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_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
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_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)
|
rs80358231
|
0.00009
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
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_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_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_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
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_001379228.1(MRAP):c.106+1G>C
|
rs566223651
|
0.00003
|
NM_001395413.1(POR):c.1651C>T (p.Arg551Ter)
|
rs782336856
|
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_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_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)
|
rs766474996
|
0.00002
|
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
|
rs767167623
|
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_000529.2(MC2R):c.382C>T (p.Arg128Cys)
|
rs104894657
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
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_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
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_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_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_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_001379228.1(MRAP):c.106+1del
|
rs1476574441
|
0.00001
|
NM_004366.6(CLCN2):c.515G>A (p.Arg172Gln)
|
rs1293789661
|
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_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
|
|
|
NC_000012.12:g.53306793_53321761del
|
|
|
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.(?_28807461)_(33229429_?)dup
|
|
|
NC_000023.10:g.(?_30322696)_(30327480_?)del
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)
|
rs2148399029
|
|
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_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_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_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_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.601C>A (p.Arg201Ser)
|
rs11554273
|
|
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)
|
rs1057518907
|
|
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_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_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_001128840.3(CACNA1D):c.2222-1G>A
|
|
|
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)
|
rs41276445
|
|
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)
|
rs121913035
|
|
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_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_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
rs121913530
|
|
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_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
|
|
|
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
|
|
|
t(6;9)(q23.3;p22.3)
|
|
|
t(8;9)(q13.1;p22.3)
|
|
|