ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5788
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3
GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1
GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3
GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1
GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1
GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3
GRCh37/hg19 1q44(chr1:245900039-246475061)x1
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1
GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1
GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3
GRCh37/hg19 7q35(chr7:147516080-147803861)x1
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1
NC_000017.11:g.58692541G>A
NM_000029.3(AGT):c.-190G>A rs11568020
NM_000029.3(AGT):c.-58A>C rs5050
NM_000029.4(AGT):c.620C>T (p.Thr207Met) rs4762
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.777-17C>A rs112319664
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000031.6(ALAD):c.*1811_*1812del rs142213018
NM_000031.6(ALAD):c.*613G>A rs818707
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000031.6(ALAD):c.397+12C>T rs8177805
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000035.4(ALDOB):c.*1003A>G rs80292759
NM_000035.4(ALDOB):c.*122G>A rs41310087
NM_000035.4(ALDOB):c.*206C>A rs17772869
NM_000035.4(ALDOB):c.*505C>A rs17772845
NM_000035.4(ALDOB):c.*552T>A rs41308902
NM_000035.4(ALDOB):c.*612A>G rs41296049
NM_000035.4(ALDOB):c.*897G>A rs17772839
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000039.2(APOA1):c.*19C>G rs187335584
NM_000039.2(APOA1):c.-11G>A rs199729971
NM_000039.2(APOA1):c.181G>A (p.Ala61Thr) rs12718465
NM_000039.2(APOA1):c.284T>A (p.Phe95Tyr) rs138407155
NM_000039.2(APOA1):c.454G>A (p.Glu152Lys) rs574061789
NM_000039.2(APOA1):c.732C>G (p.Pro244=) rs5080
NM_000053.4(ATP7B):c.*1172G>A rs1051332
NM_000053.4(ATP7B):c.*1182C>T rs79490882
NM_000053.4(ATP7B):c.*1708A>G rs17076111
NM_000053.4(ATP7B):c.*1717G>T rs77770386
NM_000053.4(ATP7B):c.*190C>A rs115420019
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094
NM_000053.4(ATP7B):c.1707+29dup rs113829533
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
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.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106
NM_000053.4(ATP7B):c.3556+29TC[2]
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.4021+34G>A
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.174G>A (p.Val58=) rs201810684
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) rs112109182
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*248T>C rs542356535
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*382A>G rs559790882
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*839T>C rs76358429
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.*854T>C rs572993583
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57del rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000067.3(CA2):c.*212A>G rs73263450
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000076.2(CDKN1C):c.123G>A (p.Glu41=) rs1468271941
NM_000076.2(CDKN1C):c.12G>C (p.Ala4=) rs1220484886
NM_000076.2(CDKN1C):c.438C>G (p.Ser146=) rs1554938064
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.558_581dup (p.179_180AP[12]) rs878853630
NM_000076.2(CDKN1C):c.579_596del (p.Val195_Pro200del) rs1203797892
NM_000076.2(CDKN1C):c.579_614del (p.Val195_Pro206del) rs1554937877
NM_000076.2(CDKN1C):c.600_623dup (p.197_198AP[14]) rs878853637
NM_000076.2(CDKN1C):c.624_629del rs759134767
NM_000076.2(CDKN1C):c.626_649dup (p.197_198AP[14]) rs778468310
NM_000076.2(CDKN1C):c.630_641dup (p.197_198AP[12]) rs1380480846
NM_000076.2(CDKN1C):c.693G>A (p.Gly231=) rs1554937788
NM_000076.2(CDKN1C):c.804C>T (p.Ser268=) rs747104008
NM_000076.2(CDKN1C):c.821-8G>T rs762520730
NM_000076.2(CDKN1C):c.876C>G (p.Pro292=) rs773166985
NM_000076.2(CDKN1C):c.906T>G (p.Pro302=) rs780417247
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*2452T>C rs4470338
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1576-15T>G rs56243460
NM_000091.4(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
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.547-9A>C rs55667591
NM_000091.4(COL4A3):c.766-13G>A rs77431913
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.88-4C>T rs148393022
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val)
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2165-13delT rs140965334
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041
NM_000092.4(COL4A4):c.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000097.7(CPOX):c.*1072C>T rs148251059
NM_000097.7(CPOX):c.*1105A>G rs73133922
NM_000097.7(CPOX):c.*136G>C rs142440038
NM_000097.7(CPOX):c.*227G>A rs146214523
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.*381C>T rs141236816
NM_000097.7(CPOX):c.*73T>C rs139447447
NM_000097.7(CPOX):c.*939A>G rs539237301
NM_000097.7(CPOX):c.*95G>A rs2229123
NM_000097.7(CPOX):c.-54C>T rs75986763
NM_000097.7(CPOX):c.-55G>C rs115030377
NM_000097.7(CPOX):c.-56G>C rs184287214
NM_000097.7(CPOX):c.1172+14A>G rs16839985
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011
NM_000130.4(F5):c.*1115C>T rs2040444
NM_000130.4(F5):c.*1118G>A rs9332675
NM_000130.4(F5):c.*1246C>T rs9332676
NM_000130.4(F5):c.*1436T>A rs9332678
NM_000130.4(F5):c.*1601C>T rs2187952
NM_000130.4(F5):c.*1820A>C rs72708013
NM_000130.4(F5):c.*2328G>C rs6427196
NM_000130.4(F5):c.*873C>T rs9332673
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.158+13T>C rs116416322
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.2925C>T (p.Pro975=) rs41272457
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.4189C>T (p.Leu1397Phe) rs13306334
NM_000130.4(F5):c.4210C>T (p.Pro1404Ser) rs9332608
NM_000130.4(F5):c.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.5022A>G (p.Gly1674=) rs6010
NM_000130.4(F5):c.5419+11C>T rs6008
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.5460G>A (p.Met1820Ile) rs6026
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*252G>C rs17233797
NM_000135.4(FANCA):c.*286C>T rs17233804
NM_000135.4(FANCA):c.*287G>A rs17227417
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
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.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3935-4G>A rs1392135704
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
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.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.-79+98A>G
NM_000136.3(FANCC):c.-87G>A
NM_000136.3(FANCC):c.1155-29A>G
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+181_1329+183del rs587778328
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1329+246del rs542091036
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.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1534-18C>T
NM_000136.3(FANCC):c.165+11G>C
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.166-9C>G
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)
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.687-5G>T
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.844-10_844-8del rs758617953
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.843C>G (p.Pro281=) rs755556442
NM_000137.3(FAH):c.961-17G>A rs372657388
NM_000140.4(FECH):c.*1032G>A rs140863287
NM_000140.4(FECH):c.*1039G>A rs185134664
NM_000140.4(FECH):c.*1054T>C rs192343321
NM_000140.4(FECH):c.*1479T>C rs112062178
NM_000140.4(FECH):c.*1508G>A rs540286571
NM_000140.4(FECH):c.*1567A>G rs574153215
NM_000140.4(FECH):c.*1915G>T rs148459563
NM_000140.4(FECH):c.*2443T>G rs201834035
NM_000140.4(FECH):c.*2644A>G rs558443758
NM_000140.4(FECH):c.*2788G>A rs145954113
NM_000140.4(FECH):c.*2840C>T rs568628377
NM_000140.4(FECH):c.*3129C>T rs137955859
NM_000140.4(FECH):c.*3170T>C rs75976774
NM_000140.4(FECH):c.*3339G>A rs113928110
NM_000140.4(FECH):c.*347G>A rs113392534
NM_000140.4(FECH):c.*3567G>A rs556538397
NM_000140.4(FECH):c.*3691C>T rs148141502
NM_000140.4(FECH):c.*3716C>T rs567960865
NM_000140.4(FECH):c.*3804G>A rs190604320
NM_000140.4(FECH):c.*3841C>T rs143797631
NM_000140.4(FECH):c.*4056C>T rs181920623
NM_000140.4(FECH):c.*4367C>T rs146417207
NM_000140.4(FECH):c.*4368G>A rs543603003
NM_000140.4(FECH):c.*4445G>A rs578202706
NM_000140.4(FECH):c.*4458C>T rs113000324
NM_000140.4(FECH):c.*4597T>C rs147684323
NM_000140.4(FECH):c.*4793_*4795TTA[1] rs137860528
NM_000140.4(FECH):c.*4829C>T rs565989254
NM_000140.4(FECH):c.*4883_*4884insC rs201434287
NM_000140.4(FECH):c.*5139C>T rs151197779
NM_000140.4(FECH):c.*5140G>A rs55987829
NM_000140.4(FECH):c.*5143C>T rs139987131
NM_000140.4(FECH):c.*5394G>T rs145935279
NM_000140.4(FECH):c.*571G>A rs114617188
NM_000140.4(FECH):c.*5801T>G rs139119026
NM_000140.4(FECH):c.*592C>T rs577112809
NM_000140.4(FECH):c.*892T>C rs13271
NM_000140.4(FECH):c.*936C>T rs144709743
NM_000140.4(FECH):c.132C>T (p.Ala44=) rs147500247
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.362A>G (p.Glu121Gly) rs141813907
NM_000140.4(FECH):c.385G>A (p.Gly129Arg) rs138714094
NM_000140.4(FECH):c.514G>A (p.Glu172Lys) rs200650502
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000140.4(FECH):c.913-13A>G rs200538834
NM_000140.4(FECH):c.913-7C>T rs369538477
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*221_*222del rs112946286
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000151.4(G6PC):c.*1012C>T rs75063448
NM_000151.4(G6PC):c.*1304G>A rs549833149
