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_000781.3(CYP11A1):c.235G>A (p.Val79Ile)
|
rs143655263
|
0.00303
|
NM_001105247.2(ARMC5):c.1864+198T>A
|
rs150981686
|
0.00129
|
NM_182977.3(NNT):c.1817T>C (p.Val606Ala)
|
rs139379760
|
0.00044
|
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter)
|
rs188985665
|
0.00042
|
NM_182977.3(NNT):c.1424C>T (p.Thr475Met)
|
rs141791856
|
0.00042
|
NM_000497.4(CYP11B1):c.1066C>T (p.Gln356Ter)
|
rs146124466
|
0.00032
|
NM_001370259.2(MEN1):c.-6G>A
|
rs768088337
|
0.00023
|
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn)
|
rs28929488
|
0.00016
|
NM_017841.4(SDHAF2):c.331G>A (p.Glu111Lys)
|
rs145616631
|
0.00016
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_001370259.2(MEN1):c.-23-135G>A
|
rs587777949
|
0.00012
|
NM_002382.5(MAX):c.341A>C (p.Asn114Thr)
|
rs772912674
|
0.00012
|
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)
|
rs373951977
|
0.00012
|
NM_000383.4(AIRE):c.1235C>T (p.Ser412Leu)
|
rs368331265
|
0.00011
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)
|
rs763476625
|
0.00010
|
NM_004285.4(H6PD):c.1109G>A (p.Arg370Gln)
|
rs182877860
|
0.00009
|
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala)
|
rs140920079
|
0.00009
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)
|
rs1249001227
|
0.00008
|
NM_000383.4(AIRE):c.652+15G>A
|
rs760027964
|
0.00007
|
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)
|
rs34599281
|
0.00007
|
NM_004366.6(CLCN2):c.1934G>A (p.Arg645Gln)
|
rs375401465
|
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_017841.4(SDHAF2):c.490A>G (p.Lys164Glu)
|
rs150187184
|
0.00006
|
NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)
|
rs760633411
|
0.00006
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
0.00005
|
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)
|
rs182489063
|
0.00005
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)
|
rs149383809
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)
|
rs374659656
|
0.00004
|
NM_002382.5(MAX):c.56A>T (p.Gln19Leu)
|
rs200547781
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003000.3(SDHB):c.695C>T (p.Ala232Val)
|
rs746224555
|
0.00004
|
NM_016953.4(PDE11A):c.2618T>C (p.Ile873Thr)
|
rs371810618
|
0.00004
|
NM_017841.4(SDHAF2):c.139A>G (p.Met47Val)
|
rs111402137
|
0.00004
|
NM_017841.4(SDHAF2):c.320G>A (p.Arg107His)
|
rs535627239
|
0.00004
|
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly)
|
rs200911550
|
0.00004
|
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)
|
rs577020327
|
0.00004
|
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)
|
rs121908820
|
0.00004
|
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)
|
rs104894154
|
0.00003
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000497.4(CYP11B1):c.421C>T (p.Arg141Ter)
|
rs775479837
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)
|
rs587780844
|
0.00003
|
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)
|
rs773089218
|
0.00003
|
NM_017841.4(SDHAF2):c.391A>T (p.Ile131Leu)
|
rs773580529
|
0.00003
|
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)
|
rs746883021
|
0.00003
|
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)
|
rs886039439
|
0.00003
|
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_000497.4(CYP11B1):c.1343G>A (p.Arg448His)
|
rs28934586
|
0.00002
|
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys)
|
rs764251434
|
0.00002
|
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln)
|
rs149881706
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)
|
rs373663596
|
0.00002
|
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)
|
rs759337318
|
0.00002
|
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)
|
rs386833403
|
0.00002
|
NM_001370259.2(MEN1):c.989G>A (p.Arg330His)
