ClinVar Miner

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

Included ClinVar conditions (1030):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5699
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
GRCh37/hg19 11q13.2(chr11:66290130-66305022)
GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1
GRCh37/hg19 2p13.1(chr2:73617393-73789869)
GRCh37/hg19 3q29(chr3:196033814-196033883)
GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1
GRCh38/hg38 11q13.2(chr11:66507369-66525103)
GRCh38/hg38 11q13.2(chr11:66520912-66526178)
GRCh38/hg38 11q13.2(chr11:66528892-66536798)
GRCh38/hg38 15q24.1(chr15:72708224-72714485)
GRCh38/hg38 15q24.1(chr15:72714229-72721948)
GRCh38/hg38 15q24.1(chr15:72714243-72720447)
GRCh38/hg38 16q13(chr16:56496014-56504285)
GRCh38/hg38 2q31.1(chr2:169498679-169508441)
GRCh38/hg38 3q11.2(chr3:97779512-97864516)
GRCh38/hg38 3q11.2(chr3:97790061-97794169)
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NC_000001.10:g.(?_161310384)_(161310445_?)dup
NC_000001.10:g.[5910699_6038368dup;6051187_6158763dup]
NC_000001.11:g.(?_161340584)_(161340665_?)dup
NC_000001.11:g.113112477_113112478del rs1570764426
NC_000002.12:g.(?_232329803)_(232336630_?)del
NC_000002.12:g.(?_232329803)_(232336640_?)del
NC_000002.12:g.(?_44280696)_(44346410_?)del
NC_000002.12:g.(?_58159755)_(58165884_?)del
NC_000002.12:g.169504481_169504487del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.104314621_104314622insG rs1578264146
NC_000004.12:g.5628611_5634201del
NC_000004.12:g.5752871_5756875del
NC_000006.12:g.(?_51619071)_(51791383_?)del
NC_000006.12:g.(?_51855873)_(51912596_?)dup
NC_000006.12:g.(?_51855883)_(51912586_?)dup
NC_000009.12:g.(?_95171069)_(95172157_?)dup
NC_000011.10:g.(?_103303073)_(103316640_?)del
NC_000011.10:g.(?_66529809)_(66532047_?)del
NC_000012.12:g.(?_109561020)_(109565196_?)del
NC_000012.12:g.(?_827032)_(862280_?)dup
NC_000012.12:g.(?_88058838)_(88061004_?)dup
NC_000013.11:g.(?_51937256)_(51939213_?)del
NC_000014.8:g.(?_45628293)_(45628489_?)dup
NC_000014.9:g.(?_45153910)_(45200018_?)del
NC_000014.9:g.(?_45159086)_(45159290_?)dup
NC_000014.9:g.(?_45198634)_(45200018_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.(?_2070436)_(2080397_?)dup
NC_000016.10:g.(?_2076471)_(2085342_?)del
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.10:g.(?_53656472)_(53687965_?)del
NC_000016.10:g.(?_89758567)_(89762032_?)dup
NC_000016.10:g.(?_89764807)_(89779967_?)del
NC_000016.10:g.(?_89764884)_(89779963_?)del
NC_000016.10:g.(?_89791393)_(89799648_?)del
NC_000016.10:g.2055492_2070804dup
NC_000016.10:g.2099923_2099925GAG[1]
NC_000016.10:g.2111466_2111468GCG[1]
NC_000016.10:g.89771677dup
NC_000016.9:g.(?_3634764)_(3634878_?)dup
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_89811357)_(89851382_?)dup
NC_000016.9:g.(?_89811367)_(89851372_?)dup
NC_000016.9:g.(?_89864654)_(89866056_?)dup
NC_000016.9:g.2155486_2155487ins2145304_2155487inv
NC_000017.10:g.(?_29540877)_(29563299_?)dup
NC_000017.10:g.(?_29652828)_(29657526_?)dup
NC_000017.10:g.(?_56798101)_(56798179_?)dup
NC_000017.10:g.(?_59861625)_(59937274_?)dup
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_7578171)_(7579918_?)dup
NC_000017.11:g.(?_17223916)_(17224149_?)del
NC_000017.11:g.(?_31169881)_(31249129_?)dup
NC_000017.11:g.(?_31248964)_(31352434_?)dup
NC_000017.11:g.(?_31248974)_(31352424_?)dup
NC_000017.11:g.(?_31336313)_(31340665_?)del
NC_000017.11:g.(?_31336323)_(31340655_?)del
NC_000017.11:g.(?_31342999)_(31360713_?)del
NC_000017.11:g.(?_58703186)_(58703339_?)dup
NC_000017.11:g.(?_58709849)_(58710000_?)del
NC_000017.11:g.(?_58709853)_(58709996_?)del
NC_000017.11:g.(?_58720736)_(58720822_?)dup
NC_000017.11:g.(?_58734108)_(58734232_?)del
NC_000017.11:g.(?_58734112)_(58734228_?)del
NC_000017.11:g.(?_61861441)_(61861545_?)del
NC_000017.11:g.(?_7668402)_(7669690_?)del
NC_000017.11:g.(?_7669599)_(7669700_?)del
NC_000017.11:g.(?_7669599)_(7670725_?)del
NC_000017.11:g.(?_7669603)_(7670721_?)del
NC_000017.11:g.(?_7674811)_(7676594_?)dup
NC_000017.11:g.(?_7674849)_(7676604_?)dup
NC_000017.11:g.42910914_42911426del
NC_000017.11:g.61801272_61805677del
NC_000019.10:g.35823999_35838548del
NC_000023.10:g.(?_132887489)_(132888223_?)dup
NC_000023.10:g.(?_132887499)_(132888213_?)dup
NC_000023.11:g.(?_101401237)_(101403995_?)dup
NC_000023.11:g.(?_14857852)_(14859344_?)del
NC_000023.11:g.18895137dup
NG_011977.1:g.1_264622del
NG_012059.2:g.1_302925del
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) rs180177156
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) rs180177157
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) rs180177161
NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro) rs180177161
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg) rs121908523
NM_000030.3(AGXT):c.122G>T (p.Gly41Val) rs180177168
NM_000030.3(AGXT):c.126dup (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) rs180177172
NM_000030.3(AGXT):c.221_227dup (p.Val77fs) rs180177183
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu) rs121908522
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) rs180177195
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) rs180177207
NM_000030.3(AGXT):c.423+1G>A rs1553648493
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) rs180177225
NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) rs180177227
NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) rs180177227
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.524+2T>A rs1553648568
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) rs180177235
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe) rs180177238
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) rs180177239
NM_000030.3(AGXT):c.577del (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) rs180177253
NM_000030.3(AGXT):c.673_676del (p.Lys225fs) rs1057516896
NM_000030.3(AGXT):c.681-1G>T rs112673831
NM_000030.3(AGXT):c.683_685AGA[1] (p.Lys229del) rs1553648979
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.698G>A (p.Arg233His) rs121908527
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) rs180177259
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) rs786204545
NM_000030.3(AGXT):c.776+2T>G rs1553649007
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.847-2_847-1del rs1553649375
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) rs180177292
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) rs180177294
NM_000030.3(AGXT):c.943-1G>T rs180177298
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) rs796052064
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly) rs128624215
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro) rs193922094
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs) rs1557055392
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr) rs1557052362
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.488G>A (p.Arg163His) rs1057517954
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser) rs1557052390
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn) rs864309520
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg) rs1603232195
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys) rs78340951
NM_000035.4(ALDOB):c.1007_1008delinsT (p.Cys336fs)
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.1095G>C (p.Ter365Tyr) rs900220679
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.112+1del rs1057516534
NM_000035.4(ALDOB):c.113-1G>A
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
NM_000035.4(ALDOB):c.287del (p.Asn96fs) rs1554702890
NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.324G>A (p.Lys108=) rs750026492
NM_000035.4(ALDOB):c.325-1G>A rs1402966846
NM_000035.4(ALDOB):c.356_359CAAA[1] (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.379+1G>A rs138121153
NM_000035.4(ALDOB):c.380-1G>A rs1554702666
NM_000035.4(ALDOB):c.380-2A>G rs1300461861
NM_000035.4(ALDOB):c.420del (p.Asp141fs) rs1057517421
NM_000035.4(ALDOB):c.444G>A (p.Trp148Ter) rs1057516902
NM_000035.4(ALDOB):c.541-277_651del
NM_000035.4(ALDOB):c.546del (p.Leu183fs) rs1057517091
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000035.4(ALDOB):c.625-2A>G rs786204503
NM_000035.4(ALDOB):c.712dup (p.His238fs) rs1554702425
NM_000035.4(ALDOB):c.800-2A>C rs199965465
NM_000035.4(ALDOB):c.812del (p.Leu271fs) rs1554702353
NM_000035.4(ALDOB):c.888G>A (p.Trp296Ter) rs1057517133
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268
NM_000035.4(ALDOB):c.940dup (p.Trp314fs) rs1554702328
NM_000035.4(ALDOB):c.941G>A (p.Trp314Ter) rs1554702325
NM_000035.4(ALDOB):c.964G>T (p.Glu322Ter) rs1172384674
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000051.3(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
NM_000053.3(ATP7B):c.-436_-422del15 rs1484840087
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1285+2T>A rs759749626
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) rs1566580253
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1947-19T>A rs1593733949
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2009_2010AT[3] (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2122-8T>G rs193922102
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) rs1180133690
NM_000053.4(ATP7B):c.2231_2232CT[1] (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2575+1G>C rs766149114
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2784_2786CAT[2] (p.Ile930del)
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2865+1G>A rs587783306
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg)
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3060+5G>T
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-2A>G
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) rs1555286633
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser)
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3243+1G>A rs748819198
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) rs1566468816
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) rs1566468784
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) rs1213481140
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Thr1232_Gln1233insLeuValHisTer)
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3741_3742insCA (p.Lys1248fs) rs1593646131
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4125-1G>C
