|
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)
|
rs4972450
|
0.92386
|
|
NM_016032.4(ZDHHC9):c.487+15A>G
|
rs2275605
|
0.92100
|
|
NM_000240.4(MAOA):c.891G>T (p.Arg297=)
|
rs6323
|
0.71997
|
|
NM_000240.4(MAOA):c.1410T>C (p.Asp470=)
|
rs1137070
|
0.65298
|
|
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala)
|
rs6979
|
0.60624
|
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
|
NM_001159699.2(FHL1):c.737-8C>T
|
rs2076705
|
0.53498
|
|
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln)
|
rs3088074
|
0.50884
|
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
|
NM_005391.5(PDK3):c.107-7948A>C
|
rs7060702
|
0.46363
|
|
NM_006950.3(SYN1):c.775-8085A>G
|
rs4898
|
0.46249
|
|
NM_001399.5(EDA):c.706+11_706+12del
|
rs10579679
|
0.45223
|
|
NM_002351.4(SH2D1A):c.-346C>T
|
rs12164382
|
0.43694
|
|
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=)
|
rs3027875
|
0.42119
|
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
|
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=)
|
rs730106
|
0.37791
|
|
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro)
|
rs1051152
|
0.37778
|
|
NM_001399.5(EDA):c.742-11C>T
|
rs2296765
|
0.30200
|
|
NM_000475.5(NR0B1):c.498G>A (p.Arg166=)
|
rs2269345
|
0.28771
|
|
NM_000074.3(CD40LG):c.410-13T>C
|
rs3092923
|
0.27747
|
|
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
|
NM_005120.3(MED12):c.736-8A>C
|
rs62609586
|
0.22423
|
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
|
NM_005334.3(HCFC1):c.713-13C>T
|
rs59607260
|
0.19358
|
|
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=)
|
rs2071133
|
0.19260
|
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
|
NM_000074.3(CD40LG):c.148T>C (p.Leu50=)
|
rs1126535
|
0.18453
|
|
NM_000240.4(MAOA):c.385A>C (p.Arg129=)
|
rs1800464
|
0.17743
|
|
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=)
|
rs3027878
|
0.16009
|
|
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=)
|
rs2071134
|
0.15977
|
|
NM_022836.4(DCLRE1B):c.234T>C (p.His78=)
|
rs3761936
|
0.15394
|
|
NM_000475.5(NR0B1):c.114C>T (p.Cys38=)
|
rs6150
|
0.14452
|
|
NM_001079872.2(CUL4B):c.1174-20G>A
|
rs5957408
|
0.14035
|
|
NM_001082486.2(ACD):c.1298+20C>A
|
rs67114979
|
0.13128
|
|
NM_001082486.2(ACD):c.413+3A>G
|
rs8058187
|
0.12302
|
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
|
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=)
|
rs41314153
|
0.08321
|
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
|
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=)
|
rs184087864
|
0.07175
|
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
|
NM_001111125.3(IQSEC2):c.3555A>C (p.Pro1185=)
|
rs1315062158
|
0.05436
|
|
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=)
|
rs3027883
|
0.05020
|
|
NM_005334.3(HCFC1):c.1085-12G>A
|
rs3027893
|
0.04847
|
|
NM_001375834.1(WIPF1):c.957T>G (p.Pro319=)
|
rs112447307
|
0.04681
|
|
NM_001110556.2(FLNA):c.374-19G>A
|
rs2070817
|
0.04163
|
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
|
NM_000252.3(MTM1):c.232-28C>T
|
rs73620649
|
0.03576
|
|
NM_001082486.2(ACD):c.1371G>T (p.Pro457=)
|
rs14920
|
0.03535
|
|
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=)
|
rs1051153
|
0.03363
|
|
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=)
|
rs1051151
|
0.03295
|
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
|
NC_000016.10:g.67660703A>G
|
rs72547496
|
0.03001
|
|
NM_005334.3(HCFC1):c.1605+20G>T
|
rs1002679
|
0.02967
|
|
NM_000074.2(CD40LG):c.-191A>C
|
rs36206512
|
0.02791
|
|
NM_001111125.3(IQSEC2):c.2297+14G>A
|
rs17002631
|
0.02684
|
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
|
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=)
|
rs185512321
|
0.02235
|
|
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=)
|
rs61745228
|
0.02162
|
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
|
NM_139058.3(ARX):c.1347C>T (p.Gly449=)
|
rs75489697
|
0.01993
|
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
|
NM_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
|
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser)
|
rs185987427
|
0.01804
|
|
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=)
|
rs141722238
|
0.01632
|
|
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser)
|
rs56218010
|
0.01619
|
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
|
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn)
|
rs28381079
|
0.01483
|
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
|
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln)
|
rs141326782
|
0.01437
|
|
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605
|
0.01433
|
|
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=)
|
rs16983426
|
0.01400
|
|
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)
|
rs74667788
|
0.01349
|
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
|
NM_001159699.2(FHL1):c.737-13T>C
|
rs11798700
|
0.01269
|
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
|
NM_006950.3(SYN1):c.838-8T>G
|
rs12394306
|
0.01234
|
|
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=)
|
rs76637913
|
0.01192
|
|
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn)
|
rs151315725
|
0.01175
|
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
|
NM_000240.4(MAOA):c.306+16C>A
|
rs148788403
|
0.01100
|
|
NM_000074.3(CD40LG):c.684A>G (p.Val228=)
|
rs11575983
|
0.01089
|
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
|
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg)
|
rs148594123
|
0.01015
|
|
NM_001375834.1(WIPF1):c.1446C>T (p.Asn482=)
|
rs116757787
|
0.01011
|
|
NM_001079872.2(CUL4B):c.1324+15G>A
|
rs143921252
|
0.01002
|
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
|
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=)
|
rs184883626
|
0.00997
|
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
|
NM_001375834.1(WIPF1):c.42G>A (p.Thr14=)
|
rs111761533
|
0.00937
|
|
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr)
|
rs191886831
|
0.00894
|
|
NM_000033.4(ABCD1):c.901-16C>T
|
rs41302176
|
0.00840
|
|
NM_001015877.2(PHF6):c.927C>T (p.Asp309=)
|
rs112199174
|
0.00809
|
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
|
NM_001110556.2(FLNA):c.1829-13T>C
|
rs192905521
|
0.00789
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
|
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105
|
0.00691
|
|
NM_000252.3(MTM1):c.1260+17A>G
|
rs185258809
|
0.00687
|
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
|
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu)
|
rs147189192
|
0.00679
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
NM_000252.3(MTM1):c.136+17A>G
|
rs142891103
|
0.00648
|
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
|
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=)
|
rs140084263
|
0.00624
|
|
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=)
|
rs114337467
|
0.00622
|
|
NM_001375834.1(WIPF1):c.339C>G (p.Ser113=)
|
rs76308107
|
0.00619
|
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
0.00549
|
|
NM_001082486.1(ACD):c.162C>T (p.Pro54=)
|
rs73597595
|
0.00544
|
|
NM_005334.3(HCFC1):c.1445-14C>T
|
rs184593569
|
0.00544
|
|
NM_001159699.2(FHL1):c.204+5C>T
|
rs182106777
|
0.00542
|
|
NM_001082486.2(ACD):c.1207-10C>T
|
rs67185288
|
0.00536
|
|
NM_001082486.2(ACD):c.801C>T (p.Ala267=)
|
rs72549181
|
0.00530
|
|
NM_001375834.1(WIPF1):c.1413G>A (p.Thr471=)
|
rs149092210
|
0.00525
|
|
NM_000033.4(ABCD1):c.901-10C>T
|
rs2269365
|
0.00512
|
|
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=)
|
rs3027882
|
0.00511
|
|
NM_000033.4(ABCD1):c.471A>G (p.Gln157=)
|
rs151148684
|
0.00506
|
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
|
NM_001399.5(EDA):c.381C>T (p.Ser127=)
|
rs148738342
|
0.00480
|
|
NM_001082486.2(ACD):c.494-20C>T
|
rs59443695
|
0.00465
|
|
NM_001111125.3(IQSEC2):c.3015+14G>C
|
rs189183148
|
0.00462
|
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
|
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=)
|
rs3027888
|
0.00450
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_000489.6(ATRX):c.485-17C>G
|
rs193223073
|
0.00422
|
|
NM_001375834.1(WIPF1):c.1296A>G (p.Pro432=)
|
rs76731102
|
0.00414
|
|
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)
|
rs139619000
|
0.00414
|
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
|
NM_000117.3(EMD):c.465C>T (p.Tyr155=)
|
rs143447675
|
0.00404
|
|
NM_001079872.2(CUL4B):c.777-12C>T
|
rs192860595
|
0.00395
|
|
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)
|
rs143580749
|
0.00390
|
|
NM_000240.4(MAOA):c.1374+19G>A
|
rs200078877
|
0.00388
|
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
|
NM_001015877.2(PHF6):c.730-11T>G
|
rs192977933
|
0.00364
|
|
NM_001015877.2(PHF6):c.374+8T>C
|
rs142596708
|
0.00360
|
|
NM_000033.4(ABCD1):c.696G>T (p.Ala232=)
|
rs147595334
|
0.00357
|
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
|
NM_001079872.2(CUL4B):c.2161-15T>G
|
rs183114462
|
0.00355
|
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
|
NM_139058.3(ARX):c.1671G>A (p.Thr557=)
|
rs190910161
|
0.00349
|
|
NM_000252.3(MTM1):c.64-14T>C
|
rs184956219
|
0.00340
|
|
NM_000252.3(MTM1):c.136+9C>T
|
rs191553188
|
0.00337
|
|
NM_139058.3(ARX):c.1074-3T>C
|
rs200700643
|
0.00337
|
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
|
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=)
|
rs34510365
|
0.00316
|
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
|
NM_000074.3(CD40LG):c.81A>G (p.Leu27=)
|
rs36063307
|
0.00313
|
|
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_001111125.3(IQSEC2):c.3277+18G>A
|
rs143966238
|
0.00306
|
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
|
NM_000117.3(EMD):c.83-13C>G
|
rs201140396
|
0.00292
|
|
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=)
|
rs149729439
|
0.00292
|
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
|
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=)
|
rs192386572
|
0.00278
|
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
|
NM_001082486.2(ACD):c.819C>T (p.Pro273=)
|
rs138740815
|
0.00251
|
|
NM_016032.4(ZDHHC9):c.167+10G>A
|
rs140526450
|
0.00244
|
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
|
NM_000240.4(MAOA):c.825G>A (p.Pro275=)
|
rs138703731
|
0.00238
|
|
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
|
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=)
|
rs193148631
|
0.00228
|
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
