ClinVar Miner

List of variants reported as pathogenic for adrenal gland disorder

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1959
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HGVS dbSNP gnomAD frequency
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

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