NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)
|
rs121908823
|
0.00264
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)
|
rs35152987
|
0.00158
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)
|
rs121908819
|
0.00073
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)
|
rs104894072
|
0.00011
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00011
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00009
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_000383.4(AIRE):c.1203_1278+28del
|
rs1568929576
|
0.00008
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)
|
rs121908824
|
0.00006
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00004
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000498.3(CYP11B2):c.1398+1G>A
|
rs539836429
|
0.00004
|
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_017849.4(TMEM127):c.245-1G>C
|
rs121908821
|
0.00004
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)
|
rs762245736
|
0.00003
|
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)
|
rs375892072
|
0.00003
|
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)
|
rs765921219
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_004168.4(SDHA):c.1741G>A (p.Gly581Arg)
|
rs771111180
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)
|
rs754637718
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)
|
rs1204814114
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000349.3(STAR):c.745-1G>C
|
rs374297649
|
0.00002
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
0.00001
|
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)
|
rs397509434
|
0.00001
|
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys)
|
rs121917780
|
0.00001
|
NM_000198.4(HSD3B2):c.1064G>A (p.Trp355Ter)
|
rs767128094
|
0.00001
|
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)
|
rs28934880
|
0.00001
|
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)
|
rs80358221
|
0.00001
|
NM_000349.3(STAR):c.229C>T (p.Gln77Ter)
|
rs781281145
|
0.00001
|
NM_000349.3(STAR):c.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
0.00001
|
NM_000383.4(AIRE):c.1278+1G>A
|
rs1184559866
|
0.00001
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
0.00001
|
NM_000383.4(AIRE):c.1566+2T>A
|
rs1057516985
|
0.00001
|
NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys)
|
rs386833673
|
0.00001
|
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp)
|
rs747941115
|
0.00001
|
NM_000383.4(AIRE):c.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000383.4(AIRE):c.275G>A (p.Arg92Gln)
|
rs1288735234
|
0.00001
|
NM_000383.4(AIRE):c.308-1G>C
|
rs764588340
|
0.00001
|
NM_000383.4(AIRE):c.463+2T>C
|
rs786204478
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
NM_000383.4(AIRE):c.62C>T (p.Ala21Val)
|
rs179363886
|
0.00001
|
NM_000383.4(AIRE):c.637C>T (p.Gln213Ter)
|
rs1029475010
|
0.00001
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter)
|
rs267606755
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His)
|
rs367634557
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)
|
rs193922539
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro)
|
rs387907573
|
0.00001
|
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val)
|
rs387907572
|
0.00001
|
NM_000497.4(CYP11B1):c.955-1G>A
|
rs1456715954
|
0.00001
|
NM_000498.3(CYP11B2):c.1200+1G>A
|
rs761385416
|
0.00001
|
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter)
|
rs1817612031
|
0.00001
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000529.2(MC2R):c.437G>A (p.Arg146His)
|
rs758709668
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
NM_001105247.2(ARMC5):c.1787T>G (p.Leu596Arg)
|
rs2082338123
|
0.00001
|
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)
|
rs761102084
|
0.00001
|
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)
|
rs1085307471
|
0.00001
|
NM_001395413.1(POR):c.179+2T>C
|
rs936203749
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)
|
rs202101384
|
0.00001
|
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)
|
rs587782243
|
0.00001
|
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)
|
rs778952116
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.540G>A (p.Leu180=)
|
rs528442805
|
0.00001
|
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)
|
rs200245469
|
0.00001
|
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)
|
rs138996609
|
0.00001
|
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)
|
rs1131691058
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003002.4(SDHD):c.53-1G>T
|
rs1291507545
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp)
|
rs9809219
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs)
|
rs750865703
|
0.00001
|
NM_004168.4(SDHA):c.1909-2A>G
|
rs747939816
|
0.00001
|
NM_004168.4(SDHA):c.562C>T (p.Arg188Trp)
|
rs553257776
|
0.00001
|
NM_004168.4(SDHA):c.778G>A (p.Gly260Arg)
|
rs940845256
|
0.00001
|
NM_004168.4(SDHA):c.818C>T (p.Thr273Ile)
|
rs587781720
|
0.00001
|
NM_004168.4(SDHA):c.923C>T (p.Thr308Met)
|
rs1457666982
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.37-1G>C
|
rs761956866
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)
|
rs121908818
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NC_000001.10:g.(?_161310384)_(161310445_?)dup
