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_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_000519.4(HBD):c.82G>T (p.Ala28Ser)
|
rs35152987
|
0.00158
|
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro)
|
rs200005406
|
0.00039
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu)
|
rs142484434
|
0.00014
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)
|
rs202059967
|
0.00006
|
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met)
|
rs375833424
|
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_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
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_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
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_000349.3(STAR):c.824T>C (p.Leu275Pro)
|
rs762245736
|
0.00003
|
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)
|
rs375892072
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)
|
rs754637718
|
0.00003
|
NM_000102.4(CYP17A1):c.1247G>A (p.Arg416His)
|
rs104894155
|
0.00002
|
NM_000349.3(STAR):c.745-1G>C
|
rs374297649
|
0.00002
|
NM_000349.3(STAR):c.814C>T (p.Arg272Cys)
|
rs751759820
|
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_001395413.1(POR):c.1354del (p.Gln452fs)
|
rs781805159
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)
|
rs752811843
|
0.00001
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
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.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.779T>C (p.Leu260Pro)
|
rs551783234
|
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.1361G>A (p.Arg454His)
|
rs367634557
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)
|
rs193922539
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
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.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
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_000497.4(CYP11B1):c.955-1G>A
|
rs1456715954
|
0.00001
|
NM_000500.9(CYP21A2):c.1063C>T (p.Arg355Cys)
|
rs772900496
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
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.437G>A (p.Arg146His)
|
rs758709668
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_001395413.1(POR):c.179+2T>C
|
rs936203749
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly)
|
rs775623976
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
|
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
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.1117C>T (p.His373Tyr)
|
rs1423560123
|
|
NM_000102.4(CYP17A1):c.1157_1161del (p.Val386fs)
|
|
|
NM_000102.4(CYP17A1):c.1193C>T (p.Ala398Val)
|
|
|
NM_000102.4(CYP17A1):c.1226C>T (p.Pro409Leu)
|
rs367833709
|
|
NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu)
|
rs1554879846
|
|
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.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.1414C>T (p.Gln472Ter)
|
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
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.1A>G (p.Met1Val)
|
rs1590204913
|
|
NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.437-1G>A
|
|
|
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)
|
rs752540777
|
|
NM_000102.4(CYP17A1):c.574dup (p.Asp192fs)
|
|
|
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.671del (p.Phe224fs)
|
|
|
NM_000102.4(CYP17A1):c.675dup (p.Asn226fs)
|
rs1458440922
|
|
NM_000102.4(CYP17A1):c.716G>A (p.Arg239Gln)
|
|
|
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.988GAG[1] (p.Glu331del)
|
|
|
NM_000102.4(CYP17A1):c.995T>C (p.Ile332Thr)
|
|
|
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)
|
rs905880501
|
|
NM_000198.4(HSD3B2):c.347T>G (p.Val116Gly)
|
|
|
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
|
|
|
NM_000198.4(HSD3B2):c.701T>C (p.Leu234Pro)
|
|
|
NM_000198.4(HSD3B2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
|
|
|
NM_000198.4(HSD3B2):c.875G>A (p.Trp292Ter)
|
rs756663759
|
|
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)
|
rs781213951
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.178+1G>C
|
rs1554503011
|
|
NM_000349.3(STAR):c.179-2A>G
|
rs1554502986
|
|
NM_000349.3(STAR):c.203del (p.Tyr68fs)
|
|
|
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
|
|
|
NM_000349.3(STAR):c.229del (p.Gln77fs)
|
|
|
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
|
|
|
NM_000349.3(STAR):c.298_299del (p.Gln101fs)
|
rs765904696
|
|
NM_000349.3(STAR):c.306+1G>A
|
|
|
NM_000349.3(STAR):c.307-1G>A
|
rs2130614519
|
|
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
|
|
|
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
|
|
|
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
|
|
|
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
|
|
|
NM_000349.3(STAR):c.503dup (p.His168fs)
|
|
|
NM_000349.3(STAR):c.505G>A (p.Glu169Lys)
|
rs747169620
|
|
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.611_612del (p.Thr204fs)
|
|
|
NM_000349.3(STAR):c.629_630del (p.Pro210fs)
|
rs771895449
|
|
NM_000349.3(STAR):c.64+2T>C
|
rs1298369560
