NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000044.6(AR):c.1937C>A (p.Ala646Asp)
|
rs1800053
|
0.00123
|
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)
|
rs121434251
|
0.00016
|
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)
|
rs121434247
|
0.00015
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln)
|
rs119481075
|
0.00009
|
NM_000781.3(CYP11A1):c.835del (p.Ile279fs)
|
rs757299093
|
0.00007
|
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)
|
rs121434252
|
0.00006
|
NM_000197.2(HSD17B3):c.278-1G>C
|
rs149607031
|
0.00004
|
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)
|
rs119481079
|
0.00004
|
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)
|
rs121434248
|
0.00004
|
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp)
|
rs121434244
|
0.00003
|
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)
|
rs121912812
|
0.00003
|
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)
|
rs200834568
|
0.00003
|
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu)
|
rs28939085
|
0.00002
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
NM_000044.6(AR):c.1789G>A (p.Ala597Thr)
|
rs137852569
|
0.00001
|
NM_000044.6(AR):c.2157G>A (p.Trp719Ter)
|
rs137852563
|
0.00001
|
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)
|
rs119481078
|
0.00001
|
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)
|
rs119481077
|
0.00001
|
NM_000197.2(HSD17B3):c.607-1G>A
|
rs730880305
|
0.00001
|
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)
|
rs119481074
|
0.00001
|
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp)
|
rs121434253
|
0.00001
|
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
|
rs122445106
|
0.00001
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
NM_018194.6(HHAT):c.860G>T (p.Gly287Val)
|
rs1173716957
|
0.00001
|
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter)
|
rs121907909
|
0.00001
|
AR, PARTIAL DEL
|
|
|
NC_000002.12:g.(?_31524586)_(31580971_?)del
|
|
|
NC_000017.10:g.(69472000_?)_(?_69712000)del
|
|
|
NC_000017.11:g.(?_71475000)_(71611000_?)del
|
|
|
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
|
|
|
NC_000023.11:g.(?_30304206_30309390_?)dup
|
|
|
NG_009014.2:g.(7732_?)del
|
|
|
NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
|
|
|
NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
|
|
|
NM_000044.6(AR):c.1732G>A (p.Gly578Arg)
|
rs137852596
|
|
NM_000044.6(AR):c.1739G>T (p.Cys580Phe)
|
rs137852586
|
|
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr)
|
rs137852587
|
|
NM_000044.6(AR):c.1769-11T>A
|
rs2147497386
|
|
NM_000044.6(AR):c.1771A>T (p.Lys591Ter)
|
rs137852566
|
|
NM_000044.6(AR):c.178C>T (p.Gln60Ter)
|
rs137852575
|
|
NM_000044.6(AR):c.179dup (p.Gln61fs)
|
rs759327087
|
|
NM_000044.6(AR):c.180_181del (p.Gln61fs)
|
rs869320731
|
|
NM_000044.6(AR):c.1823G>A (p.Arg608Gln)
|
rs137852573
|
|
NM_000044.6(AR):c.2033T>C (p.Leu678Pro)
|
rs137852579
|
|
NM_000044.6(AR):c.2069A>C (p.His690Pro)
|
rs137852599
|
|
NM_000044.6(AR):c.2123T>G (p.Leu708Arg)
|
rs137852585
|
|
NM_000044.6(AR):c.2137C>T (p.Leu713Phe)
|
rs137852595
|
|
NM_000044.6(AR):c.2222C>G (p.Ser741Cys)
|
rs137852601
|
|
NM_000044.6(AR):c.2231G>A (p.Gly744Glu)
|
rs137852600
|
|
NM_000044.6(AR):c.2231G>T (p.Gly744Val)
|
rs137852600
|
|
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs)
|
rs869320732
|
|
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys)
|
rs137852567
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2324G>A (p.Arg775His)
|
rs137852572
|
|
NM_000044.6(AR):c.2343G>T (p.Met781Ile)
|
rs137852589
|
|
NM_000044.6(AR):c.2362A>G (p.Met788Val)
|
rs137852570
|
|
NM_000044.6(AR):c.2391G>A (p.Trp797Ter)
|
rs137852565
|
|
NM_000044.6(AR):c.2423T>C (p.Met808Thr)
|
rs137852592
|
|
NM_000044.6(AR):c.2449+5G>T
|
rs1602278831
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.2571C>G (p.Phe857Leu)
|
rs137852598
|
|
NM_000044.6(AR):c.2596T>C (p.Ser866Pro)
|
rs137852597
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2599G>T (p.Val867Leu)
|
rs137852564
