ClinVar Miner

List of variants reported as benign for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4061
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HGVS dbSNP
NM_000029.3(AGT):c.*629C>T rs2067853
NM_000029.3(AGT):c.-255G>A rs5049
NM_000029.3(AGT):c.-44G>A rs5051
NM_000029.4(AGT):c.*556C>A rs7079
NM_000029.4(AGT):c.1116A>G (p.Leu372=) rs7080
NM_000029.4(AGT):c.1125-13A>G rs1926723
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000031.6(ALAD):c.*1950G>A rs818706
NM_000031.6(ALAD):c.*471C>T rs818708
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000035.4(ALDOB):c.*1151A>G rs491979
NM_000035.4(ALDOB):c.*69C>T rs4577
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000053.4(ATP7B):c.*1782C>G rs928169
NM_000053.4(ATP7B):c.-75C>A rs2277448
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) rs5203
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) rs5198
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) rs5196
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) rs2071126
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) rs5201
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) rs5202
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*369A>G rs7334543
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*839del rs75353978
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000063.6(C2):c.1902+6G>C rs9332730
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
NM_000064.4(C3):c.4457-4G>A rs2277984
NM_000064.4(C3):c.4631-8C>T rs11569565
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286
NM_000067.2(CA2):c.-181A>T rs11261477
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.132C>T (p.Arg44=) rs149717696
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[2] (p.163_166APVA[2]) rs565544512
NM_000076.2(CDKN1C):c.537_542CCCGGC[2] (p.179_180AP[7]) rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.555_560TCCGGC[2] (p.179_180AP[7]) rs878853632
NM_000076.2(CDKN1C):c.600A>G (p.Pro200=) rs529326848
NM_000076.2(CDKN1C):c.600_605del (p.197_198AP[9]) rs1060503860
NM_000076.2(CDKN1C):c.600_611del (p.197_198AP[8]) rs878853634
NM_000076.2(CDKN1C):c.600_611dup (p.197_198AP[12]) rs878853634
NM_000076.2(CDKN1C):c.600_617del (p.197_198AP[7]) rs878853636
NM_000076.2(CDKN1C):c.600_623del (p.197_198AP[6]) rs878853637
NM_000076.2(CDKN1C):c.606_611GGCCCC[2] (p.197_198AP[8]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[3] (p.197_198AP[9]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[5] (p.197_198AP[11]) rs759134767
NM_000076.2(CDKN1C):c.626_649del (p.197_198AP[6]) rs778468310
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
NM_000076.2(CDKN1C):c.72A>G (p.Leu24=) rs3852522
NM_000076.2(CDKN1C):c.735G>A (p.Gly245=) rs556682082
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.4(COL4A3):c.144+12C>A rs1882435
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.4(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.-2C>T rs2228558
NM_000092.4(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.4(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.4(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.4(COL4A4):c.3817+9G>C rs13423714
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.4(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.4(COL4A4):c.4523-8T>C rs13419076
NM_000092.4(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000097.7(CPOX):c.*162A>C rs1051712
NM_000097.7(CPOX):c.*329G>C rs72924727
NM_000097.7(CPOX):c.*475T>A rs72924726
NM_000097.7(CPOX):c.*578_*579insTTCTTA rs3840202
NM_000097.7(CPOX):c.*679G>A rs72924722
NM_000097.7(CPOX):c.*927G>A rs7103
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys) rs11921054
NM_000097.7(CPOX):c.33C>T (p.Gly11=) rs60690253
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.880G>A (p.Val294Ile) rs2228056
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3514-4A>G rs149388130
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361
NM_000135.4(FANCA):c.3935-9G>A rs9282680
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.1330-3C>T rs4647542
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189
NM_000137.3(FAH):c.1180+4A>G rs60585303
NM_000137.3(FAH):c.139A>G (p.Lys47Glu) rs34749737
NM_000137.3(FAH):c.165C>T (p.Leu55=) rs28733633
NM_000137.3(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000137.3(FAH):c.483C>T (p.Gly161=) rs116272698
NM_000137.3(FAH):c.82-13G>A rs1370275
NM_000137.3(FAH):c.855G>A (p.Pro285=) rs73481171
NM_000137.3(FAH):c.921A>G (p.Gly307=) rs76338717
NM_000140.4(FECH):c.*117C>T rs8099115
NM_000140.4(FECH):c.*1287_*1288insTA rs59569925
NM_000140.4(FECH):c.*1622T>C rs78359676
NM_000140.4(FECH):c.*2371T>G rs1062010
NM_000140.4(FECH):c.*2451T>G rs55769459
NM_000140.4(FECH):c.*2461dup rs529946604
NM_000140.4(FECH):c.*248C>T rs8339
NM_000140.4(FECH):c.*2526T>C rs2723680
NM_000140.4(FECH):c.*2739T>C rs111695226
NM_000140.4(FECH):c.*2825A>G rs8090261
NM_000140.4(FECH):c.*3377G>T rs480942
NM_000140.4(FECH):c.*3601A>G rs73453635
NM_000140.4(FECH):c.*4106A>G rs72940306
NM_000140.4(FECH):c.*422T>A rs3760612
NM_000140.4(FECH):c.*4463A>G rs7228449
NM_000140.4(FECH):c.*4563G>T rs663774
NM_000140.4(FECH):c.*481A>G rs3760613
NM_000140.4(FECH):c.*4886T>G rs7238897
NM_000140.4(FECH):c.*4891dup rs146687823
NM_000140.4(FECH):c.*4971A>G rs114530851
NM_000140.4(FECH):c.*5588G>A rs78224804
NM_000140.4(FECH):c.*5628C>A rs13732
NM_000140.4(FECH):c.*696C>T rs76175837
NM_000140.4(FECH):c.287G>A (p.Arg96Gln) rs1041951
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000151.4(G6PC):c.*1227dup rs397735497
NM_000151.4(G6PC):c.*1294C>A rs161620
NM_000151.4(G6PC):c.*1545_*1552TTTTAGAA[1] rs397717945
NM_000151.4(G6PC):c.*2088A>T rs9902963
NM_000151.4(G6PC):c.*2095T>A rs692180
NM_000151.4(G6PC):c.*23T>C rs2229611
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.957G>A (p.Glu319=) rs76160162
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.*203C>T rs75958979
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1059+36T>A rs111033820
NM_000155.4(GALT):c.117T>C (p.Asp39=) rs111033642
NM_000155.4(GALT):c.184C>A (p.Leu62Met) rs1800461
NM_000155.4(GALT):c.328+29G>C rs111033671
NM_000155.4(GALT):c.330A>T (p.Gly110=) rs111033672
NM_000155.4(GALT):c.33C>T (p.Arg11=) rs111033633
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.495C>T (p.Tyr165=) rs111033707
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-11C>A rs111033712
NM_000155.4(GALT):c.508-11C>G rs111033712
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.508-38T>C rs111033706
NM_000155.4(GALT):c.510C>T (p.Ile170=) rs61735984
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.564+32T>A rs111033733
NM_000155.4(GALT):c.583C>T (p.Leu195=) rs111033727
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.699C>A (p.Val233=) rs111033756
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.759A>N (p.Thr253=) rs1554709425
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+23T>G rs111033771
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.954G>A (p.Leu318=) rs111033789
NM_000155.4(GALT):c.972T>C (p.Pro324=) rs111033793
NM_000168.6(GLI3):c.*1296T>C rs77126593
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*2757C>T rs3823720
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.*428C>T rs2051935
NM_000168.6(GLI3):c.*741A>G rs114615136
NM_000168.6(GLI3):c.-42-11G>C rs80019165
NM_000168.6(GLI3):c.-94C>G rs112754065
NM_000168.6(GLI3):c.1029-7C>T rs78280303
NM_000168.6(GLI3):c.1356+11G>C rs846273
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000190.4(HMBS):c.-65C>T rs589925
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.88-14G>A rs17075
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000213.5(ITGB4):c.*25C>T rs9367
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669
NM_000213.5(ITGB4):c.5054-15A>G rs8078247
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443
NM_000214.3(JAG1):c.*1132T>G rs7828
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1572A>G rs8708
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.-385T>G rs1051412
NM_000214.3(JAG1):c.-433G>A rs73611723
NM_000214.3(JAG1):c.1120+10A>G rs201711717
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.439+10G>A rs201371037
NM_000214.3(JAG1):c.440-15T>C rs2273060
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000239.2(LYZ):c.*178C>T rs710794
NM_000239.2(LYZ):c.*655G>T rs8612
NM_000239.2(LYZ):c.*835C>T rs1384