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.52-1G>T rs1057517351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525del (p.Val176fs)
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000054.6(AVPR2):c.176T>C (p.Leu59Pro) rs193922112
NM_000054.6(AVPR2):c.290T>C (p.Leu97Pro) rs193922113
NM_000054.6(AVPR2):c.335G>T (p.Cys112Phe) rs1057518723
NM_000054.6(AVPR2):c.409C>G (p.Arg137Gly) rs104894761
NM_000054.6(AVPR2):c.424del (p.Cys142fs) rs193922114
NM_000054.6(AVPR2):c.472del (p.Arg158fs) rs193922115
NM_000054.6(AVPR2):c.554del (p.Gly185fs) rs193922116
NM_000054.6(AVPR2):c.673C>T (p.Gln225Ter) rs193922117
NM_000054.6(AVPR2):c.752_758del (p.Arg251fs) rs193922118
NM_000054.6(AVPR2):c.770del (p.Gly257fs) rs193922119
NM_000054.6(AVPR2):c.816G>A (p.Met272Ile) rs1603282342
NM_000054.6(AVPR2):c.819_821del (p.Leu274del) rs193922120
NM_000054.6(AVPR2):c.853G>C (p.Ala285Pro) rs193922122
NM_000054.6(AVPR2):c.963C>A (p.Asn321Lys) rs193922123
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000064.4(C3):c.2531A>G (p.Gln844Arg) rs1599510478
NM_000064.4(C3):c.3085G>A (p.Asp1029Asn) rs1599507415
NM_000064.4(C3):c.3908G>A (p.Arg1303His) rs775015499
NM_000064.4(C3):c.640C>T (p.Pro214Ser) rs794729228
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter) rs1203921376
NM_000067.3(CA2):c.681del (p.Lys227fs) rs779869368
NM_000075.4(CDK4):c.70C>A (p.Arg24Ser) rs11547328
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000075.4(CDK4):c.71G>T (p.Arg24Leu) rs104894340
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000085.4(CLCNKB):c.1897del (p.Thr632_Leu633insTer) rs863224858
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val) rs1570340095
NM_000091.4(COL4A3):c.1143_1150+1del rs1274459294
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.1315G>A (p.Gly439Ser) rs1553755124
NM_000091.4(COL4A3):c.1354G>A (p.Gly452Arg) rs772958162
NM_000091.4(COL4A3):c.1370_1378del (p.Leu457_Ser459del) rs1553755767
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1381G>C (p.Gly461Arg) rs1135401954
NM_000091.4(COL4A3):c.145-2_145-1del rs1491486533
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.4(COL4A3):c.1758+1G>A rs1553757096
NM_000091.4(COL4A3):c.1806_1814del (p.603_605SPG[1]) rs1444785718
NM_000091.4(COL4A3):c.1855G>A (p.Gly619Arg) rs773515249
NM_000091.4(COL4A3):c.1909G>A (p.Gly637Arg) rs761686437
NM_000091.4(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668
NM_000091.4(COL4A3):c.1927+2T>C rs1158937060
NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2002G>C (p.Gly668Arg) rs1559890352
NM_000091.4(COL4A3):c.205G>T (p.Glu69Ter) rs1574658390
NM_000091.4(COL4A3):c.2065G>A (p.Gly689Arg) rs1553758919
NM_000091.4(COL4A3):c.2215G>A (p.Gly739Arg) rs375040636
NM_000091.4(COL4A3):c.2223+1G>A rs1553759476
NM_000091.4(COL4A3):c.2284G>C (p.Gly762Arg) rs983885088
NM_000091.4(COL4A3):c.2323_2340del (p.772_774LPG[1]) rs1306992119
NM_000091.4(COL4A3):c.2328_2336del (p.772_774LPG[2]) rs1553759665
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.2535del (p.Leu846fs) rs993103826
NM_000091.4(COL4A3):c.2684G>A (p.Gly895Asp) rs1553760558
NM_000091.4(COL4A3):c.2747-1G>C rs1196996393
NM_000091.4(COL4A3):c.279+1G>A rs202001097
NM_000091.4(COL4A3):c.2838_2839delGA rs1553760802
NM_000091.4(COL4A3):c.2954G>T (p.Gly985Val) rs121912827
NM_000091.4(COL4A3):c.2981G>A (p.Gly994Asp) rs1574803132
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.309_317del (p.Ser104_Gly106del) rs1553750572
NM_000091.4(COL4A3):c.3148C>T (p.Gln1050Ter) rs1553762279
NM_000091.4(COL4A3):c.3210+1G>A rs1553762314
NM_000091.4(COL4A3):c.3211-1G>C rs1553762936
NM_000091.4(COL4A3):c.325-1G>A rs762518741
NM_000091.4(COL4A3):c.3257G>A (p.Gly1086Glu) rs1574813350
NM_000091.4(COL4A3):c.343G>A (p.Gly115Arg) rs202147112
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.3472G>C (p.Gly1158Arg) rs914878176
NM_000091.4(COL4A3):c.361G>A (p.Gly121Ser) rs778886174
NM_000091.4(COL4A3):c.3629G>A (p.Gly1210Glu) rs1574823355
NM_000091.4(COL4A3):c.3643C>T (p.Arg1215Ter) rs368434069
NM_000091.4(COL4A3):c.3682G>C (p.Gly1228Arg) rs1559913871
NM_000091.4(COL4A3):c.3751+1G>A rs781566652
NM_000091.4(COL4A3):c.388-1G>T rs1553750900
NM_000091.4(COL4A3):c.3883-2A>G rs1553765265
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4019G>A (p.Gly1340Glu) rs748901402
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000091.4(COL4A3):c.4546C>T (p.Arg1516Ter) rs759873621
NM_000091.4(COL4A3):c.4571C>G (p.Ser1524Ter) rs121912825
NM_000091.4(COL4A3):c.4640+1G>A rs1553766404
NM_000091.4(COL4A3):c.468+1G>A rs1553751122
NM_000091.4(COL4A3):c.468+1G>T rs1553751122
NM_000091.4(COL4A3):c.4756-1G>A rs1553766735
NM_000091.4(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000091.4(COL4A3):c.4802del (p.Pro1601fs) rs867868993
NM_000091.4(COL4A3):c.4803del (p.Gly1602fs) rs760846085
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4872C>G (p.Tyr1624Ter) rs1351781261
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.4(COL4A3):c.645+2T>C rs1553752199
NM_000091.4(COL4A3):c.663_664delAG rs1469479748
NM_000091.4(COL4A3):c.713dup (p.Pro240fs) rs988439345
NM_000091.4(COL4A3):c.764C>T (p.Thr255Met) rs573527081
NM_000091.4(COL4A3):c.829-2A>C rs1553753119
NM_000091.4(COL4A3):c.833dup (p.Pro279fs) rs1363680371
NM_000091.4(COL4A3):c.890G>A (p.Gly297Glu) rs1422638161
NM_000091.4(COL4A3):c.949_950del (p.Arg317fs) rs756133651
NM_000091.4:c.1900G>A;c.1927G>A
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1261G>A (p.Gly421Ser) rs1363441287
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg) rs1574753929
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2207G>T (p.Gly736Val)
NM_000091.5(COL4A3):c.2371C>T rs1060499654
NM_000091.5(COL4A3):c.2488_2488+2del
NM_000091.5(COL4A3):c.2489-1G>A rs1574782406
NM_000091.5(COL4A3):c.2584G>A (p.Gly862Ser) rs1574782666
NM_000091.5(COL4A3):c.2612G>A (p.Gly871Asp) rs1402894646
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
NM_000091.5(COL4A3):c.2878A>G (p.Lys960Glu) rs746766677
NM_000091.5(COL4A3):c.3312_3320AAGTCCTGG[1] (p.1105_1107SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3556G>C (p.Gly1186Arg) rs1305836268
NM_000091.5(COL4A3):c.388-2A>G
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
NM_000091.5(COL4A3):c.468+1del rs1553751120
NM_000091.5(COL4A3):c.519_520delinsAA (p.Gly174Arg) rs1574681401
NM_000091.5(COL4A3):c.680G>A (p.Gly227Glu) rs1574698507
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu) rs1574699782
NM_000091.5(COL4A3):c.725G>A rs1574699806
NM_000091.5(COL4A3):c.971G>A (p.Gly324Asp) rs566993466
NM_000092.4(COL4A4):c.1029+2T>C rs1553682895
NM_000092.4(COL4A4):c.1030-2A>C rs1553681714
NM_000092.4(COL4A4):c.1033_1050del (p.Asp345_Gly350del) rs990679247
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.114+1G>C rs1553712110
NM_000092.4(COL4A4):c.1327_1344del (p.Pro444_Leu449del) rs1203564054
NM_000092.4(COL4A4):c.1369+1G>A rs1553676230
NM_000092.4(COL4A4):c.1405G>T (p.Gly469Ter) rs926605269
NM_000092.4(COL4A4):c.1424G>T (p.Gly475Val) rs1559594442
NM_000092.4(COL4A4):c.1579G>T (p.Gly527Cys) rs779930511
NM_000092.4(COL4A4):c.1696+1G>A rs954701825
NM_000092.4(COL4A4):c.1696+1G>T rs954701825
NM_000092.4(COL4A4):c.1715G>C (p.Gly572Ala) rs1446915781
NM_000092.4(COL4A4):c.1828G>A (p.Gly610Ser) rs1559563525
NM_000092.4(COL4A4):c.1907G>A (p.Gly636Asp) rs1559563141
NM_000092.4(COL4A4):c.1935_1952del (p.Pro647_Val652del) rs1553658892
NM_000092.4(COL4A4):c.2084G>A (p.Gly695Asp) rs1553644402
NM_000092.4(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460
NM_000092.4(COL4A4):c.2279dup (p.Asp761fs) rs1553643669
NM_000092.4(COL4A4):c.2320G>C rs569681869
NM_000092.4(COL4A4):c.2374G>A (p.Gly792Arg) rs768003309
NM_000092.4(COL4A4):c.2510G>C (p.Gly837Ala) rs201648982
NM_000092.4(COL4A4):c.2546-1G>C rs1553641728
NM_000092.4(COL4A4):c.2590G>A (p.Gly864Arg) rs937550597
NM_000092.4(COL4A4):c.2662G>A (p.Gly888Arg) rs1363277825
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2967_2968delAG rs748473278
NM_000092.4(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652
NM_000092.4(COL4A4):c.3089G>A (p.Gly1030Asp) rs772699709
NM_000092.4(COL4A4):c.3151-2A>G rs1369097739
NM_000092.4(COL4A4):c.328-1G>A rs754669149
NM_000092.4(COL4A4):c.3307G>A (p.Gly1103Arg) rs749299357
NM_000092.4(COL4A4):c.3638G>T (p.Gly1213Val) rs1559455617
NM_000092.4(COL4A4):c.372+2T>G rs1553696207
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.4(COL4A4):c.3967C>T (p.Gln1323Ter) rs1489351299
NM_000092.4(COL4A4):c.4002_4005dup (p.His1336fs) rs1553624127
NM_000092.4(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.4(COL4A4):c.4090G>T (p.Gly1364Cys) rs1553622675
NM_000092.4(COL4A4):c.4333+2T>C rs755927061
NM_000092.4(COL4A4):c.436G>A (p.Gly146Ser) rs886055729
NM_000092.4(COL4A4):c.446G>T (p.Gly149Val) rs374815903
NM_000092.4(COL4A4):c.4599T>G (p.Tyr1533Ter) rs369922627
NM_000092.4(COL4A4):c.4623C>G (p.Tyr1541Ter) rs891854419
NM_000092.4(COL4A4):c.4679_4683del (p.Arg1560fs) rs1553612499
NM_000092.4(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549
NM_000092.4(COL4A4):c.4760del (p.Pro1587fs) rs1206142672
NM_000092.4(COL4A4):c.4809+1G>A rs1553612309
NM_000092.4(COL4A4):c.481G>C (p.Gly161Arg) rs755961411
NM_000092.4(COL4A4):c.4858G>A (p.Gly1620Ser) rs1271416659
NM_000092.4(COL4A4):c.4903C>T (p.Gln1635Ter) rs1553611947
NM_000092.4(COL4A4):c.4932delinsTT (p.Ala1645fs) rs1553611909
NM_000092.4(COL4A4):c.4948T>C (p.Phe1650Leu) rs1553611876
NM_000092.4(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724
NM_000092.4(COL4A4):c.559_562dup (p.Asp188Glyfs) rs1553690604
NM_000092.4(COL4A4):c.596G>T (p.Gly199Val) rs1559646395
NM_000092.4(COL4A4):c.644_646del (p.Glu215_Pro216delinsAla) rs1553688712
NM_000092.4(COL4A4):c.657+1G>T rs1553688696
NM_000092.4(COL4A4):c.673_680del (p.Pro225fs) rs1553688330
NM_000092.4(COL4A4):c.693G>A (p.Lys231=) rs1559644463
NM_000092.4(COL4A4):c.71G>A (p.Trp24Ter) rs1201925443
NM_000092.4(COL4A4):c.755G>T (p.Gly252Val) rs760795817
NM_000092.4(COL4A4):c.81_86del (p.27_28IL[1]) rs771943519
NM_000092.4(COL4A4):c.871-1G>C rs375450996
NM_000092.4(COL4A4):c.903dup (p.Gly302fs) rs1559628183
NM_000092.4(COL4A4):c.941G>T (p.Gly314Val) rs1005389790
NM_000092.4(COL4A4):c.975+1G>A rs1553683192
NM_000092.4(COL4A4):c.975+1G>C rs1553683192
NM_000092.5(COL4A4):c.1030-1G>C rs1559620132
