NM_016169.4(SUFU):c.*1675G>A
|
rs41287466
|
0.03346
|
NM_022124.6(CDH23):c.429+18T>C
|
rs141451003
|
0.02288
|
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)
|
rs148033592
|
0.01117
|
NM_016169.4(SUFU):c.*3086A>G
|
rs73342651
|
0.01014
|
NM_016169.4(SUFU):c.*1672A>G
|
rs117196884
|
0.01007
|
NM_016169.4(SUFU):c.*205G>A
|
rs115428806
|
0.00961
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_022124.6(CDH23):c.4846-19G>C
|
rs80261750
|
0.00835
|
NM_001904.4(CTNNB1):c.14-4A>G
|
rs5743391
|
0.00827
|
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)
|
rs36060526
|
0.00793
|
NM_000516.7(GNAS):c.951C>T (p.Arg317=)
|
rs75561530
|
0.00680
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_016169.4(SUFU):c.*3290C>G
|
rs112808377
|
0.00612
|
NM_000516.7(GNAS):c.384G>A (p.Val128=)
|
rs3730166
|
0.00609
|
NM_016169.4(SUFU):c.-33C>T
|
rs201649559
|
0.00587
|
NM_000516.7(GNAS):c.366C>T (p.Pro122=)
|
rs35287986
|
0.00583
|
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)
|
rs74897360
|
0.00538
|
NM_022124.6(CDH23):c.1449+76C>A
|
rs41281304
|
0.00518
|
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)
|
rs28897734
|
0.00488
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
NM_016169.4(SUFU):c.*2157C>T
|
rs181690906
|
0.00474
|
NM_080425.4(GNAS):c.1221C>G (p.Thr407=)
|
rs200430001
|
0.00433
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
NM_016169.4(SUFU):c.*2720C>T
|
rs41287468
|
0.00417
|
NM_016169.4(SUFU):c.*505T>G
|
rs116570216
|
0.00412
|
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)
|
rs4135386
|
0.00390
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_016169.4(SUFU):c.*2172G>A
|
rs540579682
|
0.00367
|
NM_016169.4(SUFU):c.*3268G>C
|
rs150653416
|
0.00308
|
NM_004304.5(ALK):c.3837-9_3837-7dup
|
rs373764155
|
0.00279
|
NM_016169.4(SUFU):c.*61G>A
|
rs184505927
|
0.00249
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_003640.5(ELP1):c.2204+18G>C
|
rs115641835
|
0.00213
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_080425.4(GNAS):c.484A>G (p.Met162Val)
|
rs138731520
|
0.00192
|
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)
|
rs11573598
|
0.00155
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His)
|
rs138588008
|
0.00103
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
0.00096
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_016592.5(GNAS):c.537G>A (p.Pro179=)
|
rs181594534
|
0.00072
|
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)
|
rs55639415
|
0.00069
|
NM_001904.4(CTNNB1):c.1683+17A>G
|
rs2276826
|
0.00068
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_022124.6(CDH23):c.832+8A>G
|
rs56129333
|
0.00048
|
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)
|
rs74692094
|
0.00041
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
NM_003640.5(ELP1):c.909C>G (p.Val303=)
|
rs142420285
|
0.00038
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)
|
rs79538375
|
0.00031
|
NM_016169.4(SUFU):c.198C>T (p.Asp66=)
|
rs189500468
|
0.00031
|
NM_016169.4(SUFU):c.318-17C>A
|
rs201198734
|
0.00029
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_080425.4(GNAS):c.1395A>C (p.Pro465=)
|
rs56213454
|
0.00027
|
NM_000059.4(BRCA2):c.1395A>C (p.Val465=)
|
rs11571641
|
0.00026
|
NM_003640.5(ELP1):c.3855+19G>A
|
rs113767921
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=)
|
rs369047997
|
0.00025
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
NM_000516.7(GNAS):c.312+17T>C
|
rs78999525
|
0.00022
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
NM_016169.4(SUFU):c.*2140G>T
|
rs543282016
|
0.00019
|
NM_016169.4(SUFU):c.1308C>T (p.Thr436=)
|
rs142029957
|
0.00018
|
NM_000516.7(GNAS):c.530+11G>A
|
rs74474807
|
0.00017
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
NM_003640.5(ELP1):c.3477C>T (p.His1159=)
|
rs141257064
|
0.00016
|
NM_003738.5(PTCH2):c.2661C>T (p.His887=)
|
rs149815763
|
0.00016
|
NM_016169.4(SUFU):c.255C>T (p.Pro85=)
|
rs113671745
|
0.00016
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
NM_000516.7(GNAS):c.1038+17_1038+20del
|
rs773644530
|
0.00013
|
NM_000516.7(GNAS):c.213-11C>T
|
rs369370389
|
0.00013
|