NM_000239.2(LYZ):c.-1C>T rs513342
NM_000239.2(LYZ):c.263C>A (p.Thr88Asn) rs1800973
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.-614C>G rs11466012
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1260+10C>T rs104895137
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1503C>T (p.Arg501=) rs76464258
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1764= (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.1764A>G (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2163C>T (p.Phe721=) rs11466047
NM_000243.2(MEFV):c.297C>T (p.Asn99=) rs104895175
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1227C>G (p.Leu409=) rs577268289
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1314C>T (p.His438=) rs540012
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1449C>T (p.Gly483=) rs200280309
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.606C>G (p.Thr202=) rs527294715
NM_000244.3(MEN1):c.612C>T (p.His204=) rs150512958
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-6C>T rs77461664
NM_000244.3(MEN1):c.774G>A (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.928-42G>C rs529037188
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000254.2(MTR):c.1076-8C>T rs115186224
NM_000254.2(MTR):c.1437C>T (p.Asp479=) rs115424814
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000254.2(MTR):c.250-7G>A rs184332230
NM_000254.2(MTR):c.3474G>A (p.Leu1158=) rs142113735
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000254.2(MTR):c.3599-10C>A rs41530146
NM_000254.2(MTR):c.3665A>G (p.Asn1222Ser) rs61739582
NM_000254.2(MTR):c.858C>T (p.Pro286=) rs146019467
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1676+77A>C rs9381786
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000267.3(NF1):c.*2265C>G rs1800845
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*873_*874delAT rs369548314
NM_000267.3(NF1):c.1005T>C (p.Asn335=) rs777369021
NM_000267.3(NF1):c.1032A>G (p.Leu344=) rs199832006
NM_000267.3(NF1):c.1653T>A (p.Val551=) rs1060503902
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2178G>C (p.Val726=) rs369590240
NM_000267.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_000267.3(NF1):c.2252-31A>T rs141082540
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_000267.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_000267.3(NF1):c.3197+9dup rs755212937
NM_000267.3(NF1):c.3198-3dup rs1555614816
NM_000267.3(NF1):c.3198-4T>C rs587782218
NM_000267.3(NF1):c.3198-5_3198-4del rs371047262
NM_000267.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_000267.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4206A>G (p.Glu1402=) rs17886566
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5820G>A (p.Lys1940=) rs144808600
NM_000267.3(NF1):c.6084+8C>G rs182709912
NM_000267.3(NF1):c.6316A>G (p.Ile2106Val) rs200022550
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7127-5del rs769290414
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000267.3(NF1):c.7305A>G (p.Lys2435=) rs201287021
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7347T>C (p.Asn2449=) rs17881903
NM_000267.3(NF1):c.7398A>G (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.7521A>G (p.Gln2507=) rs55865524
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7978A>G (p.Ile2660Val) rs146315101
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8436T>C (p.Asn2812=) rs142636150
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.960T>A (p.Ala320=) rs376447070
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.1437+9G>A rs13414551
NM_000272.4(NPHP1):c.1438-4C>T rs151204566
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.438T>C (p.Asn146=) rs548684868
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000276.4(OCRL):c.324C>T (p.Leu108=) rs754424104
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000280.4(PAX6):c.766-12C>T rs667773
NM_000286.3(PEX12):c.*517A>G rs1046321
NM_000286.3(PEX12):c.*836G>C rs10068
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.-428T>C rs321600
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452
NM_000292.3(PHKA2):c.718-3C>T rs140662042
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000295.5(SERPINA1):c.*1221A>G rs11832
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.4(PKD2):c.1587A>T (p.Thr529=) rs375543446
NM_000297.4(PKD2):c.1617G>C (p.Leu539=) rs145297759
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.4(PKD2):c.2134T>C (p.Leu712=) rs73841280
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.2523-7C>T rs199528409
NM_000297.4(PKD2):c.290_292AGG[5] (p.Glu102del) rs750077647
NM_000297.4(PKD2):c.290_292AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000318.3(PEX2):c.*1194A>G rs4311633
NM_000318.3(PEX2):c.*2377A>G rs4388434
NM_000318.3(PEX2):c.*2663T>A rs28435921
NM_000318.3(PEX2):c.*727T>C rs4610720
NM_000318.3(PEX2):c.-164C>A rs12718
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000319.4(PEX5):c.*1134dup rs11448434
NM_000319.4(PEX5):c.*755C>G rs1057225
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563
NM_000339.3(SLC12A3):c.*1524C>T rs3812964
NM_000339.3(SLC12A3):c.*1851A>G rs37029
NM_000339.3(SLC12A3):c.*205A>G rs5805
NM_000339.3(SLC12A3):c.*404C>T rs37031
NM_000339.3(SLC12A3):c.*516T>A rs11861555
NM_000339.3(SLC12A3):c.*664G>C rs5808
NM_000339.3(SLC12A3):c.*931C>T rs37030
NM_000339.3(SLC12A3):c.1023C>T (p.Phe341=) rs2229209
NM_000339.3(SLC12A3):c.1395C>T (p.Thr465=) rs5801
NM_000339.3(SLC12A3):c.1670-8T>C rs2304483
NM_000339.3(SLC12A3):c.1825+9C>A rs35797045
NM_000339.3(SLC12A3):c.1884G>A (p.Ser628=) rs5802
NM_000339.3(SLC12A3):c.2142C>T (p.Ala714=) rs5803
NM_000339.3(SLC12A3):c.2179-8C>T rs13306676
NM_000339.3(SLC12A3):c.2625C>T (p.Gly875=) rs5804
NM_000339.3(SLC12A3):c.2738G>A (p.Arg913Gln) rs11643718
NM_000339.3(SLC12A3):c.2782C>T (p.Arg928Cys) rs12708965
NM_000339.3(SLC12A3):c.2951+13C>T rs2289115
NM_000339.3(SLC12A3):c.366A>G (p.Ala122=) rs2304479
NM_000340.2(SLC2A2):c.*1222T>A rs55989805
NM_000340.2(SLC2A2):c.*1257C>T rs55679742
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.496+8A>T rs5402
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.776-15C>T rs5406
NM_000341.4(SLC3A1):c.*131T>C rs8886
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*967del rs11326306
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1918G>A rs1962
NM_000361.2(THBD):c.*277G>A rs3176134
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
NM_000361.2(THBD):c.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000368.4(TSC1):c.*1275T>G rs2809244
NM_000368.4(TSC1):c.*1322C>T rs2809243
NM_000368.4(TSC1):c.*1372T>G rs58612431
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*1488C>T rs739442
NM_000368.4(TSC1):c.*1507G>A rs739441
NM_000368.4(TSC1):c.*1934A>G rs10491534
NM_000368.4(TSC1):c.*2558A>G rs115516164
NM_000368.4(TSC1):c.*289del rs11323835
NM_000368.4(TSC1):c.*3679G>A rs1050700
NM_000368.4(TSC1):c.*376C>T rs114064768
NM_000368.4(TSC1):c.*4437G>A rs11553763
NM_000368.4(TSC1):c.*4763T>C rs79470094
NM_000368.4(TSC1):c.*4898G>A rs79220715
NM_000368.4(TSC1):c.*682C>T rs75252898
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1020A>G (p.Glu340=) rs760233114
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1219G>A (p.Val407Met) rs769331772
NM_000368.4(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.4(TSC1):c.1264-9T>C rs1399728684
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1273A>G (p.Met425Val) rs753199284
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1438+6G>A rs118203530
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1506C>T (p.Gly502=) rs772337076
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1585G>A (p.Ala529Thr) rs751125011
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1808C>T (p.Pro603Leu) rs751247705
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2034C>T (p.His678=) rs201392975
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2424G>A (p.Ala808=) rs200651872
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2478G>C (p.Leu826=) rs149719514
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2626-21_2626-20dup rs5901000
NM_000368.4(TSC1):c.2626-21dup rs5901000
NM_000368.4(TSC1):c.2626-3_2626-2insTT rs760737807
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
NM_000368.4(TSC1):c.2653C>T (p.Arg885Trp) rs118203723
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2700G>A (p.Gln900=) rs560986491
