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_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
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_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
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_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
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_000529.2(MC2R):c.360C>G (p.Ser120Arg)
|
rs104894656
|
0.00003
|
NM_001379228.1(MRAP):c.106+1G>C
|
rs566223651
|
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_000198.4(HSD3B2):c.867del (p.Met290fs)
|
rs767167623
|
0.00002
|
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)
|
rs104894657
|
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_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)
|
rs28934880
|
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.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
NM_000349.3(STAR):c.577C>T (p.Arg193Ter)
|
rs387907235
|
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_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter)
|
rs151344503
|
0.00001
|
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
|
rs151344504
|
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_001379228.1(MRAP):c.106+1del
|
rs1476574441
|
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.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
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
|
CYP11B1, CYP11B1/CYP11B2 CHIMERA
|
|
|
CYP21A2, 30-KB DEL
|
|
|
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)
|
rs2148399029
|
|
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.664C>A (p.Pro222Thr)
|
rs80358220
|
|
NM_000198.4(HSD3B2):c.[742_743delinsAA;745C>T]
|
|
|
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.545G>A (p.Arg182His)
|
rs104894086
|
|
NM_000349.3(STAR):c.545G>T (p.Arg182Leu)
|
rs104894086
|
|
NM_000349.3(STAR):c.650G>C (p.Arg217Thr)
|
rs137852689
|
|
NM_000349.3(STAR):c.749G>A (p.Trp250Ter)
|
rs104894087
|
|
NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter)
|
rs104894908
|
|
NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)
|
rs104894886
|
|
NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp)
|
rs104894900
|
|
NM_000475.5(NR0B1):c.1142T>A (p.Leu381His)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)
|
rs104894896
|
|
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.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
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.1376_1377delinsG (p.Asp459fs)
|
|
|
NM_000475.5(NR0B1):c.155_156del (p.Glu52fs)
|
rs2147007424
|
|
NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)
|
rs104894892
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)
|
rs104894891
|
|
NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)
|
rs104894898
|
|
NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)
|
rs104894889
|
|
NM_000475.5(NR0B1):c.765del (p.Cys255fs)
|
|
|
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.813C>G (p.Tyr271Ter)
|
rs104894895
|
|
NM_000475.5(NR0B1):c.839del (p.Leu280fs)
|
|
|
NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)
|
rs104894890
|
|
NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)
|
rs28935482
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
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.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)
|
rs104894070
|
|
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)
|
rs104894066
|
|
NM_000497.4(CYP11B1):c.397A>C (p.Asn133His)
|
rs104894067
|
|
NM_000497.4(CYP11B1):c.595+16G>T
|
rs1365173817
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
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_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
|
|
|
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
|
rs72552757
|
|
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.511dup (p.Ser171fs)
|
|
|
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.939+1G>C
|
rs1474566961
|
|
NM_000500.9(CYP21A2):c.[-4C>T;1360C>T317C>T]
|
|
|
NM_000500.9(CYP21A2):c.[1019G>A;1360C>T]
|
|
|
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)
|
rs267607231
|
|
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)
|
rs104894659
|
|
NM_000529.2(MC2R):c.652_653insA (p.Ala218fs)
|
|
|
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)
|
rs104894662
|
|
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)
|
rs28940892
|
|
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_001395413.1(POR):c.1813G>T (p.Val605Phe)
|
rs72552772
|
|
NM_001395413.1(POR):c.532T>G (p.Tyr178Asp)
|
rs72552771
|
|
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.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_015665.6(AAAS):c.400-2A>G
|
rs1565781382
|
|
NM_015665.6(AAAS):c.980dup (p.Ser328fs)
|
rs387906326
|
|
NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)
|
rs786205345
|
|
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.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
|
|
|