|
|
|
NC_000001.10:g.(?_161326457)_(161326640_?)dup
|
|
|
NC_000001.10:g.(?_17349093)_(17350579_?)del
|
|
|
NC_000001.10:g.(?_17349097)_(17359646_?)dup
|
|
|
NC_000001.10:g.(?_17354234)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17359545)_(17359650_?)dup
|
|
|
NC_000001.10:g.(?_17371256)_(17371383_?)dup
|
|
|
NC_000001.11:g.(?_161340584)_(161340665_?)dup
|
|
|
NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
|
|
|
NC_000011.9:g.(?_61205087)_(61213543_?)del
|
|
|
NC_000023.10:g.(?_153002694)_153020558del
|
|
|
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
|
|
|
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)
|
rs1603233120
|
|
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
|
rs2091726796
|
|
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
|
rs2091726809
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
|
|
|
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_000033.4(ABCD1):c.1081+1G>C
|
|
|
NM_000033.4(ABCD1):c.1082-1G>A
|
rs1557054153
|
|
NM_000033.4(ABCD1):c.10dup (p.Leu4fs)
|
rs2091702447
|
|
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
|
|
|
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)
|
rs1603234466
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
|
rs1569541006
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
|
|
|
NM_000033.4(ABCD1):c.125del (p.Pro42fs)
|
rs2148388674
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1394-2_1404del
|
|
|
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)
|
rs2148396070
|
|
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
|
|
|
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
|
|
|
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)
|
rs2091753125
|
|
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
|
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
|
rs2091762267
|
|
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
|
|
|
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
|
|
|
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)
|
rs2148397545
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
|
|
|
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)
|
rs2148397558
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)
|
rs2148397565
|
|
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
|
|
|
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
|
|
|
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
|
rs2091763089
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
|
rs2091764526
|
|
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
|
|
|
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)
|
rs2148397936
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
|
|
|
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
|
rs1603235421
|
|
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
|
rs2091764754
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
|
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1781-2A>G
|
|
|
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
|
rs2091772331
|
|
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)
|
rs1557055260
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)
|
rs2148399060
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-1G>A
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)
|
rs2148399208
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
|
rs1603236012
|
|
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
|
|
|
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
|
|
|
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.1988T>C (p.Leu663Pro)
|
rs886044882
|
|
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)
|
rs1557055398
|
|
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)
|
rs1569541207
|
|
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)
|
rs1557055405
|
|
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)
|
rs2091775375
|
|
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
|
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)
|
rs868953385
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
|
|
|
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
|
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
|
rs1569540688
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
|
|
|
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
|
|
|
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)
|
rs1557052351
|
|
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)
|
rs1603231911
|
|
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
|
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
|
|
|
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
|
|
|
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
|
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
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.488G>T (p.Arg163Leu)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
|
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro)
|
rs2091708025
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
|
rs2091708534
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
|
rs2091708827
|
|
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)
|
rs2091709142