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112_3114AGC[5] (p.Ser1043del) rs2234980
NM_000368.4(TSC1):c.3112_3114AGC[7] (p.Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3129C>T (p.Ser1043=) rs201192125
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3194C>T (p.Thr1065Met) rs753388676
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3356C>T (p.Thr1119Ile) rs775420987
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3402C>T (p.Asn1134=) rs769266225
NM_000368.4(TSC1):c.3405A>G (p.Leu1135=) rs568004490
NM_000368.4(TSC1):c.3414T>C (p.Pro1138=) rs745475737
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.625A>G (p.Met209Val) rs754980229
NM_000368.4(TSC1):c.69C>T (p.Asp23=) rs769282604
NM_000368.4(TSC1):c.734G>A (p.Arg245Gln) rs755859330
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.915G>A (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000369.2(TSHR):c.1637G>A (p.Trp546Ter) rs121908866
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000379.4(XDH):c.*1477A>G rs6710015
NM_000379.4(XDH):c.*1516C>T rs1054889
NM_000379.4(XDH):c.*1555G>T rs6752058
NM_000379.4(XDH):c.*518A>G rs1042039
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725
NM_000379.4(XDH):c.3052-12C>G rs13415401
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372
NM_000383.4(AIRE):c.1083C>T (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1096-9G>C rs113512196
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072
NM_000383.4(AIRE):c.1207G>A (p.Ala403Thr) rs543891914
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1404G>C (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.1483C>T (p.Leu495=) rs376909088
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.348G>A (p.Pro116=) rs74162060
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000383.4(AIRE):c.548C>A (p.Thr183Asn) rs34219046
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.717C>T (p.Ser239=) rs149130190
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000458.4(HNF1B):c.*100= rs1555818000
NM_000458.4(HNF1B):c.*274= rs2689
NM_000458.4(HNF1B):c.*384A>G rs1058166
NM_000458.4(HNF1B):c.*444= rs2688
NM_000458.4(HNF1B):c.*47T>G rs8068014
NM_000458.4(HNF1B):c.*777G>A rs17138512
NM_000458.4(HNF1B):c.*924C>G rs10962
NM_000458.4(HNF1B):c.*99C>A rs2229295
NM_000458.4(HNF1B):c.1654-22= rs3110641
NM_000458.4(HNF1B):c.345-19C>T rs59527848
NM_000466.2(PEX1):c.-137T>C rs12386601
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000485.3(APRT):c.*178A>G rs4695
NM_000485.3(APRT):c.297C>T (p.Ala99=) rs281860262
NM_000486.5(AQP2):c.*1562T>C rs296766
NM_000486.5(AQP2):c.*1684T>C rs10875989
NM_000486.5(AQP2):c.*1757A>G rs74091162
NM_000486.5(AQP2):c.*2292_*2295delCTCT rs72283122
NM_000486.5(AQP2):c.*2495A>G rs296768
NM_000486.5(AQP2):c.*2725A>C rs1077520
NM_000486.5(AQP2):c.*3002G>C rs2878771
NM_000486.5(AQP2):c.*3168T>C rs2878772
NM_000486.5(AQP2):c.*374C>T rs467323
NM_000486.5(AQP2):c.360+3G>A rs3741559
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1393-42G>A rs34906874
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1680-870T>A rs213965
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3718-2530A>G rs213990
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000495.5(COL4A5):c.1033-15del rs104886089
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1191C>G (p.Gly397=) rs104886106
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_000495.5(COL4A5):c.3255T>A (p.Pro1085=) rs104886230
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.3582C>T (p.Pro1194=) rs104886243
NM_000495.5(COL4A5):c.4239C>T (p.Leu1413=) rs104886271
NM_000495.5(COL4A5):c.4275C>T (p.Asp1425=) rs61746140
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.609+21T>C rs6622333
NM_000495.5(COL4A5):c.970C>T (p.Pro324Ser) rs104886087
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000498.3(CYP11B2):c.*1178T>C rs3802228
NM_000498.3(CYP11B2):c.*239T>C rs9297975
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*532G>T rs3802230
NM_000498.3(CYP11B2):c.*537C>T rs72499120
NM_000498.3(CYP11B2):c.*735G>A rs28491316
NM_000498.3(CYP11B2):c.*744G>A rs28390200
NM_000498.3(CYP11B2):c.*81G>A rs3097
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.17_19TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000503.6(EYA1):c.*1324T>C rs56115941
NM_000503.6(EYA1):c.*1581G>A rs9298163
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.*800T>C rs74862574
NM_000503.6(EYA1):c.-271G>A rs73684755
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000512.5(GALNS):c.*367T>C rs1141390
NM_000512.5(GALNS):c.*36G>A rs11076715
NM_000512.5(GALNS):c.*611A>G rs1135364
NM_000512.5(GALNS):c.*652A>G rs1135366
NM_000512.5(GALNS):c.*701C>G rs77936719
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+81C>T rs7946748
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_000537.4(REN):c.204A>C (p.Thr68=) rs5705
NM_000537.4(REN):c.649G>A (p.Gly217Arg) rs11571117
NM_000546.5(TP53):c.*773C>T rs200378797
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.141G>A (p.Pro47=) rs201741778
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.560-8G>C rs373797299
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.673-36G>C rs17880604
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898
NM_000548.5(TSC2):c.1066G>C (p.Val356Leu) rs587778728
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1119+6G>C rs397515305
NM_000548.5(TSC2):c.1131C>T (p.Ser377=) rs201525586
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154
NM_000548.5(TSC2):c.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1150G>A (p.Val384Ile) rs397514881
NM_000548.5(TSC2):c.1170G>A (p.Thr390=) rs376144933
NM_000548.5(TSC2):c.1194C>T (p.Asn398=) rs369172347
NM_000548.5(TSC2):c.1203C>T (p.His401=) rs199665674
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223
NM_000548.5(TSC2):c.1245G>A (p.Ala415=) rs757325185
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162
NM_000548.5(TSC2):c.1308G>A (p.Pro436=) rs753764275
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1332C>T (p.Asn444=) rs535984356
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.5(TSC2):c.1362-10C>T rs45446697
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.139-6C>T rs778516569
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1491C>T (p.Pro497=) rs781367910
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1577G>C (p.Ser526Thr) rs376573446
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180
NM_000548.5(TSC2):c.1599+10G>A rs376692777
NM_000548.5(TSC2):c.1599+9C>T rs776274603
NM_000548.5(TSC2):c.1600-10C>T rs768188836
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684
NM_000548.5(TSC2):c.1626C>A (p.Pro542=) rs376234285
NM_000548.5(TSC2):c.1628C>T (p.Pro543Leu) rs45517188
NM_000548.5(TSC2):c.1642A>C (p.Arg548=) rs565375272
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895
NM_000548.5(TSC2):c.1731C>T (p.Thr577=) rs144122318
NM_000548.5(TSC2):c.1735C>G (p.Pro579Ala) rs45517196
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1752G>A (p.Thr584=) rs141285742
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
NM_000548.5(TSC2):c.1865G>A (p.Arg622Gln) rs45517206
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1885C>T (p.Leu629=) rs570409651
NM_000548.5(TSC2):c.1911C>T (p.Val637=) rs543584836
NM_000548.5(TSC2):c.1932C>T (p.Cys644=) rs777665839
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.1946+6C>T rs754069880
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-3C>T rs201106259
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288
NM_000548.5(TSC2):c.2018C>T (p.Ala673Val) rs745897413
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2034C>T (p.Ala678=) rs781740263
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.20A>G (p.Lys7Arg) rs137854215
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640
NM_000548.5(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2348C>T (p.Thr783Ile) rs562945619
NM_000548.5(TSC2):c.2392C>T (p.His798Tyr) rs375809212
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly) rs200929621
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.2546-5C>T rs45517247
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2583C>T (p.Ala861=) rs144924053
NM_000548.5(TSC2):c.258G>A (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2622G>A (p.Pro874=) rs141486629
NM_000548.5(TSC2):c.262C>T (p.Leu88=) rs45485999
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.270G>A (p.Gln90=) rs779310889
