30556/G45R "Disease mutation",allele=185_23494,dbSNP=NULL,"Reduced function, association with"
P30556/F204S "Disease mutation",allele=185_23495,dbSNP=NULL,"Reduced function, association with"
P30556/T282M "Disease mutation",allele=185_23496,dbSNP=rs104893677,"Renal tubular dysgenesis"
P30556/C289W "Disease mutation",allele=185_23497,dbSNP=rs1064533,"Reduced function, association with"
P21549/P11L "Disease mutation",allele=189_34545,dbSNP=rs34116584,"Hyperoxaluria, association with"
P21549/S187F "Disease mutation",allele=189_34575,dbSNP=rs180177238,"Hyperoxaluria"
P21549/R233L "Disease mutation",allele=189_34586,dbSNP=rs121908527,"Hyperoxaluria"
P21549/V336D "Disease mutation",allele=189_34601,dbSNP=rs180177155,"Hyperoxaluria"
P23526/R49C "Disease mutation",allele=191_10862,dbSNP=NULL,"S-adenosylhomocysteine hydrolase deficiency"
P23526/D86G "Disease mutation",allele=191_10863,dbSNP=NULL,"S-adenosylhomocysteine hydrolase deficiency"
P23526/A89V "Disease mutation",allele=191_10864,dbSNP=NULL,"S-adenosylhomocysteine hydrolase deficiency"
P23526/Y143C "Disease mutation",allele=191_10866,dbSNP=rs121918608,"S-adenosylhomocysteine hydrolase deficiency"
P02765/T248M "Disease mutation",allele=197_22499,dbSNP=rs4917,"Leanness, association with"
P02765/T256S "Disease mutation",allele=197_22500,dbSNP=rs4918,"Leanness, association with"
Q9NZN9/M79T "Disease mutation",allele=23746_12744,dbSNP=rs62653017,"Leber congenital amaurosis IV"
Q9NZN9/T114I "Disease mutation",allele=23746_12749,dbSNP=rs8069375,"Leber congenital amaurosis IV"
Q9NZN9/R270H "Disease mutation",allele=23746_12756,dbSNP=NULL,"Leber congenital amaurosis IV"
Q9NZN9/R302L "Disease mutation",allele=23746_12758,dbSNP=rs62637015,"Leber congenital amaurosis IV"
P54819/R103W "Disease mutation",allele=204_12127,dbSNP=rs267606648,"Reticular dysgenesia"
P54819/D165G "Disease mutation",allele=204_12128,dbSNP=rs267606643,"Reticular dysgenesia"
P54819/R186C "Disease mutation",allele=204_12129,dbSNP=rs267606645,"Reticular dysgenesia"
P42330/H5Q "Disease mutation",allele=8644_13426,dbSNP=rs12529,"Lung cancer, increased risk, association with"
P17516/L311V "Disease mutation",allele=1109_21501,dbSNP=rs17134592,"Reduced activity, association with"
P51857/L106F "Disease mutation",allele=6718_28820,dbSNP=rs121918343,"Cholestatic liver disease in infancy"
P51857/P133R "Disease mutation",allele=6718_28821,dbSNP=rs267606649,"Cholestatic liver disease in infancy"
P51857/P198L "Disease mutation",allele=6718_28822,dbSNP=rs121918342,"Cholestatic liver disease in infancy"
P51857/R261C "Disease mutation",allele=6718_28823,dbSNP=rs267606650,"Cholestatic liver disease in infancy"
O95154/D215N "Disease mutation",allele=22977_15213,dbSNP=rs1738023,"Leukemia, risk, association with"
P31749/E242E "Disease mutation",allele=207_9883,dbSNP=rs1130233,"Schizophrenia, familial, association with"
P31751/R274H "Disease mutation",allele=208_32043,dbSNP=rs121434593,"Severe insulin resistance and diabetes mellitus"
P22557/R170H "Disease mutation",allele=212_15642,dbSNP=NULL,"Sideroblastic anaemia"
P22557/I289T "Disease mutation",allele=212_15648,dbSNP=NULL,"Sideroblastic anaemia"
P22557/R448Q "Disease mutation",allele=212_15657,dbSNP=NULL,"Sideroblastic anaemia"
P22557/I476N "Disease mutation",allele=212_15661,dbSNP=rs137852299,"Sideroblastic anaemia"
P51648/P121L "Disease mutation",allele=224_5578,dbSNP=rs72547560,"Sjoegren-Larsson syndrome"
P51648/C214Y "Disease mutation",allele=224_5584,dbSNP=rs72547564,"Sjoegren-Larsson syndrome"
P51648/Y279N "Disease mutation",allele=224_5590,dbSNP=rs72547570,"Sjoegren-Larsson syndrome"
P51648/S415N "Disease mutation",allele=224_5600,dbSNP=NULL,"Sjoegren-Larsson syndrome"
P30038/S352L "Disease mutation",allele=8659_9766,dbSNP=rs137852937,"Hyperprolinaemia 2"
Q02252/G446R "Disease mutation",allele=4329_7418,dbSNP=rs72552258,"MMSDH deficiency"
P04075/D129G "Disease mutation",allele=226_708,dbSNP=rs121909533,"Aldolase A deficiency"
P04075/E207K "Disease mutation",allele=226_709,dbSNP=rs121909534,"Metabolic myopathy / haemolysis"
P04075/C339Y "Disease mutation",allele=226_711,dbSNP=NULL,"Aldolase A deficiency"
P05062/R57P "Disease mutation",allele=229_21956,dbSNP=NULL,"Fructose intolerance"
P05062/A150P "Disease mutation",allele=229_21963,dbSNP=rs1800546,"Aldolase B deficiency"
P05062/V222F "Disease mutation",allele=229_21970,dbSNP=NULL,"Fructose intolerance"
P05062/A280D "Disease mutation",allele=229_21974,dbSNP=NULL,"Fructose intolerance"
Q9BV10/T67M "Disease mutation",allele=79087_5735,dbSNP=rs121907931,"Congenital disorder of glycosylation 1g"
Q9BV10/F142V "Disease mutation",allele=79087_5736,dbSNP=rs28942090,"Congenital disorder of glycosylation 1g"
Q9BV10/R146Q "Disease mutation",allele=79087_5737,dbSNP=rs121907932,"Congenital disorder of glycosylation 1g"
Q9BV10/R311C "Disease mutation",allele=79087_5741,dbSNP=NULL,"Congenital disorder of glycosylation 1g"
Q92685/G118D "Disease mutation",allele=10195_7992,dbSNP=rs28940588,"Congenital disorder of glycosylation 1d"
Q92685/M157K "Disease mutation",allele=10195_7993,dbSNP=rs119103238,"Congenital disorder of glycosylation 1d"
Q92685/R266C "Disease mutation",allele=10195_7994,dbSNP=NULL,"Congenital disorder of glycosylation 1d"
Q9Y672/R113H "Disease mutation",allele=29929_2905,dbSNP=NULL,"Congenital disorder of glycosylation 1c"
Q9Y672/G227E "Disease mutation",allele=29929_2908,dbSNP=NULL,"Congenital disorder of glycosylation 1c"
Q9Y672/A333V "Disease mutation",allele=29929_2911,dbSNP=rs121908443,"Congenital disorder of glycosylation 1c"
Q9BVK2/T47P "Disease mutation",allele=79053_11053,dbSNP=rs121908293,"Congenital disorder of glycosylation 1h"
Q9BVK2/G275D "Disease mutation",allele=79053_11054,dbSNP=rs121908294,"Congenital disorder of glycosylation 1h"
Q9BVK2/N222S "Non-disease variant",allele=79053_900220,dbSNP=rs665278,"NULL"
Q9BVK2/I439T "Non-disease variant",allele=79053_900234,dbSNP=rs17825668,"NULL"
P16050/T560M "Disease mutation",allele=246_15670,dbSNP=rs34210653,"Coronary artery disease, assoc. with"
P09917/E254K "Disease mutation",allele=240_28873,dbSNP=rs2228065,"Bronchial asthma, association with"
Q9BYJ1/G281V "Disease mutation",allele=59344_31238,dbSNP=NULL,"Ichthyosis, congenital, autosomal recessive"
Q9BYJ1/R396S "Disease mutation",allele=59344_31239,dbSNP=rs121434234,"Ichthyosiform erythroderma, nonbullous 1"
Q9BYJ1/V500F "Disease mutation",allele=59344_31240,dbSNP=rs121434232,"Ichthyosiform erythroderma, nonbullous 1"
Q9BYJ1/P630L "Disease mutation",allele=59344_31242,dbSNP=rs147149459,"Ichthyosis, congenital, autosomal recessive"
P05186/T100M "Disease mutation",allele=249_28094,dbSNP=NULL,"Hypophosphatasia"
P05186/A179T "Disease mutation",allele=249_28123,dbSNP=rs121918000,"Hypophosphatasia"
P05186/A377V "Disease mutation",allele=249_28184,dbSNP=NULL,"Hypophosphatasia"
Q16671/R54C "Disease mutation",allele=269_28385,dbSNP=NULL,"Persistent Mullerian ducts syndrome"
Q16671/H282Q "Disease mutation",allele=269_28389,dbSNP=NULL,"Persistent Mullerian ducts syndrome"
Q16671/D426G "Disease mutation",allele=269_28390,dbSNP=NULL,"Persistent Mullerian ducts syndrome"
Q16671/D491H "Disease mutation",allele=269_28392,dbSNP=NULL,"Persistent Mullerian ducts syndrome"
Q01432/N310K "Disease mutation",allele=272_28356,dbSNP=NULL,"Adenosine monophosphate deaminase deficiency"
Q01432/A320V "Disease mutation",allele=272_28358,dbSNP=rs147542803,"Adenosine monophosphate deaminase deficiency"
Q01432/W450R "Disease mutation",allele=272_28363,dbSNP=NULL,"Adenosine monophosphate deaminase deficiency"
Q01432/P585L "Disease mutation",allele=272_28365,dbSNP=NULL,"Adenosine monophosphate deaminase deficiency"
P48728/N145I "Disease mutation",allele=275_9645,dbSNP=NULL,"Hyperglycinaemia, non-ketotic"
P48728/V212A "Disease mutation",allele=275_9648,dbSNP=rs201141125,"Hyperglycinaemia, non-ketotic"
P48728/G269D "Disease mutation",allele=275_9650,dbSNP=rs121964981,"Hyperglycinaemia, non-ketotic"
P48728/R320H "Disease mutation",allele=275_9653,dbSNP=rs121964985,"Hyperglycinaemia, non-ketotic"
P03950/Q36L "Disease mutation",allele=283_22375,dbSNP=rs121909535,"Amyotrophic lateral sclerosis"
P03950/K64I "Disease mutation",allele=283_22381,dbSNP=rs121909540,"Amyotrophic lateral sclerosis"
P03950/G110G "Disease mutation",allele=283_22384,dbSNP=rs11701,"Amyotrophic lateral sclerosis, association with"
P03950/P136L "Disease mutation",allele=283_22385,dbSNP=rs121909543,"Amyotrophic lateral sclerosis"
Q9Y5C1/D41N "Disease mutation",allele=27329_22168,dbSNP=NULL,"Higher plasma triglyceride level"
Q9Y5C1/L164F "Disease mutation",allele=27329_22172,dbSNP=NULL,"Lower plasma triglyceride level ?"
Q9Y5C1/R288Q "Disease mutation",allele=27329_22173,dbSNP=NULL,"Lower plasma triglyceride level "
Q9Y5C1/Y417C "Disease mutation",allele=27329_22174,dbSNP=NULL,"Lower plasma triglyceride level ?"
Q9BY76/E40K "Disease mutation",allele=51129_20908,dbSNP=rs116843064,"Lower plasma triglyceride level, association with"
Q9BY76/G77R "Disease mutation",allele=51129_20909,dbSNP=NULL,"Lower plasma triglyceride level"
Q9BY76/G223R "Disease mutation",allele=51129_20910,dbSNP=NULL,"Lower plasma triglyceride level "
Q9BY76/G361S "Disease mutation",allele=51129_20914,dbSNP=NULL,"Lower plasma triglyceride level "
Q15327/T116M "Disease mutation",allele=27063_14058,dbSNP=rs142354133,"Total anomalous pulmonary venous return"
P58335/Y381C "Disease mutation",allele=118429_22447,dbSNP=rs137852901,"Fibromatosis, juvenile hyaline"
P58335/V386F "Disease mutation",allele=118429_22449,dbSNP=NULL,"Fibromatosis, juvenile hyaline"
P58335/V394A "Disease mutation",allele=118429_22450,dbSNP=NULL,"Fibromatosis, juvenile hyaline"
P50995/R230C "Disease mutation",allele=311_9654,dbSNP=rs1049550,"Colorectal cancer, increased risk, assoc. with"
P28039/D28N "Disease mutation",allele=313_15430,dbSNP=rs11976480,"Colorectal cancer, increased risk, assoc. with"
O95704/T318T "Disease mutation",allele=10307_32492,dbSNP=rs1800882,"Alzheimer disease, early-onset, decr. risk, assoc."
P27695/Q51H "Disease mutation",allele=328_7076,dbSNP=rs1048945,"Colorectal adenoma, association with ?"
P27695/L104R "Disease mutation",allele=328_7077,dbSNP=NULL,"Amyotrophic lateral sclerosis"
P27695/E126D "Disease mutation",allele=328_7078,dbSNP=NULL,"Amyotrophic lateral sclerosis"
P27695/G306A "Disease mutation",allele=328_7081,dbSNP=NULL,"Amyotrophic lateral sclerosis"
P02647/R34L "Disease mutation",allele=335_10211,dbSNP=rs28929476,"Apolipoprotein A1 deficiency"
P02647/E144D "Disease mutation",allele=335_10221,dbSNP=NULL,"Apolipoprotein A1 deficiency"
P02655/K41T "Disease mutation",allele=344_10152,dbSNP=rs120074114,"Apolipoprotein C2 deficiency"
P02655/W48R "Disease mutation",allele=344_10153,dbSNP=rs120074115,"Apolipoprotein C2 deficiency"
P02655/E60K "Disease mutation",allele=344_10156,dbSNP=rs5122,"Apolipoprotein C2 deficiency"
P02655/L94P "Disease mutation",allele=344_10159,dbSNP=NULL,"Chylomicronemia syndrome"
P02656/Q58K "Disease mutation",allele=345_15564,dbSNP=NULL,"Hypertriglyceridaemia"
P02656/D65N "Disease mutation",allele=345_15565,dbSNP=rs149707394,"Apolipoprotein C3 variant"
P02656/T94A "Disease mutation",allele=345_15567,dbSNP=rs121918381,"Apolipoprotein C3 deficiency"
P55056/L96R "Disease mutation",allele=346_34753,dbSNP=rs5167,"Leukemia, risk, assoc. with ?"
P05090/F56V "Disease mutation",allele=347_8607,dbSNP=rs144811342,"Decr. HDL3-C and apoA-I level in females, assoc."
P05090/T178K "Disease mutation",allele=347_8608,dbSNP=rs5955,"Incr. triglyceride level in males, association"
P02749/C325G "Disease mutation",allele=350_21932,dbSNP=rs1801689,"Apolipoprotein H deficiency, association with"
P02749/W335S "Disease mutation",allele=350_21933,dbSNP=rs1801690,"Apolipoprotein H deficiency, association with"
P07741/R67Q "Disease mutation",allele=353_25174,dbSNP=NULL,"Adenine phosphoribosyltransferase deficiency"
P07741/V84M "Disease mutation",allele=353_25175,dbSNP=rs200392753,"Adenine phosphoribosyltransferase deficiency"
P07741/M136T "Disease mutation",allele=353_25181,dbSNP=rs28999113,"Adenine phosphoribosyltransferase deficiency"
P07741/V150F "Disease mutation",allele=353_25182,dbSNP=rs281860266,"Adenine phosphoribosyltransferase deficiency"
Q7Z2E3/A198V "Disease mutation",allele=54840_30201,dbSNP=NULL,"Ataxia-ocular apraxia 1"
Q7Z2E3/H228R "Disease mutation",allele=54840_30204,dbSNP=NULL,"Ataxia-ocular apraxia"
Q7Z2E3/V263G "Disease mutation",allele=54840_30209,dbSNP=rs121908132,"Ataxia-ocular apraxia 1"
P29972/P38L "Disease mutation",allele=358_2398,dbSNP=rs104894004,"Channel-forming integral protein deficiency"
P29972/Q47R "Disease mutation",allele=358_2400,dbSNP=NULL,"Colton blood group variant"
P29972/N192K "Disease mutation",allele=358_2401,dbSNP=NULL,"Colton-null blood group variant"
P41181/G64R "Disease mutation",allele=359_18674,dbSNP=rs104894326,"Diabetes insipidus, nephrogenic"
P41181/T126M "Disease mutation",allele=359_18683,dbSNP=rs104894330,"Diabetes insipidus, nephrogenic"
P41181/R187H "Disease mutation",allele=359_18692,dbSNP=rs193922495,"Diabetes insipidus, nephrogenic"
P41181/E258K "Disease mutation",allele=359_18700,dbSNP=rs104894332,"Diabetes insipidus, nephrogenic"
P55087/I128T "Disease mutation",allele=361_21363,dbSNP=rs61731042,"Reduced water permeability, association with"
P55087/D184E "Disease mutation",allele=361_21364,dbSNP=rs61731038,"Reduced water permeability, association with"
P55087/M224T "Disease mutation",allele=361_21366,dbSNP=rs72557975,"Reduced water permeability, association with"
P55087/M278T "Disease mutation",allele=361_21367,dbSNP=rs3906956,"Increased water permeability, association with"
P05089/I11T "Disease mutation",allele=383_21267,dbSNP=rs28941474,"Arginase deficiency"
P05089/D128G "Disease mutation",allele=383_21271,dbSNP=rs140549609,"Hyperargininaemia"
P05089/G235R "Disease mutation",allele=383_21275,dbSNP=rs104893948,"Arginase deficiency"
P05089/T290S "Disease mutation",allele=383_21276,dbSNP=rs104893942,"Hyperargininaemia"
O15013/T332I "Disease mutation",allele=9639_23969,dbSNP=rs28940281,"Slowed nerve conduction velocities"
O43307/G55A "Disease mutation",allele=23229_27999,dbSNP=rs121918361,"Hyperekplexia and epilepsy"
Q969Q4/C148R "Disease mutation",allele=115761_2054,dbSNP=rs3803185,"Cancer, association with"
Q3SXY8/R200C "Disease mutation",allele=200894_24378,dbSNP=rs121912608,"Joubert syndrome"
Q9H0F7/T31R "Disease mutation",allele=84100_2937,dbSNP=rs104893680,"Bardet-Biedl syndrome"
Q9H0F7/T31M "Disease mutation",allele=84100_2938,dbSNP=rs104893680,"Bardet-Biedl syndrome"
Q9H0F7/G169A "Disease mutation",allele=84100_2940,dbSNP=rs104893679,"Bardet-Biedl syndrome"
Q9H0F7/L170W "Disease mutation",allele=84100_2941,dbSNP=rs104893681,"Bardet-Biedl syndrome"
P15289/Y201C "Disease mutation",allele=410_13120,dbSNP=rs199476345,"Metachromatic leukodystrophy"
P15289/N350S "Disease mutation",allele=410_13166,dbSNP=rs2071421,"Arylsulphatase A pseudodeficiency, association"
P51690/R12S "Disease mutation",allele=415_28631,dbSNP=rs122460151,"Chondrodysplasia punctata"
P51690/G245R "Disease mutation",allele=415_28638,dbSNP=rs122460154,"Chondrodysplasia punctata"
P51690/G317R "Disease mutation",allele=415_28639,dbSNP=NULL,"Chondrodysplasia punctata"
P51690/P578S "Disease mutation",allele=415_28644,dbSNP=rs28935474,"Chondrodysplasia punctata"
Q93070/F62S "Disease mutation",allele=420_35706,dbSNP=rs150640567,"Dombrock blood group variation"
Q93070/G108V "Disease mutation",allele=420_35707,dbSNP=rs28362797,"Dombrock blood group variation"
Q93070/T117I "Disease mutation",allele=420_35708,dbSNP=rs28362798,"Dombrock blood group variation"
Q93070/N265D "Disease mutation",allele=420_35710,dbSNP=rs11276,"Dombrock blood group variation"
Q13510/V93I "Disease mutation",allele=427_2021,dbSNP=rs1049874,"Farber disease"
Q13510/E138V "Disease mutation",allele=427_2023,dbSNP=rs28934273,"Farber disease"
Q13510/R254G "Disease mutation",allele=427_2027,dbSNP=NULL,"Farber disease"
Q13510/P362R "Disease mutation",allele=427_2030,dbSNP=NULL,"Farber disease"
P45381/E24G "Disease mutation",allele=443_15684,dbSNP=rs104894551,"Canavan disease"
P45381/I143F "Disease mutation",allele=443_15694,dbSNP=NULL,"Canavan disease"
P45381/M195R "Disease mutation",allele=443_15707,dbSNP=NULL,"Canavan disease"
P45381/E285A "Disease mutation",allele=443_15721,dbSNP=rs28940279,"Canavan disease"
P00966/G14S "Disease mutation",allele=445_13355,dbSNP=rs121908636,"Citrullinaemia"
P00966/E191K "Disease mutation",allele=445_13382,dbSNP=NULL,"Citrullinaemia"
P00966/K310Q "Disease mutation",allele=445_13406,dbSNP=rs121908648,"Citrullinaemia"
P00966/V345G "Disease mutation",allele=445_13413,dbSNP=NULL,"Citrullinaemia"
Q86WG3/S301R "Disease mutation",allele=85300_3861,dbSNP=NULL,"Cerebellar ataxia, Cayman type"
P18850/A145P "Disease mutation",allele=22926_16933,dbSNP=rs2070150,"Diabetes, type 2, association with ?"
P18850/P157S "Disease mutation",allele=22926_16934,dbSNP=rs1135983,"Diabetes, type 2, association with ?"
P31939/K426R "Disease mutation",allele=471_9968,dbSNP=rs121434478,"AICA-Ribosiduria"
Q13315/L43P "Disease mutation",allele=472_23344,dbSNP=NULL,"Ataxia telangiectasia"
Q13315/S49C "Disease mutation",allele=472_23345,dbSNP=rs1800054,"Ataxia telangiectasia ?"
Q13315/C107Y "Disease mutation",allele=472_23348,dbSNP=rs142358238,"Breast cancer, susceptibility to"
P13637/E277K "Disease mutation",allele=478_11479,dbSNP=rs80356533,"Dystonia 12"
P13637/T613M "Disease mutation",allele=478_11480,dbSNP=rs80356534,"Dystonia 12"
P13637/F780L "Disease mutation",allele=478_11482,dbSNP=rs80356536,"Dystonia 12"
Q01814/G293S "Disease mutation",allele=491_32824,dbSNP=NULL,"Deafness, autosomal recessive 12, modifier of"
Q01814/V586M "Disease mutation",allele=491_32825,dbSNP=rs61736451,"Deafness, autosomal recessive 12, modifier of"
Q9Y487/P87L "Disease mutation",allele=23545_23523,dbSNP=NULL,"Cutis laxa, autosomal recessive, type 2"
Q9Y487/P405L "Disease mutation",allele=23545_23525,dbSNP=NULL,"Cutis laxa, autosomal recessive, type 2"
Q9Y487/R510I "Disease mutation",allele=23545_23527,dbSNP=NULL,"Cutis laxa, autosomal recessive, type 2"
Q9Y487/P792R "Disease mutation",allele=23545_23530,dbSNP=NULL,"Cutis laxa, autosomal recessive, type 2"
Q9HBG4/G175D "Disease mutation",allele=50617_25910,dbSNP=NULL,"Distal renal tubular acidosis, autosomal recessive"
Q9HBG4/R449H "Disease mutation",allele=50617_25915,dbSNP=NULL,"Distal renal tubular acidosis, autosomal recessive"
Q9HBG4/P524L "Disease mutation",allele=50617_25918,dbSNP=rs121908368,"Distal renal tubular acidosis, autosomal recessive"
Q9HBG4/R807Q "Disease mutation",allele=50617_25923,dbSNP=rs28939081,"Distal renal tubular acidosis, autosomal recessive"
P15313/L81P "Disease mutation",allele=525_20452,dbSNP=rs121964880,"Renal tubular acidosis, sensorineural deafness"
P15313/M174R "Disease mutation",allele=525_20456,dbSNP=NULL,"Renal tubular acidosis, sensorineural deafness"
P15313/P346R "Disease mutation",allele=525_20460,dbSNP=NULL,"Renal tubular acidosis, sensorineural deafness"
P15313/R465H "Disease mutation",allele=525_20463,dbSNP=rs142905621,"Renal tubular acidosis, sensorineural deafness"
Q8N5M1/W94R "Disease mutation",allele=91647_20861,dbSNP=rs104894554,"Complex V deficiency"
P30518/N55D "Disease mutation",allele=554_36168,dbSNP=NULL,"Diabetes insipidus, nephrogenic"
P30518/L274P "Disease mutation",allele=554_36249,dbSNP=NULL,"Diabetes insipidus, nephrogenic"
Q9Y2T1/V539M "Disease mutation",allele=8313_36288,dbSNP=rs9913621,"Hirschsprung disease, association with"
P61769/A11P "Disease mutation",allele=567_17962,dbSNP=rs104894481,"Hypercatabolic hypoproteinaemia, familial"
O75752/E266A "Disease mutation",allele=8706_18325,dbSNP=rs28937582,"B3GALNT1 deficiency (P2K phenotype)"
O75752/G271R "Disease mutation",allele=8706_18326,dbSNP=rs104893683,"B3GALNT1 deficiency (P1K phenotype)"
Q9Y2A9/H328R "Disease mutation",allele=10331_23550,dbSNP=rs36686,"Non-Hodgkin lymphoma, reduced risk, association with"
Q9UBV7/A186D "Disease mutation",allele=11285_8592,dbSNP=rs121917817,"Ehlers-Danlos syndrome, progeroid type"
Q9UBV7/R270C "Disease mutation",allele=11285_8594,dbSNP=rs28937869,"Ehlers-Danlos syndrome, progeroid type"
Q14032/M76V "Disease mutation",allele=570_11464,dbSNP=rs28937579,"Hypercholanaemia"
Q8NDB2/R61H "Disease mutation",allele=55024_17416,dbSNP=rs10516487,"Systemic lupus erythematosus, prot. against, assoc"
Q8NDB2/A383T "Disease mutation",allele=55024_17417,dbSNP=rs3733197,"Systemic lupus erythematosus, prot. against, assoc"
Q8NFJ9/K53E "Disease mutation",allele=582_31500,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8NFJ9/R160Q "Disease mutation",allele=582_31505,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8NFJ9/M390R "Disease mutation",allele=582_31510,dbSNP=rs113624356,"Bardet-Biedl syndrome"
Q8NFJ9/L518P "Disease mutation",allele=582_31516,dbSNP=rs121917778,"Bardet-Biedl syndrome"
Q8TAM1/C91W "Disease mutation",allele=79738_2448,dbSNP=rs148374859,"Bardet-Biedl syndrome"
Q8TAM1/V240G "Disease mutation",allele=79738_2452,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8TAM1/L414S "Disease mutation",allele=79738_2458,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8TAM1/T689P "Disease mutation",allele=79738_2463,dbSNP=NULL,"Bardet-Biedl syndrome"
Q6ZW61/P159L "Disease mutation",allele=166379_18329,dbSNP=NULL,"Bardet-Biedl syndrome"
Q6ZW61/I346T "Disease mutation",allele=166379_18331,dbSNP=NULL,"Bardet-Biedl syndrome"
Q6ZW61/T501M "Disease mutation",allele=166379_18333,dbSNP=rs138011813,"Bardet-Biedl syndrome"
Q6ZW61/G540V "Disease mutation",allele=166379_18334,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8N3I7/G72S "Disease mutation",allele=129880_18340,dbSNP=rs121908581,"Bardet-Biedl syndrome"
Q8N3I7/T183A "Disease mutation",allele=129880_18341,dbSNP=rs121908582,"Bardet-Biedl syndrome"
Q8N3I7/N184S "Disease mutation",allele=129880_18342,dbSNP=rs150063999,"Phenotype modifier?"
Q8N3I7/R207H "Disease mutation",allele=129880_18343,dbSNP=rs35487251,"Phenotype modifier?"
Q8IWZ6/I66F "Disease mutation",allele=55212_17747,dbSNP=NULL,"Bardet-Biedl syndrome"
Q8IWZ6/T211I "Disease mutation",allele=55212_17748,dbSNP=rs119466002,"Bardet-Biedl syndrome"
Q8IWZ6/H323R "Disease mutation",allele=55212_17749,dbSNP=rs119466001,"Bardet-Biedl syndrome"
Q8IWZ6/S556R "Disease mutation",allele=55212_17750,dbSNP=NULL,"Bardet-Biedl syndrome"
P50895/R77H "Disease mutation",allele=4059_19461,dbSNP=rs28399653,"Blood group variation"
P50895/R175Q "Disease mutation",allele=4059_19467,dbSNP=rs141223803,"Blood group variation"
P50895/S447L "Disease mutation",allele=4059_19474,dbSNP=rs117737673,"Blood group variation"
P50895/T539A "Disease mutation",allele=4059_19476,dbSNP=rs1135062,"Blood group variation"
P06276/D98G "Disease mutation",allele=590_1910,dbSNP=rs1799807,"Butyrylcholinesterase variant"
P06276/Y156C "Disease mutation",allele=590_1919,dbSNP=rs121918558,"Butyrylcholinesterase deficiency"
P06276/L358I "Disease mutation",allele=590_1938,dbSNP=rs121918557,"Butyrylcholinesterase variant"
P06276/Q546L "Disease mutation",allele=590_1959,dbSNP=NULL,"Butyrylcholinesterase deficiency"
P21953/H206R "Disease mutation",allele=594_18141,dbSNP=NULL,"Maple syrup urine disease"
O95999/A5S "Disease mutation",allele=8915_20120,dbSNP=rs12037217,"Advanced germ cell tumors, association with"
O95999/L8L "Disease mutation",allele=8915_20121,dbSNP=rs11576939,"Advanced germ cell tumors, association with ?"
Q9HAY6/T170M "Disease mutation",allele=53630_28232,dbSNP=rs119478057,"Hypercarotenemia and hypovitaminosis A"
Q9HAY6/A379V "Disease mutation",allele=53630_28234,dbSNP=rs7501331,"Altered beta-carotene metabolism, association with"
Q9Y276/P99L "Disease mutation",allele=617_8787,dbSNP=rs121908572,"Complex 3 deficiency"
Q9Y276/R144Q "Disease mutation",allele=617_8789,dbSNP=NULL,"Complex 3 deficiency"
Q9Y276/Q302E "Disease mutation",allele=617_8796,dbSNP=NULL,"Pili torti and nerve deafness"
Q9Y276/V327A "Disease mutation",allele=617_8798,dbSNP=NULL,"Complex 3 deficiency"
P23560/T2I "Disease mutation",allele=627_16104,dbSNP=rs8192466,"Central hypoventilation syndrome ?"
O76090/Y85H "Disease mutation",allele=7439_3785,dbSNP=rs28940274,"Best macular dystrophy"
O76090/R92C "Disease mutation",allele=7439_3790,dbSNP=NULL,"Best macular dystrophy"
O76090/R218G "Disease mutation",allele=7439_3821,dbSNP=NULL,"Best macular dystrophy"
O76090/L567F "Disease mutation",allele=7439_3853,dbSNP=rs148060787,"Macular degeneration, age related"
Q13515/R287W "Disease mutation",allele=8419_27473,dbSNP=rs104893685,"Cataract, progressive, juvenile onset"
Q13515/R339H "Disease mutation",allele=8419_27474,dbSNP=NULL,"Congenital cataract"
Q13515/A407D "Non-disease variant",allele=8419_900226,dbSNP=rs79087781,"NULL"
Q93088/R239Q "Disease mutation",allele=635_11490,dbSNP=rs3733890,"Reduced risk of coronary artery disease, assoc."
P54132/Q672R "Disease mutation",allele=641_34890,dbSNP=NULL,"Bloom syndrome"
P54132/C1066Y "Disease mutation",allele=641_34908,dbSNP=rs367543025,"Bloom syndrome"
Q13867/I443V "Disease mutation",allele=642_12061,dbSNP=rs1050565,"Alzheimer disease, association with"
P35226/C18Y "Disease mutation",allele=648_11477,dbSNP=rs1042059,"Reduced BMI-1 levels, association with"
O95972/R61Q "Disease mutation",allele=9210_27733,dbSNP=NULL,"Premature ovarian failure"
O95972/R76C "Disease mutation",allele=9210_27735,dbSNP=rs104894766,"Premature ovarian failure & amenorrhoea"
O95972/N196K "Disease mutation",allele=9210_27740,dbSNP=NULL,"Premature ovarian failure"
O95972/Y235C "Disease mutation",allele=9210_27744,dbSNP=rs104894765,"Premature ovarian failure"
P12644/S91C "Disease mutation",allele=652_2215,dbSNP=rs121912767,"Orbicularis oris defect"
P12644/G168A "Disease mutation",allele=652_2221,dbSNP=NULL,"Cleft lip and palate"
P12644/T225A "Disease mutation",allele=652_2225,dbSNP=rs144556455,"BMP4 variant"
P12644/S367T "Disease mutation",allele=652_2230,dbSNP=NULL,"BMP4 variant"
P18075/R303C "Disease mutation",allele=655_4934,dbSNP=NULL,"Hypospadias"
O00238/I200K "Disease mutation",allele=658_19497,dbSNP=rs121434417,"Brachydactyly type A2"
O00238/R486W "Disease mutation",allele=658_19498,dbSNP=rs28939704,"Brachydactyly type A2"
O00238/R486Q "Disease mutation",allele=658_19499,dbSNP=rs121434419,"Brachydactyly type A2"
P07738/R62Q "Disease mutation",allele=669_1340,dbSNP=NULL,"Bisphosphoglycerate mutase deficiency"
P07738/R90C "Disease mutation",allele=669_1341,dbSNP=rs121964925,"Bisphosphoglycerate mutase deficiency"
P15056/F595L "Disease mutation",allele=673_36663,dbSNP=rs121913341,"Cardio-facio-cutaneous syndrome"
P38398/V11A "Disease mutation",allele=672_23562,dbSNP=rs80357017,"Breast cancer"
P38398/Y179C "Disease mutation",allele=672_23622,dbSNP=rs56187033,"Breast cancer"
P38398/R1495M "Disease mutation",allele=672_23651,dbSNP=rs80357389,"Ovarian cancer"
P38398/T1773S "Disease mutation",allele=672_23739,dbSNP=rs80357324,"Breast and/or ovarian cancer ?"
Q9BX63/P47A "Disease mutation",allele=83990_28903,dbSNP=rs28903098,"Breast cancer"
Q9BX63/L195P "Disease mutation",allele=83990_28906,dbSNP=rs4988347,"Breast cancer ?"
Q9BX63/A349P "Disease mutation",allele=83990_28909,dbSNP=rs149364097,"Fanconi anaemia"
Q9BX63/W647C "Disease mutation",allele=83990_28911,dbSNP=NULL,"Fanconi anaemia"
P35613/E92K "Disease mutation",allele=682_4943,dbSNP=rs104894669,"Blood group variation"
Q8WZ55/R8W "Disease mutation",allele=7809_30810,dbSNP=rs74315285,"Bartter syndrome with sensorineural deafness"
Q8WZ55/V43I "Disease mutation",allele=7809_30814,dbSNP=rs34561376,"Reduced function, association with"
Q8WZ55/G47R "Disease mutation",allele=7809_30815,dbSNP=rs74315289,"Bartter syndrome with sensorineural deafness"
Q8WZ55/G284D "Disease mutation",allele=7809_30817,dbSNP=rs150426464,"Reduced function, association with"
Q10588/R125H "Disease mutation",allele=683_12675,dbSNP=rs2302465,"Colorectal cancer, increased risk, assoc. with"
P35070/C7G "Disease mutation",allele=685_11408,dbSNP=rs28549760,"Diabetes, type 2, suscept., association with ?"
P43251/E112Q "Disease mutation",allele=686_12604,dbSNP=NULL,"Biotinidase deficiency"
P43251/A171T "Disease mutation",allele=686_12614,dbSNP=rs13073139,"Biotinidase deficiency"
P43251/L278V "Disease mutation",allele=686_12633,dbSNP=NULL,"Biotinidase deficiency"
P43251/W487R "Disease mutation",allele=686_12663,dbSNP=NULL,"Biotinidase deficiency"
Q06187/I56T "Disease mutation",allele=695_25588,dbSNP=NULL,"Agammaglobulinaemia"
Q06187/V219V "Disease mutation",allele=695_25631,dbSNP=NULL,"Agammaglobulinaemia ?"
Q06187/K430E "Disease mutation",allele=695_25709,dbSNP=rs128620184,"Agammaglobulinaemia"
Q06187/P565L "Disease mutation",allele=695_25787,dbSNP=NULL,"Agammaglobulinaemia"
O60566/R36Q "Disease mutation",allele=701_14158,dbSNP=NULL,"Premature chromatid separation syndrome"
O60566/Q349R "Disease mutation",allele=701_14161,dbSNP=rs1801376,"Leukemia, risk, assoc. with"
O60566/R550Q "Disease mutation",allele=701_14162,dbSNP=rs28989187,"Mosaic variegated aneuploidy"
O60566/Q921H "Disease mutation",allele=701_14166,dbSNP=rs28989183,"Mosaic variegated aneuploidy"
Q96RR1/R303W "Disease mutation",allele=56652_17589,dbSNP=NULL,"Progressive external ophthalmoplegia"
Q96RR1/R303Q "Disease mutation",allele=56652_17590,dbSNP=rs137852956,"Progressive external ophthalmoplegia"
Q96RR1/W315L "Disease mutation",allele=56652_17592,dbSNP=rs111033575,"Progressive external ophthalmoplegia"
Q96RR1/E479K "Disease mutation",allele=56652_17616,dbSNP=NULL,"Progressive external ophthalmoplegia"
P02745/G92G "Disease mutation",allele=712_20859,dbSNP=rs172378,"Subacute cutaneous lupus erythematosus, association with ?"
P02746/G42D "Disease mutation",allele=713_4935,dbSNP=NULL,"C1Q deficiency, type B"
P02746/G244R "Disease mutation",allele=713_4937,dbSNP=rs34813378,"C1Q deficiency, type B"
P02747/G34R "Disease mutation",allele=714_4938,dbSNP=rs200206736,"C1Q deficiency, type C"
P09871/G630E "Disease mutation",allele=716_20229,dbSNP=NULL,"Complement C1S abnormality"
P09871/R119H "Non-disease variant",allele=716_900174,dbSNP=rs12146727,"NULL"
P06681/C131Y "Disease mutation",allele=717_35064,dbSNP=NULL,"Complement C2 deficiency"
P06681/S209F "Disease mutation",allele=717_35065,dbSNP=rs28934590,"Complement C2 deficiency"
P06681/E318D "Disease mutation",allele=717_35066,dbSNP=rs9332739,"Complement C2 deficiency"
P06681/G464R "Disease mutation",allele=717_35067,dbSNP=rs151340617,"Complement C2 deficiency"
P06681/V641A "Non-disease variant",allele=717_900164,dbSNP=rs36221133,"NULL"
Q9P296/S323I "Disease mutation",allele=27202_35125,dbSNP=rs150599989,"Altered acylation stimulating protein bioactivity"
P10643/C63W "Disease mutation",allele=730_23350,dbSNP=NULL,"Complement C7 deficiency"
P10643/G379R "Disease mutation",allele=730_23353,dbSNP=rs121964921,"Complement C7 deficiency"
P10643/R521S "Disease mutation",allele=730_23356,dbSNP=rs121964920,"Complement C7 deficiency"
P10643/R687H "Disease mutation",allele=730_23359,dbSNP=rs113187203,"Complement C7 deficiency"
P02748/C119G "Disease mutation",allele=735_21374,dbSNP=rs121909593,"Complement C9 deficiency"
P02748/C528Y "Disease mutation",allele=735_21377,dbSNP=NULL,"Complement C9 deficiency"
P00915/H68R "Disease mutation",allele=759_15514,dbSNP=NULL,"Carbonic anhydrase deficiency"
P00915/R247H "Disease mutation",allele=759_15515,dbSNP=rs121909578,"Carbonic anhydrase deficiency"
P22748/R14W "Disease mutation",allele=762_18393,dbSNP=rs104894559,"Retinitis pigmentosa"
P22748/R69H "Disease mutation",allele=762_18394,dbSNP=rs121434552,"Retinitis pigmentosa"
P22748/R219S "Disease mutation",allele=762_18395,dbSNP=rs121434551,"Rod and cone photoreceptor degeneration"
P35219/S100P "Disease mutation",allele=767_23161,dbSNP=rs267606695,"Cerebellar ataxia and quadrupedal locomotion"
P57796/R124C "Disease mutation",allele=57010_20989,dbSNP=rs121917828,"Night blindness, autosomal recessive"
O00305/C104F "Disease mutation",allele=785_36106,dbSNP=rs1805031,"Idiopathic epilepsy, generalised"
O00305/R468Q "Disease mutation",allele=785_36107,dbSNP=NULL,"Seizures, increased risk"
Q9BY67/H246N "Disease mutation",allele=23705_19437,dbSNP=NULL,"Autism spectrum disorder"
Q9BY67/Y251S "Disease mutation",allele=23705_19438,dbSNP=rs201292141,"Autism spectrum disorder"
Q96L12/R73Q "Disease mutation",allele=125972_2596,dbSNP=NULL,"Cardiomyopathy, hypertropic"
Q96L12/K82R "Disease mutation",allele=125972_2597,dbSNP=rs142951029,"Cardiomyopathy, hypertropic"
Q6MZZ7/T280A "Disease mutation",allele=92291_27879,dbSNP=rs508405,"Leukemia, risk, asssoc. with ?"
P20807/T706K "Disease mutation",allele=825_16549,dbSNP=NULL,"Muscular dystrophy, limb girdle"
P20807/A798E "Disease mutation",allele=825_16573,dbSNP=rs149095128,"Muscular dystrophy, limb girdle 2A"
Q16568/L61F "Disease mutation",allele=9607_16964,dbSNP=rs121909065,"Obesity, severe"
O14936/Y268H "Disease mutation",allele=8573_27897,dbSNP=rs137852817,"Mental retardation, X-linked ?"
O14936/D710G "Disease mutation",allele=8573_27899,dbSNP=rs137852818,"Mental retardation, X-linked ?"
Q92851/L285F "Disease mutation",allele=843_18885,dbSNP=rs17860403,"Autoimmune lymphoproliferative syndrome II"
Q92851/V410I "Disease mutation",allele=843_18887,dbSNP=rs13010627,"Autoimmune lymphoproliferative syndrome II ?"