NM_000092.5(COL4A4):c.1192_1195dup (p.Ala399fs)
NM_000092.5(COL4A4):c.1323_1340del rs773081522
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779
NM_000092.5(COL4A4):c.1578del (p.Gly527fs)
NM_000092.5(COL4A4):c.1580del (p.Gly527fs)
NM_000092.5(COL4A4):c.2940dup (p.Gly981fs)
NM_000092.5(COL4A4):c.3101C>A (p.Ser1034Ter) rs1576129421
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val)
NM_000092.5(COL4A4):c.3574_3577+8del rs1553627655
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000092.5(COL4A4):c.595G>T (p.Gly199Ter) rs750345987
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
NM_000092.5(COL4A4):c.836G>A (p.Gly279Glu)
NM_000092.5(COL4A4):c.854G>A (p.Gly285Glu)
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) rs1554879846
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000135.2(FANCA):c.1_2151+1del
NM_000135.2:c.523_2601del
NM_000135.2:c.894_2641del
NM_000135.4(FANCA):c.1006+1G>T rs1555564436
NM_000135.4(FANCA):c.1028_1029AG[3] (p.Glu345fs) rs769580546
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter) rs1484087361
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter) rs774026652
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys) rs148473140
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1470+1G>A rs1555556175
NM_000135.4(FANCA):c.1470+2T>C
NM_000135.4(FANCA):c.1474_1475CA[1] (p.Ile493fs) rs1555554788
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter) rs1555580427
NM_000135.4(FANCA):c.1715+1G>T rs1555552506
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102
NM_000135.4(FANCA):c.1776+1G>A rs756140957
NM_000135.4(FANCA):c.1777-1G>C rs755104393
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs) rs1555552006
NM_000135.4(FANCA):c.1826+2T>A
NM_000135.4(FANCA):c.1844dup (p.Ser616fs) rs779375100
NM_000135.4(FANCA):c.189+1G>A rs891323617
NM_000135.4(FANCA):c.190-1G>T rs765277254
NM_000135.4(FANCA):c.190-2A>T rs183350210
NM_000135.4(FANCA):c.1900+1G>T rs1598120768
NM_000135.4(FANCA):c.1901-1G>A rs1485075318
NM_000135.4(FANCA):c.1901-2A>G rs1555549535
NM_000135.4(FANCA):c.1944del (p.Glu648fs) rs1555549451
NM_000135.4(FANCA):c.1A>C (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu) rs772751654
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.2015-1G>A rs1555548632
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro) rs762526878
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs) rs754104046
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter) rs1555548512
NM_000135.4(FANCA):c.2151+2T>C rs937874201
NM_000135.4(FANCA):c.2164_2166CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2222+1G>C rs775388912
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414
NM_000135.4(FANCA):c.2317-1G>T rs1230207719
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.4(FANCA):c.2524del (p.Ser842fs) rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer) rs1555545553
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2667del (p.Ser890fs) rs1555545517
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe) rs1216426444
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile) rs879255255
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs) rs1555545421
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)
NM_000135.4(FANCA):c.283+1G>T rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.284-1G>C
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2852+2T>G rs766875860
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2853-2A>C rs947311062
NM_000135.4(FANCA):c.2910del (p.Gly972fs) rs1278836130
NM_000135.4(FANCA):c.2981+1G>A rs1555542860
NM_000135.4(FANCA):c.2982-1G>C rs1555540076
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs) rs1555540048
NM_000135.4(FANCA):c.2T>A (p.Met1Lys) rs769479800
NM_000135.4(FANCA):c.3066+1G>T rs587783028
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) rs1567603987
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3240-1G>A
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter) rs1439817346
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs) rs1555537347
NM_000135.4(FANCA):c.3408+1G>C rs1567601557
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3513+1G>A
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter) rs1381684916
NM_000135.4(FANCA):c.3602_3604AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs) rs1555536361
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.4(FANCA):c.3626+1G>C
NM_000135.4(FANCA):c.3626+1G>T rs34885858
NM_000135.4(FANCA):c.3696del (p.Phe1232fs) rs1555535527
NM_000135.4(FANCA):c.3745del (p.Leu1249fs) rs1555535472
NM_000135.4(FANCA):c.3755_3756AG[5] (p.Glu1255fs) rs868273545
NM_000135.4(FANCA):c.3765+2C>T
NM_000135.4(FANCA):c.3828+1G>A rs1432988639
NM_000135.4(FANCA):c.3828+1G>C rs1432988639
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs) rs1555534060
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3935-1G>A
NM_000135.4(FANCA):c.3935-1G>T rs1555533693
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309
NM_000135.4(FANCA):c.401dup (p.Val135fs) rs1555575253
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro) rs149851163
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter) rs940187828
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs) rs1555532946
NM_000135.4(FANCA):c.426+2T>G rs1598190568
NM_000135.4(FANCA):c.4260+1G>A rs1060501887
NM_000135.4(FANCA):c.4260+2T>A rs1555532943
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.513dup (p.Lys172fs) rs1555574913
NM_000135.4(FANCA):c.522+1G>T rs1365019056
NM_000135.4(FANCA):c.523-1G>T rs1477653630
NM_000135.4(FANCA):c.523-2A>G rs746518509
NM_000135.4(FANCA):c.596+2T>C rs1555573118
NM_000135.4(FANCA):c.597-1G>C rs147945881
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.709+1G>C rs753211631
NM_000135.4(FANCA):c.709+2T>C rs1555571116
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.709+5G>T rs759877008
NM_000135.4(FANCA):c.710-1G>C rs1388128874
NM_000135.4(FANCA):c.79+1G>A
NM_000135.4(FANCA):c.79+1G>C rs1483028018
NM_000135.4(FANCA):c.80-1G>T rs751076878
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487
NM_000135.4(FANCA):c.826+5_826+9del rs797045570
NM_000135.4(FANCA):c.827-1G>C rs753728435
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter) rs1291524243
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs) rs1348367722
NM_000135.4(FANCA):c.894-2A>G rs976556567
NM_000135.4(FANCA):c.912_913AC[2] (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000135.4(FANCA):c.989_995del (p.His330fs) rs1555564451
NM_000136.3(FANCC):c.-79+1G>A rs1228886763
NM_000136.3(FANCC):c.1037dup (p.Ser347fs) rs1057516248
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1072+1G>A rs1554830789
NM_000136.3(FANCC):c.1073-1G>C rs1554830249
NM_000136.3(FANCC):c.108_109dup (p.His37fs) rs1057517131
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs) rs1057516919
NM_000136.3(FANCC):c.1144del (p.Gln382fs) rs1057516313
NM_000136.3(FANCC):c.1151_1152del (p.His384fs) rs1554830220
NM_000136.3(FANCC):c.1155-1G>A rs1554829575
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078
NM_000136.3(FANCC):c.1175_1176AG[3] (p.Ser393fs) rs1554829561
NM_000136.3(FANCC):c.117del (p.Gln40fs) rs1057517147
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter) rs1554829555
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter) rs200719554
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter) rs766105286
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter) rs944083227
NM_000136.3(FANCC):c.1329+1G>T rs1554829441
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter) rs1057516298
NM_000136.3(FANCC):c.1385_1386TC[1] (p.Ala464fs) rs730881710
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter) rs1057516963
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter) rs1057516488
NM_000136.3(FANCC):c.1533+1G>C rs753885687
NM_000136.3(FANCC):c.1533+2T>C rs1057517170
NM_000136.3(FANCC):c.1534-1G>T rs1364238660
NM_000136.3(FANCC):c.1534-2A>G rs1554827166
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs) rs1554827159
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs) rs1554827136
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter) rs1057516455
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter) rs867319477
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.165+1del rs1554858249
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.220del (p.Ala74fs) rs1588350264
NM_000136.3(FANCC):c.251-2A>C rs1057517219
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer) rs777918411
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter) rs1057516384
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter) rs730881731
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.345+1G>A
NM_000136.3(FANCC):c.345+1del rs1057516247
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000136.3(FANCC):c.346-1G>T rs1484503633
NM_000136.3(FANCC):c.356_360del (p.Ser119fs) rs1060499606
NM_000136.3(FANCC):c.360_361TA[1] (p.Ile121fs) rs1588220728
NM_000136.3(FANCC):c.377_378del (p.Arg126fs) rs1564720637
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.3G>T (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.457-1G>T rs1057516917
NM_000136.3(FANCC):c.485_486GA[1] (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.485_486GA[2] (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.522-1G>C rs1014112491
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987
NM_000136.3(FANCC):c.5dup (p.Gln3fs) rs1268491295
NM_000136.3(FANCC):c.640dup (p.Ile214fs) rs1057517203
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000136.3(FANCC):c.686+1G>T rs1057517125
NM_000136.3(FANCC):c.687-1G>A rs1588134748
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter) rs776054094
NM_000136.3(FANCC):c.831del (p.Asp278fs) rs1057516792
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.843+1G>C rs587779909
NM_000136.3(FANCC):c.844-1G>C rs774209201
NM_000136.3(FANCC):c.896+1G>C rs1554833186
NM_000136.3(FANCC):c.896+2T>G rs863224441
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000136.3(FANCC):c.996+1G>T rs370510954
NM_000136.3(FANCC):c.996+1_996+2insGA
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.3(FAH):c.1063-2A>G rs1555442385
NM_000137.3(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.3(FAH):c.1181-1G>A rs1057516333