NM_003977.4(AIP):c.906G>A (p.Val302=)
|
rs142912418
|
0.00013
|
NM_003640.5(ELP1):c.2205-7C>T
|
rs148221146
|
0.00012
|
NM_003977.4(AIP):c.733G>A (p.Glu245Lys)
|
rs150645662
|
0.00012
|
NM_016169.4(SUFU):c.1297-13T>C
|
rs557592503
|
0.00012
|
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)
|
rs41293491
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_003640.5(ELP1):c.1644-13T>C
|
rs557540663
|
0.00009
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)
|
rs771084342
|
0.00009
|
NM_016169.4(SUFU):c.183-20_183-19del
|
rs763795960
|
0.00009
|
NM_016169.4(SUFU):c.879C>T (p.Ile293=)
|
rs370516021
|
0.00009
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)
|
rs376517306
|
0.00008
|
NM_003640.5(ELP1):c.1599A>G (p.Ala533=)
|
rs771318456
|
0.00007
|
NM_003977.4(AIP):c.609C>T (p.Tyr203=)
|
rs146317385
|
0.00007
|
NM_016169.4(SUFU):c.1023-20T>C
|
rs373445321
|
0.00007
|
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)
|
rs181611778
|
0.00007
|
NM_000516.7(GNAS):c.357G>A (p.Leu119=)
|
rs368741499
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_016169.4(SUFU):c.1113G>A (p.Leu371=)
|
rs745349651
|
0.00006
|
NM_016169.4(SUFU):c.757-20C>T
|
rs370544916
|
0.00006
|
NM_016169.4(SUFU):c.911-7G>A
|
rs558661774
|
0.00006
|
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)
|
rs148160011
|
0.00006
|
NM_000516.7(GNAS):c.1039-4G>A
|
rs575570315
|
0.00005
|
NM_000516.7(GNAS):c.576G>T (p.Pro192=)
|
rs558915293
|
0.00005
|
NM_003640.5(ELP1):c.3360T>C (p.Tyr1120=)
|
rs766875245
|
0.00005
|
NM_003640.5(ELP1):c.617T>G (p.Phe206Cys)
|
rs184739734
|
0.00005
|
NM_016169.4(SUFU):c.1059G>A (p.Thr353=)
|
rs780683814
|
0.00005
|
NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)
|
rs552813440
|
0.00005
|
NM_000516.7(GNAS):c.684C>T (p.Arg228=)
|
rs147984566
|
0.00004
|
NM_000516.7(GNAS):c.936T>C (p.Phe312=)
|
rs764458531
|
0.00004
|
NM_003640.5(ELP1):c.1536C>T (p.Asp512=)
|
rs751808911
|
0.00004
|
NM_003640.5(ELP1):c.3456T>C (p.Gly1152=)
|
rs746303238
|
0.00004
|
NM_003640.5(ELP1):c.3932-18T>G
|
rs767184876
|
0.00004
|
NM_003640.5(ELP1):c.865-9C>T
|
rs748084965
|
0.00004
|
NM_003640.5(ELP1):c.958+20C>T
|
rs370413742
|
0.00004
|
NM_016169.4(SUFU):c.1297-16C>T
|
rs763761235
|
0.00004
|
NM_016169.4(SUFU):c.183-17T>C
|
rs767300975
|
0.00004
|
NM_016169.4(SUFU):c.537G>A (p.Leu179=)
|
rs139580429
|
0.00004
|
NM_016169.4(SUFU):c.777C>T (p.Ile259=)
|
rs749533220
|
0.00004
|
NM_016169.4(SUFU):c.855C>T (p.Asp285=)
|
rs200206997
|
0.00004
|
NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)
|
rs201342585
|
0.00004
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000516.7(GNAS):c.1131C>T (p.Asn377=)
|
rs140075370
|
0.00003
|
NM_000516.7(GNAS):c.660-19C>T
|
rs370723643
|
0.00003
|
NM_003640.5(ELP1):c.2790T>C (p.Asn930=)
|
rs1057521262
|
0.00003
|
NM_003977.4(AIP):c.573C>T (p.Arg191=)
|
rs781545373
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_016169.4(SUFU):c.1157+3G>A
|
rs764861812
|
0.00003
|
NM_016169.4(SUFU):c.126C>G (p.Arg42=)
|
rs779935477
|
0.00003
|
NM_016169.4(SUFU):c.1366-8C>T
|
rs1212706214
|
0.00003
|
NM_016169.4(SUFU):c.1428C>T (p.Asp476=)
|
rs777069460
|
0.00003
|
NM_016169.4(SUFU):c.1446G>A (p.Pro482=)
|
rs761389038
|
0.00003
|
NM_016169.4(SUFU):c.411C>T (p.Pro137=)
|
rs946508687
|
0.00003
|
NM_016169.4(SUFU):c.474G>A (p.Gly158=)
|
rs375178556
|
0.00003
|
NM_016169.4(SUFU):c.543G>A (p.Glu181=)
|
rs1211026296
|
0.00003
|
NM_016169.4(SUFU):c.666G>T (p.Leu222=)
|
rs142383792
|
0.00003
|
NM_016169.4(SUFU):c.873C>T (p.Ile291=)
|
rs763453891
|
0.00003
|
NM_016169.4(SUFU):c.96G>C (p.Pro32=)
|
rs1483435746
|
0.00003
|
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)
|
rs28897709
|
0.00002
|
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)
|
rs1057522378
|
0.00002
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_003640.5(ELP1):c.2587+10C>T
|
rs771045250
|
0.00002
|
NM_003640.5(ELP1):c.3324C>T (p.Asn1108=)
|
rs372541751
|
0.00002
|
NM_003640.5(ELP1):c.447T>C (p.His149=)
|
rs775602185
|
0.00002
|
NM_016169.4(SUFU):c.1008C>T (p.Ala336=)
|
rs770049693
|
0.00002
|
NM_016169.4(SUFU):c.1157+7G>A
|
rs371548374
|
0.00002
|