|
NM_000240.4(MAOA):c.515G>A (p.Arg172Gln)
|
rs58524323
|
0.00220
|
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
|
NM_005120.3(MED12):c.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
|
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys)
|
rs142862074
|
0.00211
|
|
NM_001079872.2(CUL4B):c.1257-19T>C
|
rs201629851
|
0.00205
|
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
|
NM_016032.4(ZDHHC9):c.777+16C>T
|
rs193236859
|
0.00196
|
|
NM_006950.3(SYN1):c.528-19C>T
|
rs190935498
|
0.00192
|
|
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=)
|
rs144843243
|
0.00192
|
|
NM_001082486.2(ACD):c.1336C>T (p.Leu446=)
|
rs1050346
|
0.00188
|
|
NM_001375834.1(WIPF1):c.78T>C (p.Asn26=)
|
rs35923393
|
0.00186
|
|
NM_000240.4(MAOA):c.1165-13C>T
|
rs184965368
|
0.00173
|
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
|
NM_000033.4(ABCD1):c.1393+18C>G
|
rs188551185
|
0.00164
|
|
NM_001159699.2(FHL1):c.489C>T (p.Asp163=)
|
rs149670651
|
0.00162
|
|
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)
|
rs201085962
|
0.00160
|
|
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu)
|
rs189548179
|
0.00157
|
|
NM_006950.3(SYN1):c.980+14C>T
|
rs376734047
|
0.00157
|
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
|
NM_000033.4(ABCD1):c.1634+12C>T
|
rs369538219
|
0.00150
|
|
NM_031206.7(LAS1L):c.1691T>C (p.Val564Ala)
|
rs148989578
|
0.00148
|
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
|
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980
|
0.00138
|
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
|
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=)
|
rs199802825
|
0.00136
|
|
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)
|
rs142507451
|
0.00135
|
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
|
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)
|
rs184162709
|
0.00133
|
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
|
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn)
|
rs201093148
|
0.00128
|
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
|
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys)
|
rs145569979
|
0.00127
|
|
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr)
|
rs35397235
|
0.00126
|
|
NM_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
|
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)
|
rs191365011
|
0.00118
|
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
|
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys)
|
rs3764758
|
0.00118
|
|
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=)
|
rs145183787
|
0.00118
|
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
|
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=)
|
rs782713602
|
0.00115
|
|
NM_005391.5(PDK3):c.376A>G (p.Met126Val)
|
rs138321172
|
0.00115
|
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
|
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)
|
rs149434153
|
0.00113
|
|
NM_000252.3(MTM1):c.339T>C (p.Cys113=)
|
rs147644722
|
0.00111
|
|
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
|
NM_001159699.2(FHL1):c.498C>T (p.Cys166=)
|
rs145445372
|
0.00107
|
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
|
NM_005120.3(MED12):c.2981+13G>A
|
rs73214870
|
0.00105
|
|
NM_004586.3(RPS6KA3):c.631+18G>A
|
rs182515508
|
0.00104
|
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
|
NM_016032.4(ZDHHC9):c.626-10A>T
|
rs188156112
|
0.00103
|
|
NM_001082486.2(ACD):c.132C>T (p.Gly44=)
|
rs138527794
|
0.00102
|
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
|
NM_001111125.3(IQSEC2):c.435C>T (p.Thr145=)
|
rs782726368
|
0.00101
|
|
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=)
|
rs185998087
|
0.00101
|
|
NM_006950.3(SYN1):c.1110C>T (p.Cys370=)
|
rs141925310
|
0.00101
|
|
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=)
|
rs150848826
|
0.00100
|
|
NM_005120.3(MED12):c.438A>G (p.Leu146=)
|
rs35068602
|
0.00100
|
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
|
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala)
|
rs139438549
|
0.00098
|
|
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=)
|
rs371450118
|
0.00097
|
|
NM_001082486.2(ACD):c.444C>T (p.Leu148=)
|
rs151132164
|
0.00096
|
|
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile)
|
rs199511876
|
0.00094
|
|
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=)
|
rs188138322
|
0.00093
|
|
NM_139058.3(ARX):c.802G>T (p.Val268Leu)
|
rs587783141
|
0.00093
|
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
|
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr)
|
rs201404751
|
0.00091
|
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
|
NM_001110556.2(FLNA):c.1066-19C>T
|
rs369196285
|
0.00089
|
|
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr)
|
rs202195978
|
0.00088
|
|
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=)
|
rs200003914
|
0.00085
|
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)
|
rs193922096
|
0.00080
|
|
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)
|
rs146521598
|
0.00080
|
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
|
NM_001167.4(XIAP):c.276T>C (p.Phe92=)
|
rs45575532
|
0.00080
|
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
|
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)
|
rs144594695
|
0.00078
|
|
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=)
|
rs376049260
|
0.00078
|
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
|
NM_001110556.2(FLNA):c.720+12C>T
|
rs367894653
|
0.00076
|
|
NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu)
|
rs148943760
|
0.00076
|
|
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=)
|
rs144160012
|
0.00076
|
|
NM_000117.3(EMD):c.495G>A (p.Thr165=)
|
rs151074632
|
0.00075
|
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
|
NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala)
|
rs200150148
|
0.00075
|
|
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr)
|
rs190023981
|
0.00075
|
|
NM_001159699.2(FHL1):c.786C>T (p.His262=)
|
rs141231353
|
0.00074
|
|
NM_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
|
NM_000377.3(WAS):c.413G>A (p.Arg138Gln)
|
rs139265251
|
0.00073
|
|
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys)
|
rs202109957
|
0.00073
|
|
NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg)
|
rs147080148
|
0.00073
|
|
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp)
|
rs150107747
|
0.00073
|
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
|
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val)
|
rs200728466
|
0.00071
|
|
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=)
|
rs377035512
|
0.00071
|
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001110556.2(FLNA):c.753C>T (p.Asn251=)
|
rs377507152
|
0.00069
|
|
NM_139058.3(ARX):c.447G>C (p.Ala149=)
|
rs745705522
|
0.00069
|
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
|
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)
|
rs138783302
|
0.00068
|
|
NM_005334.3(HCFC1):c.503+14C>G
|
rs371163886
|
0.00068
|
|
NM_001110556.2(FLNA):c.4142+5_4142+14dup
|
rs782735723
|
0.00067
|
|
NM_001159699.2(FHL1):c.114G>A (p.Lys38=)
|
rs140149764
|
0.00067
|
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
|
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=)
|
rs186619828
|
0.00065
|
|
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571
|
0.00065
|
|
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu)
|
rs201713027
|
0.00065
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
|
rs368279501
|
0.00063
|
|
NM_001110556.2(FLNA):c.651C>T (p.Asp217=)
|
rs34644500
|
0.00062
|
|
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys)
|
rs781984542
|
0.00062
|
|
NM_000033.4(ABCD1):c.258C>T (p.Val86=)
|
rs200660869
|
0.00061
|
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
|
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro)
|
rs149027201
|
0.00060
|
|
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=)
|
rs2274308
|
0.00060
|
|
NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu)
|
rs148048579
|
0.00060
|
|
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=)
|
rs140263823
|
0.00058
|
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
|
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
|
rs200399318
|
0.00058
|
|
NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro)
|
rs375440874
|
0.00058
|
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
|
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu)
|
rs144827029
|
0.00057
|
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
|
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys)
|
rs139131007
|
0.00056
|
|
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=)
|
rs149960511
|
0.00056
|
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
|
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=)
|
rs199628956
|
0.00055
|
|
NM_001375834.1(WIPF1):c.182-16G>A
|
rs139908988
|
0.00055
|
|
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr)
|
rs200997332
|
0.00055
|
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
|
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=)
|
rs56375542
|
0.00054
|
|
NM_006950.3(SYN1):c.426A>G (p.Lys142=)
|
rs145911562
|
0.00054
|
|
NM_000252.3(MTM1):c.615G>A (p.Pro205=)
|
rs144517020
|
0.00053
|
|
NM_000377.3(WAS):c.90C>T (p.His30=)
|
rs148800063
|
0.00053
|
|
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)
|
rs149365469
|
0.00053
|
|
NM_000252.3(MTM1):c.867+13A>C
|
rs368954714
|
0.00051
|
|
NM_001110556.2(FLNA):c.6907+14G>T
|
rs199934017
|
0.00051
|
|
NM_001375834.1(WIPF1):c.208G>A (p.Gly70Ser)
|
rs138276021
|
0.00051
|
|
NM_000240.4(MAOA):c.1375-17T>C
|
rs368285679
|
0.00050
|
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
|
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)
|
rs143165174
|
0.00050
|
|
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
|
rs376756703
|
0.00050
|
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
|
NM_001111125.3(IQSEC2):c.837C>T (p.Ser279=)
|
rs374638286
|
0.00049
|
|
NM_000033.4(ABCD1):c.601G>A (p.Val201Met)
|
rs139415350
|
0.00048
|
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
|
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg)
|
rs782161942
|
0.00047
|
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
|
NM_001375834.1(WIPF1):c.473G>A (p.Arg158Lys)
|
rs148175242
|
0.00047
|
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