|
rs373135175
|
0.00002
|
NM_002382.5(MAX):c.329A>C (p.Gln110Pro)
|
rs775808138
|
0.00002
|
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)
|
rs750459929
|
0.00002
|
NM_017841.4(SDHAF2):c.221G>A (p.Ser74Asn)
|
rs1060503389
|
0.00002
|
NM_017841.4(SDHAF2):c.313T>A (p.Tyr105Asn)
|
rs1485358364
|
0.00002
|
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)
|
rs752938517
|
0.00002
|
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)
|
rs772153618
|
0.00002
|
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)
|
rs1452142786
|
0.00002
|
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_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_000176.3(NR3C1):c.2309A>G (p.Lys770Arg)
|
rs751136795
|
0.00001
|
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter)
|
rs760880418
|
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.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp)
|
rs140336749
|
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_000546.6(TP53):c.1001G>A (p.Gly334Glu)
|
rs1286563734
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.1048C>G (p.Leu350Val)
|
rs768046010
|
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.38C>T (p.Pro13Leu)
|
rs878854070
|
0.00001
|
NM_000546.6(TP53):c.393C>A (p.Asn131Lys)
|
rs769270327
|
0.00001
|
NM_000546.6(TP53):c.455C>T (p.Pro152Leu)
|
rs587782705
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
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.542G>A (p.Arg181His)
|
rs397514495
|
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_000546.6(TP53):c.848G>A (p.Arg283His)
|
rs371409680
|
0.00001
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His)
|
rs752232472
|
0.00001
|
NM_001128840.3(CACNA1D):c.4924-6A>G
|
rs1475661078
|
0.00001
|
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg)
|
rs1176833638
|
0.00001
|
NM_001370259.2(MEN1):c.1025C>T (p.Ala342Val)
|
rs377715802
|
0.00001
|
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)
|
rs1225964479
|
0.00001
|
NM_001370259.2(MEN1):c.1159G>A (p.Glu387Lys)
|
rs773978650
|
0.00001
|
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)
|
rs1085307502
|
0.00001
|
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)
|
rs1411766225
|
0.00001
|
NM_001370259.2(MEN1):c.210C>A (p.Asp70Glu)
|
rs150308912
|
0.00001
|
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)
|
rs1389398299
|
0.00001
|
NM_001370259.2(MEN1):c.344G>A (p.Arg115His)
|
rs1114167507
|
0.00001
|
NM_001370259.2(MEN1):c.568G>A (p.Gly190Arg)
|
rs1555165742
|
0.00001
|
NM_001370259.2(MEN1):c.655-5C>G
|
rs752563214
|
0.00001
|
NM_001370259.2(MEN1):c.710C>T (p.Ala237Val)
|
rs760289964
|
0.00001
|
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)
|
rs368619946
|
0.00001
|
NM_001756.4(SERPINA6):c.539G>A (p.Gly180Glu)
|
rs769978145
|
0.00001
|
NM_002382.5(MAX):c.299G>A (p.Arg100His)
|
rs776978293
|
0.00001
|
NM_002382.5(MAX):c.410G>A (p.Gly137Asp)
|
rs771696396
|
0.00001
|
NM_002382.5(MAX):c.425C>T (p.Ser142Leu)
|
rs760147253
|
0.00001
|
NM_002382.5(MAX):c.466C>T (p.Arg156Trp)
|
rs768360710
|
0.00001
|
NM_017841.4(SDHAF2):c.11C>G (p.Ser4Cys)
|
rs778449586
|
0.00001
|
NM_017841.4(SDHAF2):c.260+3A>G
|
rs1445986287
|
0.00001
|
NM_017841.4(SDHAF2):c.341A>G (p.Asn114Ser)
|
rs747022200
|
0.00001
|
NM_017841.4(SDHAF2):c.371-2A>G
|
rs375280597
|
0.00001
|
NM_017841.4(SDHAF2):c.410T>A (p.Met137Lys)
|
rs367574730
|
0.00001
|
NM_017841.4(SDHAF2):c.454A>G (p.Arg152Gly)
|
rs1056273933
|
0.00001
|
NM_017841.4(SDHAF2):c.96A>T (p.Arg32Ser)
|
rs952830677
|
0.00001
|
NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)
|
rs1451389209
|
0.00001
|
NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)
|
rs1024081498
|
0.00001
|
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)