NM_016169.4(SUFU):c.1221G>A (p.Thr407=)
|
rs555064651
|
0.00002
|
NM_016169.4(SUFU):c.1300C>T (p.Leu434=)
|
rs369670140
|
0.00002
|
NM_016169.4(SUFU):c.1437C>T (p.Phe479=)
|
rs768454343
|
0.00002
|
NM_016169.4(SUFU):c.405A>G (p.Thr135=)
|
rs760827494
|
0.00002
|
NM_016169.4(SUFU):c.441C>T (p.Tyr147=)
|
rs201489422
|
0.00002
|
NM_016169.4(SUFU):c.455-18C>T
|
rs760955559
|
0.00002
|
NM_016169.4(SUFU):c.597+6G>A
|
rs1038799345
|
0.00002
|
NM_016169.4(SUFU):c.678G>A (p.Val226=)
|
rs201328407
|
0.00002
|
NM_016169.4(SUFU):c.683+8C>T
|
rs369232884
|
0.00002
|
NM_016169.4(SUFU):c.684-14T>G
|
rs2063433799
|
0.00002
|
NM_016169.4(SUFU):c.684-17C>G
|
rs1454924481
|
0.00002
|
NM_016169.4(SUFU):c.715C>A (p.Arg239=)
|
rs369465986
|
0.00002
|
NM_016169.4(SUFU):c.807C>T (p.Val269=)
|
rs919110211
|
0.00002
|
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala)
|
rs80358393
|
0.00001
|
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)
|
rs779075029
|
0.00001
|
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)
|
rs786201237
|
0.00001
|
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)
|
rs762458631
|
0.00001
|
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)
|
rs750651726
|
0.00001
|
NM_000516.7(GNAS):c.111C>T (p.Tyr37=)
|
rs749235261
|
0.00001
|
NM_000516.7(GNAS):c.136C>T (p.Leu46=)
|
rs775009418
|
0.00001
|
NM_000516.7(GNAS):c.258-7A>C
|
rs1183884518
|
0.00001
|
NM_000516.7(GNAS):c.660-15C>A
|
rs755766644
|
0.00001
|
NM_000516.7(GNAS):c.738C>T (p.Phe246=)
|
rs772094317
|
0.00001
|
NM_003640.5(ELP1):c.1190-4G>A
|
rs774965847
|
0.00001
|
NM_003640.5(ELP1):c.1263A>G (p.Pro421=)
|
rs371100951
|
0.00001
|
NM_003640.5(ELP1):c.1909-17C>G
|
rs373498962
|
0.00001
|
NM_003640.5(ELP1):c.2460C>T (p.Cys820=)
|
rs181121832
|
0.00001
|
NM_003640.5(ELP1):c.2547A>G (p.Pro849=)
|
rs764837607
|
0.00001
|
NM_003640.5(ELP1):c.2778A>G (p.Lys926=)
|
rs751179612
|
0.00001
|
NM_003640.5(ELP1):c.2847C>T (p.His949=)
|
rs529456133
|
0.00001
|
NM_003640.5(ELP1):c.3205T>C (p.Leu1069=)
|
rs112178985
|
0.00001
|
NM_003640.5(ELP1):c.3819T>C (p.Ile1273=)
|
rs201242444
|
0.00001
|
NM_003640.5(ELP1):c.3855+18C>T
|
rs557015443
|
0.00001
|
NM_003640.5(ELP1):c.888A>G (p.Ala296=)
|
rs371923882
|
0.00001
|
NM_003977.4(AIP):c.792C>T (p.Asn264=)
|
rs780707460
|
0.00001
|
NM_016169.4(SUFU):c.1005C>T (p.Leu335=)
|
rs575246362
|
0.00001
|
NM_016169.4(SUFU):c.1011C>T (p.His337=)
|
rs747747662
|
0.00001
|
NM_016169.4(SUFU):c.1022+12A>G
|
rs2063496960
|
0.00001
|
NM_016169.4(SUFU):c.1022+14T>C
|
rs758576759
|
0.00001
|
NM_016169.4(SUFU):c.1022+16T>C
|
rs764272302
|
0.00001
|
NM_016169.4(SUFU):c.1023-16T>C
|
rs762717407
|
0.00001
|
NM_016169.4(SUFU):c.1023-18C>A
|
rs892399500
|
0.00001
|
NM_016169.4(SUFU):c.1089G>A (p.Thr363=)
|
rs1438357532
|
0.00001
|
NM_016169.4(SUFU):c.1089G>T (p.Thr363=)
|
rs1438357532
|
0.00001
|
NM_016169.4(SUFU):c.1104C>T (p.Ser368=)
|
rs746580970
|
0.00001
|
NM_016169.4(SUFU):c.1131C>T (p.Ser377=)
|
rs775396007
|
0.00001
|
NM_016169.4(SUFU):c.1146T>G (p.Pro382=)
|
rs1159204850
|
0.00001
|
NM_016169.4(SUFU):c.1157+14C>A
|
rs2063675828
|
0.00001
|
NM_016169.4(SUFU):c.1157+6C>T
|
rs535323089
|
0.00001
|
NM_016169.4(SUFU):c.1158-8A>G
|
rs749166919
|
0.00001
|
NM_016169.4(SUFU):c.1176A>G (p.Gly392=)
|
rs771819487
|
0.00001
|
NM_016169.4(SUFU):c.1188A>C (p.Thr396=)
|
rs1418070936
|
0.00001
|
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=)
|
rs895235845
|
0.00001
|
NM_016169.4(SUFU):c.1218C>A (p.Ile406=)
|
rs1416629342
|
0.00001
|
NM_016169.4(SUFU):c.1227C>G (p.Val409=)
|
rs753190647
|
0.00001
|
NM_016169.4(SUFU):c.123C>T (p.Cys41=)
|
rs1412892420
|
0.00001
|
NM_016169.4(SUFU):c.1275G>A (p.Ala425=)
|
rs771832461
|
0.00001
|
NM_016169.4(SUFU):c.1296+9G>T
|
rs759664715
|
0.00001
|
NM_016169.4(SUFU):c.1317T>C (p.Phe439=)
|
rs748603932
|
0.00001
|
NM_016169.4(SUFU):c.135C>T (p.Tyr45=)
|
rs1342856960
|
0.00001
|
NM_016169.4(SUFU):c.1362G>A (p.Glu454=)
|
rs771380823
|
0.00001
|
NM_016169.4(SUFU):c.1365+13G>C
|
rs1370046167
|
0.00001
|
NM_016169.4(SUFU):c.1366-18T>C
|
rs778922691
|
0.00001
|
NM_016169.4(SUFU):c.1366-4A>G
|
rs201139426
|
0.00001
|