NM_000151.4(G6PC):c.*3G>A rs191399793
NM_000151.4(G6PC):c.*727T>C rs80193931
NM_000151.4(G6PC):c.*877T>C rs72826982
NM_000151.4(G6PC):c.340+20C>T rs183285298
NM_000151.4(G6PC):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC):c.606T>C (p.Tyr202=) rs1555560103
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000168.5(GLI3):c.*3392G>T rs115519476
NM_000168.6(GLI3):c.*1042dup rs200076691
NM_000168.6(GLI3):c.*1080G>A rs58924064
NM_000168.6(GLI3):c.*1087A>T rs76023240
NM_000168.6(GLI3):c.*11A>G rs139896177
NM_000168.6(GLI3):c.*1297G>A rs116029585
NM_000168.6(GLI3):c.*136T>A rs78794712
NM_000168.6(GLI3):c.*1464A>G rs566417596
NM_000168.6(GLI3):c.*1623A>G rs183853326
NM_000168.6(GLI3):c.*1691C>T rs181261768
NM_000168.6(GLI3):c.*185G>A rs531678760
NM_000168.6(GLI3):c.*2019C>T rs73318085
NM_000168.6(GLI3):c.*2071C>T rs539931592
NM_000168.6(GLI3):c.*2117A>G rs185099021
NM_000168.6(GLI3):c.*2276T>C rs568393106
NM_000168.6(GLI3):c.*2347C>A rs138209843
NM_000168.6(GLI3):c.*2357T>A rs562705224
NM_000168.6(GLI3):c.*249A>T rs6972450
NM_000168.6(GLI3):c.*2620C>G rs56158069
NM_000168.6(GLI3):c.*2715G>A rs193192167
NM_000168.6(GLI3):c.*30G>T rs77886553
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*3262A>G rs73096902
NM_000168.6(GLI3):c.*3309C>A rs553151369
NM_000168.6(GLI3):c.*655A>G rs77197280
NM_000168.6(GLI3):c.*726A>G rs118157739
NM_000168.6(GLI3):c.*835G>A rs73688609
NM_000168.6(GLI3):c.*847C>A rs116986447
NM_000168.6(GLI3):c.*943G>A rs139782938
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.1028+15G>A rs116842918
NM_000168.6(GLI3):c.1029-11C>T rs116195563
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1647+13G>A rs149955824
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
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.2856C>T (p.Ser952=) rs1214730213
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
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.3669C>T (p.Tyr1223=) rs773687251
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.3804C>T (p.Leu1268=) rs373193430
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242
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.444C>T (p.Tyr148=) rs142241970
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.4638A>G (p.Pro1546=) rs1233172983
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.4740A>G (p.Gln1580=) rs375653915
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-125T>G rs185255090
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.2(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000176.3(NR3C1):c.*1220_*1225dup rs72542761
NM_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) rs147403664
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.245-7G>A rs35814900
NM_000186.3(CFH):c.2509G>A (p.Val837Ile) rs55807605
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) rs186711438
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867
NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) rs55679475
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.210+5C>A rs79983883
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408
NM_000190.4(HMBS):c.612+4G>A rs745705652
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000213.5(ITGB4):c.*4C>T rs189610725
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*619C>T rs146144464
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.2682+8A>G rs560065330
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.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000239.2(LYZ):c.*169G>A rs568058282
NM_000239.2(LYZ):c.*191A>G rs183375295
NM_000239.2(LYZ):c.*242C>A rs576522577
NM_000239.2(LYZ):c.*415G>A rs183441118
NM_000239.2(LYZ):c.*418C>A rs534565279
NM_000239.2(LYZ):c.*461G>A rs531233279
NM_000239.2(LYZ):c.*521G>A rs567541896
NM_000239.2(LYZ):c.*735del rs148802204
NM_000239.2(LYZ):c.*890T>C rs188271229
NM_000239.2(LYZ):c.156G>A (p.Trp52Ter) rs764263034
NM_000239.2(LYZ):c.415G>C (p.Val139Leu) rs367623154
NM_000243.2(MEFV):c.*1056G>T rs450021
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*466_*468del rs61379197
NM_000243.2(MEFV):c.*474C>G rs11466051
NM_000243.2(MEFV):c.*475A>G rs11466052
NM_000243.2(MEFV):c.*743T>C rs170387
NM_000243.2(MEFV):c.*836_*837insACT rs34895148
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1899G>T (p.Pro633=) rs776315170
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
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.-20G>A rs386134244
NM_000244.3(MEN1):c.-24+200C>G
NM_000244.3(MEN1):c.-47A>G
NM_000244.3(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_000244.3(MEN1):c.1064+9C>G rs200517349
NM_000244.3(MEN1):c.1095C>T (p.Ile365=) rs147331514
NM_000244.3(MEN1):c.1098C>T (p.Tyr366=) rs1168237114
NM_000244.3(MEN1):c.1146G>A (p.Lys382=) rs1555164674
NM_000244.3(MEN1):c.114C>G (p.Ser38=) rs1252317486
NM_000244.3(MEN1):c.1182G>C (p.Arg394=) rs1194388602
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1201-9C>T rs1555164455
NM_000244.3(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_000244.3(MEN1):c.1366-6G>A rs1555164004
NM_000244.3(MEN1):c.1393C>A (p.Arg465=) rs104894267
NM_000244.3(MEN1):c.1401C>A (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1473G>A (p.Glu491=) rs1413990417
NM_000244.3(MEN1):c.1488G>A (p.Glu496=) rs1555163642
NM_000244.3(MEN1):c.1509A>T (p.Pro503=) rs1037335560
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1560C>A (p.Pro520=) rs1555163491
NM_000244.3(MEN1):c.1623G>A (p.Gln541=) rs1055457298
NM_000244.3(MEN1):c.1656G>A (p.Glu552=) rs1555163295
NM_000244.3(MEN1):c.1794C>T (p.Ser598=) rs1157546350
NM_000244.3(MEN1):c.183C>A (p.Leu61=) rs1555166622
NM_000244.3(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_000244.3(MEN1):c.240G>T (p.Val80=) rs1555166545
NM_000244.3(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.339C>T (p.Ser113=) rs559635859
NM_000244.3(MEN1):c.369T>C (p.Asp123=) rs1555166369
NM_000244.3(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.461-9C>A rs1371109251
NM_000244.3(MEN1):c.489C>T (p.Ala163=) rs772526802
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_000244.3(MEN1):c.669+10C>T rs921850475
NM_000244.3(MEN1):c.669+9C>A rs202134234
NM_000244.3(MEN1):c.669+9C>G rs202134234
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.735G>T (p.Val245=) rs1555165534
NM_000244.3(MEN1):c.741C>T (p.Ala247=) rs1198651608
NM_000244.3(MEN1):c.744C>T (p.Ile248=) rs1353237754
NM_000244.3(MEN1):c.799-16C>T rs754257177
NM_000244.3(MEN1):c.840-8T>C rs1555165330
NM_000244.3(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_000244.3(MEN1):c.936C>T (p.Ala312=) rs1060503788
NM_000244.3(MEN1):c.978C>T (p.Tyr326=) rs1555165094
NM_000244.3(MEN1):c.993C>T (p.Gly331=) rs1555165071
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.-22G>C rs556823296
NM_000267.3(NF1):c.111G>A (p.Glu37=) rs1555604893
NM_000267.3(NF1):c.1248A>T (p.Arg416=) rs1403345664
NM_000267.3(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_000267.3(NF1):c.1359T>C (p.Gly453=) rs1555611595
NM_000267.3(NF1):c.1371C>T (p.His457=) rs1318894606
NM_000267.3(NF1):c.1374A>G (p.Pro458=) rs1555611601
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1569A>G (p.Ala523=) rs1555612830
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1641+7G>C rs1060503887
NM_000267.3(NF1):c.1677T>C (p.Asp559=) rs1209447028
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1707A>G (p.Thr569=) rs1060503898
NM_000267.3(NF1):c.1722-6C>T rs878853869
NM_000267.3(NF1):c.1875C>T (p.Leu625=) rs974172157
NM_000267.3(NF1):c.1887G>A (p.Gly629=) rs1555613561
NM_000267.3(NF1):c.1902T>A (p.Ile634=) rs1555613566
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2031C>G (p.Pro677=) rs753177596
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2097C>T (p.Asp699=) rs547905840
NM_000267.3(NF1):c.2130C>T (p.Phe710=) rs1555613806
NM_000267.3(NF1):c.2175A>G (p.Glu725=) rs1555613817
NM_000267.3(NF1):c.2181A>G (p.Ser727=) rs1203116843
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2271A>G (p.Lys757=) rs1555613916
NM_000267.3(NF1):c.2325+7C>T rs1555613937
NM_000267.3(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_000267.3(NF1):c.2415T>G (p.Ala805=) rs1555614182
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.264T>C (p.Asp88=) rs1359209770
NM_000267.3(NF1):c.2742G>A (p.Arg914=) rs1555614324
NM_000267.3(NF1):c.2781T>G (p.Pro927=) rs1555614337
NM_000267.3(NF1):c.2841C>T (p.Ser947=) rs1555614355
NM_000267.3(NF1):c.2850+17T>C
NM_000267.3(NF1):c.2851-10C>G rs1555614412
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_000267.3(NF1):c.3192T>C (p.Leu1064=) rs1555614649
NM_000267.3(NF1):c.3195A>G (p.Thr1065=) rs1555614650
NM_000267.3(NF1):c.3198-4_3198-3insTTTC rs864622717
NM_000267.3(NF1):c.3198-6_3198-1del
NM_000267.3(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_000267.3(NF1):c.3340T>C (p.Leu1114=) rs1555614928
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3417A>T (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_000267.3(NF1):c.3519C>T (p.Leu1173=) rs1555615020
NM_000267.3(NF1):c.3549G>C (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.3639A>G (p.Thr1213=) rs1555615069
NM_000267.3(NF1):c.3648T>A (p.Gly1216=) rs1060503897
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.36C>A (p.Ala12=) rs786203866
NM_000267.3(NF1):c.3708+7G>A rs1555615115
NM_000267.3(NF1):c.372T>C (p.Cys124=) rs1555606078
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_000267.3(NF1):c.4110+9A>T rs1555617387