Q92851/Y446C "Disease mutation",allele=843_18888,dbSNP=rs17860405,"Autoimmune lymphoproliferative syndrome II, association with"
Q92851/P501L "Disease mutation",allele=843_18889,dbSNP=rs148939095,"Autoimmune lymphoproliferative syndrome II"
O14958/R33Q "Disease mutation",allele=845_21037,dbSNP=NULL,"Ventricular tachycardia, polymorphic"
O14958/Y55C "Disease mutation",allele=845_21038,dbSNP=NULL,"Ventricular tachycardia, polymorphic"
O14958/D307H "Disease mutation",allele=845_21042,dbSNP=rs121434549,"Ventricular tachycardia, polymorphic"
P04040/D54E "Disease mutation",allele=847_26863,dbSNP=NULL,"Diabetes mellitus, type 2"
P04040/E67D "Disease mutation",allele=847_26864,dbSNP=NULL,"Diabetes mellitus, type 2"
P04040/R354H "Disease mutation",allele=847_26865,dbSNP=rs144190885,"Acatalasaemia"
P56539/D28E "Disease mutation",allele=859_31467,dbSNP=rs116840782,"Rippling muscle disease"
P56539/G56S "Disease mutation",allele=859_31478,dbSNP=rs72546667,"Muscular dystrophy, limb girdle"
P56539/T78M "Disease mutation",allele=859_31487,dbSNP=rs72546668,"Long QT syndrome"
P56539/S141R "Disease mutation",allele=859_31496,dbSNP=rs104893713,"Long QT syndrome"
Q13191/A155V "Disease mutation",allele=868_2954,dbSNP=rs114627188,"Diabetes, type 1"
Q13191/F328L "Disease mutation",allele=868_2955,dbSNP=NULL,"Diabetes, type 1"
Q13191/K837R "Disease mutation",allele=868_2956,dbSNP=NULL,"Diabetes, type 1"
Q13191/R968L "Disease mutation",allele=868_2958,dbSNP=NULL,"Diabetes, type 1"
P16152/V88I "Disease mutation",allele=873_12091,dbSNP=rs1143663,"Altered NADPH binding affinity, association with"
O75828/V244M "Disease mutation",allele=874_8001,dbSNP=rs1056892,"Increased catalytic efficiency, association with"
P35520/P49L "Disease mutation",allele=875_994,dbSNP=rs148865119,"Homocystinuria"
P35520/L154Q "Disease mutation",allele=875_1022,dbSNP=NULL,"Homocystinuria"
P35520/I278T "Disease mutation",allele=875_1052,dbSNP=rs5742905,"Homocystinuria"
P35520/L456P "Disease mutation",allele=875_1092,dbSNP=NULL,"Homocystinuria"
P32239/V125I "Disease mutation",allele=887_6083,dbSNP=rs1805002,"Receptor variant"
P32239/E288K "Disease mutation",allele=887_6084,dbSNP=NULL,"Altered drug efficacy, association with"
Q9BSQ5/L198R "Disease mutation",allele=83605_7395,dbSNP=rs137852843,"Cerebral cavernous malformations"
P48643/H147R "Disease mutation",allele=22948_10693,dbSNP=rs118203986,"Mutilating sensory neuropathy with sp. paraplegia"
P48509/R171C "Disease mutation",allele=977_10914,dbSNP=rs139042921,"Blood group variation"
P48509/R178H "Disease mutation",allele=977_10915,dbSNP=NULL,"Blood group variation"
Q9UJ71/W264R "Disease mutation",allele=50489_21246,dbSNP=rs200837270,"Birbeck granules deficiency"
Q9UJ71/N288D "Disease mutation",allele=50489_21247,dbSNP=rs13383830,"Sugar binding activity, assoc. with"
Q9UJ71/A300P "Disease mutation",allele=50489_21248,dbSNP=rs2080391,"Sugar binding activity, assoc. with"
Q9UJ71/A55V "Non-disease variant",allele=50489_900152,dbSNP=rs10489990,"NULL"
Q9UJ71/E114V "Non-disease variant",allele=50489_900155,dbSNP=rs72836219,"NULL"
Q9UJ71/R66Q "Non-disease variant",allele=50489_900162,dbSNP=rs72911708,"NULL"
P20273/P768P "Disease mutation",allele=933_31563,dbSNP=rs34826052,"Limited cutaneous systemic sclerosis, association with ?"
P16671/P90S "Disease mutation",allele=948_11786,dbSNP=rs3765187,"Platelet glycoprotein IV deficiency, association"
P16671/V137A "Disease mutation",allele=948_11788,dbSNP=rs2272350,"CD36 deficiency"
P16671/F254L "Disease mutation",allele=948_11789,dbSNP=rs142186404,"CD36 deficiency"
P16671/I413L "Disease mutation",allele=948_11792,dbSNP=rs121918035,"CD36 deficiency"
P28907/R140W "Disease mutation",allele=952_9636,dbSNP=rs1800561,"Diabetes mellitus 2, association with"
P25942/P227A "Disease mutation",allele=958_1622,dbSNP=rs11086998,"Enhanced function, association with"
P16070/R46P "Disease mutation",allele=960_8538,dbSNP=NULL,"CD44 variant"
P16070/T163K "Disease mutation",allele=960_8540,dbSNP=NULL,"Indian blood group variant"
P08174/R52P "Disease mutation",allele=1604_4635,dbSNP=rs28371588,"Cromer blood group"
P08174/R52L "Disease mutation",allele=1604_4636,dbSNP=rs28371588,"Cromer blood group"
P08174/E156K "Disease mutation",allele=1604_4640,dbSNP=NULL,"Cromer blood group"
P08174/P216L "Disease mutation",allele=1604_4643,dbSNP=rs144692928,"Cromer blood group"
P40259/G137S "Disease mutation",allele=974_17961,dbSNP=rs121912424,"Immunodeficiency"
P40200/T280M "Disease mutation",allele=10225_21142,dbSNP=rs119477056,"C syndrome"
P32320/A70T "Disease mutation",allele=978_20221,dbSNP=rs60369023,"ara-C sensitivity, association with"
Q6P1J9/L64P "Disease mutation",allele=79577_20642,dbSNP=rs121434264,"Hyperparathyroidism-jaw tumour syndrome"
Q6P1J9/R91P "Disease mutation",allele=79577_20643,dbSNP=NULL,"Hyperparathyroidism, primary"
P11802/R24C "Disease mutation",allele=1019_7693,dbSNP=rs11547328,"Melanoma"
P11802/R24H "Disease mutation",allele=1019_7694,dbSNP=rs104894340,"Melanoma"
P11802/N41S "Disease mutation",allele=1019_7695,dbSNP=rs144890720,"Melanoma"
P11802/S52N "Disease mutation",allele=1019_7696,dbSNP=NULL,"Melanoma"
Q15078/A108V "Disease mutation",allele=8851_2213,dbSNP=NULL,"Mental retardation"
Q15078/L302I "Disease mutation",allele=8851_2214,dbSNP=NULL,"Mental retardation ?"
P38936/S31R "Disease mutation",allele=1026_5563,dbSNP=rs1801270,"Cancer, association with"
P38936/R67L "Disease mutation",allele=1026_5564,dbSNP=rs45548832,"Multiple endocrine neoplasia 1"
P38936/R84Q "Disease mutation",allele=1026_5565,dbSNP=rs34916193,"Breast cancer, association with"
P38936/D149G "Disease mutation",allele=1026_5566,dbSNP=NULL,"Altered activity, association with"
P46527/P95S "Disease mutation",allele=1027_2932,dbSNP=rs188579132,"Multiple endocrine neoplasia 1"
P46527/I119T "Disease mutation",allele=1027_2934,dbSNP=rs142833529,"Myeloproliferative syndrome"
P46527/E172K "Disease mutation",allele=1027_2935,dbSNP=NULL,"Acute lymphoblastic leukaemia"
P42773/V31L "Disease mutation",allele=1031_23767,dbSNP=rs200956660,"Multiple endocrine neoplasia 1"
O95813/R19W "Disease mutation",allele=9350_22894,dbSNP=rs10115703,"Lung cancer, susceptibility to, association with"
Q49MI3/R106S "Disease mutation",allele=375298_34661,dbSNP=NULL,"Retinal degeneration"
P11597/L168P "Disease mutation",allele=1071_15201,dbSNP=NULL,"Hyperalphalipoproteinaemia"
P11597/L313Q "Disease mutation",allele=1071_15206,dbSNP=NULL,"Higher HDL cholesterol level, association with"
P11597/S349Y "Disease mutation",allele=1071_15208,dbSNP=NULL,"Reduced activity, association with"
P11597/D459G "Disease mutation",allele=1071_15211,dbSNP=rs2303790,"Cholesterol ester transfer protein deficiency"
P00751/L9H "Disease mutation",allele=629_8801,dbSNP=rs4151667,"Macular degeneration, risk, assoc. with ?"
P00751/F286L "Disease mutation",allele=629_8804,dbSNP=rs117905900,"Hemolytic uremic syndrome, atypical, assoc. with"
P00751/K323E "Disease mutation",allele=629_8805,dbSNP=rs121909748,"Hemolytic uremic syndrome, atypical, assoc. with"
P0CG37/R47Q "Disease mutation",allele=55997_22940,dbSNP=rs201431919,"Left-right laterality defect"
P0CG37/R78W "Disease mutation",allele=55997_22941,dbSNP=NULL,"Left-right laterality defect"
P0CG37/A145T "Disease mutation",allele=55997_22943,dbSNP=rs199715380,"Congenital heart defects"
P0CG37/P217R "Disease mutation",allele=55997_22949,dbSNP=NULL,"Congenital heart defects ?"
P08603/R78G "Disease mutation",allele=3075_16334,dbSNP=NULL,"Haemolytic uraemic syndrome"
P08603/R127L "Disease mutation",allele=3075_16336,dbSNP=rs121913058,"Membranoproliferative glomerulonephritis"
P08603/A307A "Disease mutation",allele=3075_16341,dbSNP=rs1061147,"Macular degeneration, age-related, assoc. with"
P08603/Q400K "Disease mutation",allele=3075_16342,dbSNP=rs201671665,"Haemolytic uraemic syndrome, atypical ?"
Q9BXR6/P46S "Disease mutation",allele=81494_25975,dbSNP=rs12097550,"Membranoproliferative glomerulonephritis, association with"
Q9BXR6/K144N "Disease mutation",allele=81494_25977,dbSNP=rs181511327,"Haemolytic uraemic syndrome susceptibility ?"
Q9BXR6/R356H "Disease mutation",allele=81494_25978,dbSNP=rs35662416,"Haemolytic uraemic syndrome susceptibility ?"
Q9BXR6/M514R "Disease mutation",allele=81494_25979,dbSNP=rs141321678,"Haemolytic uraemic syndrome susceptibility ?"
Q9BXR6/G145E "Non-disease variant",allele=81494_900225,dbSNP=rs57960694,"NULL"
Q9BXR6/F192L "Non-disease variant",allele=81494_900230,dbSNP=rs151134004,"NULL"
P05156/S90N "Disease mutation",allele=3426_21345,dbSNP=NULL,"Thrombotic microangiopathy following transplantation"
P05156/G162D "Disease mutation",allele=3426_21348,dbSNP=NULL,"Thrombotic microangiopathy following transplantation"
P05156/A240G "Disease mutation",allele=3426_21352,dbSNP=rs146444258,"Haemolytic uraemic syndrome"
P05156/I340T "Disease mutation",allele=3426_21360,dbSNP=NULL,"Haemolytic uraemic syndrome"
P27918/R100W "Disease mutation",allele=5199_13807,dbSNP=rs132630259,"Properdin deficiency"
P27918/W321S "Disease mutation",allele=5199_13813,dbSNP=NULL,"Properdin deficiency"
P27918/R346C "Disease mutation",allele=5199_13815,dbSNP=NULL,"Properdin deficiency"
P10645/G382S "Disease mutation",allele=1113_6427,dbSNP=rs9658667,"Reduced diastolic blood pressure, association with"
P10645/P388L "Disease mutation",allele=1113_6428,dbSNP=rs9658668,"Altered processing by plasmin, association with"
Q13231/E74K "Disease mutation",allele=1118_32983,dbSNP=rs137852607,"Chitotriosidase deficiency"
Q13231/G354R "Disease mutation",allele=1118_32985,dbSNP=rs9943208,"Reduced enzyme activity, association with"
Q13231/A442V "Disease mutation",allele=1118_32986,dbSNP=rs1065761,"Reduced enzyme activity, association with"
Q9UQN3/N143S "Disease mutation",allele=25978_3600,dbSNP=rs63750944,"Frontotemporal dementia"
Q9UQN3/D148Y "Disease mutation",allele=25978_3601,dbSNP=rs63750653,"Frontotemporal dementia"
Q9UQN3/Q206H "Disease mutation",allele=25978_3604,dbSNP=rs63751126,"Amyotrphic lateral sclerosis"
P15882/L20F "Disease mutation",allele=1123_5299,dbSNP=rs121912792,"Duane retraction syndrome 2"
P15882/A223V "Disease mutation",allele=1123_5302,dbSNP=rs121912795,"Duane retraction syndrome 2"
P15882/G228S "Disease mutation",allele=1123_5303,dbSNP=rs121912796,"Duane retraction syndrome 2"
P15882/P252Q "Disease mutation",allele=1123_5304,dbSNP=rs121912797,"Duane retraction syndrome 2"
P08172/C176W "Disease mutation",allele=1129_25171,dbSNP=NULL,"Cardiomyopathy, dilated"
P02708/G94C "Disease mutation",allele=1134_9235,dbSNP=rs199470444,"Congenital myasthenic syndrome"
P02708/G173S "Disease mutation",allele=1134_9237,dbSNP=rs137852801,"Slow channel myasthenic syndrome"
P02708/V176M "Disease mutation",allele=1134_9238,dbSNP=rs137852799,"Slow channel myasthenic syndrome"
P02708/R229L "Disease mutation",allele=1134_9239,dbSNP=rs137852809,"Fetal akinesia deformation sequence disorder"
P32297/Y215Y "Disease mutation",allele=1136_7692,dbSNP=rs1051730,"Nicotine dependence, association with ?"
P43681/S280F "Disease mutation",allele=1137_30954,dbSNP=rs121909580,"Epilepsy, nocturnal frontal lobe"
P43681/S284L "Disease mutation",allele=1137_30955,dbSNP=rs28931591,"Epilepsy, nocturnal frontal lobe"
P43681/L290V "Disease mutation",allele=1137_30956,dbSNP=NULL,"Epilepsy, nocturnal frontal lobe"
P43681/T293I "Disease mutation",allele=1137_30957,dbSNP=rs281865066,"Epilepsy, nocturnal frontal lobe"
P11230/V252F "Disease mutation",allele=1140_5313,dbSNP=NULL,"Slow channel myasthenic syndrome"
P11230/L285M "Disease mutation",allele=1140_5314,dbSNP=rs137852811,"Slow channel myasthenic syndrome"
P11230/V289M "Disease mutation",allele=1140_5315,dbSNP=rs137852810,"Slow channel myasthenic syndrome"
P30926/T91I "Disease mutation",allele=1143_30749,dbSNP=rs12914008,"Altered function, association with"
P30926/R136W "Disease mutation",allele=1143_30750,dbSNP=rs141876090,"Altered function, association with"
P30926/M467V "Disease mutation",allele=1143_30751,dbSNP=rs61737502,"Altered function, association with"
Q07001/L63P "Disease mutation",allele=1144_36141,dbSNP=rs121909508,"Congenital myasthenic syndrome"
Q07001/I79K "Disease mutation",allele=1144_36143,dbSNP=rs121909509,"Congenital myasthenic syndrome"
Q07001/Q288E "Disease mutation",allele=1144_36147,dbSNP=rs41265127,"Slow channel myasthenic syndrome"
Q07001/E402K "Disease mutation",allele=1144_36149,dbSNP=rs145955590,"Congenital myasthenic syndrome"
P07510/R86C "Disease mutation",allele=1146_31615,dbSNP=NULL,"Pterygium syndrome"
P07510/V107G "Disease mutation",allele=1146_31616,dbSNP=rs267606726,"Pterygium syndrome"
P07510/R239C "Disease mutation",allele=1146_31617,dbSNP=rs121912670,"Pterygium syndrome"
Q9GZX3/Y110C "Disease mutation",allele=4166_35954,dbSNP=rs72547544,"Macular corneal dystrophy, type 1"
Q9GZX3/H249P "Disease mutation",allele=4166_36003,dbSNP=rs72547540,"Macular corneal dystrophy, type 1"
Q9GZX3/Y358D "Disease mutation",allele=4166_36019,dbSNP=NULL,"Macular corneal dystrophy, type 1"
O60543/V115F "Disease mutation",allele=1149_14939,dbSNP=rs45619832,"Obesity, assoc. with"
Q969X6/R565W "Disease mutation",allele=84916_12124,dbSNP=rs119465999,"North American Indian childhood cirrhosis"
P06732/D54G "Disease mutation",allele=1158_10189,dbSNP=rs201470105,"Muscle creatine kinase deficiency"
Q9UQC9/Q306E "Disease mutation",allele=9635_18963,dbSNP=rs17409304,"Leukemia, risk, assoc. with ?"
P51788/R577Q "Disease mutation",allele=1181_16935,dbSNP=rs137852682,"Idiopathic epilepsy, generalised"
P51788/G715E "Disease mutation",allele=1181_16938,dbSNP=rs137852681,"Idiopathic epilepsy, generalised"
P51788/R725W "Disease mutation",allele=1181_16941,dbSNP=rs114702742,"Altered function, association with"
P51795/G88D "Disease mutation",allele=1184_28578,dbSNP=NULL,"Dent disease"
P51795/L200R "Disease mutation",allele=1184_28583,dbSNP=rs151340622,"Dent disease"
P51795/R516W "Disease mutation",allele=1184_28614,dbSNP=NULL,"Dent (Japan) disease"
P51795/K725E "Disease mutation",allele=1184_28630,dbSNP=NULL,"Dent disease"
P51801/A61D "Disease mutation",allele=1188_21144,dbSNP=NULL,"Bartter syndrome 3"
P51801/P124L "Disease mutation",allele=1188_21145,dbSNP=rs121909131,"Bartter syndrome 3"
P51801/R438H "Disease mutation",allele=1188_21154,dbSNP=rs201540273,"Bartter syndrome 3"
P51801/T481S "Disease mutation",allele=1188_21155,dbSNP=rs12140311,"Essential hypertension, association with"
O95500/V85D "Disease mutation",allele=23562_13035,dbSNP=rs74315437,"Deafness, autosomal recessive"
O95500/G101R "Disease mutation",allele=23562_13036,dbSNP=rs74315438,"Deafness, autosomal recessive"
Q9Y5I7/M71R "Disease mutation",allele=10686_23125,dbSNP=rs104893724,"Hypomagnesemia with hypercalciuria and nephrocalcinosis"
Q9Y5I7/A139V "Disease mutation",allele=10686_23132,dbSNP=NULL,"Hypomagnesemia hypercalciuria syndrome"
Q9Y5I7/R216C "Disease mutation",allele=10686_23146,dbSNP=NULL,"Hypomagnesemia with hypercalciuria and nephrocalcinosis"
Q9Y5I7/S235Y "Disease mutation",allele=10686_23153,dbSNP=NULL,"Hypomagnesemia with hypercalciuria and nephrocalcinosis"
Q8N6F1/G20D "Disease mutation",allele=149461_17523,dbSNP=rs118203979,"Hypomagnesemia, renal failure & severe ocular abnormalities"
Q8N6F1/L90P "Disease mutation",allele=149461_17525,dbSNP=rs118203981,"Hypomagnesemia, renal failure & severe ocular abnormalities"
Q8N6F1/R200Q "Non-disease variant",allele=149461_900213,dbSNP=rs116804195,"NULL"
Q9UBY8/R24G "Disease mutation",allele=2055_9285,dbSNP=rs104894064,"Epilepsy, progressive with mental retardation"
Q9UBY8/A30P "Disease mutation",allele=2055_9286,dbSNP=rs137852883,"Neuronal ceroid lipofuscinosis, late infantile"
Q9UBY8/T170M "Disease mutation",allele=2055_9289,dbSNP=rs188259026,"Neuronal ceroid lipofuscinosis, late infantile"
Q9UBY8/Q256E "Disease mutation",allele=2055_9292,dbSNP=NULL,"Neuronal ceroid lipofuscinosis, early childhood"
P58418/C40G "Disease mutation",allele=7401_35906,dbSNP=rs121908143,"Usher syndrome 3a"
P58418/N48K "Disease mutation",allele=7401_35907,dbSNP=rs111033258,"Usher syndrome 3a"
P58418/S105P "Disease mutation",allele=7401_35909,dbSNP=NULL,"Usher syndrome 3a"
P58418/M120K "Disease mutation",allele=7401_35910,dbSNP=rs121908141,"Usher syndrome 3a"
P10909/Q433P "Disease mutation",allele=1191_1275,dbSNP=NULL,"Haemolytic uraemic syndrome"
Q16281/P163L "Disease mutation",allele=1261_30975,dbSNP=rs104893612,"Colour-blindness, total"
Q16281/C191Y "Disease mutation",allele=1261_30979,dbSNP=NULL,"Colour-blindness, total"
Q16281/S401P "Disease mutation",allele=1261_31004,dbSNP=NULL,"Achromatopsia"
Q16281/R563C "Disease mutation",allele=1261_31025,dbSNP=rs150153987,"Achromatopsia"
Q03692/G18R "Disease mutation",allele=1300_28824,dbSNP=rs111033550,"Metaphyseal chondrodysplasia, Schmid"
Q03692/G18E "Disease mutation",allele=1300_28825,dbSNP=rs111033551,"Metaphyseal chondrodysplasia, Schmid"
Q03692/C591R "Disease mutation",allele=1300_28827,dbSNP=rs111033546,"Metaphyseal chondrodysplasia, Schmid"
Q03692/G595R "Disease mutation",allele=1300_28828,dbSNP=NULL,"Metaphyseal chondrodysplasia, Schmid"
P02458/R1276C "Disease mutation",allele=1280_16674,dbSNP=NULL,"Spondylarthopathy with brachydactyly"
P02458/Y1298N "Disease mutation",allele=1280_16675,dbSNP=NULL,"Spondyloepiphyseal dysplasia"
P02458/T1390N "Disease mutation",allele=1280_16677,dbSNP=NULL,"Achondrogenesis II-hypochondrogenesis"
P02458/T1448P "Disease mutation",allele=1280_16682,dbSNP=NULL,"Platyspondylic skeletal dysplasia, Torrance"
Q9Y215/D342E "Disease mutation",allele=8292_35845,dbSNP=NULL,"Endplate acetylcholinesterase deficiency"
P21964/A72S "Disease mutation",allele=1312_12502,dbSNP=rs6267,"Schizophrenia, association with"
P21964/V158M "Disease mutation",allele=1312_12504,dbSNP=rs4680,"Bipolar affective disorder, association with"
Q12887/T196K "Disease mutation",allele=1352_6412,dbSNP=rs104894555,"Cytochrome c oxidase deficiency"
Q12887/N204K "Disease mutation",allele=1352_6413,dbSNP=rs104894560,"Cytochrome c oxidase deficiency"
Q12887/P225L "Disease mutation",allele=1352_6414,dbSNP=rs104894556,"Cytochrome c oxidase deficiency"
Q12887/D336V "Disease mutation",allele=1352_6416,dbSNP=rs104894557,"Cytochrome c oxidase deficiency"
Q96KJ9/E138K "Disease mutation",allele=84701_34994,dbSNP=rs119455950,"Exocrine pancreatic insufficiency and calvarial hyperostosis"
P14854/R20H "Disease mutation",allele=1340_5673,dbSNP=rs121909602,"Cardioencephalomyopathy, severe infantile"
Q9UI42/G303C "Disease mutation",allele=51200_22678,dbSNP=rs2171492,"Prostate cancer, aggressive early-onset, association with"
Q96IY4/A169T "Disease mutation",allele=1361_10147,dbSNP=rs3742264,"Higher TAFI antigen levels, association with"
Q96IY4/T347I "Disease mutation",allele=1361_10148,dbSNP=rs1926447,"Lower TAFI antigen levels, association with"
P15169/G178D "Disease mutation",allele=1369_15592,dbSNP=rs61751507,"Carboxypeptidase N deficiency"
P50416/R123C "Disease mutation",allele=1374_5747,dbSNP=rs80356775,"Carnitine palmitoyltransferase 1 deficiency"
P50416/E360G "Disease mutation",allele=1374_5755,dbSNP=rs28936372,"Carnitine palmitoyltransferase 1 deficiency"
P50416/D454G "Disease mutation",allele=1374_5757,dbSNP=rs80356778,"Carnitine palmitoyltransferase 1 deficiency"
P50416/G709E "Disease mutation",allele=1374_5765,dbSNP=rs28936374,"Carnitine palmitoyltransferase 1 deficiency"
P16562/C196R "Disease mutation",allele=7180_2791,dbSNP=rs36069724,"Reduced GGN1 binding activity, association with"
P02741/L184L "Disease mutation",allele=1401_24157,dbSNP=rs1800947,"CRP level, association with"
O43186/R41W "Disease mutation",allele=1406_5249,dbSNP=rs104894672,"Cone-rod dystrophy"
O43186/A56T "Disease mutation",allele=1406_5251,dbSNP=rs61748437,"Leber congenital amaurosis"
O43186/V66I "Disease mutation",allele=1406_5253,dbSNP=rs61748438,"Leber congenital amaurosis"
O43186/A158T "Disease mutation",allele=1406_5262,dbSNP=rs61748445,"Leber congenital amaurosis ?"
P02489/R12C "Disease mutation",allele=1409_22880,dbSNP=NULL,"Congenital cataract"
P02489/R21W "Disease mutation",allele=1409_22881,dbSNP=NULL,"Congenital cataract"
P02489/R49C "Disease mutation",allele=1409_22883,dbSNP=rs74315441,"Congenital cataract"
P02489/R116C "Disease mutation",allele=1409_22886,dbSNP=rs74315439,"Congenital cataract"
P02511/P20S "Disease mutation",allele=1410_10181,dbSNP=NULL,"Posterior polar cataract"
P02511/R56W "Disease mutation",allele=1410_10182,dbSNP=NULL,"Cataract, juvenile  "
P02511/R120G "Disease mutation",allele=1410_10183,dbSNP=rs28929489,"Myopathy, desmin related"
P02511/D140N "Disease mutation",allele=1410_10184,dbSNP=NULL,"Cataract, lamellar"
P53673/L69P "Disease mutation",allele=1413_22895,dbSNP=rs74315487,"Microphthalmia"
P53673/F94S "Disease mutation",allele=1413_22896,dbSNP=rs74315486,"Cataract, lamellar"
P53673/V36M "Non-disease variant",allele=1413_900166,dbSNP=rs35520672,"NULL"
P53674/S228P "Disease mutation",allele=1414_18104,dbSNP=NULL,"Cataract, autosomal dominant"
P07315/T5P "Disease mutation",allele=1420_35798,dbSNP=rs104893618,"Cataract, coppock-like"
P07315/R168W "Disease mutation",allele=1420_35801,dbSNP=rs28931604,"Cataract"
P07320/R15C "Disease mutation",allele=1421_27881,dbSNP=rs121909595,"Punctate cataract, juvenile progressive"
P07320/P24T "Disease mutation",allele=1421_27883,dbSNP=rs28931605,"Cataract"
P07320/G61C "Disease mutation",allele=1421_27887,dbSNP=rs150857132,"Cataract"
P07320/E107A "Disease mutation",allele=1421_27888,dbSNP=NULL,"Cataract"
P22914/G18V "Disease mutation",allele=1427_22977,dbSNP=rs104893736,"Progressive cortical cataract, autosomal dominant"
P22914/S39C "Disease mutation",allele=1427_22978,dbSNP=NULL,"Cataract, pediatric"
P22914/V42M "Disease mutation",allele=1427_22979,dbSNP=NULL,"Cataract, bilateral congenital"
Q14894/K314T "Disease mutation",allele=1428_2464,dbSNP=rs28929490,"Nonsyndromic deafness"
P09603/L408P "Disease mutation",allele=1435_14149,dbSNP=rs1058885,"Periodontitis, assoc. with ?"
P04141/I117T "Disease mutation",allele=1437_31715,dbSNP=rs25882,"Pulmonary alveolar proteinosis"
P48730/R324H "Disease mutation",allele=1453_13805,dbSNP=NULL,"Adenomatous polyposis coli"
P49674/S408N "Disease mutation",allele=1454_9046,dbSNP=rs77945315,"Sleep disorders, reduced risk, assoc. with"
P50461/W4R "Disease mutation",allele=8048_10329,dbSNP=rs45550635,"Cardiomyopathy, dilated"
P50461/L44P "Disease mutation",allele=8048_10330,dbSNP=rs104894205,"Cardiomyopathy, hypertrophic"
P50461/Q91L "Disease mutation",allele=8048_10337,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P50461/R100H "Disease mutation",allele=8048_10338,dbSNP=rs138218523,"Cardiomyopathy, hypertrophic"
P32929/T67I "Disease mutation",allele=1491_713,dbSNP=rs28941785,"Cystathioninuria"
P32929/Q240E "Disease mutation",allele=1491_714,dbSNP=rs28941786,"Cystathioninuria"
P32929/S403I "Disease mutation",allele=1491_715,dbSNP=rs1021737,"Homocysteine levels, association with"
P16410/I53M "Disease mutation",allele=1493_35703,dbSNP=NULL,"Diabetes, type 1, association with"
Q99895/Q48R "Disease mutation",allele=11330_13315,dbSNP=NULL,"Pancreatitis, chronic"
Q99895/A73T "Disease mutation",allele=11330_13317,dbSNP=NULL,"Pancreatitis, tropical"
Q99895/M200V "Disease mutation",allele=11330_13320,dbSNP=rs146235499,"Pancreatitis, chronic ?"
Q99895/V235I "Disease mutation",allele=11330_13323,dbSNP=rs140993290,"Pancreatitis, tropical"
P08311/N125S "Disease mutation",allele=1511_13801,dbSNP=rs45567233,"Elevated plasma fibrinogen levels, assoc. with"
P43235/G79R "Disease mutation",allele=1513_13781,dbSNP=NULL,"Pycnodysostosis"
P43235/G146R "Disease mutation",allele=1513_13784,dbSNP=rs74315302,"Pycnodysostosis"
P43235/G194S "Disease mutation",allele=1513_13788,dbSNP=NULL,"Pycnodysostosis"
P43235/I249T "Disease mutation",allele=1513_13791,dbSNP=rs199919553,"Pycnodysostosis"
Q13620/T213I "Disease mutation",allele=8450_3369,dbSNP=NULL,"Mental retardation, X-linked"
Q13620/R572C "Disease mutation",allele=8450_3371,dbSNP=rs121434615,"Mental retardation, X-linked"
Q13620/V745A "Disease mutation",allele=8450_3372,dbSNP=NULL,"Mental retardation, X-linked"
Q9H2A7/A200V "Disease mutation",allele=58191_18175,dbSNP=rs2277680,"Atherosclerotic stenosis, increased severity, association with"
P00167/T60A "Disease mutation",allele=1528_1847,dbSNP=rs78009726,"Reduced expression, association with"
P04839/R54G "Disease mutation",allele=1536_17797,dbSNP=NULL,"Chronic granulomatous disease"
P04839/C244S "Disease mutation",allele=1536_17854,dbSNP=rs137854589,"Chronic granulomatous disease"
P04839/P415H "Disease mutation",allele=1536_17911,dbSNP=rs137854585,"Chronic granulomatous disease"
P04839/D500H "Disease mutation",allele=1536_17933,dbSNP=NULL,"Chronic granulomatous disease"
Q53TN4/R226H "Disease mutation",allele=79901_20598,dbSNP=rs62181680,"Iron overload"
P99999/G42S "Disease mutation",allele=54205_10208,dbSNP=rs121918552,"Thrombocytopaenia  "
P15538/L83S "Disease mutation",allele=1584_30865,dbSNP=NULL,"Enzyme function, assoc. with"
P15538/H125R "Disease mutation",allele=1584_30869,dbSNP=NULL,"Enzyme function, assoc. with"
P15538/T318P "Disease mutation",allele=1584_30886,dbSNP=NULL,"Steroid-11 beta-hydroxylase deficiency"
P15538/R448H "Disease mutation",allele=1584_30906,dbSNP=rs28934586,"Steroid-11 beta-hydroxylase deficiency"
P11511/W39R "Disease mutation",allele=1588_22138,dbSNP=rs2236722,"Breast cancer, decreased risk, association with"
P11511/M127R "Disease mutation",allele=1588_22139,dbSNP=NULL,"Aromatase deficiency"
P11511/V370M "Disease mutation",allele=1588_22143,dbSNP=NULL,"Aromatase deficiency"
P11511/R435C "Disease mutation",allele=1588_22146,dbSNP=rs121434534,"Aromatase deficiency"
P04798/T461N "Disease mutation",allele=1543_15154,dbSNP=rs1799814,"Colorectal cancer, reduced risk, association with"
P04798/I462V "Disease mutation",allele=1543_15155,dbSNP=rs1048943,"Lung cancer, smoking induced, association with"
P05177/F186L "Disease mutation",allele=1544_34488,dbSNP=rs72547513,"Reduced catalytic activity, association with"
P05177/R377Q "Disease mutation",allele=1544_34489,dbSNP=rs72547515,"Decreased protein expression, association with"
P05177/R456H "Disease mutation",allele=1544_34490,dbSNP=rs72547517,"Decreased protein expression, association with"
O15528/Q65H "Disease mutation",allele=1594_23768,dbSNP=NULL,"Pseudovitamin D-deficiency rickets"
O15528/R107H "Disease mutation",allele=1594_23769,dbSNP=rs28934604,"Pseudovitamin D-deficiency rickets"
O15528/D164N "Disease mutation",allele=1594_23773,dbSNP=NULL,"Pseudovitamin D-deficiency rickets"
O15528/E189G "Disease mutation",allele=1594_23775,dbSNP=rs118204012,"Pseudovitamin D-deficiency rickets"
P11509/V110L "Disease mutation",allele=1548_30829,dbSNP=rs72549435,"Poor metaboliser, association with"
P11509/L160H "Disease mutation",allele=1548_30831,dbSNP=rs1801272,"Impaired coumarin metabolism, association with"
P11509/V365M "Disease mutation",allele=1548_30834,dbSNP=rs28399454,"Reduced CYP2A6 activity, association with"
P11509/G479V "Disease mutation",allele=1548_30839,dbSNP=rs5031017,"Reduced CYP2A6 activity, association with"
P20813/G99E "Disease mutation",allele=1555_34480,dbSNP=rs36060847,"Enzyme activity, association with"
P20813/K139E "Disease mutation",allele=1555_34481,dbSNP=rs12721655,"Enzyme activity, association with"
P20813/I328T "Disease mutation",allele=1555_34483,dbSNP=rs28399499,"Impaired efavirenz metabolism"
P20813/R487C "Disease mutation",allele=1555_34485,dbSNP=rs3211371,"Reduced expression, association with"
P11712/L90P "Disease mutation",allele=1559_32049,dbSNP=rs72558187,"Poor metaboliser, association with"
P11712/T130R "Disease mutation",allele=1559_32051,dbSNP=NULL,"Impaired diclofenac metabolism"
P11712/I359L "Disease mutation",allele=1559_32062,dbSNP=rs1057910,"Poor metaboliser, association with"
P11712/V490F "Disease mutation",allele=1559_32069,dbSNP=NULL,"Poor metaboliser, association with ?"
P05181/R76H "Disease mutation",allele=1571_23557,dbSNP=rs72559710,"Reduced activity, association with"
P51589/I192N "Disease mutation",allele=1573_17778,dbSNP=rs66515830,"Lower arachidonic acid metabolism, association"
P51589/G312R "Disease mutation",allele=1573_17779,dbSNP=rs150461093,"Loss of enzyme activity, association with"
P51589/N404Y "Disease mutation",allele=1573_17780,dbSNP=rs72547598,"Lower arachidonic & linoleic acid metab., assoc."
P08684/I118V "Disease mutation",allele=1576_22981,dbSNP=rs55951658,"Subarachnoid haemorrhage, association with"
P08684/R130Q "Disease mutation",allele=1576_22982,dbSNP=rs72552799,"Lower activity, association with"
P08684/L373F "Disease mutation",allele=1576_22989,dbSNP=rs12721629,"Altered activity, association with"
P08684/P467S "Disease mutation",allele=1576_22992,dbSNP=rs4986913,"CYP3A4 variant"
P20815/R28C "Disease mutation",allele=1577_17638,dbSNP=rs55817950,"Gene expression, association with"
P20815/A337T "Disease mutation",allele=1577_17642,dbSNP=rs28383479,"Gene expression, association with"
P20815/F446S "Disease mutation",allele=1577_17643,dbSNP=rs41279854,"Gene expression, association with"
Q9HCS2/V90I "Disease mutation",allele=66002_16040,dbSNP=rs609290,"Substrate specificity, assoc. with ?"
P78329/V433M "Disease mutation",allele=8529_34486,dbSNP=rs2108622,"Decreased 20-HETE production, association with"
P78329/L519M "Non-disease variant",allele=8529_900157,dbSNP=rs3093200,"NULL"
P78329/G185V "Non-disease variant",allele=8529_900159,dbSNP=rs3093153,"NULL"
Q6ZWL3/W44R "Disease mutation",allele=285440_18400,dbSNP=rs119103282,"Bietti crystalline corneoretinal dystrophy"
Q6ZWL3/K259Q "Disease mutation",allele=285440_18412,dbSNP=rs13146272,"Deep vein thrombosis, reduced risk, association with"
Q6ZWL3/D324V "Disease mutation",allele=285440_18413,dbSNP=rs199476195,"Bietti crystalline corneoretinal dystrophy"
Q6ZWL3/P396L "Disease mutation",allele=285440_18419,dbSNP=rs199476202,"Bietti crystalline corneoretinal dystrophy"
O75881/G57R "Disease mutation",allele=9420_34630,dbSNP=rs121908614,"Spastic paraplegia"
O75881/F216S "Disease mutation",allele=9420_34633,dbSNP=rs121908612,"Spastic paraplegia"
O75881/T297A "Disease mutation",allele=9420_34635,dbSNP=NULL,"Spastic paraplegia"
O75881/R486C "Disease mutation",allele=9420_34641,dbSNP=rs116171274,"Spastic paraplegia"
Q8N465/D375Y "Disease mutation",allele=728294_16347,dbSNP=rs267606759,"D-2-hydroxyglutaric aciduria"
Q8N465/G436V "Disease mutation",allele=728294_16348,dbSNP=NULL,"D-2-hydroxyglutaric aciduria"
Q8N465/N439D "Disease mutation",allele=728294_16349,dbSNP=rs121434362,"D-2-hydroxyglutaric aciduria"
Q8N465/V444A "Disease mutation",allele=728294_16350,dbSNP=rs121434360,"D-2-hydroxyglutaric aciduria"
P59103/R30K "Disease mutation",allele=267012_32313,dbSNP=rs2391191,"Schizophrenia, association with ?"
Q6PI48/S45G "Disease mutation",allele=55157_18294,dbSNP=rs121918209,"Leukoencephalopathy, brain & spine involvement, lactate elev."
Q6PI48/C152F "Disease mutation",allele=55157_18295,dbSNP=rs121918208,"Leukoencephalopathy, brain & spine involvement, lactate elev."
Q6PI48/R179H "Disease mutation",allele=55157_18296,dbSNP=rs121918210,"Leukoencephalopathy, brain & spine involvement, lactate elev."
Q6PI48/Y629C "Disease mutation",allele=55157_18306,dbSNP=NULL,"Leukoencephalopathy, brain & spine involvement, lactate elev."
P09172/D114E "Disease mutation",allele=1621_10872,dbSNP=rs77576840,"Norepinephrine deficiency"
P09172/C269F "Disease mutation",allele=1621_10873,dbSNP=NULL,"Dopamine beta hydroxylase deficiency"
P09172/R549C "Disease mutation",allele=1621_10874,dbSNP=rs6271,"Reduced DBH activity, association with"
P09172/Y556C "Disease mutation",allele=1621_10875,dbSNP=NULL,"Dopamine beta hydroxylase deficiency"
P27707/I24V "Disease mutation",allele=1633_31396,dbSNP=rs66878317,"Reduced activity, association with"
P27707/A119G "Disease mutation",allele=1633_31397,dbSNP=rs66472932,"Reduced activity, association with"
P27707/P122S "Disease mutation",allele=1633_31398,dbSNP=rs67437265,"Reduced activity, association with"
Q96SD1/H35D "Disease mutation",allele=64421_21006,dbSNP=rs121908159,"Omenn syndrome"
Q96SD1/G118V "Disease mutation",allele=64421_21008,dbSNP=NULL,"Immunodeficiency, severe combined"
Q96SD1/G135E "Disease mutation",allele=64421_21009,dbSNP=NULL,"Immunodeficiency, severe combined"
Q14203/M571T "Disease mutation",allele=1639_23465,dbSNP=rs121909343,"Amyotrophic lateral sclerosis"
Q14203/R785W "Disease mutation",allele=1639_23466,dbSNP=rs121909344,"Amyotrophic lateral sclerosis"
Q14203/R997W "Disease mutation",allele=1639_23467,dbSNP=NULL,"Amyotrophic lateral sclerosis"
Q14203/T1249I "Disease mutation",allele=1639_23469,dbSNP=rs72466496,"Amyotrophic lateral sclerosis"
O43602/L43S "Disease mutation",allele=1641_15594,dbSNP=NULL,"Lissencephaly syndrome, X linked"
O43602/S47R "Disease mutation",allele=1641_15595,dbSNP=rs104894783,"Lissencephaly syndrome, X linked"
O43602/R178C "Disease mutation",allele=1641_15613,dbSNP=NULL,"Subcortical band heterotopia"
O43602/G253D "Disease mutation",allele=1641_15636,dbSNP=NULL,"Double cortex syndrome"
Q92466/K244E "Disease mutation",allele=1643_6418,dbSNP=rs121434639,"Xeroderma pigmentosum (E)"
Q92466/R273H "Disease mutation",allele=1643_6419,dbSNP=rs121434640,"Xeroderma pigmentosum (E)"
Q92466/D307Y "Disease mutation",allele=1643_6420,dbSNP=rs121434642,"Xeroderma pigmentosum (E)"
Q92466/L350P "Disease mutation",allele=1643_6422,dbSNP=NULL,"Xeroderma pigmentosum (E)"
Q9UHI6/R693S "Disease mutation",allele=11218_3314,dbSNP=rs197414,"Bladder cancer, increased risk, association with"
P60022/V38I "Disease mutation",allele=1672_19454,dbSNP=rs2738047,"Chronic obstructive pulmonary disease, association"
Q0ZLH3/T54I "Disease mutation",allele=494513_32888,dbSNP=rs118203988,"Auditory neuropathy"
Q0ZLH3/R265C "Disease mutation",allele=494513_32892,dbSNP=rs17304212,"Progressive hearing loss, autosomal recessive"
Q0ZLH3/R265G "Disease mutation",allele=494513_32893,dbSNP=NULL,"Progressive hearing loss, autosomal recessive"
Q0ZLH3/G292R "Disease mutation",allele=494513_32894,dbSNP=NULL,"Progressive hearing loss, autosomal recessive"
Q16854/K51Q "Disease mutation",allele=1716_13757,dbSNP=NULL,"Mitochondrial DNA depletion syndrome"
Q16854/S107P "Disease mutation",allele=1716_13763,dbSNP=NULL,"Mitochondrial DNA depletion syndrome"
Q16854/R142K "Disease mutation",allele=1716_13765,dbSNP=rs104893631,"Mitochondrial DNA depletion syndrome"
Q16854/D255Y "Disease mutation",allele=1716_13775,dbSNP=rs104893633,"Mitochondrial DNA depletion syndrome"
Q15392/E191K "Disease mutation",allele=1718_8534,dbSNP=rs28939093,"Desmosterolosis"
Q15392/N294T "Disease mutation",allele=1718_8535,dbSNP=rs74315308,"Desmosterolosis"
Q15392/K306N "Disease mutation",allele=1718_8536,dbSNP=rs74315307,"Desmosterolosis"
Q15392/Y471S "Disease mutation",allele=1718_8537,dbSNP=rs28939092,"Desmosterolosis"
Q9NRI5/R37W "Disease mutation",allele=27185_36756,dbSNP=rs202102981,"Schizophrenia ?"