|
|
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
|
|
|
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
|
rs2091709198
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
|
|
|
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del)
|
rs2091710358
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
|
rs2091710960
|
|
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
|
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
|
|
|
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
|
rs1569540665
|
|
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
|
|
|
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
|
|
|
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)
|
rs2091711473
|
|
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)
|
rs1557052555
|
|
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
|
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)
|
rs2148389975
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)
|
rs1603232237
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-9_903del
|
rs2148391889
|
|
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)
|
rs2091726242
|
|
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)
|
rs2091726251
|
|
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)
|
rs2148391915
|
|
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
|
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
|
|
|
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
|
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000102.4(CYP17A1):c.1117C>A (p.His373Asn)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
|
|
|
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
|
|
|
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)
|
rs367833709
|
|
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu)
|
rs1554879846
|
|
NM_000102.4(CYP17A1):c.1244-1G>C
|
|
|
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
|
|
|
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
|
|
|
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
|
|
|
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)
|
rs371825363
|
|
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
|
|
|
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
|
|
|
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1486C>T (p.Arg496Cys)
|
rs1250463562
|
|
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
|
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
|
|
|
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)
|
rs1590204913
|
|
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.437-1G>A
|
|
|
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)
|
rs752540777
|
|
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
|
|
|
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
|
|
|
NM_000102.4(CYP17A1):c.666+2T>C
|
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
|
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
|
|
|
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
|
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
|
|
|
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
|
|
|
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
|
|
|
NM_000176.3(NR3C1):c.1185-2A>G
|
|
|
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)
|
rs1453036708
|
|
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)
|
rs905880501
|
|
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
|
|
|
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
|
|
|
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
|
|
|
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
|
|
|
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)
|
rs756663759
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
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.203del (p.Tyr68fs)
|
|
|
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
|
|
|
NM_000349.3(STAR):c.229del (p.Gln77fs)
|
|
|
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
|
|
|
NM_000349.3(STAR):c.298_299del (p.Gln101fs)
|
rs765904696
|
|
NM_000349.3(STAR):c.306+1G>A
|
|
|
NM_000349.3(STAR):c.307-1G>A
|
rs2130614519
|
|
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
|
|
|
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
|
|
|
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
|
|
|
NM_000349.3(STAR):c.503dup (p.His168fs)
|
|
|
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.611_612del (p.Thr204fs)
|
|
|
NM_000349.3(STAR):c.629_630del (p.Pro210fs)
|
rs771895449
|
|
NM_000349.3(STAR):c.64+2T>C
|
rs1298369560
|
|
NM_000349.3(STAR):c.650+1G>A
|
rs1563267767
|
|
NM_000349.3(STAR):c.651-1G>C
|
rs749626865
|
|
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
|
|
|
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.801dup (p.Ala268fs)
|
rs1554502663
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
|
|
|
NM_000349.3(STAR):c.97del (p.Gln33fs)
|
|
|
NM_000383.4(AIRE):c.1002del (p.Trp335fs)
|
rs769305771
|
|
NM_000383.4(AIRE):c.1034_1036delinsA (p.Val345fs)
|
|
|
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.1116_1117del (p.Ala373fs)
|
rs1057516411
|
|
NM_000383.4(AIRE):c.1121del (p.Gly374fs)
|
|
|
NM_000383.4(AIRE):c.1122_1123insCTGTCTCTTATACACATCT (p.Glu375delinsLeuSerLeuIleHisIleTer)