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4125T>A (p.Arg1375=) rs1555618496
NM_000267.3(NF1):c.4146T>C (p.Gly1382=) rs761772247
NM_000267.3(NF1):c.4188C>T (p.Ala1396=) rs1555618524
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4200G>T (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4368-8T>C rs1555618801
NM_000267.3(NF1):c.4416T>C (p.Asn1472=) rs1060503888
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4584A>G (p.Pro1528=) rs1305841472
NM_000267.3(NF1):c.4608A>G (p.Thr1536=) rs876658990
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.4773-7203TGT[3]
NM_000267.3(NF1):c.480-5T>C rs1555607069
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.4869C>T (p.Asp1623=) rs1555533304
NM_000267.3(NF1):c.48C>T (p.Arg16=) rs1315327163
NM_000267.3(NF1):c.4950C>T (p.Tyr1650=) rs1060500255
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4977T>C (p.Tyr1659=) rs1555533351
NM_000267.3(NF1):c.504A>G (p.Ser168=) rs876658638
NM_000267.3(NF1):c.5187C>T (p.Asp1729=) rs1210732116
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5427C>T (p.Arg1809=) rs1245095693
NM_000267.3(NF1):c.5454C>A (p.Ile1818=) rs865839207
NM_000267.3(NF1):c.5562T>C (p.Asn1854=) rs1275173622
NM_000267.3(NF1):c.5595A>G (p.Leu1865=) rs1555533854
NM_000267.3(NF1):c.5610G>A (p.Gln1870=) rs1555533857
NM_000267.3(NF1):c.586+10_586+15del rs1555607130
NM_000267.3(NF1):c.5913T>C (p.Ile1971=) rs766233634
NM_000267.3(NF1):c.5970A>C (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5982C>A (p.Ile1994=) rs1433863184
NM_000267.3(NF1):c.61-1G>T
NM_000267.3(NF1):c.61-2A>T rs1131691100
NM_000267.3(NF1):c.61-4del rs551568608
NM_000267.3(NF1):c.6123C>T (p.Cys2041=) rs1555534669
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.6129T>C (p.Ser2043=) rs765094377
NM_000267.3(NF1):c.6150A>G (p.Gln2050=) rs1060503910
NM_000267.3(NF1):c.6165T>C (p.Asp2055=) rs1555534682
NM_000267.3(NF1):c.6234T>C (p.His2078=) rs751517473
NM_000267.3(NF1):c.6261T>C (p.Thr2087=) rs1555534728
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.6324C>T (p.Ile2108=) rs786203078
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.6365-6T>C rs772738883
NM_000267.3(NF1):c.6537A>C (p.Thr2179=) rs747576584
NM_000267.3(NF1):c.6579+42T>C
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6580-8T>C rs752079977
NM_000267.3(NF1):c.6618C>T (p.Asp2206=) rs876659371
NM_000267.3(NF1):c.6756+7G>C rs200532525
NM_000267.3(NF1):c.6757-5A>G rs1555535022
NM_000267.3(NF1):c.6757-7C>T rs1555535020
NM_000267.3(NF1):c.6759A>C (p.Ala2253=) rs1555535025
NM_000267.3(NF1):c.6829C>T (p.Leu2277=) rs1555535049
NM_000267.3(NF1):c.6858+9T>C rs1555535059
NM_000267.3(NF1):c.6859-5G>A rs1555535158
NM_000267.3(NF1):c.6966T>C (p.His2322=) rs1555535187
NM_000267.3(NF1):c.7000-7_7000-6delinsC rs864622725
NM_000267.3(NF1):c.7000-9C>T rs1555535398
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7104A>C (p.Ala2368=) rs1555535447
NM_000267.3(NF1):c.7126+8dup rs753952604
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7182A>G (p.Thr2394=) rs539553128
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7251C>T (p.Tyr2417=) rs1060500385
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.730+8T>C rs1555608771
NM_000267.3(NF1):c.7320T>C (p.Leu2440=) rs1555536133
NM_000267.3(NF1):c.7365T>C (p.Tyr2455=) rs181397225
NM_000267.3(NF1):c.7398A>C (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7407G>A (p.Glu2469=) rs1555536339
NM_000267.3(NF1):c.7507C>T (p.Leu2503=) rs1555536366
NM_000267.3(NF1):c.7518G>C (p.Gly2506=) rs1555536369
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.7552+8T>C rs1555536383
NM_000267.3(NF1):c.75A>C (p.Thr25=) rs768754175
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.771T>C (p.Ala257=) rs766932517
NM_000267.3(NF1):c.7731G>A (p.Val2577=) rs1555536699
NM_000267.3(NF1):c.7977A>T (p.Pro2659=) rs749163014
NM_000267.3(NF1):c.804A>G (p.Pro268=) rs759964997
NM_000267.3(NF1):c.8051-70A>T rs192112633
NM_000267.3(NF1):c.8064T>C (p.Asn2688=) rs1555537015
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_000267.3(NF1):c.8314+6509A>T
NM_000267.3(NF1):c.834A>G (p.Pro278=) rs1318820078
NM_000267.3(NF1):c.8355C>T (p.Gly2785=) rs1555538535
NM_000267.3(NF1):c.843C>A (p.Ile281=) rs146094856
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.930T>C (p.His310=) rs1555610865
NM_000267.3(NF1):c.96C>G (p.Thr32=) rs1555604886
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.156A>G (p.Leu52=) rs759699517
NM_000272.4(NPHP1):c.1602C>T (p.His534=) rs148809478
NM_000272.4(NPHP1):c.2097G>A (p.Gln699=) rs1553479835
NM_000272.4(NPHP1):c.39G>A (p.Leu13=) rs1553498753
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000280.4(PAX6):c.-107C>T rs111270711
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000280.4(PAX6):c.-180A>G rs75563367
NM_000280.4(PAX6):c.-316-8C>G rs566281941
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.327G>A (p.Glu109=) rs114384476
NM_000280.4(PAX6):c.711G>A (p.Val237=) rs145329506
NM_000280.4(PAX6):c.831G>A (p.Gln277=) rs149053004
NM_000286.3(PEX12):c.*166C>A rs1037590
NM_000286.3(PEX12):c.*297T>C rs113891712
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*636T>C rs111424374
NM_000286.3(PEX12):c.-534C>T rs2278950
NM_000287.4(PEX6):c.*319C>T rs736158
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.*1067G>A rs11628917
NM_000295.5(SERPINA1):c.*1331G>A rs11568814
NM_000295.5(SERPINA1):c.*1555C>T rs56325294
NM_000295.5(SERPINA1):c.*224G>A rs2073333
NM_000295.5(SERPINA1):c.*316G>T rs1243164
NM_000295.5(SERPINA1):c.*481G>A rs1243165
NM_000295.5(SERPINA1):c.*854T>C rs1051052
NM_000295.5(SERPINA1):c.*968T>C rs1243166
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) rs1444508096
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) rs1400497428
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) rs143370956
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) rs864622046
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) rs1566748077
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) rs778747339
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) rs749295615
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546
NM_000295.5(SERPINA1):c.469G>A (p.Asp157Asn)
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) rs1445192595
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) rs1555368744
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) rs746531546
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) rs1316729320
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) rs864622053
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) rs864622054
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.779C>T (p.Ser260Phe)
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) rs141095970
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) rs957169128
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) rs864622048
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) rs1802963
NM_000297.4(PKD2):c.*1030G>A rs2725202
NM_000297.4(PKD2):c.*1237G>A rs10965
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.*256C>T rs2728121
NM_000297.4(PKD2):c.*837C>G rs77638442
NM_000297.4(PKD2):c.-26C>T rs530444554
NM_000297.4(PKD2):c.-82G>C rs529779778
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.1548+9G>C rs376901684
NM_000297.4(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000318.3(PEX2):c.*1141G>A rs10108054
NM_000318.3(PEX2):c.*1696C>T rs112199677
NM_000318.3(PEX2):c.*1909G>T rs112352942
NM_000318.3(PEX2):c.*2142A>G rs79700176
NM_000318.3(PEX2):c.*2338C>T rs56231626
NM_000318.3(PEX2):c.*2446C>T rs73242165
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000339.3(SLC12A3):c.*1204T>C rs116537640
NM_000339.3(SLC12A3):c.*1301A>C rs9927820
NM_000339.3(SLC12A3):c.*1674C>T rs3812963
NM_000339.3(SLC12A3):c.*2068C>G rs142540870
NM_000339.3(SLC12A3):c.*2432T>C rs115344087
NM_000339.3(SLC12A3):c.*975A>G rs56079121
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.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.2748-13T>C rs34772420
NM_000339.3(SLC12A3):c.366A>G (p.Ala122=) rs2304479
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*234C>A rs79424762
NM_000340.2(SLC2A2):c.*356A>T rs7610064
NM_000340.2(SLC2A2):c.*474A>G rs114710971
NM_000340.2(SLC2A2):c.*476T>C rs75975646
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.*909C>T rs77733690
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1469C>T rs3176124
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*158G>A rs3176121
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*325T>C rs186669520
NM_000361.2(THBD):c.*338C>T rs536637715
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) rs41400249
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1680G>A rs532372427
NM_000368.4(TSC1):c.*1785A>G rs74362385
NM_000368.4(TSC1):c.*1861G>A rs561511694
NM_000368.4(TSC1):c.*1902T>G rs142038787
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2094G>A rs534649062
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2142T>C rs112314368
NM_000368.4(TSC1):c.*2168C>T rs532469694
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2708G>C rs150433809
NM_000368.4(TSC1):c.*2733A>G rs73552805
NM_000368.4(TSC1):c.*279T>G rs554637460
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893del rs143549363
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*3997G>A rs148982924