|
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=)
|
rs372309740
|
0.00046
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000475.5(NR0B1):c.222A>G (p.Pro74=)
|
rs1337374469
|
0.00046
|
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
|
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)
|
rs202029322
|
0.00046
|
|
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=)
|
rs372265042
|
0.00046
|
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
|
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=)
|
rs146979083
|
0.00046
|
|
NM_006950.3(SYN1):c.1701A>T (p.Thr567=)
|
rs770195822
|
0.00046
|
|
NM_001082486.2(ACD):c.46C>A (p.Leu16Met)
|
rs200365807
|
0.00044
|
|
NM_001082486.2(ACD):c.645+17G>A
|
rs148412951
|
0.00044
|
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
|
NM_001399.5(EDA):c.1001G>A (p.Arg334His)
|
rs142948132
|
0.00042
|
|
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=)
|
rs144640614
|
0.00042
|
|
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=)
|
rs202125585
|
0.00041
|
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
|
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=)
|
rs372863999
|
0.00040
|
|
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile)
|
rs138771033
|
0.00040
|
|
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
|
rs377463848
|
0.00040
|
|
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser)
|
rs782384589
|
0.00040
|
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
|
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
0.00039
|
|
NM_001375834.1(WIPF1):c.645C>T (p.Pro215=)
|
rs141354164
|
0.00039
|
|
NM_005120.3(MED12):c.1695T>A (p.Ile565=)
|
rs138984044
|
0.00039
|
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
|
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=)
|
rs200330629
|
0.00039
|
|
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His)
|
rs141816797
|
0.00038
|
|
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=)
|
rs192122222
|
0.00038
|
|
NM_005120.3(MED12):c.5400+7G>A
|
rs201254124
|
0.00038
|
|
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=)
|
rs369241538
|
0.00038
|
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
|
NM_000033.4(ABCD1):c.945G>A (p.Ser315=)
|
rs145545199
|
0.00037
|
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
|
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)
|
rs144527582
|
0.00037
|
|
NM_001110556.2(FLNA):c.1761G>A (p.Glu587=)
|
rs377261686
|
0.00037
|
|
NM_001159699.2(FHL1):c.225C>A (p.Arg75=)
|
rs143791173
|
0.00037
|
|
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
|
NM_001082486.2(ACD):c.99+18G>A
|
rs369046068
|
0.00036
|
|
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=)
|
rs782651736
|
0.00036
|
|
NM_001167.4(XIAP):c.688G>A (p.Val230Ile)
|
rs144884904
|
0.00036
|
|
NM_005120.3(MED12):c.397-12A>T
|
rs192515277
|
0.00036
|
|
NM_001167.4(XIAP):c.978G>A (p.Gly326=)
|
rs376282989
|
0.00035
|
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
|
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser)
|
rs200053475
|
0.00035
|
|
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met)
|
rs190844812
|
0.00035
|
|
NM_005334.3(HCFC1):c.4943-11C>T
|
rs375388306
|
0.00035
|
|
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=)
|
rs77513704
|
0.00035
|
|
NM_000033.4(ABCD1):c.1047C>A (p.Val349=)
|
rs185931852
|
0.00034
|
|
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=)
|
rs145073701
|
0.00034
|
|
NM_000240.4(MAOA):c.1526C>T (p.Thr509Ile)
|
rs147298607
|
0.00034
|
|
NM_001167.4(XIAP):c.309G>A (p.Thr103=)
|
rs140230812
|
0.00034
|
|
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=)
|
rs200577062
|
0.00034
|
|
NM_005391.5(PDK3):c.750+5G>A
|
rs187646579
|
0.00034
|
|
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile)
|
rs151201945
|
0.00033
|
|
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
|
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=)
|
rs182074603
|
0.00033
|
|
NM_001111125.3(IQSEC2):c.3669G>A (p.Pro1223=)
|
rs782744933
|
0.00033
|
|
NM_001399.5(EDA):c.60A>C (p.Arg20=)
|
rs183801635
|
0.00033
|
|
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=)
|
rs201550267
|
0.00032
|
|
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly)
|
rs782598729
|
0.00032
|
|
NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp)
|
rs145037448
|
0.00032
|
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00032
|
|
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)
|
rs373524969
|
0.00031
|
|
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn)
|
rs142662151
|
0.00031
|
|
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr)
|
rs202104741
|
0.00031
|
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
|
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala)
|
rs782357394
|
0.00031
|
|
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)
|
rs373795773
|
0.00031
|
|
NM_002351.5(SH2D1A):c.346+3A>G
|
rs199706936
|
0.00031
|
|
NM_005120.3(MED12):c.4416-15T>C
|
rs770290521
|
0.00031
|
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
|
NM_005334.3(HCFC1):c.717C>G (p.Thr239=)
|
rs372516617
|
0.00031
|
|
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His)
|
rs143568469
|
0.00031
|
|
NM_001110556.2(FLNA):c.1328G>A (p.Arg443His)
|
rs782282149
|
0.00030
|
|
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=)
|
rs200787122
|
0.00030
|
|
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=)
|
rs375503410
|
0.00030
|
|
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp)
|
rs150911744
|
0.00030
|
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
|
NM_000252.3(MTM1):c.582C>T (p.Leu194=)
|
rs367912069
|
0.00029
|
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
|
NM_000489.6(ATRX):c.4957-20T>C
|
rs373789026
|
0.00029
|
|
NM_001110556.2(FLNA):c.2023-8C>T
|
rs587780335
|
0.00029
|
|
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser)
|
rs200053635
|
0.00029
|
|
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=)
|
rs201458268
|
0.00029
|
|
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=)
|
rs377467572
|
0.00029
|
|
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
|
rs373690520
|
0.00029
|
|
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr)
|
rs782134465
|
0.00028
|
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
|
NM_000377.3(WAS):c.1200G>A (p.Pro400=)
|
rs375356111
|
0.00028
|
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
|
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=)
|
rs781805662
|
0.00028
|
|
NM_001111125.3(IQSEC2):c.3870T>C (p.Leu1290=)
|
rs1057521625
|
0.00028
|
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
|
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=)
|
rs781955031
|
0.00028
|
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
|
NM_000240.4(MAOA):c.1441G>A (p.Val481Ile)
|
rs183147374
|
0.00027
|
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
|
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)
|
rs753915750
|
0.00027
|
|
NM_001375834.1(WIPF1):c.776C>T (p.Ala259Val)
|
rs139003789
|
0.00027
|
|
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met)
|
rs199798029
|
0.00027
|
|
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys)
|
rs139646537
|
0.00027
|
|
NM_000117.3(EMD):c.646G>A (p.Gly216Arg)
|
rs147920229
|
0.00026
|
|
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro)
|
rs145807475
|
0.00026
|
|
NM_001110556.2(FLNA):c.2656+18A>G
|
rs375154492
|
0.00026
|
|
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly)
|
rs782051125
|
0.00026
|
|
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=)
|
rs776150934
|
0.00026
|
|
NM_001399.5(EDA):c.464G>A (p.Arg155His)
|
rs144403117
|
0.00026
|
|
NM_005120.3(MED12):c.4528-19T>C
|
rs370859385
|
0.00026
|
|
NM_139058.3(ARX):c.1515A>G (p.Thr505=)
|
rs398124509
|
0.00026
|
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
|
NM_001111125.3(IQSEC2):c.2890-6G>A
|
rs184248834
|
0.00025
|
|
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu)
|
rs143490560
|
0.00025
|
|
NM_005120.3(MED12):c.736-14C>G
|
rs373707149
|
0.00025
|
|
NM_006950.3(SYN1):c.1063C>T (p.Leu355=)
|
rs191822319
|
0.00025
|
|
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu)
|
rs368606000
|
0.00024
|
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
|
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln)
|
rs145115086
|
0.00024
|
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
|
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu)
|
rs140889955
|
0.00024
|
|
NM_000033.4(ABCD1):c.249C>T (p.Phe83=)
|
rs782628755
|
0.00023
|
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
|
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)
|
rs137853319
|
0.00023
|
|
NM_001110556.2(FLNA):c.4970-18C>A
|
rs200639431
|
0.00023
|
|
NM_001110556.2(FLNA):c.5865C>T (p.Asp1955=)
|
rs782069439
|
0.00023
|
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
|
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys)
|
rs367592190
|
0.00023
|
|
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
|
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)
|
rs778734352
|
0.00023
|
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
|
NM_000240.4(MAOA):c.1559A>G (p.Lys520Arg)
|
rs1800466
|
0.00022
|
|
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg)
|
rs150430628
|
0.00022
|
|
NM_001110556.2(FLNA):c.1229-8C>T
|
rs376190976
|
0.00022
|
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
|
NM_001159699.2(FHL1):c.737-9T>C
|
rs914754937
|
0.00022
|
|
NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=)
|
rs375759744
|
0.00022
|
|
NM_006950.3(SYN1):c.1569G>A (p.Ala523=)
|
rs587781185
|
0.00022
|
|
NM_016032.4(ZDHHC9):c.978+15C>T
|
rs367975001
|
0.00022
|
|
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu)
|
rs28381069
|
0.00022
|
|
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=)
|
rs200815004
|
0.00022
|
|
NM_139058.3(ARX):c.336A>G (p.Ala112=)
|
rs794727308
|
0.00022
|
|
NM_000117.3(EMD):c.639T>C (p.Pro213=)
|
rs782196388
|
0.00021
|
|
NM_000377.3(WAS):c.1455C>T (p.Asp485=)
|
rs35359501
|
0.00021
|
|
NM_000489.6(ATRX):c.3987A>G (p.Glu1329=)
|
rs147160114
|
0.00021
|
|
NM_000489.6(ATRX):c.4395T>C (p.Asp1465=)
|
rs143785452
|
0.00021
|
|
NM_001110556.2(FLNA):c.5217+20A>T
|
rs782352444
|
0.00021
|
|
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=)
|
rs200471732
|
0.00021
|
|
NM_001375834.1(WIPF1):c.159C>T (p.Asp53=)
