NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
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_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)
|
rs76308115
|
0.00292
|
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His)
|
rs113418909
|
0.00236
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser)
|
rs776989258
|
0.00047
|
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_004168.4(SDHA):c.1A>G (p.Met1Val)
|
rs1061517
|
0.00013
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00011
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00009
|
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)
|
rs80358231
|
0.00009
|
NM_004285.4(H6PD):c.948C>G (p.Tyr316Ter)
|
rs398122817
|
0.00008
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000781.3(CYP11A1):c.835del (p.Ile279fs)
|
rs757299093
|
0.00007
|
NM_013335.4(GMPPA):c.637_640dup (p.Trp214fs)
|
rs745806762
|
0.00007
|
NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)
|
rs45588036
|
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_001395413.1(POR):c.1816C>T (p.Gln606Ter)
|
rs782261248
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)
|
rs757033996
|
0.00005
|
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)
|
rs80358217
|
0.00005
|
NM_000349.3(STAR):c.772C>T (p.Gln258Ter)
|
rs104894085
|
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_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
|
rs121912978
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000551.4(VHL):c.562C>G (p.Leu188Val)
|
rs5030824
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_004168.4(SDHA):c.1663+3G>C
|
rs751904543
|
0.00004
|
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)
|
rs139881415
|
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_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)
|
rs80358218
|
0.00003
|
NM_000349.3(STAR):c.562C>T (p.Arg188Cys)
|
rs104894090
|
0.00003
|
NM_000349.3(STAR):c.653C>T (p.Ala218Val)
|
rs137852690
|
0.00003
|
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)
|
rs775479837
|
0.00003
|
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)
|
rs104894656
|
0.00003
|
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)
|
rs121912812
|
0.00003
|
NM_001379228.1(MRAP):c.106+1G>C
|
rs566223651
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
0.00003
|
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)
|
rs74315370
|
0.00003
|
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)
|
rs267607032
|
0.00003
|
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)
|
rs74315369
|
0.00003
|
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)
|
rs898854295
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)
|
rs778737664
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_015665.6(AAAS):c.1191dup (p.Glu398fs)
|
rs746305979
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000102.4(CYP17A1):c.1226C>G (p.Pro409Arg)
|
rs367833709
|
0.00002
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000102.4(CYP17A1):c.297+2T>C
|
rs764723654
|
0.00002
|
NM_000163.5(GHR):c.184G>A (p.Glu62Lys)
|
rs121909361
|
0.00002
|
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)
|
rs766474996
|
0.00002
|
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
|
rs767167623
|
0.00002
|
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu)
|
rs179363889
|
0.00002
|
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg)
|
rs179363880
|
0.00002
|
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp)
|
rs140630532
|
0.00002
|
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter)
|
rs755490967
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)
|
rs121912977
|
0.00002
|
NM_000498.3(CYP11B2):c.954G>A (p.Thr318=)
|
rs760329766
|
0.00002
|
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)
|
rs104894657
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)
|
rs137854550
|
0.00002
|
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp)
|
rs587777662
|
0.00002
|
NM_001395413.1(POR):c.1033del (p.Val345fs)
|
rs1563433095
|
0.00002
|
NM_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)
|
rs121912976
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_001395413.1(POR):c.1837C>T (p.Arg613Ter)
|
rs781946801
|
0.00002
|
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)
|
rs201286421
|
0.00002
|
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)
|
rs774508076
|
0.00002
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys)
|
rs104894142
|
0.00001
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu)
|
rs760695410
|
0.00001
|
NM_000102.4(CYP17A1):c.1216T>C (p.Trp406Arg)
|
rs104894143
|
0.00001
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
NM_000102.4(CYP17A1):c.287G>A (p.Arg96Gln)
|
rs104894153
|
0.00001
|
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro)
|
rs104894135
|
0.00001
|
NM_000196.4(HSD11B2):c.1009C>T (p.Arg337Cys)
|
rs121917781
|
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_000196.4(HSD11B2):c.623G>A (p.Arg208His)
|
rs28934592
|
0.00001
|
NM_000196.4(HSD11B2):c.667G>A (p.Asp223Asn)
|
rs121917833
|
0.00001
|
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)
|
rs148200568
|
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.385G>A (p.Gly129Arg)
|
rs587628683
|
0.00001
|
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)
|
rs80358219
|
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.577C>T (p.Arg193Ter)
|
rs387907235
|
0.00001
|
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000383.4(AIRE):c.1096-1G>A
|
rs780906602
|
0.00001
|
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs)
|
rs386833672
|
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.1A>G (p.Met1Val)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.1A>T (p.Met1Leu)
|
rs121434258
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
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.789del (p.Ala264fs)
|
rs387906295
|
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.1012C>T (p.Gln338Ter)
|
rs1214983921
|
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.427C>T (p.Arg143Trp)
|
rs140336749
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000497.4(CYP11B1):c.596-2A>T
|
rs775946442
|
0.00001
|
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)
|
rs1421641874
|
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_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro)
|
rs72554627
|
0.00001
|
NM_000498.3(CYP11B2):c.240-2A>G
|
rs1442525444
|
0.00001
|
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter)
|
rs151344503
|
0.00001
|
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
|
rs151344504
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
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.319G>A (p.Asp107Asn)
|
rs104894661
|
0.00001
|
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)
|
rs104894660
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.375G>A (p.Thr125=)
|
rs55863639
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.473G>A (p.Arg158His)
|
rs587782144
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.541C>T (p.Arg181Cys)
|
rs587782596
|
0.00001
|
NM_000546.6(TP53):c.560-1G>A
|
rs1202793339
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.817C>T (p.Arg273Cys)
|
rs121913343
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
NM_000781.3(CYP11A1):c.1351C>T (p.Arg451Trp)
|
rs775102947
|
0.00001
|
NM_000781.3(CYP11A1):c.358del (p.Arg120fs)
|
rs1287871034
|
0.00001
|
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)
|
rs755186597
|
0.00001
|
NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter)
|
rs369721476
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)
|
rs863224810
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)
|
rs1565648547
|
0.00001
|
NM_001379228.1(MRAP):c.106+1del
|
rs1476574441
|
0.00001
|
NM_001756.4(SERPINA6):c.32G>A (p.Trp11Ter)
|
rs777245398
|
0.00001
|
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)
|
rs387906650
|
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.221A>C (p.Asp74Ala)
|
rs876658713
|
0.00001
|
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
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.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)
|
rs397516836
|
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.689G>A (p.Arg230His)
|
rs587782604
|
0.00001
|
NM_003000.3(SDHB):c.725G>A (p.Arg242His)
|
rs74315368
|
0.00001
|
NM_003000.3(SDHB):c.80G>A (p.Arg27Gln)
|
rs373976827
|
0.00001
|
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)
|
rs587778661
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)
|
rs756676111
|
0.00001
|
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)
|
rs1060501387
|
0.00001
|
NM_003001.5(SDHC):c.380A>G (p.His127Arg)
|
rs786203457
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)
|
rs104894307
|
0.00001
|
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)
|
rs202198133
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004168.4(SDHA):c.1340A>G (p.His447Arg)
|
rs779151375
|
0.00001
|
NM_004168.4(SDHA):c.1352G>A (p.Arg451His)
|
rs370690436
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter)
|
rs747249998
|
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.1754G>A (p.Arg585Gln)
|
rs752360961
|
0.00001
|
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)
|
rs775827529
|
0.00001
|
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter)
|
rs771328239
|
0.00001
|
NM_004285.4(H6PD):c.1076G>A (p.Gly359Asp)
|
rs387907167
|
0.00001
|
NM_004285.4(H6PD):c.960G>A (p.Val320=)
|
rs398122816
|
0.00001
|
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)
|
rs1293789661
|
0.00001
|
NM_005525.4(HSD11B1):c.409C>T (p.Arg137Cys)
|
rs387907168
|
0.00001
|
NM_013335.4(GMPPA):c.295C>T (p.Arg99Ter)
|
rs397518460
|
0.00001
|
NM_015665.6(AAAS):c.1087+1G>A
|
rs1035139364
|
0.00001
|
NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)
|
rs754078574
|
0.00001
|
NM_015665.6(AAAS):c.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_017841.4(SDHAF2):c.29del (p.Ser10fs)
|
rs1339037960
|
0.00001
|
NM_017841.4(SDHAF2):c.37-2A>G
|
rs1344681005
|
0.00001
|
NM_017849.4(TMEM127):c.3G>A (p.Met1Ile)
|
rs121908814
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val)
|
rs786205050
|
0.00001
|
NM_182977.3(NNT):c.3027T>G (p.Asn1009Lys)
|
rs370273690
|
0.00001
|
NM_182977.3(NNT):c.385C>T (p.Arg129Ter)
|
rs886039789
|
0.00001
|
CLCN2, LYS362DEL
|
|
|
CYP11B1, CYP11B1/CYP11B2 ANTI-LEPORE-LIKE CHIMERA
|
|
|
CYP11B1, CYP11B1/CYP11B2 CHIMERA
|
|
|
CYP21A2, 30-KB DEL
|
|
|
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
|
|
|
GRCh37/hg19 8q24.3(chr8:143958418-143996344)
|
|
|
GRCh37/hg19 Xq28(chrX:152980470-153032459)
|
|
|
NC_000001.10:g.(?_161284158)_(161284225_?)del
|
|
|
NC_000001.10:g.(?_161293394)_(161293470_?)del
|
|
|
NC_000001.10:g.(?_161298176)_(161298297_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161310455_?)del
|
|
|
NC_000001.10:g.(?_161310374)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161326457)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_161332109)_(161332308_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17345463_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17359650_?)del
|
|
|
NC_000001.10:g.(?_17345376)_(17371403_?)del
|
|
|
NC_000001.10:g.(?_17349093)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17359545)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17371246)_(17380514_?)del
|
|
|
NC_000001.10:g.(?_17380437)_(17380520_?)del
|
|
|
NC_000001.10:g.17375249_17390927del15679
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
NC_000001.11:g.(?_161314368)_(161362518_?)del
|
|
|
NC_000001.11:g.(?_161314400)_(161362439_?)del
|
|
|
NC_000001.11:g.(?_161323604)_(161328507_?)del
|
|
|
NC_000001.11:g.(?_161340584)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161356850_?)del
|
|
|
NC_000001.11:g.(?_161356667)_(161362443_?)del
|
|
|
NC_000001.11:g.(?_161356677)_(161356840_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17018968_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018871)_(17054029_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17018875)_(17044894_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17054019_?)del
|
|
|
NC_000001.11:g.(?_17018881)_(17071491_?)del
|
|
|
NC_000001.11:g.(?_17033050)_(17033155_?)del
|
|
|
NC_000001.11:g.(?_17033054)_(17033151_?)del
|
|
|
NC_000001.11:g.(?_17044751)_(17044898_?)del
|
|
|
NC_000001.11:g.(?_17044761)_(17044888_?)del
|
|
|
NC_000001.11:g.(?_17053938)_(17054029_?)del
|
|
|
NC_000002.11:g.(?_96919546)_(96920745_?)del
|
|
|
NC_000002.11:g.(?_96930866)_(96931137_?)del
|
|
|
NC_000002.12:g.(?_96253798)_(96265391_?)del
|
|
|
NC_000002.12:g.(?_96253808)_(96265399_?)del
|
|
|
NC_000011.10:g.(?_112086898)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112086902)_(112094975_?)del
|
|
|
NC_000011.10:g.(?_112088857)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094970_?)del
|
|
|
NC_000011.10:g.(?_112094795)_(112094980_?)del
|
|
|
NC_000011.10:g.(?_112094799)_(112094976_?)del
|
|
|
NC_000011.10:g.(?_64803514)_(64804816_?)del
|
|
|
NC_000011.10:g.(?_64803514)_(64810132_?)del
|
|
|
NC_000011.10:g.(?_64804324)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64804334)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64809655)_(64810716_?)del
|
|
|
NC_000011.10:g.(?_64809659)_(64810115_?)del
|
|
|
NC_000011.10:g.64804807_64804818del
|
rs760199250
|
|
NC_000011.9:g.(?_111171709)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111959745_?)del
|
|
|
NC_000011.9:g.(?_111171709)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111956548)_(111967525_?)del
|
|
|
NC_000011.9:g.(?_111957547)_(111958707_?)del
|
|
|
NC_000011.9:g.(?_111957571)_(111966518_?)del
|
|
|
NC_000011.9:g.(?_111957632)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_111959581)_(111965694_?)del
|
|
|
NC_000011.9:g.(?_61197619)_(61552680_?)del
|
|
|
NC_000011.9:g.(?_64571796)_(64572298_?)del
|
|
|
NC_000011.9:g.(?_64573097)_(64575581_?)del
|
|
|
NC_000011.9:g.(?_64575120)_(64576450_?)del
|
|
|
NC_000011.9:g.(?_64577559)_(64578852_?)del
|
|
|
NC_000012.12:g.53306793_53321761del
|
|
|
NC_000014.9:g.(?_65093698)_(65102349_?)del
|
|
|
NC_000014.9:g.(?_65093702)_(65102345_?)del
|
|
|
NC_000014.9:g.(?_65101536)_(65102349_?)del
|
|
|
NC_000014.9:g.(?_65101546)_(65102544_?)del
|
|
|
NC_000021.8:g.(?_45705870)_(45707494_?)del
|
|
|
NC_000021.8:g.(?_45705870)_(45711113_?)del
|
|
|
NC_000021.8:g.(?_45705880)_(45707026_?)del