O60832/F36V "Disease mutation",allele=1736_12094,dbSNP=rs121912293,"Dyskeratosis congenita, X-linked"
O60832/R158W "Disease mutation",allele=1736_12107,dbSNP=rs199422246,"Dyskeratosis congenita, X-linked"
O60832/P409L "Disease mutation",allele=1736_12123,dbSNP=rs121912289,"Dyskeratosis congenita, X-linked"
Q9UBP4/G335R "Disease mutation",allele=27122_8711,dbSNP=rs3206824,"Leukemia, association with"
P09622/K72E "Disease mutation",allele=1738_23758,dbSNP=rs121964987,"Dihydrolipoamide dehydrogenase deficiency"
P09622/G229C "Disease mutation",allele=1738_23759,dbSNP=rs121964990,"Dihydrolipoamide dehydrogenase deficiency"
P09622/E375K "Disease mutation",allele=1738_23761,dbSNP=rs121964992,"Dihydrolipoamide dehydrogenase deficiency"
P09622/I393T "Disease mutation",allele=1738_23762,dbSNP=rs121964991,"Dihydrolipoamide dehydrogenase deficiency"
Q14565/M200V "Disease mutation",allele=11144_32386,dbSNP=rs2227914,"Premature ovarian failure"
P11532/D3187G "Disease mutation",allele=1756_16294,dbSNP=NULL,"Muscular dystrophy, Duchenne"
P11532/C3207R "Disease mutation",allele=1756_16296,dbSNP=NULL,"Muscular dystrophy, Duchenne"
P11532/D3335H "Disease mutation",allele=1756_16308,dbSNP=NULL,"Muscular dystrophy, Duchenne"
P11532/A3421V "Disease mutation",allele=1756_16322,dbSNP=rs104894791,"Muscular dystrophy, Duchenne"
O00429/A395D "Disease mutation",allele=10059_3902,dbSNP=rs121908531,"Microcephaly, optic atrophy and hypoplasia, lactic acidemia"
P50570/G358R "Disease mutation",allele=1785_23195,dbSNP=rs267606772,"Charcot-Marie-Tooth disease"
P50570/E368K "Disease mutation",allele=1785_23196,dbSNP=rs121909092,"Centronuclear myopathy"
P50570/R465W "Disease mutation",allele=1785_23200,dbSNP=rs121909091,"Centronuclear myopathy"
P50570/S619L "Disease mutation",allele=1785_23207,dbSNP=rs121909095,"Centronuclear myopathy"
Q9H3H5/Y170C "Disease mutation",allele=1798_7517,dbSNP=rs28934876,"Congenital disorder of glycosylation 1j"
O60762/R92G "Disease mutation",allele=8813_10348,dbSNP=rs121908583,"Congenital disorder of glycosylation 1e"
O60762/S248P "Disease mutation",allele=8813_10349,dbSNP=NULL,"Congenital disorder of glycosylation 1e"
Q12882/C29R "Disease mutation",allele=1806_16853,dbSNP=rs1801265,"Dihydropyrimidine dehydrogenase deficiency ?"
Q12882/P86L "Disease mutation",allele=1806_16855,dbSNP=NULL,"Dihydropyrimidine dehydrogenase deficiency"
Q14117/G278D "Disease mutation",allele=1807_16043,dbSNP=NULL,"Dihydropyramidinase deficiency"
Q14117/Q334R "Disease mutation",allele=1807_16044,dbSNP=rs121964923,"Dihydropyramidinase deficiency"
Q14117/R412M "Disease mutation",allele=1807_16046,dbSNP=rs267606774,"Dihydropyramidinase deficiency"
P21728/T37P "Disease mutation",allele=1812_36023,dbSNP=rs5327,"Reduced basal signalling, association with"
P21728/T37R "Disease mutation",allele=1812_36024,dbSNP=rs5328,"Reduced basal signalling, association with"
P21728/S199A "Disease mutation",allele=1812_36026,dbSNP=rs5331,"Reduced basal signalling, association with"
P21728/A229T "Disease mutation",allele=1812_36027,dbSNP=rs13306309,"Reduced basal signalling, association with"
P14416/V154I "Disease mutation",allele=1813_11460,dbSNP=rs104894220,"Myoclonus dystonia"
P14416/P310S "Disease mutation",allele=1813_11461,dbSNP=rs1800496,"Impaired inhibition of intracellular cAMP, association with"
P14416/S311C "Disease mutation",allele=1813_11462,dbSNP=rs1801028,"Schizophrenia, association with"
P14416/P319P "Disease mutation",allele=1813_11463,dbSNP=rs6277,"Alcohol dependence, association with"
P35462/S9G "Disease mutation",allele=1814_32004,dbSNP=rs6280,"Tardive dyskinesia in schizophrenia, association ?"
Q9Y4J8/P121L "Disease mutation",allele=1837_10059,dbSNP=rs104894654,"Left ventricular noncompaction with CHD"
Q96EV8/P272S "Disease mutation",allele=84062_12575,dbSNP=rs17470454,"Colorectal cancer, increased risk, assoc. with"
Q9BVJ7/G131S "Disease mutation",allele=54935_6468,dbSNP=rs1129923,"Lung cancer, susceptibility to, association with"
Q7RTS9/E87K "Disease mutation",allele=54808_20547,dbSNP=rs120074164,"Smith-McCort dysplasia"
Q7RTS9/N469Y "Disease mutation",allele=54808_20553,dbSNP=rs120074163,"Dyggve-Melchior-Clausen syndrome ?"
Q7RTS9/C542R "Disease mutation",allele=54808_20555,dbSNP=rs120074165,"Smith-McCort dysplasia"
Q15125/L18P "Disease mutation",allele=10682_3562,dbSNP=rs104894795,"Chondrodysplasia punctata, X-linked"
Q15125/E80K "Disease mutation",allele=10682_3573,dbSNP=rs28936073,"Chondrodysplasia punctata, X-linked"
Q15125/G157S "Disease mutation",allele=10682_3589,dbSNP=NULL,"Chondrodysplasia punctata, X-linked"
Q15125/W196S "Disease mutation",allele=10682_3597,dbSNP=NULL,"Chondrodysplasia punctata, X-linked"
P14138/A17T "Disease mutation",allele=1908_9969,dbSNP=rs11570255,"Hirschsprung disease"
P14138/E48D "Disease mutation",allele=1908_9970,dbSNP=NULL,"Hirschsprung disease"
P14138/C159F "Disease mutation",allele=1908_9973,dbSNP=rs74315384,"Shah-Waardenburg syndrome"
P14138/A224T "Disease mutation",allele=1908_9977,dbSNP=rs11570351,"Hirschsprung disease"
P24530/V111E "Disease mutation",allele=1910_13923,dbSNP=NULL,"Hirschsprung disease"
P24530/M132I "Disease mutation",allele=1910_13924,dbSNP=NULL,"Hirschsprung disease"
P24530/W276C "Disease mutation",allele=1910_13937,dbSNP=rs104894387,"Hirschsprung disease"
P24530/R434C "Disease mutation",allele=1910_13947,dbSNP=NULL,"Melanoma ?"
Q12805/R345W "Disease mutation",allele=2202_12683,dbSNP=rs121434491,"Malattia leventinese"
Q5JVL4/P77T "Disease mutation",allele=114327_14138,dbSNP=rs149055334,"Myoclonic epilepsy, juvenile"
Q5JVL4/R221H "Disease mutation",allele=114327_14141,dbSNP=rs79761183,"Myoclonic epilepsy, juvenile"
Q5JVL4/A394S "Disease mutation",allele=114327_14147,dbSNP=NULL,"Idiopathic epilepsy, generalised"
Q5JVL4/T508R "Disease mutation",allele=114327_14148,dbSNP=NULL,"Myoclonic epilepsy, juvenile"
Q5JVL4/R159W "Non-disease variant",allele=114327_900199,dbSNP=rs3804506,"NULL"
Q5JVL4/M448T "Non-disease variant",allele=114327_900201,dbSNP=rs1266787,"NULL"
P98172/C64Y "Disease mutation",allele=1947_3682,dbSNP=NULL,"Craniofrontonasal syndrome"
P98172/P119T "Disease mutation",allele=1947_3698,dbSNP=NULL,"Craniofrontonasal syndrome"
P98172/S182R "Disease mutation",allele=1947_3715,dbSNP=NULL,"Craniofrontonasal syndrome"
Q9GZT9/P317R "Disease mutation",allele=54583_16848,dbSNP=rs80358193,"Erythrocytosis, familial, 3"
Q9GZT9/R371H "Disease mutation",allele=54583_16849,dbSNP=rs119476044,"Erythrocytosis"
Q9GZT9/H374R "Disease mutation",allele=54583_16850,dbSNP=rs119476045,"Erythrocytosis and paraganglioma"
P11161/I268N "Disease mutation",allele=1959_17701,dbSNP=rs104894158,"Neuropathy, congenital hypomyelinating"
P11161/R381H "Disease mutation",allele=1959_17706,dbSNP=rs281865137,"Charcot-Marie-Tooth disease 1"
P11161/E412K "Disease mutation",allele=1959_17709,dbSNP=rs121434563,"Dejerine-Sottas syndrome"
Q14232/V183F "Disease mutation",allele=1967_31386,dbSNP=NULL,"Leukoencephalopathy with vanishing white matter"
Q14232/N208Y "Disease mutation",allele=1967_31387,dbSNP=rs113994007,"Leukoencephalopathy with vanishing white matter"
Q14232/Y275C "Disease mutation",allele=1967_31388,dbSNP=NULL,"Leukoencephalopathy with vanishing white matter"
Q14232/P278R "Disease mutation",allele=1967_31389,dbSNP=NULL,"Leukoencephalopathy with vanishing white matter"
P49770/S171F "Disease mutation",allele=8892_12139,dbSNP=rs104894428,"Ovarioleukodystrophy"
P49770/G200A "Disease mutation",allele=8892_12143,dbSNP=rs113994012,"Leukoencephalopathy with vanishing white matter"
P49770/E213G "Disease mutation",allele=8892_12144,dbSNP=rs104894425,"Leukoencephalopathy with vanishing white matter"
P49770/V316D "Disease mutation",allele=8892_12149,dbSNP=rs104894426,"Leukoencephalopathy with vanishing white matter"
Q9UI10/A227V "Disease mutation",allele=8890_6441,dbSNP=rs113994027,"Leukoencephalopathy with vanishing white matter"
Q9UI10/A390D "Disease mutation",allele=8890_6448,dbSNP=rs113994036,"Leukoencephalopathy with vanishing white matter"
Q9UI10/R306G "Non-disease variant",allele=8890_900170,dbSNP=rs78599355,"NULL"
Q9BQ52/R211Q "Disease mutation",allele=60528_8738,dbSNP=rs148419785,"Prostate cancer"
P08246/A61V "Disease mutation",allele=1991_35869,dbSNP=rs137854447,"Neutropaenia, cyclic"
P08246/C151S "Disease mutation",allele=1991_35887,dbSNP=NULL,"Neutropaenia, congenital"
P08246/G210V "Disease mutation",allele=1991_35894,dbSNP=NULL,"Neutropaenia, congenital"
Q99607/S369P "Disease mutation",allele=2000_10850,dbSNP=NULL,"Hypogammaglobulinaemia ?"
P50402/S54F "Disease mutation",allele=2010_6159,dbSNP=NULL,"Muscular dystrophy, Emery-Dreifuss"
P50402/D72V "Disease mutation",allele=2010_6161,dbSNP=NULL,"Muscular dystrophy, Emery-Dreifuss"
P50402/P183T "Disease mutation",allele=2010_6171,dbSNP=rs104894806,"Muscular dystrophy, Emery-Dreifuss"
P50402/P183H "Disease mutation",allele=2010_6172,dbSNP=rs104894805,"Muscular dystrophy, Emery-Dreifuss"
P16452/A142T "Disease mutation",allele=2038_30753,dbSNP=rs28933988,"Spherocytosis"
P16452/D175Y "Disease mutation",allele=2038_30754,dbSNP=NULL,"Spherocytosis"
P16452/R310Q "Disease mutation",allele=2038_30755,dbSNP=rs121917734,"Spherocytosis"
P16452/R317C "Disease mutation",allele=2038_30756,dbSNP=NULL,"Spherocytosis"
P07099/R43T "Disease mutation",allele=2052_7052,dbSNP=rs3738046,"Increased EPHX1 activity, association with"
P07099/Y113H "Disease mutation",allele=2052_7054,dbSNP=rs1051740,"Epoxide hydrolase deficiency, association with"
P07099/H139R "Disease mutation",allele=2052_7055,dbSNP=rs2234922,"Preeclampsia, association with"
P34913/K55R "Disease mutation",allele=2053_9194,dbSNP=rs41507953,"Increased enzyme activity, association with"
P34913/C154Y "Disease mutation",allele=2053_9196,dbSNP=rs57699806,"Increased enzyme activity, association with"
P34913/R287Q "Disease mutation",allele=2053_9197,dbSNP=rs751141,"Decreased enzyme activity, association with"
P34913/E470G "Disease mutation",allele=2053_9198,dbSNP=rs68053459,"Increased enzyme activity, association with"
O95278/G279S "Disease mutation",allele=7957_16859,dbSNP=rs137852917,"Epilepsy, progressive myoclonus"
O95278/Y294N "Disease mutation",allele=7957_16861,dbSNP=NULL,"Epilepsy, progressive myoclonus"
O95278/P301L "Disease mutation",allele=7957_16862,dbSNP=NULL,"Epilepsy, progressive myoclonus"
O95278/L310W "Disease mutation",allele=7957_16863,dbSNP=NULL,"Myoclonic epilepsy of Lafora"
Q9NZ08/I276M "Disease mutation",allele=51752_2779,dbSNP=rs26618,"Raised blood pressure, association with"
P07992/F231L "Disease mutation",allele=2067_20204,dbSNP=rs121913028,"Cerebro-oculo-facio-skeletal syndrome"
P19447/F99S "Disease mutation",allele=2071_9161,dbSNP=rs121913045,"Cockayne syndrome"
P19447/T232A "Disease mutation",allele=2071_9163,dbSNP=rs201383161,"Lung cancer, susceptibility to"
P19447/K449R "Disease mutation",allele=2071_9165,dbSNP=rs115481013,"Lung cancer, susceptibility to"
P19447/S704L "Disease mutation",allele=2071_9167,dbSNP=rs4150521,"Leukemia, risk , assoc. with ?"
P28715/E399V "Disease mutation",allele=2073_3718,dbSNP=NULL,"Lung cancer, susceptibility to"
P28715/T971A "Disease mutation",allele=2073_3724,dbSNP=rs147955525,"Lung cancer, susceptibility to"
Q13216/Q106P "Disease mutation",allele=1161_11495,dbSNP=NULL,"Cockayne syndrome"
Q13216/A160V "Disease mutation",allele=1161_11496,dbSNP=rs121434325,"Cockayne syndrome"
Q96PL5/E47K "Disease mutation",allele=114625_24345,dbSNP=rs56047316,"Scianna blood group variation"
Q96PL5/G57R "Disease mutation",allele=114625_24346,dbSNP=rs56025238,"Scianna blood group variation"
Q96PL5/P60A "Disease mutation",allele=114625_24347,dbSNP=rs56136737,"Scianna blood group variation"
P03372/P325P "Disease mutation",allele=2099_32881,dbSNP=rs1801132,"Lower femoral neck BMD, association with"
P03372/R548C "Disease mutation",allele=2099_32882,dbSNP=rs182943916,"Precocious puberty"
Q92731/F289L "Disease mutation",allele=2100_2792,dbSNP=NULL,"Reduced binding affinity, association with"
P13804/F144S "Disease mutation",allele=2108_1612,dbSNP=NULL,"Electron transfer flavoprotein deficiency"
P13804/V157G "Disease mutation",allele=2108_1613,dbSNP=rs119458969,"Glutaricacidaemia 2a"
P13804/L212P "Disease mutation",allele=2108_1616,dbSNP=NULL,"Electron transfer flavoprotein deficiency"
P13804/T266M "Disease mutation",allele=2108_1619,dbSNP=rs119458970,"Glutaricacidaemia 2a"
P38117/C42R "Disease mutation",allele=2109_36153,dbSNP=NULL,"Glutaricaciduria 2b"
P38117/D128N "Disease mutation",allele=2109_36154,dbSNP=rs104894678,"Glutaricacidaemia 2b"
P38117/R164W "Disease mutation",allele=2109_36156,dbSNP=rs148045813,"Glutaricacidaemia 2b"
Q16134/Y49C "Disease mutation",allele=2110_12518,dbSNP=NULL,"Glutaricacidaemia 2c"
Q16134/R175H "Disease mutation",allele=2110_12527,dbSNP=NULL,"Glutaricacidaemia 2c"
Q16134/H346R "Disease mutation",allele=2110_12536,dbSNP=NULL,"Glutaricacidaemia 2c"
Q16134/P483L "Disease mutation",allele=2110_12550,dbSNP=NULL,"Acyl-CoA dehydrogenation deficiency"
O95571/Y38C "Disease mutation",allele=23474_5006,dbSNP=NULL,"Encephalopathy, ethylmalonic"
O95571/L55P "Disease mutation",allele=23474_5007,dbSNP=rs182983506,"Encephalopathy, ethylmalonic"
O95571/R163Q "Disease mutation",allele=23474_5014,dbSNP=NULL,"Encephalopathy, ethylmalonic"
O95571/D196N "Disease mutation",allele=23474_5017,dbSNP=NULL,"Encephalopathy, ethylmalonic"
Q8TBG4/S185P "Disease mutation",allele=64850_2311,dbSNP=rs1377210,"Colorectal cancer, increased risk, assoc. with"
Q16394/Q27K "Disease mutation",allele=2131_5929,dbSNP=NULL,"Multiple exostoses"
Q16394/D164H "Disease mutation",allele=2131_5940,dbSNP=NULL,"Osteochondroma"
Q16394/G339D "Disease mutation",allele=2131_5960,dbSNP=rs119103288,"Multiple exostoses"
Q16394/P496L "Disease mutation",allele=2131_5986,dbSNP=NULL,"Multiple exostoses"
Q93063/A150T "Disease mutation",allele=2132_12169,dbSNP=NULL,"Multiple exostoses"
Q93063/D227N "Disease mutation",allele=2132_12181,dbSNP=rs121918280,"Multiple exostoses"
Q93063/I380T "Disease mutation",allele=2132_12194,dbSNP=NULL,"Multiple exostoses"
Q93063/E576K "Disease mutation",allele=2132_12202,dbSNP=NULL,"Multiple exostoses"
Q99502/T55M "Disease mutation",allele=2138_31717,dbSNP=rs201434219,"Branchio-oto-renal syndrome"
Q99502/P216L "Disease mutation",allele=2138_31729,dbSNP=rs200923204,"Ureteropelvic junction obstruction and reduced renal function"
Q99502/R440Q "Disease mutation",allele=2138_31747,dbSNP=rs121909196,"Branchio-oto-renal syndrome"
Q99502/Y527N "Disease mutation",allele=2138_31756,dbSNP=NULL,"Branchio-oto-renal syndrome"
P00742/E54G "Disease mutation",allele=2159_19764,dbSNP=rs121964944,"Factor X deficiency"
P00742/R182M "Disease mutation",allele=2159_19787,dbSNP=NULL,"Factor X deficiency"
P00742/R366C "Disease mutation",allele=2159_19807,dbSNP=rs104894392,"Factor X deficiency"
P00742/V382A "Disease mutation",allele=2159_19810,dbSNP=NULL,"Factor X deficiency"
P03951/Q47H "Disease mutation",allele=2160_31778,dbSNP=NULL,"Factor XI deficiency"
P03951/F301L "Disease mutation",allele=2160_31831,dbSNP=rs121965064,"Factor XI deficiency"
P03951/L360P "Disease mutation",allele=2160_31842,dbSNP=rs281875254,"Factor XI deficiency"
P03951/V516M "Disease mutation",allele=2160_31878,dbSNP=rs200622588,"Factor XI deficiency"
P00748/W505C "Disease mutation",allele=2161_16119,dbSNP=NULL,"Factor XII deficiency"
P00748/C590S "Disease mutation",allele=2161_16123,dbSNP=NULL,"Factor XII deficiency"
P00451/R2182P "Disease mutation",allele=2157_16166,dbSNP=NULL,"Haemophilia A"
P00451/E2200D "Disease mutation",allele=2157_16181,dbSNP=NULL,"Haemophilia A"
P00451/W2248C "Disease mutation",allele=2157_16214,dbSNP=rs137852469,"Haemophilia A"
P00451/R2326Q "Disease mutation",allele=2157_16263,dbSNP=rs137852360,"Haemophilia A"
P00740/E73K "Disease mutation",allele=2158_24496,dbSNP=rs137852225,"Haemophilia B"
P00740/C170Y "Disease mutation",allele=2158_24671,dbSNP=NULL,"Haemophilia B"
P00740/I256T "Disease mutation",allele=2158_24741,dbSNP=NULL,"Haemophilia B"
P00740/C407R "Disease mutation",allele=2158_24983,dbSNP=NULL,"Haemophilia B"
P07148/T94A "Disease mutation",allele=2168_17637,dbSNP=rs2241883,"Increased apo B levels in a high fat diet, assoc."
P12104/A55T "Disease mutation",allele=2169_23116,dbSNP=rs1799883,"Insulin resistance, association with"
Q9BYI3/L53P "Disease mutation",allele=84668_14150,dbSNP=rs72549407,"Hypomyelination & congenital cataract"
O15360/R1055W "Disease mutation",allele=2175_319,dbSNP=NULL,"Fanconi anaemia"
O15360/R880Q "Disease mutation",allele=2175_342,dbSNP=NULL,"Fanconi anaemia"
O15360/L768P "Disease mutation",allele=2175_356,dbSNP=NULL,"Fanconi anaemia"
O15360/V761E "Disease mutation",allele=2175_375,dbSNP=NULL,"Fanconi anaemia"
Q00597/D195V "Disease mutation",allele=2176_13987,dbSNP=rs1800365,"Fanconi anaemia ?"
Q00597/L496R "Disease mutation",allele=2176_13989,dbSNP=rs121917785,"Fanconi anaemia"
Q00597/L554P "Disease mutation",allele=2176_13991,dbSNP=rs104886458,"Fanconi anaemia"
Q9BXW9/L153S "Disease mutation",allele=2177_24292,dbSNP=NULL,"Chemotherapy toxicity, association with"
Q9BXW9/L231R "Disease mutation",allele=2177_24293,dbSNP=NULL,"Fanconi anaemia"
O15287/L71P "Disease mutation",allele=2189_6257,dbSNP=NULL,"Fanconi anaemia ?"
O15287/T297I "Disease mutation",allele=2189_6262,dbSNP=rs2237857,"Fanconi anaemia ?"
O15287/G546R "Disease mutation",allele=2189_6267,dbSNP=NULL,"Fanconi anaemia"
P25445/T74T "Disease mutation",allele=355_4095,dbSNP=rs2229521,"Systemic lupus erythematosus, association with ?"
P25445/H111P "Disease mutation",allele=355_4098,dbSNP=NULL,"Autoimmune lymphoproliferative syndrome"
P25445/T241P "Disease mutation",allele=355_4103,dbSNP=rs121913076,"Autoimmune lymphoproliferative syndrome"
P25445/E272G "Disease mutation",allele=355_4124,dbSNP=NULL,"Autoimmune lymphoproliferative syndrome"
P48023/R156G "Disease mutation",allele=356_13802,dbSNP=rs80358238,"Autoimmune lymphoproliferative syndrome, type 1b"
Q8WUP2/F191S "Disease mutation",allele=54751_15010,dbSNP=rs10927851,"Leukemia, risk, assoc. with"
Q9UBX5/V60L "Disease mutation",allele=10516_34740,dbSNP=rs28939371,"Age-related macular degeneration"
Q9UBX5/Q124P "Disease mutation",allele=10516_34743,dbSNP=NULL,"Age-related macular degeneration"
Q9UBX5/S227P "Disease mutation",allele=10516_34747,dbSNP=rs28939370,"Cutis laxa"
Q9UBX5/G412E "Disease mutation",allele=10516_34751,dbSNP=rs121434303,"Age-related macular degeneration"
P09467/G164S "Disease mutation",allele=2203_4167,dbSNP=rs121918188,"Fructose-1,6-bisphosphatase deficiency"
P09467/F194S "Disease mutation",allele=2203_4169,dbSNP=rs121918191,"Fructose-1,6-bisphosphatase deficiency"
P09467/N213K "Disease mutation",allele=2203_4170,dbSNP=NULL,"Fructose-1,6-bisphosphatase deficiency"
P09467/G260R "Disease mutation",allele=2203_4172,dbSNP=NULL,"Fructose-1,6-bisphosphatase deficiency"
P09467/R218K "Non-disease variant",allele=2203_900206,dbSNP=rs1769259,"NULL"
P09467/F233I "Non-disease variant",allele=2203_900209,dbSNP=rs2297085,"NULL"
Q9Y3I1/T22M "Disease mutation",allele=25793_9874,dbSNP=rs121918305,"Parkinsonian-pyramidal syndrome"
Q9Y3I1/R378G "Disease mutation",allele=25793_9875,dbSNP=rs71799110,"Parkinsonian-pyramidal syndrome"
P24071/R108R "Disease mutation",allele=2204_15519,dbSNP=rs1865096,"Aggressive periodontitis, reduced risk, assoc with"
P24071/D113N "Disease mutation",allele=2204_15520,dbSNP=rs11666735,"Myocardial Infarction, assoc. with"
P31994/I232T "Disease mutation",allele=2213_14872,dbSNP=rs1050501,"Altered receptor signalling, association with"
P08637/R72S "Disease mutation",allele=2214_15557,dbSNP=rs403016,"Systemic lupus erytematosus, association with"
P08637/L102H "Disease mutation",allele=2214_15559,dbSNP=rs10127939,"Recurrent respiratory tract infection, association"
P08637/L102R "Disease mutation",allele=2214_15560,dbSNP=rs10127939,"Higher binding capacities, association with"
P08637/V212F "Disease mutation",allele=2214_15561,dbSNP=rs396991,"Wegeners granulomatosis relapse, association with"
P37268/K45R "Disease mutation",allele=2222_6802,dbSNP=rs11549147,"Increased total cholesterol, association with"
P22830/G55C "Disease mutation",allele=2235_35018,dbSNP=rs3848519,"Protoporphyria, erythropoietic"
P22830/E178K "Disease mutation",allele=2235_35031,dbSNP=NULL,"Protoporphyria, erythropoietic"
P22830/S264L "Disease mutation",allele=2235_35043,dbSNP=NULL,"Protoporphyria, erythropoietic"
P22830/V362G "Disease mutation",allele=2235_35054,dbSNP=NULL,"Protoporphyria, erythropoietic"
O14842/D175N "Disease mutation",allele=2864_32035,dbSNP=NULL,"Decreased activity, assoc. with"
O14842/G180S "Disease mutation",allele=2864_32036,dbSNP=rs146654047,"Loss of FFA receptor function"
P02671/R35H "Disease mutation",allele=2243_30916,dbSNP=rs121909607,"Dysfibrinogenaemia"
P02671/S453N "Disease mutation",allele=2243_30942,dbSNP=rs121909610,"Dysfibrinogenaemia"
P02671/E559V "Disease mutation",allele=2243_30950,dbSNP=NULL,"Amyloidosis, renal"
P02675/H97L "Disease mutation",allele=2244_25138,dbSNP=NULL,"Hypofibrinogenaemia"
P02675/L202Q "Disease mutation",allele=2244_25145,dbSNP=rs121909624,"Afibrinogenaemia"
P02675/A365T "Disease mutation",allele=2244_25155,dbSNP=rs121909617,"Fibrinogen variant"
P02675/L383R "Disease mutation",allele=2244_25157,dbSNP=rs121909621,"Afibrinogenaemia"
Q96M96/M298T "Disease mutation",allele=121512_35127,dbSNP=rs63749871,"Charcot-Marie-Tooth disease 4H"
O15520/R80S "Disease mutation",allele=2255_22931,dbSNP=rs104893888,"Aplasia of lacrimal and salivary glands"
O15520/C106F "Disease mutation",allele=2255_22932,dbSNP=rs104893885,"Lacrimo-auriculo-dento-digital syndrome"
O15520/G138E "Disease mutation",allele=2255_22934,dbSNP=rs104893889,"Aplasia of lacrimal and salivary glands"
O15520/I156R "Disease mutation",allele=2255_22935,dbSNP=rs104893886,"Lacrimo-auriculo-dento-digital syndrome"
Q92915/F145S "Disease mutation",allele=2259_24352,dbSNP=rs104894393,"Cerebral ataxia, autosomal dominant"
P55075/H14N "Disease mutation",allele=2253_33231,dbSNP=rs137852659,"Hypogonadotropic hypogonadism, idiopathic"
P55075/P197R "Disease mutation",allele=2253_33232,dbSNP=NULL,"Hypospadias"
P21802/S267F "Disease mutation",allele=2263_34919,dbSNP=NULL,"Crouzon syndrome"
P21802/Y328C "Disease mutation",allele=2263_34937,dbSNP=rs121918493,"Crouzon syndrome"
P21802/N549H "Disease mutation",allele=2263_34968,dbSNP=NULL,"Crouzon syndrome"
P21802/R678G "Disease mutation",allele=2263_34977,dbSNP=NULL,"Crouzon syndrome"
P02679/A108G "Disease mutation",allele=2266_9987,dbSNP=rs148685782,"Hypofibrinogenaemia"
P02679/C165Y "Disease mutation",allele=2266_9989,dbSNP=NULL,"Dysfibrinogenaemia"
P02679/G318V "Disease mutation",allele=2266_10009,dbSNP=rs121913089,"Dysfibrinogenaemia"
P02679/D356V "Disease mutation",allele=2266_10029,dbSNP=rs121913094,"Dysfibrinogenaemia"
P07954/R160G "Disease mutation",allele=2271_5856,dbSNP=NULL,"Leiomyomatosis and renal cell cancer"
P07954/A308T "Disease mutation",allele=2271_5873,dbSNP=rs121913118,"Fumarase deficiency"
P07954/L507P "Disease mutation",allele=2271_5905,dbSNP=NULL,"Multiple leiomyomatosis"
Q13642/C101F "Disease mutation",allele=2273_11971,dbSNP=NULL,"Reducing body myopathy"
Q13642/W122S "Disease mutation",allele=2273_11973,dbSNP=rs122458140,"Scapuloperoneal myopathy"
Q13642/C153Y "Disease mutation",allele=2273_11981,dbSNP=rs122458145,"Reducing body myopathy"
Q13642/C224W "Disease mutation",allele=2273_11982,dbSNP=rs122458141,"X-linked myopathy with postural muscle atrophy"
O75344/F72L "Disease mutation",allele=8468_18108,dbSNP=rs3750075,"Infertility, protection against, association with"
O75344/R202H "Non-disease variant",allele=8468_900211,dbSNP=rs142831087,"NULL"
O75072/A114T "Disease mutation",allele=2218_34524,dbSNP=rs119463995,"Muscular dystrophy, limb girdle"
O75072/R179T "Disease mutation",allele=2218_34530,dbSNP=rs119463994,"Muscular dystrophy, Fukuyama"
O75072/C250G "Disease mutation",allele=2218_34534,dbSNP=NULL,"Muscular dystrophy, Fukuyama"
O75072/Y371C "Disease mutation",allele=2218_34541,dbSNP=rs119464998,"Muscular dystrophy, Fukuyama"
Q8NFG4/R239C "Disease mutation",allele=201163_13751,dbSNP=rs78683075,"Renal cell carcinoma"
P17948/R54S "Disease mutation",allele=2321_34991,dbSNP=rs141440705,"Cardiomyopathy, dilated"
Q01740/H97Q "Disease mutation",allele=2326_18965,dbSNP=rs56841822,"FMO1 variant"
Q01740/I303V "Disease mutation",allele=2326_18966,dbSNP=rs16864314,"FMO1 variant"
Q01740/I303T "Disease mutation",allele=2326_18967,dbSNP=rs28360418,"FMO1 variant"
Q01740/K373R "Non-disease variant",allele=2326_900168,dbSNP=rs28360421,"NULL"
Q99518/D36G "Disease mutation",allele=2327_10411,dbSNP=rs2020870,"FMO2 variant"
Q99518/F182S "Disease mutation",allele=2327_10413,dbSNP=rs2307492,"FMO2 variant"
Q99518/R238Q "Disease mutation",allele=2327_10415,dbSNP=rs28369895,"FMO2 variant"
Q99518/R391T "Disease mutation",allele=2327_10416,dbSNP=rs28369899,"FMO2 variant"
P31513/D132H "Disease mutation",allele=2328_17218,dbSNP=rs12072582,"FMO3 variant"
P31513/P153L "Disease mutation",allele=2328_17221,dbSNP=rs72549326,"Trimethylaminuria"
P31513/L360P "Disease mutation",allele=2328_17233,dbSNP=rs28363581,"FMO3 variant"
P31513/G503R "Disease mutation",allele=2328_17243,dbSNP=rs72549335,"FMO3 variant"
P31513/G180V "Non-disease variant",allele=2328_900165,dbSNP=rs75904274,"NULL"
P31513/V277A "Non-disease variant",allele=2328_900169,dbSNP=rs2066530,"NULL"
P55318/G91R "Disease mutation",allele=3171_393,dbSNP=NULL,"Impaired glucose homeostasis ?"
Q12950/W148R "Disease mutation",allele=2298_34508,dbSNP=NULL,"Dilated cardiomyopathy, OCD and suicidality"
Q12951/G335V "Disease mutation",allele=2299_34979,dbSNP=NULL,"Pendred syndrome"
O15409/R553H "Disease mutation",allele=93986_28011,dbSNP=rs121908377,"Developmental verbal dyspraxia"
Q9BZS1/Q70H "Disease mutation",allele=50943_27193,dbSNP=NULL,"IPEX syndrome"
Q9BZS1/P187L "Disease mutation",allele=50943_27195,dbSNP=NULL,"IPEX syndrome"
Q9BZS1/L242P "Disease mutation",allele=50943_27196,dbSNP=NULL,"IPEX syndrome"
Q9BZS1/I363V "Disease mutation",allele=50943_27199,dbSNP=NULL,"IPEX syndrome"
Q9BZS1/G52V "Non-disease variant",allele=50943_900167,dbSNP=rs17847095,"NULL"
P21462/I11T "Disease mutation",allele=2357_10281,dbSNP=rs5030878,"Increased activity, association with ?"
P21462/V101L "Disease mutation",allele=2357_10282,dbSNP=rs2070745,"Periodontitis, aggressive, association with"
P21462/F110S "Disease mutation",allele=2357_10283,dbSNP=NULL,"Periodontitis, juvenile, association with"
P21462/C126W "Disease mutation",allele=2357_10284,dbSNP=NULL,"Periodontitis, juvenile, association with"
P01225/C69G "Disease mutation",allele=2488_27667,dbSNP=rs5030776,"Follicle-stimulating hormone deficiency"
P01225/C100R "Disease mutation",allele=2488_27669,dbSNP=rs5030777,"Follicle-stimulating hormone deficiency"
P23945/I160T "Disease mutation",allele=2492_30845,dbSNP=rs121909659,"Secondary amenorrhea"
P23945/A189V "Disease mutation",allele=2492_30846,dbSNP=rs121909658,"Hypergonadotropic ovarian failure"
P23945/T449A "Disease mutation",allele=2492_30853,dbSNP=rs121909663,"Ovarian hyperstimulation syndrome"
P23945/L601V "Disease mutation",allele=2492_30860,dbSNP=NULL,"Primary amenorrhea"
P02794/K54R "Disease mutation",allele=2495_18535,dbSNP=rs186448909,"Parkinson disease ?"
P02792/T30I "Disease mutation",allele=2512_8429,dbSNP=NULL,"Hyperferritinaemia"
P02792/R40G "Disease mutation",allele=2512_8430,dbSNP=NULL,"Hyperferritinaemia-cataract syndrome"
P02792/A96T "Disease mutation",allele=2512_8431,dbSNP=rs104894685,"Neuroferritinopathy"
P02792/H133P "Disease mutation",allele=2512_8432,dbSNP=NULL,"Altered protein folding, association with"
P04066/G65D "Disease mutation",allele=2517_14084,dbSNP=NULL,"Fucosidosis"
P04066/S68L "Disease mutation",allele=2517_14085,dbSNP=NULL,"Fucosidosis"
P04066/N334Y "Disease mutation",allele=2517_14091,dbSNP=NULL,"Fucosidosis"
P04066/L410R "Disease mutation",allele=2517_14096,dbSNP=rs80358199,"Fucosidosis"
P35637/R524T "Disease mutation",allele=2521_7688,dbSNP=NULL,"Amyotrophic lateral sclerosis  "
P19526/G90V "Disease mutation",allele=2523_35322,dbSNP=NULL,"H antigen, para-Bombay phenotype"
P19526/L164H "Disease mutation",allele=2523_35331,dbSNP=rs104894687,"H antigen, Bombay phenotype"
P21217/L20R "Disease mutation",allele=2525_35819,dbSNP=rs28362459,"Lewis antigen, absence"
P21217/S124A "Disease mutation",allele=2525_35823,dbSNP=NULL,"Lewis antigen, absence"
P21217/G223R "Disease mutation",allele=2525_35827,dbSNP=rs28362466,"Lewis antigen, absence"
P21217/I356K "Disease mutation",allele=2525_35830,dbSNP=rs3894326,"Lewis antigen, absence"
Q11130/R110Q "Disease mutation",allele=2529_35701,dbSNP=NULL,"Fucosyltransferase deficiency"
Q16595/L106S "Disease mutation",allele=2395_18350,dbSNP=rs104894105,"Friedreich ataxia"
Q16595/R165C "Disease mutation",allele=2395_18360,dbSNP=rs138034837,"Friedreich ataxia"
Q9ULV1/M105V "Disease mutation",allele=8322_31692,dbSNP=rs80358284,"Exudative vitreoretinopathy"
Q9ULV1/W335C "Disease mutation",allele=8322_31699,dbSNP=rs80358292,"Exudative vitreoretinopathy"
Q9ULV1/R417Q "Disease mutation",allele=8322_31701,dbSNP=rs80358294,"Exudative vitreoretinopathy"
P35575/R83C "Disease mutation",allele=2538_28515,dbSNP=rs1801175,"Glycogen storage disease 1a"
P35575/P113L "Disease mutation",allele=2538_28522,dbSNP=NULL,"Glycogen storage disease 1a"
P35575/G222R "Disease mutation",allele=2538_28547,dbSNP=NULL,"Glycogen storage disease 1a"
P35575/V338F "Disease mutation",allele=2538_28561,dbSNP=NULL,"Glycogen storage disease 1a"
Q9NQR9/Q16H "Disease mutation",allele=57818_27138,dbSNP=NULL,"Hyperinsulinaemia ?"
Q9NQR9/F256L "Disease mutation",allele=57818_27139,dbSNP=rs150538801,"Hyperinsulinaemia ?"
Q9BUM1/L185P "Disease mutation",allele=92579_14171,dbSNP=rs118203969,"Neutropaenia with cardiac and urogenital malformations"
Q9BUM1/R253H "Disease mutation",allele=92579_14172,dbSNP=rs118203968,"Neutropaenia with cardiac and urogenital malformations"
Q9BUM1/G260R "Disease mutation",allele=92579_14173,dbSNP=rs200478425,"Neutropaenia with cardiac and urogenital malformations"
Q9BUM1/G262R "Disease mutation",allele=92579_14174,dbSNP=NULL,"Neutropaenia with cardiac and urogenital malformations"
P10253/Y191C "Disease mutation",allele=2548_19059,dbSNP=NULL,"Glycogen storage disease 2"
P10253/V949D "Disease mutation",allele=2548_19210,dbSNP=NULL,"Glycogen storage disease 2"
Q9UBS5/G489S "Disease mutation",allele=2550_18292,dbSNP=rs1805057,"Temporal lobe epilepsy, association with"
Q16445/R46W "Disease mutation",allele=2559_30825,dbSNP=NULL,"Idiopathic epilepsy, generalised ?"
O14764/E177A "Disease mutation",allele=2563_17686,dbSNP=rs121434580,"Epilepsy, risk, association with"
O14764/R220C "Disease mutation",allele=2563_17687,dbSNP=rs139300921,"Epilepsy, risk, association with"
O14764/R220H "Disease mutation",allele=2563_17688,dbSNP=rs41307846,"Epilepsy, risk, association with"
P18507/R82Q "Disease mutation",allele=2566_35352,dbSNP=rs121909673,"Epilepsy, childhood absence with febrile seizures"
P18507/R177G "Disease mutation",allele=2566_35353,dbSNP=rs267606837,"Febrile seizures"
P18507/K328M "Disease mutation",allele=2566_35354,dbSNP=rs121909672,"Generalized epilepsy with febrile seizures plus"
Q99259/S12C "Disease mutation",allele=2571_2390,dbSNP=rs121918345,"Cerebral palsy, spastic, symmetric, autosomal recessive"
Q14376/N34S "Disease mutation",allele=2582_4651,dbSNP=rs121908046,"Galactosaemia epimerase deficiency"
Q14376/G90E "Disease mutation",allele=2582_4654,dbSNP=rs28940882,"Galactosaemia epimerase deficiency"
Q14376/L183P "Disease mutation",allele=2582_4661,dbSNP=rs121908045,"Galactosaemia epimerase deficiency"
Q14376/G319E "Disease mutation",allele=2582_4667,dbSNP=rs28940885,"Galactosaemia epimerase deficiency"
P34059/G116S "Disease mutation",allele=2588_19862,dbSNP=NULL,"Mucopolysaccharidosis IVa"
P34059/N204K "Disease mutation",allele=2588_19890,dbSNP=rs118204435,"Mucopolysaccharidosis IVa"
P34059/S295F "Disease mutation",allele=2588_19906,dbSNP=rs149239881,"Mucopolysaccharidosis IVa"
Q14435/T272K "Disease mutation",allele=2591_29544,dbSNP=rs137853090,"Tumoural calcinosis"
P07902/Y34N "Disease mutation",allele=2592_803,dbSNP=rs111033836,"Galactosaemia"
P07902/G175D "Disease mutation",allele=2592_866,dbSNP=rs111033718,"Galactosaemia"
P07902/R272H "Disease mutation",allele=2592_919,dbSNP=rs111033831,"Galactosaemia"
P07902/H319Q "Disease mutation",allele=2592_938,dbSNP=NULL,"Galactosaemia"
Q14353/W20S "Disease mutation",allele=2593_10797,dbSNP=rs80338734,"Guanidinoacetate methyltransferase deficiency"
Q14353/H51P "Disease mutation",allele=2593_10799,dbSNP=NULL,"Guanidinoacetate methyltransferase deficiency"
Q14353/D135Y "Disease mutation",allele=2593_10802,dbSNP=NULL,"Guanidinoacetate methyltransferase deficiency"
Q14353/T209M "Disease mutation",allele=2593_10807,dbSNP=rs17851582,"Arginine:glycine amidinotransferase deficiency ?"
Q9H2C0/R15S "Disease mutation",allele=8139_18536,dbSNP=rs119485093,"Giant axonal neuropathy"
Q9H2C0/Y299C "Disease mutation",allele=8139_18552,dbSNP=NULL,"Giant axonal neuropathy"
Q9H2C0/I423T "Disease mutation",allele=8139_18559,dbSNP=rs119485091,"Giant axonal neuropathy"
Q9H2C0/E486K "Disease mutation",allele=8139_18562,dbSNP=rs119485088,"Giant axonal neuropathy"
P15976/V205M "Disease mutation",allele=2623_11497,dbSNP=rs104894815,"Dyserythropoietic anaemia and thrombocytopaenia"
P15976/G208R "Disease mutation",allele=2623_11498,dbSNP=NULL,"Dyserythropoietic anaemia and thrombocytopaenia"
P15976/R216Q "Disease mutation",allele=2623_11500,dbSNP=rs104894809,"Thrombocytopaenia 1"
P15976/D218G "Disease mutation",allele=2623_11502,dbSNP=rs104894816,"Thrombocytopaenia 1"
Q04446/L224P "Disease mutation",allele=2632_12777,dbSNP=rs137852886,"Glycogen storage disease 4"
Q04446/Y329S "Disease mutation",allele=2632_12783,dbSNP=rs80338671,"Glycogen storage disease 4"
Q04446/A491P "Disease mutation",allele=2632_12784,dbSNP=NULL,"Glycogen storage disease 4 ?"