|
|
|
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs)
|
rs2146375213
|
|
NM_000383.4(AIRE):c.1209_1213dup (p.Pro405fs)
|
rs1555872997
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1257T>A (p.Cys419Ter)
|
rs2040561421
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
|
|
|
NM_000383.4(AIRE):c.1278+1del
|
rs996389327
|
|
NM_000383.4(AIRE):c.1279-2A>G
|
rs1555873087
|
|
NM_000383.4(AIRE):c.1311C>A (p.Cys437Ter)
|
|
|
NM_000383.4(AIRE):c.131A>C (p.Gln44Pro)
|
|
|
NM_000383.4(AIRE):c.132+2T>C
|
|
|
NM_000383.4(AIRE):c.1398dup (p.Gly467fs)
|
|
|
NM_000383.4(AIRE):c.1400+1G>A
|
rs1469386000
|
|
NM_000383.4(AIRE):c.1400+2T>C
|
|
|
NM_000383.4(AIRE):c.1401-1G>A
|
|
|
NM_000383.4(AIRE):c.1406del (p.Gly469fs)
|
rs2146385757
|
|
NM_000383.4(AIRE):c.1470dup (p.Ser491fs)
|
rs1555873248
|
|
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)
|
rs1057517072
|
|
NM_000383.4(AIRE):c.1490del (p.Pro497fs)
|
rs750764323
|
|
NM_000383.4(AIRE):c.1503+1G>A
|
|
|
NM_000383.4(AIRE):c.1503+1G>T
|
rs1156582406
|
|
NM_000383.4(AIRE):c.1566+2dup
|
rs1057516811
|
|
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)
|
rs1057516272
|
|
NM_000383.4(AIRE):c.173C>G (p.Ala58Gly)
|
rs747941115
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
|
|
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.23G>A (p.Arg8His)
|
|
|
NM_000383.4(AIRE):c.242T>C (p.Leu81Pro)
|
|
|
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)
|
rs121434255
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.255C>A (p.Tyr85Ter)
|
rs1057516225
|
|
NM_000383.4(AIRE):c.25C>T (p.Arg9Trp)
|
rs1942959342
|
|
NM_000383.4(AIRE):c.260T>C (p.Leu87Pro)
|
rs2040485564
|
|
NM_000383.4(AIRE):c.260del (p.Leu87fs)
|
rs1057517428
|
|
NM_000383.4(AIRE):c.268T>C (p.Tyr90His)
|
rs1555871902
|
|
NM_000383.4(AIRE):c.278T>A (p.Leu93Gln)
|
|
|
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)
|
rs179363884
|
|
NM_000383.4(AIRE):c.290T>C (p.Leu97Pro)
|
rs2146375951
|
|
NM_000383.4(AIRE):c.307+2T>G
|
rs2146375964
|
|
NM_000383.4(AIRE):c.319_321delinsTG (p.Ser107fs)
|
rs1555871928
|
|
NM_000383.4(AIRE):c.328del (p.Arg110fs)
|
rs1162316051
|
|
NM_000383.4(AIRE):c.43C>G (p.Arg15Gly)
|
rs179363875
|
|
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys)
|
rs179363875
|
|
NM_000383.4(AIRE):c.44G>A (p.Arg15His)
|
rs179363876
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.457_458delinsC (p.Ser153fs)
|
rs1057516314
|
|
NM_000383.4(AIRE):c.464-2A>T
|
rs1032171597
|
|
NM_000383.4(AIRE):c.46A>G (p.Thr16Ala)
|
|
|
NM_000383.4(AIRE):c.481A>T (p.Lys161Ter)
|
rs2040495130
|
|
NM_000383.4(AIRE):c.487_489delinsA (p.Pro163fs)
|
|
|
NM_000383.4(AIRE):c.496_497insA (p.Pro166fs)
|
|
|
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)
|
rs940485051
|
|
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.539-2A>G
|
rs2146377702
|
|
NM_000383.4(AIRE):c.54C>G (p.Ile18Met)
|
|
|
NM_000383.4(AIRE):c.619G>T (p.Glu207Ter)
|
|
|
NM_000383.4(AIRE):c.61del (p.Ala21fs)
|
|
|
NM_000383.4(AIRE):c.652+2T>C
|
rs1555872272
|
|
NM_000383.4(AIRE):c.685del (p.Glu229fs)
|
|
|
NM_000383.4(AIRE):c.708_709del (p.Phe236fs)
|
|
|
NM_000383.4(AIRE):c.775A>T (p.Lys259Ter)
|
|
|
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.868del (p.Gln290fs)
|
rs2146379725
|
|
NM_000383.4(AIRE):c.880A>T (p.Lys294Ter)
|
rs2040534254
|
|
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg)
|
rs754932526
|
|
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_000383.4(AIRE):c.995+1G>A
|
|
|
NM_000383.4(AIRE):c.995+1G>C
|
|
|
NM_000383.4(AIRE):c.996-1G>A
|
|
|
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)
|
rs1926565039
|
|
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.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)
|
rs1926485824
|
|
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
|
|
|
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs)
|
rs2147007005
|
|
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
|
|
|
NM_000475.5(NR0B1):c.617del (p.His206fs)
|
|
|
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
|
|
|
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)
|
rs2147006592
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)
|
rs1060499835
|
|
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
|
|
|
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
|
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
|
|
NM_000497.4(CYP11B1):c.1122-2A>G
|
|
|
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)
|
rs1816901292
|
|
NM_000497.4(CYP11B1):c.1150C>T (p.Arg384Ter)
|
|
|
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)
|
rs1379392398
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1200+1G>T
|
|
|
NM_000497.4(CYP11B1):c.1200+1del
|
rs2130267209
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1201-9C>A
|
|
|
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)
|
rs1554652650
|
|
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del)
|
rs2130266841
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
|
|
|
NM_000497.4(CYP11B1):c.1398+2T>C
|
rs577022490
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.1399-1G>C
|
|
|
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)
|
|