|
|
|
NC_000021.8:g.(?_45705880)_(45711103_?)del
|
|
|
NC_000021.8:g.(?_45709640)_(45714378_?)del
|
|
|
NC_000021.9:g.(?_44285987)_(44297747_?)del
|
|
|
NC_000021.9:g.44288345_44288346del
|
|
|
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
|
|
|
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
|
|
|
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
NC_000023.10:g.(?_152954020)_(154096327_?)del
|
|
|
NC_000023.10:g.(?_152959340)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_152990722)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_152991573)_(152995898_?)del
|
|
|
NC_000023.10:g.(?_152994617)_(153006193_?)del
|
|
|
NC_000023.10:g.(?_152996855)_(153006103_?)del
|
|
|
NC_000023.10:g.(?_152999896)_(153005554_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153002725_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153001789)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153002601)_(153002715_?)del
|
|
|
NC_000023.10:g.(?_153005725)_(153006804_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_153008655)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008701)_(153011800_?)del
|
|
|
NC_000023.10:g.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.11:g.(?_153736092)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743735_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153740082)_(153740247_?)del
|
|
|
NC_000023.11:g.(?_153742977)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153743201)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NG_012337.3(SDHD):g.11847_14024del
|
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
|
|
|
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
|
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1074dup (p.Glu359fs)
|
|
|
NM_000033.4(ABCD1):c.1081+1G>A
|
rs2091727061
|
|
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
|
|
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
|
rs1603234451
|
|
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
|
rs782266592
|
|
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
|
|
|
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)
|
rs782007706
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
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.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter)
|
rs1603234501
|
|
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
|
|
|
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000033.4(ABCD1):c.1224+2T>A
|
|
|
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)
|
rs2148395507
|
|
NM_000033.4(ABCD1):c.1225-7_1239del
|
rs1569541009
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
|
|
|
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)
|
rs1557054210
|
|
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
|
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs)
|
rs2148395658
|
|
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)
|
rs1603234574
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1393+1G>A
|
|
|
NM_000033.4(ABCD1):c.1394-2A>G
|
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
|
rs2091752744
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter)
|
rs128624222
|
|
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)
|
rs2148396057
|
|
NM_000033.4(ABCD1):c.1440del (p.Ile481fs)
|
rs1557054318
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg)
|
rs128624214
|
|
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
|
rs1603234759
|
|
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
|
|
|
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)
|
rs1569540676
|
|
NM_000033.4(ABCD1):c.1488+1G>A
|
rs2091753176
|
|
NM_000033.4(ABCD1):c.1489-1G>A
|
rs1603235263
|
|
NM_000033.4(ABCD1):c.1489-2A>G
|
|
|
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)
|
rs2148397523
|
|
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
|
|
|
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
|
rs2091762383
|
|
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
|
|
|
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
|
rs2091762396
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)
|
rs2148388737
|
|
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552del (p.Arg518fs)
|
rs387906495
|
|
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
|
|
|
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)
|
rs1159943880
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
|
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
|
rs1603235321
|
|
NM_000033.4(ABCD1):c.1634+1G>A
|
rs1569541096
|
|
NM_000033.4(ABCD1):c.1634+1G>C
|
|
|
NM_000033.4(ABCD1):c.1634+1G>T
|
|
|
NM_000033.4(ABCD1):c.1635-1G>A
|
rs1603235389
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
|
|
|
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)
|
rs2148397899
|
|
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)
|
rs1569541115
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
|
|
|
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)
|
rs2148397922
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
|
rs2091764622
|
|
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter)
|
rs201114595
|
|
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)
|
rs1557052133
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)
|
rs2148397954
|
|
NM_000033.4(ABCD1):c.1742_1781-968del
|
|
|
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
|
|
|
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter)
|
rs2091765003
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1780+2T>G
|
rs1557054875
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)
|
rs2148398002
|
|
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
|
rs1603235901
|
|
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)
|
rs2148398982
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)
|
rs128624225
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)
|
rs2148399029
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)
|
rs2148399034
|
|
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
|
|
|
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
|
|
|
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
|
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
NM_000033.4(ABCD1):c.1853del (p.Met618fs)
|
rs1603235941
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
|
|
|
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)
|
rs2148399209
|
|
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
|
rs2091773525
|
|
NM_000033.4(ABCD1):c.1895C>T (p.Thr632Ile)
|
rs1064793877
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile)
|
rs2091773697
|
|
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
|
|
|
NM_000033.4(ABCD1):c.1933del (p.Gln645fs)
|
rs1603236013
|
|
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
|
rs2091774046
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)
|
rs2148399327
|
|
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)
|
rs2148399330
|
|
NM_000033.4(ABCD1):c.1991+1G>A
|
|
|
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter)
|
rs2091774163
|
|
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)
|
rs1557055392
|
|
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
|
rs2091702389
|
|
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
|
rs2091775127
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
|
|
|
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)
|
rs2148399483
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_565del (p.Leu79fs)
|
|
|
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
|
|
|
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
|
|
|
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
|
|
|
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
|
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)
|
rs2148388538
|
|
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)
|
rs1304001811
|
|
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.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)
|
rs2148389007
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
|
|
|
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
|
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
|
rs1603231897
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)
|
rs128624216
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)
|
rs1557052367
|
|
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
|
|
|
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
|
|
|
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro)
|
rs2091707324
|
|
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)
|
rs373957035
|
|
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
|
rs2091707458
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
|
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)
|
rs128624217
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)
|
rs2148389350
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.524_526del (p.Phe175del)
|
rs2091707872
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)
|
rs1557052397
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)
|
rs2148389462
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)
|
rs2091708688
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)
|
rs2148389516
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
NM_000033.4(ABCD1):c.668_900+291del
|
rs2148389592
|
|
NM_000033.4(ABCD1):c.697del (p.Ala233fs)
|
rs2148389670
|
|
NM_000033.4(ABCD1):c.70del (p.Leu24fs)
|
rs1557052171
|
|
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
|
|
|
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
|
rs1603232111
|
|
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)
|
rs2148389772
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)
|
rs1557052530
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)
|
rs2148389834
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
|
rs2091711094
|
|
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
|
rs2091711370
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
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.841_853del (p.Tyr281fs)
|
|
|
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)
|
rs2148389929
|
|
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.855del (p.Val286fs)
|
|
|
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
|
|
|
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys)
|
rs128624213
|
|
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del)
|
rs387906496
|
|
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
|
|
|
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)
|
rs1557052573
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)
|
rs2148389994
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.893dup (p.His299fs)
|
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-1G>A
|
rs2148391908
|
|
NM_000033.4(ABCD1):c.901-2A>C
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.901-2A>G
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
|
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)
|
rs2148391974
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
|
|
|
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
|
rs2091726671
|
|
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
|
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1050CCT[1] (p.Leu353del)
|
rs1590203064
|
|
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter)
|
rs2134082367
|
|
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.1162A>T (p.Lys388Ter)
|
rs1060499582
|
|
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)
|
rs104894145
|
|
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del)
|
rs756135168
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
|
|
|
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)
|
rs942376359
|
|
NM_000102.4(CYP17A1):c.438_439del (p.Ile146fs)
|
|
|
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)
|
rs1173000590
|
|
NM_000102.4(CYP17A1):c.667-16_680del
|
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
NM_000102.4(CYP17A1):c.753+1G>A
|
rs1844126291
|
|
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)
|
|
|
NM_000102.4(CYP17A1):c.985_987delinsAA (p.Tyr329fs)
|
rs1844105842
|
|
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
|
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
NM_000163.5(GHR):c.559T>C (p.Trp187Arg)
|
rs886037910
|
|
NM_000163.5(GHR):c.876-1G>C
|
rs730880308
|
|
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His)
|
rs104893913
|
|
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn)
|
rs104893909
|
|
NM_000176.3(NR3C1):c.1891_1892+2del
|
rs587776832
|
|
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val)
|
rs104893908
|
|
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser)
|
rs104893914
|
|
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu)
|
rs121909727
|
|
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met)
|
rs104893910
|
|
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro)
|
rs104893912
|
|
NM_000196.4(HSD11B2):c.1012T>C (p.Tyr338His)
|
rs387907117
|
|
NM_000196.4(HSD11B2):c.1020del (p.Gly341fs)
|
rs2040979235
|
|
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)
|
rs1555518481
|
|
NM_000196.4(HSD11B2):c.637C>T (p.Arg213Cys)
|
rs28934591
|
|
NM_000196.4(HSD11B2):c.664+14C>T
|
rs376023420
|
|
NM_000196.4(HSD11B2):c.77_78del (p.Arg25_Ser26insTer)
|
rs794726684
|
|
NM_000196.4(HSD11B2):c.835C>T (p.Arg279Cys)
|
rs28934594
|
|
NM_000196.4(HSD11B2):c.895_897del (p.Tyr299del)
|
rs794726670
|
|
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)
|
rs905880501
|
|
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu)
|
rs121964897
|
|
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)
|
rs80358216
|
|
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)
|
rs770815049
|
|
NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)
|
rs1266831898
|
|
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)
|
rs80358220
|
|
NM_000198.4(HSD3B2):c.665C>A (p.Pro222Gln)
|
|
|
NM_000198.4(HSD3B2):c.687_713del (p.Trp230_Ala238del)
|
|
|
NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)
|
|
|
NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)
|
rs754609778
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
NM_000198.4(HSD3B2):c.947G>A (p.Arg316His)
|
|
|
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)
|
rs765335418
|
|
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]
|
|
|
NM_000244.3(MEN1):c.1366_*820del1303 (p.Val456_Ter(616_?)(?))