|
rs995979769
|
0.00001
|
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)
|
rs751779219
|
0.00001
|
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)
|
rs764136807
|
0.00001
|
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)
|
rs769359648
|
0.00001
|
NM_017849.4(TMEM127):c.383G>A (p.Arg128His)
|
rs779277417
|
0.00001
|
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)
|
rs780133289
|
0.00001
|
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)
|
rs1364190464
|
0.00001
|
NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)
|
rs1348645128
|
0.00001
|
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)
|
rs1485424649
|
0.00001
|
NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)
|
rs749807415
|
0.00001
|
NM_182977.3(NNT):c.1880C>T (p.Ser627Leu)
|
rs41271081
|
0.00001
|
NM_182977.3(NNT):c.2778C>A (p.Ser926Arg)
|
rs1451092520
|
0.00001
|
GRCh37/hg19 Xq28(chrX:152980470-153032459)
|
|
|
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.1382del (p.Leu461fs)
|
|
|
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile)
|
rs2091762306
|
|
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
|
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
|
|
|
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr)
|
rs2091775448
|
|
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
|
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe)
|
rs879952582
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
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.1157_1161del (p.Val386fs)
|
|
|
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)
|
rs1060499582
|
|
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
|
|
|
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)
|
rs367833709
|
|
NM_000102.4(CYP17A1):c.1244-1G>C
|
|
|
NM_000102.4(CYP17A1):c.1263G>A (p.Ala421=)
|
|
|
NM_000102.4(CYP17A1):c.1301C>T (p.Pro434Leu)
|
|
|
NM_000102.4(CYP17A1):c.1318C>T (p.Arg440Cys)
|
|
|
NM_000102.4(CYP17A1):c.133_138delinsT (p.Arg45fs)
|
|
|
NM_000102.4(CYP17A1):c.1345C>T (p.Arg449Cys)
|
rs371825363
|
|
NM_000102.4(CYP17A1):c.1346del (p.Arg449fs)
|
|
|
NM_000102.4(CYP17A1):c.1371del (p.Trp458fs)
|
|
|
NM_000102.4(CYP17A1):c.1381C>T (p.Gln461Ter)
|
|
|
NM_000102.4(CYP17A1):c.1414C>T (p.Gln472Ter)
|
|
|
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.1486C>T (p.Arg496Cys)
|
rs1250463562
|
|
NM_000102.4(CYP17A1):c.1487G>A (p.Arg496His)
|
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000102.4(CYP17A1):c.177del (p.Lys59fs)
|
|
|
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.350_351del (p.Ser117fs)
|
|
|
NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter)
|
rs942376359
|
|
NM_000102.4(CYP17A1):c.437-1G>A
|
|
|
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
|
|
|
NM_000102.4(CYP17A1):c.580G>T (p.Glu194Ter)
|
rs1173000590
|
|
NM_000102.4(CYP17A1):c.632_633del (p.Lys211fs)
|
|
|
NM_000102.4(CYP17A1):c.666+2T>C
|
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
NM_000102.4(CYP17A1):c.667-16_680del
|
|
|
NM_000102.4(CYP17A1):c.671del (p.Phe224fs)
|
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)
|
rs104894136
|
|
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
|
|
|
NM_000102.4(CYP17A1):c.753+1G>A
|
rs1844126291
|
|
NM_000102.4(CYP17A1):c.806_810del (p.Ala269fs)
|
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000102.4(CYP17A1):c.887T>C (p.Ile296Thr)
|
|
|
NM_000102.4(CYP17A1):c.946dup (p.Ala316fs)
|
|
|
NM_000102.4(CYP17A1):c.973AAG[2] (p.Lys327del)
|
|
|
NM_000102.4(CYP17A1):c.987C>G (p.Tyr329Ter)
|
|
|
NM_000102.4(CYP17A1):c.988GAG[1] (p.Glu331del)
|
|
|
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
|
|
|
NM_000176.3(NR3C1):c.2114A>G (p.Glu705Gly)
|
|
|