Q04446/H545R "Disease mutation",allele=2632_12790,dbSNP=rs137852889,"Glycogen storage disease 4"
P02774/D432E "Disease mutation",allele=2638_22372,dbSNP=rs7041,"Vitamin D affinity, association with"
P02774/T436K "Disease mutation",allele=2638_22373,dbSNP=rs4588,"Vitamin D affinity, association with"
Q92947/W50C "Disease mutation",allele=2639_14533,dbSNP=NULL,"Glutaricacidaemia I"
Q92947/E181Q "Disease mutation",allele=2639_14561,dbSNP=NULL,"Glutaricacidaemia I"
Q92947/Y295H "Disease mutation",allele=2639_14584,dbSNP=rs121434366,"Glutaricacidaemia I"
Q92947/R402Q "Disease mutation",allele=2639_14618,dbSNP=NULL,"Glutaricacidaemia I"
Q14397/R518Q "Disease mutation",allele=2646_28496,dbSNP=NULL,"GCKR variant"
P48506/R127C "Disease mutation",allele=2729_18121,dbSNP=NULL,"Gamma-glutamylcysteine synthetase deficiency"
P48506/P158L "Disease mutation",allele=2729_18122,dbSNP=NULL,"Gamma-glutamylcysteine synthetase deficiency"
P48506/H370L "Disease mutation",allele=2729_18123,dbSNP=rs121907946,"Gamma-glutamylcysteine synthetase deficiency"
P48506/P414L "Disease mutation",allele=2729_18124,dbSNP=rs34925335,"Gamma-glutamylcysteine synthetase deficiency"
O75603/R47L "Disease mutation",allele=9247_23001,dbSNP=rs104893959,"Hypoparathyroidism"
O75603/G63S "Disease mutation",allele=9247_23002,dbSNP=rs104893960,"Hypoparathyroidism"
O75603/G203S "Non-disease variant",allele=9247_900204,dbSNP=rs7744163,"NULL"
Q8NFS9/G334R "Disease mutation",allele=2651_28472,dbSNP=NULL,"I blood group variation"
Q8NFS9/G348E "Disease mutation",allele=2651_28473,dbSNP=rs56141211,"I blood group variation"
Q8NFS9/R383H "Disease mutation",allele=2651_28474,dbSNP=rs55940927,"I blood group variation"
Q8TB36/M116T "Disease mutation",allele=54332_3908,dbSNP=NULL,"Charcot-Marie-Tooth disease 4A"
Q8TB36/R161H "Disease mutation",allele=54332_3915,dbSNP=rs104894076,"Charcot-Marie-Tooth disease 4A"
Q8TB36/L239F "Disease mutation",allele=54332_3923,dbSNP=rs104894080,"Charcot-Marie-Tooth disease, autosomal recessive"
Q8TB36/R310Q "Disease mutation",allele=54332_3928,dbSNP=NULL,"Charcot-Marie-Tooth disease, autosomal recessive"
P43026/M173V "Disease mutation",allele=8200_17537,dbSNP=rs28936397,"Brachydactyly, type C"
P43026/C400Y "Disease mutation",allele=8200_17543,dbSNP=rs74315387,"Chondrodysplasia, Grebe type"
O60383/P103S "Disease mutation",allele=2661_30818,dbSNP=rs61754583,"DZ twinning, assoc. with ?"
O60383/V216M "Disease mutation",allele=2661_30821,dbSNP=NULL,"Premature ovarian failure, association with"
O60383/T238A "Disease mutation",allele=2661_30822,dbSNP=NULL,"Premature ovarian failure ?"
O60383/P374L "Disease mutation",allele=2661_30823,dbSNP=NULL,"DZ twinning, assoc. with ?"
P31150/L92P "Disease mutation",allele=2664_5019,dbSNP=rs121434607,"Mental retardation, non-specific, X-linked"
P31150/R423P "Disease mutation",allele=2664_5020,dbSNP=rs121434609,"Mental retardation, non-specific, X-linked"
P39905/P21S "Disease mutation",allele=2668_22890,dbSNP=NULL,"Hirschsprung disease"
P39905/R93W "Disease mutation",allele=2668_22891,dbSNP=rs36119840,"Hirschsprung disease"
P39905/D150N "Disease mutation",allele=2668_22892,dbSNP=rs76466003,"Hirschsprung disease"
P39905/T154S "Disease mutation",allele=2668_22893,dbSNP=rs104893891,"Hirschsprung disease"
P14136/P47L "Disease mutation",allele=2670_5153,dbSNP=rs57474185,"Alexander disease?"
P14136/E207Q "Disease mutation",allele=2670_5180,dbSNP=NULL,"Alexander disease"
P14136/R258P "Disease mutation",allele=2670_5192,dbSNP=rs61726468,"Alexander disease"
P14136/E374G "Disease mutation",allele=2670_5209,dbSNP=rs59628143,"Alexander disease"
P14136/D295N "Non-disease variant",allele=2670_900221,dbSNP=rs1126642,"NULL"
P55789/R194H "Disease mutation",allele=2671_20805,dbSNP=rs121908192,"Myopathy, cataract & combined respiratory-chain deficiency"
Q96RP9/N174S "Disease mutation",allele=85476_19434,dbSNP=rs28939098,"Combined oxidative phosphorylation deficiency"
Q96RP9/S321P "Disease mutation",allele=85476_19435,dbSNP=NULL,"Combined oxidative phosphorylation deficiency"
Q96RP9/M496R "Disease mutation",allele=85476_19436,dbSNP=rs119470020,"Combined oxidative phosphorylation deficiency"
P38435/W157R "Disease mutation",allele=2677_12215,dbSNP=NULL,"Gamma-glutamyl carboxylase deficiency"
P38435/L394R "Disease mutation",allele=2677_12221,dbSNP=rs121909675,"Gamma-glutamyl carboxylase deficiency"
P38435/T591K "Disease mutation",allele=2677_12229,dbSNP=NULL,"Gamma-glutamyl carboxylase deficiency"
Q92820/T151I "Disease mutation",allele=8836_3937,dbSNP=rs11545078,"Reduced catalytic activity, association with"
P01286/L75F "Disease mutation",allele=2691_24296,dbSNP=rs4988492,"Lung cancer, susceptibility to, association with"
Q92847/I134T "Disease mutation",allele=2693_27235,dbSNP=rs4988511,"Decreased receptor expression, association with"
Q92847/V160M "Disease mutation",allele=2693_27236,dbSNP=NULL,"Decreased receptor expression, association with"
Q92847/A204E "Disease mutation",allele=2693_27237,dbSNP=rs121917883,"Obesity"
Q92847/F279L "Disease mutation",allele=2693_27238,dbSNP=rs201286192,"Short normal stature"
P27352/S46L "Disease mutation",allele=2694_18114,dbSNP=rs121434322,"Intrinsic factor deficiency"
P27352/I220T "Disease mutation",allele=2694_18115,dbSNP=NULL,"Intrinsic factor deficiency"
P17302/I130T "Disease mutation",allele=2697_2356,dbSNP=NULL,"Oculodentodigital dysplasia"
P17302/E352G "Disease mutation",allele=2697_2385,dbSNP=NULL,"Heart malformations"
P35212/P319S "Disease mutation",allele=2701_23754,dbSNP=rs1764391,"Atherosclerosis, association with"
O75712/G12R "Disease mutation",allele=2707_4176,dbSNP=rs74315315,"Erythrokeratodermia variabilis"
O75712/E100K "Disease mutation",allele=2707_4184,dbSNP=NULL,"Erythrokeratodermia variabilis"
O75712/A194T "Disease mutation",allele=2707_4192,dbSNP=rs117385606,"Deafness, non-syndromic, autosomal recessive"
Q9NTQ9/R22C "Disease mutation",allele=127534_14874,dbSNP=NULL,"Deafness"
Q9NTQ9/R22H "Disease mutation",allele=127534_14875,dbSNP=rs80358212,"Erythrokeratodermia variabilis"
Q9NTQ9/T85P "Disease mutation",allele=127534_14878,dbSNP=rs80358210,"Erythrokeratodermia variabilis"
Q9NTQ9/F137L "Disease mutation",allele=127534_14882,dbSNP=rs80358207,"Erythrokeratodermia variabilis"
O95452/T5M "Disease mutation",allele=10804_17675,dbSNP=rs104894414,"Deafness, autosomal dominant 3"
O95452/V37E "Disease mutation",allele=10804_17677,dbSNP=rs104894416,"Hidrotic ectodermal dysplasia"
O95452/A40V "Disease mutation",allele=10804_17678,dbSNP=NULL,"Deafness"
O95452/A88V "Disease mutation",allele=10804_17680,dbSNP=rs28937872,"Hidrotic ectodermal dysplasia"
Q9UKL4/S196S "Disease mutation",allele=57369_36674,dbSNP=rs3743123,"Myoclonic epilepsy, juvenile, association with"
P32189/L61P "Disease mutation",allele=2710_18206,dbSNP=NULL,"Glycerol kinase deficiency"
P32189/C256R "Disease mutation",allele=2710_18210,dbSNP=NULL,"Glycerol kinase deficiency"
P32189/T278M "Disease mutation",allele=2710_18211,dbSNP=NULL,"Glycerol kinase deficiency"
P32189/D440V "Disease mutation",allele=2710_18223,dbSNP=rs132630328,"Glycerol kinase deficiency"
P16278/V240M "Disease mutation",allele=2720_8646,dbSNP=NULL,"Gangliosidosis GM1"
Q53GS7/R569H "Disease mutation",allele=2733_2795,dbSNP=rs121434407,"Lethal congenital contracture syndrome 1"
Q53GS7/V617M "Disease mutation",allele=2733_2796,dbSNP=rs121434408,"Lethal arthrogryposis with ant. horn cell disease"
Q53GS7/I684T "Disease mutation",allele=2733_2797,dbSNP=rs121434409,"Lethal arthrogryposis with ant. horn cell disease"
P15104/R324C "Disease mutation",allele=2752_12151,dbSNP=rs80358214,"Glutamine deficiency"
P15104/R341C "Disease mutation",allele=2752_12152,dbSNP=rs80358215,"Glutamine deficiency"
P17900/C138R "Disease mutation",allele=2760_11240,dbSNP=rs137852797,"Gangliosidosis GM2"
P17900/R169P "Disease mutation",allele=2760_11241,dbSNP=rs104893892,"Gangliosidosis GM2"
P17900/L174R "Disease mutation",allele=2760_11242,dbSNP=NULL,"Gangliosidosis GM2"
P63092/V92E "Disease mutation",allele=2778_16693,dbSNP=NULL,"Albright hereditary osteodystrophy"
P63092/I103T "Disease mutation",allele=2778_16697,dbSNP=NULL,"Albright hereditary osteodystrophy"
P63092/R201C "Disease mutation",allele=2778_16711,dbSNP=NULL,"McCune-Albright syndrome"
P63092/A366S "Disease mutation",allele=2778_16735,dbSNP=rs137854537,"Pseudohypoparathyroidism 1a, with testotoxicosis"
P11488/G38D "Disease mutation",allele=2779_36733,dbSNP=rs104893740,"Nightblindness, stationary"
P11488/Q200E "Disease mutation",allele=2779_36734,dbSNP=NULL,"Nightblindness, stationary"
Q9Y223/L179F "Disease mutation",allele=10020_32504,dbSNP=NULL,"Inclusion body myopathy"
Q9Y223/R263L "Disease mutation",allele=10020_32513,dbSNP=rs121908623,"Sialuria"
Q9Y223/A460V "Disease mutation",allele=10020_32524,dbSNP=rs121908631,"Myopathy, distal, with rimmed vacuoles"
Q9Y223/A591T "Disease mutation",allele=10020_32537,dbSNP=NULL,"Myopathy, distal, with rimmed vacuoles"
Q14749/L50P "Disease mutation",allele=27232_17726,dbSNP=rs121907888,"Glycine N-methyltransferase deficiency"
Q14749/N141S "Disease mutation",allele=27232_17727,dbSNP=NULL,"Glycine N-methyltransferase deficiency"
Q14749/H177N "Disease mutation",allele=27232_17728,dbSNP=rs121907889,"Glycine N-methyltransferase deficiency"
Q3T906/K4Q "Disease mutation",allele=79158_7941,dbSNP=rs34159654,"Mucolipidosis IIIA"
P30968/Q11K "Disease mutation",allele=2798_27241,dbSNP=rs142842994,"Hypogonadotropic hypogonadism, isolated"
P30968/Q106R "Disease mutation",allele=2798_27247,dbSNP=rs104893836,"Hypogonadotropic hypogonadism"
P30968/S217R "Disease mutation",allele=2798_27256,dbSNP=rs104893839,"Hypogonadotropic hypogonadism"
P30968/Y284C "Disease mutation",allele=2798_27260,dbSNP=rs28933074,"Hypogonadotropic hypogonadism"
P14770/C24R "Disease mutation",allele=2815_15582,dbSNP=rs28933378,"Bernard-Soulier syndrome"
P14770/F71S "Disease mutation",allele=2815_15586,dbSNP=rs121918037,"Bernard-Soulier syndrome"
P14770/C113Y "Disease mutation",allele=2815_15588,dbSNP=NULL,"Bernard-Soulier syndrome"
Q9HCL2/E131G "Disease mutation",allele=57678_2595,dbSNP=rs10787428,"Lung cancer, susceptibility to, association with"
P51654/G200R "Disease mutation",allele=2719_22023,dbSNP=NULL,"Simpson-Golabi-Behmel syndrome"
P51654/W296R "Disease mutation",allele=2719_22026,dbSNP=rs104894854,"Simpson-Golabi-Behmel syndrome"
P51654/G556R "Disease mutation",allele=2719_22030,dbSNP=rs267606850,"Simpson-Golabi-Behmel syndrome"
P43304/H264R "Disease mutation",allele=2820_14966,dbSNP=rs2116665,"Increased plasma FFA and glycerol levels"
Q8IV16/G56R "Disease mutation",allele=338328_23398,dbSNP=NULL,"Chylomicronaemia"
Q8IV16/Q115P "Disease mutation",allele=338328_23399,dbSNP=NULL,"Chylomicronaemia"
Q15743/R63Q "Disease mutation",allele=8111_30748,dbSNP=rs2230339,"Lung cancer, susceptibility to, association with"
P07203/P200L "Disease mutation",allele=2876_6150,dbSNP=rs1050450,"Lung cancer, association with"
P42263/R450Q "Disease mutation",allele=2892_27918,dbSNP=NULL,"Mental retardation, X-linked"
P42263/R631S "Disease mutation",allele=2892_27919,dbSNP=rs137852351,"Mental retardation, X-linked"
P42263/M706T "Disease mutation",allele=2892_27920,dbSNP=rs137852352,"Mental retardation, X-linked"
P28799/A9D "Disease mutation",allele=2896_3613,dbSNP=rs63751243,"Frontotemporal dementia"
P28799/P248L "Disease mutation",allele=2896_3622,dbSNP=rs63750344,"Frontotemporal dementia"
P28799/R432C "Disease mutation",allele=2896_3634,dbSNP=rs63750130,"Frontotemporal dementia"
P28799/P451L "Disease mutation",allele=2896_3635,dbSNP=NULL,"Alzheimer disease, increased risk"
P30550/C6S "Disease mutation",allele=2925_35704,dbSNP=rs75623611,"Autism ?"
Q96QA5/R18Q "Disease mutation",allele=284110_24415,dbSNP=rs3894194,"Asthma, increased risk, association with ?"
P48637/R283C "Disease mutation",allele=2937_9487,dbSNP=rs121909309,"Glutathione synthetase deficiency"
P09210/P110S "Disease mutation",allele=2939_8562,dbSNP=rs2234951,"Reduced activity, association with"
P78417/A236V "Disease mutation",allele=9446_5695,dbSNP=rs11509439,"Reduced enzyme activity, association with"
P30711/D43N "Disease mutation",allele=2952_10205,dbSNP=rs199521920,"GSTT1 variant"
P30711/T65M "Disease mutation",allele=2952_10206,dbSNP=NULL,"GSTT1 variant"
P30711/T104P "Disease mutation",allele=2952_10207,dbSNP=rs11550605,"Non-conjugator phenotype, association with"
O43708/G42R "Disease mutation",allele=2954_13696,dbSNP=rs7972,"Altered enzyme activity, association with"
Q6ZYL4/L21P "Disease mutation",allele=404672_20330,dbSNP=rs121434365,"Trichothiodystrophy"
P08236/P148S "Disease mutation",allele=2990_13195,dbSNP=rs121918177,"Mucopolysaccharidosis VII"
P08236/L243P "Disease mutation",allele=2990_13201,dbSNP=NULL,"Mucopolysaccharidosis VII"
P08236/R382C "Disease mutation",allele=2990_13213,dbSNP=rs121918173,"Mucopolysaccharidosis VII"
P08236/Y626H "Disease mutation",allele=2990_13231,dbSNP=NULL,"Mucopolysaccharidosis VII"
P02724/R50W "Disease mutation",allele=2993_10274,dbSNP=NULL,"Haemolytic disease of the newborn"
P02724/E24G "Non-disease variant",allele=2993_900191,dbSNP=rs7687256,"NULL"
P06028/T48M "Disease mutation",allele=2994_32306,dbSNP=rs7683365,"Ss blood group variation"
Q14520/G534E "Disease mutation",allele=3026_16049,dbSNP=rs7080536,"Carotid stenosis, association with"
P40939/L130P "Disease mutation",allele=3030_10831,dbSNP=NULL,"Mitochondrial trifunctional protein deficiency"
P40939/V282D "Disease mutation",allele=3030_10832,dbSNP=rs137852773,"Mitochondrial trifunctional protein deficiency"
P40939/E510Q "Disease mutation",allele=3030_10839,dbSNP=rs137852769,"Mitochondrial trifunctional protein deficiency"
P40939/R676C "Disease mutation",allele=3030_10842,dbSNP=NULL,"Mitochondrial trifunctional protein deficiency"
P55084/R61H "Disease mutation",allele=3032_10810,dbSNP=rs121913132,"Mitochondrial trifunctional protein deficiency"
P55084/T133P "Disease mutation",allele=3032_10814,dbSNP=NULL,"Mitochondrial trifunctional protein deficiency"
P55084/A326P "Disease mutation",allele=3032_10826,dbSNP=NULL,"Mitochondrial trifunctional protein deficiency"
P55084/H379R "Disease mutation",allele=3032_10827,dbSNP=NULL,"Mitochondrial trifunctional protein deficiency"
P42357/R206T "Disease mutation",allele=3034_30757,dbSNP=rs121434327,"Histidinaemia"
P42357/R208L "Disease mutation",allele=3034_30758,dbSNP=rs121434328,"Histidinaemia"
P42357/R322P "Disease mutation",allele=3034_30759,dbSNP=rs121434330,"Histidinaemia"
P68871/L33P "Disease mutation",allele=3043_10498,dbSNP=rs33948578,"Haemoglobin variant"
P68871/D53G "Disease mutation",allele=3043_10525,dbSNP=rs33919924,"Haemoglobin variant"
P68871/F104L "Disease mutation",allele=3043_10601,dbSNP=rs35067717,"Haemoglobin variant"
P68871/A116D "Disease mutation",allele=3043_10626,dbSNP=rs35485099,"Thalassaemia beta"
P69892/V21A "Disease mutation",allele=3047_11516,dbSNP=rs63751196,"Haemoglobin variant"
P69892/H64Y "Disease mutation",allele=3047_11519,dbSNP=rs34474104,"Haemoglobin variant"
P69892/D80H "Disease mutation",allele=3047_11521,dbSNP=rs281864470,"Haemoglobin variant"
P69892/H118R "Disease mutation",allele=3047_11525,dbSNP=rs36049074,"Haemoglobin variant"
P53701/E159K "Disease mutation",allele=3052_12080,dbSNP=rs193929392,"Microphthalmia, syndromic 7"
P53701/R217C "Disease mutation",allele=3052_12082,dbSNP=rs121917889,"Microphthalmia, syndromic 7"
Q6MZN7/V112G "Disease mutation",allele=10866_31345,dbSNP=rs2395029,"Reduced HIV viral load, association with"
O43613/I408V "Disease mutation",allele=3061_35321,dbSNP=rs2271933,"Polydipsia-Hyponatremia, assoc. with"
Q9UBX0/Q6H "Disease mutation",allele=8820_22872,dbSNP=rs121909173,"Pituitary hypoplasia"
Q9UBX0/I26T "Disease mutation",allele=8820_22873,dbSNP=rs28936416,"Pituitary hypoplasia"
Q9UBX0/N125S "Disease mutation",allele=8820_22874,dbSNP=rs9878928,"Pituitary hypoplasia"
Q9UBX0/R160C "Disease mutation",allele=8820_22876,dbSNP=rs28936702,"Septo-optic dysplasia"
P06865/S4P "Disease mutation",allele=3073_11715,dbSNP=rs146938346,"Beta-hexosaminidase pseudodeficiency ?"
P06865/R178H "Disease mutation",allele=3073_11728,dbSNP=rs28941770,"Tay-Sachs disease"
P06865/S279P "Disease mutation",allele=3073_11753,dbSNP=NULL,"Tay-Sachs disease"
P06865/L484P "Disease mutation",allele=3073_11776,dbSNP=NULL,"Tay-Sachs disease"
Q30201/H63D "Disease mutation",allele=3077_35674,dbSNP=rs1799945,"Haemochromatosis, association with"
Q30201/E168Q "Disease mutation",allele=3077_35685,dbSNP=rs146519482,"Haemochromatosis"
Q30201/Q283P "Disease mutation",allele=3077_35694,dbSNP=rs111033563,"Haemochromatosis"
Q6ZVN8/D249H "Disease mutation",allele=148738_21025,dbSNP=NULL,"Haemochromatosis"
Q6ZVN8/G250V "Disease mutation",allele=148738_21026,dbSNP=NULL,"Haemochromatosis"
Q6ZVN8/I281T "Disease mutation",allele=148738_21027,dbSNP=rs74315326,"Haemochromatosis"
Q6ZVN8/R288W "Disease mutation",allele=148738_21028,dbSNP=NULL,"Haemochromatosis"
Q6NVY1/Y122C "Disease mutation",allele=26275_10271,dbSNP=rs121918329,"Neurodegeneration, progressive infantile"
Q16665/P582S "Disease mutation",allele=3091_11107,dbSNP=rs11549465,"Maximal oxygen consumption, association with"
Q16665/A588T "Disease mutation",allele=3091_11108,dbSNP=rs11549467,"Renal carcinoma, association with"
Q9NWT6/P41A "Disease mutation",allele=55662_9254,dbSNP=rs2295778,"Colorectal cancer, increased risk, assoc. with"
P19367/L529S "Disease mutation",allele=3098_8709,dbSNP=rs137853249,"Haemolytic anaemia"
P19367/T680S "Disease mutation",allele=3098_8710,dbSNP=NULL,"Haemolytic anaemia"
P04440/K98E "Disease mutation",allele=3115_9635,dbSNP=rs1042140,"Beryllium disease, chronic, association with"
P17693/T282M "Disease mutation",allele=3135_2598,dbSNP=rs12722482,"Preeclampsia in multigravid pregnancies, association with"
P50747/E42D "Disease mutation",allele=3141_18489,dbSNP=rs61732504,"Holocarboxylase synthetase deficiency?"
P50747/L237P "Disease mutation",allele=3141_18492,dbSNP=rs119103227,"Multiple carboxylase deficiency"
P50747/N511K "Disease mutation",allele=3141_18501,dbSNP=NULL,"Holocarboxylase synthetase deficiency"
P50747/V547G "Disease mutation",allele=3141_18503,dbSNP=NULL,"Holocarboxylase synthetase deficiency"
P08397/D61N "Disease mutation",allele=3145_4825,dbSNP=NULL,"Porphyria, acute intermittent"
P08397/D99G "Disease mutation",allele=3145_4838,dbSNP=NULL,"Porphyria, acute intermittent"
P08397/E209K "Disease mutation",allele=3145_4868,dbSNP=NULL,"Porphyria, acute intermittent"
P08397/G274R "Disease mutation",allele=3145_4909,dbSNP=NULL,"Porphyria, acute intermittent"
P35914/V70L "Disease mutation",allele=3155_5033,dbSNP=rs121964996,"HMG-CoA lyase deficiency"
P35914/S142F "Disease mutation",allele=3155_5037,dbSNP=NULL,"3-hydroxy-3-methylglutaric aciduria"
P35914/R165Q "Disease mutation",allele=3155_5038,dbSNP=rs199587895,"HMG-CoA lyase deficiency"
P35914/L263P "Disease mutation",allele=3155_5047,dbSNP=NULL,"HMG-CoA lyase deficiency"
P54868/V54M "Disease mutation",allele=3158_19296,dbSNP=rs28937320,"Mitochondrial HMG-CoA synthase deficiency"
P54868/F174L "Disease mutation",allele=3158_19298,dbSNP=rs137852636,"Mitochondrial HMG-CoA synthase deficiency"
P54868/G212R "Disease mutation",allele=3158_19299,dbSNP=rs137852638,"Mitochondrial HMG-CoA synthase deficiency"
P54868/R500H "Disease mutation",allele=3158_19301,dbSNP=rs137852639,"Mitochondrial HMG-CoA synthase deficiency"
P41235/C102W "Disease mutation",allele=3172_34706,dbSNP=NULL,"Diabetes, MODY"
P41235/R333H "Disease mutation",allele=3172_34733,dbSNP=NULL,"Diabetes mellitus, type 2"
P50135/T105I "Disease mutation",allele=3176_21502,dbSNP=rs11558538,"Lower HNMT level, association with"
P17509/P42T "Disease mutation",allele=3216_12737,dbSNP=NULL,"Hypospadias"
P17509/C123R "Disease mutation",allele=3216_12738,dbSNP=NULL,"Hypospadias"
P28358/M319K "Disease mutation",allele=3236_23119,dbSNP=rs104893634,"Vertical talus and Charcot-Marie-Tooth disease"
P32754/A33T "Disease mutation",allele=3242_20979,dbSNP=rs1154510,"Hawkinsinsuria"
P32754/Y160C "Disease mutation",allele=3242_20980,dbSNP=rs28934278,"Tyrosinaemia 3"
P32754/A268V "Disease mutation",allele=3242_20983,dbSNP=NULL,"Tyrosinaemia 3"
P32754/I335M "Disease mutation",allele=3242_20984,dbSNP=rs137852868,"Tyrosinaemia 3"
P15428/A140P "Disease mutation",allele=3248_12506,dbSNP=rs121434480,"Osteoarthropathy, hypertrophic"
P15428/S193P "Disease mutation",allele=3248_12507,dbSNP=rs121434481,"Nail clubbing"
P00492/R51G "Disease mutation",allele=3251_14736,dbSNP=rs137852494,"Hypoxanthine guanine phosphoribosyltransferase deficiency"
P00492/G71V "Disease mutation",allele=3251_14761,dbSNP=NULL,"Hypoxanthine guanine phosphoribosyltransferase deficiency"
P00492/V130D "Disease mutation",allele=3251_14778,dbSNP=rs137852483,"Hypoxanthine guanine phosphoribosyltransferase deficiency"
P00492/D194H "Disease mutation",allele=3251_14820,dbSNP=NULL,"Lesch-Nyhan syndrome"
Q92902/L239P "Disease mutation",allele=3257_16108,dbSNP=rs281865080,"Hermansky-Pudlak syndrome"
Q9UPZ3/L624R "Disease mutation",allele=11234_18065,dbSNP=rs281865102,"Hermansky-Pudlak syndrome"
P01112/H27H "Disease mutation",allele=3265_8586,dbSNP=rs12628,"Bladder cancer, association with ?"
P01112/E63K "Disease mutation",allele=3265_8588,dbSNP=rs121917756,"Congenital myopathy with excess of muscle spindles"
P01112/K117R "Disease mutation",allele=3265_8589,dbSNP=rs104894227,"Costello syndrome"
P01112/A146V "Disease mutation",allele=3265_8591,dbSNP=rs121917759,"Costello syndrome"
P04196/G103E "Disease mutation",allele=3273_22980,dbSNP=rs121918122,"Histidine-rich glycoprotein deficiency"
P25021/N217D "Disease mutation",allele=3274_35076,dbSNP=NULL,"Schizophrenia, association with"
P14061/S313G "Disease mutation",allele=3292_34521,dbSNP=rs605059,"Endometriosis, association with   "
Q99714/L122V "Disease mutation",allele=3028_5376,dbSNP=rs28935476,"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency"
Q99714/R130C "Disease mutation",allele=3028_5377,dbSNP=rs28935475,"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency"
Q99714/R192R "Disease mutation",allele=3028_5378,dbSNP=rs122462164,"X-linked mental retardation"
Q99714/N247S "Disease mutation",allele=3028_5381,dbSNP=rs122461163,"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency"
P37059/A111D "Disease mutation",allele=3294_11814,dbSNP=NULL,"Reduced enzyme stability, association with ?"
P37058/A56T "Disease mutation",allele=3293_17262,dbSNP=rs119481078,"Pseudohermaphroditism, male"
P37058/R80Q "Disease mutation",allele=3293_17266,dbSNP=rs119481075,"Pseudohermaphroditism"
P37058/Q176P "Disease mutation",allele=3293_17268,dbSNP=NULL,"Pseudohermaphroditism"
P37058/G289S "Disease mutation",allele=3293_17280,dbSNP=rs2066479,"Prostate cancer, susceptibility, association with"
P51659/G16S "Disease mutation",allele=3295_6007,dbSNP=rs137853096,"D-bifunctional protein deficiency"
P51659/S153L "Disease mutation",allele=3295_6017,dbSNP=NULL,"D-bifunctional protein deficiency"
P51659/G242E "Disease mutation",allele=3295_6026,dbSNP=NULL,"D-bifunctional protein deficiency"
P51659/R506H "Disease mutation",allele=3295_6037,dbSNP=NULL,"D-bifunctional protein deficiency"
Q9UJY1/K141E "Disease mutation",allele=26353_7863,dbSNP=rs104894351,"Neuropathy, distal hereditary motor, type II"
Q9UJY1/K141N "Disease mutation",allele=26353_7864,dbSNP=rs104894345,"Neuropathy, distal hereditary motor, type II"
Q9UJY1/K141N "Disease mutation",allele=26353_7865,dbSNP=rs104894345,"Charcot-Marie-Tooth disease 2L"
Q9UJY1/T194T "Disease mutation",allele=26353_7866,dbSNP=rs4628742,"Charcot-Marie-Tooth disease 2L"
P10809/D29G "Disease mutation",allele=3329_7062,dbSNP=rs72466451,"Spastic paraplegia"
P10809/V98I "Disease mutation",allele=3329_7063,dbSNP=rs66468541,"Spastic paraplegia"
P10809/Q461E "Disease mutation",allele=3329_7064,dbSNP=NULL,"Spastic paraplegia"
P15516/R41Q "Disease mutation",allele=3347_11696,dbSNP=rs1136511,"Histatin 2 deficiency"
P28222/F124C "Disease mutation",allele=3351_30806,dbSNP=rs130060,"Receptor variant"
P41595/R6G "Disease mutation",allele=3357_22418,dbSNP=NULL,"Drug abuse, association with"
P28335/L4V "Disease mutation",allele=3358_36731,dbSNP=rs2228669,"Bipolar affective disorder, association with?"
P28335/C23S "Disease mutation",allele=3358_36732,dbSNP=rs6318,"Hallucinations, in Alzheimer disease, association"
P46098/A33T "Disease mutation",allele=3359_7056,dbSNP=rs117793058,"Impaired function, association with"
P46098/M257I "Disease mutation",allele=3359_7058,dbSNP=NULL,"Impaired function, association with"
P46098/R344H "Disease mutation",allele=3359_7059,dbSNP=rs35815285,"Schizophrenia ?"
P46098/P391R "Disease mutation",allele=3359_7060,dbSNP=NULL,"Schizophrenia ?"
P47898/P15S "Disease mutation",allele=3361_36631,dbSNP=rs11575874,"Schizophrenia, association with"
Q8NHY5/Y268D "Disease mutation",allele=135458_36314,dbSNP=rs1211554,"Leukemia, risk, association with"
Q12794/E268K "Disease mutation",allele=3373_18111,dbSNP=rs104893743,"Mucopolysaccharidosis IX"
Q96M11/D211G "Disease mutation",allele=219844_673,dbSNP=rs104894232,"Hydrolethalus syndrome"
P05362/K56M "Disease mutation",allele=3383_10876,dbSNP=rs5491,"Cerebral malaria, predisposition to, association"
P05362/G241R "Disease mutation",allele=3383_10877,dbSNP=rs1799969,"Graves disease, earlier age of onset, association"
Q9UPZ9/R272Q "Disease mutation",allele=22858_18110,dbSNP=rs118203918,"Endocrine-cerebro-osteodysplasia"
O43837/L132P "Disease mutation",allele=3420_6474,dbSNP=rs137853020,"Retinitis pigmentosa"
P14902/R77H "Disease mutation",allele=3620_15513,dbSNP=rs35099072,"Reduced protein expression, association with"
P22304/D45N "Disease mutation",allele=3423_9365,dbSNP=NULL,"Mucopolysaccharidosis II"
P22304/K135R "Disease mutation",allele=3423_9415,dbSNP=rs104894861,"Mucopolysaccharidosis II"
P22304/Y225D "Disease mutation",allele=3423_9446,dbSNP=NULL,"Mucopolysaccharidosis II"
P22304/P266H "Disease mutation",allele=3423_9465,dbSNP=NULL,"Mucopolysaccharidosis II"
P01571/I184R "Disease mutation",allele=3451_24295,dbSNP=rs9298814,"Sarcoidosis, increased risk, association with"
P17181/V168L "Disease mutation",allele=3454_14899,dbSNP=rs2257167,"Cerebral malaria, association with"
P15260/V61E "Disease mutation",allele=3459_10196,dbSNP=rs121912715,"Mycobacterial infection"
P15260/C77Y "Disease mutation",allele=3459_10199,dbSNP=rs104893974,"Mycobacterial infection"
P15260/I87T "Disease mutation",allele=3459_10200,dbSNP=rs104893973,"BCG infection"
P15260/L467P "Disease mutation",allele=3459_10203,dbSNP=rs1887415,"Allergic disease"
Q9P2H3/H105Q "Disease mutation",allele=57560_27670,dbSNP=rs137853115,"Asphyxiating thoracic dystrophy 2"
Q9P2H3/A701P "Disease mutation",allele=57560_27671,dbSNP=rs137853116,"Asphyxiating thoracic dystrophy 2"
P24593/R138W "Disease mutation",allele=3488_5215,dbSNP=rs11575194,"Lung cancer, susceptibility to, association with"
P38935/R637C "Disease mutation",allele=3508_36623,dbSNP=rs201563456,"Spinal muscular atrophy with resp. distress 1"
Q14623/E131K "Disease mutation",allele=3549_15667,dbSNP=rs121917853,"Brachydactyly type A1"
Q14623/T154I "Disease mutation",allele=3549_15668,dbSNP=rs121917861,"Brachydactyly type A1"
Q14623/V190A "Disease mutation",allele=3549_15669,dbSNP=rs121917857,"Acrocapitofemoral dysplasia"
P22301/G15R "Disease mutation",allele=3586_25904,dbSNP=rs145922845,"Reduced IL10 secretion in Crohn's disease"
P22301/F129Y "Disease mutation",allele=3586_25905,dbSNP=NULL,"Ulcerative colitis, association with ?"
Q13651/S159G "Disease mutation",allele=3587_17414,dbSNP=rs3135932,"Lymphoma , reduced risk, association with ?"
Q13651/G351R "Disease mutation",allele=3587_17415,dbSNP=rs2229113,"Diminished inhibitory effect on TNF-alpha production, association"
P42701/L77P "Disease mutation",allele=3594_15730,dbSNP=NULL,"IL12RB1 deficiency"
P42701/R173P "Disease mutation",allele=3594_15732,dbSNP=NULL,"Mycobacterial infection"
P42701/C186S "Disease mutation",allele=3594_15734,dbSNP=NULL,"IL12RB1 deficiency"
P42701/C198R "Disease mutation",allele=3594_15735,dbSNP=rs121434495,"IL12RB1 deficiency"
Q99665/R313G "Disease mutation",allele=3595_36318,dbSNP=NULL,"Atopy"
Q99665/H720R "Disease mutation",allele=3595_36319,dbSNP=NULL,"Atopy"
Q14116/S35S "Disease mutation",allele=3606_10060,dbSNP=rs549908,"Colonic disease in CARD15 mutation positive individuals, assoc."
P01583/S113A "Disease mutation",allele=3552_5320,dbSNP=rs17561,"Malaria, susceptibility, association with"
P01583/A114S "Non-disease variant",allele=3552_900218,dbSNP=rs17561,"NULL"
P01584/F105F "Disease mutation",allele=3553_5321,dbSNP=rs1143634,"Malaria, severity, association with"
P31785/Y89C "Disease mutation",allele=3561_13838,dbSNP=NULL,"Immunodeficiency, severe combined"
P31785/S108P "Disease mutation",allele=3561_13847,dbSNP=NULL,"Immunodeficiency, severe combined"
P31785/W237R "Disease mutation",allele=3561_13899,dbSNP=NULL,"Immunodeficiency, severe combined"
P31785/R285Q "Disease mutation",allele=3561_13909,dbSNP=rs111033617,"Immunodeficiency, severe combined"
P16871/L55Q "Disease mutation",allele=3575_23540,dbSNP=NULL,"Immunodeficiency, severe combined"
P16871/C74Y "Disease mutation",allele=3575_23541,dbSNP=NULL,"Immunodeficiency, severe combined"
P16871/P132S "Disease mutation",allele=3575_23543,dbSNP=rs104893894,"Immunodeficiency, severe combined"
P16871/P132H "Disease mutation",allele=3575_23544,dbSNP=NULL,"Immunodeficiency, severe combined"
P15248/T117M "Disease mutation",allele=3578_23537,dbSNP=rs2069885,"Trachomatous trichiasis infection, association with"
Q13418/A262V "Disease mutation",allele=3611_3606,dbSNP=NULL,"Cardiomyopathy, dilated"
P12268/L263F "Disease mutation",allele=3615_3607,dbSNP=rs121434586,"Diminished enzyme activity, assoc. with"
P05111/P43A "Disease mutation",allele=3623_9248,dbSNP=rs12720060,"Adrenocortical tumour"
P05111/A182D "Disease mutation",allele=3623_9251,dbSNP=NULL,"Premature ovarian failure"
P05111/A257T "Disease mutation",allele=3623_9253,dbSNP=rs12720062,"Premature ovarian failure"
P01308/F48L "Disease mutation",allele=3630_10255,dbSNP=NULL,"Hyperproinsulinaemia"
P01308/R55C "Disease mutation",allele=3630_10256,dbSNP=rs121908261,"Diabetes, type 1"
P01308/G84R "Disease mutation",allele=3630_10257,dbSNP=rs121908274,"Diabetes, permanent neonatal"
P01308/G90C "Disease mutation",allele=3630_10262,dbSNP=rs80356670,"Diabetes, permanent neonatal"
P51460/R102C "Disease mutation",allele=3640_32980,dbSNP=rs104894698,"Cryptorchidism"
P51460/R105H "Disease mutation",allele=3640_32981,dbSNP=NULL,"Cryptorchidism ?"
Q9NPH2/L343L "Disease mutation",allele=51477_12130,dbSNP=rs2303697,"Spina bifida, reduced risk, association with"
P05107/S138P "Disease mutation",allele=3689_8970,dbSNP=rs137852617,"Leukocyte adhesion deficiency"
P05107/G273R "Disease mutation",allele=3689_8979,dbSNP=rs137852618,"Leukocyte adhesion deficiency"
P05107/C590R "Disease mutation",allele=3689_8985,dbSNP=NULL,"Leukocyte adhesion deficiency"
Q06033/P36P "Disease mutation",allele=3699_25109,dbSNP=rs2286797,"Myocardial infarction, association with"
Q08881/R335W "Disease mutation",allele=3702_25874,dbSNP=rs121908191,"Lymphoproliferative syndrome    "
P26440/L42P "Disease mutation",allele=3712_11081,dbSNP=rs121434284,"Isovaleric acidaemia"
P26440/K315Q "Disease mutation",allele=3712_11098,dbSNP=NULL,"Isovaleric acidaemia"
P26440/V371A "Disease mutation",allele=3712_11101,dbSNP=NULL,"Isovaleric acidaemia"
Q6PHW0/R101W "Disease mutation",allele=389434_22165,dbSNP=rs121918138,"Hypothyroidism"
Q6PHW0/I116T "Disease mutation",allele=389434_22166,dbSNP=rs121918139,"Hypothyroidism"
Q6PHW0/A220T "Disease mutation",allele=389434_22167,dbSNP=rs121918140,"Hypothyroidism"
Q09470/V174F "Disease mutation",allele=3736_36291,dbSNP=rs104894349,"Episodic ataxia / myokymia"
Q09470/F414C "Disease mutation",allele=3736_36312,dbSNP=rs113994118,"Episodic ataxia / myokymia"
P15382/T7I "Disease mutation",allele=3753_3288,dbSNP=rs28933384,"Jervell and Lange-Nielsen syndrome"
P15382/F53S "Disease mutation",allele=3753_3296,dbSNP=rs199473355,"Long QT syndrome"
P15382/D76N "Disease mutation",allele=3753_3299,dbSNP=rs74315445,"Jervell and Lange-Nielsen syndrome"
P15382/W87R "Disease mutation",allele=3753_3302,dbSNP=rs199473361,"Long QT syndrome"
Q9Y6J6/Q9E "Disease mutation",allele=9992_36676,dbSNP=rs16991652,"Cardiac arrhythmia"
Q9Y6J6/F60L "Disease mutation",allele=9992_36681,dbSNP=rs16991654,"Long QT syndrome"
Q9Y6J6/V65M "Disease mutation",allele=9992_36682,dbSNP=rs199473364,"Long QT syndrome"
Q9Y6J6/A116V "Disease mutation",allele=9992_36684,dbSNP=rs199473367,"Cardiac arrhythmia"
Q9Y6H6/T4A "Disease mutation",allele=10008_17326,dbSNP=rs200856070,"Long QT syndrome"
Q9Y6H6/V17M "Disease mutation",allele=10008_17327,dbSNP=NULL,"Atrial fibrillation"
Q9Y6H6/F66F "Disease mutation",allele=10008_17329,dbSNP=rs2270676,"Meniere's disease, association with ?"
Q9Y6H6/R83H "Disease mutation",allele=10008_17330,dbSNP=rs17215437,"Periodic paralysis"
Q8WWG9/M58V "Disease mutation",allele=23704_12735,dbSNP=NULL,"Periodic paralysis ?"
Q8WWG9/E145D "Disease mutation",allele=23704_12736,dbSNP=rs12621643,"Atrial fibrillation, association with"
P48048/K45E "Disease mutation",allele=3758_35357,dbSNP=NULL,"Bartter syndrome"
P48048/I142T "Disease mutation",allele=3758_35372,dbSNP=NULL,"Bartter syndrome"
P48048/A214V "Disease mutation",allele=3758_35380,dbSNP=rs104894246,"Bartter syndrome"
P48048/R311Q "Disease mutation",allele=3758_35386,dbSNP=NULL,"Bartter syndrome"
P78508/R65P "Disease mutation",allele=3766_32282,dbSNP=rs137853066,"Epilepsy, ataxia, sensorineural deafness and tubulopathy"
P78508/G77R "Disease mutation",allele=3766_32283,dbSNP=rs137853072,"Epilepsy, ataxia, sensorineural deafness and tubulopathy"
P78508/P194H "Disease mutation",allele=3766_32284,dbSNP=rs137853073,"Hearing loss, digenic non-syndromic"
P78508/R348C "Disease mutation",allele=3766_32285,dbSNP=rs137853074,"Hearing loss, digenic non-syndromic"
O60928/R162W "Disease mutation",allele=3769_2820,dbSNP=rs121918542,"Snowflake vitreoretinal degeneration"
Q9NPC2/G236R "Disease mutation",allele=51305_36105,dbSNP=rs121908332,"Birk Barel mental retardation dysmorphism syndrome"
O43526/S122L "Disease mutation",allele=3785_16415,dbSNP=rs118192194,"Epilepsy, benign neonatal"
O43526/A196V "Disease mutation",allele=3785_16416,dbSNP=rs118192199,"Epilepsy, benign neonatal"
O43526/Y284C "Disease mutation",allele=3785_16430,dbSNP=rs28939683,"Epilepsy, benign neonatal"
Q8TDN2/L126Q "Disease mutation",allele=169522_24324,dbSNP=NULL,"Cone dystrophy with supernormal rod ERG"
Q8TDN2/E184K "Disease mutation",allele=169522_24330,dbSNP=NULL,"Cone dystrophy with supernormal rod ERG"
Q8TDN2/R213P "Disease mutation",allele=169522_24334,dbSNP=NULL,"Cone dystrophy with supernormal rod ERG"
Q8TDN2/G459D "Disease mutation",allele=169522_24341,dbSNP=rs104894115,"Cone dystrophy with supernormal rod ERG"
P23276/R130W "Disease mutation",allele=3792_7084,dbSNP=rs184131044,"Kell blood group variation"
P23276/T193M "Disease mutation",allele=3792_7089,dbSNP=rs8176058,"Kell blood group variation"
P23276/R406Q "Disease mutation",allele=3792_7102,dbSNP=rs61729041,"Kell blood group variation"
P23276/L597P "Disease mutation",allele=3792_7110,dbSNP=rs8176038,"Kell blood group variation"
O60938/N131D "Disease mutation",allele=11081_17770,dbSNP=NULL,"Cornea plana 2"
O60938/T215K "Disease mutation",allele=11081_17772,dbSNP=rs121917862,"Cornea plana 2"
O60938/N247S "Disease mutation",allele=11081_17773,dbSNP=rs121917858,"Cornea plana 2"
P50053/G40R "Disease mutation",allele=3795_9154,dbSNP=rs104893643,"Essential fructosuria"
P50053/A43T "Disease mutation",allele=3795_9155,dbSNP=rs104893644,"Essential fructosuria"
O60333/S1481N "Disease mutation",allele=23095_16943,dbSNP=rs121908164,"Neural and nonneural tumours"
Q6ZMV9/W719R "Disease mutation",allele=221458_2861,dbSNP=rs20455,"Coronary heart disease, association with"
P21583/N36S "Disease mutation",allele=4254_23169,dbSNP=rs121918653,"Progressive hyperpigmentation"
Q6JEL2/Q216P "Disease mutation",allele=317719_23490,dbSNP=rs116420871,"Oligozoospermia"
Q6JEL2/A313T "Disease mutation",allele=317719_23491,dbSNP=NULL,"Oligozoospermia"
P06870/R77H "Disease mutation",allele=3816_10279,dbSNP=rs5515,"Reduced urinary kallikrein activity, association"
P03952/G123R "Disease mutation",allele=3818_27873,dbSNP=rs121964952,"Prekallikrein deficiency"
P03952/N143S "Disease mutation",allele=3818_27874,dbSNP=rs3733402,"Prekallikrein deficiency"
P03952/A210E "Disease mutation",allele=3818_27875,dbSNP=rs2278542,"Hypertension in drinkers, association with"
P03952/C548Y "Disease mutation",allele=3818_27877,dbSNP=rs121964951,"Prekallikrein deficiency"
P01042/M178T "Disease mutation",allele=3827_22176,dbSNP=rs1656922,"Nephropathy, reduced risk, association with"
O00522/D137G "Disease mutation",allele=889_35268,dbSNP=rs137853139,"Cerebral cavernous malformations"
P04264/L161P "Disease mutation",allele=3848_23287,dbSNP=rs57695159,"Epidermolytic hyperkeratosis"
P13646/R114H "Disease mutation",allele=3860_28238,dbSNP=rs267607388,"White sponge nevus"
P13646/L115P "Disease mutation",allele=3860_28239,dbSNP=rs60906702,"White sponge nevus"
P05783/T103A "Disease mutation",allele=3875_5674,dbSNP=rs61136606,"Liver disease, susceptibility to ?"