|
|
|
NM_000349.3(STAR):c.125dup (p.Thr44fs)
|
rs750549499
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.178+2dup
|
rs1563268785
|
|
NM_000349.3(STAR):c.201_202del (p.Tyr68fs)
|
rs1563268652
|
|
NM_000349.3(STAR):c.466-11T>A
|
rs1053284504
|
|
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.545G>T (p.Arg182Leu)
|
rs104894086
|
|
NM_000349.3(STAR):c.574C>T (p.Arg192Cys)
|
rs752311616
|
|
NM_000349.3(STAR):c.650G>C (p.Arg217Thr)
|
rs137852689
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
NM_000349.3(STAR):c.749G>A (p.Trp250Ter)
|
rs104894087
|
|
NM_000383.3:c.995+(3_5)delGAGinsTAT
|
|
|
NM_000383.4(AIRE):c.-17_27del (p.Met1fs)
|
rs2040477031
|
|
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
|
|
|
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
|
|
|
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
|
|
|
NM_000383.4(AIRE):c.1066dup (p.Arg356fs)
|
rs1555872879
|
|
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
|
|
|
NM_000383.4(AIRE):c.107del (p.Asp36fs)
|
|
|
NM_000383.4(AIRE):c.1084del (p.Val362fs)
|
rs1057517254
|
|
NM_000383.4(AIRE):c.1095+1G>C
|
|
|
NM_000383.4(AIRE):c.1103dup (p.Leu370fs)
|
rs387906293
|
|
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs)
|
rs746933095
|
|
NM_000383.4(AIRE):c.117del (p.Glu40fs)
|
rs1248788128
|
|
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter)
|
rs1482020075
|
|
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs)
|
rs2146383463
|
|
NM_000383.4(AIRE):c.1193del (p.Pro398fs)
|
rs1555872988
|
|
NM_000383.4(AIRE):c.1214del (p.Pro405fs)
|
rs2040560523
|
|
NM_000383.4(AIRE):c.1233del (p.Ser412fs)
|
rs2146383573
|
|
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
|
|
|
NM_000383.4(AIRE):c.1249dup (p.Leu417fs)
|
rs786204567
|
|
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs)
|
rs2146383561
|
|
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs)
|
rs759281545
|
|
NM_000383.4(AIRE):c.1265del (p.Pro422fs)
|
rs764878471
|
|
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
|
|
|
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter)
|
rs1601969308
|
|
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
|
|
|
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
|
|
|
NM_000383.4(AIRE):c.132+1_132+3delinsCT
|
rs886041293
|
|
NM_000383.4(AIRE):c.133-126_539-180del
|
|
|
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
|
|
|
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
|
|
|
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
|
|
|
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter)
|
rs866898746
|
|
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
|
|
|
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs)
|
rs1057517072
|
|
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
|
|
|
NM_000383.4(AIRE):c.14_15del (p.Ala5fs)
|
rs2146375012
|
|
NM_000383.4(AIRE):c.1503+1G>T
|
rs1156582406
|
|
NM_000383.4(AIRE):c.1513del (p.Ala505fs)
|
rs387906294
|
|
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
|
|
|
NM_000383.4(AIRE):c.1540del (p.Asp514fs)
|
rs2146388096
|
|
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter)
|
rs2040608439
|
|
NM_000383.4(AIRE):c.1566+1G>C
|
|
|
NM_000383.4(AIRE):c.1567-2A>G
|
rs1555873650
|
|
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter)
|
rs1057516272
|
|
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser)
|
rs1568932096
|
|
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
|
|
|
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs)
|
rs2146375818
|
|
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
|
|
|
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter)
|
rs2146375836
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
|
|
|
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
|
rs1601963938
|
|
NM_000383.4(AIRE):c.239T>G (p.Val80Gly)
|
rs267606642
|
|
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu)
|
rs121434255
|
|
NM_000383.4(AIRE):c.253_255del (p.Tyr85del)
|
rs2146375885
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.260del (p.Leu87fs)
|
rs1057517428
|
|
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
|
|
|
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys)
|
rs179363883
|
|
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg)
|
rs179363884
|
|
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
|
|
|
NM_000383.4(AIRE):c.2T>A (p.Met1Lys)
|
rs2146374989
|
|
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
|
|
|
NM_000383.4(AIRE):c.2T>G (p.Met1Arg)
|
rs2146374989
|
|
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter)
|
rs1472808103
|
|
NM_000383.4(AIRE):c.328del (p.Arg110fs)
|
rs1162316051
|
|
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter)
|
rs2146376221
|
|
NM_000383.4(AIRE):c.347del (p.Pro116fs)
|
rs1568926472
|
|
NM_000383.4(AIRE):c.349del (p.Ala117fs)
|
|
|
NM_000383.4(AIRE):c.36del (p.Arg12fs)
|
rs2146375064
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000383.4(AIRE):c.449del (p.Gly150fs)
|
|
|
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu)
|
rs179363876
|
|
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter)
|
rs1488613451
|
|
NM_000383.4(AIRE):c.47C>T (p.Thr16Met)
|
rs179363877
|
|
NM_000383.4(AIRE):c.489del (p.Lys164fs)
|
rs746101086
|
|
NM_000383.4(AIRE):c.489dup (p.Lys164fs)
|
rs746101086
|
|
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs)
|
rs1179261094
|
|
NM_000383.4(AIRE):c.510_522del (p.Glu171fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs)
|
rs940485051
|
|
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter)
|
rs1057517241
|
|
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
|
|
|
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter)
|
rs143952576
|
|
NM_000383.4(AIRE):c.599dup (p.Ala202fs)
|
rs1213326298
|
|
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp)
|
rs121434257
|
|
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
|
|
|
NM_000383.4(AIRE):c.747del (p.Ser249fs)
|
rs2146379302
|
|
NM_000383.4(AIRE):c.768del (p.Arg257fs)
|
|
|
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter)
|
rs2146379356
|
|
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
|
|
|
NM_000383.4(AIRE):c.823del (p.Gln275fs)
|
rs764819068
|
|
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
|
|
|
NM_000383.4(AIRE):c.868del (p.Gln290fs)
|
rs2146379725
|
|
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro)
|
rs179363879
|
|
NM_000383.4(AIRE):c.878del (p.Gln293fs)
|
|
|
NM_000383.4(AIRE):c.931del (p.Cys311fs)
|
rs1555872755
|
|
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
|
|
|
NM_000383.4(AIRE):c.958del (p.Leu320fs)
|
rs1568928525
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000383.4(AIRE):c.969_975del (p.Ser324fs)
|
rs2146381019
|
|
NM_000383.4(AIRE):c.995+3_995+5delinsTAT
|
rs2040536458
|
|
NM_000475.5(NR0B1):c.0_1168+260del
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter)
|
rs104894908
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)
|
rs104894886
|
|
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)
|
rs1555972957
|
|
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)
|
rs104894900
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)
|
rs104894896
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
NM_000475.5(NR0B1):c.1169-112_*17delinsTG
|
rs1555972632
|
|
NM_000475.5(NR0B1):c.1169-1G>A
|
rs1555972666
|
|
NM_000475.5(NR0B1):c.1169-1G>T
|
|
|
NM_000475.5(NR0B1):c.116G>A (p.Trp39Ter)
|
rs1569269179
|
|
NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)
|
rs104894894
|
|
NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter)
|
rs104894906
|
|
NM_000475.5(NR0B1):c.1201C>T (p.Gln401Ter)
|
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)
|
rs1555972655
|
|
NM_000475.5(NR0B1):c.1267del (p.His423fs)
|
rs1569268048
|
|
NM_000475.5(NR0B1):c.1274G>T (p.Arg425Ile)
|
rs387907373
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)
|
rs104894897
|
|
NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)
|
rs28935481
|
|
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)
|
rs1555972641
|
|
NM_000475.5(NR0B1):c.1350del (p.Arg450fs)
|
|
|
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)
|
rs1555972640
|
|
NM_000475.5(NR0B1):c.1376_1377delinsG (p.Asp459fs)
|
|
|
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs)
|
rs2147007424
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
NM_000475.5(NR0B1):c.215_218dup (p.His73fs)
|
rs1926599738
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
NM_000475.5(NR0B1):c.277del (p.Ala93fs)
|
rs1555973189
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)
|
rs132630327
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)
|
rs104894891
|
|
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)
|
rs1555973132
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
NM_000475.5(NR0B1):c.543del (p.Gly183fs)
|
rs1555973120
|
|
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)
|
rs1555973119
|
|
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)
|
rs1555973117
|
|
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)
|
rs104894898
|
|
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)
|
rs1555973091
|
|
NM_000475.5(NR0B1):c.652dup (p.Thr218fs)
|
rs1555973092
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)
|
rs104894889
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000475.5(NR0B1):c.754del (p.Gln252fs)
|
rs1555973063
|
|
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)
|
rs1311271225
|
|
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
|
|
|
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)
|
rs1555973058
|
|
NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter)
|
rs104894887
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter)
|
rs104894895
|
|
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)
|
rs753734546
|
|
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
|
|
|
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)
|
rs1555973031
|
|
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
|
rs104894890
|
|
NM_000475.5(NR0B1):c.851TGGTGC[1] (p.284LV[1])
|
rs1601792367
|
|
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)
|
rs1555973021
|
|
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)
|
rs1489209061
|
|
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)
|
rs28935482
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)
|
rs1555972994
|
|
NM_000497.3:c.[1024C>T];[1012dup]
|
|
|
NM_000497.4(CYP11B1):c.1103C>A (p.Ala368Asp)
|
rs104894071
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
|
|
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)
|
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1181del (p.Asn394fs)
|
rs1256580853
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1214del (p.Val405fs)
|
rs2130266809
|
|
NM_000497.4(CYP11B1):c.1325_1332del (p.Pro442fs)
|
rs1816889095
|
|
NM_000497.4(CYP11B1):c.1342C>T (p.Arg448Cys)
|
rs1221010438
|
|
NM_000497.4(CYP11B1):c.1343G>C (p.Arg448Pro)
|
rs28934586
|
|
NM_000497.4(CYP11B1):c.1358G>A (p.Arg453Gln)
|
rs1447069098
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.1398+5G>C
|
rs1563867837
|
|
NM_000497.4(CYP11B1):c.1438del (p.Asp480fs)
|
rs1816868757
|
|
NM_000497.4(CYP11B1):c.199del (p.Glu67fs)
|
rs780398462
|
|
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.317_344del (p.Leu106fs)
|
rs764418169
|
|
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)
|
rs104894066
|
|