|
NM_000497.4(CYP11B1):c.147del (p.Trp49fs)
|
rs748867146
|
|
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)
|
rs1383321200
|
|
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)
|
rs1554653675
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.304C>T (p.Gln102Ter)
|
rs1554653551
|
|
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
|
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.396-2A>G
|
|
|
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
|
|
|
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)
|
|
|
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)
|
rs1479660166
|
|
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)
|
rs142484434
|
|
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter)
|
rs1554653714
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.595+1G>C
|
|
|
NM_000497.4(CYP11B1):c.596-2A>G
|
|
|
NM_000497.4(CYP11B1):c.642_643del (p.His214fs)
|
rs1369163428
|
|
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
|
|
|
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
|
|
|
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
|
|
|
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
|
|
|
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
|
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
|
|
|
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
|
|
|
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)
|
|
|
NM_000497.4(CYP11B1):c.799+1G>C
|
rs1554652990
|
|
NM_000497.4(CYP11B1):c.799+2T>C
|
rs193922541
|
|
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
|
|
|
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)
|
|
|
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
|
|
|
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
|
|
|
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)
|
rs5290
|
|
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)
|
rs775128501
|
|
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)
|
rs1816949224
|
|
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)
|
rs2130273520
|
|
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)
|
rs769310764
|
|
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
|
|
|
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
|
|
|
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954+1del
|
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
|
rs1326688256
|
|
NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer)
|
rs63748989
|
|
NM_000498.3(CYP11B2):c.517AAG[2] (p.Lys175del)
|
rs746842822
|
|
NM_000498.3(CYP11B2):c.922T>C (p.Ser308Pro)
|
rs1351295710
|
|
NM_000498.3(CYP11B2):c.945C>G (p.Ser315Arg)
|
|
|
NM_000500.7:c.*28699080dupT
|
|
|
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)
|
rs2151875295
|
|
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
|
|
|
NM_000500.9(CYP21A2):c.1118+1G>A
|
rs778895502
|
|
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.1274G>T (p.Gly425Val)
|
rs2151876633
|
|
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
|
rs779791105
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
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.292+1G>A
|
rs779144910
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
|
|
|
NM_000500.9(CYP21A2):c.405del (p.Met136fs)
|
rs2151871966
|
|
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
|
|
|
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
|
rs1582305275
|
|
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter)
|
rs1776123817
|
|
NM_000500.9(CYP21A2):c.652-1G>A
|
rs1397184823
|
|
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
|
|
|
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.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
|
|
|
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del)
|
rs1582309414
|
|
NM_000500.9:c.(?_-50)_(939+1_940-1)del
|
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)
|
rs761911005
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)
|
rs864321643
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000551.4(VHL):c.479A>T (p.Glu160Val)
|
rs864321641
|
|
NM_000551.4(VHL):c.509T>C (p.Val170Ala)
|
rs864321642
|
|
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)
|
rs5030823
|
|
NM_000551.4(VHL):c.588dup (p.Asp197fs)
|
rs864321640
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_000781.3(CYP11A1):c.391C>T (p.Gln131Ter)
|
rs2060639501
|
|
NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys)
|
rs886041121
|
|
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs)
|
rs202117698
|
|
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs)
|
rs2142575218
|
|
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs)
|
rs1596605496
|
|
NM_001105247.2(ARMC5):c.2432G>C (p.Arg811Pro)
|
rs181967284
|
|
NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp)
|
rs35461188
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)
|
rs2071312
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)
|
rs776561706
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)
|
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)
|
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1185+1G>A
|
rs1941661315
|
|
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
|
|
|