P05783/H128L "Disease mutation",allele=3875_5675,dbSNP=rs57758506,"Cryptogenic cirrhosis"
P05783/Q285R "Disease mutation",allele=3875_5680,dbSNP=rs59112368,"Liver disease ?"
P05783/G340R "Disease mutation",allele=3875_5683,dbSNP=rs57370769,"Liver disease, susceptibility to ?"
P35908/Q181P "Disease mutation",allele=3849_30959,dbSNP=rs57510142,"Ichthyosis bullosa, Siemens"
P35908/N186K "Disease mutation",allele=3849_30963,dbSNP=rs61726457,"Ichthyosis bullosa, Siemens"
P35908/I477N "Disease mutation",allele=3849_30966,dbSNP=NULL,"Ichthyosis bullosa, Siemens"
P35908/L484P "Disease mutation",allele=3849_30968,dbSNP=rs61726451,"Ichthyosis bullosa, Siemens"
P35908/G219D "Non-disease variant",allele=3849_900198,dbSNP=rs638043,"NULL"
P02538/N171K "Disease mutation",allele=3853_9178,dbSNP=rs59685571,"Pachyonychia congenita 1"
P02538/F174V "Disease mutation",allele=3853_9179,dbSNP=rs28933087,"Pachyonychia congenita 1"
P02538/I462S "Disease mutation",allele=3853_9184,dbSNP=rs57629991,"Pachyonychia congenita 1"
P02538/A463P "Disease mutation",allele=3853_9186,dbSNP=rs267607462,"Pachyonychia congenita 1"
P02538/N21S "Non-disease variant",allele=3853_900193,dbSNP=rs17845411,"NULL"
P02538/F249L "Non-disease variant",allele=3853_900195,dbSNP=rs201142403,"NULL"
P02538/T552S "Non-disease variant",allele=3853_900196,dbSNP=rs11540301,"NULL"
P02538/V523F "Non-disease variant",allele=3853_900200,dbSNP=rs62617088,"NULL"
P05787/R341C "Disease mutation",allele=3856_3389,dbSNP=rs62636489,"Ulcerative colitis  "
P05787/R341H "Disease mutation",allele=3856_3390,dbSNP=rs57422427,"Cryptogenic liver disease ?"
P05787/V380I "Disease mutation",allele=3856_3392,dbSNP=rs56997521,"Liver disease, susceptibility to ?"
P05787/K464N "Disease mutation",allele=3856_3395,dbSNP=rs201507031,"Inflammatory bowel disease"
Q16719/T198A "Disease mutation",allele=8942_4634,dbSNP=NULL,"Xanthurenic aciduria"
Q9H9P8/G55D "Disease mutation",allele=79944_9296,dbSNP=rs118204021,"L-2-Hydroxyglutaric aciduria"
Q9H9P8/H98R "Disease mutation",allele=79944_9301,dbSNP=rs267607206,"L-2-Hydroxyglutaric aciduria"
Q9H9P8/G211V "Disease mutation",allele=79944_9304,dbSNP=NULL,"L-2-Hydroxyglutaric aciduria"
Q9H9P8/V296E "Disease mutation",allele=79944_9306,dbSNP=NULL,"L-2-Hydroxyglutaric aciduria"
P13473/V310I "Disease mutation",allele=3920_6896,dbSNP=rs104894858,"Danon disease"
P13473/W321R "Disease mutation",allele=3920_6897,dbSNP=rs104894859,"Glycogen storage disease 2b"
Q15031/H324Q "Disease mutation",allele=23395_2599,dbSNP=rs71645922,"Diabetes, type 2, risk, assoc. with ?"
Q14739/N547D "Disease mutation",allele=3930_2053,dbSNP=NULL,"Greenberg skeletal dysplasia"
O75112/D117N "Disease mutation",allele=11155_11603,dbSNP=rs121908338,"Cardiomyopathy, dilated"
O75112/K136M "Disease mutation",allele=11155_11604,dbSNP=NULL,"Cardiomyopathy, dilated"
O75112/A147T "Disease mutation",allele=11155_11605,dbSNP=rs121908333,"Myofibrillar myopathy"
O75112/R268C "Disease mutation",allele=11155_11607,dbSNP=rs121908335,"Myofibrillar myopathy"
P00338/K222E "Disease mutation",allele=3939_22416,dbSNP=NULL,"Lactate dehydrogenase deficiency"
P07195/R172H "Disease mutation",allele=3945_8915,dbSNP=rs118203895,"Lactate dehydrogenase deficiency"
P07195/W325R "Disease mutation",allele=3945_8918,dbSNP=rs267607212,"Lactate dehydrogenase deficiency"
Q5SW96/R238W "Disease mutation",allele=26119_16945,dbSNP=rs41291058,"Hypercholesterolaemia, autosomal recessive"
P41159/R105W "Disease mutation",allele=3952_22833,dbSNP=rs104894023,"Leptin deficiency"
P41159/V110M "Disease mutation",allele=3952_22834,dbSNP=rs1800564,"Low serum leptin levels, association with"
P41159/S141C "Disease mutation",allele=3952_22835,dbSNP=NULL,"Leptin deficiency ?"
Q8NES3/F188L "Disease mutation",allele=3955_2242,dbSNP=rs104894024,"Spondylocostal dysostosis"
O95970/C46R "Disease mutation",allele=9211_2469,dbSNP=rs104894166,"Epilepsy, partial, with auditory features"
O95970/S145R "Disease mutation",allele=9211_2474,dbSNP=NULL,"Epilepsy, lateral temporal lobe, autosom. dominant"
O95970/F318C "Disease mutation",allele=9211_2479,dbSNP=rs28939075,"Epilepsy, partial, with auditory features"
O95970/S473L "Disease mutation",allele=9211_2482,dbSNP=NULL,"Epilepsy, partial, with auditory features"
Q8TAF8/Y127C "Disease mutation",allele=222662_3286,dbSNP=rs104893975,"Nonsyndromic hearing loss, autosomal recessive"
Q8TAF8/T165M "Disease mutation",allele=222662_3287,dbSNP=rs104893976,"Nonsyndromic hearing loss, autosomal recessive"
Q969G2/R84C "Disease mutation",allele=89884_12153,dbSNP=rs121912642,"Pituitary hormone deficiency, combined"
Q969G2/L190R "Disease mutation",allele=89884_12154,dbSNP=rs121912643,"Pituitary hormone deficiency, combined"
Q969G2/A210P "Disease mutation",allele=89884_12155,dbSNP=rs121912641,"Pituitary hormone deficiency, combined"
Q969G2/P389T "Disease mutation",allele=89884_12156,dbSNP=rs145433128,"Pituitary hormone deficiency, severe combined"
P18858/R771W "Disease mutation",allele=3978_35311,dbSNP=rs121434561,"Immunodeficiency"
P49917/A3V "Disease mutation",allele=3981_2942,dbSNP=rs1805389,"Reduced risk of multiple myeloma, association"
P49917/T9I "Disease mutation",allele=3981_2943,dbSNP=rs1805388,"Reduced risk of multiple myeloma, association"
P49917/R278H "Disease mutation",allele=3981_2945,dbSNP=rs104894421,"LIG4 syndrome"
P49917/G469E "Disease mutation",allele=3981_2948,dbSNP=rs104894420,"LIG4 syndrome"
P49917/A857T "Non-disease variant",allele=3981_900183,dbSNP=rs2232642,"NULL"
P55344/F147V "Disease mutation",allele=3982_22937,dbSNP=rs121913555,"Cataract"
P55344/G196E "Disease mutation",allele=3982_22938,dbSNP=NULL,"Cataract"
P38571/Q85R "Disease mutation",allele=3988_3538,dbSNP=NULL,"Cholesterol ester storage disease"
P38571/L200P "Disease mutation",allele=3988_3546,dbSNP=rs121965086,"Cholesterol ester storage disease"
P38571/L294S "Disease mutation",allele=3988_3552,dbSNP=NULL,"Cholesterol ester storage disease"
P38571/G342W "Disease mutation",allele=3988_3557,dbSNP=NULL,"Wolman syndrome"
P11150/N59H "Disease mutation",allele=3990_28876,dbSNP=NULL,"Hepatic lipase deficiency ?"
P11150/N215S "Disease mutation",allele=3990_28881,dbSNP=rs6083,"Hepatic lipase deficiency ?"
P11150/L356F "Disease mutation",allele=3990_28884,dbSNP=rs3829462,"Hepatic lipase deficiency"
P11150/T405M "Disease mutation",allele=3990_28886,dbSNP=rs28933094,"Hepatic lipase deficiency"
Q9Y5X9/T111I "Disease mutation",allele=9388_18376,dbSNP=rs2000813,"Higher plasma HDL cholesterol, association with"
Q9Y5X9/I239T "Disease mutation",allele=9388_18379,dbSNP=NULL,"Higher plasma HDL cholesterol ? "
Q9Y5X9/M342V "Disease mutation",allele=9388_18380,dbSNP=NULL,"Higher plasma HDL cholesterol ? "
Q9Y5X9/N396S "Disease mutation",allele=9388_18381,dbSNP=rs77960347,"Higher plasma HDL cholesterol, association with ?"
Q8WWY8/W108R "Disease mutation",allele=200879_20634,dbSNP=rs267607219,"Hypotrichosis"
Q99732/T49M "Disease mutation",allele=9516_25124,dbSNP=rs141862602,"Charcot-Marie-Tooth disease 1c ?"
Q99732/A111G "Disease mutation",allele=9516_25125,dbSNP=rs281865134,"Charcot-Marie-Tooth disease 1c"
Q99732/G112S "Disease mutation",allele=9516_25126,dbSNP=rs104894519,"Charcot-Marie-Tooth disease 1c"
Q99732/P135S "Disease mutation",allele=9516_25131,dbSNP=NULL,"Charcot-Marie-Tooth disease 1c"
Q99732/I92V "Non-disease variant",allele=9516_900154,dbSNP=rs4280262,"NULL"
P02545/R60G "Disease mutation",allele=4000_7214,dbSNP=rs28928900,"Cardiomyopathy, dilated"
P02545/L162P "Disease mutation",allele=4000_7240,dbSNP=rs267607594,"Muscular dystrophy, Emery-Dreifuss"
P02545/R377L "Disease mutation",allele=4000_7292,dbSNP=rs61672878,"Muscular dystrophy, limb girdle"
O60663/L58W "Disease mutation",allele=4010_27598,dbSNP=NULL,"Nail patella syndrome"
O60663/C80W "Disease mutation",allele=4010_27611,dbSNP=NULL,"Nail patella syndrome"
O60663/C95F "Disease mutation",allele=4010_27617,dbSNP=rs121909488,"Nail patella syndrome"
O60663/T233R "Disease mutation",allele=4010_27649,dbSNP=NULL,"Nail patella syndrome"
P43657/S3T "Disease mutation",allele=10161_31289,dbSNP=NULL,"Hypotrichosis"
P43657/G146R "Disease mutation",allele=10161_31291,dbSNP=rs121434308,"Hypotrichosis"
P43657/E189K "Disease mutation",allele=10161_31294,dbSNP=rs121434309,"Woolly hair"
P43657/C278Y "Disease mutation",allele=10161_31297,dbSNP=NULL,"Woolly hair"
P06858/R102S "Disease mutation",allele=4023_5063,dbSNP=rs118204073,"Lipoprotein lipase deficiency"
P06858/A203T "Disease mutation",allele=4023_5085,dbSNP=rs118204056,"Lipoprotein lipase deficiency"
P06858/I276T "Disease mutation",allele=4023_5110,dbSNP=NULL,"Lipoprotein lipase deficiency"
P06858/E437V "Disease mutation",allele=4023_5145,dbSNP=NULL,"Lipoprotein lipase deficiency"
O95237/S175R "Disease mutation",allele=9227_3345,dbSNP=rs104893848,"Retinal dystrophy, early-onset severe"
P01374/T60N "Disease mutation",allele=4049_3905,dbSNP=rs1041981,"Myocardial infarction, susceptibility, association"
P01374/H51P "Non-disease variant",allele=4049_900227,dbSNP=rs2229092,"NULL"
Q9Y6Y9/T35A "Disease mutation",allele=23643_21336,dbSNP=NULL,"Decreased lipopolysaccharide-induced signaling"
Q9Y6Y9/G56R "Disease mutation",allele=23643_21337,dbSNP=rs6472812,"Decreased endotoxin binding, assoc. with"
P61626/I74T "Disease mutation",allele=4069_11044,dbSNP=rs121913547,"Amyloidosis, systemic"
P61626/F75I "Disease mutation",allele=4069_11045,dbSNP=rs121913549,"Amyloidosis, renal"
P61626/W82R "Disease mutation",allele=4069_11046,dbSNP=NULL,"Amyloidosis, systemic"
P61626/W130R "Disease mutation",allele=4069_11049,dbSNP=NULL,"ALys amyloidosis, systemic"
Q9H0U3/V311G "Disease mutation",allele=84061_18462,dbSNP=rs145245774,"Mental retardation"
P10636/G272V "Disease mutation",allele=4137_31040,dbSNP=rs63750376,"Frontotemporal dementia, with parkinsonism"
P10636/G389R "Disease mutation",allele=4137_31060,dbSNP=rs63750512,"Frontotemporal dementia"
Q00266/A55D "Disease mutation",allele=4143_2057,dbSNP=rs118204002,"Methionine adenosyltransferase deficiency"
Q00266/R199C "Disease mutation",allele=4143_2059,dbSNP=NULL,"Methionine adenosyltransferase deficiency"
Q00266/R264H "Disease mutation",allele=4143_2062,dbSNP=rs72558181,"Methionine adenosyltransferase deficiency"
Q00266/I322M "Disease mutation",allele=4143_2065,dbSNP=rs118204001,"Methionine adenosyltransferase deficiency"
O95243/E346K "Disease mutation",allele=8930_12136,dbSNP=rs140693,"Lung adenocarcinoma, decreased risk, association with"
P11226/R52C "Disease mutation",allele=4153_22964,dbSNP=rs5030737,"Mannose-binding protein deficiency, association"
P11226/G54D "Disease mutation",allele=4153_22965,dbSNP=rs1800450,"Mannose-binding protein deficiency, association"
P11226/G57E "Disease mutation",allele=4153_22966,dbSNP=rs1800451,"Mannose-binding protein deficiency, association"
O43462/M87I "Disease mutation",allele=51360_2951,dbSNP=rs122468177,"Ichthyosis follicularis with atrichia & photophobia"
O43462/W226L "Disease mutation",allele=51360_2952,dbSNP=rs122468180,"Ichthyosis follicularis with atrichia & photophobia"
O43462/H227L "Disease mutation",allele=51360_2953,dbSNP=rs122468176,"Ichthyosis follicularis with atrichia & photophobia"
Q01718/S74I "Disease mutation",allele=4158_31360,dbSNP=rs104894658,"Glucocorticoid deficiency"
Q01718/H139Y "Disease mutation",allele=4158_31370,dbSNP=NULL,"Glucocorticoid deficiency"
Q01718/L198P "Disease mutation",allele=4158_31377,dbSNP=NULL,"Glucocorticoid deficiency"
Q01718/C251F "Disease mutation",allele=4158_31381,dbSNP=rs104894662,"Glucocorticoid deficiency"
P41968/T6K "Disease mutation",allele=4159_31265,dbSNP=rs3746619,"Obesity, association with"
P41968/T280S "Disease mutation",allele=4159_31270,dbSNP=NULL,"Obesity, severe"
Q96RQ3/Q123H "Disease mutation",allele=56922_8924,dbSNP=NULL,"3-methylcrotonyl-CoA carboxylase deficiency"
Q96RQ3/E134K "Disease mutation",allele=56922_8926,dbSNP=NULL,"3-methylcrotonyl-CoA carboxylase deficiency"
Q96RQ3/A289V "Disease mutation",allele=56922_8930,dbSNP=NULL,"3-methylcrotonyl-CoA carboxylase deficiency"
Q96RQ3/L437P "Disease mutation",allele=56922_8938,dbSNP=rs28934882,"3-methylcrotonyl-CoA carboxylase deficiency"
Q9HCC0/E99Q "Disease mutation",allele=64087_20602,dbSNP=rs119103219,"3-methylcrotonyl-CoA carboxylase deficiency"
Q9HCC0/A218T "Disease mutation",allele=64087_20615,dbSNP=NULL,"3-methylcrotonylglycinuria"
Q9HCC0/D340V "Disease mutation",allele=64087_20623,dbSNP=NULL,"3-methylcrotonyl-CoA carboxylase deficiency"
Q9HCC0/K555E "Disease mutation",allele=64087_20628,dbSNP=NULL,"3-methylcrotonyl-CoA carboxylase deficiency"
Q96PE7/R143C "Disease mutation",allele=84693_21930,dbSNP=rs138436961,"Methylmalonic aciduria"
Q96PE7/A76V "Non-disease variant",allele=84693_900217,dbSNP=rs11541017,"NULL"
Q96PE7/R143H "Non-disease variant",allele=84693_900228,dbSNP=rs115175255,"NULL"
Q8NI22/D81Y "Disease mutation",allele=90411_3930,dbSNP=rs78289603,"Factor V and Factor VIII deficiency, combined"
Q8NI22/D89A "Disease mutation",allele=90411_3931,dbSNP=NULL,"Factor V and Factor VIII deficiency, combined"
Q8NI22/D129E "Disease mutation",allele=90411_3933,dbSNP=rs28942113,"Factor V and Factor VIII deficiency, combined"
Q8NI22/Y135N "Disease mutation",allele=90411_3934,dbSNP=NULL,"Factor V and Factor VIII deficiency, combined"
Q99705/Y250H "Disease mutation",allele=2847_6044,dbSNP=NULL,"Obesity"
Q9GZU1/T232P "Disease mutation",allele=57192_6405,dbSNP=NULL,"Mucolipidosis IV"
Q9GZU1/D362Y "Disease mutation",allele=57192_6407,dbSNP=rs121908372,"Mucolipidosis IV"
Q9GZU1/F465L "Disease mutation",allele=57192_6410,dbSNP=NULL,"Mucolipidosis IV"
P51608/S134F "Disease mutation",allele=4204_11287,dbSNP=NULL,"Rett syndrome"
P51608/R306H "Disease mutation",allele=4204_11371,dbSNP=rs61751443,"Rett syndrome"
Q02078/N263S "Disease mutation",allele=4205_20145,dbSNP=rs121918530,"Coronary artery disease and myocardial infarction"
Q02078/P279L "Disease mutation",allele=4205_20146,dbSNP=rs121918529,"Coronary artery disease and myocardial infarction"
Q02078/G283D "Disease mutation",allele=4205_20147,dbSNP=rs121918531,"Coronary artery disease and myocardial infarction"
Q12866/R844C "Disease mutation",allele=10461_31257,dbSNP=NULL,"Rod-cone dystrophy"
Q12866/R909H "Disease mutation",allele=10461_31258,dbSNP=rs149131360,"Retinitis pigmentosa ?"
Q8NHS3/G52R "Disease mutation",allele=256471_3328,dbSNP=NULL,"Neuronal ceroid lipofuscinoses, late infantile"
Q8NHS3/R233G "Disease mutation",allele=256471_3330,dbSNP=NULL,"Neuronal ceroid lipofuscinoses, late infantile"
Q8NHS3/T294K "Disease mutation",allele=256471_3331,dbSNP=rs140948465,"Neuronal ceroid lipofuscinoses, late infantile"
Q8NHS3/G429D "Disease mutation",allele=256471_3336,dbSNP=rs118203976,"Neuronal ceroid lipofuscinoses, late infantile"
Q99735/Q76K "Disease mutation",allele=4258_20804,dbSNP=NULL,"Psoriasis vulgaris"
O15344/P151L "Disease mutation",allele=4281_20178,dbSNP=NULL,"Opitz G/BBB syndrome"
O15344/C266R "Disease mutation",allele=4281_20182,dbSNP=NULL,"Opitz G/BBB syndrome"
O15344/K370E "Disease mutation",allele=4281_20187,dbSNP=NULL,"Opitz G/BBB syndrome"
O15344/L626P "Disease mutation",allele=4281_20201,dbSNP=rs28934611,"Opitz G/BBB syndrome"
Q9UNW1/Q270R "Disease mutation",allele=9562_17760,dbSNP=rs104894171,"Thyroid adenoma, follicular"
P30301/R33C "Disease mutation",allele=4284_27995,dbSNP=NULL,"Cataract, autosomal dominant"
P30301/E134G "Disease mutation",allele=4284_27996,dbSNP=rs121917869,"Cataract, polymorphic and lamellar"
P30301/R233K "Disease mutation",allele=4284_27998,dbSNP=NULL,"Cataract, autosomal dominant"
O75030/N210K "Disease mutation",allele=4286_17249,dbSNP=rs104893745,"Tietz syndrome"
O75030/R217I "Disease mutation",allele=4286_17251,dbSNP=NULL,"Waardenburg syndrome 2"
O75030/S250P "Disease mutation",allele=4286_17252,dbSNP=rs104893744,"Waardenburg syndrome"
O75030/S298P "Disease mutation",allele=4286_17255,dbSNP=rs104893747,"Waardenburg syndrome"
Q15049/G130R "Disease mutation",allele=23209_2836,dbSNP=NULL,"Megalencephalic leukoencephalopathy"
Q15049/A275D "Disease mutation",allele=23209_2848,dbSNP=NULL,"Megalencephalic leukoencephalopathy"
P40692/S44F "Disease mutation",allele=4292_4400,dbSNP=rs63751109,"Colorectal cancer, non-polyposis"
P40692/G244D "Disease mutation",allele=4292_4465,dbSNP=rs63750303,"Colorectal cancer, non-polyposis"
P40692/R472I "Disease mutation",allele=4292_4520,dbSNP=rs63750498,"Colorectal cancer"
P40692/A586D "Disease mutation",allele=4292_4554,dbSNP=rs63750587,"Colorectal cancer, non-polyposis ?"
Q9UHC1/R647C "Disease mutation",allele=27030_28935,dbSNP=rs28756987,"Colorectal cancer, non-polyposis"
Q9UHC1/N1007S "Disease mutation",allele=27030_28944,dbSNP=NULL,"Colorectal cancer, non-polyposis"
Q9BV36/R35W "Disease mutation",allele=79083_11043,dbSNP=rs119473031,"Griscelli syndrome"
Q8IVH4/L89P "Disease mutation",allele=166785_24356,dbSNP=NULL,"Methylmalonic acidaemia"
Q8IVH4/G188R "Disease mutation",allele=166785_24364,dbSNP=NULL,"Methylmalonic acidaemia"
Q8IVH4/G218E "Disease mutation",allele=166785_24367,dbSNP=NULL,"Methylmalonic acidaemia"
Q8IVH4/R359Q "Disease mutation",allele=166785_24372,dbSNP=NULL,"Methylmalonic acidaemia"
Q96EY8/I96T "Disease mutation",allele=326625_30072,dbSNP=NULL,"Methylmalonic aciduria"
Q96EY8/A135T "Disease mutation",allele=326625_30073,dbSNP=rs35648932,"Methylmalonic aciduria and metabolic ketoacidosis"
Q96EY8/R186Q "Disease mutation",allele=326625_30078,dbSNP=NULL,"Methylmalonic aciduria, cblB type"
Q96EY8/R190C "Disease mutation",allele=326625_30079,dbSNP=NULL,"Methylmalonic aciduria, cblB type"
Q9Y4U1/L116P "Disease mutation",allele=25974_9314,dbSNP=rs121918240,"Methylmalonic aciduria"
Q9Y4U1/H122R "Disease mutation",allele=25974_9315,dbSNP=NULL,"Methylmalonic aciduria"
Q9Y4U1/L193P "Disease mutation",allele=25974_9330,dbSNP=NULL,"Methylmalonic aciduria"
Q9Y4U1/R206P "Disease mutation",allele=25974_9336,dbSNP=NULL,"Methylmalonic aciduria"
Q9H3L0/T182N "Disease mutation",allele=27249_2106,dbSNP=rs118204045,"Homocystinuria, cblD type"
Q9H3L0/D246G "Disease mutation",allele=27249_2108,dbSNP=NULL,"Homocystinuria, cblD type"
Q9H3L0/Y249C "Disease mutation",allele=27249_2109,dbSNP=rs118204046,"Homocystinuria, cblD type"
Q9H3L0/L259P "Disease mutation",allele=27249_2111,dbSNP=rs118204044,"Homocystinuria, cblD type"
P09238/G65R "Disease mutation",allele=4319_14632,dbSNP=rs17293607,"Leukemia, risk, assoc. with ?"
P45452/F75S "Disease mutation",allele=4322_23554,dbSNP=rs121909497,"Spondyloepimetaphyseal dysplasia, Missouri type"
P08253/R101H "Disease mutation",allele=4313_14648,dbSNP=rs121912953,"Osteolysis, idiopathic, Saudi type"
P08253/E404K "Disease mutation",allele=4313_14650,dbSNP=rs121912955,"Winchester disease"
O75352/G73E "Disease mutation",allele=9526_6470,dbSNP=rs104894586,"Congenital disorder of glycosylation 1f"
O75352/L74S "Disease mutation",allele=9526_6471,dbSNP=rs104894589,"Congenital disorder of glycosylation 1f"
O75352/L119P "Disease mutation",allele=9526_6472,dbSNP=rs104894587,"Congenital disorder of glycosylation 1f"
P29372/R60C "Disease mutation",allele=4350_14045,dbSNP=rs61753368,"Decreased activity, association with ?"
P34949/M51T "Disease mutation",allele=4351_14061,dbSNP=NULL,"Congenital disorder of glycosylation 1b"
P34949/S102L "Disease mutation",allele=4351_14062,dbSNP=rs104894494,"Congenital disorder of glycosylation 1b"
P34949/G250S "Disease mutation",allele=4351_14068,dbSNP=NULL,"Congenital disorder of glycosylation 1b"
P34949/R418H "Disease mutation",allele=4351_14072,dbSNP=NULL,"Congenital disorder of glycosylation 1b"
Q8TAP9/M144V "Disease mutation",allele=136647_21245,dbSNP=rs137853117,"Trichothiodystrophy, nonphotosensitive"
P39210/G24W "Disease mutation",allele=4358_11055,dbSNP=rs121909725,"Mitochondrial DNA depletion syndrome, hepatocerebral"
P39210/R50W "Disease mutation",allele=4358_11056,dbSNP=rs121909723,"Mitochondrial DNA depletion syndrome, hepatocerebral"
P39210/R50Q "Disease mutation",allele=4358_11057,dbSNP=rs121909721,"Mitochondrial DNA depletion syndrome, hepatocerebral"
P39210/N166K "Disease mutation",allele=4358_11060,dbSNP=rs121909722,"Mitochondrial DNA depletion syndrome, hepatocerebral"
Q01362/E237G "Disease mutation",allele=2206_36022,dbSNP=rs569108,"Asthma, atopic, association with"
P43246/S13I "Disease mutation",allele=4436_14183,dbSNP=rs63749907,"Colorectal cancer"
P43246/L390F "Disease mutation",allele=4436_14276,dbSNP=rs17224367,"Colorectal cancer, non-polyposis ?"
P43246/P622L "Disease mutation",allele=4436_14330,dbSNP=rs28929483,"Colorectal cancer, non-polyposis"
P43246/A834T "Disease mutation",allele=4436_14377,dbSNP=rs63750757,"Colorectal cancer, non-polyposis"
O43196/P803S "Disease mutation",allele=4439_12090,dbSNP=rs1802127,"Leukemia, risk, association with"
P21757/P36A "Disease mutation",allele=4481_23378,dbSNP=NULL,"Prostate cancer?"
P21757/S41Y "Disease mutation",allele=4481_23379,dbSNP=rs145597376,"Prostate cancer?"
P21757/D174Y "Disease mutation",allele=4481_23383,dbSNP=rs72552387,"Prostate cancer"
P21757/K430R "Disease mutation",allele=4481_23386,dbSNP=NULL,"Prostate cancer?"
P26927/R689C "Disease mutation",allele=4485_19368,dbSNP=rs3197999,"Inflammatory bowel disease, association with"
P35548/S63C "Disease mutation",allele=4488_1825,dbSNP=NULL,"Cleft lip ?"
P04731/N27T "Disease mutation",allele=4489_21938,dbSNP=rs11640851,"Diabetes, assoc. with"
Q13496/V49F "Disease mutation",allele=4534_2694,dbSNP=NULL,"Myotubular myopathy"
Q13496/N189S "Disease mutation",allele=4534_2711,dbSNP=rs132630302,"Myotubular myopathy"
Q13496/H469R "Disease mutation",allele=4534_2768,dbSNP=NULL,"Myotubular myopathy"
Q8NCE2/R336Q "Disease mutation",allele=64419_18112,dbSNP=rs121434509,"Myopathy, centronuclear"
P48039/R54W "Disease mutation",allele=4543_28369,dbSNP=rs1800885,"Receptor variant"
P48039/A157V "Disease mutation",allele=4543_28370,dbSNP=rs1800884,"Receptor variant"
O15146/V790M "Disease mutation",allele=4593_25898,dbSNP=rs199476083,"Congenital myasthenic syndrome"
Q03426/H20Q "Disease mutation",allele=4598_727,dbSNP=rs104895335,"Hyperimmunoglobulin D and periodic fever syndrome"
Q03426/P167L "Disease mutation",allele=4598_739,dbSNP=rs104895300,"Hyperimmunoglobulin D and periodic fever syndrome"
Q03426/N205D "Disease mutation",allele=4598_744,dbSNP=rs104895364,"Mevalonic kinase deficiency"
Q03426/N301T "Disease mutation",allele=4598_763,dbSNP=rs121917789,"Mevalonic aciduria"
Q99836/L93P "Disease mutation",allele=4615_276,dbSNP=rs137853065,"MYD88 deficiency"
Q99836/R196C "Disease mutation",allele=4615_277,dbSNP=rs137853064,"MYD88 deficiency"
P23409/A90D "Disease mutation",allele=4618_21034,dbSNP=rs138296448,"Myopathy, dilatative"
P23409/A112S "Disease mutation",allele=4618_21035,dbSNP=rs28928909,"Elevated creatine kinase levels"
P10916/A13T "Disease mutation",allele=4633_11504,dbSNP=rs104894363,"Cardiomyopathy, hypertrophic"
P10916/R58Q "Disease mutation",allele=4633_11509,dbSNP=rs104894369,"Cardiomyopathy, hypertrophic"
P10916/K104E "Disease mutation",allele=4633_11511,dbSNP=rs199474811,"Cardiomyopathy, hypertrophic"
P10916/G162R "Disease mutation",allele=4633_11513,dbSNP=rs199474814,"Cardiomyopathy, hypertrophic"
P08590/A57G "Disease mutation",allele=4634_11701,dbSNP=rs139794067,"Cardiomyopathy, hypertrophic ?"
P08590/R94H "Disease mutation",allele=4634_11702,dbSNP=rs199474703,"Cardiomyopathy, hypertrophic"
P08590/E143K "Disease mutation",allele=4634_11703,dbSNP=rs104893750,"Cardiomyopathy, hypertrophic"
P08590/M149V "Disease mutation",allele=4634_11704,dbSNP=rs104893748,"Cardiomyopathy, hypertrophic"
Q9H1R3/A87V "Disease mutation",allele=85366_31765,dbSNP=rs121908107,"Cardiomyopathy, hypertrophic"
Q9H1R3/A95E "Disease mutation",allele=85366_31766,dbSNP=rs121908108,"Cardiomyopathy, hypertrophic"
O00159/R156W "Disease mutation",allele=4641_23333,dbSNP=rs149353437,"Sensorineural hearing loss, bilateral ?"
O00159/T380M "Disease mutation",allele=4641_23335,dbSNP=rs61750783,"Sensorineural hearing loss, bilateral ?"
O00159/Q750K "Disease mutation",allele=4641_23336,dbSNP=rs140604493,"Sensorineural hearing loss, bilateral ?"
O00159/E831K "Disease mutation",allele=4641_23338,dbSNP=rs61753655,"Sensorineural hearing loss, bilateral ?"
O00160/P84L "Disease mutation",allele=4542_17408,dbSNP=NULL,"Sensorineural hearing loss, bilateral ?"
O00160/K552N "Disease mutation",allele=4542_17411,dbSNP=NULL,"Sensorineural hearing loss, bilateral ?"
Q9NPC6/S48P "Disease mutation",allele=51778_10277,dbSNP=rs199476398,"Cardiomyopathy, hypertrophic"
Q9NPC6/I246M "Disease mutation",allele=51778_10278,dbSNP=rs140126678,"Cardiomyopathy, hypertrophic"
Q9NPC6/Q10P "Non-disease variant",allele=51778_900235,dbSNP=rs76757102,"NULL"
Q8N159/A279P "Disease mutation",allele=162417_25998,dbSNP=NULL,"N-acetylglutamate synthase deficiency"
Q8N159/A518T "Disease mutation",allele=162417_26010,dbSNP=NULL,"N-acetylglutamate synthase deficiency"
P18440/V149I "Disease mutation",allele=9_19486,dbSNP=rs4987076,"Increased activity, association with"
P18440/S214A "Disease mutation",allele=9_19489,dbSNP=rs4986783,"Increased activity, association with"
P18440/D251V "Disease mutation",allele=9_19490,dbSNP=rs56172717,"Slow acetylation, association with"
P11245/R64Q "Disease mutation",allele=10_13996,dbSNP=rs1801279,"Slow acetylation, association with"
P11245/Q145P "Disease mutation",allele=10_14001,dbSNP=rs72554616,"Slow acetylation, association with"
P11245/Y208H "Disease mutation",allele=10_14005,dbSNP=rs56387565,"Slow acetylation, association with"
P11245/G286E "Disease mutation",allele=10_14008,dbSNP=rs1799931,"Slow acetylation, association with"
P14598/R42Q "Disease mutation",allele=653361_7966,dbSNP=rs119103270,"Chronic granulomatous disease"
P14598/T53A "Disease mutation",allele=653361_7967,dbSNP=NULL,"Chronic granulomatous disease"
P14598/K135E "Disease mutation",allele=653361_7970,dbSNP=NULL,"Chronic granulomatous disease"
P14598/G262S "Disease mutation",allele=653361_7974,dbSNP=NULL,"Chronic granulomatous disease"
P19878/R77Q "Disease mutation",allele=4688_6805,dbSNP=rs119103275,"Chronic granulomatous disease"
P19878/G78E "Disease mutation",allele=4688_6806,dbSNP=rs137854519,"Chronic granulomatous disease"
P19878/R395W "Disease mutation",allele=4688_6811,dbSNP=rs13306575,"Chronic granulomatous disease"
P19878/N419I "Disease mutation",allele=4688_6812,dbSNP=rs35012521,"Chronic granulomatous disease"
Q00604/I18K "Disease mutation",allele=4693_17092,dbSNP=NULL,"Exudative vitreoretinopathy"
Q00604/Y44C "Disease mutation",allele=4693_17103,dbSNP=rs104894870,"Norrie disease"
Q00604/S101F "Disease mutation",allele=4693_17132,dbSNP=rs104894883,"Norrie disease"
Q00604/C128R "Disease mutation",allele=4693_17152,dbSNP=NULL,"Norrie disease"
Q9P0J0/K88N "Disease mutation",allele=51079_11956,dbSNP=rs137852869,"Thyroid tumours"
P51970/E109K "Disease mutation",allele=4702_14842,dbSNP=NULL,"Complex I deficiency"
Q9Y375/T207P "Disease mutation",allele=51103_6121,dbSNP=NULL,"Complex I deficiency"
Q9P032/L65P "Disease mutation",allele=29078_19269,dbSNP=rs63751061,"Complex 1 deficiency"
Q5TEU4/L229P "Disease mutation",allele=79133_10408,dbSNP=rs118203929,"Mitochondrial complex 1 deficiency, neonatal"
P28331/Q522K "Disease mutation",allele=4719_16928,dbSNP=NULL,"Complex 1 deficiency"
O75489/T145I "Disease mutation",allele=4722_14856,dbSNP=rs28939714,"Complex 1 deficiency"
O75489/R199W "Disease mutation",allele=4722_14857,dbSNP=rs104894270,"Complex 1 deficiency"
O75489/P223L "Disease mutation",allele=4722_14858,dbSNP=NULL,"Complex 1 deficiency"
O75251/V122M "Disease mutation",allele=374291_10419,dbSNP=rs104894705,"Leigh syndrome"
O75251/R145H "Disease mutation",allele=374291_10420,dbSNP=rs121434479,"Leigh syndrome, association with"
P49821/Y204C "Disease mutation",allele=4723_13729,dbSNP=NULL,"Complex 1 deficiency"
P49821/C206G "Disease mutation",allele=4723_13730,dbSNP=NULL,"Complex 1 deficiency"
P49821/A341V "Disease mutation",allele=4723_13733,dbSNP=rs121913660,"Complex 1 deficiency"
P49821/T423M "Disease mutation",allele=4723_13735,dbSNP=rs121913659,"Complex 1 deficiency"
Q96FI4/G83D "Disease mutation",allele=79661_5343,dbSNP=rs5745906,"Reduced activity, association with"
Q92832/Q82R "Disease mutation",allele=4745_30760,dbSNP=rs8176785,"Crohn disease, association with"
Q92832/R354W "Disease mutation",allele=4745_30761,dbSNP=rs8176786,"Crohn disease, association with"
Q99519/L91R "Disease mutation",allele=4758_6227,dbSNP=rs104893972,"Sialidosis 2"
Q99519/G136E "Disease mutation",allele=4758_6229,dbSNP=NULL,"Sialidosis 1"
Q99519/L231H "Disease mutation",allele=4758_6235,dbSNP=NULL,"Sialidosis 1"
Q99519/R341G "Disease mutation",allele=4758_6248,dbSNP=NULL,"Sialidosis 2"
Q9Y3R4/R41Q "Disease mutation",allele=4759_30805,dbSNP=rs2233385,"Reduced enzyme activity, association with"
Q13562/G12R "Disease mutation",allele=4760_4997,dbSNP=NULL,"Diabetes, MODY"
Q13562/A45T "Disease mutation",allele=4760_4998,dbSNP=rs1801262,"Diabetes mellitus, type 1, association with"
Q13562/R111L "Disease mutation",allele=4760_5000,dbSNP=rs104893649,"Diabetes mellitus, type 2"
Q13562/H241Q "Disease mutation",allele=4760_5002,dbSNP=NULL,"Diabetes, MODY"
Q9Y4Z2/R93L "Disease mutation",allele=50674_27913,dbSNP=rs121917838,"Diarrhoea 4, malabsorptive, congenital"
Q9Y4Z2/R107S "Disease mutation",allele=50674_27914,dbSNP=rs121917837,"Diarrhoea 4, malabsorptive, congenital"
Q9Y4Z2/G167R "Disease mutation",allele=50674_27915,dbSNP=rs41277236,"Diabetes, type 2, association with ?"
Q9Y4Z2/F199S "Disease mutation",allele=50674_27916,dbSNP=rs4536103,"Diabetes, type 2, association with ?"
P35240/G197C "Disease mutation",allele=4771_6747,dbSNP=NULL,"Neurofibromatosis 2"
P35240/N220Y "Disease mutation",allele=4771_6750,dbSNP=NULL,"Neurofibromatosis 2"
P35240/R418C "Disease mutation",allele=4771_6778,dbSNP=NULL,"Neurofibromatosis 2"
P35240/L535P "Disease mutation",allele=4771_6794,dbSNP=rs74315493,"Neurofibromatosis 2"
P01138/V35A "Disease mutation",allele=4803_28069,dbSNP=rs6330,"Anxiety-related traits, gender-dependent, association with"
P01138/R221W "Disease mutation",allele=4803_28070,dbSNP=rs11466112,"Loss of pain perception"
Q6VVB1/C26S "Disease mutation",allele=378884_24380,dbSNP=rs28940575,"Myoclonic epilepsy of Lafora"
Q6VVB1/G194C "Disease mutation",allele=378884_24395,dbSNP=NULL,"Myoclonic epilepsy of Lafora"
Q6VVB1/L279P "Disease mutation",allele=378884_24406,dbSNP=NULL,"Myoclonic epilepsy of Lafora"
Q6VVB1/P366L "Disease mutation",allele=378884_24411,dbSNP=NULL,"Myoclonic epilepsy of Lafora"
Q9NX24/V126M "Disease mutation",allele=55651_6143,dbSNP=rs121908090,"Dyskeratosis congenita"
Q9NX24/Y139H "Disease mutation",allele=55651_6144,dbSNP=rs121908089,"Dyskeratosis congenita"
Q92982/D110A "Disease mutation",allele=4814_22495,dbSNP=rs2275848,"Reduced mRNA levels, association with"
Q7RTP0/A100T "Disease mutation",allele=123606_15184,dbSNP=NULL,"Spastic paraplegia, autosomal dominant"
Q7RTP0/G106R "Disease mutation",allele=123606_15185,dbSNP=rs104894490,"Spastic paraplegia, autosomal dominant"
Q7RTP0/G106R "Disease mutation",allele=123606_15186,dbSNP=rs104894490,"Spastic paraplegia, autosomal dominant"
Q9NZ94/R451C "Disease mutation",allele=54413_18328,dbSNP=rs121917893,"Autism"
P08949/M120I "Disease mutation",allele=4828_8596,dbSNP=rs17598561,"Obesity, susceptibility to, association with ?"
P15531/S120G "Disease mutation",allele=4830_5359,dbSNP=rs121917887,"Neuroblastoma"
Q9Y239/E266K "Disease mutation",allele=10392_3641,dbSNP=rs2075820,"Helicobacter pylori-induced duodenal ulcer and gastritis, assoc."