NM_000137.3(FAH):c.1190del (p.Gln397fs) rs786204551
NM_000137.3(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.3(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.3(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.193-2A>G rs1555440522
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.3(FAH):c.314+1G>A rs1057516408
NM_000137.3(FAH):c.315-2A>G rs1555440603
NM_000137.3(FAH):c.364+2T>G rs1595890740
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.3(FAH):c.438del (p.Asn146fs) rs779642226
NM_000137.3(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.3(FAH):c.456-2A>G rs1555441251
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.3(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.3(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.548_553+20del rs768180953
NM_000137.3(FAH):c.607-1G>A rs771712041
NM_000137.3(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.3(FAH):c.696C>T (p.Asn232=) rs533540262
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.3(FAH):c.776_777TC[2] (p.Pro261fs) rs1057517436
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.3(FAH):c.81+2T>C rs772895065
NM_000137.3(FAH):c.82-1G>A rs1247460110
NM_000137.3(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.3(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.3(FAH):c.960+1G>A rs1057517201
NM_000137.3(FAH):c.961-2A>C rs1555442289
NM_000137.3(FAH):c.963C>A (p.Tyr321Ter) rs886044640
NM_000137.3(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.1025dup (p.Asp344fs)
NM_000137.4(FAH):c.315-3C>G
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.606+1G>A
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385
NM_000138.4(FBN1):c.7274A>G (p.Tyr2425Cys) rs1057518809
NM_000140.4(FECH):c.1001C>T (p.Pro334Leu) rs150146721
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000140.4(FECH):c.854A>G (p.Gln285Arg) rs370708663
NM_000140.4(FECH):c.913G>T (p.Val305Phe) rs765518889
NM_000140.5(FECH):c.365del (p.Gln122fs) rs1599003455
NM_000140.5(FECH):c.47del (p.Gly16fs)
NM_000140.5(FECH):c.599-3C>T rs765069812
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.3(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.3(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000143.4(FH):c.224del (p.Ser75fs)
NM_000151.4(G6PC):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC):c.1051C>T (p.Gln351Ter)
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC):c.230+1G>C rs863224023
NM_000151.4(G6PC):c.231-1G>A rs1555559279
NM_000151.4(G6PC):c.241G>A (p.Gly81Arg) rs756632286
NM_000151.4(G6PC):c.258G>A (p.Trp86Ter) rs142917638
NM_000151.4(G6PC):c.323C>T (p.Thr108Ile) rs1597988331
NM_000151.4(G6PC):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC):c.446+1G>C rs1597989983
NM_000151.4(G6PC):c.446+2T>C rs1597989985
NM_000151.4(G6PC):c.447-1G>A rs1411037881
NM_000151.4(G6PC):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC):c.479G>A (p.Trp160Ter)
NM_000151.4(G6PC):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC):c.511del (p.Ile171fs) rs1597990895
NM_000151.4(G6PC):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC):c.526C>T (p.His176Tyr) rs1597990906
NM_000151.4(G6PC):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC):c.538C>T (p.Gln180Ter) rs1597990921
NM_000151.4(G6PC):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.61del (p.Gln20_Val21insTer)
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC):c.757del (p.Ile253fs)
NM_000151.4(G6PC):c.770C>A (p.Pro257His) rs1597991733
NM_000151.4(G6PC):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.821C>T (p.Ala274Val)
NM_000151.4(G6PC):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC):c.980_982del (p.Phe327del) rs80356486
NM_000154.2(GALK1):c.100_101GC[3] (p.Pro35fs) rs771067891
NM_000154.2(GALK1):c.1017T>A (p.Tyr339Ter) rs1026685248
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000154.2(GALK1):c.1A>C (p.Met1Leu) rs1311294794
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp) rs915070690
NM_000154.2(GALK1):c.410del (p.Gly137fs) rs767329054
NM_000154.2(GALK1):c.410dup (p.Gly138fs) rs767329054
NM_000154.2(GALK1):c.612-1G>A rs1555748556
NM_000154.2(GALK1):c.689_711dup (p.Val238fs) rs1555748534
NM_000154.2(GALK1):c.79G>T (p.Glu27Ter) rs1555748940
NM_000154.2(GALK1):c.853_874del (p.Ile285fs) rs770087254
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000154.2(GALK1):c.944+1G>T rs113464656
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1048del (p.Thr350fs) rs775762045
NM_000155.4(GALT):c.1052del (p.Pro351fs) rs111033813
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.1059+1G>T rs1554709516
NM_000155.4(GALT):c.1060-1G>A rs367543268
NM_000155.4(GALT):c.1140A>C (p.Ter380Cys) rs111033827
NM_000155.4(GALT):c.132del (p.Ser45fs) rs1554709139
NM_000155.4(GALT):c.14_23dup (p.Gln9fs) rs1554709110
NM_000155.4(GALT):c.164del (p.Gly55fs) rs1554709146
NM_000155.4(GALT):c.180del (p.Gln60fs) rs1554709148
NM_000155.4(GALT):c.189dup (p.Thr64fs) rs1554709151
NM_000155.4(GALT):c.18del (p.Asp7fs) rs111033638
NM_000155.4(GALT):c.238C>T (p.Arg80Ter) rs111033664
NM_000155.4(GALT):c.25C>T (p.Gln9Ter) rs111033848
NM_000155.4(GALT):c.290A>G (p.Asn97Ser) rs111033669
NM_000155.4(GALT):c.290A>T (p.Asn97Ile) rs111033669
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs) rs1587236467
NM_000155.4(GALT):c.2T>C (p.Met1Thr) rs771702963
NM_000155.4(GALT):c.307C>T (p.Gln103Ter) rs1225091358
NM_000155.4(GALT):c.378-2A>T rs1554709280
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) rs111033690
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.41delinsTT (p.Ala14fs) rs111033634
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.502G>A (p.Val168Met) rs367543258
NM_000155.4(GALT):c.502G>T (p.Val168Leu) rs367543258
NM_000155.4(GALT):c.508-1G>C rs398123181
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.513dup (p.Glu172Ter) rs886044409
NM_000155.4(GALT):c.561_564+9del rs1554709342
NM_000155.4(GALT):c.564+1G>A rs111033723
NM_000155.4(GALT):c.564+1G>T rs111033723
NM_000155.4(GALT):c.565-2A>G rs111033731
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.598C>T (p.Gln200Ter) rs1564101619
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.619C>T (p.Gln207Ter) rs111033743
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.627T>A (p.Tyr209Ter) rs1057516720
NM_000155.4(GALT):c.634C>T (p.Gln212Ter) rs111033746
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer) rs111033742
NM_000155.4(GALT):c.670del (p.Gln224fs) rs1057516883
NM_000155.4(GALT):c.687+1G>T rs193922250
NM_000155.4(GALT):c.688-1G>C
NM_000155.4(GALT):c.688-2A>C rs398123185
NM_000155.4(GALT):c.691C>G (p.Arg231Gly)
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.761dup (p.Leu255fs) rs747036550
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.83-2A>G rs1057517415
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del) rs1587240095
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter) rs1554709447
NM_000155.4(GALT):c.895G>A (p.Gly299Ser) rs1587240180
NM_000155.4(GALT):c.912dup (p.Thr305fs) rs746285782
NM_000155.4(GALT):c.938G>A (p.Trp313Ter) rs1410159094
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.957C>A (p.His319Gln) rs111033792
NM_000155.4(GALT):c.958G>A (p.Ala320Thr) rs111033795
NM_000155.4(GALT):c.959C>T (p.Ala320Val) rs367543272
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.979_986del (p.Leu327fs) rs1554709502
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.98G>A (p.Arg33His) rs111033829
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000165.5(GJA1):c.396_398del (p.Ile132_Lys133delinsMet)
NM_000168.6(GLI3):c.1028+1G>A rs1375768446
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) rs1562667078
NM_000169.2(GLA):c.1000-10G>A rs869312203
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.2(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.2(GLA):c.153G>T (p.Met51Ile)
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.640-1G>A rs398123216
NM_000169.2(GLA):c.640-1del rs1555985200
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.2(GLA):c.748C>A (p.Gln250Lys) rs398123221
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) rs869312430
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.961C>G (p.Gln321Glu)
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1201dup (p.Ser401fs)
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.413G>A (p.Gly138Glu)
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.476T>C (p.Phe159Ser) rs1555985814
NM_000169.3(GLA):c.484del (p.Trp162fs)
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
NM_000169.3(GLA):c.717A>G (p.Ile239Met)
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.801+1G>C
NM_000169.3(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.889T>C (p.Ser297Pro)
NM_000169.3(GLA):c.902dup (p.His302fs)
NM_000169.3(GLA):c.988del (p.Gln330fs)
NM_000186.3(CFH):c.3542T>C (p.Leu1181Ser) rs1573087200
NM_000186.3(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000186.4(CFH):c.2517C>A rs1362306576
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro)
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) rs34413634
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000190.4(HMBS):c.891dup (p.Thr298fs) rs1565758795
NM_000190.4(HMBS):c.958del (p.Ala320fs) rs1057518806
NM_000194.3(HPRT1):c.481G>A (p.Ala161Thr)
NM_000194.3(HPRT1):c.486-2A>G
NM_000194.3(HPRT1):c.564del (p.Val188_Val189insTer)
NM_000194.3(HPRT1):c.609dup (p.His204fs) rs1556030169
NM_000194.3(HPRT1):c.610C>G (p.His204Asp) rs137852490
NM_000194.3(HPRT1):c.610C>T (p.His204Tyr) rs137852490
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter) rs767128094
NM_000204.4(CFI):c.1165C>T (p.Arg389Cys) rs1292929833
NM_000204.4(CFI):c.310G>A (p.Gly104Arg) rs200419722
NM_000204.4(CFI):c.559C>T (p.Arg187Ter) rs368615806
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.3007_3013dup (p.Ser1005Ter) rs1568791694
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.82-1G>C
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000220.5(KCNJ1):c.1012C>T (p.Arg338Ter) rs377205432
NM_000220.5(KCNJ1):c.561del (p.Lys187fs) rs769554073
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.[2084A>G];[2230G>T]
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1064+2T>C rs1555164946