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2742+4G>A rs587781683
NM_000548.5(TSC2):c.2743-3C>A rs45517264
NM_000548.5(TSC2):c.2743-7C>G rs566118686
NM_000548.5(TSC2):c.2743-9C>T rs397515319
NM_000548.5(TSC2):c.2750G>A (p.Arg917Gln) rs397515046
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2760C>T (p.Val920=) rs149490538
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2873A>G (p.Asn958Ser) rs397515104
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2926C>T (p.Arg976Trp) rs769527912
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2961C>G (p.Val987=) rs775637322
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro) rs397515306
NM_000548.5(TSC2):c.2967-6C>T rs200746335
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met) rs137854410
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3036C>T (p.Asp1012=) rs144997264
NM_000548.5(TSC2):c.3099C>T (p.Tyr1033=) rs45464800
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331
NM_000548.5(TSC2):c.3295G>A (p.Gly1099Arg) rs776855601
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711
NM_000548.5(TSC2):c.3377A>T (p.Asp1126Val) rs397514945
NM_000548.5(TSC2):c.3413G>A (p.Arg1138Gln) rs143168379
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3434C>T (p.Pro1145Leu) rs397515162
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=) rs147242130
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3482C>T (p.Ala1161Val) rs397514901
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3520C>T (p.Arg1174Trp) rs529298825
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554
NM_000548.5(TSC2):c.3552G>A (p.Ala1184=) rs549427685
NM_000548.5(TSC2):c.3555C>T (p.Ala1185=) rs745762286
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084
NM_000548.5(TSC2):c.3585G>A (p.Ala1195=) rs761232933
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3610+9C>T rs45467194
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3611-4G>A rs368926908
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106
NM_000548.5(TSC2):c.3681C>A (p.Pro1227=) rs181279399
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3747G>A (p.Leu1249=) rs199593904
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.5(TSC2):c.3793C>T (p.Pro1265Ser) rs45517311
NM_000548.5(TSC2):c.3803G>A (p.Arg1268His) rs200577441
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.5(TSC2):c.3832C>T (p.Leu1278=) rs374146919
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184
NM_000548.5(TSC2):c.3883+11_3883+12del rs878854096
NM_000548.5(TSC2):c.3883+6G>A rs757751865
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3888C>T (p.Ser1296=) rs141252704
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3891C>T (p.Ala1297=) rs373508609
NM_000548.5(TSC2):c.3892G>A (p.Val1298Met) rs147284943
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481
NM_000548.5(TSC2):c.3957C>T (p.Asp1319=) rs757244510
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.3990G>A (p.Thr1330=) rs369943684
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4023C>A (p.Ser1341Arg) rs45462593
NM_000548.5(TSC2):c.4027_4029GAG[1] (p.Glu1344del) rs878854100
NM_000548.5(TSC2):c.4038G>A (p.Ser1346=) rs756763596
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.5(TSC2):c.4047G>A (p.Ala1349=) rs45468491
NM_000548.5(TSC2):c.4086C>T (p.Val1362=) rs763847509
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510
NM_000548.5(TSC2):c.4095G>A (p.Ser1365=) rs139630605
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738
NM_000548.5(TSC2):c.4107G>A (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.4107G>C (p.Arg1369=) rs201688447
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4219G>A (p.Val1407Met) rs45517332
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4272C>T (p.Asp1424=) rs371541319
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) rs763497329
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4298C>T (p.Ser1433Leu) rs45517335
NM_000548.5(TSC2):c.4299G>A (p.Ser1433=) rs749358180
NM_000548.5(TSC2):c.4302C>T (p.Gly1434=) rs137854000
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.5(TSC2):c.4356G>A (p.Ser1452=) rs779122170
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.5(TSC2):c.4458C>T (p.Ala1486=) rs761248238
NM_000548.5(TSC2):c.4469A>G (p.Glu1490Gly) rs759882146
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4497C>T (p.Phe1499=) rs372974007
NM_000548.5(TSC2):c.4510C>T (p.Leu1504Phe) rs747613240
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4558C>T (p.Leu1520=) rs374687688
NM_000548.5(TSC2):c.4565A>G (p.Asn1522Ser) rs144062721
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391
NM_000548.5(TSC2):c.4602C>T (p.Leu1534=) rs368534883
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=) rs201038907
NM_000548.5(TSC2):c.4620C>T (p.Tyr1540=) rs45455897
NM_000548.5(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.5(TSC2):c.465C>T (p.Tyr155=) rs45444196
NM_000548.5(TSC2):c.4662+10C>T rs371195832
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857
NM_000548.5(TSC2):c.4716G>C (p.Thr1572=) rs369346726
NM_000548.5(TSC2):c.4719G>A (p.Glu1573=) rs766665967
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.5(TSC2):c.481+8C>T rs758228838
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4849+4C>T rs370426490
NM_000548.5(TSC2):c.4851C>T (p.Ala1617=) rs556045045
NM_000548.5(TSC2):c.4852G>A (p.Val1618Ile) rs377129517
NM_000548.5(TSC2):c.4869C>T (p.Thr1623=) rs150239180
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152
NM_000548.5(TSC2):c.4905C>T (p.Cys1635=) rs397514999
NM_000548.5(TSC2):c.4906G>A (p.Asp1636Asn) rs45482398
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4929C>T (p.Asn1643=) rs45517381
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.4990-7C>T rs45457095
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000548.5(TSC2):c.5016C>T (p.Ile1672=) rs370770569
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993
NM_000548.5(TSC2):c.5017G>C (p.Val1673Leu) rs45490993
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5034C>T (p.Tyr1678=) rs45467993
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5068+8C>T rs747827911
NM_000548.5(TSC2):c.5068+9G>A rs45445593
NM_000548.5(TSC2):c.5069-8C>T rs796053478
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5094C>T (p.Ser1698=) rs45514196
NM_000548.5(TSC2):c.5097G>C (p.Val1699=) rs397515314
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5106C>T (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409
NM_000548.5(TSC2):c.5199C>T (p.Thr1733=) rs778378296
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5244G>A (p.Lys1748=) rs150038278
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) rs141449031
NM_000548.5(TSC2):c.5275G>A (p.Ala1759Thr) rs758450326
NM_000548.5(TSC2):c.5276C>T (p.Ala1759Val) rs45477298
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811
NM_000548.5(TSC2):c.5292C>T (p.Ser1764=) rs769507440
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064
NM_000548.5(TSC2):c.5312C>T (p.Pro1771Leu) rs137854214
NM_000548.5(TSC2):c.5313G>A (p.Pro1771=) rs765607686
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5334A>G (p.Ala1778=) rs371580877
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_000548.5(TSC2):c.5346C>T (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5357C>G (p.Pro1786Arg) rs770117004
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.5412C>T (p.Thr1804=) rs397515252
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.552C>T (p.Val184=) rs199991910
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.648+9C>T rs756588732
NM_000548.5(TSC2):c.657G>A (p.Leu219=) rs768570301
NM_000548.5(TSC2):c.669C>T (p.Asp223=) rs35501344
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205
NM_000548.5(TSC2):c.696G>A (p.Pro232=) rs539797467
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.716T>G (p.Phe239Cys) rs778544723
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828
NM_000548.5(TSC2):c.726C>T (p.Thr242=) rs570051626
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125
NM_000548.5(TSC2):c.760G>A (p.Glu254Lys) rs45517126
NM_000548.5(TSC2):c.768C>T (p.Cys256=) rs45517127
NM_000548.5(TSC2):c.775-4G>A rs754957491
NM_000548.5(TSC2):c.781C>T (p.Arg261Trp) rs45517130
NM_000548.5(TSC2):c.814G>A (p.Ala272Thr) rs373818076
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788