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)
|
|
|
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)
|
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)
|
rs1941615895
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)
|
rs1555164270
|
|
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)
|
rs1114167528
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)
|
rs104894259
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1311dup (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)
|
rs1060499981
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)
|
rs1592636161
|
|
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)
|
|
|
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)
|
rs775922507
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)
|
rs878855189
|
|
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)
|
rs2136192730
|
|
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)
|
|
|
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
|
|
|
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
|
|
|
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)
|
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)
|
rs1555166664
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)
|
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1665_1668del (p.Ser555fs)
|
rs1114167510
|
|
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del)
|
rs794728661
|
|
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)
|
|
|
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)
|
|
|
NM_001370259.2(MEN1):c.1739del (p.Thr580fs)
|
rs864622617
|
|
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)
|
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)
|
|
|
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)
|
rs1114167515
|
|
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
|
|
|
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)
|
rs1114167543
|
|
NM_001370259.2(MEN1):c.445+1G>A
|
|
|
NM_001370259.2(MEN1):c.445+1G>T
|
|
|
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)
|
rs1565648547
|
|
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)
|
rs1057521111
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)
|
|
|
NM_001370259.2(MEN1):c.654+3A>G
|
rs1064793168
|
|
NM_001370259.2(MEN1):c.655-15_658del
|
rs1592649598
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)
|
rs1592649108
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.762_768dup (p.Leu257fs)
|
rs1555165488
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)
|
rs878855198
|
|
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)
|
|
|
NM_001370259.2(MEN1):c.783+2del
|
|
|
NM_001370259.2(MEN1):c.784-1G>A
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-1G>C
|
rs1555165377
|
|
NM_001370259.2(MEN1):c.784-2A>T
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)
|
rs1592647281
|
|
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)
|
|
|
NM_001370259.2(MEN1):c.825-1_825del
|
rs2136130282
|
|
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)
|
rs1060499973
|
|
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)
|
rs1592646211
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)
|
|
|
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)
|
rs1114167469
|
|
NM_001370259.2(MEN1):c.970_984del (p.Leu324_His328del)
|
rs1941723156
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)
|
|
|
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)
|
|
|
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)
|
|
|
NM_001395413.1(POR):c.1239+1G>C
|
rs782168868
|
|
NM_001395413.1(POR):c.1239+1G>T
|
|
|
NM_001395413.1(POR):c.1239+2T>G
|
|
|
NM_001395413.1(POR):c.1240-2A>G
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1389+1G>A
|
|
|
NM_001395413.1(POR):c.1389+1G>C
|
|
|
NM_001395413.1(POR):c.1647_1660+15del
|
|
|
NM_001395413.1(POR):c.1661-2A>G
|
|
|
NM_001395413.1(POR):c.1807-2A>C
|
|
|
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
|
|
|
NM_001395413.1(POR):c.229-1G>A
|
|
|
NM_001395413.1(POR):c.229-2A>G
|
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
NM_001395413.1(POR):c.821+2_821+3del
|
|
|
NM_001756.4(SERPINA6):c.164_165del (p.Val55fs)
|
rs771441863
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
|
rs1167538050
|
|
NM_002382.5(MAX):c.300_309dup (p.Lys104fs)
|
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)
|
rs1555815121
|
|
NM_003000.2(SDHB):c.201-?_765+?dup
|
|
|
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)
|
rs1570958090
|
|
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
|
|
|
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)
|
rs864321639
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.200+5G>T
|
rs1553178726
|
|
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)
|
rs587782904
|
|
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)
|
rs2101529108
|
|
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
|
|
|
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)
|
rs864321638
|
|
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)
|
rs864321637
|
|
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)
|
rs2101528919
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)
|
rs570278423