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.1267G>C (p.Asp423His) rs104894264
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1296T>A (p.Ser432Arg) rs1114167528
NM_000244.3(MEN1):c.1323G>T (p.Trp441Cys) rs398124435
NM_000244.3(MEN1):c.1326dup (p.Thr443fs) rs1555164184
NM_000244.3(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_000244.3(MEN1):c.1343C>A (p.Ser448Tyr) rs1060499981
NM_000244.3(MEN1):c.1365+2T>C rs1555164115
NM_000244.3(MEN1):c.1366-2A>G rs1060499986
NM_000244.3(MEN1):c.1754del (p.Thr585fs) rs864622617
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.473A>T (p.Asp158Val) rs1565648789
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.541G>C (p.Ala181Pro) rs376872829
NM_000244.3(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_000244.3(MEN1):c.664_669+2del rs386134258
NM_000244.3(MEN1):c.670-15_673del rs1592649598
NM_000244.3(MEN1):c.683T>C (p.Leu228Pro) rs886039415
NM_000244.3(MEN1):c.736T>C (p.Cys246Arg) rs1592649108
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.773C>G (p.Ser258Trp) rs386134259
NM_000244.3(MEN1):c.773C>T (p.Ser258Leu) rs386134259
NM_000244.3(MEN1):c.777_783dup (p.Leu262fs) rs1555165488
NM_000244.3(MEN1):c.799-1G>C rs1555165377
NM_000244.3(MEN1):c.866C>A (p.Ala289Glu) rs1565645563
NM_000244.3(MEN1):c.927+1G>C rs398124437
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261
NM_000245.4(MET):c.3281A>G (p.His1094Arg) rs121913243
NM_000254.2(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686
NM_000254.2(MTR):c.2305-1G>T
NM_000254.2(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000254.2(MTR):c.927+1G>C rs1572218599
NM_000255.4(MMUT):c.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1809-2A>T
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.1898T>G (p.Val633Gly) rs200055428
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-899A>G
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter) rs1554160638
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_000267.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_000267.3(NF1):c.1144del (p.Ser382fs) rs1135402802
NM_000267.3(NF1):c.1185G>A (p.Lys395=) rs1567835847
NM_000267.3(NF1):c.1186-1G>C rs876660782
NM_000267.3(NF1):c.122A>T (p.Glu41Val)
NM_000267.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_000267.3(NF1):c.1260+2T>G rs1555611110
NM_000267.3(NF1):c.1260+5G>C rs1060500253
NM_000267.3(NF1):c.128T>C (p.Leu43Pro) rs1555604899
NM_000267.3(NF1):c.1328T>C (p.Phe443Ser) rs1555611581
NM_000267.3(NF1):c.1340T>C (p.Leu447Pro) rs1597688896
NM_000267.3(NF1):c.1392+1del rs1060500347
NM_000267.3(NF1):c.1392+2T>C rs1555611610
NM_000267.3(NF1):c.1393-1G>A rs1131691131
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1393-1G>T rs1131691131
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1393-2A>T rs1555612266
NM_000267.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_000267.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+1G>C rs1060500331
NM_000267.3(NF1):c.1527+2T>C rs1064796700
NM_000267.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.15del (p.Arg5fs) rs1057516197
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1641+1G>A rs1555612866
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1641+2del rs1135402818
NM_000267.3(NF1):c.1642-1G>A rs1555613185
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1721+2T>G rs1567845116
NM_000267.3(NF1):c.1845+1_1845+5del rs1135402822
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2002-4_2010del rs878853871
NM_000267.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_000267.3(NF1):c.204+2T>G rs1597626161
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_000267.3(NF1):c.2251+1G>C rs1555613843
NM_000267.3(NF1):c.2251+2T>G rs864622142
NM_000267.3(NF1):c.2252-1G>T rs587781577
NM_000267.3(NF1):c.2252-1delG rs1597713259
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2326-1G>A rs1567848100
NM_000267.3(NF1):c.2326-1G>C rs1567848100
NM_000267.3(NF1):c.2326-2A>G rs1555613975
NM_000267.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_000267.3(NF1):c.2329T>G (p.Trp777Gly) rs876658853
NM_000267.3(NF1):c.2330G>C (p.Trp777Ser) rs199474745
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730
NM_000267.3(NF1):c.2375T>A (p.Leu792His) rs1597713777
NM_000267.3(NF1):c.2392A>C (p.Lys798Gln) rs1135402830
NM_000267.3(NF1):c.2410-16A>G rs1567848704
NM_000267.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp) rs1597629809
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000267.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_000267.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_000267.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_000267.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_000267.3(NF1):c.2850+2T>G rs1597715880
NM_000267.3(NF1):c.2850G>C (p.Gln950His) rs863224446
NM_000267.3(NF1):c.2851-1G>A rs1597716274
NM_000267.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_000267.3(NF1):c.2894T>G (p.Ile965Arg) rs1555614438
NM_000267.3(NF1):c.2990+1G>A rs1135402836
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2990G>A (p.Arg997Lys) rs1555614462
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.2991-3T>G rs1597716778
NM_000267.3(NF1):c.2991G>C (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.2991G>T (p.Arg997Ser) rs755501749
NM_000267.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_000267.3(NF1):c.3104T>A (p.Met1035Lys) rs137854553
NM_000267.3(NF1):c.3104T>G (p.Met1035Arg) rs137854553
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-1G>A rs1555614611
NM_000267.3(NF1):c.3114-2A>G rs1428885377
NM_000267.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_000267.3(NF1):c.3197+2del rs1597717694
NM_000267.3(NF1):c.3197+491_3384del
NM_000267.3(NF1):c.3198-2A>T rs1131691089
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_000267.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_000267.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_000267.3(NF1):c.3314+1G>A rs767805288
NM_000267.3(NF1):c.3314+2T>A rs863224445
NM_000267.3(NF1):c.3317A>G (p.Tyr1106Cys) rs1567850987
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_000267.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_000267.3(NF1):c.3378_3381dup (p.Gly1128fs) rs1597719490
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.3461A>T (p.Asn1154Ile) rs371544233
NM_000267.3(NF1):c.3468C>A (p.Asn1156Lys) rs147955381
NM_000267.3(NF1):c.3496G>A (p.Gly1166Ser) rs1597719704
NM_000267.3(NF1):c.3497-1G>A rs1555615004
NM_000267.3(NF1):c.3569G>A (p.Gly1190Asp) rs1555615032
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3596C>T (p.Thr1199Ile) rs1555615047
NM_000267.3(NF1):c.3641T>G (p.Met1214Arg) rs1567851416
NM_000267.3(NF1):c.3708+1G>T rs1420779915
NM_000267.3(NF1):c.3708+3A>T rs1555615114
NM_000267.3(NF1):c.3772T>C (p.Trp1258Arg) rs1597722508
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_000267.3(NF1):c.3790G>A (p.Glu1264Lys) rs863224660
NM_000267.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_000267.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.3870+1G>A rs1131691075
NM_000267.3(NF1):c.3871-1G>A rs1567852753
NM_000267.3(NF1):c.3974+2T>C rs1555615567
NM_000267.3(NF1):c.3975-1G>T rs1060500370
NM_000267.3(NF1):c.3G>A (p.Met1Ile) rs1598173737
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_000267.3(NF1):c.4111-1G>A rs1555618492
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4173A>C (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4173A>T (p.Arg1391Ser) rs137854554
NM_000267.3(NF1):c.4180A>C (p.Asn1394His) rs1555618518
NM_000267.3(NF1):c.4193T>A (p.Val1398Asp) rs1555618528
NM_000267.3(NF1):c.4253T>A (p.Leu1418Ter) rs1567862071
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4270-1G>A rs1418965797
NM_000267.3(NF1):c.4270-2A>C rs1555618634
NM_000267.3(NF1):c.4270-2A>G rs1555618634
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4288A>G (p.Asn1430Asp) rs1567862283
NM_000267.3(NF1):c.4310A>G (p.Glu1437Gly) rs878853894
NM_000267.3(NF1):c.4319T>A (p.Met1440Lys) rs754639587
NM_000267.3(NF1):c.4340T>G (p.Val1447Gly) rs1135402860
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4367+2T>C rs1555618693
NM_000267.3(NF1):c.4481A>G (p.Gln1494Arg) rs1135402865
NM_000267.3(NF1):c.4493G>A (p.Gly1498Glu) rs1567863004
NM_000267.3(NF1):c.4595del (p.Pro1532fs) rs1555619029
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4662-1G>A rs1555619391
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.4772+1G>T rs1085307819
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.479+1G>T rs1555606137
NM_000267.3(NF1):c.479G>C (p.Arg160Thr) rs199474752
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.5002dup (p.Tyr1668fs) rs1555533359
NM_000267.3(NF1):c.5009_5010delinsCCC (p.Lys1670fs) rs1555533363
NM_000267.3(NF1):c.5205+2T>G rs1555533416
NM_000267.3(NF1):c.5206-1G>C rs876660141
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.541_542del (p.Gln181fs) rs1135402790
NM_000267.3(NF1):c.5497_5499delinsT (p.Leu1833fs) rs1555533641
NM_000267.3(NF1):c.5508del (p.Ile1836fs) rs1135402874
NM_000267.3(NF1):c.5546+5G>A rs1597832498
NM_000267.3(NF1):c.5547-2A>G rs1135402876
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5600dup (p.Glu1868fs) rs1555533856
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.5717del (p.Leu1906fs) rs1135402880
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.5791T>C (p.Trp1931Arg) rs199474791
NM_000267.3(NF1):c.5795T>C (p.Leu1932Pro) rs199474792
NM_000267.3(NF1):c.586+2T>C rs1135402791
NM_000267.3(NF1):c.586+5G>A rs1060500284
NM_000267.3(NF1):c.587-2A>G rs1057518360
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.5944-?_6858+?del
NM_000267.3(NF1):c.60+1G>C rs1555594500
NM_000267.3(NF1):c.60+1G>T rs1555594500
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6084G>C (p.Lys2028Asn) rs1135402882
NM_000267.3(NF1):c.6085-1G>C rs1555534661
NM_000267.3(NF1):c.61-2A>G rs1131691100
NM_000267.3(NF1):c.6164_6165dup (p.Asp2056fs) rs1555534680
NM_000267.3(NF1):c.6241dup (p.Tyr2081fs) rs1555534712
NM_000267.3(NF1):c.6364G>A (p.Glu2122Lys) rs1555534775
NM_000267.3(NF1):c.6365-2A>C rs1060500312
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.6537del (p.Ser2180fs) rs1135402892
NM_000267.3(NF1):c.654+1G>T rs1060500245
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>A rs1060500345