|
|
NM_000349.3(STAR):c.650+1G>A
|
rs1563267767
|
|
NM_000349.3(STAR):c.651-1G>C
|
rs749626865
|
|
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
|
|
|
NM_000349.3(STAR):c.677del (p.Val226fs)
|
rs1554502732
|
|
NM_000349.3(STAR):c.695del (p.Gly232fs)
|
rs757367795
|
|
NM_000349.3(STAR):c.714del (p.Lys238fs)
|
rs1417088430
|
|
NM_000349.3(STAR):c.716_732del (p.Leu239fs)
|
rs1554502725
|
|
NM_000349.3(STAR):c.745-1_757del
|
rs1554502668
|
|
NM_000349.3(STAR):c.801dup (p.Ala268fs)
|
rs1554502663
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
|
|
|
NM_000349.3(STAR):c.97del (p.Gln33fs)
|
|
|
NM_000475.5(NR0B1):c.1006dup (p.Val336fs)
|
rs1926565039
|
|
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
|
rs386134262
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
NM_000475.5(NR0B1):c.1411T>C (p.Ter471Gln)
|
rs1926485824
|
|
NM_000475.5(NR0B1):c.1A>G (p.Met1Val)
|
|
|
NM_000475.5(NR0B1):c.510_522dup (p.Ser175fs)
|
rs2147007005
|
|
NM_000475.5(NR0B1):c.606C>A (p.Cys202Ter)
|
|
|
NM_000475.5(NR0B1):c.617del (p.His206fs)
|
|
|
NM_000475.5(NR0B1):c.64C>T (p.Gln22Ter)
|
|
|
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro)
|
rs2147006592
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.848A>C (p.Gln283Pro)
|
rs1060499835
|
|
NM_000497.4(CYP11B1):c.1019T>G (p.Leu340Arg)
|
|
|
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.1150C>T (p.Arg384Ter)
|
|
|
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs)
|
rs1379392398
|
|
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)
|
rs758714890
|
|
NM_000497.4(CYP11B1):c.1200+1G>T
|
|
|
NM_000497.4(CYP11B1):c.1200+1del
|
rs2130267209
|
|
NM_000497.4(CYP11B1):c.1201-1G>A
|
rs1437397442
|
|
NM_000497.4(CYP11B1):c.1201-9C>A
|
|
|
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs)
|
rs1554652650
|
|
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del)
|
rs2130266841
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
|
|
|
NM_000497.4(CYP11B1):c.1398+2T>C
|
rs577022490
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.1399-1G>C
|
|
|
NM_000497.4(CYP11B1):c.1466T>C (p.Leu489Ser)
|
|
|
NM_000497.4(CYP11B1):c.147del (p.Trp49fs)
|
rs748867146
|
|
NM_000497.4(CYP11B1):c.168G>A (p.Trp56Ter)
|
rs1383321200
|
|
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.304C>T (p.Gln102Ter)
|
rs1554653551
|
|
NM_000497.4(CYP11B1):c.360del (p.Arg120fs)
|
|
|
NM_000497.4(CYP11B1):c.395+1G>C
|
rs1554653514
|
|
NM_000497.4(CYP11B1):c.396-2A>G
|
|
|
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
|
|
|
NM_000497.4(CYP11B1):c.422G>T (p.Arg141Leu)
|
|
|
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter)
|
rs1479660166
|
|
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter)
|
rs142484434
|
|
NM_000497.4(CYP11B1):c.45G>A (p.Trp15Ter)
|
rs1554653714
|
|
NM_000497.4(CYP11B1):c.55C>T (p.Gln19Ter)
|
rs763195324
|
|
NM_000497.4(CYP11B1):c.595+1G>C
|
|
|
NM_000497.4(CYP11B1):c.596-2A>G
|
|
|
NM_000497.4(CYP11B1):c.642_643del (p.His214fs)
|
rs1369163428
|
|
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
|
|
|
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
|
|
|
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
|
|
|
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
|
|
|
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
|
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
|
|
|
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
|
|
|
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)
|
|
|
NM_000497.4(CYP11B1):c.799+1G>C
|
rs1554652990
|
|
NM_000497.4(CYP11B1):c.799+2T>C
|
rs193922541
|
|
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
|
|
|
NM_000497.4(CYP11B1):c.800G>A (p.Gly267Asp)
|
|
|
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
|
|
|
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
|
|
|
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter)
|
rs5290
|
|
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs)
|
rs775128501
|
|
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter)
|
rs1816949224
|
|
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs)
|
rs2130273520
|
|
NM_000497.4(CYP11B1):c.907del (p.Ala303fs)
|
rs769310764
|
|
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
|
|
|
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
|
|
|
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg)
|
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_000500.7:c.*28699080dupT
|
|
|
NM_000500.9(CYP21A2):c.1042G>A (p.Ala348Thr)
|
rs2151875295
|
|
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
|
|
|
NM_000500.9(CYP21A2):c.1118+1G>A
|
rs778895502
|
|
NM_000500.9(CYP21A2):c.1118G>A (p.Ser373Asn)
|
rs1554305880
|
|
NM_000500.9(CYP21A2):c.1136T>A (p.Ile379Asn)
|
rs1429901248
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1274G>T (p.Gly425Val)
|
rs2151876633
|
|
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000500.9(CYP21A2):c.1450dup (p.Arg484fs)
|
rs779791105
|
|
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs)
|
rs397509367
|
|
NM_000500.9(CYP21A2):c.159_160del (p.Gln54fs)