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)
|
|
|
NM_000497.4(CYP11B1):c.372del (p.His125fs)
|
rs1554653520
|
|
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
|
|
|
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)
|
rs104894067
|
|
NM_000497.4(CYP11B1):c.494C>A (p.Ala165Asp)
|
rs1554653185
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.595+16G>T
|
rs1365173817
|
|
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)
|
rs866430018
|
|
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)
|
|
|
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter)
|
rs1554652999
|
|
NM_000497.4(CYP11B1):c.780G>A (p.Trp260Ter)
|
rs1554652998
|
|
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)
|
rs2130274854
|
|
NM_000497.4(CYP11B1):c.913A>T (p.Lys305Ter)
|
rs2130273191
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
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.1012C>T (p.Gln338Ter)
|
|
|
NM_000498.3(CYP11B2):c.104_109delinsG (p.Val35fs)
|
rs2130336602
|
|
NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala)
|
rs72554626
|
|
NM_000498.3(CYP11B2):c.423_428dup (p.Leu144_Asn145insArgLeu)
|
rs1817623118
|
|
NM_000498.3(CYP11B2):c.542G>C (p.Arg181Pro)
|
|
|
NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter)
|
rs121912979
|
|
NM_000498.3(CYP11B2):c.[541C>T;1157T>C]
|
|
|
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]
|
|
|
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
|
|
|
NM_000500.7(CYP21A2):c.[377C>G];[518T>A]
|
|
|
NM_000500.7(CYP21A2):c.[518T>A];[830_841delTCCTGGAAGGGC]
|
|
|
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
|
|
|
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
|
|
|
NM_000500.7:c.*28697405C>T
|
|
|
NM_000500.7:c.*28697972C>G
|
|
|
NM_000500.7:c.*28698024_*28698031del8
|
|
|
NM_000500.7:c.*28698317T>A
|
|
|
NM_000500.7:c.*28699001G>T
|
|
|
NM_000500.7:c.*28699312C>T
|
|
|
NM_000500.7:c.*28699426C>T
|
|
|
NM_000500.9(CYP21A2):c.1019G>A (p.Arg340His)
|
rs72552754
|
|
NM_000500.9(CYP21A2):c.1118+2T>C
|
rs1776240589
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
|
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
|
rs72552757
|
|
NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter)
|
rs1367112998
|
|
NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser)
|
rs1582312633
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.293-2A>G
|
rs1582302625
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln)
|
rs267606757
|
|
NM_000500.9(CYP21A2):c.433del (p.Gln145fs)
|
rs2151872060
|
|
NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr)
|
rs1582304457
|
|
NM_000500.9(CYP21A2):c.511dup (p.Ser171fs)
|
|
|
NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter)
|
rs1582304536
|
|
NM_000500.9(CYP21A2):c.651+2T>G
|
rs2151873259
|
|
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)
|
rs786204728
|
|
NM_000500.9(CYP21A2):c.833dup (p.Glu279fs)
|
rs2151874375
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.85dup (p.His29fs)
|
rs1582299448
|
|
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser)
|
rs201552310
|
|
NM_000500.9(CYP21A2):c.923del (p.Leu308fs)
|
rs267606756
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000500.9(CYP21A2):c.939+1G>C
|
rs1474566961
|
|
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T]
|
|
|
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]
|
|
|
NM_000500.9(CYP21A2):c.[710T>A;713T>A]
|
|
|
NM_000516.5:c.(?_-424)_(257_?)dup
|
|
|
NM_000516.7(GNAS):c.1A>G (p.Met1Val)
|
rs137854530
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)
|
rs11554273
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)
|
rs2089384365
|
|
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)
|
rs267607231
|
|
NM_000529.2(MC2R):c.424G>T (p.Val142Leu)
|
rs199950178
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000529.2(MC2R):c.560del (p.Val187fs)
|
rs1555619406
|
|
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)
|
rs104894659
|
|
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
|
|
|
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)
|
rs1555619377
|
|
NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)
|
rs1567895448
|
|
NM_000529.2(MC2R):c.702del (p.Phe235fs)
|
rs1555619372
|
|
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)
|
rs104894662
|
|
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)
|
rs28940892
|
|
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys)
|
rs587782529
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.158G>A (p.Trp53Ter)
|
rs876658483
|
|
NM_000546.6(TP53):c.159G>A (p.Trp53Ter)
|
rs1064794618
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)
|
rs11540654
|
|
NM_000546.6(TP53):c.375G>C (p.Thr125=)
|
rs55863639
|
|
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter)
|
rs1567554500
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)
|
rs104893827
|
|
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)
|
rs104893826
|
|
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)
|
rs5030808
|
|
NM_000551.4(VHL):c.464-2A>G
|
rs5030816
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)
|
rs724160008
|
|
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)
|
rs11540945
|
|
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)
|
rs724160010
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)
|
rs121912814
|
|
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp)
|
rs121912813
|
|
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)
|
rs1567053134
|
|
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)
|
rs121912811
|
|
NM_000781.3(CYP11A1):c.625+2dup
|
rs2060625814
|
|
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)
|
rs387906601
|
|
NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp)
|
rs2060619548
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)
|
rs587777437
|
|
NM_000890.5(KCNJ5):c.470T>G (p.Ile157Ser)
|
rs587777438
|
|
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)
|
rs387906778
|
|
NM_000890.5(KCNJ5):c.736G>A (p.Glu246Lys)
|
rs587777439
|
|
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)
|
rs724160009
|
|
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)
|
rs724160011
|
|
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)
|
rs724160012
|
|
NM_001035511.2(SDHC):c.*4656_*7660delinsGTCA
|
|
|
NM_001105247.2(ARMC5):c.1094T>C (p.Leu365Pro)
|
rs587777663
|
|
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs)
|
|
|
NM_001105247.2(ARMC5):c.1643T>C (p.Leu548Pro)
|
rs587777661
|
|
NM_001105247.2(ARMC5):c.170del (p.Gly57fs)
|
rs951869246
|
|
NM_001105247.2(ARMC5):c.174dup (p.Glu59fs)
|
rs2142561742
|
|
NM_001105247.2(ARMC5):c.2025del (p.Leu676fs)
|
rs2142578942
|
|
NM_001105247.2(ARMC5):c.2290C>T (p.Arg764Ter)
|
rs778422149
|
|
NM_001105247.2(ARMC5):c.2436del (p.Cys813fs)
|
rs2142580488
|
|
NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter)
|
rs587777660
|
|
NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp)
|
rs587777659
|
|
NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs)
|
rs2142562239
|
|
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs)
|
|
|
NM_001128840.3(CACNA1D):c.2222-1G>A
|
|
|
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)
|
rs41276445
|
|
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs)
|
rs2136119153
|
|
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)
|
rs2136118998
|
|
NM_001370259.2(MEN1):c.1013del (p.Leu338fs)
|
rs2136118927
|
|
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs)
|
rs1941717148
|
|
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)
|
rs1114167482
|
|
NM_001370259.2(MEN1):c.1024del (p.Ala342fs)
|
rs1555164986
|
|
NM_001370259.2(MEN1):c.1025_1032del (p.Ala342fs)
|
|
|
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)
|
rs1259681826
|
|
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)
|
rs2136117686
|
|
NM_001370259.2(MEN1):c.1045del (p.Gln349fs)
|
rs2136117722
|
|
NM_001370259.2(MEN1):c.1049+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+1G>C
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1049+2T>C
|
rs1555164946
|
|
NM_001370259.2(MEN1):c.1050-2A>G
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1050-2A>T
|
rs1565642765
|
|
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)
|
rs767078097
|
|
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs)
|
rs2136111335
|
|
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)
|
|
|
NM_001370259.2(MEN1):c.105dup (p.Leu36fs)
|
rs1555166711
|
|
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)
|
rs104894265
|
|
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del)
|
rs869025185
|
|
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del)
|
rs1555166695
|
|
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
|
|
|
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)
|
rs1555164707
|
|
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
|
|
|
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs)
|
rs1592640181
|
|
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)
|
rs794728616
|
|
NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)
|
|
|
NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)
|
|
|
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)
|
rs772588551
|
|
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)
|
rs1060499984
|
|
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs)
|
rs2136193574
|
|
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs)
|
rs1555164430
|
|
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)
|
rs886039419
|
|
NM_001370259.2(MEN1):c.1202del (p.Gly401fs)
|
rs1941625647
|
|
NM_001370259.2(MEN1):c.1206del (p.Ala403fs)
|
rs1941624571
|
|
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)
|
rs864622615
|
|
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs)
|
rs1114167513
|
|
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer)
|
rs1592637455
|
|
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs)
|
rs1592637440
|
|
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter)
|
rs2136102861
|
|
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs)
|
rs1114167524
|
|
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)
|
|
|
NM_001370259.2(MEN1):c.1234del (p.His412fs)
|
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)
|
rs1592637081
|
|
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)
|
rs1565652689
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)
|
|
|
NM_001370259.2(MEN1):c.1266del (p.Lys422fs)
|
rs2136101566
|
|
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
|
|
|
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del)
|
rs2136101303
|
|
NM_001370259.2(MEN1):c.1277_1350+28del
|
rs1941598294
|
|
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs)
|
rs2136101131
|
|
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)
|
|
|
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.1307G>A (p.Trp436Ter)
|
rs104894260
|
|
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)
|
rs398124435
|
|
NM_001370259.2(MEN1):c.1311del (p.Thr438fs)
|
rs1555164184
|
|
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs)
|
rs1941607846
|
|
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)
|
rs794728654
|
|
NM_001370259.2(MEN1):c.1334del (p.Gly445fs)
|
rs1565640081
|
|
NM_001370259.2(MEN1):c.1337dup (p.Phe447_Glu448insTer)
|
|
|
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)
|
rs1114167491
|
|
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)