Q96S42/R183Q "Disease mutation",allele=4838_36671,dbSNP=rs104894169,"Situs ambiguus"
Q9NPE3/R34W "Disease mutation",allele=55505_12478,dbSNP=rs121908092,"Dyskeratosis congenita, autosomal recessive"
P61916/V30M "Disease mutation",allele=10577_14634,dbSNP=rs151220873,"Niemann-Pick type C2 disease"
P61916/S67P "Disease mutation",allele=10577_14640,dbSNP=rs11694,"Niemann-Pick type C2 disease"
P61916/N111K "Disease mutation",allele=10577_14643,dbSNP=NULL,"Niemann-Pick type C2 disease"
P61916/P120S "Disease mutation",allele=10577_14645,dbSNP=rs104894458,"Niemann-Pick type C2 disease"
O75161/D3Y "Disease mutation",allele=261734_18184,dbSNP=rs145078518,"Nephronophthisis 4"
O75161/R342C "Disease mutation",allele=261734_18187,dbSNP=rs190940697,"Nephronophthisis 4"
O75161/P511L "Disease mutation",allele=261734_18190,dbSNP=NULL,"Nephronophthisis 4"
P01160/V32M "Disease mutation",allele=4878_10347,dbSNP=rs5063,"Lower diastolic blood pressure, association with"
Q6W5P4/N107I "Disease mutation",allele=387129_28874,dbSNP=rs324981,"Panic disorder, in males, association with"
P51843/W105C "Disease mutation",allele=190_12804,dbSNP=rs132630327,"Isolated mineralocorticoid deficiency, assoc. with"
P51843/R267P "Disease mutation",allele=190_12825,dbSNP=rs104894888,"Adrenal hypoplasia"
Q15466/R57W "Disease mutation",allele=8431_15490,dbSNP=NULL,"Obesity"
Q15466/G189E "Disease mutation",allele=8431_15495,dbSNP=rs202154574,"Obesity"
Q15466/A195S "Disease mutation",allele=8431_15496,dbSNP=rs74315350,"Obesity"
Q13133/S99S "Disease mutation",allele=10062_9168,dbSNP=rs2279238,"Obesity,assoc. with ?"
Q96RI1/W80R "Disease mutation",allele=9971_28857,dbSNP=NULL,"Intrahepatic cholestasis of pregnancy ?"
Q96RI1/M173T "Disease mutation",allele=9971_28858,dbSNP=rs61755050,"Intrahepatic cholestasis of pregnancy, association with"
O75469/R98C "Disease mutation",allele=8856_14073,dbSNP=rs72551371,"Reduced transcriptional activity, association with"
O75469/R122Q "Disease mutation",allele=8856_14074,dbSNP=rs12721608,"Attenuated ligand activation"
O75469/Q158K "Disease mutation",allele=8856_14076,dbSNP=NULL,"Promoter activity, association with"
O75469/A370T "Disease mutation",allele=8856_14078,dbSNP=rs35761343,"Altered basal and/or induced transactivation, association"
Q14994/H246R "Disease mutation",allele=9970_23120,dbSNP=rs201406656,"Enzyme activity, assoc. with"
Q14994/L308P "Disease mutation",allele=9970_23121,dbSNP=NULL,"Enzyme activity, assoc. with"
P04150/R23K "Disease mutation",allele=2908_13738,dbSNP=rs6190,"Altered glucocorticoid sensitivity, association"
P04150/D401H "Disease mutation",allele=2908_13740,dbSNP=NULL,"Increased glucocorticoid sensitivity"
P04150/D641V "Disease mutation",allele=2908_13744,dbSNP=rs104893908,"Glucocorticoid receptor deficiency"
Q13285/V355M "Disease mutation",allele=2516_17743,dbSNP=NULL,"Anorchia, bilateral"
Q15738/A105V "Disease mutation",allele=50814_5803,dbSNP=rs104894909,"CHILD syndrome"
Q15738/G205S "Disease mutation",allele=50814_5809,dbSNP=rs28935175,"CHILD syndrome"
Q15738/C340R "Disease mutation",allele=50814_5813,dbSNP=NULL,"CHILD syndrome"
Q9H0P0/C74R "Disease mutation",allele=51251_23456,dbSNP=NULL,"Pyrimidine 5' nucleotidase deficiency"
Q9H0P0/D98V "Disease mutation",allele=51251_23457,dbSNP=rs104894025,"Pyrimidine 5' nucleotidase deficiency"
Q9H0P0/G168R "Disease mutation",allele=51251_23459,dbSNP=NULL,"Pyrimidine 5' nucleotidase deficiency"
Q9H0P0/G241R "Disease mutation",allele=51251_23463,dbSNP=rs104894029,"Pyrimidine 5' nucleotidase deficiency"
Q9H0P0/F36L "Non-disease variant",allele=51251_900163,dbSNP=rs72555707,"NULL"
P53370/R209Q "Disease mutation",allele=11162_11957,dbSNP=rs1048201,"Leukemia, risk, assoc. with ?"
Q01968/R318C "Disease mutation",allele=4952_35143,dbSNP=rs137853263,"Dent disease"
Q01968/A328P "Disease mutation",allele=4952_35144,dbSNP=NULL,"Lowe oculocerebrorenal syndrome ?"
Q01968/D451G "Disease mutation",allele=4952_35156,dbSNP=rs137853850,"Lowe oculocerebrorenal syndrome"
Q01968/A861T "Disease mutation",allele=4952_35201,dbSNP=NULL,"Lowe oculocerebrorenal syndrome ?"
O15527/R46Q "Disease mutation",allele=4968_5685,dbSNP=rs104893751,"Enzyme activity, association with"
O15527/R154H "Disease mutation",allele=4968_5689,dbSNP=rs56053615,"Colorectal cancer, association with ?"
O15527/R229Q "Disease mutation",allele=4968_5690,dbSNP=rs1805373,"Cancer susceptibility, association with ?"
O15527/A288V "Disease mutation",allele=4968_5691,dbSNP=rs3219012,"Multiple colorectal adenoma"
O95897/R144Q "Disease mutation",allele=93145_5217,dbSNP=NULL,"Glaucoma, open angle"
O95897/A226A "Disease mutation",allele=93145_5218,dbSNP=rs79341807,"Glaucoma, open angle, association with"
P78380/K167N "Disease mutation",allele=4973_21339,dbSNP=rs11053646,"Acute myocardial infarction, association with"
P23515/T408A "Disease mutation",allele=4974_2484,dbSNP=rs143996004,"Mental retardation"
O60313/Y80C "Disease mutation",allele=4976_34420,dbSNP=rs151103940,"Optic atrophy 1"
O60313/S545R "Disease mutation",allele=4976_34455,dbSNP=NULL,"Optic atrophy 1"
O60313/V910D "Disease mutation",allele=4976_34472,dbSNP=NULL,"Optic atrophy 1"
Q9H6K4/G93S "Disease mutation",allele=80207_9294,dbSNP=rs80356524,"Optic atrophy and cataract"
Q9H6K4/Q105E "Disease mutation",allele=80207_9295,dbSNP=rs80356525,"Optic atrophy and cataract"
P35372/N40D "Disease mutation",allele=4988_35393,dbSNP=rs1799971,"Altered beta-endorphin binding, association with"
P35372/N152D "Disease mutation",allele=4988_35394,dbSNP=rs17174801,"Reduced expression"
P35372/R265H "Disease mutation",allele=4988_35396,dbSNP=NULL,"Impaired receptor signalling"
P35372/S268P "Disease mutation",allele=4988_35397,dbSNP=rs200811844,"Impaired receptor signalling"
Q9UBM4/E66G "Disease mutation",allele=26254_35855,dbSNP=NULL,"Glaucoma, primary open angle"
Q9UBM4/F162F "Disease mutation",allele=26254_35856,dbSNP=NULL,"Glaucoma, primary open angle, assoc. with"
Q96CV9/E50K "Disease mutation",allele=10133_11117,dbSNP=rs28939688,"Glaucoma 1, open angle"
Q96CV9/T202R "Disease mutation",allele=10133_11120,dbSNP=NULL,"Glaucoma 1, open angle"
Q96CV9/A336G "Disease mutation",allele=10133_11121,dbSNP=NULL,"Glaucoma 1, open angle ?"
Q96CV9/K435R "Disease mutation",allele=10133_11123,dbSNP=NULL,"Glaucoma 1, open angle"
Q8NGZ3/I132V "Disease mutation",allele=441933_34629,dbSNP=rs1151640,"Myocardial infarction, association with"
Q8NGV6/C195R "Disease mutation",allele=79295_34693,dbSNP=rs9853887,"Olfactory receptor deficiency ?"
P00480/R40H "Disease mutation",allele=5009_35411,dbSNP=rs72554308,"Ornithine transcarbamylase deficiency"
P00480/R141Q "Disease mutation",allele=5009_35490,dbSNP=rs68026851,"Ornithine transcarbamylase deficiency"
P00480/G197E "Disease mutation",allele=5009_35556,dbSNP=rs72556302,"Ornithine transcarbamylase deficiency"
P00480/F316S "Disease mutation",allele=5009_35642,dbSNP=rs72558471,"Ornithine transcarbamylase deficiency"
P32243/R89G "Disease mutation",allele=5015_17753,dbSNP=rs104894464,"Ocular malformations"
P32243/P133T "Disease mutation",allele=5015_17756,dbSNP=NULL,"Ocular malformations"
P32243/P134A "Disease mutation",allele=5015_17757,dbSNP=NULL,"Ocular malformations"
P32243/N225S "Disease mutation",allele=5015_17759,dbSNP=NULL,"Pituitary hormone deficiency, combined"
P55809/V133E "Disease mutation",allele=5019_982,dbSNP=rs267606930,"3-oxoacid CoA transferase deficiency"
P55809/G219E "Disease mutation",allele=5019_984,dbSNP=rs121909302,"3-oxoacid CoA transferase deficiency"
P55809/C456F "Disease mutation",allele=5019_989,dbSNP=rs121909300,"3-oxoacid CoA transferase deficiency"
Q9H244/K174E "Disease mutation",allele=64805_20999,dbSNP=NULL,"Platelet ADP receptor defect"
Q9H244/R256Q "Disease mutation",allele=64805_21000,dbSNP=rs121917885,"Platelet ADP receptor defect"
Q9H244/P258T "Disease mutation",allele=64805_21001,dbSNP=rs202099742,"Platelet ADP receptor defect"
Q9H244/R265W "Disease mutation",allele=64805_21002,dbSNP=rs121917886,"Platelet ADP receptor defect"
P43034/F31S "Disease mutation",allele=5048_20560,dbSNP=rs121434486,"Lissencephaly, isolated"
P43034/H149R "Disease mutation",allele=5048_20563,dbSNP=rs121434482,"Miller-Dieker lissencephaly syndrome"
P43034/H277P "Disease mutation",allele=5048_20570,dbSNP=rs121434490,"Lissencephaly, isolated"
P43034/S399R "Disease mutation",allele=5048_20576,dbSNP=NULL,"Lissencephaly, isolated ?"
P00439/D59Y "Disease mutation",allele=5053_21550,dbSNP=rs199475635,"Phenylketonuria"
P00439/D143G "Disease mutation",allele=5053_21594,dbSNP=rs199475572,"Phenylketonuria"
P00439/L248P "Disease mutation",allele=5053_21717,dbSNP=rs62507340,"Phenylketonuria"
P00439/R408W "Disease mutation",allele=5053_21904,dbSNP=rs5030858,"Phenylketonuria"
Q9P286/R335P "Disease mutation",allele=57144_2560,dbSNP=rs11700112,"Colorectal cancer, increased risk, assoc. with"
Q9BZ23/D447N "Disease mutation",allele=80025_16892,dbSNP=NULL,"Pantothenate kinase-associated neurodegeneration"
Q9BZ23/S471N "Disease mutation",allele=80025_16896,dbSNP=rs137852963,"Pantothenate kinase-associated neurodegeneration"
Q9BZ23/G521R "Disease mutation",allele=80025_16909,dbSNP=rs137852959,"Pantothenate kinase-associated neurodegeneration"
Q9BZ23/F550L "Disease mutation",allele=80025_16913,dbSNP=rs138402319,"Pantothenate kinase-associated neurodegeneration"
O95340/E10K "Disease mutation",allele=9060_10845,dbSNP=rs17173698,"Reduced PAPSS activity, association with"
O95340/T48R "Disease mutation",allele=9060_10846,dbSNP=rs121908951,"Premature pubarche"
O60260/G12R "Disease mutation",allele=5071_2623,dbSNP=NULL,"Parkinson disease ?"
O60260/P153R "Disease mutation",allele=5071_2644,dbSNP=rs55654276,"Parkinson disease, autosomal recessive"
O43316/R121W "Disease mutation",allele=5078_25878,dbSNP=rs114202595,"Diabetes, type 2"
O43316/R133W "Disease mutation",allele=5078_25879,dbSNP=rs2233578,"Diabetes, type 2"
O43316/R164W "Disease mutation",allele=5078_25880,dbSNP=rs121917718,"Diabetes, type 2"
P11498/V145A "Disease mutation",allele=5091_11442,dbSNP=rs28940591,"Pyruvate carboxylase deficiency"
P11498/R583L "Disease mutation",allele=5091_11451,dbSNP=rs119103242,"Pyruvate carboxylase deficiency"
P11498/A610T "Disease mutation",allele=5091_11452,dbSNP=rs28940589,"Pyruvate carboxylase deficiency"
P61457/E58K "Disease mutation",allele=5092_9276,dbSNP=NULL,"Hyperphenylalaninaemia"
P61457/T79I "Disease mutation",allele=5092_9277,dbSNP=rs121913014,"Hyperphenylalaninaemia"
P61457/C82R "Disease mutation",allele=5092_9278,dbSNP=rs104894177,"Hyperphenylalaninaemia"
P61457/E97K "Disease mutation",allele=5092_9281,dbSNP=NULL,"Hyperphenylalaninaemia"
P05165/A75P "Disease mutation",allele=5095_2077,dbSNP=NULL,"Propionic acidaemia"
P05165/V360G "Disease mutation",allele=5095_2087,dbSNP=NULL,"Propionic acidaemia"
P05165/L417W "Disease mutation",allele=5095_2094,dbSNP=NULL,"Propionic acidaemia"
P05165/M666K "Disease mutation",allele=5095_2102,dbSNP=NULL,"Propionic acidaemia"
P05166/G112D "Disease mutation",allele=5096_1987,dbSNP=rs202247818,"Propionic acidaemia"
P05166/G131R "Disease mutation",allele=5096_1989,dbSNP=NULL,"Propionic acidaemia"
P05166/R165W "Disease mutation",allele=5096_1992,dbSNP=NULL,"Propionic acidaemia"
P05166/Y439C "Disease mutation",allele=5096_2007,dbSNP=NULL,"Propionic acidaemia"
P29120/N221D "Disease mutation",allele=5122_28464,dbSNP=rs6232,"Obesity, association with"
P29120/S307L "Disease mutation",allele=5122_28466,dbSNP=rs137852824,"Hyperphagia and obesity, early onset"
P29120/G593R "Disease mutation",allele=5122_28467,dbSNP=NULL,"Obesity and impaired prohormone processing"
P35913/Y219H "Disease mutation",allele=5158_5817,dbSNP=rs62295357,"Retinitis pigmentosa"
P35913/H557Y "Disease mutation",allele=5158_5827,dbSNP=rs121918581,"Retinitis pigmentosa"
P08559/R88C "Disease mutation",allele=5160_8815,dbSNP=NULL,"Pyruvate dehydrogenase deficiency"
P08559/R127W "Disease mutation",allele=5160_8820,dbSNP=rs199959402,"Pyruvate dehydrogenase deficiency"
P08559/L216F "Disease mutation",allele=5160_8840,dbSNP=rs28935188,"Pyruvate dehydrogenase deficiency"
P08559/R378H "Disease mutation",allele=5160_8867,dbSNP=rs137853250,"Pyruvate dehydrogenase deficiency"
P11177/R36C "Disease mutation",allele=5162_5525,dbSNP=NULL,"Pyruvate dehydrogenase deficiency"
P11177/Y132C "Disease mutation",allele=5162_5526,dbSNP=rs28935769,"Pyruvate dehydrogenase deficiency"
P11177/I142M "Disease mutation",allele=5162_5527,dbSNP=rs151247980,"Pyruvate dehydrogenase deficiency"
P11177/C306R "Disease mutation",allele=5162_5529,dbSNP=rs145876456,"Pyruvate dehydrogenase deficiency"
Q9UBM1/V175M "Disease mutation",allele=10400_20081,dbSNP=rs7946,"Non-alcoholic fatty liver disease, association with"
P01210/G247D "Disease mutation",allele=5179_17746,dbSNP=rs1800567,"Schizophrenia, association with"
P12955/R184Q "Disease mutation",allele=5184_717,dbSNP=rs121917722,"Prolidase deficiency"
P12955/S202F "Disease mutation",allele=5184_718,dbSNP=rs267606943,"Prolidase deficiency"
P12955/D276N "Disease mutation",allele=5184_720,dbSNP=rs121917721,"Prolidase deficiency"
P12955/G448R "Disease mutation",allele=5184_723,dbSNP=rs121917724,"Prolidase deficiency"
Q92968/W313G "Disease mutation",allele=5194_22788,dbSNP=rs61752113,"Zellweger syndrome H"
Q92968/I326T "Disease mutation",allele=5194_22789,dbSNP=rs61752115,"Neonatal adrenoleukodystrophy"
P28328/E55K "Disease mutation",allele=5828_10164,dbSNP=rs61752119,"Refsum disease, infantile"
P28328/C247R "Disease mutation",allele=5828_10168,dbSNP=rs61752128,"Peroxisome biogenesis disorder"
O00628/S25F "Disease mutation",allele=5191_23779,dbSNP=rs61753236,"Rhizomelic chondrodysplasia punctata"
O00628/H110R "Disease mutation",allele=5191_23786,dbSNP=rs62653603,"Rhizomelic chondrodysplasia punctata"
O00628/G217R "Disease mutation",allele=5191_23794,dbSNP=rs121909152,"Rhizomelic chondrodysplasia punctata"
O00628/H285R "Disease mutation",allele=5191_23799,dbSNP=rs62653611,"Rhizomelic chondrodysplasia punctata"
P08237/D543A "Disease mutation",allele=5213_11473,dbSNP=rs121918194,"Glycogen storage disease 7"
P08237/W686C "Disease mutation",allele=5213_11474,dbSNP=NULL,"Glycogen storage disease 7"
P15259/E89A "Disease mutation",allele=5224_6454,dbSNP=rs104894030,"Phosphoglycerate mutase deficiency"
P15259/R90W "Disease mutation",allele=5224_6455,dbSNP=rs104894034,"Phosphoglycerate mutase deficiency"
P15259/G97D "Disease mutation",allele=5224_6456,dbSNP=rs77938727,"Phosphoglycerate mutase deficiency, partial"
Q96JS3/G244E "Disease mutation",allele=84547_32878,dbSNP=rs3800324,"Alzheimer disease, late-onset, association with"
Q96JS3/I678V "Non-disease variant",allele=84547_900214,dbSNP=rs1997660,"NULL"
Q96JS3/H806D "Non-disease variant",allele=84547_900215,dbSNP=rs6456811,"NULL"
Q96JS3/Q248E "Non-disease variant",allele=84547_900216,dbSNP=rs3800325,"NULL"
Q96JS3/P256L "Non-disease variant",allele=84547_900222,dbSNP=rs3800326,"NULL"
P00558/L89P "Disease mutation",allele=5230_27223,dbSNP=NULL,"Phosphoglycerate kinase deficiency"
P00558/R206P "Disease mutation",allele=5230_27226,dbSNP=rs137852529,"Phosphoglycerate kinase deficiency"
P00558/D268N "Disease mutation",allele=5230_27228,dbSNP=rs137852528,"Phosphoglycerate kinase deficiency"
P00558/C316R "Disease mutation",allele=5230_27231,dbSNP=rs137852533,"Phosphoglycerate kinase deficiency"
P78562/C77S "Disease mutation",allele=5251_36381,dbSNP=NULL,"Rickets, hypophosphataemic"
P78562/L206W "Disease mutation",allele=5251_36393,dbSNP=NULL,"Rickets, hypophosphataemic"
P78562/P558R "Disease mutation",allele=5251_36432,dbSNP=NULL,"Rickets, hypophosphataemic"
P78562/G579V "Disease mutation",allele=5251_36440,dbSNP=NULL,"Rickets, hypophosphataemic"
Q9UPP1/F279S "Disease mutation",allele=23133_20119,dbSNP=rs121918524,"X-linked mental retardation & cleft lip/palate"
P15735/V106E "Disease mutation",allele=5261_13665,dbSNP=rs137853589,"Phosphorylase kinase deficiency"
P15735/H145Y "Disease mutation",allele=5261_13667,dbSNP=rs137853591,"Phosphorylase kinase deficiency"
P15735/D215N "Disease mutation",allele=5261_13670,dbSNP=NULL,"Phosphorylase kinase deficiency"
P15735/L226R "Disease mutation",allele=5261_13671,dbSNP=rs137853592,"Phosphorylase kinase deficiency"
O14832/P29S "Disease mutation",allele=5264_3351,dbSNP=rs28938169,"Refsum disease"
O14832/N83Y "Disease mutation",allele=5264_3352,dbSNP=NULL,"Refsum disease"
O14832/I199F "Disease mutation",allele=5264_3359,dbSNP=NULL,"Refsum disease"
O14832/N269H "Disease mutation",allele=5264_3364,dbSNP=rs104894179,"Refsum disease"
P01833/A580V "Disease mutation",allele=5284_31134,dbSNP=rs291102,"Immunoglobulin A nephropathy, association with"
O00329/E1021K "Disease mutation",allele=5293_34604,dbSNP=NULL,"Immunodeficiency, primary B-cell ?"
P27986/M326I "Disease mutation",allele=5295_21011,dbSNP=rs3730089,"Colon cancer, incr. risk, association with"
P27986/R409Q "Disease mutation",allele=5295_21012,dbSNP=NULL,"Insulin resistance, association with"
P48426/N251S "Disease mutation",allele=5305_2466,dbSNP=rs10828317,"Schizophrenia, association with  "
P78337/E130K "Disease mutation",allele=5307_11066,dbSNP=rs121909109,"Clubfoot"
P78337/G299A "Non-disease variant",allele=5307_900172,dbSNP=rs479632,"NULL"
Q99697/L54Q "Disease mutation",allele=5308_12480,dbSNP=rs104893857,"Rieger syndrome"
Q99697/P64R "Disease mutation",allele=5308_12484,dbSNP=NULL,"Axenfeld-Rieger syndrome"
Q99697/V83L "Disease mutation",allele=5308_12488,dbSNP=rs121909249,"Axenfeld-Rieger syndrome"
Q99697/G137V "Disease mutation",allele=5308_12499,dbSNP=NULL,"Axenfeld-Rieger syndrome"
P30613/M107T "Disease mutation",allele=5313_15279,dbSNP=NULL,"Haemolytic anaemia"
P30613/R163C "Disease mutation",allele=5313_15293,dbSNP=rs118204083,"Pyruvate kinase deficiency"
P30613/E407G "Disease mutation",allele=5313_15374,dbSNP=NULL,"Pyruvate kinase deficiency"
P30613/R486L "Disease mutation",allele=5313_15400,dbSNP=NULL,"Pyruvate kinase deficiency"
P14618/H391Y "Disease mutation",allele=5315_9784,dbSNP=NULL,"Bloom syndrome"
P14618/K422R "Disease mutation",allele=5315_9785,dbSNP=NULL,"Bloom syndrome"
Q13093/R92H "Disease mutation",allele=7941_18923,dbSNP=rs1805017,"Cardiovascular disease, assoc. ?"
Q13093/V279F "Disease mutation",allele=7941_18925,dbSNP=rs16874954,"PAF acetylhydrolase deficiency, association with"
Q13093/A379V "Disease mutation",allele=7941_18928,dbSNP=rs1051931,"Asthma and atopy, association with"
P00749/P141L "Disease mutation",allele=5328_5345,dbSNP=rs2227564,"Alzheimer disease, association with"
P00747/K38E "Disease mutation",allele=5340_34755,dbSNP=rs73015965,"Plasminogen deficiency"
P00747/V374F "Disease mutation",allele=5340_34771,dbSNP=rs121918028,"Plasminogen deficiency"
P00747/C784G "Disease mutation",allele=5340_34789,dbSNP=NULL,"Plasminogen deficiency"
P26678/R9C "Disease mutation",allele=5350_10285,dbSNP=rs111033559,"Cardiomyopathy, dilated"
Q02809/W446G "Disease mutation",allele=5351_1966,dbSNP=NULL,"Ehlers-Danlos syndrome VI"
Q02809/W612C "Disease mutation",allele=5351_1968,dbSNP=rs121913553,"Ehlers-Danlos syndrome VI"
Q02809/A667T "Disease mutation",allele=5351_1969,dbSNP=rs199730384,"Ehlers-Danlos syndrome VI"
Q02809/G678R "Disease mutation",allele=5351_1971,dbSNP=rs121913551,"Ehlers-Danlos syndrome VI"
O60568/N223S "Disease mutation",allele=8985_12131,dbSNP=rs121434414,"Connective tissue disorder"
P60201/P15L "Disease mutation",allele=5354_7788,dbSNP=rs11543022,"Pelizaeus-Merzbacher disease"
P60201/L87P "Disease mutation",allele=5354_7807,dbSNP=NULL,"Pelizaeus-Merzbacher disease"
P60201/W163L "Disease mutation",allele=5354_7812,dbSNP=NULL,"Pelizaeus-Merzbacher disease, assoc. with"
P60201/A248E "Disease mutation",allele=5354_7860,dbSNP=NULL,"Pelizaeus-Merzbacher disease"
P55058/R235W "Disease mutation",allele=5360_9310,dbSNP=NULL,"Decreased activity, association with"
P55058/R476Q "Disease mutation",allele=5360_9311,dbSNP=NULL,"Decreased activity, association with"
Q01453/L16P "Disease mutation",allele=5376_13235,dbSNP=rs104894617,"Charcot-Marie-Tooth disease 1a"
Q01453/L80P "Disease mutation",allele=5376_13254,dbSNP=NULL,"Dejerine-Sottas syndrome"
Q01453/C109R "Disease mutation",allele=5376_13263,dbSNP=NULL,"Dejerine-Sottas syndrome"
Q01453/R157G "Disease mutation",allele=5376_13272,dbSNP=NULL,"Charcot-Marie-Tooth disease 1"
P54277/M394T "Disease mutation",allele=5378_31163,dbSNP=rs1145231,"Colorectal cancer, non-polyposis"
P54277/G501R "Disease mutation",allele=5378_31164,dbSNP=rs1145232,"Colorectal cancer, non-polyposis"
Q8N490/A7V "Disease mutation",allele=25953_2858,dbSNP=rs121434512,"Paroxysmal nonkinesiogenic dyskinesia"
Q8N490/A9V "Disease mutation",allele=25953_2859,dbSNP=rs121434511,"Paroxysmal nonkinesiogenic dyskinesia"
P11086/N9S "Disease mutation",allele=5409_17085,dbSNP=rs11569781,"Increased activity, association with"
P00491/G51S "Disease mutation",allele=4860_25883,dbSNP=rs1049564,"Faster cognitive decline in alzheimer disease, association with"
P00491/E89K "Disease mutation",allele=4860_25886,dbSNP=rs104894453,"Nucleoside phosphorylase deficiency"
P00491/G156A "Disease mutation",allele=4860_25889,dbSNP=NULL,"Nucleoside phosphorylase deficiency"
P00491/H257D "Disease mutation",allele=4860_25897,dbSNP=NULL,"Nucleoside phosphorylase deficiency"
Q9NST1/S453I "Disease mutation",allele=80339_20465,dbSNP=rs6006460,"Nonalcoholic fatty liver disease, association with"
Q9NVS9/R95C "Disease mutation",allele=55163_8609,dbSNP=NULL,"Epileptic encephalopathy, neonatal"
Q9NVS9/R95H "Disease mutation",allele=55163_8610,dbSNP=NULL,"PNPO deficiency"
Q9NVS9/R229W "Disease mutation",allele=55163_8612,dbSNP=rs104894629,"Epileptic encephalopathy, neonatal"
Q9NVS9/R116Q "Non-disease variant",allele=55163_900160,dbSNP=rs17679445,"NULL"
Q8WVV4/R329Q "Disease mutation",allele=79983_13817,dbSNP=rs75398746,"Premature ovarian failure, association with"
P06746/R137Q "Disease mutation",allele=5423_31390,dbSNP=rs12678588,"Reduced activity, association with"
P06746/P242R "Disease mutation",allele=5423_31391,dbSNP=rs3136797,"Leukemia, risk, assoc. with ?"
Q9UHN1/G451E "Disease mutation",allele=11232_11955,dbSNP=rs104894632,"Progressive external ophthalmoplegia"
P27169/L90P "Disease mutation",allele=5444_35713,dbSNP=rs72552788,"Paraoxonase activity variant"
P27169/I102V "Disease mutation",allele=5444_35714,dbSNP=rs72552787,"Prostate cancer, increased risk, association with"
P27169/R160G "Disease mutation",allele=5444_35715,dbSNP=rs13306698,"Coronary heart disease, reduced risk, association with"
P27169/Q192R "Disease mutation",allele=5444_35716,dbSNP=rs662,"Paraoxonase activity variant"
Q9H237/G60R "Disease mutation",allele=64840_14102,dbSNP=rs267606973,"Focal dermal hypoplasia"
Q9H237/S136F "Disease mutation",allele=64840_14107,dbSNP=NULL,"Focal dermal hypoplasia"
Q9H237/H341L "Disease mutation",allele=64840_14114,dbSNP=NULL,"Focal dermal hypoplasia"
Q9H237/W439R "Disease mutation",allele=64840_14121,dbSNP=NULL,"Focal dermal hypoplasia"
Q15319/L223P "Disease mutation",allele=5459_27019,dbSNP=rs121909057,"Deafness, non-syndromic, autosomal dominant"
Q15319/L289F "Disease mutation",allele=5459_27020,dbSNP=rs121909056,"Deafness, non-syndromic, autosomal dominant"
Q07869/R127Q "Disease mutation",allele=5465_6146,dbSNP=rs1800204,"Diabetes ?"
Q07869/L162V "Disease mutation",allele=5465_6147,dbSNP=rs1800206,"Elevated plasma lipid conc., assoc. in diabetes"
Q07869/V227A "Disease mutation",allele=5465_6148,dbSNP=rs1800234,"Lower total cholesterol, association with"
P37231/P113Q "Disease mutation",allele=5468_4352,dbSNP=rs1800571,"Obesity"
P37231/C190W "Disease mutation",allele=5468_4356,dbSNP=NULL,"Insulin resistance"
P37231/V318M "Disease mutation",allele=5468_4358,dbSNP=rs72551362,"Insulin resistance, diabetes and hypertension"
P37231/D424N "Disease mutation",allele=5468_4362,dbSNP=NULL,"Partial lipodystrophy"
P50897/H39Q "Disease mutation",allele=5538_10373,dbSNP=NULL,"Neuronal ceroid lipofuscinosis, infantile"
P50897/R122W "Disease mutation",allele=5538_10385,dbSNP=rs137852695,"Neuronal ceroid lipofuscinosis, infantile"
P50897/E184K "Disease mutation",allele=5538_10394,dbSNP=NULL,"Neuronal ceroid lipofuscinosis, infantile"
P50897/Y247H "Disease mutation",allele=5538_10398,dbSNP=NULL,"Neuronal ceroid lipofuscinosis, juvenile"
O60828/Y65C "Disease mutation",allele=10084_13033,dbSNP=rs121917899,"Golabi-Ito-Hall syndrome"
Q9UGJ0/R302Q "Disease mutation",allele=51422_2231,dbSNP=rs121908987,"Wolff-Parkinson-White syndrome"
Q9UGJ0/T400N "Disease mutation",allele=51422_2234,dbSNP=rs28938173,"Cardiomyopathy, hypertrophic"
Q9UGJ0/Y487H "Disease mutation",allele=51422_2235,dbSNP=rs267606976,"Hypertrophy, moderate"
Q9UGJ0/R531Q "Disease mutation",allele=51422_2240,dbSNP=rs121908991,"Cardiac glycogenosis"
Q9UGI9/R225W "Disease mutation",allele=53632_24344,dbSNP=rs138130157,"Altered glycogen and triglyceride levels in muscle"
P10644/R74C "Disease mutation",allele=5573_3651,dbSNP=rs137853303,"Carney complex"
P10644/S147G "Disease mutation",allele=5573_3656,dbSNP=NULL,"Carney complex"
P10644/A213D "Disease mutation",allele=5573_3662,dbSNP=rs281864786,"Carney complex"
P10644/G289W "Disease mutation",allele=5573_3668,dbSNP=NULL,"Carney complex"
P14314/R139H "Disease mutation",allele=5589_5347,dbSNP=rs139991238,"Polycystic liver disease"
P14314/K155R "Disease mutation",allele=5589_5348,dbSNP=NULL,"Polycystic liver disease"
P14314/R281W "Disease mutation",allele=5589_5349,dbSNP=NULL,"Polycystic liver disease"
O75569/P222L "Disease mutation",allele=8575_10869,dbSNP=rs121434410,"Dystonia-parkinsonism"
P04553/R34S "Disease mutation",allele=5619_10178,dbSNP=rs35576928,"Male infertility, assoc. with ?"
P04553/C40Y "Disease mutation",allele=5619_10179,dbSNP=NULL,"Oligozoospermia ?"
P04156/P102L "Disease mutation",allele=5621_1685,dbSNP=rs74315401,"Gerstmann-Straeussler syndrome"
P04156/G131V "Disease mutation",allele=5621_1692,dbSNP=rs74315410,"Gerstmann-Straeussler syndrome"
P04156/F198V "Disease mutation",allele=5621_1710,dbSNP=rs55871421,"Dementia, neurodegenerative"
P04070/G114R "Disease mutation",allele=5624_15810,dbSNP=NULL,"Protein C deficiency"
P04070/H176N "Disease mutation",allele=5624_15834,dbSNP=NULL,"Protein C deficiency"
P04070/Q332L "Disease mutation",allele=5624_15897,dbSNP=NULL,"Protein C deficiency"
P04070/W444C "Disease mutation",allele=5624_15959,dbSNP=rs121918142,"Protein C deficiency"
O43272/A167V "Disease mutation",allele=5625_31970,dbSNP=NULL,"Hyperprolinaemia, association with"
O43272/R185W "Disease mutation",allele=5625_31971,dbSNP=rs4819756,"Hyperprolinaemia, association with"
O43272/L289M "Disease mutation",allele=5625_31972,dbSNP=rs137852934,"Increased proline level in schizophrenia"
O43272/D426N "Disease mutation",allele=5625_31974,dbSNP=NULL,"Hyperprolinaemia"
Q9HC23/A24P "Disease mutation",allele=60675_31259,dbSNP=NULL,"Kallmann syndrome"
Q9HC23/G32R "Disease mutation",allele=60675_31260,dbSNP=rs104893767,"Kallmann syndrome"
Q9HC23/C34Y "Disease mutation",allele=60675_31261,dbSNP=NULL,"Kallmann syndrome"
P22891/E70K "Disease mutation",allele=8858_35697,dbSNP=rs3024778,"Protein Z deficiency"
P22891/E70Q "Disease mutation",allele=8858_35698,dbSNP=NULL,"Thrombosis"
P22891/L264P "Disease mutation",allele=8858_35699,dbSNP=NULL,"Protein Z deficiency"
P22891/R295H "Disease mutation",allele=8858_35700,dbSNP=rs3024772,"Protein Z deficiency"
O43395/A489D "Disease mutation",allele=9129_5696,dbSNP=rs121434243,"Retinitis pigmentosa"
O43395/P493S "Disease mutation",allele=9129_5697,dbSNP=rs121434242,"Retinitis pigmentosa"
O43395/T494M "Disease mutation",allele=9129_5698,dbSNP=rs121434241,"Retinitis pigmentosa"
Q8WWY3/L107V "Disease mutation",allele=26121_27858,dbSNP=NULL,"Retinitis pigmentosa"
Q8WWY3/A216P "Disease mutation",allele=26121_27862,dbSNP=rs119475042,"Retinitis pigmentosa"
P23942/R13W "Disease mutation",allele=5961_35718,dbSNP=rs61754402,"Retinitis pigmentosa"
P23942/Y141C "Disease mutation",allele=5961_35732,dbSNP=rs61755781,"Retinitis pigmentosa"
P23942/L185P "Disease mutation",allele=5961_35749,dbSNP=rs121918563,"Retinitis pigmentosa"
P23942/G305D "Disease mutation",allele=5961_35787,dbSNP=rs61748432,"Macular dystrophy"
P60891/E43D "Disease mutation",allele=5631_6813,dbSNP=rs80338731,"Rosenberg-Chutorian syndrome"
P60891/D52H "Disease mutation",allele=5631_6814,dbSNP=rs137852542,"Phosphoribosylpyrophosphate synthetase superactivity"
P60891/N114S "Disease mutation",allele=5631_6815,dbSNP=rs137852540,"Phosphoribosylpyrophosphate synthetase superactivity"
P60891/D183H "Disease mutation",allele=5631_6820,dbSNP=rs137852541,"Phosphoribosylpyrophosphate synthetase superactivity"
P07478/D153H "Disease mutation",allele=5645_31285,dbSNP=rs1804564,"Abolition of tyrosine sulphation, association with"
P07478/G191R "Disease mutation",allele=5645_31286,dbSNP=NULL,"Chronic pancreatitis, protection against, assoc. with"
Q9Y617/D100A "Disease mutation",allele=29968_2158,dbSNP=rs118203967,"Phosphoserine aminotransferase deficiency"
P49810/R71W "Disease mutation",allele=5664_9256,dbSNP=rs140501902,"Altered function, association with"
P49810/N141I "Disease mutation",allele=5664_9262,dbSNP=rs63750215,"Alzheimer disease"
P49810/M239V "Disease mutation",allele=5664_9266,dbSNP=rs28936379,"Alzheimer disease"
P49810/T430M "Disease mutation",allele=5664_9270,dbSNP=rs63750666,"Alzheimer disease"
Q9NZ42/D90N "Disease mutation",allele=55851_11813,dbSNP=NULL,"Alzheimer disease"
P28065/V32I "Disease mutation",allele=5698_20543,dbSNP=rs241419,"Colorectal cancer, increased risk, assoc. with"
P78330/D32N "Disease mutation",allele=5723_20327,dbSNP=rs28933976,"3-phosphoserine phosphatase deficiency"
P78330/M52T "Disease mutation",allele=5723_20328,dbSNP=rs104894036,"3-phosphoserine phosphatase deficiency"
P25105/A224D "Disease mutation",allele=5724_20333,dbSNP=rs5938,"Impaired G-protein activation, association with"
Q13635/L106R "Disease mutation",allele=5727_23211,dbSNP=NULL,"Nevoid basal cell carcinoma syndrome"
Q13635/G110R "Disease mutation",allele=5727_23212,dbSNP=NULL,"Nevoid basal cell carcinoma syndrome"
Q13635/T230P "Disease mutation",allele=5727_23219,dbSNP=NULL,"Nevoid basal cell carcinoma syndrome"
P35354/V511A "Disease mutation",allele=5743_1791,dbSNP=rs5273,"Colorectal neoplasia, reduced risk, association ?"
P01270/C18R "Disease mutation",allele=5741_30768,dbSNP=rs104894271,"Hypoparathyroidism"
P01270/S23P "Disease mutation",allele=5741_30769,dbSNP=rs104894272,"Hypoparathyroidism"
Q03431/P132L "Disease mutation",allele=5745_26868,dbSNP=rs121434599,"Metaphyseal chondrodysplasia"
Q03431/H223R "Disease mutation",allele=5745_26871,dbSNP=rs121434597,"Metaphyseal chondrodysplasia"
Q03393/R16C "Disease mutation",allele=5805_2488,dbSNP=rs104894274,"Hyperphenylalaninaemia"
Q03393/F40L "Disease mutation",allele=5805_2495,dbSNP=NULL,"Hyperphenylalaninaemia"
Q03393/K91R "Disease mutation",allele=5805_2505,dbSNP=NULL,"Hyperphenylalaninaemia"
Q03393/L127F "Disease mutation",allele=5805_2520,dbSNP=NULL,"Tetrahydrobiopterin deficiency"
Q15223/S112T "Disease mutation",allele=5818_27153,dbSNP=NULL,"Cleft lip / palate"
Q15223/T131A "Disease mutation",allele=5818_27154,dbSNP=rs199962982,"Cleft lip / palate ?"
Q15223/V360G "Disease mutation",allele=5818_27156,dbSNP=NULL,"Cleft lip / palate, assoc. with"
Q53H96/V105M "Disease mutation",allele=65263_9774,dbSNP=rs2242089,"Lung cancer, susceptibility to, association with"
P06737/N339S "Disease mutation",allele=5836_30086,dbSNP=rs113993976,"Glycogen storage disease 6"
P06737/N377K "Disease mutation",allele=5836_30087,dbSNP=rs113993977,"Glycogen storage disease 6"
P10082/Q62P "Disease mutation",allele=5697_34793,dbSNP=rs267606994,"Obesity, assoc. with"
P10082/R72T "Disease mutation",allele=5697_34794,dbSNP=rs1058046,"Diabetes, type 2, reduced risk, association with"
P09417/W108G "Disease mutation",allele=5860_14690,dbSNP=rs104893864,"Dihydropteridine reductase deficiency"
Q9ULC3/C85R "Disease mutation",allele=51715_3779,dbSNP=NULL,"Acrocephalopolysyndactyly, type II"
P15153/D57N "Disease mutation",allele=5880_10882,dbSNP=rs74315507,"Neutrophil immunodeficiency syndrome"
O75771/E233G "Disease mutation",allele=5892_12776,dbSNP=rs28363284,"Breast cancer, increased risk, association with"
O75771/R165Q "Non-disease variant",allele=5892_900197,dbSNP=rs4796033,"NULL"
P55895/T77N "Disease mutation",allele=5897_21069,dbSNP=rs121918574,"Immunodeficiency, severe combined"
P55895/R229Q "Disease mutation",allele=5897_21075,dbSNP=rs121917894,"Immunodeficiency, severe combined, B cell -ve"
P55895/M285R "Disease mutation",allele=5897_21077,dbSNP=rs121917896,"Omenn syndrome"
P55895/N474S "Disease mutation",allele=5897_21083,dbSNP=NULL,"Immunodeficiency, severe combined"
Q13702/L14P "Disease mutation",allele=5913_7399,dbSNP=rs104894300,"Congenital myasthenic syndrome"
Q13702/F139S "Disease mutation",allele=5913_7407,dbSNP=rs121909256,"Fetal akinesia deformation sequence disorder"
Q13702/A189V "Disease mutation",allele=5913_7413,dbSNP=rs121909257,"Fetal akinesia deformation sequence disorder"
Q13702/L361R "Disease mutation",allele=5913_7417,dbSNP=NULL,"Congenital myasthenic syndrome"
P20936/Y426C "Disease mutation",allele=5921_2804,dbSNP=NULL,"Capillary malformation-arteriovenous malformation"
P20936/E763V "Disease mutation",allele=5921_2813,dbSNP=NULL,"Capillary malformation-arteriovenous malformation"
Q9NW13/L351P "Disease mutation",allele=55131_11409,dbSNP=rs118204055,"Alopecia, neuro. defects and endocrinopathy synd."