NM_000548.5(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.5(TSC2):c.975+8G>A rs137853984
NM_000548.5(TSC2):c.976-10C>T rs765990217
NM_000548.5(TSC2):c.989C>T (p.Pro330Leu) rs140910086
NM_000548.5(TSC2):c.990G>A (p.Pro330=) rs752141469
NM_000551.3(VHL):c.*1023G>A rs1681669
NM_000551.3(VHL):c.*1060C>T rs1681668
NM_000551.3(VHL):c.*1860A>G rs458106
NM_000551.3(VHL):c.*1973_*1979del rs149248243
NM_000551.3(VHL):c.*2034T>G rs1136249
NM_000551.3(VHL):c.*2140C>T rs140614750
NM_000551.3(VHL):c.*2548G>A rs187719061
NM_000551.3(VHL):c.*2600T>A rs142728549
NM_000551.3(VHL):c.*294G>A rs1642742
NM_000551.3(VHL):c.*2975G>C rs801913
NM_000551.3(VHL):c.*3482dup rs148013887
NM_000551.3(VHL):c.*3644_*3645insG rs201632485
NM_000551.3(VHL):c.-195G>A rs779805
NM_000551.3(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.183C>T (p.Pro61=) rs63650860
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241
NM_000784.3(CYP27A1):c.-357dupC rs397795841
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000789.4(ACE):c.*728_*729CT[3] rs4366
NM_000789.4(ACE):c.*910A>G rs1055086
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331
NM_000789.4(ACE):c.2306-11A>C rs4342
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362
NM_000789.4(ACE):c.3692-6G>A rs4363
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298
NM_000890.5(KCNJ5):c.*1063G>A rs2846696
NM_000890.5(KCNJ5):c.*1168C>G rs1137937
NM_000890.5(KCNJ5):c.*1338C>A rs6590358
NM_000890.5(KCNJ5):c.*1338del rs144472942
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*410C>T rs2846675
NM_000890.5(KCNJ5):c.*528C>T rs3867250
NM_000890.5(KCNJ5):c.*779G>T rs4373934
NM_000890.5(KCNJ5):c.*804G>T rs2604204
NM_000890.5(KCNJ5):c.*861_*865GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.*928C>T rs7925056
NM_000890.5(KCNJ5):c.*976G>A rs7102315
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584
NM_000890.5(KCNJ5):c.937+7C>T rs45516097
NM_000890.5(KCNJ5):c.938-10G>A rs4937391
NM_000901.5(NR3C2):c.*1032G>A rs61763141
NM_000901.5(NR3C2):c.*1410A>G rs5534
NM_000901.5(NR3C2):c.*2471G>A rs2871
NM_000901.5(NR3C2):c.-2C>G rs2070951
NM_000901.5(NR3C2):c.1497T>C (p.Asp499=) rs5525
NM_000901.5(NR3C2):c.1713T>C (p.Ser571=) rs5529
NM_000901.5(NR3C2):c.538G>A (p.Val180Ile) rs5522
NM_001001329.2(PRKCSH):c.-336G>A rs17426435
NM_001001433.3(STX16):c.*1581G>C rs73302110
NM_001001433.3(STX16):c.*1785A>G rs6128397
NM_001001433.3(STX16):c.*183G>T rs1052642
NM_001001433.3(STX16):c.*1928C>T rs11578
NM_001001433.3(STX16):c.*2057G>A rs7683
NM_001001433.3(STX16):c.*2060T>C rs115404291
NM_001001433.3(STX16):c.*2365A>T rs189786439
NM_001001433.3(STX16):c.*3175_*3176del rs35295928
NM_001001433.3(STX16):c.*70G>A rs114597931
NM_001001433.3(STX16):c.-350C>A rs41296205
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001002295.2(GATA3):c.*1066C>T rs11255509
NM_001002295.2(GATA3):c.*517A>G rs9746
NM_001002295.2(GATA3):c.*612G>A rs1058240
NM_001002295.2(GATA3):c.*93C>T rs2229360
NM_001002295.2(GATA3):c.-251G>A rs10905277
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.-58C>T rs412359
NM_001002295.2(GATA3):c.-60C>T rs11567887
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359
NM_001006657.2(WDR35):c.*231C>A rs1056233
NM_001006657.2(WDR35):c.*523G>A rs957614
NM_001006657.2(WDR35):c.1788C>T (p.Val596=) rs146130105
NM_001006657.2(WDR35):c.2182A>G (p.Ile728Val) rs144493712
NM_001006657.2(WDR35):c.2529A>G (p.Glu843=) rs6741091
NM_001006657.2(WDR35):c.2599G>T (p.Val867Phe) rs149667250
NM_001006657.2(WDR35):c.2857-14G>T rs1191779
NM_001006657.2(WDR35):c.2948A>G (p.Glu983Gly) rs1191778
NM_001006657.2(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.873+13G>A rs760941
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018
NM_001018113.3(FANCB):c.2165+10A>T rs184385334
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949
NM_001018115.2(FANCD2):c.4281+172G>A rs7626117
NM_001018115.2(FANCD2):c.4281+197A>G rs7647987
NM_001018115.2(FANCD2):c.4281+566T>G rs3826
NM_001018115.2(FANCD2):c.4281+673G>A rs9862958
NM_001018115.2(FANCD2):c.4281+685C>T rs11716842
NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys) rs11920543
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_001023570.4(IQCB1):c.394-15_394-10dup rs768572151
NM_001023570.4(IQCB1):c.424T>C (p.Phe142Leu) rs11926958
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876
NM_001031681.2(CTNS):c.*1075A>G rs161398
NM_001031681.2(CTNS):c.*1592del rs397856854
NM_001031681.2(CTNS):c.*1941T>C rs161397
NM_001031681.2(CTNS):c.*2018dup rs397702352
NM_001031681.2(CTNS):c.*372T>A rs222754
NM_001031681.2(CTNS):c.*373T>G rs224562
NM_001031681.2(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_001031681.2(CTNS):c.1138C>G (p.Pro380Ala) rs2873624
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001031681.2(CTNS):c.779C>T (p.Thr260Ile) rs161400
NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617
NM_001038.6(SCNN1A):c.-93A>G rs10849447
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576
NM_001039.4(SCNN1G):c.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
NM_001039.4(SCNN1G):c.*154G>T rs571729989
NM_001039.4(SCNN1G):c.*159T>G rs3026
NM_001039.4(SCNN1G):c.*236C>T rs5726
NM_001039.4(SCNN1G):c.*268G>A rs5727
NM_001039.4(SCNN1G):c.*572A>G rs5728
NM_001039.4(SCNN1G):c.*606T>A rs5729
NM_001039.4(SCNN1G):c.*659T>C rs9922851
NM_001039.4(SCNN1G):c.*675A>G rs5730
NM_001039.4(SCNN1G):c.*789T>C rs9923016
NM_001039.4(SCNN1G):c.*790C>T rs9932505
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737
NM_001042413.2(GLIS3):c.*1152T>G rs1331260
NM_001042413.2(GLIS3):c.*1197G>C rs10973690
NM_001042413.2(GLIS3):c.*1562A>C rs12376878
NM_001042413.2(GLIS3):c.*1800_*1801insC rs34028765
NM_001042413.2(GLIS3):c.*2191G>A rs3739618
NM_001042413.2(GLIS3):c.*2460C>T rs1053277
NM_001042413.2(GLIS3):c.*2732G>A rs1053280
NM_001042413.2(GLIS3):c.*3336A>T rs1455174
NM_001042413.2(GLIS3):c.*3336_*3337del rs66766243
NM_001042413.2(GLIS3):c.*448G>A rs734752
NM_001042413.2(GLIS3):c.*664dup rs5896025
NM_001042413.2(GLIS3):c.*712C>T rs912257
NM_001042413.2(GLIS3):c.-131G>A rs7852293
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788
NM_001072.4(UGT1A6):c.*211T>C rs10929303
NM_001072.4(UGT1A6):c.*339G>C rs1042640
NM_001072.4(UGT1A6):c.*440G>C rs8330
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.3584+7G>A rs374345970
NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) rs129974
NM_001079846.1(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) rs181646656
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
NM_001079846.1(CREBBP):c.6597C>T (p.Pro2199=) rs3751845
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001098484.3(SLC4A4):c.*175del rs138389345
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218
NM_001098484.3(SLC4A4):c.*77A>C rs1062677
NM_001098484.3(SLC4A4):c.*938G>C rs1062679
NM_001113378.1(FANCI):c.1114G>A (p.Val372Ile) rs76788798
NM_001113378.1(FANCI):c.1179T>C (p.Tyr393=) rs3743377
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.1699-7C>A rs28446881
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2056C>A (p.Gln686Lys) rs28378332
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2547A>G (p.Lys849=) rs7183618
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2817G>T (p.Lys939Asn) rs145192583
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.286G>A (p.Glu96Lys) rs149243307
NM_001113378.1(FANCI):c.2883A>G (p.Gln961=) rs11556721
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3103C>T (p.Leu1035=) rs34462132
NM_001113378.1(FANCI):c.3255+6dup rs878854178
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001113378.1(FANCI):c.3592-8T>C rs185599057
NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=) rs116380142
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.3865A>G (p.Ile1289Val) rs114549781
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001127500.3(MET):c.*1028A>G rs41738
NM_001127500.3(MET):c.*1326A>G rs41739
NM_001127500.3(MET):c.*1428G>A rs1621
NM_001127500.3(MET):c.*216C>A rs149188493
NM_001127500.3(MET):c.*2240G>A rs6566
NM_001127500.3(MET):c.*684G>A rs12540703
NM_001127500.3(MET):c.1085T>C (p.Met362Thr) rs77523018
NM_001127500.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.1131C>T (p.Ile377=) rs28444388
NM_001127500.3(MET):c.1191C>T (p.Cys397=) rs35763409
NM_001127500.3(MET):c.1263C>T (p.Thr421=) rs45499391
NM_001127500.3(MET):c.143C>T (p.Ala48Val) rs80256822