|
rs147372728
|
0.00021
|
|
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)
|
rs145808703
|
0.00021
|
|
NM_006950.3(SYN1):c.1055+12G>A
|
rs373071109
|
0.00021
|
|
NM_139058.3(ARX):c.554C>A (p.Pro185Gln)
|
rs925128416
|
0.00021
|
|
NM_139058.3(ARX):c.558G>T (p.Pro186=)
|
rs748764628
|
0.00021
|
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
|
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)
|
rs139983160
|
0.00020
|
|
NM_000240.4(MAOA):c.1437+14C>T
|
rs372158657
|
0.00020
|
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
|
NM_000489.6(ATRX):c.1467C>T (p.Thr489=)
|
rs199929884
|
0.00020
|
|
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln)
|
rs143413618
|
0.00020
|
|
NM_001110556.2(FLNA):c.732C>T (p.Pro244=)
|
rs371092631
|
0.00020
|
|
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser)
|
rs150317928
|
0.00020
|
|
NM_001353921.2(ARHGEF9):c.946-4C>A
|
rs56398019
|
0.00020
|
|
NM_001375834.1(WIPF1):c.243C>T (p.Gly81=)
|
rs146533814
|
0.00020
|
|
NM_005120.3(MED12):c.2055+19G>A
|
rs373450304
|
0.00020
|
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
0.00020
|
|
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=)
|
rs200345511
|
0.00020
|
|
NM_006950.3(SYN1):c.939C>T (p.Asp313=)
|
rs373928763
|
0.00020
|
|
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro)
|
rs140411676
|
0.00020
|
|
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=)
|
rs150878397
|
0.00019
|
|
NM_000117.3(EMD):c.445G>C (p.Asp149His)
|
rs2070818
|
0.00019
|
|
NM_000240.4(MAOA):c.1438-3T>C
|
rs202232897
|
0.00019
|
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
|
NM_001082486.2(ACD):c.1152G>A (p.Pro384=)
|
rs147116458
|
0.00019
|
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
0.00019
|
|
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=)
|
rs797045630
|
0.00019
|
|
NM_001375834.1(WIPF1):c.798A>G (p.Pro266=)
|
rs150911269
|
0.00019
|
|
NM_005120.3(MED12):c.4665G>A (p.Thr1555=)
|
rs375001801
|
0.00019
|
|
NM_005120.3(MED12):c.708C>T (p.Thr236=)
|
rs34668206
|
0.00019
|
|
NM_005334.3(HCFC1):c.4942+11G>A
|
rs782730900
|
0.00019
|
|
NM_005334.3(HCFC1):c.905-3C>T
|
rs200367055
|
0.00019
|
|
NM_006950.3(SYN1):c.999G>T (p.Gly333=)
|
rs752926074
|
0.00019
|
|
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe)
|
rs202133913
|
0.00019
|
|
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)
|
rs200862250
|
0.00019
|
|
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=)
|
rs138233092
|
0.00018
|
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
|
NM_000489.6(ATRX):c.4215-5G>A
|
rs111833322
|
0.00018
|
|
NM_001110556.2(FLNA):c.2103C>T (p.His701=)
|
rs200227077
|
0.00018
|
|
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)
|
rs201656372
|
0.00018
|
|
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala)
|
rs782804253
|
0.00018
|
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
|
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu)
|
rs373037983
|
0.00018
|
|
NM_001110556.2(FLNA):c.958G>A (p.Val320Met)
|
rs781889196
|
0.00018
|
|
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)
|
rs752366165
|
0.00018
|
|
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=)
|
rs372006606
|
0.00018
|
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
|
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val)
|
rs141815718
|
0.00018
|
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
|
NM_005765.3(ATP6AP2):c.463C>T (p.Arg155Cys)
|
rs146371390
|
0.00018
|
|
NM_006950.3(SYN1):c.1968G>A (p.Pro656=)
|
rs199844514
|
0.00018
|
|
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp)
|
rs141081316
|
0.00018
|
|
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln)
|
rs146482651
|
0.00018
|
|
NM_000252.3(MTM1):c.867+17A>G
|
rs371239013
|
0.00017
|
|
NM_001110556.2(FLNA):c.5559A>C (p.Gly1853=)
|
rs372028899
|
0.00017
|
|
NM_001110556.2(FLNA):c.5973G>A (p.Ser1991=)
|
rs375252292
|
0.00017
|
|
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=)
|
rs147706810
|
0.00017
|
|
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile)
|
rs139402062
|
0.00017
|
|
NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=)
|
rs138920689
|
0.00017
|
|
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=)
|
rs766164918
|
0.00017
|
|
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val)
|
rs200820997
|
0.00017
|
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
|
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala)
|
rs201714172
|
0.00017
|
|
NM_006950.3(SYN1):c.1369G>C (p.Ala457Pro)
|
rs748323076
|
0.00017
|
|
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met)
|
rs769393520
|
0.00017
|
|
NM_139058.3(ARX):c.663C>T (p.Thr221=)
|
rs1006404746
|
0.00017
|
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
|
NM_000074.3(CD40LG):c.708G>A (p.Ser236=)
|
rs146620753
|
0.00016
|
|
NM_000240.4(MAOA):c.1248G>A (p.Met416Ile)
|
rs772161607
|
0.00016
|
|
NM_001082486.2(ACD):c.837G>A (p.Pro279=)
|
rs201965477
|
0.00016
|
|
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His)
|
rs369668866
|
0.00016
|
|
NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His)
|
rs782193125
|
0.00016
|
|
NM_001167.4(XIAP):c.1242A>G (p.Leu414=)
|
rs147262472
|
0.00016
|
|
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=)
|
rs749602848
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.579G>A (p.Glu193=)
|
rs56182751
|
0.00016
|
|
NM_001353921.2(ARHGEF9):c.885G>A (p.Lys295=)
|
rs199625034
|
0.00016
|
|
NM_001375834.1(WIPF1):c.1164C>T (p.Asn388=)
|
rs41270199
|
0.00016
|
|
NM_001399.5(EDA):c.833C>G (p.Thr278Ser)
|
rs375753764
|
0.00016
|
|
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp)
|
rs375418085
|
0.00016
|
|
NM_000033.4(ABCD1):c.901-5C>T
|
rs782603062
|
0.00015
|
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
|
NM_001015877.2(PHF6):c.241-13C>T
|
rs375674521
|
0.00015
|
|
NM_001082486.2(ACD):c.846C>T (p.Pro282=)
|
rs199856965
|
0.00015
|
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
|
NM_001110556.2(FLNA):c.2826+9A>G
|
rs782468457
|
0.00015
|
|
NM_001110556.2(FLNA):c.6998G>A (p.Arg2333His)
|
rs377274096
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1471G>A (p.Asp491Asn)
|
rs782577519
|
0.00015
|
|
NM_001353921.2(ARHGEF9):c.1488G>A (p.Ser496=)
|
rs782580975
|
0.00015
|
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
|
NM_005120.3(MED12):c.554-16T>A
|
rs760845015
|
0.00015
|
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
|
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=)
|
rs370379881
|
0.00015
|
|
NM_005391.5(PDK3):c.304C>T (p.Pro102Ser)
|
rs375475050
|
0.00015
|
|
NM_139058.3(ARX):c.1119+6C>T
|
rs201300786
|
0.00015
|
|
NM_139058.3(ARX):c.148T>C (p.Leu50=)
|
rs370342380
|
0.00015
|
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
|
NM_000033.4(ABCD1):c.420C>A (p.Ile140=)
|
rs74315279
|
0.00014
|
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
|
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile)
|
rs199914973
|
0.00014
|
|
NM_000117.3(EMD):c.432A>G (p.Glu144=)
|
rs377125466
|
0.00014
|
|
NM_000117.3(EMD):c.537G>A (p.Leu179=)
|
rs368661339
|
0.00014
|
|
NM_000252.3(MTM1):c.423G>A (p.Ala141=)
|
rs377311110
|
0.00014
|
|
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala)
|
rs200436490
|
0.00014
|
|
NM_001082486.2(ACD):c.1334T>C (p.Phe445Ser)
|
rs150078051
|
0.00014
|
|
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=)
|
rs374672498
|
0.00014
|
|
NM_001110556.2(FLNA):c.2813C>T (p.Thr938Met)
|
rs782180774
|
0.00014
|
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
|
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=)
|
rs200857989
|
0.00014
|
|
NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=)
|
rs375163471
|
0.00014
|
|
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn)
|
rs190415098
|
0.00014
|
|
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn)
|
rs782555930
|
0.00014
|
|
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=)
|
rs782748026
|
0.00014
|
|
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=)
|
rs782769823
|
0.00014
|
|
NM_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
|
rs376406896
|
0.00014
|
|
NM_001375834.1(WIPF1):c.601C>T (p.Arg201Trp)
|
rs770426754
|
0.00014
|
|
NM_001399.5(EDA):c.435A>G (p.Pro145=)
|
rs146844463
|
0.00014
|
|
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
0.00014
|
|
NM_005334.3(HCFC1):c.6069-5C>T
|
rs782321258
|
0.00014
|
|
NM_006950.3(SYN1):c.980+20C>A
|
rs777705880
|
0.00014
|
|
NM_016032.4(ZDHHC9):c.328+17G>T
|
rs368495079
|
0.00014
|
|
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=)
|
rs183344879
|
0.00014
|
|
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=)
|
rs373442692
|
0.00013
|
|
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln)
|
rs781793261
|
0.00013
|
|
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp)
|
rs781932570
|
0.00013
|
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
|
NM_000489.6(ATRX):c.6036G>A (p.Glu2012=)
|
rs376679217
|
0.00013
|
|
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)
|
rs185389157
|
0.00013
|
|
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu)
|
rs149051014
|
0.00013
|
|
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile)
|
rs199911951
|
0.00013
|
|
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=)
|
rs373625856
|
0.00013
|
|
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
|
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln)
|
rs781204574
|
0.00013
|
|
NM_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg)
|
rs201989363
|
0.00013
|
|
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
|
rs766355858
|
0.00013
|
|
NM_001375834.1(WIPF1):c.717C>T (p.Pro239=)
|
rs573445151
|
0.00013
|
|
NM_001375834.1(WIPF1):c.987C>T (p.Asp329=)
|
rs201234000
|
0.00013
|
|
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)
|
rs149016283
|
0.00013
|
|
NM_005120.3(MED12):c.1101+18C>T
|
rs200510424
|
0.00013
|
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
|
NM_005334.3(HCFC1):c.1119A>G (p.Val373=)
|
rs782547175
|
0.00013
|
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
|
NM_005334.3(HCFC1):c.6005-18C>G
|
rs781820710
|
0.00013
|
|
NM_005391.5(PDK3):c.36G>A (p.Val12=)
|
rs747337773
|
0.00013
|
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
|
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His)
|
rs181034787
|
0.00013
|
|
NM_080632.3(UPF3B):c.1118G>A (p.Arg373His)
|
rs146785878