NM_000368.4(TSC1):c.*4057G>A rs17149898
NM_000368.4(TSC1):c.*405A>G rs560193480
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4631del rs60000611
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*60T>G rs577329896
NM_000368.4(TSC1):c.*651C>G rs369911288
NM_000368.4(TSC1):c.*677G>C rs189890583
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-99C>T rs114755636
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.1029+8G>A rs1036865129
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.106+9A>G rs1554820969
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.4(TSC1):c.1142-9G>A rs1554817169
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1263+9C>T rs761837376
NM_000368.4(TSC1):c.1305A>G (p.Gln435=) rs1334781311
NM_000368.4(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.4(TSC1):c.1539A>G (p.Pro513=) rs755055358
NM_000368.4(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.4(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.4(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.4(TSC1):c.1954C>T (p.Leu652=) rs747452647
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.4(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2391+8C>T rs1554814904
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2626-3dup rs1554813639
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.4(TSC1):c.2814-7C>T rs1060504851
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.2982C>T (p.Asp994=) rs199919348
NM_000368.4(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3429G>C (p.Pro1143=) rs759431801
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.3489C>T (p.His1163=) rs1554812527
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.804A>G (p.Glu268=) rs753895570
NM_000368.4(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.4(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.4(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_000368.5(TSC1):c.2626-3_2626-2insT
NM_000369.2(TSHR):c.*1106G>T rs150923034
NM_000369.2(TSHR):c.*1152T>A rs2288494
NM_000369.2(TSHR):c.*1154dupT rs3214569
NM_000369.2(TSHR):c.*1222G>C rs2288495
NM_000369.2(TSHR):c.*1289A>G rs150122093
NM_000369.2(TSHR):c.*1417T>C rs2288496
NM_000369.2(TSHR):c.*1580A>G rs189084497
NM_000369.2(TSHR):c.*172C>A rs2268477
NM_000369.2(TSHR):c.*1813T>A rs58832257
NM_000369.2(TSHR):c.*182G>T rs373305430
NM_000369.2(TSHR):c.*18C>A rs77789619
NM_000369.2(TSHR):c.*245C>T rs7144481
NM_000369.2(TSHR):c.*431T>C rs17630128
NM_000369.2(TSHR):c.*474G>T rs61266735
NM_000369.2(TSHR):c.*728A>G rs73342245
NM_000369.2(TSHR):c.*909C>T rs2288493
NM_000369.2(TSHR):c.*960T>C rs142517342
NM_000369.2(TSHR):c.106G>C (p.Asp36His) rs61747482
NM_000369.2(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.2(TSHR):c.2181G>C (p.Glu727Asp) rs1991517
NM_000369.2(TSHR):c.2232C>G (p.Asn744Lys) rs61743974
NM_000369.2(TSHR):c.545+13A>G rs2241119
NM_000369.2(TSHR):c.561T>C (p.Asn187=) rs2075179
NM_000369.2(TSHR):c.881+3A>G rs186091357
NM_000374.5(UROD):c.*3G>A rs74349352
NM_000374.5(UROD):c.-134T>G rs7536892
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000379.4(XDH):c.*1081A>G rs45488100
NM_000379.4(XDH):c.*41G>C rs45593434
NM_000379.4(XDH):c.*705_*706CT[1] rs10590467
NM_000379.4(XDH):c.*878T>C rs45532535
NM_000379.4(XDH):c.-66G>C rs36208390
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.1509C>G (p.Gly503=) rs45612839
NM_000379.4(XDH):c.1686+8C>T rs17395224
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
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.1567-18C>T rs372108131
NM_000383.4(AIRE):c.653-5C>T rs771182213
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000434.4(NEU1):c.*581G>A rs551222239
NM_000434.4(NEU1):c.-40T>G rs41267082
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976
NM_000458.3(HNF1B):c.-178G>A rs148442901
NM_000458.3(HNF1B):c.-232C>T rs142612536
NM_000458.4(HNF1B):c.*403A>G rs557216745
NM_000458.4(HNF1B):c.*445A>G rs571607314
NM_000458.4(HNF1B):c.*683G>A rs144234352
NM_000458.4(HNF1B):c.*804T>C rs75361710
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-67C>T rs140699244
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) rs187556368
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000458.4(HNF1B):c.810-4C>G
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*3A>G rs2070256
NM_000485.3(APRT):c.*47T>C rs8191497
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473
NM_000486.5(AQP2):c.*1218T>C rs376984675
NM_000486.5(AQP2):c.*1228T>G rs77904078
NM_000486.5(AQP2):c.*1395C>T rs140054228
NM_000486.5(AQP2):c.*2101C>T rs77661963
NM_000486.5(AQP2):c.*2250C>T rs296767
NM_000486.5(AQP2):c.*252G>A rs114099597
NM_000486.5(AQP2):c.*2795T>G rs1077521
NM_000486.5(AQP2):c.*907C>T rs60887132
NM_000486.5(AQP2):c.342G>A (p.Gly114=) rs35400945
NM_000486.5(AQP2):c.345C>T (p.Asp115=) rs60629501
NM_000486.5(AQP2):c.438C>T (p.Phe146=) rs143886391
NM_000495.5(COL4A5):c.1855C>T (p.Pro619Ser) rs1569494314
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.4282C>A (p.Leu1428Met) rs1569508163
NM_000495.5(COL4A5):c.891+9T>G rs779787322
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138del rs148110533
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1622C>T rs543935807
NM_000497.3(CYP11B1):c.*1770A>T rs369448045
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.*848C>T rs149520110
NM_000497.3(CYP11B1):c.*857T>C rs370725779
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) rs201951316
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) rs201137503
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) rs141368413
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) rs5290
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*299G>A rs528171695
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*579T>C rs559136479
NM_000498.3(CYP11B2):c.*746G>A rs570202161
NM_000498.3(CYP11B2):c.-14G>C rs6440
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807
NM_000498.3(CYP11B2):c.395+10G>A rs193166276
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337
NM_000498.3(CYP11B2):c.595+14G>A rs5307
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.203-46C>T
NM_000500.9(CYP21A2):c.292+37T>A
NM_000500.9(CYP21A2):c.292+45_292+46insTGT
NM_000500.9(CYP21A2):c.292+56T>G
NM_000500.9(CYP21A2):c.293-136C>T
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000503.5(EYA1):c.*1914T>G rs112480709
NM_000503.6(EYA1):c.*1217_*1219TTA[1] rs574723016
NM_000503.6(EYA1):c.*1222A>C rs117394899
NM_000503.6(EYA1):c.*1263C>T rs140308724
NM_000503.6(EYA1):c.*1275G>A rs192113669
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.*1561_*1564ATCA[3] rs553875263
NM_000503.6(EYA1):c.*1890A>G rs377092983
NM_000503.6(EYA1):c.*23G>A rs373876510
NM_000503.6(EYA1):c.*353C>T rs151172668
NM_000503.6(EYA1):c.*705G>T rs79700717
NM_000503.6(EYA1):c.*784T>C rs77243350
NM_000503.6(EYA1):c.*86C>A rs186838732
NM_000503.6(EYA1):c.-191C>G rs55694100
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-454G>A rs569684779
NM_000503.6(EYA1):c.-49A>G rs773963094
NM_000503.6(EYA1):c.1141-15T>G rs186249248
NM_000503.6(EYA1):c.1200-11C>A rs181457812
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219
NM_000503.6(EYA1):c.1699-3C>T rs117149407
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681
NM_000503.6(EYA1):c.743C>T (p.Thr248Met) rs186736708
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742
NM_000503.6(EYA1):c.966+4C>T rs139429307
NM_000512.5(GALNS):c.*224C>G rs111233947
NM_000512.5(GALNS):c.*296A>G rs79507351
NM_000512.5(GALNS):c.*524G>C rs3759946
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*132+34C>A rs1277208445
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.316-150C>G rs193922556
NM_000518.5(HBB):c.316-184T>C rs193922557
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000537.4(REN):c.22C>G (p.Pro8Ala) rs61746500
NM_000537.4(REN):c.492+3A>G rs5706
NM_000537.4(REN):c.630C>T (p.Phe210=) rs141706094
NM_000537.4(REN):c.663G>A (p.Glu221=) rs34069565
NM_000537.4(REN):c.9A>T (p.Gly3=) rs5704
NM_000546.5(TP53):c.375+17G>A rs765179201
NM_000546.5(TP53):c.376-18dup rs756417643
NM_000546.5(TP53):c.672+15T>C rs140756213
NM_000546.5(TP53):c.672+18G>C rs199578278
NM_000546.5(TP53):c.673-37C>T rs374907737
NM_000546.5(TP53):c.74+14T>C rs184743157
NM_000546.5(TP53):c.74+9A>C rs1057517593
NM_000546.5(TP53):c.782+12C>T rs17881780
NM_000546.5(TP53):c.783-13C>G rs1555525373
NM_000546.5(TP53):c.97-15T>C rs1555526843
NM_000546.5(TP53):c.97-28T>A rs200989844
NM_000546.5(TP53):c.993+234G>A rs17883348
NM_000546.5(TP53):c.993+244G>A rs576532147
NM_000546.5(TP53):c.993+326_993+341del rs730882013
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.*26G>A rs13332015
NM_000548.5(TSC2):c.*44T>C rs188991734
NM_000548.5(TSC2):c.*55_*58TAAA[1] rs137854184
NM_000548.5(TSC2):c.*5G>A rs201342697
NM_000548.5(TSC2):c.*71C>T rs45498900
NM_000548.5(TSC2):c.-29-10G>C rs28537973
NM_000548.5(TSC2):c.-65G>C rs563544506
NM_000548.5(TSC2):c.1083G>A (p.Leu361=) rs1057524138
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.1212G>A (p.Gln404=) rs1156766051
NM_000548.5(TSC2):c.1248C>T (p.Asp416=) rs1555501144
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.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.133C>T (p.Leu45=) rs1555494707
NM_000548.5(TSC2):c.135G>T (p.Leu45=) rs1555494715
NM_000548.5(TSC2):c.1361+9T>C rs1041094432
NM_000548.5(TSC2):c.1362-32C>G rs45517166
NM_000548.5(TSC2):c.1362-9G>A rs763842281