|
|
|
NM_001370259.2(MEN1):c.1345_1346insTGTC (p.Gly449fs)
|
|
|
NM_001370259.2(MEN1):c.1346del (p.Gly449fs)
|
rs1941603016
|
|
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)
|
rs1592660101
|
|
NM_001370259.2(MEN1):c.1350+1G>A
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1G>C
|
rs863223311
|
|
NM_001370259.2(MEN1):c.1350+1_1350+11del
|
rs764570645
|
|
NM_001370259.2(MEN1):c.1350+2T>C
|
rs1555164115
|
|
NM_001370259.2(MEN1):c.1351-1G>A
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>C
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-1G>T
|
rs794728629
|
|
NM_001370259.2(MEN1):c.1351-2A>C
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2A>G
|
rs1060499986
|
|
NM_001370259.2(MEN1):c.1351-2_*132del
|
rs1565634591
|
|
NM_001370259.2(MEN1):c.1351-3_1359del
|
rs2136094253
|
|
NM_001370259.2(MEN1):c.1351-9C>G
|
rs1592634740
|
|
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs)
|
rs2136094331
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1363dup (p.Val455fs)
|
|
|
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs)
|
rs1555163883
|
|
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs)
|
rs2136092832
|
|
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs)
|
rs1114167531
|
|
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs)
|
rs1555163780
|
|
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
|
|
|
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs)
|
rs2136092746
|
|
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)
|
|
|
NM_001370259.2(MEN1):c.1393del (p.Ala465fs)
|
rs2136092552
|
|
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)
|
|
|
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs)
|
rs1592633463
|
|
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs)
|
rs1114167536
|
|
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)
|
rs1060499991
|
|
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)
|
rs1941556077
|
|
NM_001370259.2(MEN1):c.1415del (p.Gly472fs)
|
|
|
NM_001370259.2(MEN1):c.1420del (p.Glu474fs)
|
rs1592633378
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.142del (p.Leu48fs)
|
rs1555166681
|
|
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs)
|
rs2136089949
|
|
NM_001370259.2(MEN1):c.1437del (p.Arg480fs)
|
rs1941550964
|
|
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)
|
rs2136089217
|
|
NM_001370259.2(MEN1):c.1473del (p.Glu491fs)
|
rs1555163646
|
|
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
|
|
|
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs)
|
rs1555163591
|
|
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)
|
rs386833403
|
|
NM_001370259.2(MEN1):c.152dup (p.Asn51fs)
|
rs869312167
|
|
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs)
|
rs1941529928
|
|
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs)
|
rs1941531859
|
|
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs)
|
rs794728659
|
|
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)
|
rs141679530
|
|
NM_001370259.2(MEN1):c.1539del (p.Arg516fs)
|
rs1592631908
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs)
|
rs761695866
|
|
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)
|
rs794728630
|
|
NM_001370259.2(MEN1):c.1556del (p.Pro519fs)
|
rs2136084930
|
|
NM_001370259.2(MEN1):c.1574del (p.Thr525fs)
|
rs1114167514
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
NM_001370259.2(MEN1):c.1590del (p.Gly531fs)
|
rs886039421
|
|
NM_001370259.2(MEN1):c.1609del (p.Val537fs)
|
rs2136083128
|
|
NM_001370259.2(MEN1):c.160del (p.Ile54fs)
|
|
|
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)
|
|
|
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)
|
rs121913035
|
|
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs)
|
rs2136081238
|
|
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)
|
rs794728631
|
|
NM_001370259.2(MEN1):c.1660del (p.Gln554fs)
|
rs2136081113
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1670del (p.Lys557fs)
|
rs1592630079
|
|
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs)
|
rs1941501683
|
|
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)
|
rs1565635941
|
|
NM_001370259.2(MEN1):c.168del (p.Asn57fs)
|
rs1060499990
|
|
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs)
|
rs1114167523
|
|
NM_001370259.2(MEN1):c.1705_1706del (p.Lys569fs)
|
|
|
NM_001370259.2(MEN1):c.1738_1739insAA (p.Thr580fs)
|
|
|
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)
|
|
|
NM_001370259.2(MEN1):c.195del (p.Ser66fs)
|
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)
|
rs1942027113
|
|
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.201del (p.Ala68fs)
|
rs2136189816
|
|
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs)
|
rs730882136
|
|
NM_001370259.2(MEN1):c.207del (p.Asp70fs)
|
rs1057517902
|
|
NM_001370259.2(MEN1):c.208_211del (p.Asp70fs)
|
|
|
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs)
|
rs386134251
|
|
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)
|
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.234del (p.Val80fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.234dup (p.Pro79fs)
|
rs2136188431
|
|
NM_001370259.2(MEN1):c.237del (p.Val80fs)
|
rs1114167486
|
|
NM_001370259.2(MEN1):c.238del (p.Val80fs)
|
rs2136188216
|
|
NM_001370259.2(MEN1):c.241del (p.Ala81fs)
|
|
|
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs)
|
rs2136187161
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)
|
|
|
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs)
|
rs1941994887
|
|
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter)
|
rs2136187018
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs)
|
rs1555166494
|
|
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)
|
|
|
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)
|
rs886039413
|
|
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)
|
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs)
|
rs1592658517
|
|
NM_001370259.2(MEN1):c.313dup (p.Leu105fs)
|
rs2136184555
|
|
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs)
|
rs1555166466
|
|
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)
|
rs1060499987
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)
|
rs794728647
|
|
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs)
|
rs1565651568
|
|
NM_001370259.2(MEN1):c.323del (p.Arg108fs)
|
rs878855191
|
|
NM_001370259.2(MEN1):c.332del (p.Gly111fs)
|
|
|
NM_001370259.2(MEN1):c.340dup (p.Ser114fs)
|
rs886041213
|
|
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
|
|
|
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)
|
rs1060499992
|
|
NM_001370259.2(MEN1):c.350del (p.Leu117fs)
|
rs1555166387
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)
|
rs878855192
|
|
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)
|
rs794728614
|
|
NM_001370259.2(MEN1):c.35dup (p.Leu13fs)
|
|
|
NM_001370259.2(MEN1):c.367del (p.Asp123fs)
|
rs1941982919
|
|
NM_001370259.2(MEN1):c.371_372del (p.Val124fs)
|
rs1555166368
|
|
NM_001370259.2(MEN1):c.374dup (p.Trp126fs)
|
|
|
NM_001370259.2(MEN1):c.375_376del (p.Ile125fs)
|
|
|
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)
|
rs2136181049
|
|
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)
|
rs1555166365
|
|
NM_001370259.2(MEN1):c.386del (p.Leu129fs)
|
rs1565651223
|
|
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs)
|
rs1592657785
|
|
NM_001370259.2(MEN1):c.407_414del (p.Asp136fs)
|
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)
|
rs104894263
|
|
NM_001370259.2(MEN1):c.416del (p.His139fs)
|
|
|
NM_001370259.2(MEN1):c.418dup (p.Ile140fs)
|
|
|
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)
|
|
|
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)
|
rs886039553
|
|
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)
|
|
|
NM_001370259.2(MEN1):c.432del (p.Phe144fs)
|
rs1064793613
|
|
NM_001370259.2(MEN1):c.442del (p.Thr148fs)
|
rs1941975256
|
|
NM_001370259.2(MEN1):c.446-1G>A
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-1G>C
|
rs1064793672
|
|
NM_001370259.2(MEN1):c.446-2A>C
|
rs886042035
|
|
NM_001370259.2(MEN1):c.446-2A>G
|
rs886042035
|
|
NM_001370259.2(MEN1):c.446-3C>G
|
|
|
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)
|
rs1565648789
|
|
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)
|
rs1085307471
|
|
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)
|
rs794728648
|
|
NM_001370259.2(MEN1):c.474del (p.Phe159fs)
|
rs2136158237
|
|
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)
|
rs1565648656
|
|
NM_001370259.2(MEN1):c.492del (p.Cys165fs)
|
|
|
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)
|
rs1592651767
|
|
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)
|
rs386134256
|
|
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs)
|
rs2136156268
|
|
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs)
|
rs1941864588
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter)
|
rs2136154587
|
|
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)
|
rs1555165811
|
|
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr)
|
rs1555165809
|
|
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)
|
rs1941861451
|
|
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)
|
rs794728650
|
|
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)
|
|
|
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)
|
rs2136153753
|
|
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)
|
rs104894262
|
|
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs)
|
rs1555165756
|
|
NM_001370259.2(MEN1):c.564del (p.Asn189fs)
|
|
|
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)
|
|
|
NM_001370259.2(MEN1):c.578dup (p.Ala194fs)
|
|
|
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)
|
|
|
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)
|
rs104894258
|
|
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)
|
rs104894257
|
|
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
|
|
|
NM_001370259.2(MEN1):c.623_1050-143del
|
|
|
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)
|
rs1565647767
|
|
NM_001370259.2(MEN1):c.625del (p.Gln209fs)
|
rs1114167538
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370259.2(MEN1):c.631_634del (p.Val211fs)
|
rs1941851693
|
|
NM_001370259.2(MEN1):c.633del (p.Asn212fs)
|
rs878855196
|
|
NM_001370259.2(MEN1):c.639del (p.Gly214fs)
|
rs1941850919
|
|
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)
|
rs794728621
|
|
NM_001370259.2(MEN1):c.646del (p.Ala216fs)
|
rs2136148702
|
|
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)
|
rs794728620
|
|
NM_001370259.2(MEN1):c.654+1G>A
|
rs794728622
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.655-1G>A
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-1G>C
|
rs1592649615
|
|
NM_001370259.2(MEN1):c.655-2A>G
|
|
|
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)
|
rs1565647197
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)
|
rs886039414
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)
|
rs778921501
|
|
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs)
|
rs1114167519
|
|
NM_001370259.2(MEN1):c.685del (p.Arg229fs)
|
|
|
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)
|
rs1114167499
|
|
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.6dup (p.Leu3fs)
|
rs2136197117
|
|
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)
|
rs794728624
|
|
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs)
|
rs1592649069
|
|
