|
NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln)
|
rs6688832
|
0.30935
|
|
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_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_016953.4(PDE11A):c.171del (p.Thr58fs)
|
rs529789124
|
0.00056
|
|
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_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
|
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_015665.6(AAAS):c.1432C>T (p.Arg478Ter)
|
rs121918548
|
0.00007
|
|
NM_000163.5(GHR):c.726G>C (p.Glu242Asp)
|
rs45588036
|
0.00006
|
|
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_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_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_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)
|
rs121912812
|
0.00003
|
|
NM_001379228.1(MRAP):c.106+1G>C
|
rs566223651
|
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_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
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_000163.5(GHR):c.184G>A (p.Glu62Lys)
|
rs121909361
|
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_000498.3(CYP11B2):c.763G>T (p.Glu255Ter)
|
rs121912977
|
0.00002
|
|
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)
|
rs104894657
|
0.00002
|
|
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp)
|
rs587777662
|
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_004168.4(SDHA):c.1765C>T (p.Arg589Trp)
|
rs387906780
|
0.00002
|
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
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.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_000383.4(AIRE):c.1A>T (p.Met1Leu)
|
rs121434258
|
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_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro)
|
rs72554627
|
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_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_000551.4(VHL):c.499C>T (p.Arg167Trp)
|
rs5030820
|
0.00001
|
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
|
NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter)
|
rs369721476
|
0.00001
|
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
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_003000.3(SDHB):c.268C>T (p.Arg90Ter)
|
rs74315366
|
0.00001
|
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
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_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
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.1753C>T (p.Arg585Trp)
|
rs200397144
|
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.464G>A (p.Arg155His)
|
rs758440592
|
0.00001
|
|
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter)
|
rs121918547
|
0.00001
|
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
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_000001.10:g.17375249_17390927del15679
|
|
|
|
NC_000001.10:g.17376556_17396932del20377
|
|
|
|
NC_000011.10:g.64804807_64804818del
|
rs760199250
|
|
|
NC_000011.9:g.(?_111957571)_(111966518_?)del
|
|
|
|
NC_000023.11:g.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA
|
|
|
|
NG_009814.1:g.(?_4989)_(10173_?)del
|
|
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
|
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.1451C>G (p.Pro484Arg)
|
rs128624214
|
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
|
NM_000033.4(ABCD1):c.1552del (p.Arg518fs)
|
rs387906495
|
|
|
NM_000033.4(ABCD1):c.1634+1G>A
|
rs1569541096
|
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
|
NM_000033.4(ABCD1):c.1820del (p.Gly607fs)
|
rs2148399029
|
|
|
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.1865+1G>A
|
rs1569541198
|
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
|
NM_000033.4(ABCD1):c.443A>G (p.Asn148Ser)
|
rs128624216
|
|
|
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp)
|
rs128624217
|
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
|
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.900G>A (p.Glu300=)
|
rs1569540743
|
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
|
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.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.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_000383.3:c.995+(3_5)delGAGinsTAT
|
|
|
|
NM_000383.4(AIRE):c.1103dup (p.Leu370fs)
|
rs387906293
|
|
|
NM_000383.4(AIRE):c.1513del (p.Ala505fs)
|
rs387906294
|
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
|
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.415C>T (p.Arg139Ter)
|
rs121434256
|
|
|
NM_000383.4(AIRE):c.682G>T (p.Gly228Trp)
|
rs121434257
|
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
|
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_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.814C>T (p.Gln272Ter)
|
rs121912979
|
|
|
NM_000498.3(CYP11B2):c.[541C>T;1157T>C]
|
|
|
|
NM_000498.3(CYP11B2):c.[594A>C;1157T>C]
|
|
|
|
NM_000500.7(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_000516.7(GNAS):c.601C>A (p.Arg201Ser)
|
rs11554273