P02753/I59N "Disease mutation",allele=5950_21404,dbSNP=rs121918584,"Retinol deficiency"
P02753/G93D "Disease mutation",allele=5950_21405,dbSNP=rs121918585,"Retinol deficiency"
Q96NR8/T49M "Disease mutation",allele=145226_15158,dbSNP=rs28940314,"Retinal dystrophy"
Q96NR8/L99I "Disease mutation",allele=145226_15163,dbSNP=rs28940315,"Leber congenital amaurosis"
Q96NR8/P230A "Disease mutation",allele=145226_15177,dbSNP=rs104894476,"Leber congenital amaurosis"
Q96NR8/C285Y "Disease mutation",allele=145226_15181,dbSNP=NULL,"Retinal dystrophy"
Q92781/S73F "Disease mutation",allele=5959_14914,dbSNP=rs62638185,"Fundus albipunctatus"
Q92781/R157W "Disease mutation",allele=5959_14918,dbSNP=rs104894374,"Fundus albipunctatus"
Q92781/V164F "Disease mutation",allele=5959_14919,dbSNP=NULL,"Fundus albipunctatus"
Q92781/C267W "Disease mutation",allele=5959_14924,dbSNP=NULL,"Fundus albipunctatus"
P35241/D578N "Disease mutation",allele=5962_18338,dbSNP=rs121918379,"Hearing loss, non-syndromic"
Q9H902/P19R "Disease mutation",allele=65055_23388,dbSNP=NULL,"Spastic paraplegia 31"
Q9H902/A20E "Disease mutation",allele=65055_23389,dbSNP=rs121918262,"Spastic paraplegia 31"
Q9H902/T55K "Disease mutation",allele=65055_23390,dbSNP=NULL,"Spastic paraplegia 31"
Q9H902/L107P "Disease mutation",allele=65055_23391,dbSNP=NULL,"Spastic paraplegia 31"
P00797/D104N "Disease mutation",allele=5972_19456,dbSNP=NULL,"Renal tubular dysgenesis"
P00797/S135Y "Disease mutation",allele=5972_19457,dbSNP=NULL,"Renal tubular dysgenesis"
P00797/R230K "Disease mutation",allele=5972_19458,dbSNP=rs121917742,"Renal tubular dysgenesis"
P00797/V351I "Disease mutation",allele=5972_19459,dbSNP=NULL,"Reduced plasma renin activity, association with"
P07949/R114H "Disease mutation",allele=5979_8251,dbSNP=rs76397662,"Autonomic control, congenital failure of"
P48382/R149Q "Disease mutation",allele=5993_670,dbSNP=rs137853099,"Bare lymphocyte syndrome"
O14593/D121V "Disease mutation",allele=8625_31393,dbSNP=rs104894709,"MHC class II deficiency"
O14593/L195P "Disease mutation",allele=8625_31394,dbSNP=NULL,"Bare lymphocyte syndrome, complementation group B"
P47804/V132L "Disease mutation",allele=5995_5022,dbSNP=NULL,"Retinitis pigmentosa"
P47804/H152N "Disease mutation",allele=5995_5023,dbSNP=rs150808273,"Retinitis pigmentosa"
P47804/A234T "Disease mutation",allele=5995_5024,dbSNP=NULL,"Retinitis pigmentosa"
P41220/Q2R "Disease mutation",allele=5997_10050,dbSNP=rs141030117,"Hypertension"
P41220/Q2L "Disease mutation",allele=5997_10051,dbSNP=NULL,"Hypertension"
P41220/R44H "Disease mutation",allele=5997_10053,dbSNP=rs200339834,"Hypertension"
O75916/W299R "Disease mutation",allele=8787_35207,dbSNP=rs121908449,"Prolonged electroretinal response suppression"
P12271/G146D "Disease mutation",allele=6017_7782,dbSNP=NULL,"Retinitis punctata albescens"
P12271/R151Q "Disease mutation",allele=6017_7784,dbSNP=rs28933989,"Retinitis pigmentosa, autosomal recessive"
P12271/I201T "Disease mutation",allele=6017_7785,dbSNP=rs138965708,"Retinitis punctata albescens"
P12271/M226K "Disease mutation",allele=6017_7786,dbSNP=rs137853291,"Retinitis punctata albescens"
Q8TDP1/R13H "Disease mutation",allele=84153_20838,dbSNP=rs75328625,"Aicardi-Goutieres syndrome"
Q8TDP1/R69W "Disease mutation",allele=84153_20839,dbSNP=rs78635798,"Aicardi-Goutieres syndrome"
Q8TDP1/P76L "Disease mutation",allele=84153_20840,dbSNP=rs76091978,"Aicardi-Goutieres syndrome"
Q8TDP1/P138L "Disease mutation",allele=84153_20841,dbSNP=NULL,"Aicardi-Goutieres syndrome"
Q03395/P60T "Disease mutation",allele=6094_4926,dbSNP=rs199757012,"Retinitis pigmentosa ?"
Q03395/G113E "Disease mutation",allele=6094_4929,dbSNP=rs145383959,"Retinitis pigmentosa"
O75695/C86Y "Disease mutation",allele=6102_19275,dbSNP=NULL,"Retinitis pigmentosa, X-linked"
O75695/R118H "Disease mutation",allele=6102_19281,dbSNP=rs28933687,"Retinitis pigmentosa, X-linked"
O75695/L253R "Disease mutation",allele=6102_19294,dbSNP=NULL,"Retinitis pigmentosa, X-linked"
O75695/R282W "Disease mutation",allele=6102_19295,dbSNP=rs1805147,"Retinitis pigmentosa, X-linked"
Q13156/A33T "Disease mutation",allele=29935_23166,dbSNP=rs2642219,"Single strand breaks, association with"
Q16518/G104D "Disease mutation",allele=6121_36059,dbSNP=NULL,"Leber congenital amaurosis"
Q16518/E148D "Disease mutation",allele=6121_36064,dbSNP=rs61752882,"Leber congenital amaurosis"
Q16518/P363T "Disease mutation",allele=6121_36085,dbSNP=rs121917744,"Retinal dystrophy, severe, childhood onset"
Q16518/T457N "Disease mutation",allele=6121_36098,dbSNP=rs62637005,"Cone-rod dystrophy, early-onset, severe"
Q92834/H98Q "Disease mutation",allele=6103_17161,dbSNP=rs62638636,"Retinitis pigmentosa"
Q92834/T255I "Disease mutation",allele=6103_17181,dbSNP=NULL,"Retinitis pigmentosa"
Q92834/G436D "Disease mutation",allele=6103_17202,dbSNP=rs62635004,"Retinitis pigmentosa"
Q92834/R425K "Non-disease variant",allele=6103_900179,dbSNP=rs1801687,"NULL"
Q92834/Q184H "Non-disease variant",allele=6103_900187,dbSNP=rs5963403,"NULL"
P49247/A135V "Disease mutation",allele=22934_1830,dbSNP=rs121918591,"Ribose-5-phosphate isomerase deficiency"
P62913/L20H "Disease mutation",allele=6135_12308,dbSNP=NULL,"Diamond-Blackfan anaemia"
P39019/V15F "Disease mutation",allele=6223_6053,dbSNP=rs104894717,"Diamond-Blackfan anaemia"
P39019/R62W "Disease mutation",allele=6223_6069,dbSNP=rs104894711,"Diamond-Blackfan anaemia"
P39019/R101H "Disease mutation",allele=6223_6074,dbSNP=NULL,"Diamond-Blackfan anaemia"
P39019/G127E "Disease mutation",allele=6223_6078,dbSNP=NULL,"Diamond-Blackfan anaemia"
P51812/G75V "Disease mutation",allele=6197_31068,dbSNP=rs122454124,"Coffin-Lowry syndrome"
P51812/I189K "Disease mutation",allele=6197_31082,dbSNP=rs122454130,"Coffin-Lowry syndrome"
P51812/G431D "Disease mutation",allele=6197_31102,dbSNP=NULL,"Coffin-Lowry syndrome"
P51812/R667S "Disease mutation",allele=6197_31122,dbSNP=NULL,"Coffin-Lowry syndrome"
Q7LG56/W64R "Disease mutation",allele=50484_27904,dbSNP=NULL,"Mitochondrial DNA depletion syndrome"
Q7LG56/C236F "Disease mutation",allele=50484_27909,dbSNP=rs121918309,"Mitochondrial DNA depletion syndrome"
Q7LG56/L317V "Disease mutation",allele=50484_27912,dbSNP=NULL,"Mitochondrial DNA depletion syndrome"
Q9BZR6/R227C "Disease mutation",allele=65078_12291,dbSNP=NULL,"Schizophrenia susceptibility ?"
Q9BZR6/L347R "Disease mutation",allele=65078_12292,dbSNP=NULL,"Schizophrenia susceptibility ?"
Q9BZR6/R399W "Disease mutation",allele=65078_12295,dbSNP=rs200119628,"Schizophrenia susceptibility ?"
P48443/G14S "Disease mutation",allele=6258_12775,dbSNP=NULL,"Hyperlipidaemia, association with"
Q9UJQ4/V754M "Disease mutation",allele=57167_25985,dbSNP=rs199607966,"Holt-Oram syndrome ?"
Q9UJQ4/H888R "Disease mutation",allele=57167_25989,dbSNP=rs74315429,"Cranial midline defects/ mild Okihiro syndrome"
Q15020/V591M "Disease mutation",allele=9733_36630,dbSNP=rs118203954,"Disseminated superficial actinic porokeratosis"
Q9Y3A5/N8K "Disease mutation",allele=51119_23363,dbSNP=rs28942099,"Shwachman-Diamond syndrome"
Q9Y3A5/R126T "Disease mutation",allele=51119_23372,dbSNP=rs113993995,"Shwachman-Diamond syndrome"
Q9Y3A5/S143W "Disease mutation",allele=51119_23373,dbSNP=NULL,"Shwachman-Diamond syndrome"
O75845/R29Q "Disease mutation",allele=6309_10896,dbSNP=rs104894295,"Lathosterolosis"
O75845/Y46S "Disease mutation",allele=6309_10897,dbSNP=rs104894297,"Lathosterolosis"
O75845/G211D "Disease mutation",allele=6309_10898,dbSNP=rs104894296,"Lathosterolosis"
Q8WTV0/A350A "Disease mutation",allele=949_10986,dbSNP=rs5888,"Lipoprotein levels, association with"
Q14108/H363N "Disease mutation",allele=950_5308,dbSNP=NULL,"Myoclonic epilepsy   "
Q07699/R85C "Disease mutation",allele=6324_14122,dbSNP=NULL,"Epilepsy, generalised, with febrile seizures"
Q07699/R85H "Disease mutation",allele=6324_14123,dbSNP=rs16969925,"Epilepsy, generalised, with febrile seizures"
Q07699/E87Q "Disease mutation",allele=6324_14124,dbSNP=rs121434627,"Cardiac conduction disease"
Q07699/C121W "Disease mutation",allele=6324_14125,dbSNP=rs104894718,"Epilepsy, generalised, with febrile seizures"
P51168/S82C "Disease mutation",allele=6338_18863,dbSNP=rs35731153,"Cystic fibrosis, non-classic"
P51168/N288S "Disease mutation",allele=6338_18866,dbSNP=rs137852712,"Bronchiectasis"
P51168/P618L "Disease mutation",allele=6338_18881,dbSNP=rs137852705,"Liddle syndrome"
P51170/G183S "Disease mutation",allele=6340_18383,dbSNP=rs5736,"Bronchiectasis"
P51170/E197K "Disease mutation",allele=6340_18384,dbSNP=rs5738,"Bronchiectasis"
P51170/N530S "Disease mutation",allele=6340_18386,dbSNP=rs148985177,"Liddle syndrome"
P51170/L609F "Disease mutation",allele=6340_18391,dbSNP=NULL,"Hypertension"
O75880/P174L "Disease mutation",allele=6341_1902,dbSNP=rs104894630,"Cytochrome c oxidase deficiency"
O43819/C133Y "Disease mutation",allele=9997_25113,dbSNP=rs28937868,"Cytochrome c oxidase deficiency"
O43819/E140K "Disease mutation",allele=9997_25114,dbSNP=rs74315511,"Cytochrome c oxidase deficiency"
O43819/L151P "Disease mutation",allele=9997_25115,dbSNP=NULL,"Cytochrome c oxidase deficiency"
O43819/S225F "Disease mutation",allele=9997_25119,dbSNP=rs80358232,"Cytochrome c oxidase deficiency"
O75056/V208I "Disease mutation",allele=9672_11465,dbSNP=rs2491132,"Obesity, association with"
O75056/D303N "Non-disease variant",allele=9672_900194,dbSNP=rs4949184,"NULL"
P31040/A83V "Disease mutation",allele=6389_13428,dbSNP=NULL,"Leigh syndrome"
P31040/R451C "Disease mutation",allele=6389_13430,dbSNP=NULL,"Optic atrophy, ataxia, myopathy"
P31040/A524V "Disease mutation",allele=6389_13431,dbSNP=rs137852767,"Leigh syndrome"
P31040/R554W "Disease mutation",allele=6389_13432,dbSNP=rs9809219,"Leigh syndrome"
P21912/G53R "Disease mutation",allele=6390_9505,dbSNP=NULL,"Phaeochromacytoma"
P21912/L87S "Disease mutation",allele=6390_9510,dbSNP=NULL,"Phaeochromacytoma ?"
P21912/C186Y "Disease mutation",allele=6390_9530,dbSNP=NULL,"Paraganglioma"
P21912/R230L "Disease mutation",allele=6390_9545,dbSNP=NULL,"Paraganglioma"
Q99643/R50C "Disease mutation",allele=6391_17559,dbSNP=NULL,"Paraganglioma"
Q99643/C70W "Disease mutation",allele=6391_17563,dbSNP=NULL,"Paraganglioma"
Q99643/G75D "Disease mutation",allele=6391_17565,dbSNP=NULL,"Paraganglioma"
Q99643/L158P "Disease mutation",allele=6391_17568,dbSNP=NULL,"Paraganglioma"
O14521/G12S "Disease mutation",allele=6392_10294,dbSNP=rs34677591,"Paraganglioma ?"
O14521/L77R "Disease mutation",allele=6392_10307,dbSNP=NULL,"Paraganglioma"
O14521/L101P "Disease mutation",allele=6392_10315,dbSNP=NULL,"Paraganglioma"
O14521/G148D "Disease mutation",allele=6392_10327,dbSNP=NULL,"Paraganglioma and phaeochromocytoma"
P16581/S149R "Disease mutation",allele=6401_31897,dbSNP=rs5361,"Atherosclerosis, association with"
P16581/H468Y "Disease mutation",allele=6401_31898,dbSNP=rs5368,"Immunoglobulin A nephropathy, association with ?"
P16581/L575F "Disease mutation",allele=6401_31899,dbSNP=rs5355,"Atherosclerosis, association with"
Q14242/M62I "Disease mutation",allele=6404_15677,dbSNP=rs2228315,"Increased SELPLG plasma levels, association with"
O15041/S703L "Disease mutation",allele=9723_37399,dbSNP=rs121918341,"CHARGE syndrome"
Q9H3S1/D345H "Disease mutation",allele=64218_1356,dbSNP=rs267607033,"Retinitis pigmentosa"
Q9H3S1/F350C "Disease mutation",allele=64218_1357,dbSNP=rs267607034,"Retinitis pigmentosa"
Q9H3S1/R713Q "Disease mutation",allele=64218_1358,dbSNP=rs41265017,"Retinitis pigmentosa"
Q9UK55/S143Y "Disease mutation",allele=51156_21279,dbSNP=rs147367426,"Venous thromboembolic disease"
Q9UK55/F145L "Disease mutation",allele=51156_21280,dbSNP=rs117421112,"Venous thromboembolic disease"
Q9UK55/Q384R "Disease mutation",allele=51156_21282,dbSNP=rs2232710,"Venous thromboembolic disease"
P01011/L78P "Disease mutation",allele=12_3857,dbSNP=rs1800463,"Obstructive lung disease"
P01011/P252A "Disease mutation",allele=12_3858,dbSNP=rs17473,"Obstructive lung disease"
P01011/L266L "Disease mutation",allele=12_3859,dbSNP=rs113864331,"Alzheimer disease, reduced risk, association with"
P01011/M414V "Disease mutation",allele=12_3860,dbSNP=rs116929575,"Occlusive cerebrovascular disease"
P08185/L115H "Disease mutation",allele=866_22388,dbSNP=rs113418909,"Corticosteroid-binding globulin deficiency"
P08185/A246S "Disease mutation",allele=866_22389,dbSNP=rs2228541,"Higher CBG levels, association with"
P08185/D389N "Disease mutation",allele=866_22390,dbSNP=rs28929488,"Corticosteroid-binding globulin deficiency"
P05543/S72N "Disease mutation",allele=6906_21254,dbSNP=NULL,"Thyroxine-binding globulin deficiency"
P05543/A133P "Disease mutation",allele=6906_21256,dbSNP=rs28933688,"Thyroxine-binding globulin deficiency"
P05543/A211T "Disease mutation",allele=6906_21258,dbSNP=rs2234036,"Thyroxine-binding globulin deficiency"
P05543/Y329F "Disease mutation",allele=6906_21264,dbSNP=rs61754490,"Thyroxine-binding globulin deficiency"
Q96P15/W188R "Disease mutation",allele=89778_28468,dbSNP=rs1506419,"Non-inhibitory variant"
Q96P15/S303P "Disease mutation",allele=89778_28469,dbSNP=rs1395267,"Non-inhibitory variant"
P36952/P176S "Disease mutation",allele=5268_21003,dbSNP=rs2289519,"Decr. apoptosis and incr. colony formation in vitro, assoc. with"
P01008/P48H "Disease mutation",allele=462_21417,dbSNP=NULL,"Antithrombin deficiency"
P01008/R79C "Disease mutation",allele=462_21425,dbSNP=rs121909547,"Antithrombin deficiency"
P01008/L158P "Disease mutation",allele=462_21453,dbSNP=NULL,"Antithrombin deficiency"
P01008/N437K "Disease mutation",allele=462_21487,dbSNP=NULL,"Antithrombin deficiency"
P05546/R208H "Disease mutation",allele=3053_3304,dbSNP=rs5907,"Heparin cofactor 2 deficiency"
P05546/E447K "Disease mutation",allele=3053_3305,dbSNP=rs142451096,"Heparin cofactor 2 deficiency"
P05546/P462L "Disease mutation",allele=3053_3306,dbSNP=rs121912420,"Heparin cofactor 2 deficiency"
P36955/T72M "Disease mutation",allele=5176_8807,dbSNP=rs1136287,"Wet age-related macular degeneration, assoc. with"
P05155/L54Q "Disease mutation",allele=710_1107,dbSNP=NULL,"Angioneurotic oedema"
P05155/V218D "Disease mutation",allele=710_1138,dbSNP=NULL,"Angioneurotic oedema"
P05155/S255T "Disease mutation",allele=710_1147,dbSNP=NULL,"Angioneurotic oedema"
P05155/R466C "Disease mutation",allele=710_1218,dbSNP=rs28940870,"Angioneurotic oedema"
P05155/V56A "Non-disease variant",allele=710_900175,dbSNP=rs11546660,"NULL"
O75830/L6V "Disease mutation",allele=5276_15591,dbSNP=rs17246389,"Lung cancer, susceptibility to, association with"
Q7Z333/L1976R "Disease mutation",allele=23064_17762,dbSNP=rs121434379,"Ataxia with neuropathy"
Q7Z333/L1977F "Disease mutation",allele=23064_17763,dbSNP=rs121434380,"Ataxia-ocular apraxia 2"
Q7Z333/R2136H "Disease mutation",allele=23064_17764,dbSNP=rs121434378,"Amyotrophic lateral sclerosis 4, juvenile"
Q7Z333/R2444H "Disease mutation",allele=23064_17769,dbSNP=NULL,"Ataxia-ocular apraxia 2"
Q8IWL1/A91P "Disease mutation",allele=729238_31341,dbSNP=rs17886395,"Tuberculosis, assoc. with ?"
Q8IWL1/F198S "Disease mutation",allele=729238_31342,dbSNP=rs121917738,"Pulmonary fibrosis, idiopathic"
Q8IWL1/Q223K "Disease mutation",allele=729238_31343,dbSNP=rs1965708,"Tuberculosis, assoc. with ?"
Q8IWL1/G231V "Disease mutation",allele=729238_31344,dbSNP=rs121917737,"Pulmonary fibrosis, idiopathic"
P11686/P30L "Disease mutation",allele=6440_10350,dbSNP=NULL,"Interstitial lung disease"
P11686/H64P "Disease mutation",allele=6440_10351,dbSNP=NULL,"Interstitial lung disease ?"
P11686/Y104H "Disease mutation",allele=6440_10355,dbSNP=NULL,"Interstitial lung disease"
P11686/C189G "Disease mutation",allele=6440_10367,dbSNP=NULL,"Interstitial lung disease ?"
P35247/T180A "Disease mutation",allele=6441_21250,dbSNP=rs2243639,"Lung cancer, susceptibility to, association with"
Q16586/L89F "Disease mutation",allele=6442_15445,dbSNP=NULL,"Muscular dystrophy, limb girdle 2D"
Q16586/R98H "Disease mutation",allele=6442_15454,dbSNP=rs137852621,"Muscular dystrophy, limb girdle"
Q16586/T208I "Disease mutation",allele=6442_15475,dbSNP=NULL,"Muscular dystrophy, limb girdle"
Q16586/M312R "Disease mutation",allele=6442_15485,dbSNP=NULL,"Muscular dystrophy, limb girdle"
Q92629/A131P "Disease mutation",allele=6444_21291,dbSNP=rs267607045,"Muscular dystrophy, limb girdle"
Q92629/N211Y "Disease mutation",allele=6444_21295,dbSNP=NULL,"Muscular dystrophy, limb girdle"
Q92629/E262K "Disease mutation",allele=6444_21296,dbSNP=rs121909297,"Muscular dystrophy, limb girdle"
O43556/H60P "Disease mutation",allele=8910_2563,dbSNP=NULL,"Myoclonus dystonia"
O43556/H60R "Disease mutation",allele=8910_2564,dbSNP=NULL,"Myoclonus dystonia"
O43556/L196R "Disease mutation",allele=8910_2575,dbSNP=rs121908491,"Myoclonus dystonia"
O43556/W270R "Disease mutation",allele=8910_2578,dbSNP=NULL,"Myoclonus dystonia"
P51688/S66W "Disease mutation",allele=6448_19374,dbSNP=rs104894637,"Sanfilippo syndrome A"
P51688/F193L "Disease mutation",allele=6448_19395,dbSNP=NULL,"Sanfilippo syndrome A"
P51688/D273N "Disease mutation",allele=6448_19405,dbSNP=NULL,"Sanfilippo syndrome A"
P51688/D444G "Disease mutation",allele=6448_19430,dbSNP=NULL,"Sanfilippo syndrome A"
O60880/R32T "Disease mutation",allele=4068_21307,dbSNP=rs111033624,"Lymphoproliferative syndrome, X-linked"
O60880/G93D "Disease mutation",allele=4068_21325,dbSNP=NULL,"Lymphoproliferative syndrome, X-linked"
O60880/P101L "Disease mutation",allele=4068_21328,dbSNP=rs28935184,"Lymphoproliferative syndrome, X-linked"
P04278/P185L "Disease mutation",allele=6462_36672,dbSNP=rs6258,"Hyperandrogenism"
P04278/D356N "Disease mutation",allele=6462_36673,dbSNP=rs6259,"Breast cancer, oestrogen-dependence, assoc. with ?"
P34896/S394N "Disease mutation",allele=6470_9895,dbSNP=rs139056136,"Neural tube defect ?"
Q15475/V17E "Disease mutation",allele=6495_9978,dbSNP=NULL,"Branchio-otic-renal syndrome"
Q15475/R110W "Disease mutation",allele=6495_9981,dbSNP=rs80356459,"Branchio-otic syndrome"
Q15475/R112C "Disease mutation",allele=6495_9983,dbSNP=NULL,"Branchio-otic-renal syndrome"
Q15475/D227Y "Disease mutation",allele=6495_9986,dbSNP=rs144481204,"Renal hypodysplasia"
Q9NPC8/L43F "Disease mutation",allele=10736_20662,dbSNP=rs142188105,"Renal hypodysplasia"
Q9NPC8/P241L "Disease mutation",allele=10736_20663,dbSNP=rs147806994,"Renal hypodysplasia"
Q12908/L169L "Disease mutation",allele=6555_28475,dbSNP=rs41281678,"Colorectal adenoma, increased risk, assoc. with"
Q12908/L243P "Disease mutation",allele=6555_28476,dbSNP=rs121917848,"Bile acid malabsorption, primary"
Q12908/T262M "Disease mutation",allele=6555_28477,dbSNP=rs72547505,"Bile acid malabsorption, primary"
Q12908/P290S "Disease mutation",allele=6555_28478,dbSNP=rs56398830,"Crohn's disease"
Q13621/F177Y "Disease mutation",allele=6557_18159,dbSNP=NULL,"Bartter syndrome, antenatal"
Q13621/R199G "Disease mutation",allele=6557_18161,dbSNP=NULL,"Bartter syndrome, antenatal"
Q13621/V272F "Disease mutation",allele=6557_18166,dbSNP=rs137853158,"Bartter syndrome"
Q13621/N399S "Disease mutation",allele=6557_18171,dbSNP=NULL,"Reduced blood pressure, association with"
Q13336/N74K "Disease mutation",allele=6563_19744,dbSNP=NULL,"JK-null variant"
Q13336/N280D "Disease mutation",allele=6563_19746,dbSNP=rs1058396,"Kidd blood group variant"
Q13336/S291P "Disease mutation",allele=6563_19747,dbSNP=rs78242949,"Kidd blood group variant"
Q13336/T319M "Disease mutation",allele=6563_19749,dbSNP=NULL,"JK-null variant"
P46059/P586L "Disease mutation",allele=6564_31161,dbSNP=rs56120058,"Reduced transport capacity, association with"
O00476/G201R "Disease mutation",allele=10786_21243,dbSNP=rs56027330,"Glycogen storage disease 1c ?"
Q8NDX2/A211V "Disease mutation",allele=246213_27748,dbSNP=rs121918339,"Deafness, nonsyndromic sensorineural 25"
P54219/T4P "Disease mutation",allele=6570_12038,dbSNP=rs2270641,"Schizophrenia, association with"
P54219/I136T "Disease mutation",allele=6570_12039,dbSNP=rs1390938,"Bipolar disorder, association with"
O60779/P51L "Disease mutation",allele=10560_5309,dbSNP=rs121908540,"Megaloblastic anaemia, thiamine responsive"
Q9BZV2/G23V "Disease mutation",allele=80704_17244,dbSNP=rs121917882,"Basal ganglia disease, biotin-responsive"
Q9BZV2/K44E "Disease mutation",allele=80704_17245,dbSNP=rs137852957,"Wernicke's-like encephalopathy"
Q9BZV2/E320Q "Disease mutation",allele=80704_17246,dbSNP=rs137852958,"Wernicke's-like encephalopathy"
Q9BZV2/T422A "Disease mutation",allele=80704_17247,dbSNP=rs121917884,"Basal ganglia disease, biotin-responsive"
O15245/C88R "Disease mutation",allele=6580_28422,dbSNP=rs55918055,"Altered substrate selectivity, association with"
O15245/S189L "Disease mutation",allele=6580_28423,dbSNP=rs34104736,"Reduced metformin uptake, association with"
O15245/P283L "Disease mutation",allele=6580_28425,dbSNP=rs4646277,"Altered substrate selectivity, association with"
O15245/G465R "Disease mutation",allele=6580_28429,dbSNP=rs34059508,"Reduced function, association with"
Q9NSA0/E278K "Disease mutation",allele=55867_15728,dbSNP=rs147522958,"Osteoporosis, association with"
Q96S37/H86H "Disease mutation",allele=116085_20150,dbSNP=rs3825016,"Increased fractional excretion of uric acid, assoc."
Q96S37/T217M "Disease mutation",allele=116085_20155,dbSNP=rs121907893,"Hypouricaemia, renal"
Q96S37/Q297E "Disease mutation",allele=116085_20159,dbSNP=NULL,"Gout, primary"
Q96S37/M430T "Disease mutation",allele=116085_20165,dbSNP=NULL,"Hypouricaemia, renal"
O15244/M165I "Disease mutation",allele=6582_23970,dbSNP=rs8177507,"Altered transporter function, association with"
O15244/T199I "Disease mutation",allele=6582_23971,dbSNP=rs201919874,"Decreased transporter function, association with"
O15244/T201M "Disease mutation",allele=6582_23972,dbSNP=rs145450955,"Decreased transporter function, association with"
O76082/Y449D "Disease mutation",allele=6584_12725,dbSNP=rs11568514,"Carnitine deficiency, systemic primary"
Q4U2R8/R454Q "Disease mutation",allele=9356_17644,dbSNP=rs11568634,"Decreased function, association with"
Q9UJS0/A25E "Disease mutation",allele=10165_11021,dbSNP=NULL,"Citrin deficiency"
Q9UJS0/T446P "Disease mutation",allele=10165_11030,dbSNP=rs200237622,"Intrahepatic cholestasis, neonatal"
Q9UJS0/C489R "Disease mutation",allele=10165_11031,dbSNP=NULL,"Intrahepatic cholestasis, neonatal"
Q9UJS0/E601K "Disease mutation",allele=10165_11038,dbSNP=rs80338727,"Citrullinaemia, adult onset, type II"
Q9Y619/T32R "Disease mutation",allele=10166_7917,dbSNP=rs121908536,"HHH syndrome"
Q9Y619/G113C "Disease mutation",allele=10166_7921,dbSNP=rs199894905,"HHH syndrome"
Q9Y619/E180K "Disease mutation",allele=10166_7924,dbSNP=rs104894424,"HHH syndrome"
Q9Y619/M273K "Disease mutation",allele=10166_7931,dbSNP=rs202247808,"HHH syndrome"
Q9H936/P206L "Disease mutation",allele=79751_13302,dbSNP=rs121918334,"Myoclinic epilepsy, neonatal"
Q96DW6/G130E "Disease mutation",allele=54977_1974,dbSNP=NULL,"Sideroblastic anaemia   "
Q96DW6/R134H "Disease mutation",allele=54977_1975,dbSNP=NULL,"Sideroblastic anaemia   "
Q96DW6/R187P "Disease mutation",allele=54977_1976,dbSNP=rs121918331,"Sideroblastic anaemia   "
Q96DW6/D209H "Disease mutation",allele=54977_1977,dbSNP=rs146864395,"Sideroblastic anaemia   "
P12235/A90D "Disease mutation",allele=291_4944,dbSNP=NULL,"Progressive external ophthalmoplegia"
P12235/A114P "Disease mutation",allele=291_4947,dbSNP=rs104893873,"Progressive external ophthalmoplegia"
P12235/A123D "Disease mutation",allele=291_4948,dbSNP=rs121912683,"Mito. myopathy & hypertrophic cardiomyopathy"
P12235/V289M "Disease mutation",allele=291_4949,dbSNP=rs104893874,"Progressive external ophthalmoplegia"
P50443/N77H "Disease mutation",allele=1836_18465,dbSNP=rs76784312,"Diastrophic dysplasia"
P50443/G255E "Disease mutation",allele=1836_18471,dbSNP=rs104893917,"Atelosteogenesis 2"
P50443/N425D "Disease mutation",allele=1836_18476,dbSNP=rs104893920,"Achondrogenesis 1B"
P50443/A715V "Disease mutation",allele=1836_18488,dbSNP=rs104893918,"Atelosteogenesis 2"
P58743/R150Q "Disease mutation",allele=375611_24414,dbSNP=NULL,"Deafness, non-syndromic ?"
O00337/V189I "Disease mutation",allele=9154_28241,dbSNP=rs2290272,"Reduced affinity for gemcitabine, association with"
O00337/S546P "Disease mutation",allele=9154_28242,dbSNP=rs45584739,"Concentrative nucleoside transporter deficiency ?"
O43868/F355S "Disease mutation",allele=9153_36115,dbSNP=rs17215633,"Altered substrate specificity, association with"
O43868/E385K "Disease mutation",allele=9153_36116,dbSNP=NULL,"Reduced transport activity, association with"
Q9BZD2/M116R "Disease mutation",allele=55315_32044,dbSNP=rs267607057,"Pigmented hypertrichosis with insulin-dependent diabetes"
Q9BZD2/G427S "Disease mutation",allele=55315_32045,dbSNP=rs121912583,"H syndrome"
Q9BZD2/G437R "Disease mutation",allele=55315_32046,dbSNP=rs121912584,"H syndrome"
Q9BZD2/T449R "Disease mutation",allele=55315_32048,dbSNP=rs267607058,"Pigmented hypertrichosis with insulin-dependent diabetes"
P11166/S66F "Disease mutation",allele=6513_33132,dbSNP=rs80359813,"Glucose transporter 1 deficiency syndrome"
P11166/R212H "Disease mutation",allele=6513_33144,dbSNP=NULL,"Glucose transporter 1 deficiency syndrome"
P11166/N317T "Disease mutation",allele=6513_33151,dbSNP=NULL,"Paroxysmal dyskinesia, exertion-induced & epilepsy"
P11166/P485L "Disease mutation",allele=6513_33157,dbSNP=NULL,"Glucose transporter 1 deficiency syndrome"
O95528/S81R "Disease mutation",allele=81031_27179,dbSNP=rs80358230,"Arterial tortuosity syndrome"
O95528/A206T "Disease mutation",allele=81031_27183,dbSNP=rs2235491,"Lower serum insulin level, association with?"
P11168/V197I "Disease mutation",allele=6514_22392,dbSNP=rs121909741,"Diabetes, NIDDM"
P11168/G318R "Disease mutation",allele=6514_22397,dbSNP=NULL,"Fanconi-Bickel syndrome"
P11168/V423E "Disease mutation",allele=6514_22402,dbSNP=rs28928874,"Fanconi-Bickel syndrome"
P11168/W444R "Disease mutation",allele=6514_22403,dbSNP=NULL,"Fanconi-Bickel syndrome"
P14672/V383I "Disease mutation",allele=6517_23122,dbSNP=rs121434581,"Diabetes, NIDDM"
P14672/I385T "Disease mutation",allele=6517_23123,dbSNP=NULL,"Diabetes, NIDDM"
Q9BRI3/H54R "Disease mutation",allele=7780_9170,dbSNP=NULL,"Zinc in breast milk, reduced"
Q8IWU4/R325W "Disease mutation",allele=169026_28446,dbSNP=rs13266634,"Diabetes, type 2, assoc. with"
O00400/S113R "Disease mutation",allele=9197_12866,dbSNP=rs121909484,"Spastic paraplegia, autosomal dominant"
Q96A29/R147C "Disease mutation",allele=55343_13700,dbSNP=rs28939087,"Congenital disorder of glycosylation 2c"
Q96A29/T308R "Disease mutation",allele=55343_13701,dbSNP=rs28937886,"Congenital disorder of glycosylation 2c"
Q495M3/G87V "Disease mutation",allele=153201_24353,dbSNP=rs77010315,"Reduced transport activity, association with"
Q6P5W5/P200L "Disease mutation",allele=55630_20435,dbSNP=rs121434287,"Acrodermatitis enteropathica"
Q6P5W5/G374R "Disease mutation",allele=55630_20443,dbSNP=rs121434289,"Acrodermatitis enteropathica"
Q9NP59/A77D "Disease mutation",allele=30061_18931,dbSNP=rs28939076,"Haemochromatosis, type 4"
Q9NP59/D157G "Disease mutation",allele=30061_18941,dbSNP=rs104893663,"Haemochromatosis, type 4"
Q9NP59/C326Y "Disease mutation",allele=30061_18956,dbSNP=NULL,"Iron overload"
Q9NP59/G490S "Disease mutation",allele=30061_18959,dbSNP=NULL,"Hyperferritinaemia"
Q9UMX9/P58A "Disease mutation",allele=51151_20494,dbSNP=NULL,"Oculocutaneous albinism 4"
Q9UMX9/G198D "Disease mutation",allele=51151_20504,dbSNP=rs201259497,"Oculocutaneous albinism 4"
Q9UMX9/T302S "Disease mutation",allele=51151_20510,dbSNP=NULL,"Oculocutaneous albinism 4"
Q9UMX9/L361P "Disease mutation",allele=51151_20514,dbSNP=rs28939380,"Oculocutaneous albinism 4"
Q96FL8/G64D "Disease mutation",allele=55244_5316,dbSNP=rs77630697,"Reduced transport activity, association with"
Q96FL8/A310V "Disease mutation",allele=55244_5317,dbSNP=NULL,"Reduced transport activity, association with"
Q96FL8/D328A "Disease mutation",allele=55244_5318,dbSNP=rs149774861,"Reduced transport activity, association with"
Q96FL8/N474S "Disease mutation",allele=55244_5319,dbSNP=NULL,"Reduced transport activity, association with"
P02730/K56E "Disease mutation",allele=6521_32899,dbSNP=rs5036,"Blood group variation"
P02730/G455E "Disease mutation",allele=6521_32912,dbSNP=NULL,"Spherocytosis"
P02730/R646W "Disease mutation",allele=6521_32936,dbSNP=rs121912758,"Blood group variation"
P02730/S731P "Disease mutation",allele=6521_32948,dbSNP=NULL,"Anaemia"
Q8WWX8/V182A "Disease mutation",allele=115584_18524,dbSNP=rs11074656,"Reduced serum myo-inositol concentration, assoc."
P31639/T51P "Disease mutation",allele=6524_31932,dbSNP=NULL,"Renal glucosuria"
P31639/V116M "Disease mutation",allele=6524_31936,dbSNP=rs146835104,"Renal glucosuria"
P31639/K311R "Disease mutation",allele=6524_31948,dbSNP=NULL,"Renal glucosuria"
P31639/R368W "Disease mutation",allele=6524_31952,dbSNP=rs148410166,"Renal glucosuria"
Q92911/G93R "Disease mutation",allele=6528_36469,dbSNP=rs121909178,"Iodide transport defect"
Q92911/Q267E "Disease mutation",allele=6528_36471,dbSNP=rs121909176,"Iodide transport defect"
Q92911/T354P "Disease mutation",allele=6528_36473,dbSNP=rs121909174,"Iodide transport defect"
Q92911/G543E "Disease mutation",allele=6528_36476,dbSNP=rs121909179,"Iodide transport defect"
Q9GZV3/I89V "Disease mutation",allele=60482_25881,dbSNP=rs1013940,"Reduced transport rate, association with"
Q9NP91/T199M "Disease mutation",allele=54716_30071,dbSNP=rs17279437,"Reduced transport activity, association with"
Q9NS82/E112D "Disease mutation",allele=56301_17693,dbSNP=rs79717007,"Cystinuria ?"
Q9UM01/T5I "Disease mutation",allele=9056_6097,dbSNP=NULL,"Lysinuric protein intolerance"
Q9UM01/A140P "Disease mutation",allele=9056_6101,dbSNP=NULL,"Lysinuric protein intolerance"
Q9UM01/L334R "Disease mutation",allele=9056_6111,dbSNP=rs72552272,"Lysinuric protein intolerance"
P82251/G105R "Disease mutation",allele=11136_21103,dbSNP=rs121908480,"Cystinuria, non-type I"
P82251/N227D "Disease mutation",allele=11136_21118,dbSNP=NULL,"Cystinuria"
P82251/V330M "Disease mutation",allele=11136_21130,dbSNP=rs201618022,"Cystinuria"
P82251/K401E "Disease mutation",allele=11136_21138,dbSNP=NULL,"Cystinuria"
O14745/L110V "Disease mutation",allele=9368_252,dbSNP=rs35910969,"Nephrolithiasis/bone demineralization"
O14745/R153Q "Disease mutation",allele=9368_253,dbSNP=rs41282065,"Nephrolithiasis/bone demineralization"
P46721/N135I "Disease mutation",allele=6579_35218,dbSNP=rs45502302,"Transport activity, association with"
P46721/E172D "Disease mutation",allele=6579_35219,dbSNP=rs11568563,"Transport activity, association with"
P46721/A187T "Disease mutation",allele=6579_35220,dbSNP=NULL,"Transport activity, association with"
Q9Y6L6/F73L "Disease mutation",allele=10599_31577,dbSNP=rs56101265,"Altered transport activity, association with"
Q9Y6L6/V174A "Disease mutation",allele=10599_31581,dbSNP=rs4149056,"Increased rate of cholesterol synthesis, association with"
Q9Y6L6/G488A "Disease mutation",allele=10599_31585,dbSNP=rs59502379,"Altered transport activity, association with"
Q9Y6L6/L543W "Disease mutation",allele=10599_31586,dbSNP=rs72661137,"Pravastatin-induced myopathy"
O94956/S486F "Disease mutation",allele=11309_18964,dbSNP=rs2306168,"Decreased enzyme activity, association with"
P55000/W15R "Disease mutation",allele=57152_23176,dbSNP=rs121908318,"Mal de Meleda"
P55000/R71H "Disease mutation",allele=57152_23178,dbSNP=NULL,"Mal de Meleda"
P55000/C77R "Disease mutation",allele=57152_23180,dbSNP=rs121908319,"Mal de Meleda"
P55000/L98P "Disease mutation",allele=57152_23184,dbSNP=NULL,"Mal de Meleda"
P84022/N197I "Disease mutation",allele=4088_20082,dbSNP=NULL,"Osteoarthritis"
P84022/I170V "Non-disease variant",allele=4088_900229,dbSNP=rs35874463,"NULL"
Q13485/Y353S "Disease mutation",allele=4089_8876,dbSNP=rs377767346,"Juvenile polyposis coli"
Q13485/R361C "Disease mutation",allele=4089_8879,dbSNP=rs80338963,"Juvenile polyposis coli"
Q13485/G508R "Disease mutation",allele=4089_8890,dbSNP=NULL,"Juvenile polyposis coli"
Q13485/G510V "Disease mutation",allele=4089_8892,dbSNP=rs377767371,"Juvenile polyposis coli"
P51531/D1546E "Disease mutation",allele=6595_20556,dbSNP=rs2296212,"Schizophrenia, association with   "
Q9NZC9/H379P "Disease mutation",allele=50485_19330,dbSNP=NULL,"Schimke immuno-osseous dysplasia"
Q9NZC9/A468P "Disease mutation",allele=50485_19331,dbSNP=NULL,"Schimke immuno-osseous dysplasia"
Q9NZC9/F702V "Disease mutation",allele=50485_19344,dbSNP=NULL,"Schimke immuno-osseous dysplasia"
Q9NZC9/R820H "Disease mutation",allele=50485_19349,dbSNP=rs200666300,"Schimke immuno-osseous dysplasia"
Q12824/P14H "Disease mutation",allele=6598_27717,dbSNP=NULL,"Schwannomatosis, familial"
Q12824/R53L "Disease mutation",allele=6598_27721,dbSNP=NULL,"Schwannomatosis, familial"
Q12824/N288K "Disease mutation",allele=6598_27729,dbSNP=NULL,"Schwannomatosis, familial ?"
Q12824/D369V "Disease mutation",allele=6598_27730,dbSNP=NULL,"Schwannomatosis, familial"
P17405/D51V "Disease mutation",allele=6609_18972,dbSNP=NULL,"Niemann-Pick disease"
P17405/G244R "Disease mutation",allele=6609_18990,dbSNP=rs120074122,"Niemann-Pick disease"
P17405/P332R "Disease mutation",allele=6609_19008,dbSNP=rs202081954,"Niemann-Pick disease"
P37840/A30P "Disease mutation",allele=6622_11061,dbSNP=rs104893878,"Parkinson disease"
P37840/E46K "Disease mutation",allele=6622_11062,dbSNP=rs104893875,"Parkinson disease"
P37840/A53T "Disease mutation",allele=6622_11063,dbSNP=rs104893877,"Parkinson disease"
Q9Y6H5/R621C "Disease mutation",allele=9627_34396,dbSNP=rs28937592,"Parkinson disease"
P00441/G38R "Disease mutation",allele=6647_14443,dbSNP=rs121912431,"Amyotrophic lateral sclerosis"
P00441/G42S "Disease mutation",allele=6647_14447,dbSNP=rs121912433,"Amyotrophic lateral sclerosis"
P00441/T117R "Disease mutation",allele=6647_14507,dbSNP=NULL,"Amyotrophic lateral sclerosis"
P00441/L127S "Disease mutation",allele=6647_14514,dbSNP=NULL,"Amyotrophic lateral sclerosis"
Q9BX66/T237A "Disease mutation",allele=10580_18225,dbSNP=rs2281939,"Obesity and diabetes, reduced risk, association"
P56693/S135T "Disease mutation",allele=6663_7976,dbSNP=rs74315515,"Yemenite deaf-blind hypopigmentation syndrome"
Q9UQ90/A10S "Disease mutation",allele=6687_9157,dbSNP=NULL,"Spastic paraplegia"
P00995/L14P "Disease mutation",allele=6690_15570,dbSNP=rs104893939,"Pancreatitis, chronic"
P00995/N34S "Disease mutation",allele=6690_15572,dbSNP=rs17107315,"Pancreatitis, chronic"
P00995/P55S "Disease mutation",allele=6690_15575,dbSNP=rs111966833,"Pancreatitis, chronic ?"