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=)
|
rs2063824214
|
0.00001
|
NM_016169.4(SUFU):c.1455G>A (p.Ter485=)
|
rs773021913
|
0.00001
|
NM_016169.4(SUFU):c.182+11G>A
|
rs766984305
|
0.00001
|
NM_016169.4(SUFU):c.182+8C>G
|
rs751208244
|
0.00001
|
NM_016169.4(SUFU):c.252C>A (p.Ile84=)
|
rs1437282528
|
0.00001
|
NM_016169.4(SUFU):c.267C>T (p.His89=)
|
rs1236109627
|
0.00001
|
NM_016169.4(SUFU):c.279C>T (p.Phe93=)
|
rs770218907
|
0.00001
|
NM_016169.4(SUFU):c.300T>A (p.Gly100=)
|
rs775876798
|
0.00001
|
NM_016169.4(SUFU):c.30C>T (p.Pro10=)
|
rs1315277679
|
0.00001
|
NM_016169.4(SUFU):c.317+15C>A
|
rs760470575
|
0.00001
|
NM_016169.4(SUFU):c.318-11A>C
|
rs1485269392
|
0.00001
|
NM_016169.4(SUFU):c.318-7C>G
|
rs751778806
|
0.00001
|
NM_016169.4(SUFU):c.363C>A (p.Thr121=)
|
rs910976342
|
0.00001
|
NM_016169.4(SUFU):c.444G>A (p.Val148=)
|
rs757424197
|
0.00001
|
NM_016169.4(SUFU):c.454+11dup
|
rs756465918
|
0.00001
|
NM_016169.4(SUFU):c.45C>T (p.Pro15=)
|
rs767543227
|
0.00001
|
NM_016169.4(SUFU):c.477C>T (p.Asp159=)
|
rs2063415176
|
0.00001
|
NM_016169.4(SUFU):c.480T>C (p.His160=)
|
rs1308247295
|
0.00001
|
NM_016169.4(SUFU):c.561C>T (p.Pro187=)
|
rs769503197
|
0.00001
|
NM_016169.4(SUFU):c.579G>A (p.Gly193=)
|
rs1590061953
|
0.00001
|
NM_016169.4(SUFU):c.591C>T (p.Phe197=)
|
rs748830496
|
0.00001
|
NM_016169.4(SUFU):c.597+12G>T
|
rs200418460
|
0.00001
|
NM_016169.4(SUFU):c.597+18C>T
|
rs761796540
|
0.00001
|
NM_016169.4(SUFU):c.598-12C>T
|
rs768142814
|
0.00001
|
NM_016169.4(SUFU):c.609C>T (p.Val203=)
|
rs1267238528
|
0.00001
|
NM_016169.4(SUFU):c.615T>C (p.Thr205=)
|
rs1187200623
|
0.00001
|
NM_016169.4(SUFU):c.683+12T>C
|
rs1164701799
|
0.00001
|
NM_016169.4(SUFU):c.683+17G>A
|
rs1027742260
|
0.00001
|
NM_016169.4(SUFU):c.684-12C>T
|
rs1211187751
|
0.00001
|
NM_016169.4(SUFU):c.684-9T>C
|
rs746032665
|
0.00001
|
NM_016169.4(SUFU):c.690C>T (p.Gly230=)
|
rs775675385
|
0.00001
|
NM_016169.4(SUFU):c.693C>A (p.Gly231=)
|
rs200885602
|
0.00001
|
NM_016169.4(SUFU):c.726G>A (p.Glu242=)
|
rs1166474720
|
0.00001
|
NM_016169.4(SUFU):c.753G>A (p.Leu251=)
|
rs2063435526
|
0.00001
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
NM_016169.4(SUFU):c.756A>G (p.Gln252=)
|
rs1317467424
|
0.00001
|
NM_016169.4(SUFU):c.843C>T (p.Pro281=)
|
rs1590066015
|
0.00001
|
NM_016169.4(SUFU):c.846C>T (p.Pro282=)
|
rs762558038
|
0.00001
|
NM_016169.4(SUFU):c.849G>A (p.Glu283=)
|
rs751057597
|
0.00001
|
NM_016169.4(SUFU):c.84G>T (p.Ser28=)
|
rs376752468
|
0.00001
|
NM_016169.4(SUFU):c.894G>T (p.Arg298=)
|
rs372636246
|
0.00001
|
NM_016169.4(SUFU):c.910+20A>G
|
rs1442018997
|
0.00001
|
NM_016169.4(SUFU):c.910+8C>G
|
rs1159461161
|
0.00001
|
NM_016169.4(SUFU):c.910+9C>T
|
rs998413406
|
0.00001
|
NM_016169.4(SUFU):c.911-19C>T
|
rs1053684007
|
0.00001
|
NM_016169.4(SUFU):c.933C>A (p.Thr311=)
|
rs767071744
|
0.00001
|
NM_016169.4(SUFU):c.948C>G (p.Leu316=)
|
rs1236947004
|
0.00001
|
NM_016169.4(SUFU):c.96G>A (p.Pro32=)
|
rs1483435746
|
0.00001
|
NM_016169.4(SUFU):c.975A>G (p.Pro325=)
|
rs1045258578
|
0.00001
|
NM_016169.4(SUFU):c.987T>C (p.Pro329=)
|
rs906267027
|
0.00001
|
NM_016169.4(SUFU):c.9G>A (p.Glu3=)
|
rs561651427
|
0.00001
|
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)
|
rs370591460
|
|
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)
|
rs80359793
|
|
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)
|
rs786201328
|
|
NM_000059.4(BRCA2):c.68-7dup
|
rs276174878
|
|
NM_000455.5(STK11):c.1284G>C (p.Ser428=)
|
rs369097329
|
|
NM_000516.7(GNAS):c.432C>T (p.Pro144=)
|
rs11554266
|
|
NM_000516.7(GNAS):c.75G>A (p.Lys25=)
|
rs1326256762
|
|
NM_001370259.2(MEN1):c.913-79T>A
|
|
|
NM_003640.5(ELP1):c.1644-13dup
|
rs756059162
|
|
NM_003640.5(ELP1):c.2283+11_2283+15del
|
rs778115996
|
|
NM_003640.5(ELP1):c.2826A>T (p.Arg942=)
|
rs780726202
|
|
NM_003640.5(ELP1):c.2908T>C (p.Leu970=)
|
rs180931232
|
|
NM_003640.5(ELP1):c.3069G>A (p.Leu1023=)
|
rs1063110
|
|
NM_003640.5(ELP1):c.958+19_958+20delinsAT
|
rs2132024951
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_016169.4(SUFU):c.*2150G>A
|
rs561461171
|
|
NM_016169.4(SUFU):c.*742G>A
|
rs142145337
|
|