NM_000196.4(HSD11B2):c.1010G>T (p.Arg337Leu)
|
rs28934593
|
|
NM_000198.4(HSD3B2):c.1055_1056delinsAA (p.Thr352Lys)
|
rs1651920667
|
|
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
|
|
|
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln)
|
rs104894062
|
|
NM_000497.4(CYP11B1):c.1122-2A>G
|
|
|
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val)
|
rs1816901292
|
|
NM_000497.4(CYP11B1):c.1150_1153del (p.Arg384fs)
|
|
|
NM_000497.4(CYP11B1):c.1200+1G>T
|
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1201-9C>A
|
|
|
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.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
|
|
|
NM_000497.4(CYP11B1):c.1399-1G>C
|
|
|
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.360del (p.Arg120fs)
|
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)
|
rs142484434
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
|
|
|
NM_000497.4(CYP11B1):c.740G>A (p.Trp247Ter)
|
rs866430018
|
|
NM_000497.4(CYP11B1):c.793C>T (p.Gln265Ter)
|
rs2130274854
|
|
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
|
|
|
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)
|
rs2130273520
|
|
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)
|
rs769310764
|
|
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met)
|
rs104894061
|
|
NM_000497.4(CYP11B1):c.954+1del
|
|
|
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=)
|
rs753774484
|
|
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val)
|
rs1326688256
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)
|
|
|
NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)
|
|
|
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.1029G>C (p.Glu343Asp)
|
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1081G>C (p.Gly361Arg)
|
rs1555524361
|
|
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser)
|
rs587781858
|
|
NM_000546.6(TP53):c.1145A>C (p.Lys382Thr)
|
rs2072835191
|
|
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.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.272G>A (p.Trp91Ter)
|
rs2073465664
|
|
NM_000546.6(TP53):c.322G>A (p.Gly108Ser)
|
rs587782461
|
|
NM_000546.6(TP53):c.322G>C (p.Gly108Arg)
|
rs587782461
|
|
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.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.388C>G (p.Leu130Val)
|
rs863224683
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
|
|
|
NM_000546.6(TP53):c.413C>T (p.Ala138Val)
|
rs750600586
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.440T>A (p.Val147Asp)
|
rs1453167097
|
|
NM_000546.6(TP53):c.445T>C (p.Ser149Pro)
|
|
|
NM_000546.6(TP53):c.448_460del (p.Thr150fs)
|
rs1064792930
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
NM_000546.6(TP53):c.47A>G (p.Gln16Arg)
|
rs2073520057
|
|
NM_000546.6(TP53):c.481G>A (p.Ala161Thr)
|
rs193920817
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.48G>C (p.Gln16His)
|
rs1597376489
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.532del (p.His178fs)
|
rs786202525
|
|
NM_000546.6(TP53):c.533A>C (p.His178Pro)
|
rs1555526004
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.559+5G>C
|
rs1555525956
|
|
NM_000546.6(TP53):c.574C>G (p.Gln192Glu)
|
|
|
NM_000546.6(TP53):c.575A>G (p.Gln192Arg)
|
rs730882002
|
|
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.617T>G (p.Leu206Trp)
|
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.644G>A (p.Ser215Asn)
|
rs587782177
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.671A>G (p.Glu224Gly)
|
rs1131691028
|
|
NM_000546.6(TP53):c.672+1G>A
|
rs863224499
|
|
NM_000546.6(TP53):c.711G>T (p.Met237Ile)
|
rs587782664
|
|
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)
|
rs876660807
|
|
NM_000546.6(TP53):c.717C>G (p.Asn239Lys)
|
rs1057522275
|
|
NM_000546.6(TP53):c.717del (p.Asn239fs)