NM_001127500.3(MET):c.144G>A (p.Ala48=) rs11762213
NM_001127500.3(MET):c.1701+7A>T rs749081367
NM_001127500.3(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_001127500.3(MET):c.1932C>T (p.His644=) rs45520237
NM_001127500.3(MET):c.1944A>G (p.Gln648=) rs13223756
NM_001127500.3(MET):c.2638-7del rs587780736
NM_001127500.3(MET):c.2638-9T>C rs74994656
NM_001127500.3(MET):c.2712C>T (p.His904=) rs748950533
NM_001127500.3(MET):c.2716C>T (p.His906Tyr) rs115574135
NM_001127500.3(MET):c.2769C>T (p.Ser923=) rs45572835
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3481C>T (p.Leu1161=) rs774334135
NM_001127500.3(MET):c.3576T>C (p.His1192=) rs146651797
NM_001127500.3(MET):c.3603C>T (p.Gly1201=) rs371165052
NM_001127500.3(MET):c.3864C>T (p.Gly1288=) rs200865810
NM_001127500.3(MET):c.390C>T (p.Leu130=) rs150588908
NM_001127500.3(MET):c.3912C>T (p.Asp1304=) rs41736
NM_001127500.3(MET):c.4071G>A (p.Ala1357=) rs2023748
NM_001127500.3(MET):c.4141G>A (p.Ala1381Thr) rs45578433
NM_001127500.3(MET):c.4146G>A (p.Pro1382=) rs41737
NM_001127500.3(MET):c.4159T>C (p.Leu1387=) rs45575438
NM_001127500.3(MET):c.468G>A (p.Ser156=) rs576502224
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.534C>T (p.Ser178=) rs35775721
NM_001127500.3(MET):c.654G>A (p.Arg218=) rs35284565
NM_001127500.3(MET):c.690G>A (p.Thr230=) rs200138253
NM_001127500.3(MET):c.789G>A (p.Thr263=) rs554190225
NM_001127500.3(MET):c.798G>A (p.Arg266=) rs185301166
NM_001127500.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_001127500.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212
NM_001127898.4(CLCN5):c.*2860T>C rs140913229
NM_001127898.4(CLCN5):c.*3255C>T rs112868450
NM_001127898.4(CLCN5):c.*3409A>G rs59126550
NM_001127898.4(CLCN5):c.*3652T>C rs56657044
NM_001127898.4(CLCN5):c.*4192C>T rs148902882
NM_001127898.4(CLCN5):c.*5144C>T rs111560086
NM_001127898.4(CLCN5):c.*5956T>C rs932286
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840
NM_001127898.4(CLCN5):c.1558-14G>C rs7063765
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=) rs34173954
NM_001127898.4(CLCN5):c.416-6A>T rs6651602
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001128929.3(ROBO2):c.*1114G>A rs11127602
NM_001128929.3(ROBO2):c.*1216C>T rs1031377
NM_001128929.3(ROBO2):c.*2196G>A rs117129934
NM_001128929.3(ROBO2):c.*2737G>A rs1163748
NM_001128929.3(ROBO2):c.*3001A>G rs114795420
NM_001128929.3(ROBO2):c.*3236G>A rs1163750
NM_001128929.3(ROBO2):c.*3923C>T rs10865561
NM_001128929.3(ROBO2):c.110-14G>T rs61731268
NM_001128929.3(ROBO2):c.110-57466T>G rs3923744
NM_001128929.3(ROBO2):c.110-57632G>C rs79942150
NM_001128929.3(ROBO2):c.110-57770T>C rs3923745
NM_001128929.3(ROBO2):c.142C>A (p.Arg48=) rs6788280
NM_001128929.3(ROBO2):c.19C>A (p.Arg7Ser) rs12171318
NM_001128929.3(ROBO2):c.3602+13del rs78824327
NM_001128929.3(ROBO2):c.73G>A (p.Val25Met) rs78834776
NM_001131025.1(PEX5):c.-486C>G rs12227917
NM_001145901.2(SARS2):c.-12T>C rs730078
NM_001145901.2(SARS2):c.1166+4T>C rs7508411
NM_001162426.2(TSC1):c.2623-21_2623-19dup rs5901000
NM_001162426.2(TSC1):c.2623-4del rs5901000
NM_001162426.2(TSC1):c.2623-6_2623-4del rs5901000
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_001164277.1(SLC37A4):c.*125G>C rs8301
NM_001164277.1(SLC37A4):c.*418T>C rs11006
NM_001164277.1(SLC37A4):c.-420G>C rs2846281
NM_001164277.1(SLC37A4):c.-516G>A rs3759012
NM_001164277.1(SLC37A4):c.-755T>A rs1784559
NM_001164277.1(SLC37A4):c.1062C>T (p.Asn354=) rs61730035
NM_001164277.1(SLC37A4):c.1067G>C (p.Ser356Thr) rs547488738
NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001164277.1(SLC37A4):c.1278G>A (p.Lys426=) rs34871377
NM_001164277.1(SLC37A4):c.183T>C (p.Ala61=) rs34123220
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001164617.2(GPC3):c.204G>A (p.Lys68=) rs61754632
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001171.5(ABCC6):c.*17G>A rs3902401
NM_001171.5(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.5(ABCC6):c.1245G>A (p.Val415=) rs9940825
NM_001171.5(ABCC6):c.1338+20C>G rs12929920
NM_001171.5(ABCC6):c.1338+7C>G rs9940089
NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala) rs12931472
NM_001171.5(ABCC6):c.1890C>G (p.Thr630=) rs8058696
NM_001171.5(ABCC6):c.1896C>A (p.His632Gln) rs8058694
NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789
NM_001171.5(ABCC6):c.2175A>T (p.Val725=) rs59757815
NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val) rs59593133
NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) rs9924755
NM_001171.5(ABCC6):c.2835C>T (p.Pro945=) rs2856585
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.345+26C>T rs56019914
NM_001171.5(ABCC6):c.3507-16T>C rs3213471
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4208+9G>A rs58760581
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_001199397.2(NEK1):c.1068G>A (p.Arg356=) rs17055010
NM_001199397.2(NEK1):c.1081-15dup rs398124255
NM_001199397.2(NEK1):c.1146T>C (p.Ile382=) rs56064008
NM_001199397.2(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_001199397.2(NEK1):c.1581T>C (p.Ala527=) rs184804243
NM_001199397.2(NEK1):c.1830A>G (p.Glu610=) rs17544885
NM_001199397.2(NEK1):c.2235T>G (p.Asn745Lys) rs34324114
NM_001199397.2(NEK1):c.2255A>G (p.Glu752Gly) rs34099167
NM_001199397.2(NEK1):c.2731C>G (p.Gln911Glu) rs6828134
NM_001199397.2(NEK1):c.2765-20G>A rs7680152
NM_001199397.2(NEK1):c.3033G>A (p.Pro1011=) rs7655924
NM_001199397.2(NEK1):c.3285C>T (p.Pro1095=) rs140408058
NM_001199397.2(NEK1):c.607-3T>C rs55679731
NM_001199397.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_001271620.2(ZNF423):c.108C>T (p.Asp36=) rs117266679
NM_001271620.2(ZNF423):c.1122G>A (p.Ala374=) rs16947743
NM_001271620.2(ZNF423):c.1356C>T (p.Asp452=) rs149371639
NM_001271620.2(ZNF423):c.1365T>C (p.Asn455=) rs13336762
NM_001271620.2(ZNF423):c.1665G>A (p.Pro555=) rs16947741
NM_001271620.2(ZNF423):c.1706A>G (p.Asn569Ser) rs34214571
NM_001271620.2(ZNF423):c.1782C>T (p.His594=) rs75294107
NM_001271620.2(ZNF423):c.1809G>A (p.Ala603=) rs143468235
NM_001271620.2(ZNF423):c.1929G>A (p.Ser643=) rs143934881
NM_001271620.2(ZNF423):c.2124C>T (p.His708=) rs73565356
NM_001271620.2(ZNF423):c.2331C>T (p.Thr777=) rs77996576
NM_001271620.2(ZNF423):c.2358C>A (p.Pro786=) rs12599354
NM_001271620.2(ZNF423):c.2857C>T (p.Leu953=) rs35529066
NM_001271620.2(ZNF423):c.2960C>T (p.Ala987Val) rs111229124
NM_001271620.2(ZNF423):c.2976G>A (p.Ala992=) rs117592972
NM_001271620.2(ZNF423):c.3022C>A (p.Leu1008Met) rs79706004
NM_001271620.2(ZNF423):c.3087C>T (p.Tyr1029=) rs150027129
NM_001271620.2(ZNF423):c.3132G>A (p.Val1044=) rs61739947
NM_001271620.2(ZNF423):c.3147G>A (p.Pro1049=) rs113531514
NM_001271620.2(ZNF423):c.3157G>A (p.Ala1053Thr) rs147898137
NM_001271620.2(ZNF423):c.3189C>T (p.Pro1063=) rs61755180
NM_001271620.2(ZNF423):c.3646-9C>T rs78514142
NM_001271620.2(ZNF423):c.507C>T (p.Arg169=) rs16947744
NM_001271620.2(ZNF423):c.603C>T (p.Asp201=) rs145503941
NM_001271620.2(ZNF423):c.990G>A (p.Pro330=) rs61747467
NM_001276327.1(SLC22A12):c.-424T>C rs559946
NM_001276327.1(SLC22A12):c.-718C>T rs9734313
NM_001278293.3(ARL6):c.*225G>C rs4857294
NM_001278293.3(ARL6):c.480-8C>T rs77010939
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.1008C>T (p.His336=) rs75225632
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.126C>T (p.Ser42=) rs150928869
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001365068.1(ASTN2):c.2806+25938G>A rs3019
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279
NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=) rs113537035
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=) rs202082545
NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) rs201310509
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062
NM_001377.3(DYNC2H1):c.3744+9C>T rs142483417
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906
NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=) rs201016942
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738
NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=) rs76833922
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804
NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613
NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val) rs114292876
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870
NM_001377.3(DYNC2H1):c.9939T>C (p.Ala3313=) rs192003811
NM_001382.4(DPAGT1):c.*184G>A rs8551
NM_001382.4(DPAGT1):c.*417T>C rs7759
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303