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
|
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)
|
rs587782243
|
|
NM_003000.3(SDHB):c.287-10_295del
|
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)
|
rs1553177769
|
|
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)
|
rs1553177768
|
|
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)
|
rs878854576
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.348_352del (p.Ile117fs)
|
rs1480267715
|
|
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)
|
rs786203529
|
|
NM_003000.3(SDHB):c.424-79_424-2del
|
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
NM_003000.3(SDHB):c.479_482del (p.Lys160fs)
|
rs2101521720
|
|
NM_003000.3(SDHB):c.540+1G>A
|
rs1553177667
|
|
NM_003000.3(SDHB):c.540_540+13del
|
rs1553177666
|
|
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
|
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)
|
rs2101516550
|
|
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)
|
rs2077978456
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)
|
rs397516835
|
|
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)
|
rs2101516484
|
|
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)
|
rs2077978300
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)
|
rs1557739966
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)
|
rs781590955
|
|
NM_003000.3(SDHB):c.642_642+6del
|
rs876660368
|
|
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)
|
rs747518441
|
|
NM_003000.3(SDHB):c.72+2T>G
|
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)
|
rs2101513669
|
|
NM_003000.3(SDHB):c.73-1G>A
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-1G>T
|
rs1131691055
|
|
NM_003000.3(SDHB):c.73-2A>C
|
|
|
NM_003000.3(SDHB):c.73-2A>T
|
rs1474282888
|
|
NM_003000.3(SDHB):c.756_765+4del
|
rs1553177267
|
|
NM_003000.3(SDHB):c.774_778del (p.Asn258fs)
|
|
|
NM_003000.3(SDHB):c.780dup (p.Lys261fs)
|
rs1557738304
|
|
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)
|
rs1553176976
|
|
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)
|
rs1553176979
|
|
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr)
|
rs1553262444
|
|
NM_003001.5(SDHC):c.171_179+15del
|
rs1671156558
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+1G>T
|
rs1057517818
|
|
NM_003001.5(SDHC):c.179+2T>A
|
|
|
NM_003001.5(SDHC):c.180-2A>G
|
rs1363265634
|
|
NM_003001.5(SDHC):c.20+1G>A
|
|
|
NM_003001.5(SDHC):c.20+1G>T
|
rs1249046874
|
|
NM_003001.5(SDHC):c.21-3_22del
|
rs1553261757
|
|
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)
|
rs786205147
|
|
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)
|
rs1670517782
|
|
NM_003001.5(SDHC):c.379C>A (p.His127Asn)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.379C>G (p.His127Asp)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.405+1G>A
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1del
|
rs1558182956
|
|
NM_003001.5(SDHC):c.406-1G>A
|
|
|
NM_003001.5(SDHC):c.422_423insT (p.Lys141fs)
|
rs1672548902
|
|
NM_003001.5(SDHC):c.77+1G>A
|
rs1558164647
|
|
NM_003001.5(SDHC):c.77+1G>C
|
|
|
NM_003001.5(SDHC):c.78-1G>T
|
rs786202200
|
|
NM_003001.5(SDHC):c.78-2A>G
|
|
|
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
|
|
|
NM_003002.4(SDHD):c.117del (p.Ile40fs)
|
|
|
NM_003002.4(SDHD):c.128G>A (p.Trp43Ter)
|
rs2135267337
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.148C>G (p.His50Asp)
|
rs779249550
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.217dup (p.Ser73fs)
|
rs2135269358
|
|
NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)
|
rs1865690107
|
|
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)
|
rs786205436
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.298del (p.Thr100fs)
|
rs1555187067
|
|
NM_003002.4(SDHD):c.304C>A (p.His102Asn)
|
rs786202403
|
|
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
|
rs786202403
|
|
NM_003002.4(SDHD):c.305A>C (p.His102Pro)
|
rs104894302
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)
|
rs876659276
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.386del (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)
|
rs786203932
|
|
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)
|
rs1401695686
|
|
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)
|
rs80338847
|
|
NM_003002.4(SDHD):c.424_427del (p.Phe142fs)
|
rs2135277706
|
|
NM_003002.4(SDHD):c.443del (p.Gly148fs)
|
rs587776646
|
|
NM_003002.4(SDHD):c.44_52+24del
|
rs1865621296
|
|
NM_003002.4(SDHD):c.52+1_52+2delinsAA
|
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.53-1_53delinsTT
|
rs1566691921
|
|
NM_003002.4(SDHD):c.53-2A>C
|
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_004168.4(SDHA):c.1015T>C (p.Ser339Pro)
|
rs1553999041
|
|
NM_004168.4(SDHA):c.1064+1G>T
|
rs1579402807
|
|
NM_004168.4(SDHA):c.1064+2T>A
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1064+2T>C
|
|
|
NM_004168.4(SDHA):c.1064+2T>G
|
rs1553999072
|
|
NM_004168.4(SDHA):c.1065-2A>G
|
|
|
NM_004168.4(SDHA):c.1260+1G>A
|
rs1735710012
|
|
NM_004168.4(SDHA):c.1260+2T>A
|
rs1735710103
|
|
NM_004168.4(SDHA):c.1261-1G>A
|
rs1735779936
|
|
NM_004168.4(SDHA):c.1261-2A>G
|
rs1579409293
|
|
NM_004168.4(SDHA):c.1304T>G (p.Leu435Arg)
|
rs1579409500