|
0.00013
|
|
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp)
|
rs368061976
|
0.00012
|
|
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=)
|
rs782093609
|
0.00012
|
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
|
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val)
|
rs368003929
|
0.00012
|
|
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys)
|
rs770842444
|
0.00012
|
|
NM_000475.5(NR0B1):c.96G>C (p.Thr32=)
|
rs752999448
|
0.00012
|
|
NM_000489.6(ATRX):c.4317+13T>C
|
rs201710363
|
0.00012
|
|
NM_000489.6(ATRX):c.546A>G (p.Gln182=)
|
rs375794120
|
0.00012
|
|
NM_000489.6(ATRX):c.662+11T>C
|
rs375372323
|
0.00012
|
|
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser)
|
rs781853125
|
0.00012
|
|
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile)
|
rs373286506
|
0.00012
|
|
NM_001110556.2(FLNA):c.3939C>T (p.Gly1313=)
|
rs374178910
|
0.00012
|
|
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=)
|
rs367674709
|
0.00012
|
|
NM_001110556.2(FLNA):c.5787G>A (p.Pro1929=)
|
rs376974488
|
0.00012
|
|
NM_001110556.2(FLNA):c.7305C>T (p.Tyr2435=)
|
rs782750091
|
0.00012
|
|
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=)
|
rs782760727
|
0.00012
|
|
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)
|
rs777303823
|
0.00012
|
|
NM_001184880.2(PCDH19):c.1330A>G (p.Thr444Ala)
|
rs201671718
|
0.00012
|
|
NM_001184880.2(PCDH19):c.2191G>A (p.Gly731Arg)
|
rs747124369
|
0.00012
|
|
NM_001184880.2(PCDH19):c.3012T>C (p.Ala1004=)
|
rs181719144
|
0.00012
|
|
NM_001399.5(EDA):c.390G>T (p.Gly130=)
|
rs143746851
|
0.00012
|
|
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)
|
rs372389957
|
0.00012
|
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
|
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met)
|
rs199611189
|
0.00012
|
|
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=)
|
rs370113081
|
0.00012
|
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
|
NM_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)
|
rs765852654
|
0.00012
|
|
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser)
|
rs765045862
|
0.00012
|
|
NM_139058.3(ARX):c.1599C>G (p.Ala533=)
|
rs1057523196
|
0.00012
|
|
NM_139058.3(ARX):c.708T>C (p.Asp236=)
|
rs763458576
|
0.00012
|
|
NM_000033.4(ABCD1):c.50G>A (p.Arg17His)
|
rs782693577
|
0.00011
|
|
NM_000052.7(ATP7A):c.3659-12C>T
|
rs1012193744
|
0.00011
|
|
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr)
|
rs147340102
|
0.00011
|
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
|
NM_000240.4(MAOA):c.412-6C>G
|
rs369122751
|
0.00011
|
|
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=)
|
rs587783806
|
0.00011
|
|
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr)
|
rs782217375
|
0.00011
|
|
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)
|
rs374283590
|
0.00011
|
|
NM_000377.3(WAS):c.266G>A (p.Gly89Asp)
|
rs139857045
|
0.00011
|
|
NM_000377.3(WAS):c.593C>T (p.Ala198Val)
|
rs200261212
|
0.00011
|
|
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)
|
rs761749382
|
0.00011
|
|
NM_000489.6(ATRX):c.1032C>T (p.Ser344=)
|
rs143491422
|
0.00011
|
|
NM_000489.6(ATRX):c.2968G>A (p.Glu990Lys)
|
rs376883807
|
0.00011
|
|
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser)
|
rs368498507
|
0.00011
|
|
NM_000489.6(ATRX):c.820T>C (p.Leu274=)
|
rs146012355
|
0.00011
|
|
NM_001079872.2(CUL4B):c.319C>G (p.Leu107Val)
|
rs760294805
|
0.00011
|
|
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met)
|
rs782549299
|
0.00011
|
|
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln)
|
rs782320818
|
0.00011
|
|
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=)
|
rs782437864
|
0.00011
|
|
NM_001110556.2(FLNA):c.1771G>A (p.Val591Ile)
|
rs200673062
|
0.00011
|
|
NM_001110556.2(FLNA):c.1828+3A>G
|
rs368041880
|
0.00011
|
|
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met)
|
rs371366175
|
0.00011
|
|
NM_001110556.2(FLNA):c.622+10C>T
|
rs781889769
|
0.00011
|
|
NM_001110556.2(FLNA):c.6984G>A (p.Pro2328=)
|
rs374786760
|
0.00011
|
|
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=)
|
rs201153928
|
0.00011
|
|
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)
|
rs368746337
|
0.00011
|
|
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=)
|
rs140023181
|
0.00011
|
|
NM_001111125.3(IQSEC2):c.3116-19G>A
|
rs782264682
|
0.00011
|
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
|
NM_001167.4(XIAP):c.1056+19A>T
|
rs769758486
|
0.00011
|
|
NM_001184880.2(PCDH19):c.1107C>T (p.Ala369=)
|
rs199879056
|
0.00011
|
|
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His)
|
rs201611496
|
0.00011
|
|
NM_001353921.2(ARHGEF9):c.946-16C>T
|
rs781867369
|
0.00011
|
|
NM_001375834.1(WIPF1):c.1084A>G (p.Ser362Gly)
|
rs147847123
|
0.00011
|
|
NM_001375834.1(WIPF1):c.694G>A (p.Gly232Arg)
|
rs376855242
|
0.00011
|
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
|
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=)
|
rs372900932
|
0.00011
|
|
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)
|
rs142013283
|
0.00011
|
|
NM_005765.3(ATP6AP2):c.539A>G (p.Asp180Gly)
|
rs748977074
|
0.00011
|
|
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)
|
rs372445055
|
0.00011
|
|
NM_031206.7(LAS1L):c.1002C>T (p.Pro334=)
|
rs146920304
|
0.00011
|
|
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His)
|
rs140032597
|
0.00011
|
|
NM_000033.4(ABCD1):c.108G>A (p.Val36=)
|
rs368718078
|
0.00010
|
|
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=)
|
rs782742220
|
0.00010
|
|
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser)
|
rs376472029
|
0.00010
|
|
NM_000033.4(ABCD1):c.54G>A (p.Thr18=)
|
rs781855598
|
0.00010
|
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
|
NM_000074.3(CD40LG):c.114G>A (p.Gly38=)
|
rs767319189
|
0.00010
|
|
NM_000074.3(CD40LG):c.30C>G (p.Pro10=)
|
rs375387574
|
0.00010
|
|
NM_000074.3(CD40LG):c.600A>G (p.Arg200=)
|
rs374246579
|
0.00010
|
|
NM_000240.4(MAOA):c.1262+6A>G
|
rs765738971
|
0.00010
|
|
NM_000240.4(MAOA):c.805G>A (p.Val269Ile)
|
rs150176511
|
0.00010
|
|
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln)
|
rs782072494
|
0.00010
|
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
|
NM_000377.3(WAS):c.903G>C (p.Glu301Asp)
|
rs781898144
|
0.00010
|
|
NM_000489.6(ATRX):c.1256C>T (p.Ala419Val)
|
rs374958282
|
0.00010
|
|
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His)
|
rs782386546
|
0.00010
|
|
NM_000489.6(ATRX):c.4214+6A>G
|
rs782562759
|
0.00010
|
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
|
NM_000489.6(ATRX):c.831C>T (p.Val277=)
|
rs142561199
|
0.00010
|
|
NM_001015877.2(PHF6):c.414C>T (p.Ser138=)
|
rs200423380
|
0.00010
|
|
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln)
|
rs200293827
|
0.00010
|
|
NM_001110556.2(FLNA):c.1032C>A (p.Val344=)
|
rs886039070
|
0.00010
|
|
NM_001110556.2(FLNA):c.1376C>T (p.Thr459Met)
|
rs375463904
|
0.00010
|
|
NM_001110556.2(FLNA):c.2027A>G (p.Lys676Arg)
|
rs781798819
|
0.00010
|
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
|
NM_001110556.2(FLNA):c.4824C>T (p.Tyr1608=)
|
rs781789823
|
0.00010
|
|
NM_001110556.2(FLNA):c.4857C>T (p.Leu1619=)
|
rs368536975
|
0.00010
|
|
NM_001110556.2(FLNA):c.6227-7C>T
|
rs370491691
|
0.00010
|
|
NM_001110556.2(FLNA):c.6307A>G (p.Arg2103Gly)
|
rs370277156
|
0.00010
|
|
NM_001110556.2(FLNA):c.6612C>T (p.Pro2204=)
|
rs375499070
|
0.00010
|
|
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=)
|
rs376461465
|
0.00010
|
|
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His)
|
rs781881872
|
0.00010
|
|
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=)
|
rs782129907
|
0.00010
|
|
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=)
|
rs369179210
|
0.00010
|
|
NM_001110556.2(FLNA):c.7365C>G (p.Ser2455Arg)
|
rs199677057
|
0.00010
|
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.1648C>G (p.Pro550Ala)
|
rs782469479
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.4317C>T (p.Pro1439=)
|
rs1216934275
|
0.00010
|
|
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu)
|
rs782439813
|
0.00010
|
|
NM_001159699.2(FHL1):c.380-7T>C
|
rs759571993
|
0.00010
|
|
NM_001159699.2(FHL1):c.737-11_737-8del
|
rs754404850
|
0.00010
|
|
NM_001167.4(XIAP):c.1230G>A (p.Leu410=)
|
rs761489362
|
0.00010
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
0.00010
|
|
NM_001375834.1(WIPF1):c.30G>A (p.Pro10=)
|
rs745425874
|
0.00010
|
|
NM_005120.3(MED12):c.321A>C (p.Ala107=)
|
rs748627661
|
0.00010
|
|
NM_005120.3(MED12):c.3357C>T (p.Val1119=)
|
rs773679943
|
0.00010
|
|
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)
|
rs369268877
|
0.00010
|
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
|
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala)
|
rs372326268
|
0.00010
|
|
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)
|
rs375793297
|
0.00010
|
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
|
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile)
|
rs782727601
|
0.00010
|
|
NM_005391.5(PDK3):c.282T>C (p.Tyr94=)
|
rs201198782
|
0.00010
|
|
NM_005391.5(PDK3):c.674-11T>C
|
rs756028485
|
0.00010
|
|
NM_006950.3(SYN1):c.1158+17G>T
|
rs769125543
|
0.00010
|
|
NM_006950.3(SYN1):c.526C>T (p.Arg176Trp)
|
rs769458536
|
0.00010
|
|
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=)
|
rs146317883
|
0.00010
|
|
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val)
|
rs142747676
|
0.00010
|
|
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys)
|
rs368157267
|
0.00010
|
|
NM_031206.7(LAS1L):c.1705A>G (p.Lys569Glu)
|
rs1006077682
|
0.00010
|
|
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=)
|
rs777574933
|
0.00010
|
|
NM_139058.3(ARX):c.1104C>T (p.Thr368=)
|
rs771822246
|
0.00010
|
|
NM_139058.3(ARX):c.1488C>T (p.Thr496=)
|
rs773666007
|
0.00010
|
|
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)
|
rs192525493
|
0.00009
|
|
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=)
|
rs782026057
|
0.00009
|
|
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=)
|
rs781935761
|
0.00009
|
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
|
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser)
|
rs769728462
|
0.00009
|
|
NM_000117.3(EMD):c.188-18C>G
|
rs376439797
|
0.00009
|
|
NM_000117.3(EMD):c.450-12C>T
|
rs1185461600
|
0.00009
|
|
NM_000117.3(EMD):c.470G>A (p.Arg157Gln)
|
rs148515772
|
0.00009
|
|
NM_000377.3(WAS):c.351C>T (p.Phe117=)
|
rs143299151
|
0.00009
|
|