NM_000548.5(TSC2):c.1371C>G (p.Ser457=) rs1060504093
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.1434G>A (p.Gln478=) rs1555501735
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1575C>T (p.Asn525=) rs1060504098
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.1600-14C>T rs45517185
NM_000548.5(TSC2):c.1600-8C>T rs1555503101
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1677T>C (p.Asp559=) rs1555503256
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018
NM_000548.5(TSC2):c.1717-8C>G rs755425128
NM_000548.5(TSC2):c.1725G>A (p.Leu575=) rs747173035
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1761T>C (p.Tyr587=) rs753179817
NM_000548.5(TSC2):c.1776C>T (p.Ser592=) rs1555505122
NM_000548.5(TSC2):c.1797G>A (p.Lys599=) rs1168827262
NM_000548.5(TSC2):c.1809C>T (p.Thr603=) rs1016247433
NM_000548.5(TSC2):c.1815A>T (p.Pro605=) rs961687056
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.1852C>T (p.Leu618=) rs1164507294
NM_000548.5(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792
NM_000548.5(TSC2):c.1947-10G>A rs778293037
NM_000548.5(TSC2):c.1947-4G>A rs201633455
NM_000548.5(TSC2):c.2016G>C (p.Pro672=) rs774517903
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
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.2049C>T (p.Ser683=) rs569518378
NM_000548.5(TSC2):c.2058C>T (p.Tyr686=) rs1186913814
NM_000548.5(TSC2):c.2064G>C (p.Leu688=) rs1202311439
NM_000548.5(TSC2):c.2073C>T (p.Arg691=) rs45512398
NM_000548.5(TSC2):c.2098-4G>T rs1306044216
NM_000548.5(TSC2):c.2112G>A (p.Lys704=) rs1555506423
NM_000548.5(TSC2):c.2137C>T (p.Leu713=) rs1555506453
NM_000548.5(TSC2):c.2184C>T (p.Cys728=) rs1555506557
NM_000548.5(TSC2):c.2239C>T (p.Leu747=) rs45517221
NM_000548.5(TSC2):c.226-7G>C rs1555496912
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2271C>T (p.Phe757=) rs1555506918
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2308C>T (p.Leu770=) rs762215859
NM_000548.5(TSC2):c.2337C>T (p.Tyr779=) rs1060504118
NM_000548.5(TSC2):c.2338C>T (p.Leu780=) rs1555507017
NM_000548.5(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.5(TSC2):c.2355+7G>A rs999583473
NM_000548.5(TSC2):c.2358C>A (p.Arg786=) rs372834284
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.2484G>A (p.Val828=) rs780395534
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2613C>T (p.Ile871=) rs1555508408
NM_000548.5(TSC2):c.2617C>T (p.Leu873=) rs1555508418
NM_000548.5(TSC2):c.261T>C (p.Asp87=) rs1555496967
NM_000548.5(TSC2):c.2640-7A>G rs1555508569
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2739T>C (p.Thr913=) rs773285889
NM_000548.5(TSC2):c.273G>A (p.Pro91=) rs772296140
NM_000548.5(TSC2):c.2748G>A (p.Leu916=) rs757674443
NM_000548.5(TSC2):c.2751G>A (p.Arg917=) rs1555508897
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.27A>G (p.Ser9=) rs1555494555
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.291C>G (p.Ala97=) rs137933794
NM_000548.5(TSC2):c.2922C>T (p.Ala974=) rs1555509505
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.2961C>A (p.Val987=) rs775637322
NM_000548.5(TSC2):c.2973A>C (p.Ile991=) rs750003833
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3048A>G (p.Lys1016=) rs1555510299
NM_000548.5(TSC2):c.3057C>T (p.His1019=) rs1060504102
NM_000548.5(TSC2):c.3084C>T (p.Asp1028=) rs1555510350
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3131+8C>A rs763702215
NM_000548.5(TSC2):c.3255G>A (p.Ser1085=) rs750617693
NM_000548.5(TSC2):c.3261G>A (p.Glu1087=) rs45438093
NM_000548.5(TSC2):c.3276G>C (p.Pro1092=) rs368923127
NM_000548.5(TSC2):c.3282G>A (p.Ser1094=) rs1060504095
NM_000548.5(TSC2):c.3303T>C (p.His1101=) rs1233334406
NM_000548.5(TSC2):c.3324G>A (p.Ala1108=) rs786203392
NM_000548.5(TSC2):c.3333G>A (p.Lys1111=) rs557648435
NM_000548.5(TSC2):c.3336G>T (p.Leu1112=) rs1389714633
NM_000548.5(TSC2):c.333G>C (p.Gly111=) rs1198874350
NM_000548.5(TSC2):c.3363C>G (p.Ser1121=) rs1555510946
NM_000548.5(TSC2):c.3390C>T (p.Ser1130=) rs867238767
NM_000548.5(TSC2):c.3398-6C>T rs1555511284
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691
NM_000548.5(TSC2):c.346T>C (p.Leu116=) rs751923657
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295
NM_000548.5(TSC2):c.3480T>G (p.Thr1160=) rs766888262
NM_000548.5(TSC2):c.3519C>T (p.Thr1173=) rs754306983
NM_000548.5(TSC2):c.3611-10G>A rs372045362
NM_000548.5(TSC2):c.3634C>T (p.Leu1212=) rs1358537146
NM_000548.5(TSC2):c.366C>T (p.Leu122=) rs1397677711
NM_000548.5(TSC2):c.3732C>T (p.His1244=) rs1264194267
NM_000548.5(TSC2):c.3815-15G>A rs45480591
NM_000548.5(TSC2):c.3819C>A (p.Ala1273=) rs1248167345
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
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.3924T>C (p.Val1308=) rs878854097
NM_000548.5(TSC2):c.3942C>A (p.Pro1314=) rs759988275
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4006-8C>T rs45517325
NM_000548.5(TSC2):c.4006-9C>T rs1555513765
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4092C>T (p.Ser1364=) rs1251019267
NM_000548.5(TSC2):c.4128C>T (p.Phe1376=) rs1060504086
NM_000548.5(TSC2):c.4143C>T (p.Pro1381=) rs1555514056
NM_000548.5(TSC2):c.4146G>A (p.Leu1382=) rs1162436739
NM_000548.5(TSC2):c.4155C>T (p.Ser1385=) rs1057521540
NM_000548.5(TSC2):c.4179T>G (p.Thr1393=) rs1555514101
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.4227G>T (p.Arg1409=) rs1555514188
NM_000548.5(TSC2):c.4230G>C (p.Leu1410=) rs1193907816
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
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.4296C>G (p.Ala1432=) rs1555514284
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.4332C>G (p.Pro1444=) rs373973956
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=) rs1555514397
NM_000548.5(TSC2):c.4383C>T (p.Tyr1461=) rs397514977
NM_000548.5(TSC2):c.4455A>G (p.Thr1485=) rs1555514579
NM_000548.5(TSC2):c.4461C>G (p.Ser1487=) rs777104003
NM_000548.5(TSC2):c.4473A>G (p.Lys1491=) rs1266546987
NM_000548.5(TSC2):c.4493+10T>C rs764108528
NM_000548.5(TSC2):c.4493+12_4493+15del rs1555514698
NM_000548.5(TSC2):c.4494-10C>T rs753499012
NM_000548.5(TSC2):c.4504C>T (p.Leu1502=) rs928525608
NM_000548.5(TSC2):c.4509G>A (p.Gln1503=) rs45517349
NM_000548.5(TSC2):c.4512C>A (p.Leu1504=) rs771595886
NM_000548.5(TSC2):c.4515C>T (p.Tyr1505=) rs45471791
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4623C>T (p.Asp1541=) rs1555515315
NM_000548.5(TSC2):c.4635C>T (p.Ile1545=) rs757388437
NM_000548.5(TSC2):c.4650T>C (p.Val1550=) rs1555515367
NM_000548.5(TSC2):c.4662+7C>T rs1555515435
NM_000548.5(TSC2):c.4663-5C>T rs1555515976
NM_000548.5(TSC2):c.4710G>A (p.Arg1570=) rs1389060581
NM_000548.5(TSC2):c.4752G>A (p.Leu1584=) rs1555516171
NM_000548.5(TSC2):c.4827C>T (p.Cys1609=) rs1179490369
NM_000548.5(TSC2):c.4854C>G (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4854C>T (p.Val1618=) rs45517378
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.5(TSC2):c.492C>T (p.Val164=) rs1424637610
NM_000548.5(TSC2):c.4959C>G (p.Ser1653=) rs45517384
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.4990-7dup rs1555439636
NM_000548.5(TSC2):c.4990-9del rs1555439631
NM_000548.5(TSC2):c.5022C>G (p.Thr1674=) rs777184691
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.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.5136C>T (p.Ala1712=) rs878854114
NM_000548.5(TSC2):c.5149C>T (p.Leu1717=) rs1555440199
NM_000548.5(TSC2):c.5157A>C (p.Ala1719=) rs1555440217
NM_000548.5(TSC2):c.5160+11dup rs137854048
NM_000548.5(TSC2):c.5161-9C>T rs45515893
NM_000548.5(TSC2):c.5190C>A (p.Ser1730=) rs1305025066
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5313G>C (p.Pro1771=) rs765607686
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5346C>G (p.Ala1782=) rs557200243
NM_000548.5(TSC2):c.5358T>C (p.Pro1786=) rs1230726900
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5373C>G (p.Gly1791=) rs1555441528
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.600-10C>T rs1555498511
NM_000548.5(TSC2):c.630G>A (p.Ala210=) rs567756494
NM_000548.5(TSC2):c.655C>T (p.Leu219=) rs369046625
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000548.5(TSC2):c.775-5C>G rs181827303
NM_000548.5(TSC2):c.813C>T (p.Ser271=) rs752676212
NM_000548.5(TSC2):c.816C>A (p.Ala272=) rs917246659
NM_000548.5(TSC2):c.848+7G>A rs45442896
NM_000548.5(TSC2):c.849-7del rs1555499625
NM_000548.5(TSC2):c.852C>T (p.Ala284=) rs1555499631
NM_000548.5(TSC2):c.855C>T (p.Tyr285=) rs794726983
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.5(TSC2):c.996G>A (p.Glu332=) rs757788971
NM_000551.3(VHL):c.*1328C>A rs78562649
NM_000551.3(VHL):c.*1452A>T rs552760935
NM_000551.3(VHL):c.*1465C>A rs183067022
NM_000551.3(VHL):c.*1619T>C rs145608408
NM_000551.3(VHL):c.*1680T>C rs561087293
NM_000551.3(VHL):c.*1721C>G rs574191130
NM_000551.3(VHL):c.*1867A>G rs566885734
NM_000551.3(VHL):c.*1960G>A rs9822696
NM_000551.3(VHL):c.*1990G>A rs113678809
NM_000551.3(VHL):c.*2468C>T rs138237298
NM_000551.3(VHL):c.*2594C>A rs191582744
NM_000551.3(VHL):c.*2715C>T rs578053681
NM_000551.3(VHL):c.*2716G>A rs538719970
NM_000551.3(VHL):c.*3021T>C rs138933035
NM_000551.3(VHL):c.*303A>T rs573000980
NM_000551.3(VHL):c.*3352G>A rs112130915
NM_000551.3(VHL):c.*3395C>T rs184144719
NM_000551.3(VHL):c.*3492_*3493dup rs112494627
NM_000551.3(VHL):c.*3523T>G rs17610448
NM_000551.3(VHL):c.*3603C>T rs145137834
NM_000551.3(VHL):c.*523del rs546118793
NM_000551.3(VHL):c.*574T>C rs143062510