NM_001710.5(CFB):c.1365C>T (p.Val455=) rs2072634
NM_001710.5(CFB):c.450A>G (p.Arg150=) rs1048709
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291
NM_001845.6(COL4A1):c.*587C>A rs13260
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492
NM_001845.6(COL4A1):c.234+8C>T rs9521650
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219
NM_001845.6(COL4A1):c.4640+7C>T rs2275843
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.616-11G>C rs645114
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.85-11T>C rs41275104
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001846.4(COL4A2):c.-133A>G rs35466678
NM_001846.4(COL4A2):c.-203T>C rs7991332
NM_001846.4(COL4A2):c.-215C>T rs7990017
NM_001846.4(COL4A2):c.-232C>G rs7990009
NM_001846.4(COL4A2):c.-277A>C rs7989823
NM_002204.4(ITGA3):c.1469+10T>C rs4793639
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339
NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626
NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) rs144092322
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu) rs368506627
NM_002292.4(LAMB2):c.3325G>A (p.Glu1109Lys) rs79677861
NM_002292.4(LAMB2):c.3443G>A (p.Arg1148His) rs138774635
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349
NM_002292.4(LAMB2):c.4034G>A (p.Arg1345His) rs75073433
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln) rs146522641
NM_002292.4(LAMB2):c.4222C>T (p.Leu1408=) rs143974640
NM_002292.4(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) rs114485284
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356
NM_002316.3(LMX1B):c.*1255A>G rs16929236
NM_002316.3(LMX1B):c.*1304G>A rs73596779
NM_002316.3(LMX1B):c.*1389T>G rs13300385
NM_002316.3(LMX1B):c.*1393G>T rs13299451
NM_002316.3(LMX1B):c.*1473G>A rs13299609
NM_002316.3(LMX1B):c.*1582A>G rs10987415
NM_002316.3(LMX1B):c.*1666C>T rs10987416
NM_002316.3(LMX1B):c.*1992T>C rs34776870
NM_002316.3(LMX1B):c.*1997G>A rs35632228
NM_002316.3(LMX1B):c.*2184A>G rs10733682
NM_002316.3(LMX1B):c.*2393T>C rs10120414
NM_002316.3(LMX1B):c.*2394G>C rs10760451
NM_002316.3(LMX1B):c.*2590_*2591del rs398069012
NM_002316.3(LMX1B):c.*27G>A rs10115373
NM_002316.3(LMX1B):c.*2984C>T rs4083644
NM_002316.3(LMX1B):c.*3182A>G rs3861878
NM_002316.3(LMX1B):c.*3342T>C rs4083645
NM_002316.3(LMX1B):c.*3346G>A rs7023938
NM_002316.3(LMX1B):c.*3771G>T rs10987417
NM_002316.3(LMX1B):c.*3833A>G rs10987418
NM_002316.3(LMX1B):c.*3864T>C rs10987419
NM_002316.3(LMX1B):c.*3881G>T rs10987421
NM_002316.3(LMX1B):c.*3957C>A rs10987422
NM_002316.3(LMX1B):c.*4171T>C rs3814119
NM_002316.3(LMX1B):c.*451C>T rs71497630
NM_002316.3(LMX1B):c.*51A>G rs10121481
NM_002316.3(LMX1B):c.*584C>T rs34200683
NM_002316.3(LMX1B):c.*708G>A rs10987413
NM_002316.3(LMX1B):c.*748C>T rs10987414
NM_002316.3(LMX1B):c.*79G>A rs10115393
NM_002316.3(LMX1B):c.*898C>T rs10760450
NM_002316.3(LMX1B):c.*932G>T rs28687510
NM_002316.3(LMX1B):c.1086C>T (p.Ser362=) rs10115304
NM_002316.3(LMX1B):c.326+7G>C rs1336980
NM_002316.3(LMX1B):c.441A>G (p.Glu147=) rs2277158
NM_002316.3(LMX1B):c.726G>C (p.Ser242=) rs13295990
NM_002381.5(MATN3):c.*176C>T rs7569975
NM_002381.5(MATN3):c.1406-4C>T rs35973216
NM_002382.5(MAX):c.*1127G>C rs4902357
NM_002382.5(MAX):c.*404C>T rs4902359
NM_002382.5(MAX):c.*461C>T rs183428804
NM_002382.5(MAX):c.*565G>A rs1957948
NM_002382.5(MAX):c.*587G>A rs1957949
NM_002382.5(MAX):c.*717T>C rs4902358
NM_002382.5(MAX):c.*92G>A rs45604339
NM_002389.4(CD46):c.*897T>C rs7144
NM_002389.4(CD46):c.417A>G (p.Leu139=) rs12126088
NM_002473.5(MYH9):c.*1160del rs56058205
NM_002473.5(MYH9):c.*1314C>T rs2481
NM_002473.5(MYH9):c.*136C>A rs115869378
NM_002473.5(MYH9):c.*137C>A rs114268057
NM_002473.5(MYH9):c.*238G>T rs11703176
NM_002473.5(MYH9):c.*261G>C rs11089787
NM_002473.5(MYH9):c.*312C>T rs16996639
NM_002473.5(MYH9):c.*596G>A rs136200
NM_002473.5(MYH9):c.*732C>T rs12107
NM_002473.5(MYH9):c.*800T>C rs7078
NM_002473.5(MYH9):c.1554+7A>G rs3752462
NM_002473.5(MYH9):c.1728+10G>A rs2413396
NM_002473.5(MYH9):c.2256T>C (p.Asn752=) rs9619601
NM_002473.5(MYH9):c.2900T>A (p.Val967Glu) rs16996652
NM_002473.5(MYH9):c.3100+11G>C rs41279999
NM_002473.5(MYH9):c.3345A>G (p.Glu1115=) rs875725
NM_002473.5(MYH9):c.3429T>G (p.Ala1143=) rs710181
NM_002473.5(MYH9):c.3838-8C>T rs145429636
NM_002473.5(MYH9):c.4563C>T (p.His1521=) rs11549907
NM_002473.5(MYH9):c.4872G>T (p.Ala1624=) rs2269530
NM_002473.5(MYH9):c.4876A>G (p.Ile1626Val) rs2269529
NM_002473.5(MYH9):c.4899G>A (p.Arg1633=) rs5756130
NM_002473.5(MYH9):c.5766-3del rs141686520
NM_002473.5(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002618.4(PEX13):c.*2147A>G rs2564097
NM_002618.4(PEX13):c.*358G>A rs1177230
NM_002618.4(PEX13):c.*952C>T rs56739127
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002734.4(PRKAR1A):c.*1212T>G rs8905
NM_002734.4(PRKAR1A):c.*1244T>C rs9925
NM_002734.4(PRKAR1A):c.*1777C>T rs7977
NM_002734.4(PRKAR1A):c.*2188C>G rs6958
NM_002734.4(PRKAR1A):c.*587dup rs398041821
NM_002734.4(PRKAR1A):c.*870G>A rs8082254
NM_002734.4(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241
NM_002734.4(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_002734.4(PRKAR1A):c.349-5dup rs3841514
NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.770-9G>T rs562094333
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NM_002743.3(PRKCSH):c.*185T>C rs8616
NM_002743.3(PRKCSH):c.79+10_79+12del rs143936796
NM_002743.3(PRKCSH):c.850-14T>C rs186375
NM_002743.3(PRKCSH):c.871G>A (p.Ala291Thr) rs11557488
NM_002743.3(PRKCSH):c.939_941GGA[9] (p.Glu325del) rs3217229
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_002857.3(PEX19):c.*2156C>G rs10594
NM_002857.3(PEX19):c.261C>T (p.Phe87=) rs146644725
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_002968.2(SALL1):c.*588del rs35929381
NM_002968.2(SALL1):c.*997C>A rs116971887
NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) rs536108231
NM_002968.2(SALL1):c.2544A>G (p.Gln848=) rs45459896
NM_002968.2(SALL1):c.2574C>T (p.Leu858=) rs1965024
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.292A>G (p.Met98Val) rs28643388
NM_002968.2(SALL1):c.3456C>T (p.His1152=) rs11645288
NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) rs4614723
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.390G>A (p.Pro130=) rs75156807
NM_002968.2(SALL1):c.448_450AGC[11] (p.Ser159dup) rs113614842
NM_002968.2(SALL1):c.448_450AGC[9] (p.Ser159del) rs113614842
NM_002968.2(SALL1):c.475A>G (p.Ser159Gly) rs13336129
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.18C>A (p.Ala6=) rs2746462
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.424-37TTC[10] rs34261028
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*1025G>T rs16832859
NM_003001.3(SDHC):c.*1181_*1182insA rs34067216
NM_003001.3(SDHC):c.*123C>G rs3813632
NM_003001.3(SDHC):c.*1335A>G rs3935401
NM_003001.3(SDHC):c.*1379C>T rs114731359
NM_003001.3(SDHC):c.*1800G>C rs72714988
NM_003001.3(SDHC):c.*2052C>G rs12239492
NM_003001.3(SDHC):c.*2156A>C rs116668612
NM_003001.3(SDHC):c.*2318del rs57914150
NM_003001.3(SDHC):c.*247C>G rs540126021
NM_003001.3(SDHC):c.*385G>A rs8266
NM_003001.3(SDHC):c.*469G>A rs148834287
NM_003001.3(SDHC):c.*612C>T rs16865495
NM_003001.3(SDHC):c.*624A>G rs114438179
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.*968A>G rs4600063
NM_003001.3(SDHC):c.-32T>C rs115782155
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.179+10G>A rs532455044
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.3(SDHC):c.354T>C (p.Phe118=) rs61733156
NM_003002.4(SDHD):c.*260T>A rs149570245
NM_003002.4(SDHD):c.*532A>T rs146261846
NM_003002.4(SDHD):c.*613T>C rs693441
NM_003002.4(SDHD):c.*803A>G rs17113461
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003361.3(UMOD):c.*104C>T rs111699931
NM_003361.3(UMOD):c.*130C>T rs113468667
NM_003361.3(UMOD):c.-47T>C rs75645968
NM_003361.3(UMOD):c.-56G>A rs79245268
NM_003361.3(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.3(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.3(UMOD):c.264C>T (p.Gly88=) rs77875418
NM_003361.3(UMOD):c.425G>A (p.Arg142Gln) rs199835347
NM_003361.3(UMOD):c.522C>T (p.Cys174=) rs7193058
NM_003361.3(UMOD):c.538C>G (p.Leu180Val) rs187555378
NM_003361.3(UMOD):c.792G>A (p.Val264=) rs13335818
NM_003361.3(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.3(UMOD):c.885G>A (p.Gly295=) rs28544423
NM_003590.5(CUL3):c.*1774G>T rs13016316
NM_003590.5(CUL3):c.*2073A>G rs10498161