|
|
NM_004168.4(SDHA):c.1334C>T (p.Ser445Leu)
|
rs1296066077
|
|
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys)
|
rs1553999752
|
|
NM_004168.4(SDHA):c.1432+1G>A
|
|
|
NM_004168.4(SDHA):c.1432+1G>C
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+1G>T
|
rs878854628
|
|
NM_004168.4(SDHA):c.1432+2T>G
|
|
|
NM_004168.4(SDHA):c.1433-2A>G
|
|
|
NM_004168.4(SDHA):c.150+1G>C
|
rs1057523165
|
|
NM_004168.4(SDHA):c.150_150+1delinsTA
|
rs2126539987
|
|
NM_004168.4(SDHA):c.151-1G>C
|
rs1458851277
|
|
NM_004168.4(SDHA):c.151-2A>G
|
|
|
NM_004168.4(SDHA):c.1551+1G>A
|
rs759806010
|
|
NM_004168.4(SDHA):c.1552-1G>C
|
|
|
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val)
|
rs137852767
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.1664-16_1666del
|
|
|
NM_004168.4(SDHA):c.1664-1G>A
|
|
|
NM_004168.4(SDHA):c.1664-2A>G
|
rs2126633124
|
|
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)
|
rs387906780
|
|
NM_004168.4(SDHA):c.1766G>A (p.Arg589Gln)
|
rs763766162
|
|
NM_004168.4(SDHA):c.1769del (p.Gly590fs)
|
rs1554001958
|
|
NM_004168.4(SDHA):c.1773_1774dup (p.His592fs)
|
rs1561010948
|
|
NM_004168.4(SDHA):c.1794+1G>A
|
rs876659595
|
|
NM_004168.4(SDHA):c.1795-1G>T
|
rs778516878
|
|
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter)
|
rs1579445179
|
|
NM_004168.4(SDHA):c.1909-1G>A
|
rs1159597886
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.210dup (p.Gly71fs)
|
rs1553997340
|
|
NM_004168.4(SDHA):c.284C>G (p.Pro95Arg)
|
rs1553997377
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.312+1G>A
|
rs2126543441
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.456+1G>T
|
rs1579384604
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.621+1G>A
|
rs1735002961
|
|
NM_004168.4(SDHA):c.622-1G>A
|
rs1285132774
|
|
NM_004168.4(SDHA):c.63+1G>C
|
|
|
NM_004168.4(SDHA):c.63+2del
|
rs1579369969
|
|
NM_004168.4(SDHA):c.64-2A>C
|
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.769_770+77del
|
|
|
NM_004168.4(SDHA):c.771-1G>C
|
rs1735353141
|
|
NM_004168.4(SDHA):c.778G>C (p.Gly260Arg)
|
rs940845256
|
|
NM_004168.4(SDHA):c.895+1del
|
rs2126568833
|
|
NM_004168.4(SDHA):c.895+2T>C
|
|
|
NM_004168.4(SDHA):c.896-2A>G
|
|
|
NM_004168.4(SDHA):c.896-2del
|
|
|
NM_004168.4(SDHA):c.944dup (p.Gly316fs)
|
rs1579402180
|
|
NM_004168.4:c.(1260_1261)_(1432_1433)del
|
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)
|
rs2125629897
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)
|
rs765757844
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
|
|
|
NM_015665.6(AAAS):c.762del (p.Ser255fs)
|
rs746057093
|
|
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)
|
rs2121089586
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)
|
rs774817639
|
|
NM_016953.4(PDE11A):c.1149T>A (p.Tyr383Ter)
|
|
|
NM_016953.4(PDE11A):c.1270_1280del (p.Ser424fs)
|
rs2105727398
|
|
NM_016953.4(PDE11A):c.1585C>T (p.Gln529Ter)
|
rs2105581875
|
|
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)
|
rs1574084195
|
|
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)
|
rs769235876
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
NM_017841.4(SDHAF2):c.260+1G>A
|
rs749527870
|
|
NM_017841.4(SDHAF2):c.260+2T>C
|
rs2134892557
|
|
NM_017841.4(SDHAF2):c.261-1G>T
|
|
|
NM_017841.4(SDHAF2):c.261-2A>T
|
rs745989557
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.36+1G>A
|
|
|
NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs)
|
rs1862009020
|
|
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)
|
|
|
NM_017849.4(TMEM127):c.-18C>T
|
rs121908813
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)
|
rs121908817
|
|
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
|
|
|
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
|
|
|
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
|
|
|
NM_017849.4(TMEM127):c.244+2T>C
|
|
|
NM_017849.4(TMEM127):c.245-1G>T
|
rs121908821
|
|
NM_017849.4(TMEM127):c.245-2A>G
|
rs2104288018
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
|
|
|
NM_017849.4(TMEM127):c.308del (p.Gly103fs)
|
rs727503490
|
|
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)
|
rs121908814
|
|
NM_017849.4(TMEM127):c.409+1G>T
|
rs121908825
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)
|
rs121908827
|
|
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)
|
rs121908828
|
|
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)
|
rs121908829
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)
|
rs1684149620
|
|
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)
|
rs1553436874
|
|
NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
|
|
|
NM_017849.4(TMEM127):c.570del (p.Thr191fs)
|
rs1215337884
|
|
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)
|
rs121908831
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)
|
rs377767404
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2410G>C (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)
|
rs377767429
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)
|
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|
NM_182977.3(NNT):c.1575dup (p.Pro526fs)
|
rs1739624229
|
|
NM_182977.3(NNT):c.598G>A (p.Gly200Ser)
|
rs886039788
|
|
NM_182977.3(NNT):c.98dup (p.Leu33fs)
|
rs1579966821
|
|