NM_000551.3(VHL):c.*724T>G rs13090104
NM_000551.3(VHL):c.*820A>G rs182781943
NM_000551.3(VHL):c.*823G>A rs7629500
NM_000551.3(VHL):c.-77C>T rs3087462
NM_000551.3(VHL):c.108G>A (p.Glu36=) rs1553619344
NM_000551.3(VHL):c.114C>T (p.Ser38=) rs417164
NM_000551.3(VHL):c.135G>A (p.Pro45=) rs773519476
NM_000551.3(VHL):c.159G>A (p.Glu53=) rs1553619385
NM_000551.3(VHL):c.168C>T (p.Ala56=) rs864622714
NM_000551.3(VHL):c.172C>A (p.Arg58=) rs757781272
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.258C>G (p.Pro86=) rs781063331
NM_000551.3(VHL):c.271T>G (p.Phe91Val) rs1559426039
NM_000551.3(VHL):c.291C>G (p.Pro97=) rs1805159
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.340+7G>C rs869025635
NM_000551.3(VHL):c.340+8C>T rs756068442
NM_000551.3(VHL):c.341-21_341-17del rs869025639
NM_000551.3(VHL):c.341-6C>T rs191201783
NM_000551.3(VHL):c.345C>T (p.His115=) rs864622646
NM_000551.3(VHL):c.375C>T (p.His125=) rs863224372
NM_000551.3(VHL):c.402A>G (p.Glu134=) rs201482330
NM_000551.3(VHL):c.411G>C (p.Val137=) rs1553619969
NM_000551.3(VHL):c.463+37_463+39del rs869025658
NM_000551.3(VHL):c.463+8C>T rs5030834
NM_000551.3(VHL):c.504C>T (p.Ser168=) rs1553620323
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.549G>A (p.Ser183=) rs193922614
NM_000551.3(VHL):c.552C>T (p.Leu184=) rs779157605
NM_000551.3(VHL):c.57C>A (p.Gly19=) rs1453582828
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000551.3(VHL):c.60C>G (p.Val20=) rs1553619311
NM_000551.3(VHL):c.631A>C (p.Met211Leu) rs200019083
NM_000551.3(VHL):c.6C>G (p.Pro2=) rs1014417508
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=) rs1553616026
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000789.4(ACE):c.*586C>A rs74979666
NM_000789.4(ACE):c.*591_*592del rs202110175
NM_000789.4(ACE):c.*709G>A rs112901380
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458
NM_000789.4(ACE):c.1775A>G (p.Asp592Gly) rs12709426
NM_000789.4(ACE):c.177G>A (p.Gln59=) rs147912715
NM_000789.4(ACE):c.2787C>T (p.Thr929=) rs4348
NM_000789.4(ACE):c.2791C>T (p.Leu931=) rs141180606
NM_000789.4(ACE):c.2952G>A (p.Val984=) rs3730044
NM_000789.4(ACE):c.3380+5C>T rs12720737
NM_000789.4(ACE):c.3691+5C>T rs12720744
NM_000789.4(ACE):c.3856C>A (p.Arg1286Ser) rs4364
NM_000789.4(ACE):c.3906G>A (p.Glu1302=) rs4365
NM_000789.4(ACE):c.44_49CGCTGC[3] (p.15_16PL[3]) rs532691783
NM_000789.4(ACE):c.655+13C>T rs4300
NM_000789.4(ACE):c.781G>T (p.Ala261Ser) rs4303
NM_000890.5(KCNJ5):c.*1091G>A rs565178107
NM_000890.5(KCNJ5):c.*1216C>T rs566376081
NM_000890.5(KCNJ5):c.*121G>T rs78979538
NM_000890.5(KCNJ5):c.*1302C>T rs552826605
NM_000890.5(KCNJ5):c.*1310C>T rs537850039
NM_000890.5(KCNJ5):c.*34G>T rs116494206
NM_000890.5(KCNJ5):c.*449A>T rs115414355
NM_000890.5(KCNJ5):c.*547G>A rs114896724
NM_000890.5(KCNJ5):c.*759C>T rs75453162
NM_000890.5(KCNJ5):c.*936C>T rs77525858
NM_000890.5(KCNJ5):c.*960G>C rs186315097
NM_000890.5(KCNJ5):c.*96G>A rs77092337
NM_000890.5(KCNJ5):c.*977T>C rs181648220
NM_000890.5(KCNJ5):c.-63G>C rs557063967
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=) rs528463709
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=) rs146853795
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val) rs369703183
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782
NM_000901.4(NR3C2):c.*2581C>T rs146849424
NM_000901.5(NR3C2):c.*1121T>C rs114071155
NM_000901.5(NR3C2):c.*1165C>T rs5533
NM_000901.5(NR3C2):c.*1206G>C rs557553789
NM_000901.5(NR3C2):c.*1209G>A rs118144639
NM_000901.5(NR3C2):c.*1452C>T rs181282602
NM_000901.5(NR3C2):c.*1508A>G rs5535
NM_000901.5(NR3C2):c.*1541_*1544dup rs140789678
NM_000901.5(NR3C2):c.*1667_*1670TTTG[1] rs146592484
NM_000901.5(NR3C2):c.*1726_*1729dup rs199601327
NM_000901.5(NR3C2):c.*1774A>G rs377659495
NM_000901.5(NR3C2):c.*1802G>A rs5536
NM_000901.5(NR3C2):c.*1836_*1839ATTA[1] rs570043057
NM_000901.5(NR3C2):c.*2065A>C rs72647600
NM_000901.5(NR3C2):c.*2088G>A rs145711262
NM_000901.5(NR3C2):c.*2388T>C rs5537
NM_000901.5(NR3C2):c.*2410T>C rs186309103
NM_000901.5(NR3C2):c.*325G>A rs201950852
NM_000901.5(NR3C2):c.*412C>T rs17024360
NM_000901.5(NR3C2):c.*755A>C rs5532
NM_000901.5(NR3C2):c.*804G>T rs72648707
NM_000901.5(NR3C2):c.*86T>C rs5530
NM_000901.5(NR3C2):c.*890T>G rs72648706
NM_000901.5(NR3C2):c.-213G>A rs571381864
NM_000901.5(NR3C2):c.-3+10G>A rs72646913
NM_000901.5(NR3C2):c.-8A>T rs61760021
NM_000901.5(NR3C2):c.103G>C (p.Glu35Gln) rs141860706
NM_000901.5(NR3C2):c.1092G>A (p.Thr364=) rs61729559
NM_000901.5(NR3C2):c.1398T>C (p.Tyr466=) rs5524
NM_000901.5(NR3C2):c.1661A>G (p.Asn554Ser) rs5527
NM_000901.5(NR3C2):c.1689C>T (p.His563=) rs5528
NM_000901.5(NR3C2):c.1705A>G (p.Arg569Gly) rs61759976
NM_000901.5(NR3C2):c.1791A>G (p.Ser597=) rs34905604
NM_000901.5(NR3C2):c.2126C>T (p.Thr709Met) rs139938639
NM_000901.5(NR3C2):c.2139T>C (p.Pro713=) rs151096115
NM_000901.5(NR3C2):c.2178G>A (p.Gln726=) rs144234574
NM_000901.5(NR3C2):c.2312G>A (p.Arg771His) rs143057152
NM_000901.5(NR3C2):c.2412T>C (p.Tyr804=) rs548602386
NM_000901.5(NR3C2):c.2578G>A (p.Val860Ile) rs147398624
NM_000901.5(NR3C2):c.449G>A (p.Arg150His) rs13306591
NM_001001329.2(PRKCSH):c.-143G>A rs138496627
NM_001001329.2(PRKCSH):c.-299_-298CT[1] rs376159338
NM_001001433.3(STX16):c.*1049G>A rs559176715
NM_001001433.3(STX16):c.*114C>T rs191638951
NM_001001433.3(STX16):c.*1488A>C rs565168524
NM_001001433.3(STX16):c.*1652G>A rs186800651
NM_001001433.3(STX16):c.*1725A>T rs545095749
NM_001001433.3(STX16):c.*1790A>T rs145827696
NM_001001433.3(STX16):c.*1797C>G rs148109645
NM_001001433.3(STX16):c.*1863C>A rs141875151
NM_001001433.3(STX16):c.*1899C>T rs138678203
NM_001001433.3(STX16):c.*2080G>A rs111631847
NM_001001433.3(STX16):c.*2183G>A rs147429412
NM_001001433.3(STX16):c.*2199C>T rs139818778
NM_001001433.3(STX16):c.*2293G>A rs185815575
NM_001001433.3(STX16):c.*2543G>C rs75424783
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*2885C>T rs188362833
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.*651_*653dup rs566135029
NM_001001433.3(STX16):c.-160G>A rs368572667
NM_001001433.3(STX16):c.-355C>T rs141733765
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.-534C>G rs190719996
NM_001001433.3(STX16):c.-550G>A rs148071494
NM_001001433.3(STX16):c.-63T>C rs181473720
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.132+15G>A rs139859128
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538
NM_001001433.3(STX16):c.394-7C>T rs533111939
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604
NM_001001433.3(STX16):c.557-7G>C rs41276952
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037
NM_001001547.3(CD36):c.701_701+3dup rs1554343345
NM_001002295.2(GATA3):c.*1029C>T rs530772797
NM_001002295.2(GATA3):c.*26C>G rs200946839
NM_001002295.2(GATA3):c.*491A>G rs138815232
NM_001002295.2(GATA3):c.*575A>C rs552915242
NM_001002295.2(GATA3):c.*746C>T rs545858251
NM_001002295.2(GATA3):c.*798G>A rs531077807
NM_001002295.2(GATA3):c.-264G>T rs35971003
NM_001002295.2(GATA3):c.-351C>T rs34628951
NM_001002295.2(GATA3):c.-359G>A rs138512915
NM_001002295.2(GATA3):c.-48G>T rs554517990
NM_001002295.2(GATA3):c.-49C>T rs11567942
NM_001002295.2(GATA3):c.-69G>A rs28395794
NM_001002295.2(GATA3):c.-95G>T rs369825935
NM_001002295.2(GATA3):c.1179C>T (p.Asn393=) rs138679257
NM_001002295.2(GATA3):c.1257G>A (p.Thr419=) rs11567941
NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) rs541782074
NM_001002295.2(GATA3):c.216G>T (p.Val72=) rs560531559
NM_001002295.2(GATA3):c.480C>G (p.Asp160Glu) rs143627754
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267
NM_001002295.2(GATA3):c.706C>G (p.Pro236Ala) rs148835259
NM_001002295.2(GATA3):c.72G>A (p.Pro24=) rs202168967
NM_001002295.2(GATA3):c.870C>T (p.Leu290=) rs575091
NM_001003945.2(ALAD):c.-234C>G rs7026518
NM_001003945.2(ALAD):c.-234dup rs143518565
NM_001003945.2(ALAD):c.-235_-234dup rs143518565
NM_001003945.2(ALAD):c.-256C>T rs28550589
NM_001008216.2(GALE):c.-77+311C>T rs113324056
NM_001008216.2(GALE):c.709+14C>G rs6692104
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001009944.3(PKD1):c.10168-34G>A
NM_001009944.3(PKD1):c.10234C>T (p.Pro3412Ser)
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010
NM_001009944.3(PKD1):c.10397C>T (p.Ser3466Leu)
NM_001009944.3(PKD1):c.1097C>G (p.Ser366Trp)
NM_001009944.3(PKD1):c.11156+36C>T
NM_001009944.3(PKD1):c.11304C>T (p.His3768=)
NM_001009944.3(PKD1):c.11713-3C>T
NM_001009944.3(PKD1):c.12250C>T (p.Pro4084Ser)
NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg) rs369397443
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.2854-7C>T
NM_001009944.3(PKD1):c.2986-14G>A
NM_001009944.3(PKD1):c.3168C>T (p.Thr1056=)
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser)
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4338C>T (p.Thr1446=)
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
NM_001009944.3(PKD1):c.45G>C (p.Leu15=)
NM_001009944.3(PKD1):c.4657G>A (p.Val1553Ile)
NM_001009944.3(PKD1):c.4856C>T (p.Ser1619Phe) rs146723506
NM_001009944.3(PKD1):c.6420C>T (p.Thr2140=)
NM_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.6915+27A>C
NM_001009944.3(PKD1):c.739C>T (p.Leu247Phe) rs537409943
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
NM_001009944.3(PKD1):c.7488G>A (p.Thr2496=)
NM_001009944.3(PKD1):c.7851C>T (p.Thr2617=)
NM_001009944.3(PKD1):c.8016+7T>C
NM_001009944.3(PKD1):c.8119G>A (p.Val2707Met)
NM_001009944.3(PKD1):c.8161+38delinsACGTGGCCCGTCCGCCCCA
NM_001009944.3(PKD1):c.8325G>A (p.Thr2775=)