|
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.728T>C (p.Met243Thr)
|
rs730882006
|
|
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.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.748C>G (p.Pro250Ala)
|
|
|
NM_000546.6(TP53):c.783-10T>G
|
|
|
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
|
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.835G>A (p.Gly279Arg)
|
rs1555525248
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>T (p.Arg282Leu)
|
rs730882008
|
|
NM_000546.6(TP53):c.851C>G (p.Thr284Arg)
|
|
|
NM_000546.6(TP53):c.871A>G (p.Lys291Glu)
|
rs1555525126
|
|
NM_000546.6(TP53):c.876A>T (p.Lys292Asn)
|
|
|
NM_000546.6(TP53):c.893A>C (p.Glu298Ala)
|
|
|
NM_000546.6(TP53):c.934A>G (p.Thr312Ala)
|
|
|
NM_000546.6(TP53):c.950A>T (p.Gln317Leu)
|
rs1159579789
|
|
NM_000546.6(TP53):c.965C>G (p.Pro322Arg)
|
|
|
NM_000546.6(TP53):c.967C>G (p.Leu323Val)
|
|
|
NM_000546.6(TP53):c.97-11C>G
|
rs769697802
|
|
NM_000546.6(TP53):c.974G>A (p.Gly325Glu)
|
rs121912659
|
|
NM_000546.6(TP53):c.978A>T (p.Glu326Asp)
|
rs1000256867
|
|
NM_000546.6(TP53):c.97_99del (p.Ser33del)
|
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
|
|
|
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln)
|
rs2094189629
|
|
NM_001370259.2(MEN1):c.1003C>T (p.Arg335Trp)
|
rs371364206
|
|
NM_001370259.2(MEN1):c.1049+1G>A
|
rs1114167489
|
|
NM_001370259.2(MEN1):c.1050-3C>G
|
|
|
NM_001370259.2(MEN1):c.1055A>G (p.Asn352Ser)
|
|
|
NM_001370259.2(MEN1):c.1117C>A (p.Pro373Thr)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1121A>C (p.Asn374Thr)
|
|
|
NM_001370259.2(MEN1):c.1126C>A (p.Leu376Met)
|
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1202G>T (p.Gly401Val)
|
rs878855186
|
|
NM_001370259.2(MEN1):c.1247_1254del (p.Phe416fs)
|
rs1114167542
|
|
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)
|
rs104894264
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)
|
rs778670301
|
|
NM_001370259.2(MEN1):c.1366C>A (p.Arg456Ser)
|
|
|
NM_001370259.2(MEN1):c.1379G>C (p.Arg460Pro)
|
rs200035619
|
|
NM_001370259.2(MEN1):c.1387G>A (p.Glu463Lys)
|
rs748102589
|
|
NM_001370259.2(MEN1):c.1397_1410del (p.Glu466fs)
|
|
|
NM_001370259.2(MEN1):c.1399G>T (p.Ala467Ser)
|
|
|
NM_001370259.2(MEN1):c.1427G>A (p.Arg476Gln)
|
rs753185026
|
|
NM_001370259.2(MEN1):c.1441C>T (p.Arg481Trp)
|
|
|
NM_001370259.2(MEN1):c.1502A>T (p.Asp501Val)
|
|
|
NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg)
|
rs753022747
|
|
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)
|
rs562257963
|
|
NM_001370259.2(MEN1):c.1682T>C (p.Met561Thr)
|
rs1941501393
|
|
NM_001370259.2(MEN1):c.1699G>C (p.Ala567Pro)
|
rs1555163185
|
|
NM_001370259.2(MEN1):c.1735C>T (p.Leu579Phe)
|
rs1328296968
|
|
NM_001370259.2(MEN1):c.196A>C (p.Ser66Arg)
|
rs1942005110
|
|
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs)
|
rs1555166609
|
|
NM_001370259.2(MEN1):c.205C>T (p.Pro69Ser)
|
rs1060499995
|
|
NM_001370259.2(MEN1):c.208G>A (p.Asp70Asn)
|
rs1283021293
|
|
NM_001370259.2(MEN1):c.244G>T (p.Asp82Tyr)
|
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.253A>G (p.Ile85Val)
|
|
|
NM_001370259.2(MEN1):c.259G>A (p.Ala87Thr)
|
|
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NM_001370259.2(MEN1):c.281C>T (p.Thr94Ile)
|
rs1565651820
|
|
NM_001370259.2(MEN1):c.313C>G (p.Leu105Val)
|
rs1941990096
|
|
NM_001370259.2(MEN1):c.319C>G (p.Pro107Ala)
|
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del)
|
rs794728657
|
|
NM_001370259.2(MEN1):c.418A>T (p.Ile140Phe)
|
rs376510601
|
|
NM_001370259.2(MEN1):c.432C>G (p.Phe144Leu)
|
|
|
NM_001370259.2(MEN1):c.443C>T (p.Thr148Ile)
|
|
|
NM_001370259.2(MEN1):c.44C>G (p.Ser15Cys)
|
rs1056705868
|
|
NM_001370259.2(MEN1):c.577A>G (p.Thr193Ala)
|
|
|