|
|
NM_000044.6(AR):c.2650A>T (p.Lys884Ter)
|
rs137852568
|
|
NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
|
NM_000044.6(AR):c.4G>A (p.Glu2Lys)
|
rs104894742
|
|
NM_000044.6(AR):c.521T>G (p.Leu174Ter)
|
rs137852590
|
|
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)
|
rs119481076
|
|
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)
|
rs119481080
|
|
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln)
|
rs121434245
|
|
NM_000348.4(SRD5A2):c.468_470del (p.Met157del)
|
rs587776566
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000348.4(SRD5A2):c.753del (p.Phe252fs)
|
rs587776567
|
|
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
|
rs122445093
|
|
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg)
|
rs122445094
|
|
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn)
|
rs122445095
|
|
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys)
|
rs122445104
|
|
NM_000489.6(ATRX):c.5273-10T>A
|
rs2148261114
|
|
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
|
rs122445103
|
|
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)
|
rs122445096
|
|
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His)
|
rs122445097
|
|
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys)
|
rs122445098
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)
|
rs122445100
|
|
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu)
|
rs1569539477
|
|
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_001308093.3(GATA4):c.664G>A (p.Gly222Arg)
|
rs398122402
|
|
NM_003309.4(TSPYL1):c.460dup (p.Glu154fs)
|
|
|
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)
|
rs775957625
|
|
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu)
|
rs121918654
|
|
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
|
|
|
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)
|
rs104894120
|
|
NM_004959.5(NR5A1):c.18del (p.Asp6fs)
|
rs606231205
|
|
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile)
|
rs104894125
|
|
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)
|
rs104894126
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)
|
rs104894119
|
|
NM_004959.5(NR5A1):c.390del (p.Pro131fs)
|
rs606231207
|
|
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)
|
rs121918656
|
|
NM_004959.5(NR5A1):c.43G>A (p.Val15Met)
|
rs104894124
|
|
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)
|
rs104894123
|
|
NM_004959.5(NR5A1):c.666del (p.Asn222fs)
|
rs606231206
|
|
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)
|
rs121918655
|
|
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His)
|
rs1131692186
|
|
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)
|
rs143853590
|
|
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.634-8T>A
|
rs1131692053
|
|
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)
|
rs606231252
|
|
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro)
|
rs2092784129
|
|
NM_021044.4(DHH):c.2T>C (p.Met1Thr)
|
rs104894346
|
|
NM_021044.4(DHH):c.304-572_492dup
|
|
|
NM_021044.4(DHH):c.371G>A (p.Arg124Gln)
|
rs1565573892
|
|
NM_021044.4(DHH):c.519G>T (p.Trp173Cys)
|
rs1939296210
|
|
NM_021044.4(DHH):c.554C>A (p.Ser185Ter)
|
rs1939295073
|
|
NM_024426.6(WT1):c.1208G>A (p.Cys403Tyr)
|
rs121907904
|
|
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly)
|
rs121907905
|
|
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter)
|
rs121907906
|
|
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys)
|
rs121907910
|
|
NM_024426.6(WT1):c.1316G>A (p.Arg439His)
|
rs121907901
|
|
NM_024426.6(WT1):c.1338C>G (p.His446Gln)
|
rs121907907
|
|
NM_024426.6(WT1):c.1348C>T (p.His450Tyr)
|
rs28942089
|
|
NM_024426.6(WT1):c.1393T>C (p.Phe465Leu)
|
rs28941779
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1400G>C (p.Arg467Pro)
|
rs121907903
|
|
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)
|
rs28941778
|
|
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly)
|
rs121907902
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024426.6(WT1):c.1447+6T>A
|
rs587776575
|
|