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
|
|
|
NM_016169.4(SUFU):c.1017G>A (p.Arg339=)
|
rs2063496731
|
|
NM_016169.4(SUFU):c.1022+10C>T
|
|
|
NM_016169.4(SUFU):c.1022+12A>C
|
|
|
NM_016169.4(SUFU):c.1022+15G>A
|
|
|
NM_016169.4(SUFU):c.1022+20del
|
rs1265431746
|
|
NM_016169.4(SUFU):c.1023-12C>T
|
|
|
NM_016169.4(SUFU):c.1023-14T>C
|
|
|
NM_016169.4(SUFU):c.1023-15G>A
|
|
|
NM_016169.4(SUFU):c.1023-18C>G
|
|
|
NM_016169.4(SUFU):c.1023-18C>T
|
rs892399500
|
|
NM_016169.4(SUFU):c.1023-19T>C
|
|
|
NM_016169.4(SUFU):c.1023-3C>T
|
rs550262133
|
|
NM_016169.4(SUFU):c.1023-6T>C
|
rs2063672832
|
|
NM_016169.4(SUFU):c.1023-8C>T
|
rs1554854552
|
|
NM_016169.4(SUFU):c.1023-9G>C
|
rs1590082088
|
|
NM_016169.4(SUFU):c.1023G>A (p.Pro341=)
|
rs2135929726
|
|
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
|
|
|
NM_016169.4(SUFU):c.1056C>A (p.Ser352=)
|
rs1590082153
|
|
NM_016169.4(SUFU):c.1056C>T (p.Ser352=)
|
rs1590082153
|
|
NM_016169.4(SUFU):c.105C>T (p.His35=)
|
|
|
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
|
|
|
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
|
|
|
NM_016169.4(SUFU):c.1071C>T (p.Pro357=)
|
rs1590082185
|
|
NM_016169.4(SUFU):c.1077G>A (p.Glu359=)
|
rs1590082194
|
|
NM_016169.4(SUFU):c.1090C>A (p.Arg364=)
|
rs1305395503
|
|
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
|
|
|
NM_016169.4(SUFU):c.1122C>T (p.Asn374=)
|
rs1590082264
|
|
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
|
|
|
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
|
|
|
NM_016169.4(SUFU):c.1146T>C (p.Pro382=)
|
rs1159204850
|
|
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
|
|
|
NM_016169.4(SUFU):c.1152C>T (p.Cys384=)
|
rs1590082342
|
|
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
|
|
|
NM_016169.4(SUFU):c.1157+11C>T
|
|
|
NM_016169.4(SUFU):c.1157+13del
|
|
|
NM_016169.4(SUFU):c.1157+14C>T
|
rs2063675828
|
|
NM_016169.4(SUFU):c.1157+17T>G
|
rs2135930605
|
|
NM_016169.4(SUFU):c.1157+20CA[4]
|
|
|
NM_016169.4(SUFU):c.1157+7G>C
|
rs371548374
|
|
NM_016169.4(SUFU):c.1158-10C>T
|
rs904045520
|
|
NM_016169.4(SUFU):c.1158-10_1158-9insT
|
rs2135934819
|
|
NM_016169.4(SUFU):c.1158-11C>T
|
rs2135934809
|
|
NM_016169.4(SUFU):c.1158-13T>A
|
|
|
NM_016169.4(SUFU):c.1158-13T>G
|
|
|
NM_016169.4(SUFU):c.1158-15T>C
|
rs998644443
|
|
NM_016169.4(SUFU):c.1158-18C>G
|
rs2135934793
|
|
NM_016169.4(SUFU):c.1158-18_1158-15dup
|
rs2063696440
|
|
NM_016169.4(SUFU):c.1158-4C>T
|
rs768603330
|
|
NM_016169.4(SUFU):c.1158-8_1158-7insCTG
|
rs2135934830
|
|
NM_016169.4(SUFU):c.1158-9C>T
|
|
|
NM_016169.4(SUFU):c.1158G>A (p.Arg386=)
|
rs773979098
|
|
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
|
|
|
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
|
|
|
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
|
|
|
NM_016169.4(SUFU):c.1185T>C (p.Phe395=)
|
rs760982248
|
|
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
|
|
|
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
|
|
|
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
|
|
|
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
|
|
|
NM_016169.4(SUFU):c.1254C>A (p.Ala418=)
|
rs1554854775
|
|
NM_016169.4(SUFU):c.1254C>T (p.Ala418=)
|
rs1554854775
|
|
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
|
|
|
NM_016169.4(SUFU):c.1284A>G (p.Gly428=)
|
rs2135935488
|
|
NM_016169.4(SUFU):c.1287C>G (p.Pro429=)
|
rs2135935515
|
|
NM_016169.4(SUFU):c.1293A>G (p.Leu431=)
|
rs2135935555
|
|
NM_016169.4(SUFU):c.1296+13_1296+91del
|
|
|
NM_016169.4(SUFU):c.1296+14T>G
|
rs1489647547
|
|
NM_016169.4(SUFU):c.1296+18C>A
|
|
|
NM_016169.4(SUFU):c.1296+18dup
|
|
|
NM_016169.4(SUFU):c.1297-12G>A
|
|
|
NM_016169.4(SUFU):c.1297-15C>T
|
|
|
NM_016169.4(SUFU):c.1297-19C>G
|
|
|
NM_016169.4(SUFU):c.1297-5C>T
|
rs1275187815
|
|
NM_016169.4(SUFU):c.1297-7T>C
|
|
|
NM_016169.4(SUFU):c.129C>G (p.Arg43=)
|
rs1453485604
|
|
NM_016169.4(SUFU):c.129C>T (p.Arg43=)
|
rs1453485604
|
|
NM_016169.4(SUFU):c.1302G>A (p.Leu434=)
|
rs780117353
|
|
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
|
|
|
NM_016169.4(SUFU):c.1365+13G>A
|
|
|
NM_016169.4(SUFU):c.1365+6C>A
|