NM_001009944.3(PKD1):c.8672_8680CCAACTCCG[3] (p.2891_2893ANS[3])
NM_001009944.3(PKD1):c.8688_8689insCCAACTCCG (p.Val2897_Val2898insProThrPro)
NM_001009944.3(PKD1):c.8750C>T (p.Ala2917Val)
NM_001009944.3(PKD1):c.8780C>T (p.Thr2927Met)
NM_001009944.3(PKD1):c.9093G>T (p.Leu3031=)
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln)
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr) rs764817410
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=) rs767952529
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=) rs1555904427
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018113.3(FANCB):c.741C>A (p.Ile247=) rs760773732
NM_001031681.2(CTNS):c.*1213C>G rs142813435
NM_001031681.2(CTNS):c.*1230C>T rs112299490
NM_001031681.2(CTNS):c.*1268C>G rs112032534
NM_001031681.2(CTNS):c.*1300A>G rs112317698
NM_001031681.2(CTNS):c.*1501C>T rs111430685
NM_001031681.2(CTNS):c.*162G>A rs79668190
NM_001031681.2(CTNS):c.*1750G>A rs77196744
NM_001031681.2(CTNS):c.*190T>C rs1048646
NM_001031681.2(CTNS):c.*207A>G rs3826493
NM_001031681.2(CTNS):c.*262T>C rs1048647
NM_001031681.2(CTNS):c.*266T>C rs1048648
NM_001031681.2(CTNS):c.*350C>T rs1048649
NM_001031681.2(CTNS):c.*40G>A rs760273
NM_001031681.2(CTNS):c.*45A>G rs3826496
NM_001031681.2(CTNS):c.*486G>A rs75192283
NM_001031681.2(CTNS):c.*56T>C rs760274
NM_001031681.2(CTNS):c.*659C>T rs1048673
NM_001031681.2(CTNS):c.*660A>G rs1048674
NM_001031681.2(CTNS):c.*666_*668dup rs1355863772
NM_001031681.2(CTNS):c.*751C>T rs1048682
NM_001031681.2(CTNS):c.*752G>A rs78833685
NM_001031681.2(CTNS):c.*787A>G rs2235104
NM_001031681.2(CTNS):c.*800C>T rs112915401
NM_001031681.2(CTNS):c.*809_*810CT[1] rs397857879
NM_001031681.2(CTNS):c.-230+134A>G rs116000219
NM_001031681.2(CTNS):c.-230+40G>A rs17707869
NM_001031681.2(CTNS):c.-335C>T rs11657606
NM_001031681.2(CTNS):c.-397T>C rs111977802
NM_001031681.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_001031681.2(CTNS):c.141-4A>C rs1437667230
NM_001031681.2(CTNS):c.225+5_225+7dup rs1555561050
NM_001031681.2(CTNS):c.461+8C>T rs368822078
NM_001031681.2(CTNS):c.462T>C (p.Ser154=) rs77453839
NM_001031681.2(CTNS):c.504G>A (p.Thr168=) rs1800528
NM_001031681.2(CTNS):c.970+15G>A rs76153698
NM_001035511.2(SDHC):c.424G>A (p.Ala142Thr) rs182629842
NM_001035511.2(SDHC):c.430G>C (p.Glu144Gln) rs201210474
NM_001038.6(SCNN1A):c.*113C>T rs62620999
NM_001038.6(SCNN1A):c.*296C>T rs55981728
NM_001038.6(SCNN1A):c.*4G>A rs557017986
NM_001038.6(SCNN1A):c.*633G>T rs62618735
NM_001038.6(SCNN1A):c.*70T>C rs72657538
NM_001038.6(SCNN1A):c.*850C>T rs62627411
NM_001038.6(SCNN1A):c.*914A>G rs62619209
NM_001038.6(SCNN1A):c.*920C>T rs72657532
NM_001038.6(SCNN1A):c.-28T>C rs61759919
NM_001038.6(SCNN1A):c.-48A>G rs150809388
NM_001038.6(SCNN1A):c.-54-14C>T rs61758858
NM_001038.6(SCNN1A):c.-69C>T rs545108113
NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) rs569195112
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu) rs148749888
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) rs3764873
NM_001038.6(SCNN1A):c.1497+6G>C rs144275086
NM_001038.6(SCNN1A):c.1554-6C>T rs376456435
NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) rs72657550
NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=) rs199526819
NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=) rs370406973
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) rs144763378
NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) rs55859427
NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) rs55797039
NM_001038.6(SCNN1A):c.684+9C>T rs111317117
NM_001038.6(SCNN1A):c.876-13C>T rs201235216
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=) rs61731141
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=) rs13306619
NM_001039.4(SCNN1G):c.*1198A>T rs72647547
NM_001039.4(SCNN1G):c.*1261G>A rs8043698
NM_001039.4(SCNN1G):c.*1370G>A rs72647550
NM_001039.4(SCNN1G):c.*328G>A rs56153525
NM_001039.4(SCNN1G):c.*597dup rs566227302
NM_001039.4(SCNN1G):c.*979T>C rs540231207
NM_001039.4(SCNN1G):c.-23G>A rs762522517
NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) rs72647527
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) rs148985177
NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) rs745715995
NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) rs200985912
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) rs62639702
NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) rs145602271
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) rs546893551
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001042413.2(GLIS3):c.*1602T>G rs80030970
NM_001042413.2(GLIS3):c.*1760T>G rs116077269
NM_001042413.2(GLIS3):c.*1827T>G rs16919705
NM_001042413.2(GLIS3):c.*1832A>G rs10116901
NM_001042413.2(GLIS3):c.*2673dup rs147364042
NM_001042413.2(GLIS3):c.*2806G>A rs12351289
NM_001042413.2(GLIS3):c.*2813C>T rs77896717
NM_001042413.2(GLIS3):c.*2840dup rs142133114
NM_001042413.2(GLIS3):c.*2944T>C rs2297324
NM_001042413.2(GLIS3):c.*3012G>C rs35359206
NM_001042413.2(GLIS3):c.*3218A>C rs73640770
NM_001042413.2(GLIS3):c.*3377del rs202118987
NM_001042413.2(GLIS3):c.*3409G>A rs115222174
NM_001042413.2(GLIS3):c.*3692A>T rs75958174
NM_001042413.2(GLIS3):c.*663_*664dup rs5896025
NM_001042413.2(GLIS3):c.*711C>G rs4997836
NM_001042413.2(GLIS3):c.-270C>A rs73641408
NM_001042413.2(GLIS3):c.-681C>T rs138857227
NM_001042413.2(GLIS3):c.1126C>T (p.Pro376Ser) rs76342955
NM_001042413.2(GLIS3):c.1216G>T (p.Gly406Cys) rs75462592
NM_001042413.2(GLIS3):c.1536C>A (p.Asp512Glu) rs148199056
NM_001042413.2(GLIS3):c.171C>T (p.Asn57=) rs117802495
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
NM_001065.3(TNFRSF1A):c.-233C>T rs45537340
NM_001065.3(TNFRSF1A):c.-74G>A rs200084924
NM_001065.3(TNFRSF1A):c.-96C>T rs115164694
NM_001072.4(UGT1A6):c.993+15T>C rs4148327
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.798A>G (p.Val266=) rs772364535
NM_001079846.1(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_001079846.1(CREBBP):c.2079C>T (p.Asn693=) rs746813014
NM_001079846.1(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_001079846.1(CREBBP):c.7131C>T (p.Pro2377=) rs1555470758
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001098484.3(SLC4A4):c.*1377G>C rs3775157
NM_001098484.3(SLC4A4):c.*1945A>T rs375540927
NM_001098484.3(SLC4A4):c.*2028A>G rs72854478
NM_001098484.3(SLC4A4):c.*2346T>C rs369784676
NM_001098484.3(SLC4A4):c.*58del rs796456055
NM_001098484.3(SLC4A4):c.*628T>G rs368650087
NM_001098484.3(SLC4A4):c.*989T>A rs34921070
NM_001098484.3(SLC4A4):c.1014C>T (p.His338=) rs34373561
NM_001098484.3(SLC4A4):c.1683C>T (p.Ser561=) rs35169468
NM_001098484.3(SLC4A4):c.2941T>C (p.Leu981=) rs147261946
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.1278G>T (p.Leu426=) rs1060504377
NM_001113378.1(FANCI):c.1294-8C>T rs16942931
NM_001113378.1(FANCI):c.1294-9_1294-8insA rs1555445524
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.1680G>A (p.Gln560=) rs1181466139
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.2028C>T (p.Ala676=) rs16942969
NM_001113378.1(FANCI):c.2097C>T (p.Tyr699=) rs148415946
NM_001113378.1(FANCI):c.2170-4T>C rs1167442446
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3384G>A (p.Gln1128=) rs988319051
NM_001113378.1(FANCI):c.3652-9T>C rs971308997
NM_001113378.1(FANCI):c.3816+15A>T rs28493988
NM_001113378.1(FANCI):c.3834C>T (p.His1278=) rs1450412741
NM_001113378.1(FANCI):c.3846C>T (p.Ser1282=) rs34557339
NM_001113378.1(FANCI):c.756-4T>G rs1332788738
NM_001113378.1(FANCI):c.868G>A (p.Val290Met) rs113772230
NM_001113378.1(FANCI):c.976-13A>T rs145864790
NM_001113378.1(FANCI):c.993G>A (p.Lys331=) rs146916445
NM_001113378.2(FANCI):c.2636+11C>G
NM_001113378.2(FANCI):c.3652-70_3652-69del
NM_001114636.1(FANCL):c.1036-6T>C rs377052216
NM_001114636.1(FANCL):c.217-11T>C rs79588315
NM_001114636.1(FANCL):c.273+7A>C rs745366278
NM_001114636.1(FANCL):c.51C>G (p.Pro17=) rs772700022
NM_001114636.1(FANCL):c.685A>G (p.Thr229Ala) rs149731356
NM_001114636.1(FANCL):c.720C>T (p.Ser240=) rs1553435677
NM_001114636.1(FANCL):c.81A>C (p.Gly27=) rs1553459821
NM_001114636.1(FANCL):c.933T>C (p.Asp311=) rs1060504376
NM_001122764.3(PPOX):c.-128C>G rs72714915
NM_001122764.3(PPOX):c.-247C>A rs2301286
NM_001122764.3(PPOX):c.911G>A (p.Arg304His) rs36013429
NM_001126108.2(SLC12A3):c.*524del rs11347677
NM_001126108.2(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965
NM_001126112.2(TP53):c.*1070C>T rs114831472
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001126112.2(TP53):c.*205G>A rs16956880
NM_001126112.2(TP53):c.*485G>A rs4968187
NM_001126112.2(TP53):c.*569_*570del rs1555523911
NM_001126112.2(TP53):c.*613C>A rs17879353
NM_001126112.2(TP53):c.*826G>A rs17884306
NM_001126112.2(TP53):c.*936A>G rs55817367
NM_001126112.2(TP53):c.1023C>T (p.Phe341=) rs864622369
NM_001126112.2(TP53):c.1032G>A (p.Leu344=) rs752189180
NM_001126112.2(TP53):c.1032G>C (p.Leu344=) rs752189180
NM_001126112.2(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_001126112.2(TP53):c.108G>A (p.Pro36=) rs1800370
NM_001126112.2(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_001126112.2(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_001126112.2(TP53):c.1100+10C>T rs374041625
NM_001126112.2(TP53):c.1100+7G>A rs777374791
NM_001126112.2(TP53):c.111C>T (p.Ser37=) rs1555526798
NM_001126112.2(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_001126112.2(TP53):c.1149C>T (p.Leu383=) rs373710656