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)
|
rs2136141530
|
|
NM_001370259.2(MEN1):c.734del (p.Pro245fs)
|
rs1565646772
|
|
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)
|
rs1555165503
|
|
NM_001370259.2(MEN1):c.739dup (p.Ile247fs)
|
rs2136141104
|
|
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)
|
rs1592648830
|
|
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.758del (p.Ser253fs)
|
rs1592648765
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)
|
rs28931612
|
|
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3])
|
rs1555165485
|
|
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)
|
rs886039416
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)
|
rs1057520733
|
|
NM_001370259.2(MEN1):c.783+1G>A
|
rs794728652
|
|
NM_001370259.2(MEN1):c.783+1G>C
|
rs794728652
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)
|
rs1941794175
|
|
NM_001370259.2(MEN1):c.792del (p.Trp265fs)
|
|
|
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)
|
rs2136134076
|
|
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)
|
rs1592647398
|
|
NM_001370259.2(MEN1):c.823del (p.Arg275fs)
|
rs1555165360
|
|
NM_001370259.2(MEN1):c.824+1G>A
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824+1G>T
|
rs1060499976
|
|
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)
|
rs1187634059
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.831del (p.Met278fs)
|
rs2136129908
|
|
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)
|
|
|
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)
|
|
|
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)
|
rs1565645563
|
|
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)
|
rs2136129231
|
|
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)
|
rs794728615
|
|
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)
|
|
|
NM_001370259.2(MEN1):c.879del (p.Gly294fs)
|
|
|
NM_001370259.2(MEN1):c.881dup (p.Arg295fs)
|
|
|
NM_001370259.2(MEN1):c.912+1G>A
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+1G>C
|
rs398124437
|
|
NM_001370259.2(MEN1):c.912+2T>G
|
rs1555165256
|
|
NM_001370259.2(MEN1):c.913-1G>A
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-1G>C
|
rs1057518572
|
|
NM_001370259.2(MEN1):c.913-2A>G
|
rs1114167498
|
|
NM_001370259.2(MEN1):c.935_936insTCGGGATGAA (p.Tyr313fs)
|
|
|
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)
|
rs386134260
|
|
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)
|
rs1555165128
|
|
NM_001370259.2(MEN1):c.940_1050-227del
|
|
|
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
|
|
|
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)
|
rs2136120898
|
|
NM_001370259.2(MEN1):c.960dup (p.Tyr321fs)
|
|
|
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)
|
rs1555165094
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)
|
rs1592643488
|
|
NM_001379228.1(MRAP):c.106+1G>A
|
rs566223651
|
|
NM_001379228.1(MRAP):c.106+1G>T
|
rs566223651
|
|
NM_001379228.1(MRAP):c.106+3_106+4insT
|
|
|
NM_001379228.1(MRAP):c.130del (p.Trp43_Val44insTer)
|
rs760615045
|
|
NM_001379228.1(MRAP):c.17_23del (p.Asn6fs)
|
rs1569025178
|
|
NM_001379228.1(MRAP):c.1A>G (p.Met1Val)
|
rs1555897462
|
|
NM_001395413.1(POR):c.1020del (p.Asp341fs)
|
|
|
NM_001395413.1(POR):c.1044del (p.Asn349fs)
|
|
|
NM_001395413.1(POR):c.1103_1109del (p.Arg368fs)
|
|
|
NM_001395413.1(POR):c.115del (p.Thr39fs)
|
|
|
NM_001395413.1(POR):c.1172del (p.Gln391fs)
|
|
|
NM_001395413.1(POR):c.1178CCTCGGAGC[1] (p.Pro396_Glu398del)
|
|
|
NM_001395413.1(POR):c.1231G>T (p.Glu411Ter)
|
|
|
NM_001395413.1(POR):c.1320del (p.Ile441fs)
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1337_1338dup (p.Leu447fs)
|
|
|
NM_001395413.1(POR):c.1406_1407del (p.Val469fs)
|
rs782395275
|
|
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)
|
rs373613946
|
|
NM_001395413.1(POR):c.1434C>G (p.Tyr478Ter)
|
|
|
NM_001395413.1(POR):c.1442_1446del (p.Lys481fs)
|
|
|
NM_001395413.1(POR):c.1492G>T (p.Glu498Ter)
|
|
|
NM_001395413.1(POR):c.1519_1561dup (p.Pro521fs)
|
|
|
NM_001395413.1(POR):c.1523_1542dup (p.Lys515fs)
|
|
|
NM_001395413.1(POR):c.1562_1610dup (p.Ala538fs)
|
rs1563435458
|
|
NM_001395413.1(POR):c.1613dup (p.Pro539fs)
|
|
|
NM_001395413.1(POR):c.1631_1634del (p.Ile544fs)
|
|
|
NM_001395413.1(POR):c.1675dup (p.Glu559fs)
|
|
|
NM_001395413.1(POR):c.1676_1679dup (p.Leu561fs)
|
rs781914230
|
|
NM_001395413.1(POR):c.1690_1691dup (p.Gly565fs)
|
|
|
NM_001395413.1(POR):c.1792del (p.Glu598fs)
|
|
|
NM_001395413.1(POR):c.1795C>T (p.Gln599Ter)
|
|
|
NM_001395413.1(POR):c.1807-1G>A
|
|
|
NM_001395413.1(POR):c.1813G>T (p.Val605Phe)
|
rs72552772
|
|
NM_001395413.1(POR):c.251dup (p.Tyr84Ter)
|
|
|
NM_001395413.1(POR):c.259C>T (p.Gln87Ter)
|
|
|
NM_001395413.1(POR):c.322C>T (p.Arg108Ter)
|
rs1181572912
|
|
NM_001395413.1(POR):c.385_386dup (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.386del (p.Asp129fs)
|
|
|
NM_001395413.1(POR):c.40G>T (p.Glu14Ter)
|
|
|
NM_001395413.1(POR):c.458del (p.Tyr153fs)
|
|
|
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)
|
rs72552771
|
|
NM_001395413.1(POR):c.64_65del (p.Leu22fs)
|
|
|
NM_001395413.1(POR):c.658C>T (p.Arg220Ter)
|
|
|
NM_001395413.1(POR):c.697del (p.Val233fs)
|
|
|
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
|
|
|
NM_001395413.1(POR):c.768del (p.Lys257fs)
|
|
|
NM_001395413.1(POR):c.828del (p.Phe276fs)
|
|
|
NM_001395413.1(POR):c.955dup (p.His319fs)
|
|
|
NM_001395413.1(POR):c.981_988dup (p.Leu330fs)
|
|
|
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
NM_002382.5(MAX):c.120del (p.Asp41fs)
|
rs1595166895
|
|
NM_002382.5(MAX):c.183_195del (p.Gln62fs)
|
|
|
NM_002382.5(MAX):c.205_206del (p.Glu69fs)
|
rs2139755167
|
|
NM_002382.5(MAX):c.211_221del (p.Ile71fs)
|
rs1060500101
|
|
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)
|
rs1193255946
|
|
NM_002382.5(MAX):c.228del (p.Asn78fs)
|
rs1555340550
|
|
NM_002382.5(MAX):c.22G>T (p.Glu8Ter)
|
rs752477890
|
|
NM_002382.5(MAX):c.234_235dup (p.His79fs)
|
|
|
NM_002382.5(MAX):c.242_243dup (p.Gln82fs)
|
rs2063104408
|
|
NM_002382.5(MAX):c.295+1G>A
|
rs786203385
|
|
NM_002382.5(MAX):c.295+1G>T
|
rs786203385
|
|
NM_002382.5(MAX):c.295+2_295+3del
|
rs2063102803
|
|
NM_002382.5(MAX):c.37_38del (p.Glu13fs)
|
|
|
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)
|
rs2139963878
|
|
NM_002382.5(MAX):c.91del (p.Leu31fs)
|
rs2139886197
|
|
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)
|
rs387906651
|
|
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)
|
rs386352352
|
|
NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp)
|
rs724160013
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_003000.2(SDHB):c.-151_*159del
|
|
|
NM_003000.2(SDHB):c.1_72del (p.Met1_Gln24del)
|
rs1553179313
|
|
NM_003000.2(SDHB):c.287_540del
|
|
|
NM_003000.2(SDHB):c.445_447delinsGGTATCT (p.Gln149fs)
|
rs1553177687
|
|
NM_003000.2(SDHB):c.523_527delinsAAGG (p.Glu175fs)
|
rs1553177672
|
|
NM_003000.2:c.73_846del
|
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.112del (p.Arg38fs)
|
rs398123690
|
|
NM_003000.3(SDHB):c.126del (p.Phe42fs)
|
rs878854572
|
|
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
|
|
|
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)
|
rs1351034939
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)
|
rs772551056
|
|
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)
|
rs1060503762
|
|
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)
|
rs1570958038
|
|
NM_003000.3(SDHB):c.146del (p.Pro49fs)
|
|
|
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)
|
rs1570958022
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)
|
rs2101551903
|
|
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)
|
rs760169139
|
|
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
|
|
|
NM_003000.3(SDHB):c.190del (p.Asp64fs)
|
rs1553178729
|
|
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)
|
rs876659329
|
|
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)
|
rs1553179340
|
|
NM_003000.3(SDHB):c.1A>G (p.Met1Val)
|
|
|
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)
|
rs1131691049
|
|
NM_003000.3(SDHB):c.1_843del
|
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+1G>C
|
rs2101541309
|
|
NM_003000.3(SDHB):c.200+5G>C
|
rs1553178726
|
|
NM_003000.3(SDHB):c.201-1G>C
|
|
|
NM_003000.3(SDHB):c.201-2A>C
|
rs878854574
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
NM_003000.3(SDHB):c.210dup (p.Met71fs)
|
rs794728947
|
|
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)
|
rs1060503767
|
|
NM_003000.3(SDHB):c.22dup (p.Ser8fs)
|
rs2101551846
|
|
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)
|
rs2101528972
|
|
NM_003000.3(SDHB):c.249del (p.Asp84fs)
|
rs2101528951
|
|
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)
|
rs727504457
|
|
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)
|
rs786203800
|
|
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)
|
rs878854575
|
|
NM_003000.3(SDHB):c.274T>C (p.Ser92Pro)
|
rs1553178041
|
|
NM_003000.3(SDHB):c.275C>A (p.Ser92Ter)
|
rs1553178040
|
|
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)
|
rs727503415
|
|
NM_003000.3(SDHB):c.286+1G>A
|
rs786201063
|
|
NM_003000.3(SDHB):c.286+2T>A
|
rs587781270
|
|
NM_003000.3(SDHB):c.287-1G>C
|
rs397516833
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.287-3C>G
|
rs1553177772
|
|
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
|
|
|
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)
|
rs121917755
|
|
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)
|
rs74315371
|
|
NM_003000.3(SDHB):c.305_315del (p.Ala102fs)
|
|
|
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)
|
rs786201316
|
|
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)
|
rs2101523248
|
|
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)
|
rs1060503751
|
|
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)
|
rs864321636
|
|
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)
|
rs864321636
|
|
NM_003000.3(SDHB):c.369_370insA (p.Val124fs)
|
rs1553177742
|
|
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)
|
rs786203506
|
|
NM_003000.3(SDHB):c.392del (p.Pro131fs)
|
rs1553177739
|
|
NM_003000.3(SDHB):c.395A>C (p.His132Pro)
|
rs74315372
|
|
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)
|
rs1557741425
|
|
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)
|
rs1131691061
|
|
NM_003000.3(SDHB):c.412del (p.Asp138fs)
|
rs2101522958
|
|
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)
|
rs1570948527
|
|
NM_003000.3(SDHB):c.423+1G>T
|
rs398122805
|
|
NM_003000.3(SDHB):c.424-1G>A
|
rs1131691060
|
|
NM_003000.3(SDHB):c.424-2A>G
|
rs2101521922
|
|
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)
|
rs2101551748
|
|
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)
|
rs1060503763
|
|
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)
|
rs876658451
|
|
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)
|
rs2101521836
|
|
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)
|
rs1553177688
|
|
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)
|
rs2101521812
|
|
NM_003000.3(SDHB):c.466del (p.Tyr156fs)
|
rs2101521760
|
|
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)
|
rs2077999823
|
|
NM_003000.3(SDHB):c.473del (p.Lys158fs)
|
|
|
NM_003000.3(SDHB):c.481del (p.Asp161fs)
|
rs794728949
|
|
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)
|
rs2101521715
|
|
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter)
|