NM_000267.3(NF1):c.6580-2A>G rs1597844547
NM_000267.3(NF1):c.6580-2A>T rs1597844547
NM_000267.3(NF1):c.6582del (p.Cys2195fs) rs1555534913
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608del (p.Lys2203fs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6622T>C (p.Trp2208Arg) rs1060500342
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6642-1G>A rs1060500356
NM_000267.3(NF1):c.6642-1G>C rs1060500356
NM_000267.3(NF1):c.6717_6728delinsATGAGAC (p.His2240_Ile2243delinsTer) rs1555534952
NM_000267.3(NF1):c.6747del (p.Ser2251fs) rs1135402893
NM_000267.3(NF1):c.6755A>T (p.Lys2252Met) rs1060500344
NM_000267.3(NF1):c.6756+1G>A rs1555534964
NM_000267.3(NF1):c.6756+2T>C rs1135402894
NM_000267.3(NF1):c.6757-1G>C rs1060500266
NM_000267.3(NF1):c.6770dup (p.Cys2257fs) rs1555535027
NM_000267.3(NF1):c.6792dup (p.Asn2265fs) rs1555535041
NM_000267.3(NF1):c.6858+1G>A rs1060500355
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858+3A>G rs1085307885
NM_000267.3(NF1):c.6858G>A (p.Lys2286=) rs1057523533
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6859-2A>G rs864622509
NM_000267.3(NF1):c.6889_6892del (p.Val2297fs) rs1555535163
NM_000267.3(NF1):c.68del (p.Ile23fs) rs1057518884
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306fs) rs1555535171
NM_000267.3(NF1):c.6999+2T>C rs1135402898
NM_000267.3(NF1):c.7027C>A (p.Arg2343=) rs1567620403
NM_000267.3(NF1):c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.7258+1G>T rs1135402903
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7395-17T>G
NM_000267.3(NF1):c.7395-7_7396delinsT rs1555536334
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7552+1G>T rs1555536380
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7690del (p.Ser2564fs) rs1555536685
NM_000267.3(NF1):c.7775dup (p.Lys2593fs) rs1131691129
NM_000267.3(NF1):c.7806+2T>G rs1555536724
NM_000267.3(NF1):c.7807-1G>A rs1567627138
NM_000267.3(NF1):c.7846C>T (p.Arg2616Ter) rs786201367
NM_000267.3(NF1):c.7909C>T (p.His2637Tyr) rs1555536868
NM_000267.3(NF1):c.8096del (p.Lys2699fs) rs1555537029
NM_000267.3(NF1):c.8097+1G>A rs1555537032
NM_000267.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_000267.3(NF1):c.862del (p.Val288fs) rs1135402797
NM_000267.3(NF1):c.888+1G>C rs1135402799
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_000267.3(NF1):c.989C>T (p.Ala330Val) rs1555610898
NM_000276.4(OCRL):c.1244+1338_1366del
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.2469+1G>A
NM_000276.4(OCRL):c.2470-1G>A rs1602820970
NM_000276.4(OCRL):c.560+1G>C rs1569458883
NM_000276.4(OCRL):c.741G>A (p.Trp247Ter)
NM_000276.4(OCRL):c.824G>C (p.Gly275Ala) rs1602783564
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
NM_000278.3(PAX2):c.221_226dupAGACCG (p.Thr75_Gly76insGluThr) rs387906530
NM_000278.5(PAX2):c.220del (p.Glu74fs) rs1589813539
NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)
NM_000278.5(PAX2):c.43+5G>A rs878853000
NM_000286.3(PEX12):c.1044_1046ACA[1] (p.Gln349del) rs267608184
NM_000286.3(PEX12):c.126+2T>A rs1555549902
NM_000286.3(PEX12):c.190_194del (p.Thr64fs) rs1214971073
NM_000286.3(PEX12):c.1_2del (p.Met1fs) rs1555549923
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter) rs767447750
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter) rs765404768
NM_000286.3(PEX12):c.223_224del (p.Leu75fs) rs1555549876
NM_000286.3(PEX12):c.268_271del (p.Lys90fs) rs61752100
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) rs776731688
NM_000286.3(PEX12):c.362_364TTC[2] (p.Leu123del) rs751058068
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
NM_000286.3(PEX12):c.445_454del (p.Ser149fs) rs1567730901
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter) rs1555549855
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter) rs888633730
NM_000286.3(PEX12):c.530_532AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter) rs61752106
NM_000286.3(PEX12):c.644del (p.Pro215fs) rs1199283977
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter) rs1555549841
NM_000286.3(PEX12):c.680+1G>A rs904972651
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000286.3(PEX12):c.684_687del (p.Ser229fs) rs62642859
NM_000286.3(PEX12):c.687_690del (p.Ser229fs) rs1555549769
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer) rs1238451790
NM_000286.3(PEX12):c.744dup (p.Thr249fs) rs61752108
NM_000286.3(PEX12):c.771del (p.Leu258fs) rs1555549754
NM_000286.3(PEX12):c.781del (p.Asp262fs) rs754193088
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter) rs747099919
NM_000286.3(PEX12):c.88_89del (p.Met30fs) rs1555549909
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer) rs398123302
NM_000286.3(PEX12):c.961_964del (p.Gly321fs) rs749650201
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter) rs941358133
NM_000287.4(PEX6):c.1046+1G>A rs1554127968
NM_000287.4(PEX6):c.1130+1G>A rs267608213
NM_000287.4(PEX6):c.1130+2T>C rs1416001981
NM_000287.4(PEX6):c.1233+1G>A rs763459576
NM_000287.4(PEX6):c.1234-1G>T rs1554127533
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter) rs1356280167
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter) rs1554127491
NM_000287.4(PEX6):c.1368-2del rs1554127415
NM_000287.4(PEX6):c.1479+2del rs1554127383
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro) rs61752140
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp) rs61753225
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.1841del (p.Leu614fs) rs863225083
NM_000287.4(PEX6):c.2082del (p.Gly695fs) rs766483138
NM_000287.4(PEX6):c.2094+1G>A rs1581760572
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser) rs1244339215
NM_000287.4(PEX6):c.2362+1G>A rs1443107232
NM_000287.4(PEX6):c.2362G>A (p.Val788Met) rs267608240
NM_000287.4(PEX6):c.2363-2A>C
NM_000287.4(PEX6):c.2364_2365del (p.Phe789Cysfs) rs755716911
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln) rs61753229
NM_000287.4(PEX6):c.2439dup (p.Arg814fs) rs1554126955
NM_000287.4(PEX6):c.2472-2A>G rs267608242
NM_000287.4(PEX6):c.2667-2A>G
NM_000287.4(PEX6):c.2692del (p.Leu898fs) rs1554126798
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter) rs1010184002
NM_000287.4(PEX6):c.2806+1G>A rs751900826
NM_000287.4(PEX6):c.2T>G (p.Met1Arg) rs1554128597
NM_000287.4(PEX6):c.311del (p.Gly104fs) rs61753209
NM_000287.4(PEX6):c.383_384GA[1] (p.Glu129fs) rs1554128501
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs) rs1561830903
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs) rs1554128488
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs) rs1554128586
NM_000287.4(PEX6):c.462del (p.Leu155fs) rs1554128476
NM_000287.4(PEX6):c.504_505AG[1] (p.Glu169fs) rs1554128461
NM_000287.4(PEX6):c.510dup (p.Gly171fs) rs1491384052
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) rs61753219
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.188+1G>C rs267608254
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.363_526+230del rs1582744649
NM_000288.4(PEX7):c.418-1G>C
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.736_747+17del rs1057517257
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1042-1G>A
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.2518-1G>A
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.285+2_285+5del
NM_000292.3(PHKA2):c.3283-1G>C
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle)
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro) rs762089284
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577
NM_000295.4(SERPINA1):c.721A>T (p.Lys241Ter) rs199422211
NM_000295.5(SERPINA1):c.1018del (p.Ala340fs) rs1057516929
NM_000295.5(SERPINA1):c.1066-1G>T rs1555367897
NM_000295.5(SERPINA1):c.1073A>G (p.His358Arg) rs1555367891
NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) rs764325655
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.5(SERPINA1):c.169T>C (p.Phe57Leu) rs1457464431
NM_000295.5(SERPINA1):c.186C>A (p.Tyr62Ter) rs762321137
NM_000295.5(SERPINA1):c.1A>G (p.Met1Val) rs1057516555
NM_000295.5(SERPINA1):c.21G>A (p.Trp7Ter) rs370038282
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) rs199422210
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000295.5(SERPINA1):c.646+2T>C rs112661131
NM_000295.5(SERPINA1):c.646G>T (p.Gly216Cys) rs756773408
NM_000295.5(SERPINA1):c.654G>A (p.Trp218Ter) rs1445192595
NM_000295.5(SERPINA1):c.714del (p.Thr239fs) rs1057516448
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898
NM_000295.5(SERPINA1):c.958A>C (p.Thr320Pro) rs746155701
NM_000297.4(PKD2):c.1094+3_1094+6del rs1553925470
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser) rs886041114
NM_000297.4(PKD2):c.1623_1626del (p.Asp541fs) rs1560617356
NM_000297.4(PKD2):c.1807dup (p.Met603fs) rs1578141765
NM_000297.4(PKD2):c.1898+5G>A rs1553926929
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2246_2247insGCCATACTGG (p.His750fs) rs1578147458
NM_000297.4(PKD2):c.295G>T (p.Glu99Ter) rs1578111378
NM_000297.4(PKD2):c.481_502del (p.Gly161fs) rs1553923513
NM_000297.4(PKD2):c.691dup (p.Leu231fs) rs1553924174
NM_000297.4(PKD2):c.693del (p.Leu231_Ile232insTer) rs1578118371
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln) rs145877597
NM_000297.4(PKD2):c.974G>A (p.Arg325Gln)
NM_000297.4(PKD2):c.982_984del (p.Asn328del)
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter) rs200065382
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer) rs764771123
NM_000318.3(PEX2):c.354_355del (p.Arg119fs) rs1554584505
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter) rs61752124
NM_000318.3(PEX2):c.472del (p.Leu158fs) rs1554584487
NM_000318.3(PEX2):c.502_503del (p.Glu168fs) rs1554584474
NM_000318.3(PEX2):c.829_833TACTT[1] (p.Phe278fs) rs267608188
NM_000336.3(SCNN1B):c.1074C>A (p.Tyr358Ter) rs1182475940
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr) rs1555466999
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser) rs896545456
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033
NM_000340.2(SLC2A2):c.775+1G>A rs756874949
NM_000341.4(SLC3A1):c.1275_1276dup (p.Glu426fs) rs797044609
NM_000341.4(SLC3A1):c.1744T>C (p.Tyr582His) rs776729515
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000341.4(SLC3A1):c.430+2T>G rs1558450604
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145
NM_000349.3(STAR):c.296_297AG[1] (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000368.4(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.4(TSC1):c.106+2T>C rs1554820976