|
|
|
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_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_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.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_001035511.2(SDHC):c.*4656_*7660delinsGTCA
|
|
|
|
NM_001105247.2(ARMC5):c.1094T>C (p.Leu365Pro)
|
rs587777663
|
|
|
NM_001105247.2(ARMC5):c.1643T>C (p.Leu548Pro)
|
rs587777661
|
|
|
NM_001105247.2(ARMC5):c.170del (p.Gly57fs)
|
rs951869246
|
|
|
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_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met)
|
rs41276445
|
|
|
NM_001370259.2(MEN1):c.1024del (p.Ala342fs)
|
rs1555164986
|
|
|
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.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
|
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)
|
rs104894259
|
|
|
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)
|
rs104894260
|
|
|
NM_001370259.2(MEN1):c.1546del (p.Arg516fs)
|
rs767319284
|
|
|
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs)
|
rs767319284
|
|
|
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)
|
rs104894261
|
|
|
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)
|
rs121913035
|
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
|
NM_001370259.2(MEN1):c.307del (p.Leu103fs)
|
rs794728639
|
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
|
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)
|
rs104894263
|
|
|
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)
|
rs104894262
|
|
|
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)
|
rs104894258
|
|
|
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.654+1G>A
|
rs794728622
|
|
|
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)
|
rs104894256
|
|
|
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)
|
rs104894268
|
|
|
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3])
|
rs1555165485
|
|
|
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)
|
rs104894266
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
|
NM_001370259.2(MEN1):c.824+1G>A
|
rs1060499976
|
|
|
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_002070.4(GNAI2):c.535C>G (p.Arg179Gly)
|
rs137853226
|
|
|
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)
|
rs386352352
|
|
|
NM_002734.5(PRKAR1A):c.-7+1G>A
|
rs587776773
|
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
|
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
|
|
|
|
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)
|
rs74315370
|
|
|
NM_003000.3(SDHB):c.201-4429_287-934del
|
|
|
|
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.395A>C (p.His132Pro)
|
rs74315372
|
|
|
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)
|
rs74315367
|
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
|
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)
|
rs587781266
|
|
|
NM_003001.5(SDHC):c.3G>A (p.Met1Ile)
|
rs587776652
|
|
|
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)
|
rs104894303
|
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
|
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)
|
rs104894310
|
|
|
NM_003002.4(SDHD):c.1A>G (p.Met1Val)
|
rs104894307
|
|
|
NM_003002.4(SDHD):c.278_280del (p.Tyr93del)
|
rs121908983
|
|
|
NM_003002.4(SDHD):c.305A>T (p.His102Leu)
|
rs104894302
|
|
|
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.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.52+2T>G
|
rs587776644
|
|
|
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_003719.5(PDE8B):c.914A>C (p.His305Pro)
|
rs121918360
|
|
|
NM_004285.4(H6PD):c.1860_1861insACAGGTGGTTGACCTGTGGCCGGGTCTGA (p.Glu621delinsThrGlyGlyTer)
|
rs606231222
|
|
|
NM_004285.4(H6PD):c.325del (p.Arg109fs)
|
rs398122818
|
|
|
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_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
|
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.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_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
|
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_181755.2(HSD11B1):c.[331+53_331+54insA;332-29T>G]
|
|
|
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NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)
|
rs786205345
|
|
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NM_182977.3(NNT):c.1598C>T (p.Ala533Val)
|
rs387907232
|
|
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NM_182977.3(NNT):c.211C>T (p.Arg71Ter)
|
rs886039790
|
|
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NM_182977.3(NNT):c.2930T>C (p.Leu977Pro)
|
rs387907233
|
|
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NM_182977.3(NNT):c.3022G>C (p.Ala1008Pro)
|
rs387907234
|
|
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NM_182977.3(NNT):c.600-1del
|
rs786205344
|
|
|
NM_182977.3(NNT):c.644T>C (p.Phe215Ser)
|
rs886039786
|
|
|
NR0B1, 1-BP INS, 430G
|
|
|
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PRKAR1A, 16-BP DEL
|
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