rs1553177679
|
|
NM_003000.3(SDHB):c.491del (p.Gln164fs)
|
rs1553177678
|
|
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)
|
rs1060503753
|
|
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)
|
rs1553177677
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
|
|
|
NM_003000.3(SDHB):c.523dup (p.Glu175fs)
|
rs2077999421
|
|
NM_003000.3(SDHB):c.526G>T (p.Glu176Ter)
|
rs794728946
|
|
NM_003000.3(SDHB):c.537dup (p.Leu180fs)
|
rs1553177669
|
|
NM_003000.3(SDHB):c.541-2A>G
|
rs786201161
|
|
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)
|
rs1045881797
|
|
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
|
rs1553177440
|
|
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)
|
rs876658540
|
|
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.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.598del (p.Trp200fs)
|
rs2101516424
|
|
NM_003000.3(SDHB):c.598dup (p.Trp200fs)
|
rs2101516417
|
|
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)
|
rs397516836
|
|
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)
|
rs1060503759
|
|
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)
|
|
|
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)
|
rs1131691050
|
|
NM_003000.3(SDHB):c.605dup (p.Asn202fs)
|
rs1131691053
|
|
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
|
|
|
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)
|
rs587782617
|
|
NM_003000.3(SDHB):c.608del (p.Gly203fs)
|
rs1553177436
|
|
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)
|
rs1570945796
|
|
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)
|
rs1060503752
|
|
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
|
|
|
NM_003000.3(SDHB):c.637dup (p.Met213fs)
|
|
|
NM_003000.3(SDHB):c.63dup (p.Cys22fs)
|
rs1570963451
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.642+1G>A
|
rs1131691052
|
|
NM_003000.3(SDHB):c.642+2T>G
|
rs1553177424
|
|
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)
|
rs200245469
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)
|
rs916516745
|
|
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)
|
rs1570944850
|
|
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
|
|
|
NM_003000.3(SDHB):c.677del (p.Phe226fs)
|
rs2077968833
|
|
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
|
|
|
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)
|
rs762812025
|
|
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)
|
rs1209914140
|
|
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
|
|
|
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)
|
rs587782604
|
|
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)
|
rs1553177285
|
|
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
|
|
|
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)
|
rs1570963430
|
|
NM_003000.3(SDHB):c.713del (p.Phe238fs)
|
rs876660642
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
NM_003000.3(SDHB):c.717dup (p.Leu240fs)
|
rs1060503764
|
|
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)
|
rs794728950
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+1G>A
|
rs587782703
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)
|
rs786203251
|
|
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)
|
rs786203251
|
|
NM_003000.3(SDHB):c.73-9A>G
|
rs1553178757
|
|
NM_003000.3(SDHB):c.736A>T (p.Ile246Phe)
|
rs146800605
|
|
NM_003000.3(SDHB):c.743_765+36del
|
rs2101513438
|
|
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
|
|
|
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)
|
rs786201085
|
|
NM_003000.3(SDHB):c.75del (p.Ser26fs)
|
rs2101541632
|
|
NM_003000.3(SDHB):c.761_765+33del
|
rs2077967597
|
|
NM_003000.3(SDHB):c.761dup (p.Pro254_Lys255insTer)
|
rs34309090
|
|
NM_003000.3(SDHB):c.765+1G>A
|
rs2101513511
|
|
NM_003000.3(SDHB):c.784del (p.Ala262fs)
|
|
|
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
|
|
|
NM_003000.3(SDHB):c.88del (p.Gln30fs)
|
rs747198089
|
|
NM_003001.3(SDHC):c.406-?_*2318+?del
|
|
|
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
|
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.124del (p.Trp42fs)
|
rs2102307803
|
|
NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)
|
|
|
NM_003001.5(SDHC):c.175del (p.Tyr59fs)
|
rs1671157149
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)
|
rs1553260596
|
|
NM_003001.5(SDHC):c.183del (p.Trp61fs)
|
rs1671684409
|
|
NM_003001.5(SDHC):c.1A>C (p.Met1Leu)
|
|
|
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)
|
rs755235380
|
|
NM_003001.5(SDHC):c.20+4066C>G
|
|
|
NM_003001.5(SDHC):c.21-1G>A
|
|
|
NM_003001.5(SDHC):c.21-2A>G
|
rs1131691062
|
|
NM_003001.5(SDHC):c.21-3C>G
|
rs1670921815
|
|
NM_003001.5(SDHC):c.214del (p.Arg72fs)
|
rs2102336244
|
|
NM_003001.5(SDHC):c.215del (p.Arg72fs)
|
rs1553264218
|
|
NM_003001.5(SDHC):c.220dup (p.Thr74fs)
|
|
|
NM_003001.5(SDHC):c.233dup (p.Leu78fs)
|
rs1571869304
|
|
NM_003001.5(SDHC):c.247dup (p.Ser83fs)
|
rs1672284298
|
|
NM_003001.5(SDHC):c.248_251del (p.Ser83fs)
|
|
|
NM_003001.5(SDHC):c.250_251del (p.Leu84fs)
|
rs2102370242
|
|
NM_003001.5(SDHC):c.278dup (p.Gly94fs)
|
rs1483039185
|
|
NM_003001.5(SDHC):c.288dup (p.Glu97Ter)
|
|
|
NM_003001.5(SDHC):c.2T>C (p.Met1Thr)
|
|
|
NM_003001.5(SDHC):c.349_350del (p.Lys117fs)
|
rs1672291512
|
|
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)
|
rs1553265817
|
|
NM_003001.5(SDHC):c.379C>T (p.His127Tyr)
|
rs1485675090
|
|
NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)
|
rs1672294906
|
|
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)
|
rs981049067
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
NM_003001.5(SDHC):c.405+1G>A
|
rs587776653
|
|
NM_003001.5(SDHC):c.405+1G>C
|
rs587776653
|
|
NM_003001.5(SDHC):c.407_*1del (p.Met136_Ter170delinsXaa)
|
rs1553266474
|
|
NM_003001.5(SDHC):c.49del (p.His17fs)
|
|
|
NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)
|
|
|
NM_003001.5(SDHC):c.86del (p.Pro29fs)
|
rs1671145065
|
|
NM_003002.3(SDHD):c.-84_*831del
|
|
|
NM_003002.3:c.1_169del
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
NM_003002.4(SDHD):c.10dup (p.Leu4fs)
|
rs878854589
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)
|
rs1865654197
|
|
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)
|
rs1865655347
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
|
|
|
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
|
|
|
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)
|
rs1865655722
|
|
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)
|
rs1566690018
|
|
NM_003002.4(SDHD):c.147dup (p.His50fs)
|
rs876659130
|
|
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
|
rs104894310
|
|
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
|
|
|
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)
|
rs587782210
|
|
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
|
|
|
NM_003002.4(SDHD):c.169+1G>A
|
rs2135267557
|
|
NM_003002.4(SDHD):c.169+1G>T
|
rs2135267557
|
|
NM_003002.4(SDHD):c.170-1G>T
|
rs1306475361
|
|
NM_003002.4(SDHD):c.170-2A>G
|
|
|
NM_003002.4(SDHD):c.173del (p.Gly58fs)
|
rs878854590
|
|
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)
|
rs1555186662
|
|
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)
|
rs387906358
|
|
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
|
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)
|
rs1865686266
|
|
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
|
|
|
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys)
|
rs755047928
|
|
NM_003002.4(SDHD):c.224del (p.Leu75fs)
|
rs2135269378
|
|
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)
|
rs1555187010
|
|
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
|
|
|
NM_003002.4(SDHD):c.242del (p.Pro81fs)
|
rs878854591
|
|
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
|
|
|
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
|
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)
|
rs2135269697
|
|
NM_003002.4(SDHD):c.283del (p.Leu95fs)
|
rs2135269692
|
|
NM_003002.4(SDHD):c.288del (p.Ala97fs)
|
rs2135269740
|
|
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)
|
rs786203067
|
|
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
|
|
|
NM_003002.4(SDHD):c.305A>G (p.His102Arg)
|
rs104894302
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
NM_003002.4(SDHD):c.314+1G>A
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314+1G>T
|
rs1555187083
|
|
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)
|
rs1131691065
|
|
NM_003002.4(SDHD):c.315-2A>T
|
|
|
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)
|
rs1060503769
|
|
NM_003002.4(SDHD):c.315_480del (p.Trp105fs)
|
rs1555187570
|
|
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)
|
rs1555187574
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)
|
rs1060503770
|
|
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)
|
rs1555187583
|
|
NM_003002.4(SDHD):c.337_338insT (p.Asp113fs)
|
rs587776645
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)
|
rs104894304
|
|
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
|
|
|
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)
|
rs1050032491
|
|
NM_003002.4(SDHD):c.352del (p.Asp118fs)
|
rs1131691064
|
|
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)
|
rs878854594
|
|
NM_003002.4(SDHD):c.381del (p.Leu128fs)
|
rs1555187601
|
|
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)
|
rs864321644
|
|
NM_003002.4(SDHD):c.388dup (p.Ala130fs)
|
rs1131691063
|
|
NM_003002.4(SDHD):c.394del (p.Ser132fs)
|
rs1060503773
|
|
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
|
|
|
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)
|
rs80338847
|
|
NM_003002.4(SDHD):c.443del (p.Gly148fs)
|
rs587776646
|
|
NM_003002.4(SDHD):c.463del (p.Met155fs)
|
rs587776647
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003002.4(SDHD):c.52+1G>A
|
rs1592777386
|
|
NM_003002.4(SDHD):c.52+2T>C
|
rs587776644
|
|
NM_003002.4(SDHD):c.52+2T>G
|
rs587776644
|
|
NM_003002.4(SDHD):c.53dup (p.Leu19fs)
|
rs886041237
|
|
NM_003002.4(SDHD):c.57del (p.Leu20fs)
|
rs587776649
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)
|
rs397514034
|
|
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)
|
rs104894305
|
|
NM_004168.4(SDHA):c.1012del (p.Ala338fs)
|
rs1295239305
|
|
NM_004168.4(SDHA):c.1032_1033del (p.Arg345fs)
|
rs2126578081
|
|
NM_004168.4(SDHA):c.1035del (p.Ser346fs)
|
rs2126578126
|
|
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs)
|
|
|
NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter)
|
|
|
NM_004168.4(SDHA):c.1099C>T (p.Gln367Ter)
|
|
|
NM_004168.4(SDHA):c.1123C>T (p.Gln375Ter)
|
rs1735691933
|
|
NM_004168.4(SDHA):c.1133dup (p.Arg379fs)
|
|
|
NM_004168.4(SDHA):c.1138del (p.Leu380fs)
|
|
|
NM_004168.4(SDHA):c.1245dup (p.Asn416fs)
|
rs2126585710
|
|
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs)
|
rs1385076821
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1354del (p.Leu452fs)
|
|
|
NM_004168.4(SDHA):c.1396del (p.Ala466fs)
|
|
|
NM_004168.4(SDHA):c.1397dup (p.Cys467fs)
|
rs1735798915
|
|
NM_004168.4(SDHA):c.1414G>T (p.Glu472Ter)
|
|
|
NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs)
|
|
|
NM_004168.4(SDHA):c.1438A>T (p.Lys480Ter)
|
|
|
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter)
|
rs1554000360
|
|
NM_004168.4(SDHA):c.1470_1473dup (p.Ser492fs)
|
rs2126602655
|
|
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
|
|
|
NM_004168.4(SDHA):c.1477_1478del (p.Val493fs)
|
|