rs2063794144
|
|
NM_016169.4(SUFU):c.1365+7T>A
|
|
|
NM_016169.4(SUFU):c.1365+8T>C
|
|
|
NM_016169.4(SUFU):c.1366-13G>C
|
|
|
NM_016169.4(SUFU):c.1366-15T>A
|
|
|
NM_016169.4(SUFU):c.1366-17G>C
|
|
|
NM_016169.4(SUFU):c.1366-6C>T
|
rs1564712471
|
|
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
|
|
|
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
|
|
|
NM_016169.4(SUFU):c.1398A>G (p.Glu466=)
|
rs2135959452
|
|
NM_016169.4(SUFU):c.1416C>T (p.Ser472=)
|
rs1318853616
|
|
NM_016169.4(SUFU):c.1419C>T (p.Ile473=)
|
rs1342217589
|
|
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
|
|
|
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
|
|
|
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
|
|
|
NM_016169.4(SUFU):c.1452C>T (p.His484=)
|
rs2135959647
|
|
NM_016169.4(SUFU):c.147G>A (p.Pro49=)
|
rs1554840859
|
|
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
|
|
|
NM_016169.4(SUFU):c.156C>T (p.Leu52=)
|
rs1589970169
|
|
NM_016169.4(SUFU):c.15G>A (p.Arg5=)
|
rs2062288402
|
|
NM_016169.4(SUFU):c.171C>T (p.Ile57=)
|
rs1283661186
|
|
NM_016169.4(SUFU):c.182+14C>G
|
rs1256929705
|
|
NM_016169.4(SUFU):c.182+17G>T
|
rs2135599022
|
|
NM_016169.4(SUFU):c.182+18G>C
|
|
|
NM_016169.4(SUFU):c.182+20G>A
|
rs2135599029
|
|
NM_016169.4(SUFU):c.182+7T>A
|
rs759858682
|
|
NM_016169.4(SUFU):c.182+7T>C
|
rs759858682
|
|
NM_016169.4(SUFU):c.182+9T>C
|
rs756923648
|
|
NM_016169.4(SUFU):c.183-10T>C
|
rs1060504148
|
|
NM_016169.4(SUFU):c.183-11G>T
|
|
|
NM_016169.4(SUFU):c.183-13T>C
|
|
|
NM_016169.4(SUFU):c.183-16G>A
|
rs2135619783
|
|
NM_016169.4(SUFU):c.183-18G>C
|
|
|
NM_016169.4(SUFU):c.183-20C>T
|
rs761472045
|
|
NM_016169.4(SUFU):c.183-4del
|
rs1345403982
|
|
NM_016169.4(SUFU):c.189T>C (p.Gly63=)
|
rs2135619936
|
|
NM_016169.4(SUFU):c.192C>T (p.Gly64=)
|
rs2135619956
|
|
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
|
|
|
NM_016169.4(SUFU):c.202T>C (p.Leu68=)
|
rs1589975244
|
|
NM_016169.4(SUFU):c.207C>T (p.Asp69=)
|
rs778708985
|
|
NM_016169.4(SUFU):c.231G>T (p.Val77=)
|
|
|
NM_016169.4(SUFU):c.240T>G (p.Pro80=)
|
rs2135620342
|
|
NM_016169.4(SUFU):c.255C>G (p.Pro85=)
|
rs113671745
|
|
NM_016169.4(SUFU):c.258G>A (p.Glu86=)
|
rs1183328233
|
|
NM_016169.4(SUFU):c.261C>T (p.His87=)
|
|
|
NM_016169.4(SUFU):c.270C>T (p.Tyr90=)
|
rs2135620594
|
|
NM_016169.4(SUFU):c.27C>A (p.Ala9=)
|
rs1244167364
|
|
NM_016169.4(SUFU):c.285G>A (p.Leu95=)
|
rs1589975337
|
|
NM_016169.4(SUFU):c.285G>C (p.Leu95=)
|
rs1589975337
|
|
NM_016169.4(SUFU):c.285G>T (p.Leu95=)
|
rs1589975337
|
|
NM_016169.4(SUFU):c.317+11G>A
|
|
|
NM_016169.4(SUFU):c.317+12C>T
|
|
|
NM_016169.4(SUFU):c.317+15C>T
|
|
|
NM_016169.4(SUFU):c.317+18G>C
|
rs765919055
|
|
NM_016169.4(SUFU):c.317+7A>G
|
|
|
NM_016169.4(SUFU):c.317+9A>C
|
rs1333202541
|
|
NM_016169.4(SUFU):c.317+9A>G
|
|
|
NM_016169.4(SUFU):c.318-10T>C
|
rs2062894940
|
|
NM_016169.4(SUFU):c.318-11A>G
|
|
|
NM_016169.4(SUFU):c.318-11del
|
|
|
NM_016169.4(SUFU):c.318-17C>T
|
|
|
NM_016169.4(SUFU):c.318-19del
|
|
|
NM_016169.4(SUFU):c.318-22_318-19del
|
|
|
NM_016169.4(SUFU):c.318-9G>A
|
|
|
NM_016169.4(SUFU):c.318G>A (p.Glu106=)
|
rs1188593672
|
|
NM_016169.4(SUFU):c.327A>G (p.Gly109=)
|
rs2135743007
|
|
NM_016169.4(SUFU):c.33C>T (p.Gly11=)
|
rs12780566
|
|
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
|
|
|
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
|
|
|
NM_016169.4(SUFU):c.363C>T (p.Thr121=)
|
rs910976342
|
|
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=)
|
rs2135743228
|
|
NM_016169.4(SUFU):c.36C>G (p.Pro12=)
|
rs1564654365
|
|
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
|
|
|
NM_016169.4(SUFU):c.375G>A (p.Lys125=)
|
rs184867271
|
|
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
|
|
|
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
|
|
|
NM_016169.4(SUFU):c.411C>A (p.Pro137=)
|
rs946508687
|
|
NM_016169.4(SUFU):c.426G>A (p.Gln142=)
|
rs2135743475
|
|
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
|
|
|
NM_016169.4(SUFU):c.42G>A (p.Ala14=)
|
rs1179829804
|
|
NM_016169.4(SUFU):c.438A>T (p.Arg146=)
|
rs775280499
|
|
NM_016169.4(SUFU):c.447C>T (p.Phe149=)
|