|
rs886038207
|
|
NM_000500.9(CYP21A2):c.20dup (p.Leu8fs)
|
rs1582298980
|
|
NM_000500.9(CYP21A2):c.254del (p.Lys85fs)
|
rs1582300748
|
|
NM_000500.9(CYP21A2):c.274A>G (p.Arg92Gly)
|
rs1554304513
|
|
NM_000500.9(CYP21A2):c.292+1G>A
|
rs779144910
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.341C>T (p.Ser114Phe)
|
|
|
NM_000500.9(CYP21A2):c.405del (p.Met136fs)
|
rs2151871966
|
|
NM_000500.9(CYP21A2):c.497C>G (p.Ser166Cys)
|
|
|
NM_000500.9(CYP21A2):c.559T>G (p.Leu187Val)
|
rs1582305275
|
|
NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter)
|
rs1776123817
|
|
NM_000500.9(CYP21A2):c.652-1G>A
|
rs1397184823
|
|
NM_000500.9(CYP21A2):c.68G>A (p.Trp23Ter)
|
|
|
NM_000500.9(CYP21A2):c.754G>A (p.Gly252Ser)
|
rs182942340
|
|
NM_000500.9(CYP21A2):c.782T>C (p.Met261Thr)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.782T>G (p.Met261Arg)
|
rs1582307951
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.91C>T (p.Pro31Ser)
|
|
|
NM_000500.9(CYP21A2):c.958GAG[1] (p.Glu321del)
|
rs1582309414
|
|
NM_000500.9:c.(?_-50)_(939+1_940-1)del
|
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)
|
rs761911005
|
|
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)
|
rs121912662
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
|
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
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.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.427G>A (p.Val143Met)
|
rs587782620
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.470T>C (p.Val157Ala)
|
rs1131691023
|
|
NM_000546.6(TP53):c.476C>T (p.Ala159Val)
|
rs1555526131
|
|
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.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
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.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
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.700T>A (p.Tyr234Asn)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>C (p.Tyr234His)
|
rs864622237
|
|
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)
|
rs864622237
|
|
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)
|
rs587780073
|
|
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)
|
rs587780073
|
|
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.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
|
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
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.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr)
|
rs763098116
|
|
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)
|
rs587781525
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_001123385.2(BCOR):c.398_399insAC (p.Ala134fs)
|
rs1555919960
|
|
NM_001123385.2(BCOR):c.4063G>T (p.Glu1355Ter)
|
rs780712297
|
|
NM_001123385.2(BCOR):c.4787_4802del (p.Gly1596fs)
|
rs1555913337
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001395413.1(POR):c.1239+1G>C
|
rs782168868
|
|
NM_001395413.1(POR):c.1239+1G>T
|
|
|
NM_001395413.1(POR):c.1239+2T>G
|
|
|
NM_001395413.1(POR):c.1240-2A>G
|
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001395413.1(POR):c.1389+1G>A
|
|
|
NM_001395413.1(POR):c.1389+1G>C
|
|
|
NM_001395413.1(POR):c.1647_1660+15del
|
|
|
NM_001395413.1(POR):c.1661-2A>G
|
|
|
NM_001395413.1(POR):c.1807-2A>C
|
|
|
NM_001395413.1(POR):c.1874A>C (p.His625Pro)
|
|
|
NM_001395413.1(POR):c.229-1G>A
|
|
|
NM_001395413.1(POR):c.229-2A>G
|
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
NM_001395413.1(POR):c.821+2_821+3del
|
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)
|
rs121913412
|
|
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)
|
rs121913413
|
|
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys)
|
rs121913409
|
|
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe)
|
rs121913409
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)
|
rs1057519939
|
|
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)
|
rs1057519938
|
|
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)
|
rs121913284
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys)
|
rs775623976
|
|
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His)
|
rs1057519961
|
|
NM_013335.4(GMPPA):c.382G>T (p.Glu128Ter)
|
rs2125629897
|
|
NM_015665.5(AAAS):c.936_937delAG
|
rs1592513048
|
|
NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)
|
rs765757844
|
|
NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)
|
rs770214071
|
|
NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)
|
|
|
NM_015665.6(AAAS):c.762del (p.Ser255fs)
|
rs746057093
|
|
NM_015665.6(AAAS):c.781_782del (p.Ala262fs)
|
rs2121089586
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)
|
rs774817639
|
|
NM_017617.5(NOTCH1):c.2825G>A (p.Cys942Tyr)
|
rs1554728658
|
|
NM_017617.5(NOTCH1):c.4045_4052del (p.Ala1349fs)
|
rs1554728034
|
|
NM_152641.4(ARID2):c.2989C>T (p.Gln997Ter)
|
rs1555155110
|
|
NM_182977.3(NNT):c.1575dup (p.Pro526fs)
|
rs1739624229
|
|
NM_182977.3(NNT):c.598G>A (p.Gly200Ser)
|
rs886039788
|
|
NM_182977.3(NNT):c.98dup (p.Leu33fs)
|
rs1579966821
|
|