P00995/R65Q "Disease mutation",allele=6690_15576,dbSNP=rs141634296,"Pancreatitis, chronic"
O43291/Y163C "Disease mutation",allele=10653_1626,dbSNP=rs121908403,"Sodium diarrhoea"
P10451/D94D "Disease mutation",allele=6696_13424,dbSNP=rs4754,"Multiple sclerosis, susceptibility, assoc. with ?"
Q7Z699/S149N "Disease mutation",allele=161742_34699,dbSNP=NULL,"Cafe-au-lait spots, axill. freckling & macroceph."
O43597/D20A "Disease mutation",allele=10253_13976,dbSNP=rs141331436,"Cleft lip ?"
O43597/K68N "Disease mutation",allele=10253_13977,dbSNP=NULL,"Cleft lip ?"
Q13501/A381V "Disease mutation",allele=8878_6459,dbSNP=NULL,"Paget disease of bone"
Q13501/P387L "Disease mutation",allele=8878_6460,dbSNP=NULL,"Paget disease of bone"
Q13501/P392L "Disease mutation",allele=8878_6461,dbSNP=rs104893941,"Paget disease of bone"
Q13501/S399P "Disease mutation",allele=8878_6462,dbSNP=NULL,"Paget disease of bone"
O60687/N327S "Disease mutation",allele=27286_21935,dbSNP=rs121918363,"Rolandic epilepsy, oral dyspraxia, mental retardation"
Q8WYL5/S63N "Disease mutation",allele=54434_23978,dbSNP=NULL,"Porokeratosis, disseminated superficial actinic, 1"
Q9Y5Y6/G827R "Disease mutation",allele=6768_17522,dbSNP=rs137852931,"Ichthyosis, autosomal recessive with hypotrichosis"
P49675/M144R "Disease mutation",allele=6770_1248,dbSNP=NULL,"Congenital lipoid adrenal hyperplasia"
P49675/E169K "Disease mutation",allele=6770_1250,dbSNP=NULL,"Congenital lipoid adrenal hyperplasia"
P49675/A218V "Disease mutation",allele=6770_1260,dbSNP=rs137852690,"Congenital lipoid adrenal hyperplasia"
P49675/M225T "Disease mutation",allele=6770_1261,dbSNP=NULL,"Congenital lipoid adrenal hyperplasia"
P42224/E320Q "Disease mutation",allele=6772_7942,dbSNP=rs137852680,"Impaired mycobacterial immunity"
P42224/Q463H "Disease mutation",allele=6772_7943,dbSNP=rs137852679,"Impaired mycobacterial immunity"
P42224/L600P "Disease mutation",allele=6772_7944,dbSNP=rs137852678,"Impaired mycobacterial immunity"
P42224/L706S "Disease mutation",allele=6772_7945,dbSNP=rs137852677,"Impaired mycobacterial immunity"
P40763/R382W "Disease mutation",allele=6774_14012,dbSNP=rs113994135,"Hyper-IgE syndrome"
P40763/R382L "Disease mutation",allele=6774_14014,dbSNP=rs113994136,"Hyper-IgE syndrome"
P40763/N472D "Disease mutation",allele=6774_14026,dbSNP=NULL,"Hyper-IgE syndrome"
P40763/T620A "Disease mutation",allele=6774_14029,dbSNP=NULL,"Hyper-IgE syndrome"
Q8IWL8/Q7R "Disease mutation",allele=246744_28460,dbSNP=rs62063857,"Progressive supranuclear palsy, association with"
Q15831/L67P "Disease mutation",allele=6794_9903,dbSNP=rs137853077,"Peutz-Jeghers syndrome"
Q15831/L183L "Disease mutation",allele=6794_9937,dbSNP=NULL,"Peutz-Jeghers syndrome ?"
Q15831/S232P "Disease mutation",allele=6794_9943,dbSNP=NULL,"Peutz-Jeghers syndrome"
Q15831/F354L "Disease mutation",allele=6794_9966,dbSNP=rs59912467,"Peutz-Jeghers syndrome"
Q6ZVD7/L582F "Disease mutation",allele=219736_20312,dbSNP=rs41278530,"Preeclampsia"
Q6ZVD7/E608D "Disease mutation",allele=219736_20313,dbSNP=rs10509305,"Preeclampsia"
Q6ZVD7/N825I "Disease mutation",allele=219736_20314,dbSNP=rs41278532,"Preeclampsia"
Q9BX79/Q438R "Disease mutation",allele=64220_20974,dbSNP=NULL,"Anophthalmia syndrome"
P08842/S341L "Disease mutation",allele=412_36029,dbSNP=rs137853167,"Ichthyosis"
P08842/W372R "Disease mutation",allele=412_36031,dbSNP=rs137853165,"Ichthyosis"
P08842/R454C "Disease mutation",allele=412_36037,dbSNP=NULL,"Ichthyosis"
P61764/V84D "Disease mutation",allele=6812_13916,dbSNP=rs121918320,"Epileptic encephalopathy, early infantile"
P61764/C180Y "Disease mutation",allele=6812_13917,dbSNP=rs121918318,"Epileptic encephalopathy, early infantile"
P61764/M443R "Disease mutation",allele=6812_13918,dbSNP=rs121918319,"Epileptic encephalopathy, early infantile"
P61764/G544D "Disease mutation",allele=6812_13919,dbSNP=rs121918317,"Epileptic encephalopathy, early infantile"
O00338/D60A "Disease mutation",allele=6819_10056,dbSNP=rs72549391,"Reduced activity, association with"
O00338/R73Q "Disease mutation",allele=6819_10057,dbSNP=rs17036058,"Reduced activity, association with"
O00338/S111F "Disease mutation",allele=6819_10058,dbSNP=rs72549392,"Reduced activity, association with"
O00204/D191N "Disease mutation",allele=6820_4089,dbSNP=rs16982158,"Reduced activity, association with"
O00204/R230H "Disease mutation",allele=6820_4090,dbSNP=rs16982169,"Reduced activity, association with"
Q9UH99/G671S "Disease mutation",allele=25777_25980,dbSNP=rs2072797,"Non-Hodgkin lymphoma, increased risk, association with"
P51687/R217Q "Disease mutation",allele=6821_35079,dbSNP=rs121908007,"Sulphite oxidase deficiency"
P51687/R268Q "Disease mutation",allele=6821_35082,dbSNP=NULL,"Sulphite oxidase deficiency"
P51687/Q396R "Disease mutation",allele=6821_35087,dbSNP=NULL,"Sulphite oxidase deficiency"
P51687/W450R "Disease mutation",allele=6821_35090,dbSNP=NULL,"Sulphite oxidase deficiency"
Q15526/G124R "Disease mutation",allele=6834_15744,dbSNP=NULL,"Cytochrome c oxidase deficiency ?"
Q15526/L203P "Disease mutation",allele=6834_15751,dbSNP=NULL,"Leigh syndrome"
Q15526/Y274D "Disease mutation",allele=6834_15758,dbSNP=rs121918658,"Leigh syndrome"
O14994/S470N "Disease mutation",allele=8224_27917,dbSNP=rs5998526,"Schizophrenia, assoc. with ?"
O43759/K99E "Disease mutation",allele=9145_6423,dbSNP=NULL,"Bipolar disorder ?"
P08247/G217R "Disease mutation",allele=6855_20557,dbSNP=rs137852561,"Mental retardation, X-linked ?"
Q9UHF0/M90T "Disease mutation",allele=6866_20862,dbSNP=rs121918123,"Hypogonadotropic hypogonadism"
P29371/G93D "Disease mutation",allele=6870_33072,dbSNP=rs121918124,"Hypogonadotropic hypogonadism"
P29371/P353S "Disease mutation",allele=6870_33073,dbSNP=rs121918125,"Hypogonadotropic hypogonadism"
P37837/R192C "Disease mutation",allele=6888_12137,dbSNP=NULL,"Transaldolase deficiency"
P37837/R192H "Disease mutation",allele=6888_12138,dbSNP=rs151052416,"Transaldolase deficiency"
Q03519/M577V "Disease mutation",allele=6891_7961,dbSNP=rs2228391,"Sjogren's syndrome, association with"
P59533/A49P "Disease mutation",allele=5726_36373,dbSNP=rs713598,"Phenylthiocarbamide taste sensitivity, association"
P59533/V262A "Disease mutation",allele=5726_36374,dbSNP=rs1726866,"Phenylthiocarbamide taste sensitivity, association"
P59533/I296V "Disease mutation",allele=5726_36375,dbSNP=rs10246939,"Phenylthiocarbamide taste sensitivity, association"
P17735/R119W "Disease mutation",allele=6898_28861,dbSNP=NULL,"Tyrosinaemia 2"
P17735/P220S "Disease mutation",allele=6898_28864,dbSNP=NULL,"Tyrosinaemia 2"
P17735/L273P "Disease mutation",allele=6898_28866,dbSNP=NULL,"Tyrosinaemia 2"
P17735/R433W "Disease mutation",allele=6898_28869,dbSNP=NULL,"Tyrosinaemia 2"
Q16635/R94C "Disease mutation",allele=6901_5231,dbSNP=NULL,"Barth syndrome"
Q16635/G197V "Disease mutation",allele=6901_5239,dbSNP=NULL,"Barth syndrome"
Q16635/L210R "Disease mutation",allele=6901_5241,dbSNP=NULL,"Barth syndrome"
Q16635/G240R "Disease mutation",allele=6901_5245,dbSNP=NULL,"Cardiomyopathy, X-linked infantile"
Q9UMR3/A63T "Disease mutation",allele=57057_32038,dbSNP=rs201839825,"Congenital heart disease ?"
Q9UMR3/I121F "Disease mutation",allele=57057_32039,dbSNP=NULL,"Congenital heart disease"
Q9UMR3/I152M "Disease mutation",allele=57057_32040,dbSNP=rs137852954,"Congenital heart disease"
Q9UMR3/T262M "Disease mutation",allele=57057_32042,dbSNP=NULL,"Congenital heart disease"
Q9Y458/G118C "Disease mutation",allele=50945_13066,dbSNP=rs104894944,"Cleft palate and ankyloglossia"
Q9Y458/R120W "Disease mutation",allele=50945_13067,dbSNP=NULL,"Cleft palate and ankyloglossia"
Q9Y458/R151L "Disease mutation",allele=50945_13070,dbSNP=NULL,"Cleft palate, non-syndromic"
P24557/L83P "Disease mutation",allele=6916_13303,dbSNP=rs140005285,"Ghosal hematodiaphyseal dysplasia"
P24557/K258E "Disease mutation",allele=6916_13304,dbSNP=rs5769,"Catalytic activity, assoc. with ?"
P24557/R413Q "Disease mutation",allele=6916_13305,dbSNP=rs199422117,"Ghosal hematodiaphyseal dysplasia"
P24557/T451N "Disease mutation",allele=6916_13308,dbSNP=rs5763,"Catalytic activity, assoc. with ?"
O15273/R18Q "Disease mutation",allele=8557_11542,dbSNP=rs45614536,"Cardiomyopathy, dilated ?"
O15273/R70W "Disease mutation",allele=8557_11546,dbSNP=NULL,"Cardiomyopathy, hypertrophic, association with"
O15273/R87Q "Disease mutation",allele=8557_11548,dbSNP=rs121434298,"Cardiomyopathy, dilated"
O15273/E132Q "Disease mutation",allele=8557_11551,dbSNP=NULL,"Cardiomyopathy, dilated"
P15884/G358V "Disease mutation",allele=6925_32181,dbSNP=NULL,"Pitt-Hopkins syndrome"
P15884/R578P "Disease mutation",allele=6925_32187,dbSNP=rs121909123,"Pitt-Hopkins syndrome"
P15884/R578H "Disease mutation",allele=6925_32188,dbSNP=NULL,"Pitt-Hopkins syndrome"
P15884/R580Q "Disease mutation",allele=6925_32190,dbSNP=rs121909121,"Pitt-Hopkins syndrome"
P13385/V110L "Disease mutation",allele=6997_23531,dbSNP=NULL,"Congenital heart defects ?"
P13385/P125L "Disease mutation",allele=6997_23532,dbSNP=rs121909501,"Forebrain defects"
P28347/Y406H "Disease mutation",allele=7003_31609,dbSNP=rs11567847,"Sveinsson chorioretinal atrophy"
Q9UIF3/A229V "Disease mutation",allele=27285_17672,dbSNP=rs142723316,"Asthenozoospermia, non-syndromic ?"
P05549/R254W "Disease mutation",allele=7020_4070,dbSNP=rs151344528,"Branchio-oculo-facial syndrome"
P05549/R255G "Disease mutation",allele=7020_4071,dbSNP=rs121909574,"Branchio-oculo-facial syndrome"
P05549/G262E "Disease mutation",allele=7020_4072,dbSNP=rs121909575,"Branchio-oculo-facial syndrome"
P10646/P179L "Disease mutation",allele=7035_1829,dbSNP=rs140515889,"Thrombophilia, association with"
Q9UP52/M172K "Disease mutation",allele=7036_36691,dbSNP=rs80338879,"Haemochromatosis"
Q9UP52/Q690P "Disease mutation",allele=7036_36699,dbSNP=rs80338889,"Haemochromatosis"
Q15582/L509R "Disease mutation",allele=7045_7359,dbSNP=rs121909216,"Corneal dystrophy, epithelial basement membrane"
Q15582/R555Q "Disease mutation",allele=7045_7373,dbSNP=rs121909209,"Corneal dystrophy, Reis-Bucklers"
P37173/T96I "Disease mutation",allele=7048_18177,dbSNP=NULL,"Marfan syndrome II"
P37173/L308P "Disease mutation",allele=7048_18180,dbSNP=rs28934568,"Marfan syndrome II"
Q15583/S28C "Disease mutation",allele=7050_2914,dbSNP=rs121909066,"Holoprosencephaly"
Q15583/P63R "Disease mutation",allele=7050_2918,dbSNP=rs121909067,"Holoprosencephaly"
Q15583/R90C "Disease mutation",allele=7050_2919,dbSNP=NULL,"Holoprosencephaly"
Q15583/S162F "Disease mutation",allele=7050_2923,dbSNP=rs121909069,"Holoprosencephaly"
Q15583/P163L "Non-disease variant",allele=7050_900150,dbSNP=rs2229333,"NULL"
Q15583/P163S "Non-disease variant",allele=7050_900158,dbSNP=rs4468717,"NULL"
P21980/M330K "Disease mutation",allele=7052_7047,dbSNP=rs141603506,"Diabetes, type 2, early-onset"
P21980/I331N "Disease mutation",allele=7052_7048,dbSNP=NULL,"Diabetes, type 2, early-onset"
O43548/G113C "Disease mutation",allele=9333_33074,dbSNP=rs112292549,"Peeling skin syndrome"
P07101/H215Y "Disease mutation",allele=7054_36334,dbSNP=NULL,"Parkinsonism, L-DOPA-responsive"
P07101/T245P "Disease mutation",allele=7054_36336,dbSNP=rs28934581,"Parkinsonism, L-DOPA-responsive"
P07101/C328F "Disease mutation",allele=7054_36341,dbSNP=rs121917765,"Tyrosine hydroxylase deficiency"
P07101/Q381K "Disease mutation",allele=7054_36345,dbSNP=rs121917762,"Segawa syndrome"
Q9NVV9/F81L "Disease mutation",allele=55145_2857,dbSNP=rs118204013,"Dystonia 6"
P10828/A268G "Disease mutation",allele=7068_25192,dbSNP=NULL,"Thyroid hormone resistance"
P10828/S314C "Disease mutation",allele=7068_25207,dbSNP=NULL,"Thyroid hormone resistance"
P10828/Q374K "Disease mutation",allele=7068_25248,dbSNP=NULL,"Thyroid hormone resistance"
P10828/P453H "Disease mutation",allele=7068_25274,dbSNP=rs121918687,"Thyroid hormone resistance"
O43615/P308Q "Disease mutation",allele=10469_17554,dbSNP=rs139625465,"Oncocytic thyroid carcinoma"
O43615/A424A "Disease mutation",allele=10469_17555,dbSNP=rs138385134,"Oncocytic thyroid carcinoma"
O60220/C66W "Disease mutation",allele=1678_10237,dbSNP=rs80356560,"Mohr-Tranebjaerg syndrome"
P16035/S101S "Disease mutation",allele=7077_22595,dbSNP=rs2277698,"Abdominal aortic aneurysm, male, association ?"
P35625/G190C "Disease mutation",allele=7078_11130,dbSNP=NULL,"Fundus dystrophy, Sorsby"
P35625/Y191C "Disease mutation",allele=7078_11131,dbSNP=rs137853299,"Fundus dystrophy, Sorsby"
P35625/S193C "Disease mutation",allele=7078_11132,dbSNP=NULL,"Fundus dystrophy, Sorsby"
P35625/S204C "Disease mutation",allele=7078_11134,dbSNP=rs137853298,"Fundus dystrophy, Sorsby"
Q9BSI4/P236S "Disease mutation",allele=26277_9339,dbSNP=rs199422321,"Aplastic anaemia"
Q9BSI4/S245Y "Disease mutation",allele=26277_9340,dbSNP=rs142777869,"Aplastic anaemia"
Q9BSI4/E281K "Disease mutation",allele=26277_9343,dbSNP=rs199422322,"Low white blood cells"
Q9BSI4/L287P "Disease mutation",allele=26277_9351,dbSNP=rs199422316,"Dyskeratosis congenita"
Q9BSI4/G237D "Non-disease variant",allele=26277_900184,dbSNP=rs17102313,"NULL"
P58753/S180L "Disease mutation",allele=114609_17569,dbSNP=rs8177374,"Infectious disease, prot. against, assoc. with"
Q15399/R80T "Disease mutation",allele=7096_34502,dbSNP=rs5743611,"Colorectal cancer, increased risk, assoc. with"
Q15399/P315L "Disease mutation",allele=7096_34503,dbSNP=rs5743613,"Impaired receptor function, association with"
Q15399/I602S "Disease mutation",allele=7096_34504,dbSNP=rs5743618,"Leprosy, protection against, association with"
Q9BXR5/N241H "Disease mutation",allele=81793_34491,dbSNP=rs11096957,"Prostate cancer, increased risk, association with ?"
O60603/T411I "Disease mutation",allele=7097_17694,dbSNP=rs5743699,"Reduced activity, association with"
O60603/P631H "Disease mutation",allele=7097_17696,dbSNP=rs5743704,"Meningococcal disease, reduced risk, association with ?"
O60603/R677W "Disease mutation",allele=7097_17697,dbSNP=rs121917864,"Leprosy, susceptibility, association with"
O60603/R753Q "Disease mutation",allele=7097_17699,dbSNP=rs5743708,"Bacterial infection, association with"
O15455/N284I "Disease mutation",allele=7098_31165,dbSNP=rs5743316,"Altered activity, association with"
O15455/F303S "Disease mutation",allele=7098_31166,dbSNP=NULL,"Encephalopathy, influenza-associated"
O15455/L412F "Disease mutation",allele=7098_31167,dbSNP=rs3775291,"Altered activity, association with"
O15455/P554S "Disease mutation",allele=7098_31168,dbSNP=rs121434431,"TLR3 deficiency"
Q9Y2C9/P249S "Disease mutation",allele=10333_31157,dbSNP=rs5743810,"Asthma, decreased risk, association with"
Q9Y2C9/T255I "Disease mutation",allele=10333_31159,dbSNP=rs5743811,"Tuberculosis, susceptibility to, association with"
Q9NYK1/Q11L "Disease mutation",allele=51284_18089,dbSNP=rs179008,"Chronic HCV infection in females, association with"
Q9BTV4/S358L "Disease mutation",allele=79188_6046,dbSNP=rs63750743,"Arrhythmogenic right ventricular cardiomyopathy"
Q6ZMR5/R293Q "Disease mutation",allele=339967_25936,dbSNP=rs353163,"Oesophageal cancer, assoc. with ?"
P57727/R109W "Disease mutation",allele=64699_35804,dbSNP=rs201632198,"Neurosensory deafness"
P57727/R216L "Disease mutation",allele=64699_35808,dbSNP=rs137853000,"Neurosensory deafness"
P57727/A306T "Disease mutation",allele=64699_35810,dbSNP=rs181949335,"Neurosensory deafness"
P57727/C407R "Disease mutation",allele=64699_35813,dbSNP=NULL,"Neurosensory deafness"
Q9H3S3/A317S "Disease mutation",allele=80975_31767,dbSNP=NULL,"Deafness"
P21580/F127C "Disease mutation",allele=7128_23262,dbSNP=rs2230926,"Systemic lupus erythematosus, association with ?"
O00300/C65R "Disease mutation",allele=4982_20863,dbSNP=NULL,"Paget disease, juvenile"
O00300/C87Y "Disease mutation",allele=4982_20864,dbSNP=rs104894091,"Paget disease, juvenile"
O00300/F117L "Disease mutation",allele=4982_20865,dbSNP=rs104894092,"Paget disease, juvenile"
O14836/C104R "Disease mutation",allele=23495_25940,dbSNP=rs34557412,"Immunodeficiency, common variable"
O14836/A149T "Disease mutation",allele=23495_25943,dbSNP=rs72553880,"Antibody deficiency"
O14836/L171R "Disease mutation",allele=23495_25946,dbSNP=rs143027621,"Immunodeficiency, common variable"
O14836/V246F "Disease mutation",allele=23495_25951,dbSNP=rs72553886,"Antibody deficiency"
O14836/P251L "Non-disease variant",allele=23495_900178,dbSNP=rs34562254,"NULL"
O14836/K188M "Non-disease variant",allele=23495_900189,dbSNP=rs74811083,"NULL"
O14836/V220A "Non-disease variant",allele=23495_900190,dbSNP=rs56063729,"NULL"
P20333/M196R "Disease mutation",allele=7133_20085,dbSNP=rs1061622,"Systemic lupus erythematosus, association with"
P63316/L29Q "Disease mutation",allele=7134_17402,dbSNP=rs267607123,"Cardiomyopathy, hypertrophic"
P63316/D75Y "Disease mutation",allele=7134_17403,dbSNP=NULL,"Cardiomyopathy, dilated"
P63316/C84Y "Disease mutation",allele=7134_17404,dbSNP=rs267607126,"Cardiomyopathy, hypertrophic"
P63316/E134D "Disease mutation",allele=7134_17405,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P48788/R174Q "Disease mutation",allele=7136_20907,dbSNP=rs104894311,"Distal arthrogryposis syndrome 2b"
P19429/A2V "Disease mutation",allele=7137_30770,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P19429/P82S "Disease mutation",allele=7137_30772,dbSNP=rs77615401,"Cardiomyopathy, hypertrophic"
P19429/R145Q "Disease mutation",allele=7137_30779,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P19429/G203R "Disease mutation",allele=7137_30798,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
P45379/A28V "Disease mutation",allele=7139_7871,dbSNP=rs200754249,"Increased left ventricular wall thickness"
P45379/N271I "Disease mutation",allele=7139_7907,dbSNP=NULL,"Cardiomyopathy, hypertrophic"
O14656/D216H "Disease mutation",allele=1861_5671,dbSNP=rs1801968,"Torsion dystonia, phenotype modifier, association with"
O14656/R288Q "Disease mutation",allele=1861_5672,dbSNP=NULL,"Torsion dystonia, early onset"
P04637/V31I "Disease mutation",allele=7157_6902,dbSNP=rs201753350,"Gastric cancer"
P04637/P152L "Disease mutation",allele=7157_6929,dbSNP=NULL,"Adrenocortical carcinoma"
P04637/G245C "Disease mutation",allele=7157_6983,dbSNP=NULL,"Li-Fraumeni syndrome"
P04637/R337H "Disease mutation",allele=7157_7040,dbSNP=rs121912664,"Adrenocortical carcinoma"
Q9H3D4/G115W "Disease mutation",allele=8626_19213,dbSNP=NULL,"Limb-mammary syndrome"
Q9H3D4/D351N "Disease mutation",allele=8626_19243,dbSNP=NULL,"EEC syndrome"
Q9H3D4/I549T "Disease mutation",allele=8626_19247,dbSNP=rs121908845,"Rapp-Hodgkin syndrome"
Q8IWU9/P206S "Disease mutation",allele=121278_31711,dbSNP=rs17110563,"Bipolar affective disorder, association with"
Q8IWU9/R303W "Disease mutation",allele=121278_31712,dbSNP=rs120074176,"Attention deficit hyperactivity disorder"
Q8IWU9/P312P "Disease mutation",allele=121278_31713,dbSNP=rs7305115,"Increased mRNA expression, association with ?"
Q8IWU9/R441H "Disease mutation",allele=121278_31714,dbSNP=rs120074175,"Unipolar major depression, association with"
P60174/C42Y "Disease mutation",allele=7167_9620,dbSNP=rs121964848,"Triosephosphate isomerase deficiency"
P60174/E105D "Disease mutation",allele=7167_9623,dbSNP=rs121964845,"Triosephosphate isomerase deficiency"
P60174/I171V "Disease mutation",allele=7167_9627,dbSNP=rs121964849,"Triosephosphate isomerase deficiency"
P60174/F241L "Disease mutation",allele=7167_9630,dbSNP=rs121964847,"Triosephosphate isomerase deficiency"
P09493/E40K "Disease mutation",allele=7168_8945,dbSNP=rs104894501,"Cardiomyopathy, dilated"
P09493/V95A "Disease mutation",allele=7168_8950,dbSNP=rs104894504,"Cardiomyopathy, hypertrophic"
P09493/D175N "Disease mutation",allele=7168_8952,dbSNP=rs28934270,"Cardiomyopathy, hypertrophic"
P09493/M281T "Disease mutation",allele=7168_8956,dbSNP=rs199476321,"Cardiomyopathy, hypertrophic"
P07951/E41K "Disease mutation",allele=7169_12298,dbSNP=rs137853306,"Nemaline myopathy"
P07951/R91G "Disease mutation",allele=7169_12299,dbSNP=rs104894127,"Distal arthrogryposis syndrome 1"
P07951/E117K "Disease mutation",allele=7169_12300,dbSNP=rs104894129,"Nemaline myopathy"
P07951/Q147P "Disease mutation",allele=7169_12302,dbSNP=rs104894128,"Nemaline myopathy"
P06753/M9R "Disease mutation",allele=7170_10339,dbSNP=rs80358247,"Nemaline myopathy"
P06753/L100M "Disease mutation",allele=7170_10341,dbSNP=rs121964853,"Fibre-type disproportion myopathy, congenital"
P06753/R168G "Disease mutation",allele=7170_10342,dbSNP=rs121964854,"Fibre-type disproportion myopathy, congenital"
P06753/R245G "Disease mutation",allele=7170_10346,dbSNP=rs199474718,"Fibre-type disproportion myopathy, congenital"
P51580/L49S "Disease mutation",allele=7172_10067,dbSNP=rs72552740,"TPMT deficiency, association with"
P51580/A80P "Disease mutation",allele=7172_10070,dbSNP=rs1800462,"TPMT deficiency, association with"
P51580/G144R "Disease mutation",allele=7172_10074,dbSNP=rs72552737,"TPMT deficiency, association with"
P51580/R215H "Disease mutation",allele=7172_10081,dbSNP=rs56161402,"Thiopurine S-methyltransferase variant"
P07202/A53P "Disease mutation",allele=7173_23979,dbSNP=NULL,"Total iodide organification defect"
P07202/S131P "Disease mutation",allele=7173_23980,dbSNP=rs201800220,"Hypothyroidism"
O14773/G77R "Disease mutation",allele=1200_2166,dbSNP=rs121908195,"Neuronal ceroid lipofuscinosis, late infantile"
O14773/R206H "Disease mutation",allele=1200_2173,dbSNP=rs121908209,"Neuronal ceroid lipofuscinosis, late infantile"
O14773/P544S "Disease mutation",allele=1200_2204,dbSNP=rs121908210,"Neuronal ceroid lipofuscinosis, late infantile"
O60296/I142V "Disease mutation",allele=66008_18293,dbSNP=rs13022344,"Alzheimer disease, late-onset, association with"
Q9NSU2/R114H "Disease mutation",allele=11277_20846,dbSNP=rs72556554,"Aicardi-Goutieres syndrome"
Q9NSU2/A158V "Disease mutation",allele=11277_20848,dbSNP=NULL,"Systemic lupus erythematosus"
Q9NSU2/G306A "Disease mutation",allele=11277_20857,dbSNP=NULL,"Systemic lupus erythematosus"
Q96RU7/Q84R "Disease mutation",allele=57761_10895,dbSNP=rs2295490,"Insulin resistance, assoc. with"
Q13049/P130S "Disease mutation",allele=22954_7115,dbSNP=rs111033571,"Bardet-Biedl syndrome"
Q13049/R394H "Disease mutation",allele=22954_7116,dbSNP=rs121434447,"Muscular dystrophy, limb girdle 2H"
Q13049/D487N "Disease mutation",allele=22954_7117,dbSNP=rs111033570,"Muscular dystrophy, limb girdle 2H"
O94972/C109S "Disease mutation",allele=4591_3340,dbSNP=rs121908391,"Mulibrey nanism"
O94972/G322V "Disease mutation",allele=4591_3342,dbSNP=NULL,"Mulibrey nanism"
Q9C035/H43Y "Disease mutation",allele=85363_14059,dbSNP=rs3740996,"Impaired retroviral defence, association with"
Q9C035/R136Q "Disease mutation",allele=85363_14060,dbSNP=rs10838525,"HIV 1, resistance to, association with"
Q9UHF7/R814L "Disease mutation",allele=7227_31629,dbSNP=rs146506752,"Tricho-rhino-phalangeal syndrome"
P43897/R333W "Disease mutation",allele=10102_34394,dbSNP=rs121909485,"Combined oxidative phosphorylation deficiency 3"
P01222/G49R "Disease mutation",allele=7252_23172,dbSNP=rs121918668,"Thyroid-stimulating hormone deficiency"
P01222/C105R "Disease mutation",allele=7252_23174,dbSNP=NULL,"Hypothyroidism"
P16473/P52T "Disease mutation",allele=7253_20319,dbSNP=rs2234919,"Hypothyroidism"
P16473/R109Q "Disease mutation",allele=7253_20321,dbSNP=rs121908865,"Thyroid-stimulating hormone resistance"
P16473/P162A "Disease mutation",allele=7253_20323,dbSNP=rs121908863,"Thyroid-stimulating hormone resistance"
P16473/A204V "Disease mutation",allele=7253_20326,dbSNP=NULL,"Hypothyroidism"
Q6SA08/V227I "Disease mutation",allele=283629_25926,dbSNP=NULL,"Infertility, association with ?"
Q6SA08/V255V "Disease mutation",allele=283629_25927,dbSNP=NULL,"Infertility, association with ?"
P02766/C30R "Disease mutation",allele=7276_16740,dbSNP=rs121918083,"Amyloidotic polyneuropathy"
P02766/V50M "Disease mutation",allele=7276_16751,dbSNP=rs28933979,"Amyloidotic polyneuropathy"
P02766/I93V "Disease mutation",allele=7276_16813,dbSNP=NULL,"Amyloidotic polyneuropathy"
P02766/R123S "Disease mutation",allele=7276_16831,dbSNP=NULL,"Amyloidosis"
Q71U36/E55K "Disease mutation",allele=7846_8725,dbSNP=NULL,"Lissencephaly"
Q71U36/I188L "Disease mutation",allele=7846_8726,dbSNP=rs137853045,"Lissencephaly"
Q71U36/L286F "Disease mutation",allele=7846_8730,dbSNP=NULL,"Lissencephaly"
Q71U36/R402L "Disease mutation",allele=7846_8734,dbSNP=NULL,"Lissencephaly"
Q9H4B7/R318W "Disease mutation",allele=81027_17674,dbSNP=rs121918555,"Macrothrombocytopaenia"
Q9BVA1/S172P "Disease mutation",allele=347733_9878,dbSNP=rs137853194,"Polymicrogyria, asymmetrical"
Q9BVA1/I210T "Disease mutation",allele=347733_9879,dbSNP=NULL,"Polymicrogyria, asymmetrical"
Q9BVA1/L228P "Disease mutation",allele=347733_9880,dbSNP=rs137853195,"Polymicrogyria, asymmetrical"
Q9BVA1/F265L "Disease mutation",allele=347733_9881,dbSNP=rs137853196,"Polymicrogyria, asymmetrical"
P49411/R339Q "Disease mutation",allele=7284_6726,dbSNP=rs121434452,"Combined oxidative phosphorylation deficiency"
P49411/G149S "Non-disease variant",allele=7284_900231,dbSNP=rs181219098,"NULL"
O00294/F382S "Disease mutation",allele=7287_18055,dbSNP=rs121909076,"Retinitis pigmentosa"
O00294/R420P "Disease mutation",allele=7287_18058,dbSNP=rs121909073,"Retinitis pigmentosa"
O00294/R482W "Disease mutation",allele=7287_18061,dbSNP=rs121909077,"Retinitis pigmentosa"
O00294/A496T "Disease mutation",allele=7287_18064,dbSNP=rs141980901,"Retinitis pigmentosa ?"
O43914/G49R "Disease mutation",allele=7305_979,dbSNP=NULL,"Nasu-Hakola disease"
P17643/T253M "Disease mutation",allele=7306_22591,dbSNP=rs202126779,"Albinism, oculocutaneous 3"
P17643/R356Q "Disease mutation",allele=7306_22592,dbSNP=rs281865424,"Albinism, oculocutaneous 3"
P17643/M452V "Disease mutation",allele=7306_22594,dbSNP=NULL,"Albinism, oculocutaneous 3"
Q05086/I329T "Disease mutation",allele=7337_11817,dbSNP=NULL,"Angelman syndrome"
Q05086/S349P "Disease mutation",allele=7337_11819,dbSNP=NULL,"Angelman syndrome"
Q05086/R506C "Disease mutation",allele=7337_11822,dbSNP=NULL,"Angelman syndrome"
Q05086/I804K "Disease mutation",allele=7337_11825,dbSNP=NULL,"Angelman syndrome"
P09936/S18Y "Disease mutation",allele=7345_7074,dbSNP=rs5030732,"Parkinson disease, lower risk, association with"
P09936/I93M "Disease mutation",allele=7345_7075,dbSNP=rs121917767,"Parkinson disease"
P25874/A64T "Disease mutation",allele=7350_24312,dbSNP=rs45539933,"Waist-to-hip ratio, association with"
P25874/V137M "Disease mutation",allele=7350_24313,dbSNP=NULL,"Obesity ?"
P25874/M229L "Disease mutation",allele=7350_24314,dbSNP=rs2270565,"Diabetes, type 2, susceptibility to, association"
P25874/K257N "Disease mutation",allele=7350_24315,dbSNP=NULL,"Obesity ?"
P55851/A55V "Disease mutation",allele=7351_12303,dbSNP=rs660339,"Enhanced metabolic efficiency, association with ?"
P55851/G174D "Disease mutation",allele=7351_12304,dbSNP=NULL,"Hyperinsulinism"
P55851/L175V "Disease mutation",allele=7351_12305,dbSNP=NULL,"Hyperinsulinism"
P55851/A268G "Disease mutation",allele=7351_12307,dbSNP=rs45490393,"Hyperinsulinism"
Q9HAW8/T202I "Disease mutation",allele=54575_20087,dbSNP=rs58704432,"Reduced activity, association with"
Q9HAW8/I211T "Disease mutation",allele=54575_20088,dbSNP=NULL,"Reduced activity, association with"
P22309/Q331R "Disease mutation",allele=54575_20093,dbSNP=rs72551348,"Crigler-Najjar syndrome 1"
P22309/R403C "Disease mutation",allele=54575_20115,dbSNP=NULL,"Crigler-Najjar syndrome 2"
Q6UWM9/T497A "Disease mutation",allele=79799_28859,dbSNP=rs13128286,"Reduced enzyme activity, association with"
P11172/R96G "Disease mutation",allele=7372_8921,dbSNP=rs121917890,"Oroticaciduria 1"
P11172/V109G "Disease mutation",allele=7372_8922,dbSNP=rs121917892,"Oroticaciduria 1"
P11172/G429R "Disease mutation",allele=7372_8923,dbSNP=rs121917891,"Oroticaciduria 1"
O14949/S45F "Disease mutation",allele=27089_12083,dbSNP=rs11544803,"Complex III deficiency"
P06132/P62L "Disease mutation",allele=7389_6834,dbSNP=rs121918060,"Porphyria, hepatoerythropoietic"
P06132/Y182C "Disease mutation",allele=7389_6856,dbSNP=NULL,"Porphyria, cutanea tarda"
P06132/S219F "Disease mutation",allele=7389_6867,dbSNP=NULL,"Porphyria, cutanea tarda"
P06132/G281E "Disease mutation",allele=7389_6875,dbSNP=rs121918057,"Porphyria"
P10746/P53L "Disease mutation",allele=7390_14655,dbSNP=rs121908013,"Porphyria, erythropoietic"
P10746/A69T "Disease mutation",allele=7390_14658,dbSNP=NULL,"Porphyria, erythropoietic"
P10746/G188R "Disease mutation",allele=7390_14667,dbSNP=rs121908017,"Porphyria, erythropoietic"
P10746/L237P "Disease mutation",allele=7390_14673,dbSNP=NULL,"Porphyria, erythropoietic"
Q495M9/L48P "Disease mutation",allele=124590_24374,dbSNP=rs104894651,"Usher syndrome 1g"
Q9BXU7/L346H "Disease mutation",allele=83844_31276,dbSNP=NULL,"Azoospermia / oligozoospermia"
O95399/S89N "Disease mutation",allele=10911_28459,dbSNP=rs2890565,"Reduced insulin sensitivity, association with"
Q8TAA9/V239I "Disease mutation",allele=81839_20657,dbSNP=rs121918218,"Neural tube defects"
Q8TAA9/R274Q "Disease mutation",allele=81839_20658,dbSNP=rs121918219,"Neural tube defects"
Q8TAA9/M328T "Disease mutation",allele=81839_20659,dbSNP=rs121918220,"Neural tube defects"
Q8TAA9/E347A "Non-disease variant",allele=81839_900176,dbSNP=rs34059106,"NULL"
O95292/P56S "Disease mutation",allele=9217_6900,dbSNP=rs74315431,"Amyotrophic lateral sclerosis"
P19320/G413A "Disease mutation",allele=7412_23521,dbSNP=rs3783613,"Stroke, protection against, association with ?"
P55072/T262A "Disease mutation",allele=7415_9656,dbSNP=NULL,"IBMPFD ?"
P55072/A439S "Disease mutation",allele=7415_9658,dbSNP=NULL,"IBMPFD"
P11473/G33D "Disease mutation",allele=7421_18433,dbSNP=rs121909790,"Rickets, vitamin D resistant"
P11473/C190W "Disease mutation",allele=7421_18444,dbSNP=NULL,"Rickets, vitamin D resistant"
P11473/I268T "Disease mutation",allele=7421_18448,dbSNP=NULL,"Rickets, vitamin D resistant"
P11473/E329K "Disease mutation",allele=7421_18454,dbSNP=rs121909802,"Atrichia"
P40337/S38P "Disease mutation",allele=7428_22221,dbSNP=NULL,"Phaeochromocytoma"
P40337/S65W "Disease mutation",allele=7428_22229,dbSNP=NULL,"Von Hippel-Lindau syndrome"
P40337/S111I "Disease mutation",allele=7428_22297,dbSNP=NULL,"Pancreatic cancer"
P40337/L198R "Disease mutation",allele=7428_22370,dbSNP=NULL,"Von Hippel-Lindau syndrome"
Q9BQB6/V29L "Disease mutation",allele=79001_8564,dbSNP=rs28940302,"Warfarin resistance"
Q9BQB6/V45A "Disease mutation",allele=79001_8567,dbSNP=rs28940303,"Warfarin resistance"
Q9BQB6/R98W "Disease mutation",allele=79001_8572,dbSNP=rs72547528,"Vit. K-depend. clot. factors, deficiency, type 2"
Q9BQB6/L128R "Disease mutation",allele=79001_8573,dbSNP=rs28940305,"Warfarin resistance"
Q8NI36/L25P "Disease mutation",allele=134430_34606,dbSNP=rs145437203,"Glaucoma, primary open angle, association with ?"
Q8NI36/D33E "Disease mutation",allele=134430_34608,dbSNP=rs35629723,"Glaucoma, primary open angle"
Q8NI36/A353S "Disease mutation",allele=134430_34613,dbSNP=rs142687756,"Glaucoma, primary open angle"
Q8NI36/P487R "Disease mutation",allele=134430_34621,dbSNP=NULL,"Glaucoma, primary open angle"
O95389/C78R "Disease mutation",allele=8838_25104,dbSNP=rs121908902,"Pseudorheumatoid dysplasia, progressive"
O95389/C114Y "Disease mutation",allele=8838_25105,dbSNP=NULL,"Pseudorheumatoid dysplasia, progressive"
O95389/C145Y "Disease mutation",allele=8838_25106,dbSNP=rs121908899,"Pseudorheumatoid dysplasia, progressive"
O95389/S334P "Disease mutation",allele=8838_25108,dbSNP=rs121908903,"Spondyloepiphyseal dysplasia tarda and arthropathy"
P56705/L12P "Disease mutation",allele=54361_18397,dbSNP=rs121908653,"Primary amenorrhea with Mullerian Duct abnorm."
P56705/A114V "Disease mutation",allele=54361_18398,dbSNP=rs121908651,"SERKAL syndrome"
P56705/E216G "Disease mutation",allele=54361_18399,dbSNP=rs121908650,"Rokitansky-Kuster-Hauser syndrome"
O00755/A109T "Disease mutation",allele=7476_9199,dbSNP=rs104893832,"Ulnar and fibula absence, with severe limb deficiency"
O00755/G204S "Disease mutation",allele=7476_9200,dbSNP=NULL,"Ulnar and fibula absence, with severe limb deficiency"
O00755/R292C "Disease mutation",allele=7476_9201,dbSNP=rs104893835,"Fuhrmann syndrome"
Q9BUR4/R68G "Disease mutation",allele=55135_9894,dbSNP=rs2287499,"Breast cancer, ER negative, association with ?"
Q13426/I134T "Disease mutation",allele=7518_13709,dbSNP=rs28360135,"Lung cancer, susceptibility to, association with"
P54577/G41R "Disease mutation",allele=8565_2211,dbSNP=rs121908833,"Charcot-Marie-Tooth disease"
P54577/E196K "Disease mutation",allele=8565_2212,dbSNP=rs121908834,"Charcot-Marie-Tooth disease"
Q6PEW1/R7C "Disease mutation",allele=170261_18533,dbSNP=rs35356061,"Mental retardation ?"
Q6PEW1/T344I "Disease mutation",allele=170261_18534,dbSNP=NULL,"Mental retardation"
Q9Y397/R148W "Disease mutation",allele=51114_6216,dbSNP=rs137852214,"Mental retardation, X-linked"
Q9Y397/P150S "Disease mutation",allele=51114_6217,dbSNP=rs137852215,"Mental retardation, X-linked"
Q9NU63/R228H "Disease mutation",allele=346171_34736,dbSNP=rs77625743,"Hypomethylation of imprinted loci in transient neonatal diabetes"
Q9NU63/H257N "Disease mutation",allele=346171_34738,dbSNP=rs78378398,"Hypomethylation of imprinted loci in transient neonatal diabetes"
Q5T4F4/G191V "Disease mutation",allele=118813_2819,dbSNP=rs35077384,"Spastic paraplegia ?"
P17028/S220N "Disease mutation",allele=7572_6801,dbSNP=rs2032729,"Leukemia, risk, association with"
Q9GZX5/S472P "Disease mutation",allele=59348_10885,dbSNP=rs4986771,"Breast cancer ?"
Q9GZX5/R501S "Disease mutation",allele=59348_10886,dbSNP=rs2278415,"Bladder cancer, reduced risk, association with"
Q9GZX5/V524I "Disease mutation",allele=59348_10887,dbSNP=rs4988337,"Breast cancer ?"
P51814/P111L "Disease mutation",allele=7592_3854,dbSNP=rs104894955,"Mental retardation"
P51814/I125R "Non-disease variant",allele=7592_900185,dbSNP=rs17147624,"NULL"
P51814/C301R "Non-disease variant",allele=7592_900188,dbSNP=rs34391244,"NULL"
Q9P2J8/K135N "Disease mutation",allele=57547_24413,dbSNP=rs8065506,"Lung cancer, susceptibility to, association with"