NM_000377.3(WAS):c.696G>A (p.Lys232=)
|
rs368379103
|
0.00009
|
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
|
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)
|
rs781865069
|
0.00009
|
|
NM_000489.6(ATRX):c.189+7A>G
|
rs781842591
|
0.00009
|
|
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln)
|
rs781811015
|
0.00009
|
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
|
NM_000489.6(ATRX):c.3559A>G (p.Asn1187Asp)
|
rs782146598
|
0.00009
|
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
|
NM_000489.6(ATRX):c.798C>T (p.Tyr266=)
|
rs376341197
|
0.00009
|
|
NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)
|
rs370512338
|
0.00009
|
|
NM_001110556.2(FLNA):c.1066-4A>G
|
rs782474134
|
0.00009
|
|
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln)
|
rs371707134
|
0.00009
|
|
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=)
|
rs376972653
|
0.00009
|
|
NM_001110556.2(FLNA):c.2405-16C>T
|
rs371590031
|
0.00009
|
|
NM_001110556.2(FLNA):c.2609A>G (p.His870Arg)
|
rs200679107
|
0.00009
|
|
NM_001110556.2(FLNA):c.3429C>A (p.Thr1143=)
|
rs183899917
|
0.00009
|
|
NM_001110556.2(FLNA):c.3612G>A (p.Pro1204=)
|
rs782273962
|
0.00009
|
|
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys)
|
rs369768801
|
0.00009
|
|
NM_001110556.2(FLNA):c.4143-20C>T
|
rs782633956
|
0.00009
|
|
NM_001110556.2(FLNA):c.423C>T (p.Ile141=)
|
rs782198156
|
0.00009
|
|
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=)
|
rs191786597
|
0.00009
|
|
NM_001110556.2(FLNA):c.4756-15G>A
|
rs782281668
|
0.00009
|
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
|
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=)
|
rs182894587
|
0.00009
|
|
NM_001110556.2(FLNA):c.7023+10C>T
|
rs782777494
|
0.00009
|
|
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg)
|
rs781823700
|
0.00009
|
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
|
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=)
|
rs200694807
|
0.00009
|
|
NM_001110556.2(FLNA):c.7756+19C>T
|
rs781867343
|
0.00009
|
|
NM_001110556.2(FLNA):c.7756+20G>A
|
rs782395246
|
0.00009
|
|
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=)
|
rs782536136
|
0.00009
|
|
NM_001111125.3(IQSEC2):c.4311T>C (p.Tyr1437=)
|
rs1556858993
|
0.00009
|
|
NM_001111125.3(IQSEC2):c.4419C>A (p.Pro1473=)
|
rs1354953265
|
0.00009
|
|
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser)
|
rs761300463
|
0.00009
|
|
NM_001167.4(XIAP):c.499T>C (p.Leu167=)
|
rs374298061
|
0.00009
|
|
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu)
|
rs200126728
|
0.00009
|
|
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His)
|
rs756818874
|
0.00009
|
|
NM_001184880.2(PCDH19):c.3262G>A (p.Ala1088Thr)
|
rs370078729
|
0.00009
|
|
NM_001184880.2(PCDH19):c.3437T>C (p.Ile1146Thr)
|
rs186554435
|
0.00009
|
|
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala)
|
rs727504067
|
0.00009
|
|
NM_001184880.2(PCDH19):c.594C>G (p.Arg198=)
|
rs370348930
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1060A>C (p.Met354Leu)
|
rs782248986
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1386A>G (p.Gln462=)
|
rs782354481
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=)
|
rs145815177
|
0.00009
|
|
NM_001353921.2(ARHGEF9):c.31-29583C>A
|
rs370045250
|
0.00009
|
|
NM_001375834.1(WIPF1):c.1129+10G>A
|
rs887452483
|
0.00009
|
|
NM_001375834.1(WIPF1):c.122G>A (p.Ser41Asn)
|
rs141730361
|
0.00009
|
|
NM_001375834.1(WIPF1):c.843G>A (p.Ala281=)
|
rs369696922
|
0.00009
|
|
NM_001375834.1(WIPF1):c.857C>T (p.Pro286Leu)
|
rs779235427
|
0.00009
|
|
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)
|
rs199639961
|
0.00009
|
|
NM_002351.5(SH2D1A):c.138-19G>A
|
rs370365609
|
0.00009
|
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
|
NM_005120.3(MED12):c.2721G>A (p.Leu907=)
|
rs757010467
|
0.00009
|
|
NM_005120.3(MED12):c.3692-11G>A
|
rs773008879
|
0.00009
|
|
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)
|
rs202009066
|
0.00009
|
|
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)
|
rs762801267
|
0.00009
|
|
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
|
rs201843482
|
0.00009
|
|
NM_005120.3(MED12):c.966T>C (p.Ala322=)
|
rs370616416
|
0.00009
|
|
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
|
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=)
|
rs375755315
|
0.00009
|
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
|
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys)
|
rs199554411
|
0.00009
|
|
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
|
rs376294666
|
0.00009
|
|
NM_005391.5(PDK3):c.336G>C (p.Leu112=)
|
rs372442017
|
0.00009
|
|
NM_005391.5(PDK3):c.341A>C (p.Lys114Thr)
|
rs146331370
|
0.00009
|
|
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn)
|
rs1165981822
|
0.00009
|
|
NM_005391.5(PDK3):c.751-10A>G
|
rs372774822
|
0.00009
|
|
NM_005765.3(ATP6AP2):c.398G>A (p.Arg133Lys)
|
rs560852897
|
0.00009
|
|
NM_005765.3(ATP6AP2):c.534+7G>A
|
rs369876508
|
0.00009
|
|
NM_005765.3(ATP6AP2):c.922A>C (p.Asn308His)
|
rs756836341
|
0.00009
|
|
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=)
|
rs145877196
|
0.00009
|
|
NM_016032.4(ZDHHC9):c.674+9C>T
|
rs376385410
|
0.00009
|
|
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn)
|
rs200392246
|
0.00009
|
|
NM_080632.3(UPF3B):c.1302+8T>C
|
rs776786838
|
0.00009
|
|
NM_080632.3(UPF3B):c.470-19T>C
|
rs779967826
|
0.00009
|
|
NM_139058.3(ARX):c.821T>C (p.Val274Ala)
|
rs375289776
|
0.00009
|
|
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=)
|
rs139343560
|
0.00008
|
|
NM_000033.4(ABCD1):c.1781-5C>G
|
rs781920026
|
0.00008
|
|
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg)
|
rs201979180
|
0.00008
|
|
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln)
|
rs781874815
|
0.00008
|
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
|
NM_000052.7(ATP7A):c.1947-3A>G
|
rs782237008
|
0.00008
|
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
|
NM_000074.3(CD40LG):c.594C>T (p.Pro198=)
|
rs370353192
|
0.00008
|
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
|
NM_000475.5(NR0B1):c.207C>T (p.Cys69=)
|
rs1274628114
|
0.00008
|
|
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)
|
rs375129029
|
0.00008
|
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
|
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala)
|
rs142601264
|
0.00008
|
|
NM_000489.6(ATRX):c.4810-3T>C
|
rs370596323
|
0.00008
|
|
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=)
|
rs782633224
|
0.00008
|
|
NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)
|
rs200478641
|
0.00008
|
|
NM_001015877.2(PHF6):c.714C>T (p.Ala238=)
|
rs761180935
|
0.00008
|
|
NM_001082486.2(ACD):c.-24C>T
|
rs770445581
|
0.00008
|
|
NM_001082486.2(ACD):c.493+7T>C
|
rs199626332
|
0.00008
|
|
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser)
|
rs775607009
|
0.00008
|
|
NM_001082486.2(ACD):c.962C>T (p.Ser321Leu)
|
rs374925782
|
0.00008
|
|
NM_001110556.2(FLNA):c.1430-13C>G
|
rs781823040
|
0.00008
|
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
|
NM_001110556.2(FLNA):c.2183A>G (p.Asn728Ser)
|
rs375038091
|
0.00008
|
|
NM_001110556.2(FLNA):c.2280+14C>T
|
rs373622616
|
0.00008
|
|
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=)
|
rs782741007
|
0.00008
|
|
NM_001110556.2(FLNA):c.2323T>C (p.Tyr775His)
|
rs371839875
|
0.00008
|
|
NM_001110556.2(FLNA):c.2571G>A (p.Thr857=)
|
rs1208353421
|
0.00008
|
|
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr)
|
rs185503240
|
0.00008
|
|
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=)
|
rs368009936
|
0.00008
|
|
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile)
|
rs782265007
|
0.00008
|
|
NM_001110556.2(FLNA):c.3980-20C>G
|
rs782074460
|
0.00008
|
|
NM_001110556.2(FLNA):c.4304-25_4304-17del
|
rs782740969
|
0.00008
|
|
NM_001110556.2(FLNA):c.5218-9G>T
|
rs782801210
|
0.00008
|
|
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu)
|
rs377576796
|
0.00008
|
|
NM_001110556.2(FLNA):c.5911A>T (p.Ile1971Phe)
|
rs190712778
|
0.00008
|
|
NM_001110556.2(FLNA):c.5978G>A (p.Arg1993Gln)
|
rs782401919
|
0.00008
|
|
NM_001110556.2(FLNA):c.7333+12G>A
|
rs782082864
|
0.00008
|
|
NM_001110556.2(FLNA):c.988-6C>T
|
rs781835707
|
0.00008
|
|
NM_001111125.3(IQSEC2):c.2297+4C>T
|
rs781794155
|
0.00008
|
|
NM_001167.4(XIAP):c.1096A>G (p.Ile366Val)
|
rs766720607
|
0.00008
|
|
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln)
|
rs770122195
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1059T>C (p.Ser353=)
|
rs1178813036
|
0.00008
|
|
NM_001184880.2(PCDH19):c.1602G>A (p.Leu534=)
|
rs370939779
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu)
|
rs371605184
|
0.00008
|
|
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=)
|
rs150129110
|
0.00008
|
|
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)
|
rs397516663
|
0.00008
|
|
NM_001399.5(EDA):c.741+9G>A
|
rs751258727
|
0.00008
|
|
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu)
|
rs764107388
|
0.00008
|
|
NM_005120.3(MED12):c.1349-11T>C
|
rs775255445
|
0.00008
|
|
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)
|
rs747413033
|
0.00008
|
|
NM_005120.3(MED12):c.27C>T (p.Tyr9=)
|
rs376743527
|
0.00008
|
|
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)
|
rs370211858
|
0.00008
|
|
NM_005120.3(MED12):c.4851G>A (p.Ala1617=)
|
rs377210068
|
0.00008
|
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
|
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=)
|
rs782684668
|
0.00008
|
|
NM_005765.3(ATP6AP2):c.397-13A>G
|
rs369015249
|
0.00008
|
|
NM_006950.3(SYN1):c.987G>A (p.Thr329=)
|
rs371126022
|
0.00008
|
|
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys)
|
rs185917523
|
0.00008
|
|
NM_016032.4(ZDHHC9):c.168-18A>G
|
rs753763200
|
0.00008
|
|
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp)
|
rs777030988
|
0.00008
|
|
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=)
|
rs199507509
|
0.00008
|
|
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn)
|
rs370614998
|
0.00008
|
|
NM_031206.7(LAS1L):c.99G>C (p.Ser33=)
|
rs779407196
|
0.00008
|
|
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)
|
rs775715153
|
0.00008
|
|
NM_139058.3(ARX):c.1269C>T (p.His423=)
|
rs794727656
|
0.00008
|
|
NM_139058.3(ARX):c.303A>G (p.Ala101=)
|
rs797045295
|
0.00008
|
|
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=)
|
rs781928741
|
0.00007
|
|
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
|
NM_000033.4(ABCD1):c.1865+16C>T