NM_001126112.2(TP53):c.135G>A (p.Leu45=) rs1060504164
NM_001126112.2(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_001126112.2(TP53):c.180A>C (p.Pro60=) rs749289195
NM_001126112.2(TP53):c.210T>C (p.Ala70=) rs786203513
NM_001126112.2(TP53):c.21T>A (p.Asp7Glu) rs587781277
NM_001126112.2(TP53):c.222C>T (p.Ala74=) rs786201577
NM_001126112.2(TP53):c.234A>G (p.Ala78=) rs375099397
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.249G>A (p.Ala83=) rs55754907
NM_001126112.2(TP53):c.255T>C (p.Pro85=) rs775515332
NM_001126112.2(TP53):c.279G>T (p.Leu93=) rs878854067
NM_001126112.2(TP53):c.282A>G (p.Ser94=) rs771721337
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.30C>G (p.Val10=) rs568171603
NM_001126112.2(TP53):c.30C>T (p.Val10=) rs568171603
NM_001126112.2(TP53):c.351G>A (p.Gly117=) rs876658998
NM_001126112.2(TP53):c.408A>G (p.Gln136=) rs758781593
NM_001126112.2(TP53):c.465C>A (p.Thr155=) rs786202992
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.560-11_560-8dup rs1555525931
NM_001126112.2(TP53):c.560-6T>C rs1555525929
NM_001126112.2(TP53):c.615T>C (p.Tyr205=) rs786202222
NM_001126112.2(TP53):c.639A>G (p.Arg213=) rs1800372
NM_001126112.2(TP53):c.642T>C (p.His214=) rs587781386
NM_001126112.2(TP53):c.657C>A (p.Pro219=) rs786201859
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.666G>T (p.Pro222=) rs72661118
NM_001126112.2(TP53):c.6G>A (p.Glu2=) rs143458271
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.74+8G>A rs776933919
NM_001126112.2(TP53):c.75-8T>C rs1555526938
NM_001126112.2(TP53):c.753C>T (p.Ile251=) rs878854074
NM_001126112.2(TP53):c.768A>G (p.Thr256=) rs786203563
NM_001126112.2(TP53):c.783-4G>A rs1060504160
NM_001126112.2(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001126112.2(TP53):c.849C>G (p.Arg283=) rs1555525197
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.885T>C (p.Pro295=) rs200073907
NM_001126112.2(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_001126112.2(TP53):c.916C>A (p.Arg306=) rs121913344
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001126112.2(TP53):c.919+8A>C rs1555525043
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126112.2(TP53):c.920-4C>G rs1555525022
NM_001126112.2(TP53):c.920-8T>C rs1555525024
NM_001126112.2(TP53):c.936C>G (p.Thr312=) rs1555524991
NM_001126112.2(TP53):c.942C>A (p.Ser314=) rs765930028
NM_001126112.2(TP53):c.97-6C>T rs35117667
NM_001126112.2(TP53):c.975A>G (p.Gly325=) rs1245012034
NM_001126112.2(TP53):c.993+12T>C rs1800899
NM_001126112.2(TP53):c.994-17C>T rs368691910
NM_001126112.2(TP53):c.994-6C>A rs1555524474
NM_001126113.2(TP53):c.*1422G>C rs17883782
NM_001126113.2(TP53):c.1015T>C (p.Cys339Arg) rs1642789
NM_001126113.2(TP53):c.1034_1036CGT[1] (p.Ser346del) rs1555524872
NM_001126114.2(TP53):c.1021T>G (p.Cys341Gly) rs3021068
NM_001126114.2(TP53):c.1025A>C (p.Ter342Ser) rs764562217
NM_001127500.3(MET):c.*1010G>T rs150534017
NM_001127500.3(MET):c.*1220G>A rs139535303
NM_001127500.3(MET):c.*1224C>T rs149713628
NM_001127500.3(MET):c.*1636C>T rs186175651
NM_001127500.3(MET):c.*1784T>A rs554029534
NM_001127500.3(MET):c.*1886T>A rs536185931
NM_001127500.3(MET):c.*1987C>T rs76322625
NM_001127500.3(MET):c.*2134T>A rs144156652
NM_001127500.3(MET):c.*2202G>A rs14456
NM_001127500.3(MET):c.*231T>G rs59399612
NM_001127500.3(MET):c.*385G>A rs181068390
NM_001127500.3(MET):c.*602C>T rs147343288
NM_001127500.3(MET):c.*655C>T rs563978117
NM_001127500.3(MET):c.*656G>A rs531456758
NM_001127500.3(MET):c.*76C>T rs527496385
NM_001127500.3(MET):c.*787G>A rs143472935
NM_001127500.3(MET):c.*87G>A rs41281081
NM_001127500.3(MET):c.*944A>G rs565768785
NM_001127500.3(MET):c.*984C>T rs573510587
NM_001127500.3(MET):c.-14-4G>A rs144126521
NM_001127500.3(MET):c.-7T>C rs863224376
NM_001127500.3(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_001127500.3(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_001127500.3(MET):c.1085T>C (p.Met362Thr) rs77523018
NM_001127500.3(MET):c.1306G>A (p.Glu436Lys) rs200740468
NM_001127500.3(MET):c.1365T>G (p.Leu455=) rs369639118
NM_001127500.3(MET):c.1393-2A>T
NM_001127500.3(MET):c.141C>G (p.Thr47=) rs864622222
NM_001127500.3(MET):c.144G>A (p.Ala48=) rs11762213
NM_001127500.3(MET):c.1485A>G (p.Thr495=) rs760256871
NM_001127500.3(MET):c.1528-9T>C rs767768257
NM_001127500.3(MET):c.1602C>A (p.Pro534=) rs1554391268
NM_001127500.3(MET):c.1641A>C (p.Arg547=) rs1554391313
NM_001127500.3(MET):c.1665A>G (p.Thr555=) rs1554391336
NM_001127500.3(MET):c.1702-8C>T rs1554394916
NM_001127500.3(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_001127500.3(MET):c.1812C>T (p.Leu604=) rs1412870024
NM_001127500.3(MET):c.1881T>G (p.Gly627=) rs200050499
NM_001127500.3(MET):c.1965+14T>C rs543293293
NM_001127500.3(MET):c.1973T>C (p.Val658Ala)
NM_001127500.3(MET):c.1992G>A (p.Pro664=) rs373842614
NM_001127500.3(MET):c.2073A>G (p.Ser691=) rs765318603
NM_001127500.3(MET):c.2103-1G>T rs1336351205
NM_001127500.3(MET):c.2103-2A>T
NM_001127500.3(MET):c.2220A>G (p.Glu740=) rs1554395720
NM_001127500.3(MET):c.2232C>G (p.Val744=) rs1060504944
NM_001127500.3(MET):c.2304A>C (p.Leu768=) rs201304108
NM_001127500.3(MET):c.2391G>A (p.Val797=) rs863224377
NM_001127500.3(MET):c.2419-21G>C
NM_001127500.3(MET):c.252C>T (p.Tyr84=)
NM_001127500.3(MET):c.2638-1G>T
NM_001127500.3(MET):c.2638-3C>T rs1337305891
NM_001127500.3(MET):c.2638-7del rs587780736
NM_001127500.3(MET):c.2638-8C>G rs370833501
NM_001127500.3(MET):c.2769C>T (p.Ser923=) rs45572835
NM_001127500.3(MET):c.2772G>A (p.Glu924=) rs752013993
NM_001127500.3(MET):c.2814T>C (p.Leu938=) rs1554398258
NM_001127500.3(MET):c.2823A>C (p.Val941=) rs371015065
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.3097T>G (p.Ser1033Ala) rs539345989
NM_001127500.3(MET):c.3285T>A (p.Ile1095=) rs1251215478
NM_001127500.3(MET):c.3354T>C (p.Asn1118=) rs1554399341
NM_001127500.3(MET):c.3399C>T (p.Ile1133=) rs1554399534
NM_001127500.3(MET):c.3576+12G>T rs200624981
NM_001127500.3(MET):c.3577-12C>G rs186524917
NM_001127500.3(MET):c.3577-6C>T rs1554400069
NM_001127500.3(MET):c.3686+42C>G
NM_001127500.3(MET):c.36C>T (p.Leu12=) rs188625702
NM_001127500.3(MET):c.3864C>T (p.Gly1288=) rs200865810
NM_001127500.3(MET):c.3870C>A (p.Leu1290=) rs757012119
NM_001127500.3(MET):c.390C>T (p.Leu130=) rs150588908
NM_001127500.3(MET):c.3921C>T (p.Thr1307=) rs587780532
NM_001127500.3(MET):c.3924T>C (p.Phe1308=) rs926365001
NM_001127500.3(MET):c.4128C>T (p.Asn1376=) rs772860611
NM_001127500.3(MET):c.4141G>A (p.Ala1381Thr) rs45578433
NM_001127500.3(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_001127500.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_001127500.3(MET):c.632T>G (p.Leu211Trp) rs45483396
NM_001127500.3(MET):c.669A>G (p.Lys223=) rs863224380
NM_001127500.3(MET):c.690G>T (p.Thr230=) rs200138253
NM_001127500.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_001127500.3(MET):c.813T>C (p.Ala271=) rs750586651
NM_001127500.3(MET):c.850A>G (p.Ile284Val) rs776014448
NM_001127500.3(MET):c.912A>G (p.Arg304=) rs762885066
NM_001127500.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_001127500.3(MET):c.959C>T (p.Ala320Val) rs35776110
NM_001127701.1(SERPINA1):c.*1703C>T rs877081
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.710T>C (p.Val237Ala) rs6647
NM_001127892.1(SALL1):c.*83_*87GCCCC[1] rs374006676
NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) rs113614842
NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) rs1555475414
NM_001127898.4(CLCN5):c.*1447T>G rs543285083
NM_001127898.4(CLCN5):c.*1470C>T rs186889927
NM_001127898.4(CLCN5):c.*1735T>C rs782712129
NM_001127898.4(CLCN5):c.*2324G>A rs782677531
NM_001127898.4(CLCN5):c.*2980A>G rs56147923
NM_001127898.4(CLCN5):c.*3495A>G rs183523710
NM_001127898.4(CLCN5):c.*349G>A rs111438914
NM_001127898.4(CLCN5):c.*4034A>T rs782274908
NM_001127898.4(CLCN5):c.*403_*406del rs782795406
NM_001127898.4(CLCN5):c.*4692C>T rs143625654
NM_001127898.4(CLCN5):c.*5140A>G rs182121138
NM_001127898.4(CLCN5):c.*559A>G rs375542213
NM_001127898.4(CLCN5):c.*6143C>T rs141665472
NM_001127898.4(CLCN5):c.*6217G>A rs781967731
NM_001127898.4(CLCN5):c.*6275_*6277GTA[3] rs782085954
NM_001127898.4(CLCN5):c.*6372T>C rs573740499
NM_001127898.4(CLCN5):c.*6538G>A rs781863818
NM_001127898.4(CLCN5):c.*869A>G rs139746970
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln) rs190451218
NM_001127898.4(CLCN5):c.1251A>G (p.Arg417=) rs782591993
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120
NM_001127898.4(CLCN5):c.164-2301G>A rs781805006
NM_001127898.4(CLCN5):c.164-2333T>G rs41310663
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648
NM_001128929.3(ROBO2):c.*1040T>G rs539305333
NM_001128929.3(ROBO2):c.*1052G>A rs535435438
NM_001128929.3(ROBO2):c.*1061C>T rs186113368
NM_001128929.3(ROBO2):c.*121G>A rs139789773
NM_001128929.3(ROBO2):c.*1290G>T rs568949141
NM_001128929.3(ROBO2):c.*1619dup rs530776423
NM_001128929.3(ROBO2):c.*1739A>G rs114621892
NM_001128929.3(ROBO2):c.*1950T>G rs543178648
NM_001128929.3(ROBO2):c.*1958C>T rs147850774
NM_001128929.3(ROBO2):c.*1959G>C rs183377310
NM_001128929.3(ROBO2):c.*2668T>G rs554356923
NM_001128929.3(ROBO2):c.*2675C>G rs183103458
NM_001128929.3(ROBO2):c.*2789G>A rs187992106
NM_001128929.3(ROBO2):c.*2819T>G rs191290792
NM_001128929.3(ROBO2):c.*2865T>C rs116956967
NM_001128929.3(ROBO2):c.*2964A>T rs1163749
NM_001128929.3(ROBO2):c.*3151A>G rs115587257
NM_001128929.3(ROBO2):c.*3183G>A rs73845747