NM_003590.5(CUL3):c.*2192T>C rs3768898
NM_003590.5(CUL3):c.*2193G>A rs73993899
NM_003590.5(CUL3):c.*2431G>T rs10498160
NM_003590.5(CUL3):c.*2653G>A rs3768899
NM_003590.5(CUL3):c.*3148A>G rs17479770
NM_003590.5(CUL3):c.*3367T>C rs4674908
NM_003590.5(CUL3):c.*3672T>C rs2396092
NM_003590.5(CUL3):c.*3736del rs5839066
NM_003590.5(CUL3):c.*3789C>T rs4234054
NM_003590.5(CUL3):c.*3991A>G rs12470077
NM_003590.5(CUL3):c.*940C>T rs3768897
NM_003590.5(CUL3):c.1485+13G>A rs3754629
NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) rs3738952
NM_003590.5(CUL3):c.1992A>G (p.Gln664=) rs2070127
NM_003611.2:c.441+65A>G
NM_003611.3(OFD1):c.-296G>T rs2285635
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.111+3A>G rs312262804
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.3(OFD1):c.654+29G>A rs312262805
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_003630.3(PEX3):c.*319A>T rs223234
NM_003630.3(PEX3):c.942-13A>G rs161058
NM_003742.4(ABCB11):c.*236A>G rs473351
NM_003742.4(ABCB11):c.*368G>A rs495714
NM_003742.4(ABCB11):c.*420A>G rs496550
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616
NM_003742.4(ABCB11):c.909-15A>G rs2287618
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_003759.3(SLC4A4):c.*411G>C rs1453452
NM_003990.5(PAX2):c.360C>T (p.Ala120=) rs41291450
NM_003990.5(PAX2):c.43+10G>C rs4472867
NM_003990.5(PAX2):c.978A>C (p.Pro326=) rs1800898
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) rs76896145
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011
NM_004168.4(SDHA):c.1569T>C (p.Ala523=) rs150192376
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.4(SDHA):c.1664-8G>A rs199790689
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004371.4(COPA):c.1005T>C (p.Tyr335=) rs74125578
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843
NM_004371.4(COPA):c.192A>G (p.Pro64=) rs143827776
NM_004371.4(COPA):c.2263+7A>G rs116596416
NM_004371.4(COPA):c.2319C>T (p.Ser773=) rs74125574
NM_004371.4(COPA):c.2754+4A>G rs75190422
NM_004371.4(COPA):c.297G>A (p.Thr99=) rs77097084
NM_004371.4(COPA):c.399G>A (p.Gly133=) rs142221638
NM_004371.4(COPA):c.436A>G (p.Thr146Ala) rs57425682
NM_004371.4(COPA):c.994A>G (p.Met332Val) rs115066135
NM_004484.3(GPC3):c.1032+9C>T rs200782847
NM_004484.3(GPC3):c.1232G>T (p.Ser411Ile) rs139206747
NM_004484.3(GPC3):c.1254C>T (p.Asn418=) rs150766741
NM_004484.3(GPC3):c.1287G>A (p.Val429=) rs756598026
NM_004484.3(GPC3):c.1426A>G (p.Met476Val) rs200265913
NM_004484.3(GPC3):c.1500T>C (p.Asp500=) rs2314298
NM_004484.3(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.3(GPC3):c.1626A>G (p.Ala542=) rs61754631
NM_004484.3(GPC3):c.1631C>T (p.Pro544Leu) rs375606908
NM_004484.3(GPC3):c.1632G>A (p.Pro544=) rs766482434
NM_004484.3(GPC3):c.1641C>T (p.Asn547=) rs772217919
NM_004484.3(GPC3):c.1680C>T (p.Ser560=) rs748480657
NM_004484.3(GPC3):c.168C>G (p.Pro56=) rs188592483
NM_004484.3(GPC3):c.1716G>C (p.Val572=) rs779688123
NM_004484.3(GPC3):c.172C>T (p.Pro58Ser) rs147231796
NM_004484.3(GPC3):c.358C>T (p.Arg120Cys) rs587778392
NM_004484.3(GPC3):c.359G>A (p.Arg120His) rs148021273
NM_004484.3(GPC3):c.384C>T (p.Ala128=) rs761541528
NM_004484.3(GPC3):c.459T>G (p.Ser153=) rs775459305
NM_004484.3(GPC3):c.485A>G (p.Asn162Ser) rs780431445
NM_004484.3(GPC3):c.648G>C (p.Met216Ile) rs752516966
NM_004484.3(GPC3):c.660C>T (p.Ser220=) rs138450923
NM_004484.3(GPC3):c.79_81CCG[6] (p.Pro31dup) rs749104500
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004484.3(GPC3):c.876T>C (p.Ile292=) rs61754633
NM_004484.3(GPC3):c.889A>G (p.Arg297Gly) rs148951753
NM_004484.3(GPC3):c.897C>T (p.Tyr299=) rs200421668
NM_004484.3(GPC3):c.972T>C (p.Phe324=) rs183678432
NM_004484.3(GPC3):c.995A>G (p.Gln332Arg) rs78696048
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375
NM_004565.3(PEX14):c.384+14A>T rs284238
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004621.6(TRPC6):c.*553T>G rs7931399
NM_004621.6(TRPC6):c.*710_*711insTTTA rs145266305
NM_004621.6(TRPC6):c.-218C>T rs56134796
NM_004621.6(TRPC6):c.-254C>G rs3824934
NM_004621.6(TRPC6):c.-361A>T rs41302375
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) rs36111323
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=) rs12366144
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) rs61743044
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=) rs72984209
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=) rs12805398
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser) rs3802829
NM_004629.1(FANCG):c.-392A>G rs10972302
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-490G>T rs10972303
NM_004629.1(FANCG):c.1133C>T (p.Ser378Leu) rs4986939
NM_004629.1(FANCG):c.1538G>A (p.Arg513Gln) rs17885240
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_004629.1(FANCG):c.1638T>C (p.Gly546=) rs45537335
NM_004629.1(FANCG):c.20C>T (p.Ser7Phe) rs35984312
NM_004629.1(FANCG):c.238C>T (p.Leu80=) rs115131067
NM_004629.1(FANCG):c.375C>G (p.Val125=) rs199754122
NM_004629.1(FANCG):c.640C>T (p.Arg214Cys) rs61757385
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004629.1(FANCG):c.988C>T (p.Pro330Ser) rs4986940
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004895.4(NLRP3):c.*177del rs796764638
NM_004895.4(NLRP3):c.*230G>C rs10754558
NM_004895.4(NLRP3):c.*351dup rs397821684
NM_004895.4(NLRP3):c.*396T>A rs10802501
NM_004895.4(NLRP3):c.*489C>T rs10802502
NM_004895.4(NLRP3):c.-34G>T rs73136263
NM_004895.4(NLRP3):c.-405T>C rs7523422
NM_004895.4(NLRP3):c.-555T>G rs72771992
NM_004895.4(NLRP3):c.1308C>T (p.Ser436=) rs34298354
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.663C>T (p.Thr221=) rs7525979
NM_004895.4(NLRP3):c.732G>A (p.Ala244=) rs3806268
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) rs12986337
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) rs1136956
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) rs11553600
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) rs3745859
NM_004972.3(JAK2):c.*1119G>T rs12000101
NM_004972.3(JAK2):c.-197T>C rs2274472
NM_004972.3(JAK2):c.2490G>A (p.Leu830=) rs2230724
NM_004972.3(JAK2):c.489C>T (p.His163=) rs2230722
NM_005236.2(ERCC4):c.1446A>G (p.Glu482=) rs114077770
NM_005236.2(ERCC4):c.1812-5T>C rs2020952
NM_005236.2(ERCC4):c.1884A>G (p.Glu628=) rs2020958
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2463A>G (p.Pro821=) rs2020953
NM_005236.2(ERCC4):c.252C>T (p.Leu84=) rs3136056
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.2724C>T (p.Val908=) rs3136225
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005236.2(ERCC4):c.389-5C>T rs377224276
NM_005236.2(ERCC4):c.974-7_974-6invGT
NM_005461.5(MAFB):c.*1592del rs3215567
NM_005461.5(MAFB):c.*1849C>T rs3577
NM_005461.5(MAFB):c.*2008T>A rs56049320
NM_005461.5(MAFB):c.*929dup rs11482617
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005603.6(ATP8B1):c.*1254T>C rs17685852
NM_005603.6(ATP8B1):c.*1509A>G rs1968274
NM_005603.6(ATP8B1):c.*1937T>A rs1129621
NM_005603.6(ATP8B1):c.*2015del rs35833803
NM_005603.6(ATP8B1):c.*283G>A rs11152024
NM_005603.6(ATP8B1):c.*587G>A rs317822
NM_005603.6(ATP8B1):c.*900G>T rs4940950
NM_005603.6(ATP8B1):c.-103C>T rs1848701
NM_005603.6(ATP8B1):c.2098-30_2098-25dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-27dup rs34422185
NM_005603.6(ATP8B1):c.3532-15C>T rs12958967
NM_005603.6(ATP8B1):c.696T>C (p.Asp232=) rs319438
NM_005603.6(ATP8B1):c.811A>C (p.Arg271=) rs319443
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3:c.213+15C>G
NM_005982.4(SIX1):c.*265del rs112733948
NM_005982.4(SIX1):c.*334C>G rs10144415
NM_005982.4(SIX1):c.*766del rs33943216
NM_005989.4(AKR1D1):c.*1163T>C rs11763063
NM_005989.4(AKR1D1):c.*1274A>G rs11766258
NM_005989.4(AKR1D1):c.*1417C>T rs17169522
NM_005989.4(AKR1D1):c.*36C>T rs1872930
NM_005989.4(AKR1D1):c.*507G>A rs7780066
NM_005989.4(AKR1D1):c.*5A>C rs1872929
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560
NM_006580.3(CLDN16):c.*1763T>A rs9844654
NM_006580.3(CLDN16):c.*794T>C rs2293532
NM_006580.3(CLDN16):c.166G>C (p.Ala56Pro) rs3214506
NM_006580.3(CLDN16):c.324+10T>C rs1491994
NM_006642.5(SDCCAG8):c.-47T>A rs3904682
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr) rs115098969
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.2067G>A (p.Leu689=) rs191821211
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=) rs145877279
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006912.6(RIT1):c.375C>T (p.Asp125=)