NM_000368.4(TSC1):c.1439-1G>A rs397514804
NM_000368.4(TSC1):c.1439-2A>G rs118203531
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.4(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.1998-1G>C rs118203614
NM_000368.4(TSC1):c.211-1G>T rs118203353
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.232G>T (p.Glu78Ter) rs1588355838
NM_000368.4(TSC1):c.2391+1G>C rs1060503224
NM_000368.4(TSC1):c.2502+2_2502+9del rs1588298866
NM_000368.4(TSC1):c.2625+367A>G rs1564474542
NM_000368.4(TSC1):c.2626-2A>C rs118203717
NM_000368.4(TSC1):c.2626-2A>G rs118203717
NM_000368.4(TSC1):c.2814-2A>G rs1588290111
NM_000368.4(TSC1):c.363+1G>A rs118203372
NM_000368.4(TSC1):c.364-1G>C rs118203376
NM_000368.4(TSC1):c.508+1G>C rs118203390
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.737+2T>C rs1564497308
NM_000368.4(TSC1):c.738-2_740del rs1554817707
NM_000368.4(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.1141+1G>A
NM_000368.5(TSC1):c.125T>A (p.Val42Glu)
NM_000368.5(TSC1):c.1439-1G>C
NM_000368.5(TSC1):c.1531dup (p.Ser511fs)
NM_000368.5(TSC1):c.2042-177_2266del
NM_000368.5(TSC1):c.2813+2T>G
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.363+2_363+5del
NM_000368.5(TSC1):c.378_379insCGT (p.Val127_Val128insArg)
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061
NM_000379.4(XDH):c.1602+1G>A rs376882470
NM_000379.4(XDH):c.1686+1G>C rs148412639
NM_000379.4(XDH):c.3440C>G (p.Ser1147Ter) rs1553411468
NM_000383.4(AIRE):c.1002del (p.Trp335fs) rs769305771
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>A rs1022025101
NM_000383.4(AIRE):c.1095+2T>C rs760280615
NM_000383.4(AIRE):c.1116_1117del (p.Ala373fs) rs1057516411
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672
NM_000383.4(AIRE):c.1203_1278+28del
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs) rs1555872997
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1278+1del rs996389327
NM_000383.4(AIRE):c.1279-2A>G rs1555873087
NM_000383.4(AIRE):c.1470dup (p.Ser491fs) rs1555873248
NM_000383.4(AIRE):c.1476_1479CGCC[1] (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1490del (p.Pro497fs) rs750764323
NM_000383.4(AIRE):c.1503+1G>T
NM_000383.4(AIRE):c.1566+2T>A rs1057516985
NM_000383.4(AIRE):c.1566+2dup rs1057516811
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258
NM_000383.4(AIRE):c.20_24del (p.Leu7fs) rs1555871777
NM_000383.4(AIRE):c.233G>A (p.Trp78Ter) rs1057516499
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter) rs1057516225
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro)
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.268T>C (p.Tyr90His) rs1555871902
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs) rs1555871928
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs) rs1057516314
NM_000383.4(AIRE):c.463+2T>C rs786204478
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418
NM_000383.4(AIRE):c.464-2A>T rs1032171597
NM_000383.4(AIRE):c.512_516dup (p.Gln173fs) rs1555872060
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886
NM_000383.4(AIRE):c.652+1G>T rs199612115
NM_000383.4(AIRE):c.652+2T>C rs1555872272
NM_000383.4(AIRE):c.798+1G>A rs138489664
NM_000383.4(AIRE):c.798+1G>C rs138489664
NM_000383.4(AIRE):c.798+1G>T rs138489664
NM_000383.4(AIRE):c.809_810del (p.Glu270fs) rs1057517268
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878
NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) rs386833674
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.977del (p.Pro326fs) rs1057517011
NM_000392.5(ABCC2):c.1967+1G>A rs146405172
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000443.4(ABCB4):c.1119+5G>A rs1584750653
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) rs863225298
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) rs1584747270
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575
NM_000443.4(ABCB4):c.2784-12T>C rs201498350
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) rs121918440
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.345-1G>T
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.458A>G (p.His153Arg) rs1598848762
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.896G>A (p.Trp299Ter) rs1598840996
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del) rs1574706907
NM_000466.3(PEX1):c.1072_1073GA[1] (p.Lys359fs) rs1057517488
NM_000466.3(PEX1):c.1076del (p.Lys359fs) rs1057517465
NM_000466.3(PEX1):c.1108del (p.Ile370fs) rs61750406
NM_000466.3(PEX1):c.1131del (p.Asp378fs) rs886043479
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer) rs1057517520
NM_000466.3(PEX1):c.1239+1G>A rs756876301
NM_000466.3(PEX1):c.130-1G>C rs1028247729
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter) rs1585248089
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter) rs1554373801
NM_000466.3(PEX1):c.1439del (p.Leu480fs) rs1554373787
NM_000466.3(PEX1):c.1499_1500CT[1] (p.Leu501fs) rs786204743
NM_000466.3(PEX1):c.1522dup (p.Glu508fs) rs1057517463
NM_000466.3(PEX1):c.1527del (p.Glu510fs) rs1057517497
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter) rs754983126
NM_000466.3(PEX1):c.1587+1G>A rs1057517469
NM_000466.3(PEX1):c.1587+2T>C rs1554373578
NM_000466.3(PEX1):c.1670+1G>A rs1057517490
NM_000466.3(PEX1):c.1670+1G>T rs1057517490
NM_000466.3(PEX1):c.1714_1715CA[1] (p.His572fs) rs786204606
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del) rs1554372756
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter) rs1057517489
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter) rs1408895107
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs) rs1554372561
NM_000466.3(PEX1):c.1842del (p.Glu615fs) rs267608176
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer) rs1398892633
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter) rs61750409
NM_000466.3(PEX1):c.1900+1G>A
NM_000466.3(PEX1):c.1900+2T>C rs1562857198
NM_000466.3(PEX1):c.1908del (p.Arg636fs) rs1057517478
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter) rs1057517464
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs) rs1057517529
NM_000466.3(PEX1):c.1927del (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1927dup (p.Thr643fs) rs1554372180
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs) rs1057517486
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000466.3(PEX1):c.1A>C (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.1A>T (p.Met1Leu) rs1057517501
NM_000466.3(PEX1):c.2032_2033CA[1] (p.His678fs) rs61750412
NM_000466.3(PEX1):c.2071+2T>C rs1478905473
NM_000466.3(PEX1):c.2072-42_2085del
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter) rs1057517468
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs) rs1057517499
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter) rs398123409
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2387_2388TC[2] (p.Arg798fs) rs61750414
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2489dup (p.Asn830fs) rs1554370868
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter) rs1057517470
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter) rs1057517485
NM_000466.3(PEX1):c.2719-2A>G rs1554369234
NM_000466.3(PEX1):c.2723del (p.Pro908fs) rs1057517503
NM_000466.3(PEX1):c.273+1G>A rs1554376597
NM_000466.3(PEX1):c.2730del (p.Leu910fs) rs61750423
NM_000466.3(PEX1):c.2760del (p.Ala921fs) rs1256376226
NM_000466.3(PEX1):c.2783+2T>C rs1585224312
NM_000466.3(PEX1):c.2798dup (p.Pro934fs) rs1057517484
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp) rs866184460
NM_000466.3(PEX1):c.2852dup (p.His951fs) rs767877383
NM_000466.3(PEX1):c.2859dup (p.Thr954fs) rs1057517472
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.2916del (p.Gly973fs) rs61750426
NM_000466.3(PEX1):c.2922del (p.Leu974fs) rs762324548
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.2926+2T>C rs267608180
NM_000466.3(PEX1):c.2927-2A>G rs1057517531
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr) rs61750427
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) rs61750428
NM_000466.3(PEX1):c.2T>C (p.Met1Thr) rs766020928
NM_000466.3(PEX1):c.2T>G (p.Met1Arg) rs766020928
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000466.3(PEX1):c.3180dup (p.Gly1061fs)
NM_000466.3(PEX1):c.3207+2C>A rs1554368097
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs) rs1057517509
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs) rs886043558
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer) rs1554367358
NM_000466.3(PEX1):c.3438+1G>T rs1554367284
NM_000466.3(PEX1):c.3451_3452CT[2] (p.Ser1152fs) rs759183382
NM_000466.3(PEX1):c.3451_3452CT[4] (p.Ala1153fs) rs759183382
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter) rs1057517487
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter) rs1057517480
NM_000466.3(PEX1):c.357+1G>A rs866144313
NM_000466.3(PEX1):c.357+202_1170del
NM_000466.3(PEX1):c.3573del (p.Glu1191fs) rs1585211048
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter) rs1057517467
NM_000466.3(PEX1):c.3578_3579GA[1] (p.Asp1194fs) rs1160117945
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000466.3(PEX1):c.358-2A>C rs1057517500
NM_000466.3(PEX1):c.358-2A>G rs1057517500
NM_000466.3(PEX1):c.3626del (p.Ser1209fs) rs1554366766
NM_000466.3(PEX1):c.3689_3692GTCA[1] (p.Gln1231fs) rs769836601
NM_000466.3(PEX1):c.3G>A (p.Met1Ile) rs786204704
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter) rs201415996
NM_000466.3(PEX1):c.431dup (p.Val145fs) rs1057517506
NM_000466.3(PEX1):c.472+1G>A rs762852144
NM_000466.3(PEX1):c.473-1G>A rs1554375661
NM_000466.3(PEX1):c.473-1G>C rs1554375661
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter) rs149806989
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter) rs1554375599
NM_000466.3(PEX1):c.573del (p.Ala192fs) rs1585255490
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter) rs762679408
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969
NM_000466.3(PEX1):c.643_647del (p.Thr215fs) rs786204544
NM_000466.3(PEX1):c.734del (p.Leu245fs) rs1057517522
NM_000466.3(PEX1):c.760dup (p.Ser254fs) rs1554375511
NM_000466.3(PEX1):c.782_783del (p.Gln261fs) rs749067142
NM_000466.3(PEX1):c.888_889TA[6] (p.Asn299delinsIleTer) rs1057517505
NM_000466.3(PEX1):c.909_910CT[1] (p.Ser304fs) rs786204638