|
rs782719238
|
0.00007
|
|
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=)
|
rs199723613
|
0.00007
|
|
NM_000033.4(ABCD1):c.483G>T (p.Ser161=)
|
rs369052808
|
0.00007
|
|
NM_000033.4(ABCD1):c.504C>G (p.Ala168=)
|
rs782453684
|
0.00007
|
|
NM_000033.4(ABCD1):c.870G>A (p.Ser290=)
|
rs782563177
|
0.00007
|
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
|
NM_000074.3(CD40LG):c.369G>A (p.Ala123=)
|
rs148581967
|
0.00007
|
|
NM_000117.3(EMD):c.12C>T (p.Tyr4=)
|
rs782011714
|
0.00007
|
|
NM_000117.3(EMD):c.400-14A>G
|
rs781916367
|
0.00007
|
|
NM_000117.3(EMD):c.400-9C>T
|
rs782061626
|
0.00007
|
|
NM_000252.3(MTM1):c.422C>T (p.Ala141Val)
|
rs140642341
|
0.00007
|
|
NM_000489.6(ATRX):c.1168C>T (p.Arg390Cys)
|
rs150484080
|
0.00007
|
|
NM_000489.6(ATRX):c.1245C>T (p.Ser415=)
|
rs141815992
|
0.00007
|
|
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg)
|
rs782598442
|
0.00007
|
|
NM_000489.6(ATRX):c.253A>G (p.Ile85Val)
|
rs150801485
|
0.00007
|
|
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu)
|
rs149232501
|
0.00007
|
|
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn)
|
rs151273832
|
0.00007
|
|
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln)
|
rs782708557
|
0.00007
|
|
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly)
|
rs782553301
|
0.00007
|
|
NM_001015877.2(PHF6):c.487C>T (p.Arg163Cys)
|
rs199945885
|
0.00007
|
|
NM_001110556.2(FLNA):c.1134G>A (p.Gln378=)
|
rs1353724279
|
0.00007
|
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
|
NM_001110556.2(FLNA):c.2023-4C>G
|
rs368719012
|
0.00007
|
|
NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln)
|
rs201451383
|
0.00007
|
|
NM_001110556.2(FLNA):c.2657-19G>A
|
rs782352062
|
0.00007
|
|
NM_001110556.2(FLNA):c.2744C>A (p.Thr915Asn)
|
rs782045915
|
0.00007
|
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
|
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=)
|
rs1324902589
|
0.00007
|
|
NM_001110556.2(FLNA):c.4482G>A (p.Val1494=)
|
rs782154368
|
0.00007
|
|
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu)
|
rs782649462
|
0.00007
|
|
NM_001110556.2(FLNA):c.4945+12C>T
|
rs370899661
|
0.00007
|
|
NM_001110556.2(FLNA):c.5190C>T (p.His1730=)
|
rs781793192
|
0.00007
|
|
NM_001110556.2(FLNA):c.6227-10C>T
|
rs782748718
|
0.00007
|
|
NM_001110556.2(FLNA):c.6246G>A (p.Leu2082=)
|
rs926782014
|
0.00007
|
|
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=)
|
rs782053982
|
0.00007
|
|
NM_001110556.2(FLNA):c.675G>A (p.Ala225=)
|
rs375532074
|
0.00007
|
|
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His)
|
rs727503930
|
0.00007
|
|
NM_001110556.2(FLNA):c.7205T>C (p.Ile2402Thr)
|
rs202152952
|
0.00007
|
|
NM_001110556.2(FLNA):c.7333+16C>T
|
rs782052260
|
0.00007
|
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser)
|
rs797044752
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=)
|
rs782434593
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu)
|
rs142545002
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=)
|
rs1408670208
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His)
|
rs782727618
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.3015+9A>G
|
rs781956154
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.3116-4A>T
|
rs371502883
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser)
|
rs782101524
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.405G>A (p.Arg135=)
|
rs782085578
|
0.00007
|
|
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)
|
rs781940286
|
0.00007
|
|
NM_001159699.2(FHL1):c.736+8A>G
|
rs376754350
|
0.00007
|
|
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)
|
rs182340753
|
0.00007
|
|
NM_001184880.2(PCDH19):c.1218G>C (p.Leu406=)
|
rs368465446
|
0.00007
|
|
NM_001184880.2(PCDH19):c.1877C>T (p.Thr626Ile)
|
rs201764553
|
0.00007
|
|
NM_001184880.2(PCDH19):c.573G>C (p.Val191=)
|
rs766347338
|
0.00007
|
|
NM_001184880.2(PCDH19):c.792T>C (p.Asp264=)
|
rs373181586
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.24G>A (p.Ser8=)
|
rs1413001108
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.402+7A>T
|
rs373304318
|
0.00007
|
|
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=)
|
rs782313473
|
0.00007
|
|
NM_001399.5(EDA):c.526+10T>G
|
rs957016563
|
0.00007
|
|
NM_001399.5(EDA):c.870C>T (p.Ser290=)
|
rs760869403
|
0.00007
|
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
|
NM_005120.3(MED12):c.3111G>A (p.Thr1037=)
|
rs185658730
|
0.00007
|
|
NM_005120.3(MED12):c.4359G>A (p.Lys1453=)
|
rs766087487
|
0.00007
|
|
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)
|
rs756839501
|
0.00007
|
|
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)
|
rs587778438
|
0.00007
|
|
NM_005120.3(MED12):c.5712G>A (p.Ala1904=)
|
rs189962028
|
0.00007
|
|
NM_005120.3(MED12):c.6409-14C>A
|
rs374791085
|
0.00007
|
|
NM_005334.3(HCFC1):c.1085-16C>G
|
rs201181843
|
0.00007
|
|
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
|
rs782754046
|
0.00007
|
|
NM_005334.3(HCFC1):c.2029-9C>G
|
rs374910917
|
0.00007
|
|
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=)
|
rs782058954
|
0.00007
|
|
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met)
|
rs183246703
|
0.00007
|
|
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
|
NM_005765.3(ATP6AP2):c.472C>T (p.Leu158=)
|
rs372993268
|
0.00007
|
|
NM_006950.3(SYN1):c.506G>A (p.Arg169Gln)
|
rs775109362
|
0.00007
|
|
NM_006950.3(SYN1):c.564C>T (p.His188=)
|
rs768956462
|
0.00007
|
|
NM_006950.3(SYN1):c.775-20C>T
|
rs750015031
|
0.00007
|
|
NM_006950.3(SYN1):c.981-19C>T
|
rs375349005
|
0.00007
|
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
|
NM_031206.7(LAS1L):c.1860C>T (p.Ala620=)
|
rs374883101
|
0.00007
|
|
NM_031206.7(LAS1L):c.754G>A (p.Val252Met)
|
rs762043715
|
0.00007
|
|
NM_031206.7(LAS1L):c.75A>G (p.Gly25=)
|
rs1026704874
|
0.00007
|
|
NM_031206.7(LAS1L):c.940G>A (p.Val314Ile)
|
rs137948118
|
0.00007
|
|
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)
|
rs199727706
|
0.00007
|
|
NM_080632.3(UPF3B):c.1102C>T (p.Arg368Trp)
|
rs374676402
|
0.00007
|
|
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser)
|
rs375019683
|
0.00006
|
|
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile)
|
rs781806403
|
0.00006
|
|
NM_000033.4(ABCD1):c.1865+12G>A
|
rs373638861
|
0.00006
|
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
|
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val)
|
rs1189996419
|
0.00006
|
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
|
NM_000074.3(CD40LG):c.39G>A (p.Ala13=)
|
rs779460863
|
0.00006
|
|
NM_000117.3(EMD):c.188-12C>T
|
rs371016049
|
0.00006
|
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
|
NM_000240.4(MAOA):c.109G>A (p.Val37Ile)
|
rs779299641
|
0.00006
|
|
NM_000240.4(MAOA):c.1119C>A (p.Ile373=)
|
rs200913136
|
0.00006
|
|
NM_000240.4(MAOA):c.1389C>T (p.Leu463=)
|
rs771568228
|
0.00006
|
|
NM_000240.4(MAOA):c.412-13C>T
|
rs763906089
|
0.00006
|
|
NM_000252.3(MTM1):c.1455T>C (p.Ala485=)
|
rs141358705
|
0.00006
|
|
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr)
|
rs148195763
|
0.00006
|
|
NM_000252.3(MTM1):c.481G>A (p.Val161Met)
|
rs782744530
|
0.00006
|
|
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)
|
rs372053838
|
0.00006
|
|
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)
|
rs782666797
|
0.00006
|
|
NM_000377.3(WAS):c.1299G>A (p.Ala433=)
|
rs372649110
|
0.00006
|
|
NM_000377.3(WAS):c.1339-3C>T
|
rs373491815
|
0.00006
|
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
|
NM_000377.3(WAS):c.724A>T (p.Ser242Cys)
|
rs782286374
|
0.00006
|
|
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr)
|
rs149249195
|
0.00006
|
|
NM_000489.6(ATRX):c.12G>A (p.Glu4=)
|
rs782765957
|
0.00006
|
|
NM_000489.6(ATRX):c.189G>A (p.Glu63=)
|
rs587778082
|
0.00006
|
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
|
NM_000489.6(ATRX):c.2105A>G (p.Asn702Ser)
|
rs782409603
|
0.00006
|
|
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val)
|
rs376906761
|
0.00006
|
|
NM_000489.6(ATRX):c.2313G>A (p.Ala771=)
|
rs373458498
|
0.00006
|
|
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn)
|
rs782253706
|
0.00006
|
|
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr)
|
rs781825074
|
0.00006
|
|
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn)
|
rs782512381
|
0.00006
|
|
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)
|
rs868995055
|
0.00006
|
|
NM_000489.6(ATRX):c.370+8G>A
|
rs782746673
|
0.00006
|
|
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=)
|
rs782638271
|
0.00006
|
|
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=)
|
rs781984385
|
0.00006
|
|
NM_000489.6(ATRX):c.485-18G>A
|
rs782461396
|
0.00006
|
|
NM_000489.6(ATRX):c.4859G>A (p.Ser1620Asn)
|
rs781875880
|
0.00006
|
|
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=)
|
rs202114901
|
0.00006
|
|
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile)
|
rs782007408
|
0.00006
|
|
NM_001110556.2(FLNA):c.1120G>A (p.Val374Met)
|
rs201681328
|
0.00006
|
|
NM_001110556.2(FLNA):c.13C>T (p.His5Tyr)
|
rs781866647
|
0.00006
|
|
NM_001110556.2(FLNA):c.1503T>C (p.Ala501=)
|
rs1284568539
|
0.00006
|
|
NM_001110556.2(FLNA):c.1885G>A (p.Gly629Ser)
|
rs1431672096
|
0.00006
|
|
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=)
|
rs202055800
|
0.00006
|
|
NM_001110556.2(FLNA):c.2280+17C>T
|
rs369335695
|
0.00006
|
|
NM_001110556.2(FLNA):c.2325C>T (p.Tyr775=)
|
rs369460267
|
0.00006
|
|
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=)
|
rs1448428046
|
0.00006
|
|
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=)
|
rs782192587
|
0.00006
|
|
NM_001110556.2(FLNA):c.2811C>T (p.Tyr937=)
|
rs782211836
|
0.00006
|
|
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser)
|
rs372718245
|
0.00006
|
|
NM_001110556.2(FLNA):c.3094C>T (p.Arg1032Cys)
|
rs782546714
|
0.00006
|
|
NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn)
|
rs377390031
|
0.00006
|
|
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=)
|
rs183948518
|
0.00006
|
|
NM_001110556.2(FLNA):c.4755+5G>A
|
rs199803218
|
0.00006
|
|
NM_001110556.2(FLNA):c.5124C>T (p.Phe1708=)
|
rs368399445
|
0.00006
|
|
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=)
|
rs782806731
|
0.00006
|
|
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln)
|
rs781882457
|
0.00006
|
|
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=)
|
rs782204300
|
0.00006
|
|
NM_001110556.2(FLNA):c.5710G>A (p.Gly1904Ser)
|
rs782549964
|
0.00006