NM_001370259.2(MEN1):c.638C>G (p.Ala213Gly)
|
|
|
NM_001370259.2(MEN1):c.653G>A (p.Arg218Gln)
|
rs1423517569
|
|
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)
|
rs886039415
|
|
NM_001370259.2(MEN1):c.682A>G (p.Met228Val)
|
rs1060499982
|
|
NM_001370259.2(MEN1):c.691G>C (p.Asp231His)
|
rs1941827572
|
|
NM_001370259.2(MEN1):c.751A>G (p.Thr251Ala)
|
|
|
NM_001370259.2(MEN1):c.754G>C (p.Asp252His)
|
rs770368608
|
|
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.809T>C (p.Leu270Pro)
|
rs1592647333
|
|
NM_001370259.2(MEN1):c.92A>T (p.Glu31Val)
|
rs1060499977
|
|
NM_001370259.2(MEN1):c.958C>T (p.Pro320Ser)
|
rs1941726727
|
|
NM_001370259.2(MEN1):c.964A>T (p.Met322Leu)
|
rs1555165089
|
|
NM_001370259.2(MEN1):c.970del (p.Leu324fs)
|
rs1114167508
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_002382.5(MAX):c.196A>G (p.Lys66Glu)
|
|
|
NM_002382.5(MAX):c.266A>C (p.Lys89Thr)
|
|
|
NM_002382.5(MAX):c.357C>A (p.Asp119Glu)
|
|
|
NM_002382.5(MAX):c.406G>C (p.Gly136Arg)
|
rs140490467
|
|
NM_002382.5(MAX):c.413C>T (p.Ser138Leu)
|
rs1176118785
|
|
NM_002382.5(MAX):c.64G>T (p.Ala22Ser)
|
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)
|
rs200131173
|
|
NM_003000.3(SDHB):c.73-29del
|
rs745905902
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile)
|
rs748683825
|
|
NM_016953.4(PDE11A):c.493C>A (p.Pro165Thr)
|
rs779068288
|
|
NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)
|
|
|
NM_017841.4(SDHAF2):c.196A>G (p.Lys66Glu)
|
rs371977724
|
|
NM_017841.4(SDHAF2):c.199A>G (p.Arg67Gly)
|
rs1862011610
|
|
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.235A>G (p.Met79Val)
|
rs781702725
|
|
NM_017841.4(SDHAF2):c.25A>G (p.Thr9Ala)
|
rs1554983610
|
|
NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)
|
|
|
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)
|
rs753554501
|
|
NM_017841.4(SDHAF2):c.330C>A (p.Asn110Lys)
|
rs779335034
|
|
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs)
|
rs1456129845
|
|
NM_017841.4(SDHAF2):c.36G>T (p.Leu12=)
|
|
|
NM_017841.4(SDHAF2):c.371-4G>C
|
|
|
NM_017841.4(SDHAF2):c.39G>C (p.Met13Ile)
|
|
|
NM_017841.4(SDHAF2):c.5C>A (p.Ala2Glu)
|
|
|
NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)
|
|
|
NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)
|
|
|
NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)
|
rs1456398772
|
|
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)
|
rs121908816
|
|
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
|
|
|
NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)
|
rs786202314
|
|
NM_017849.4(TMEM127):c.248del (p.Phe83fs)
|
rs587781773
|
|
NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)
|
rs1684396239
|
|
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)
|
rs121908822
|
|
NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)
|
|
|
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
|
|
|
NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)
|
|
|
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
|
|
|
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
|
|
|
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)
|
rs1684152230
|
|
NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)
|
rs2104308338
|
|
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)
|
rs1553436876
|
|
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)
|
rs761885719
|
|
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)
|
rs373781978
|
|
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)
|
rs200351681
|
|
NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)
|
|
|
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
|
|
|
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)
|
rs1684140913
|
|
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
|