rs2062897233
|
|
NM_016169.4(SUFU):c.454+10C>T
|
rs2135743674
|
|
NM_016169.4(SUFU):c.454+13G>C
|
|
|
NM_016169.4(SUFU):c.454+13_454+14dup
|
rs780518303
|
|
NM_016169.4(SUFU):c.454+15C>T
|
|
|
NM_016169.4(SUFU):c.454+18G>T
|
|
|
NM_016169.4(SUFU):c.454+20TGCTG[3]
|
|
|
NM_016169.4(SUFU):c.454+7G>T
|
|
|
NM_016169.4(SUFU):c.454+8G>A
|
rs1172897703
|
|
NM_016169.4(SUFU):c.455-11C>G
|
|
|
NM_016169.4(SUFU):c.455-13A>G
|
|
|
NM_016169.4(SUFU):c.455-13A>T
|
|
|
NM_016169.4(SUFU):c.455-15G>A
|
|
|
NM_016169.4(SUFU):c.455-17T>G
|
rs2135866499
|
|
NM_016169.4(SUFU):c.455-19C>A
|
rs370818590
|
|
NM_016169.4(SUFU):c.455-19C>T
|
|
|
NM_016169.4(SUFU):c.455-20T>A
|
|
|
NM_016169.4(SUFU):c.455-5C>T
|
rs2135866563
|
|
NM_016169.4(SUFU):c.455-6C>T
|
rs2135866556
|
|
NM_016169.4(SUFU):c.455-9C>T
|
|
|
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
|
|
|
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
|
|
|
NM_016169.4(SUFU):c.48G>T (p.Pro16=)
|
rs1467238395
|
|
NM_016169.4(SUFU):c.492C>T (p.His164=)
|
|
|
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
|
|
|
NM_016169.4(SUFU):c.546C>T (p.Asp182=)
|
rs2135867056
|
|
NM_016169.4(SUFU):c.54T>C (p.Pro18=)
|
rs1453186079
|
|
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
|
|
|
NM_016169.4(SUFU):c.561C>G (p.Pro187=)
|
rs769503197
|
|
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
|
|
|
NM_016169.4(SUFU):c.573C>T (p.Pro191=)
|
rs1170074019
|
|
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
|
|
|
NM_016169.4(SUFU):c.597+11G>A
|
rs754485815
|
|
NM_016169.4(SUFU):c.597+12G>C
|
|
|
NM_016169.4(SUFU):c.597+13T>C
|
|
|
NM_016169.4(SUFU):c.597+19G>A
|
|
|
NM_016169.4(SUFU):c.597+19G>T
|
|
|
NM_016169.4(SUFU):c.597+5G>A
|
rs1590062007
|
|
NM_016169.4(SUFU):c.597+6dup
|
|
|
NM_016169.4(SUFU):c.597+8A>C
|
rs2135867474
|
|
NM_016169.4(SUFU):c.597+9C>A
|
|
|
NM_016169.4(SUFU):c.597+9C>T
|
rs768196164
|
|
NM_016169.4(SUFU):c.598-12C>G
|
|
|
NM_016169.4(SUFU):c.598-14A>G
|
|
|
NM_016169.4(SUFU):c.598-18T>C
|
|
|
NM_016169.4(SUFU):c.598-4T>C
|
rs2135870306
|
|
NM_016169.4(SUFU):c.598-4T>G
|
rs2135870306
|
|
NM_016169.4(SUFU):c.598-6C>T
|
rs2135870298
|
|
NM_016169.4(SUFU):c.598-8G>C
|
rs2135870288
|
|
NM_016169.4(SUFU):c.598-8G>T
|
rs2135870288
|
|
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
|
|
|
NM_016169.4(SUFU):c.603T>C (p.Val201=)
|
rs1554852370
|
|
NM_016169.4(SUFU):c.60G>T (p.Pro20=)
|
rs1589969926
|
|
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
|
|
|
NM_016169.4(SUFU):c.624A>G (p.Leu208=)
|
rs761722899
|
|
NM_016169.4(SUFU):c.633C>T (p.Ala211=)
|
rs2135870571
|
|
NM_016169.4(SUFU):c.639G>A (p.Gln213=)
|
rs1590062886
|
|
NM_016169.4(SUFU):c.63T>C (p.Thr21=)
|
rs1589969931
|
|
NM_016169.4(SUFU):c.654C>A (p.Gly218=)
|
rs1227186441
|
|
NM_016169.4(SUFU):c.654C>T (p.Gly218=)
|
rs1227186441
|
|
NM_016169.4(SUFU):c.660G>A (p.Leu220=)
|
rs2135870749
|
|
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
|
|
|
NM_016169.4(SUFU):c.664C>T (p.Leu222=)
|
rs765345575
|
|
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
|
|
|
NM_016169.4(SUFU):c.669G>A (p.Leu223=)
|
rs1432212427
|
|
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
|
|
|
NM_016169.4(SUFU):c.66C>A (p.Ala22=)
|
rs1265496966
|
|
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
|
|
|
NM_016169.4(SUFU):c.66C>T (p.Ala22=)
|
rs1265496966
|
|
NM_016169.4(SUFU):c.678G>T (p.Val226=)
|
|
|
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
|
|
|
NM_016169.4(SUFU):c.683+10C>A
|
|
|
NM_016169.4(SUFU):c.683+10del
|
|
|
NM_016169.4(SUFU):c.683+18G>A
|
|
|
NM_016169.4(SUFU):c.683+19T>C
|
|
|
NM_016169.4(SUFU):c.683+21_683+24dup
|
|
|
NM_016169.4(SUFU):c.683+3G>A
|
rs1590062961
|
|
NM_016169.4(SUFU):c.683+7A>G
|
rs764695403
|
|
NM_016169.4(SUFU):c.683+8C>G
|
|
|
NM_016169.4(SUFU):c.684-11C>T
|
|
|
NM_016169.4(SUFU):c.684-11del
|
rs1650612996
|
|
NM_016169.4(SUFU):c.684-20T>C
|
|
|
NM_016169.4(SUFU):c.684-5C>T
|
|
|
NM_016169.4(SUFU):c.684-6C>T
|
|
|
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
|
|
|
NM_016169.4(SUFU):c.696C>T (p.Pro232=)
|
rs2063434189
|
|
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