|
NM_004168.4(SDHA):c.1494_1516del (p.Lys498fs)
|
|
|
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)
|
rs1064793567
|
|
NM_004168.4(SDHA):c.1526del (p.Ser509fs)
|
|
|
NM_004168.4(SDHA):c.1547dup (p.Lys517fs)
|
rs1554000378
|
|
NM_004168.4(SDHA):c.1552-2591A>G
|
|
|
NM_004168.4(SDHA):c.1558C>T (p.Gln520Ter)
|
rs2126631964
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter)
|
|
|
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)
|
rs1560985916
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1656del (p.Phe552fs)
|
rs1736795573
|
|
NM_004168.4(SDHA):c.1658_1661del (p.Asp553fs)
|
rs2126632404
|
|
NM_004168.4(SDHA):c.1663+1G>C
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
|
|
|
NM_004168.4(SDHA):c.168del (p.Pro56_Val57insTer)
|
|
|
NM_004168.4(SDHA):c.1716dup (p.Leu573fs)
|
|
|
NM_004168.4(SDHA):c.171dup (p.Val58fs)
|
rs1553997323
|
|
NM_004168.4(SDHA):c.1741G>T (p.Gly581Ter)
|
|
|
NM_004168.4(SDHA):c.1743_1744del (p.Ala582fs)
|
rs2126633505
|
|
NM_004168.4(SDHA):c.1752_1753inv (p.Arg585Trp)
|
|
|
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs)
|
rs1561010916
|
|
NM_004168.4(SDHA):c.1764dup (p.Arg589fs)
|
rs2126633648
|
|
NM_004168.4(SDHA):c.17_18insA (p.Leu7fs)
|
|
|
NM_004168.4(SDHA):c.181G>T (p.Glu61Ter)
|
rs1734884330
|
|
NM_004168.4(SDHA):c.1846A>T (p.Lys616Ter)
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1del (p.Met1fs)
|
rs1085307796
|
|
NM_004168.4(SDHA):c.214dup (p.Ala72fs)
|
rs1734887425
|
|
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter)
|
rs878854631
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
|
|
|
NM_004168.4(SDHA):c.245_252del (p.Glu82fs)
|
rs1734890180
|
|
NM_004168.4(SDHA):c.253_256dup (p.Asn86delinsIleTer)
|
rs1560986132
|
|
NM_004168.4(SDHA):c.267T>A (p.Cys89Ter)
|
rs1579381753
|
|
NM_004168.4(SDHA):c.28del (p.Leu10fs)
|
rs1579369841
|
|
NM_004168.4(SDHA):c.298_299del (p.Thr100fs)
|
rs2126543272
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
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.304dup (p.Ala102fs)
|
|
|
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter)
|
rs1423978863
|
|
NM_004168.4(SDHA):c.310_311dup (p.Gln104fs)
|
rs876658637
|
|
NM_004168.4(SDHA):c.322_323del (p.Asn108fs)
|
rs2126546657
|
|
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
|
|
|
NM_004168.4(SDHA):c.336del (p.Asn113fs)
|
|
|
NM_004168.4(SDHA):c.351del (p.Asp117fs)
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)
|
rs1553997617
|
|
NM_004168.4(SDHA):c.392_396dup (p.Leu133fs)
|
rs2126547233
|
|
NM_004168.4(SDHA):c.3G>A (p.Met1Ile)
|
|
|
NM_004168.4(SDHA):c.3G>C (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.3G>T (p.Met1Ile)
|
rs2126522051
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.447del (p.Val150fs)
|
rs2126547751
|
|
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter)
|
rs778737664
|
|
NM_004168.4(SDHA):c.457-1G>A
|
|
|
NM_004168.4(SDHA):c.457-2A>G
|
rs2126549179
|
|
NM_004168.4(SDHA):c.457-2_457del
|
rs878854632
|
|
NM_004168.4(SDHA):c.464del (p.Asn155fs)
|
|
|
NM_004168.4(SDHA):c.466del (p.Tyr156fs)
|
|
|
NM_004168.4(SDHA):c.467dup (p.Tyr156Ter)
|
rs2126549281
|
|
NM_004168.4(SDHA):c.468T>G (p.Tyr156Ter)
|
rs989318548
|
|
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)
|
rs1560980939
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)
|
rs1579385645
|
|
NM_004168.4(SDHA):c.514_517dup (p.Phe173fs)
|
|
|
NM_004168.4(SDHA):c.554dup (p.Ala186fs)
|
rs1173940446
|
|
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
|
|
|
NM_004168.4(SDHA):c.5C>A (p.Ser2Ter)
|
rs780064103
|
|
NM_004168.4(SDHA):c.5dup (p.Val4fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)
|
rs1579386206
|
|
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)
|
rs775143272
|
|
NM_004168.4(SDHA):c.633T>G (p.Tyr211Ter)
|
rs1307665893
|
|
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
|
|
|
NM_004168.4(SDHA):c.64-2A>G
|
rs762456298
|
|
NM_004168.4(SDHA):c.644_645del (p.Tyr215fs)
|
rs1560989804
|
|
NM_004168.4(SDHA):c.65G>A (p.Trp22Ter)
|
rs2126539382
|
|
NM_004168.4(SDHA):c.667del (p.Asp223fs)
|
rs587782077
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.699del (p.Val234fs)
|
rs1175771583
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.757_758del (p.Val253fs)
|
rs1553998254
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.775del (p.Tyr259fs)
|
rs1553998606
|
|
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
|
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.79C>T (p.Gln27Ter)
|
rs1734829878
|
|
NM_004168.4(SDHA):c.83dup (p.Gly29fs)
|
rs1734830402
|
|
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.897_1260+1del
|
|
|
NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)
|
rs1579402188
|
|
NM_004168.4(SDHA):c.943G>T (p.Gly315Ter)
|
|
|
NM_004168.4(SDHA):c.954del (p.Ile319fs)
|
|
|
NM_004168.4(SDHA):c.970G>T (p.Glu324Ter)
|
|
|
NM_004168.4(SDHA):c.988dup (p.Tyr330fs)
|
|
|
NM_004168.4(SDHA):c.989dup (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.99_108del (p.Phe33fs)
|
rs1734832099
|
|
NM_004168.4(SDHA):c.99dup (p.His34fs)
|
|
|
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer)
|
rs606231222
|
|
NM_004285.4(H6PD):c.325del (p.Arg109fs)
|
rs398122818
|
|
NM_004366.6(CLCN2):c.1084A>T (p.Lys362Ter)
|
rs1553856214
|
|
NM_004366.6(CLCN2):c.2593A>C (p.Ser865Arg)
|
rs1553853557
|
|
NM_004366.6(CLCN2):c.65T>A (p.Met22Lys)
|
rs758379595
|
|
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)
|
rs1085307938
|
|
NM_004366.6(CLCN2):c.76T>A (p.Tyr26Asn)
|
rs1553857113
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
NM_005525.4(HSD11B1):c.561G>T (p.Lys187Asn)
|
rs756817759
|
|
NM_013335.4(GMPPA):c.1000A>C (p.Thr334Pro)
|
rs397518461
|
|
NM_013335.4(GMPPA):c.1118G>C (p.Ser373Thr)
|
rs1694593071
|
|
NM_013335.4(GMPPA):c.118del (p.His40fs)
|
|
|
NM_013335.4(GMPPA):c.210del (p.Ala71fs)
|
rs886037654
|
|
NM_013335.4(GMPPA):c.545G>A (p.Gly182Asp)
|
rs397518462
|
|
NM_013335.4(GMPPA):c.642G>A (p.Trp214Ter)
|
rs2125639654
|
|
NM_013335.4(GMPPA):c.790C>T (p.Arg264Ter)
|
|
|
NM_013335.4(GMPPA):c.853+1G>A
|
rs1553624347
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)
|
rs2121082201
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.211del (p.His71fs)
|
rs765577880
|
|
NM_015665.6(AAAS):c.250del (p.Trp84fs)
|
rs2136820957
|
|
NM_015665.6(AAAS):c.399+1G>A
|
rs2136811976
|
|
NM_015665.6(AAAS):c.400-2A>G
|
rs1565781382
|
|
NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)
|
rs758057774
|
|
NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)
|
rs1944347921
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_015665.6(AAAS):c.980dup (p.Ser328fs)
|
rs387906326
|
|
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)
|
rs769235876
|
|
NM_017841.4(SDHAF2):c.124del (p.Asp42fs)
|
rs2134892263
|
|
NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter)
|
rs2134892271
|
|
NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)
|
rs1554984631
|
|
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)
|
rs949388785
|
|
NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter)
|
rs778397152
|
|
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)
|
rs1336819076
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)
|
rs1254052531
|
|
NM_017841.4(SDHAF2):c.267del (p.Phe89fs)
|
rs766035180
|
|
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)
|
|
|
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)
|
rs1861838658
|
|
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)
|
rs750979204
|
|
NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter)
|
|
|
NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter)
|
|
|
NM_017849.3(TMEM127):c.-131-?_*3600del
|
|
|
NM_017849.4(TMEM127):c.109_112dup (p.Ala38fs)
|
|
|
NM_017849.4(TMEM127):c.115_116del (p.Leu39fs)
|
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.124_125del (p.Thr42fs)
|
rs1553437737
|
|
NM_017849.4(TMEM127):c.124dup (p.Thr42fs)
|
|
|
NM_017849.4(TMEM127):c.12del (p.Gly5fs)
|
rs2104308592
|
|
NM_017849.4(TMEM127):c.13G>T (p.Gly5Ter)
|
|
|
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter)
|
rs121908818
|
|
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
|
|
|
NM_017849.4(TMEM127):c.193G>T (p.Glu65Ter)
|
|
|
NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)
|
rs1553437759
|
|
NM_017849.4(TMEM127):c.202dup (p.Val68fs)
|
rs1684388744
|
|
NM_017849.4(TMEM127):c.218del (p.Gly73fs)
|
rs2104307293
|
|
NM_017849.4(TMEM127):c.224del (p.Val75fs)
|
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.24_48del (p.Leu9fs)
|
rs2104308313
|
|
NM_017849.4(TMEM127):c.24del (p.Leu9fs)
|
rs2104308495
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
|
|
|
NM_017849.4(TMEM127):c.283del (p.Val95fs)
|
rs1553437028
|
|
NM_017849.4(TMEM127):c.291del (p.Ala98fs)
|
rs2104287651
|
|
NM_017849.4(TMEM127):c.2T>A (p.Met1Lys)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
|
rs1684398953
|
|
NM_017849.4(TMEM127):c.325_326del (p.Ser109fs)
|
|
|
NM_017849.4(TMEM127):c.327del (p.Ala110fs)
|
|
|
NM_017849.4(TMEM127):c.332del (p.Phe111fs)
|
|
|
NM_017849.4(TMEM127):c.337del (p.Leu113fs)
|
rs1558752468
|
|
NM_017849.4(TMEM127):c.342_343insA (p.Val115fs)
|
|
|
NM_017849.4(TMEM127):c.347_348del (p.Phe116fs)
|
|
|
NM_017849.4(TMEM127):c.36_45del (p.Arg13fs)
|
|
|
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
|
rs1684169953
|
|
NM_017849.4(TMEM127):c.379del (p.Arg127fs)
|
|
|
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
|
rs1684169157
|
|
NM_017849.4(TMEM127):c.397del (p.His133fs)
|
rs1558752379
|
|
NM_017849.4(TMEM127):c.409+1G>C
|
rs121908825
|
|
NM_017849.4(TMEM127):c.410-1G>C
|
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017849.4(TMEM127):c.438_442del (p.Phe146fs)
|
|
|
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)
|
rs121908830
|
|
NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter)
|
rs1573969322
|
|
NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)
|
|
|
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
|
rs1684148846
|
|
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)
|
rs1684147771
|
|
NM_017849.4(TMEM127):c.73A>T (p.Lys25Ter)
|
rs1573977924
|
|
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)
|
rs121908815
|
|
NM_017849.4(TMEM127):c.7del (p.Ala3fs)
|
rs1558756727
|
|
NM_017849.4(TMEM127):c.82G>T (p.Glu28Ter)
|
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)
|
rs75076352
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)
|
rs75996173
|
|
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)
|
rs75996173
|
|
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)
|
rs77709286
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
|
|
|
NM_130799.2(MEN1):c.914del
|
rs1941733228
|
|
NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)
|
|
|
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)
|
rs786205345
|
|
NM_182977.3(NNT):c.1259dup (p.His421fs)
|
rs864309519
|
|
NM_182977.3(NNT):c.1598C>T (p.Ala533Val)
|
rs387907232
|
|
NM_182977.3(NNT):c.211C>T (p.Arg71Ter)
|
rs886039790
|
|
NM_182977.3(NNT):c.2274del (p.Ile758fs)
|
rs2111935997
|
|
NM_182977.3(NNT):c.2635-1G>T
|
|
|
NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)
|
rs387907233
|
|
NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)
|
rs387907234
|
|
NM_182977.3(NNT):c.600-1del
|
rs786205344
|
|
NM_182977.3(NNT):c.644T>C (p.Phe215Ser)
|
rs886039786
|
|
NR0B1, 1-BP INS, 430G
|
|
|
PRKAR1A, 16-BP DEL
|
|
|
Single allele
|
|
|