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro) rs386134262
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro) rs1060499835
NM_000486.5(AQP2):c.223T>G (p.Cys75Gly) rs193922494
NM_000486.5(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000486.5(AQP2):c.560G>A (p.Arg187His) rs193922495
NM_000486.5(AQP2):c.563C>T (p.Ser188Phe) rs1131690792
NM_000486.5(AQP2):c.785del (p.Pro262fs) rs193922496
NM_000486.6(AQP2):c.526-1G>T rs749468605
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) rs1057516192
NM_000497.3(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786
NM_000497.3(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418
NM_000497.3(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023
NM_000497.3(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.3(CYP11B1):c.125C>T (p.Pro42Leu) rs193922538
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1361G>A (p.Arg454His) rs367634557
NM_000497.3(CYP11B1):c.1398+2T>C rs577022490
NM_000497.3(CYP11B1):c.147del (p.Trp49fs) rs748867146
NM_000497.3(CYP11B1):c.168G>A (p.Trp56Ter) rs1383321200
NM_000497.3(CYP11B1):c.217C>T (p.Gln73Ter) rs1554653675
NM_000497.3(CYP11B1):c.264G>A (p.Met88Ile) rs193922539
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.304C>T (p.Gln102Ter) rs1554653551
NM_000497.3(CYP11B1):c.395+1G>C rs1554653514
NM_000497.3(CYP11B1):c.413G>A (p.Arg138His) rs193922540
NM_000497.3(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749
NM_000497.3(CYP11B1):c.45G>A (p.Trp15Ter) rs1554653714
NM_000497.3(CYP11B1):c.55C>T (p.Gln19Ter) rs763195324
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000497.3(CYP11B1):c.799+1G>C rs1554652990
NM_000497.3(CYP11B1):c.799+2T>C rs193922541
NM_000497.3(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.3(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573
NM_000497.3(CYP11B1):c.917C>T (p.Ala306Val) rs387907572
NM_000497.3(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.3(CYP11B1):c.955-1G>A rs1456715954
NM_000497.3(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer)
NM_000500.7:c.*28699080dupT
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn) rs1554305880
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn) rs1429901248
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs) rs779791105
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs) rs886038207
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs) rs1582298980
NM_000500.9(CYP21A2):c.254del (p.Lys85fs) rs1582300748
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly) rs1554304513
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val) rs1582305275
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser) rs182942340
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr) rs1582307951
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg) rs1582307951
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.749_750insGTGT (p.Ser251fs) rs1586244371
NM_000516.6(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000516.6(GNAS):c.880C>T (p.Gln294Ter) rs863224876
NM_000517.6(HBA2):c.268_280del (p.His90fs) rs1596570041
NM_000518.4(HBB):c.-77_-76delAA rs63750953
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.*110_*111del rs63750205
NM_000518.5(HBB):c.*111A>G rs63751128
NM_000518.5(HBB):c.*113A>G rs33985472
NM_000518.5(HBB):c.-136C>T rs33994806
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-137C>G rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-138C>T rs33944208
NM_000518.5(HBB):c.-140C>T rs34999973
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.147del (p.Ser50fs) rs1554917947
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) rs193922552
NM_000518.5(HBB):c.201del (p.Val68fs) rs193922553
NM_000518.5(HBB):c.203_204del (p.Val68fs) rs34282684
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.226del (p.Leu76fs) rs34218908
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.2T>A (p.Met1Lys) rs33941849
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.30dup (p.Ala11fs)
NM_000518.5(HBB):c.315+1G>C rs33945777
NM_000518.5(HBB):c.315+2T>G rs63750283
NM_000518.5(HBB):c.315+2del rs1564874813
NM_000518.5(HBB):c.316-1G>T rs33952266
NM_000518.5(HBB):c.316-3C>A rs33913413
NM_000518.5(HBB):c.316-7C>A rs34483965
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.64dup (p.Asp22fs) rs1554918165
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.85dup (p.Leu29fs) rs35532010
NM_000518.5(HBB):c.91A>C (p.Arg31=) rs35684407
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000518.5(HBB):c.93-15T>G rs35456885
NM_000529.2(MC2R):c.437G>A (p.Arg146His) rs758709668
NM_000537.4(REN):c.47T>A (p.Leu16His) rs121917743
NM_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.375+1dupG rs1555526470
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.96+1G>A
NM_000546.6(TP53):c.96+2T>A
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1120-1del
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2_1257+3del rs1596303814
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1559_1560AC[3] (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1792T>C (p.Tyr598His) rs45517201
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) rs397515199
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup)
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1947-2A>C
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.225+1G>A rs1567387207
NM_000548.5(TSC2):c.225+2T>C
NM_000548.5(TSC2):c.2318dup (p.Leu773fs) rs1596350476
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del)
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2545+5G>C rs1131691965
NM_000548.5(TSC2):c.2546-1G>C rs45468292
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.335_336+14del rs1596259720
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-2A>G rs397515169
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.4006-15_4048del
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) rs1555497690
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4569+1G>T rs1060500972
NM_000548.5(TSC2):c.4569+2T>A rs1555514984
NM_000548.5(TSC2):c.4569+2T>G rs1555514984
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
NM_000548.5(TSC2):c.4662+1G>C
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5067_5068+8del rs1567128655
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5140del (p.Gln1714fs) rs878854115
NM_000548.5(TSC2):c.5160+4A>C rs45517403
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.599+2T>G rs45484992
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.976-207_1191del
NM_000551.3(VHL):c.-75_-55del rs727503744
NM_000551.3(VHL):c.189dup (p.Arg64fs) rs1553619402
NM_000551.3(VHL):c.192del (p.Ser65fs) rs730882031
NM_000551.3(VHL):c.193T>G (p.Ser65Ala) rs869025616
NM_000551.3(VHL):c.214T>C (p.Ser72Pro) rs869025618
NM_000551.3(VHL):c.232A>T (p.Asn78Tyr) rs869025621
NM_000551.3(VHL):c.233A>C (p.Asn78Thr) rs5030804
NM_000551.3(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.3(VHL):c.242C>T (p.Pro81Leu) rs193922608
NM_000551.3(VHL):c.256C>G (p.Pro86Ala) rs398123481
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.264G>T (p.Trp88Cys) rs869025622
NM_000551.3(VHL):c.266T>A (p.Leu89His) rs5030807
NM_000551.3(VHL):c.269A>T (p.Asn90Ile) rs143985153
NM_000551.3(VHL):c.277G>C (p.Gly93Arg) rs5030808
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.3(VHL):c.311_340+20del rs869025629
NM_000551.3(VHL):c.320G>A (p.Arg107His) rs193922609
NM_000551.3(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.331A>G (p.Ser111Gly) rs1559426203
NM_000551.3(VHL):c.333C>G (p.Ser111Arg) rs765978945
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.336C>G (p.Tyr112Ter) rs751232153
NM_000551.3(VHL):c.340+1G>C rs730882032
NM_000551.3(VHL):c.341-25_370dup rs1553619923
NM_000551.3(VHL):c.344A>G (p.His115Arg) rs5030812
NM_000551.3(VHL):c.345C>A (p.His115Gln) rs864622646
NM_000551.3(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.3(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.3(VHL):c.370A>G (p.Thr124Ala) rs1559428091
NM_000551.3(VHL):c.371C>T (p.Thr124Ile) rs193922610
NM_000551.3(VHL):c.392A>G (p.Asn131Ser) rs1553619963
NM_000551.3(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.3(VHL):c.430G>T (p.Gly144Ter) rs869025650
NM_000551.3(VHL):c.458T>A (p.Leu153Gln) rs193922611
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.486C>A (p.Cys162Ter) rs5030622
NM_000551.3(VHL):c.488T>C (p.Leu163Pro) rs28940297
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.500G>C (p.Arg167Pro) rs5030821
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.524A>G (p.Tyr175Cys) rs193922613
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.563T>A (p.Leu188Gln) rs1559429824
NM_000551.3(VHL):c.563T>C (p.Leu188Pro) rs1559429824
NM_000551.3(VHL):c.571C>G (p.His191Asp) rs28940301
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_000551.3(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000551.3(VHL):c.641G>T (p.Ter214Leu) rs869025668
NM_000551.3(VHL):c.642A>G (p.Ter214Trp) rs1559430011
NM_000551.3(VHL):c.642A>T (p.Ter214Cys) rs1559430011
NM_000551.4(VHL):c.160A>T (p.Met54Leu)
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.4(VHL):c.340+770T>C rs1346312258
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.419_427delinsACAATTATTTGTGCCATCTCTCAA (p.Leu140_Asp143delinsHisAsnTyrLeuCysHisLeuSerAsn) rs1559428180
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.463+2T>G rs5030814
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.483del (p.Cys162fs)
NM_000551.4(VHL):c.508G>C (p.Val170Leu) rs1553620326
NM_000551.4(VHL):c.547del (p.Ser183fs) rs1559429778
NM_000551.4(VHL):c.565del (p.Glu189fs) rs1559429829
NM_000551.4(VHL):c.640T>A (p.Ter214Arg) rs1575932781
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter)
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys) rs886041121
NM_000782.5(CYP24A1):c.1039C>T (p.Gln347Ter) rs777947329
NM_000782.5(CYP24A1):c.3G>T (p.Met1Ile) rs781367354
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1017+1G>A
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672
NM_000784.4(CYP27A1):c.1178_1179CT[1] (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter) rs1559391480
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter) rs1057519469
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356