|
|
|
NM_016169.4(SUFU):c.69C>T (p.Pro23=)
|
rs1320688671
|
|
NM_016169.4(SUFU):c.6G>A (p.Ala2=)
|
rs746555296
|
|
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
|
|
|
NM_016169.4(SUFU):c.708T>C (p.Thr236=)
|
rs2135872255
|
|
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
|
|
|
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
|
|
|
NM_016169.4(SUFU):c.72G>A (p.Pro24=)
|
rs1322344970
|
|
NM_016169.4(SUFU):c.741C>T (p.Ile247=)
|
rs2135872473
|
|
NM_016169.4(SUFU):c.753G>C (p.Leu251=)
|
rs2063435526
|
|
NM_016169.4(SUFU):c.756+12G>C
|
|
|
NM_016169.4(SUFU):c.756+19A>G
|
|
|
NM_016169.4(SUFU):c.757-11_757-7del
|
rs1060501103
|
|
NM_016169.4(SUFU):c.757-15G>T
|
rs1564698642
|
|
NM_016169.4(SUFU):c.757-17T>G
|
rs2135880991
|
|
NM_016169.4(SUFU):c.757-4G>T
|
rs1554852773
|
|
NM_016169.4(SUFU):c.757-6A>G
|
rs2135881035
|
|
NM_016169.4(SUFU):c.757-7C>T
|
rs2135881029
|
|
NM_016169.4(SUFU):c.762A>G (p.Arg254=)
|
rs2135881090
|
|
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
|
|
|
NM_016169.4(SUFU):c.774C>A (p.Gly258=)
|
rs2063470954
|
|
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
|
|
|
NM_016169.4(SUFU):c.78C>T (p.Phe26=)
|
rs2135597954
|
|
NM_016169.4(SUFU):c.795C>T (p.Asn265=)
|
rs2135881259
|
|
NM_016169.4(SUFU):c.804T>C (p.Gly268=)
|
rs2135881315
|
|
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
|
|
|
NM_016169.4(SUFU):c.822C>T (p.Ala274=)
|
rs2135881424
|
|
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
|
|
|
NM_016169.4(SUFU):c.831C>T (p.Asp277=)
|
rs1340330498
|
|
NM_016169.4(SUFU):c.832C>T (p.Leu278=)
|
rs1060504147
|
|
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
|
|
|
NM_016169.4(SUFU):c.834G>C (p.Leu278=)
|
rs773747013
|
|
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
|
|
|
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
|
|
|
NM_016169.4(SUFU):c.843C>A (p.Pro281=)
|
rs1590066015
|
|
NM_016169.4(SUFU):c.846C>A (p.Pro282=)
|
rs762558038
|
|
NM_016169.4(SUFU):c.846C>G (p.Pro282=)
|
rs762558038
|
|
NM_016169.4(SUFU):c.84G>C (p.Ser28=)
|
rs376752468
|
|
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
|
|
|
NM_016169.4(SUFU):c.870C>T (p.Ser290=)
|
rs970618921
|
|
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
|
|
|
NM_016169.4(SUFU):c.87C>T (p.Leu29=)
|
rs2135598027
|
|
NM_016169.4(SUFU):c.882C>T (p.Gly294=)
|
rs2135882176
|
|
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
|
|
|
NM_016169.4(SUFU):c.885A>G (p.Thr295=)
|
rs2135882202
|
|
NM_016169.4(SUFU):c.891C>G (p.Pro297=)
|
rs1590066144
|
|
NM_016169.4(SUFU):c.900C>T (p.Leu300=)
|
rs1174044335
|
|
NM_016169.4(SUFU):c.90T>C (p.Phe30=)
|
rs1589970035
|
|
NM_016169.4(SUFU):c.910+13A>G
|
|
|
NM_016169.4(SUFU):c.910+15T>G
|
|
|
NM_016169.4(SUFU):c.910+7G>A
|
|
|
NM_016169.4(SUFU):c.910+7G>C
|
|
|
NM_016169.4(SUFU):c.911-10G>A
|
|
|
NM_016169.4(SUFU):c.911-10G>T
|
rs747454071
|
|
NM_016169.4(SUFU):c.911-12G>A
|
rs1455480257
|
|
NM_016169.4(SUFU):c.911-14T>C
|
|
|
NM_016169.4(SUFU):c.911-17T>C
|
rs2063494764
|
|
NM_016169.4(SUFU):c.911-4G>A
|
|
|
NM_016169.4(SUFU):c.911-4G>T
|
rs2135888490
|
|
NM_016169.4(SUFU):c.911-8C>T
|
rs771361493
|
|
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
|
|
|
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
|
|
|
NM_016169.4(SUFU):c.933C>T (p.Thr311=)
|
rs767071744
|
|
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
|
|
|
NM_016169.4(SUFU):c.948C>T (p.Leu316=)
|
rs1236947004
|
|
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
|
|
|
NM_016169.4(SUFU):c.969C>G (p.Val323=)
|
|
|
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
|
|
|
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
|
|
|
NM_016169.4(SUFU):c.978A>T (p.Pro326=)
|
rs2135888873
|
|
NM_016169.4(SUFU):c.987T>G (p.Pro329=)
|
rs906267027
|
|
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)
|
rs111033487
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)
|
rs876657422
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)
|
rs767104257
|
|
NM_080425.4(GNAS):c.1428C>G (p.Ala476=)
|
rs559714658
|
|
NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)
|
rs61749696
|
|