|
|
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys)
|
rs781860863
|
0.00006
|
|
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=)
|
rs372978023
|
0.00006
|
|
NM_001110556.2(FLNA):c.6324C>T (p.Pro2108=)
|
rs782691221
|
0.00006
|
|
NM_001110556.2(FLNA):c.66C>T (p.Asp22=)
|
rs782358007
|
0.00006
|
|
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=)
|
rs201203814
|
0.00006
|
|
NM_001110556.2(FLNA):c.768T>C (p.Ser256=)
|
rs782357419
|
0.00006
|
|
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys)
|
rs200836471
|
0.00006
|
|
NM_001111125.3(IQSEC2):c.2582+11C>A
|
rs782764289
|
0.00006
|
|
NM_001111125.3(IQSEC2):c.3015+16G>A
|
rs184771608
|
0.00006
|
|
NM_001111125.3(IQSEC2):c.3242C>T (p.Ala1081Val)
|
rs782715847
|
0.00006
|
|
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser)
|
rs782355048
|
0.00006
|
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00006
|
|
NM_001167.4(XIAP):c.1100-19T>G
|
rs28382736
|
0.00006
|
|
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)
|
rs200273554
|
0.00006
|
|
NM_001167.4(XIAP):c.296A>G (p.Glu99Gly)
|
rs769904534
|
0.00006
|
|
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met)
|
rs779051005
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
|
NM_001184880.2(PCDH19):c.2973C>T (p.Ile991=)
|
rs769375997
|
0.00006
|
|
NM_001184880.2(PCDH19):c.3195C>A (p.Val1065=)
|
rs781312992
|
0.00006
|
|
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=)
|
rs368094294
|
0.00006
|
|
NM_001184880.2(PCDH19):c.591C>T (p.Asp197=)
|
rs374554305
|
0.00006
|
|
NM_001184880.2(PCDH19):c.617T>G (p.Phe206Cys)
|
rs746274631
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=)
|
rs373866956
|
0.00006
|
|
NM_001353921.2(ARHGEF9):c.777G>A (p.Gln259=)
|
rs1057522740
|
0.00006
|
|
NM_001375834.1(WIPF1):c.650C>T (p.Pro217Leu)
|
rs11551322
|
0.00006
|
|
NM_001375834.1(WIPF1):c.698G>T (p.Gly233Val)
|
rs372545449
|
0.00006
|
|
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln)
|
rs61747506
|
0.00006
|
|
NM_005120.3(MED12):c.2220C>T (p.Ile740=)
|
rs370195616
|
0.00006
|
|
NM_005120.3(MED12):c.3222C>T (p.Ile1074=)
|
rs374156594
|
0.00006
|
|
NM_005120.3(MED12):c.3692-12C>T
|
rs1343656787
|
0.00006
|
|
NM_005120.3(MED12):c.4620G>T (p.Val1540=)
|
rs756385578
|
0.00006
|
|
NM_005120.3(MED12):c.5205C>T (p.Arg1735=)
|
rs747836622
|
0.00006
|
|
NM_005120.3(MED12):c.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
|
NM_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+13C>T
|
rs368179780
|
0.00006
|
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
|
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=)
|
rs782207714
|
0.00006
|
|
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=)
|
rs372071273
|
0.00006
|
|
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu)
|
rs898354567
|
0.00006
|
|
NM_005765.3(ATP6AP2):c.516T>C (p.Ser172=)
|
rs775818303
|
0.00006
|
|
NM_005765.3(ATP6AP2):c.588+7A>G
|
rs377112095
|
0.00006
|
|
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=)
|
rs149902247
|
0.00006
|
|
NM_006950.3(SYN1):c.1137C>T (p.Asp379=)
|
rs762471804
|
0.00006
|
|
NM_006950.3(SYN1):c.1370C>A (p.Ala457Asp)
|
rs781533684
|
0.00006
|
|
NM_006950.3(SYN1):c.249G>T (p.Ala83=)
|
rs780753887
|
0.00006
|
|
NM_006950.3(SYN1):c.436-12T>C
|
rs1057120503
|
0.00006
|
|
NM_006950.3(SYN1):c.897G>A (p.Lys299=)
|
rs142297702
|
0.00006
|
|
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg)
|
rs764178255
|
0.00006
|
|
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala)
|
rs200134441
|
0.00006
|
|
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=)
|
rs768273057
|
0.00006
|
|
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln)
|
rs201436658
|
0.00006
|
|
NM_031206.7(LAS1L):c.159G>A (p.Gln53=)
|
rs144560954
|
0.00006
|
|
NM_031206.7(LAS1L):c.1911A>G (p.Ala637=)
|
rs201733607
|
0.00006
|
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
|
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)
|
rs587783194
|
0.00006
|
|
NM_139058.3(ARX):c.237G>A (p.Leu79=)
|
rs1212876092
|
0.00006
|
|
NM_139058.3(ARX):c.602C>A (p.Pro201Gln)
|
rs1484238484
|
0.00006
|
|
NM_139058.3(ARX):c.603G>A (p.Pro201=)
|
rs1271214509
|
0.00006
|
|
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=)
|
rs782250326
|
0.00005
|
|
NM_000033.4(ABCD1):c.1635-6C>T
|
rs782661128
|
0.00005
|
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
|
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val)
|
rs367799134
|
0.00005
|
|
NM_000033.4(ABCD1):c.414C>T (p.Leu138=)
|
rs782197275
|
0.00005
|
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
|
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn)
|
rs781927920
|
0.00005
|
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
|
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu)
|
rs782566688
|
0.00005
|
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
|
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)
|
rs782619990
|
0.00005
|
|
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met)
|
rs376582437
|
0.00005
|
|
NM_000074.3(CD40LG):c.741G>C (p.Val247=)
|
rs764969326
|
0.00005
|
|
NM_000117.3(EMD):c.108G>A (p.Lys36=)
|
rs1057521050
|
0.00005
|
|
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)
|
rs1057520579
|
0.00005
|
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
|
NM_000117.3(EMD):c.525C>T (p.Ser175=)
|
rs782367505
|
0.00005
|
|
NM_000117.3(EMD):c.746A>G (p.Glu249Gly)
|
rs781947413
|
0.00005
|
|
NM_000240.4(MAOA):c.1262+19G>A
|
rs377168294
|
0.00005
|
|
NM_000252.3(MTM1):c.1376A>G (p.Asn459Ser)
|
rs587783785
|
0.00005
|
|
NM_000252.3(MTM1):c.1793A>G (p.His598Arg)
|
rs201373390
|
0.00005
|
|
NM_000252.3(MTM1):c.232-7A>G
|
rs373045797
|
0.00005
|
|
NM_000252.3(MTM1):c.285A>G (p.Lys95=)
|
rs1292849674
|
0.00005
|
|
NM_000252.3(MTM1):c.38C>T (p.Ser13Phe)
|
rs144473998
|
0.00005
|
|
NM_000252.3(MTM1):c.546T>C (p.His182=)
|
rs782217349
|
0.00005
|
|
NM_000252.3(MTM1):c.620G>A (p.Arg207His)
|
rs187357952
|
0.00005
|
|
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg)
|
rs782740989
|
0.00005
|
|
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)
|
rs201657175
|
0.00005
|
|
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)
|
rs782784813
|
0.00005
|
|
NM_000377.3(WAS):c.361-17C>T
|
rs782768055
|
0.00005
|
|
NM_000377.3(WAS):c.490A>C (p.Thr164Pro)
|
rs781918613
|
0.00005
|
|
NM_000377.3(WAS):c.69C>T (p.Pro23=)
|
rs1557006235
|
0.00005
|
|
NM_000377.3(WAS):c.941C>T (p.Pro314Leu)
|
rs782752881
|
0.00005
|
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
|
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr)
|
rs766116884
|
0.00005
|
|
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser)
|
rs776650491
|
0.00005
|
|
NM_000489.6(ATRX):c.1077G>T (p.Leu359=)
|
rs782504858
|
0.00005
|
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
|
NM_000489.6(ATRX):c.118A>G (p.Met40Val)
|
rs149990714
|
0.00005
|
|
NM_000489.6(ATRX):c.1386T>C (p.Ala462=)
|
rs367596462
|
0.00005
|
|
NM_000489.6(ATRX):c.1478A>G (p.His493Arg)
|
rs947189709
|
0.00005
|
|
NM_000489.6(ATRX):c.1617G>A (p.Gln539=)
|
rs151072312
|
0.00005
|
|
NM_000489.6(ATRX):c.1645A>G (p.Ser549Gly)
|
rs148513102
|
0.00005
|
|
NM_000489.6(ATRX):c.2133T>G (p.Pro711=)
|
rs782781621
|
0.00005
|
|
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu)
|
rs782529714
|
0.00005
|
|
NM_000489.6(ATRX):c.2697G>A (p.Thr899=)
|
rs137974888
|
0.00005
|
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
|
NM_000489.6(ATRX):c.2859A>G (p.Thr953=)
|
rs782180867
|
0.00005
|
|
NM_000489.6(ATRX):c.321G>A (p.Ala107=)
|
rs992631268
|
0.00005
|
|
NM_000489.6(ATRX):c.3505A>C (p.Lys1169Gln)
|
rs1225665090
|
0.00005
|
|
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val)
|
rs782257568
|
0.00005
|
|
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)
|
rs371187842
|
0.00005
|
|
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala)
|
rs781836912
|
0.00005
|
|
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=)
|
rs369658928
|
0.00005
|
|
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=)
|
rs781829081
|
0.00005
|
|
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=)
|
rs782097254
|
0.00005
|
|
NM_000489.6(ATRX):c.5957-9C>G
|
rs375791318
|
0.00005
|
|
NM_000489.6(ATRX):c.6018T>A (p.Val2006=)
|
rs781802180
|
0.00005
|
|
NM_000489.6(ATRX):c.6110+15A>G
|
rs1309299805
|
0.00005
|
|
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met)
|
rs192057045
|
0.00005
|
|
NM_000489.6(ATRX):c.7201-4A>G
|
rs782317502
|
0.00005
|
|
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)
|
rs199543136
|
0.00005
|
|
NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly)
|
rs145134351
|
0.00005
|
|
NM_001082486.2(ACD):c.100-7C>G
|
rs774058030
|
0.00005
|
|
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg)
|
rs553014261
|
0.00005
|
|
NM_001082486.2(ACD):c.1178G>A (p.Arg393Lys)
|
rs531580930
|
0.00005
|
|
NM_001082486.2(ACD):c.1226G>A (p.Arg409His)
|
rs374742891
|
0.00005
|
|
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met)
|
rs372747629
|
0.00005
|
|
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys)
|
rs200909340
|
0.00005
|
|
NM_001082486.2(ACD):c.617A>C (p.His206Pro)
|
rs755371076
|
0.00005
|
|
NM_001082486.2(ACD):c.793C>G (p.Leu265Val)
|
rs200934242
|
0.00005
|
|
NM_001110556.2(FLNA):c.1042C>G (p.Pro348Ala)
|
rs782643025
|
0.00005
|
|
NM_001110556.2(FLNA):c.1616G>A (p.Gly539Asp)
|
rs863223618
|
0.00005
|
|
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=)
|
rs782543203
|
0.00005
|
|
NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg)
|
rs200116438
|
0.00005
|
|
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu)
|
rs782193139
|
0.00005
|
|
NM_001110556.2(FLNA):c.3555C>T (p.Cys1185=)
|
rs1477689141
|
0.00005
|
|
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=)
|
rs377579695
|
0.00005
|
|
NM_001110556.2(FLNA):c.373+10G>T
|
rs368292402
|
0.00005
|
|
NM_001110556.2(FLNA):c.3929A>G (p.Gln1310Arg)
|
rs1557177601
|
0.00005
|
|
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=)
|
rs398123618
|
0.00005
|
|
NM_001110556.2(FLNA):c.4475-4C>T
|
rs199652065
|
0.00005
|
|
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=)
|
rs370476531
|
0.00005
|
|
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=)
|
rs1984380
|
0.00005
|
|
NM_001110556.2(FLNA):c.4945+3G>A
|
rs372673802
|
0.00005
|
|
NM_001110556.2(FLNA):c.500C>A (p.Thr167Asn)
|
rs863223641
|
0.00005
|
|
NM_001110556.2(FLNA):c.5342A>G (p.Asn1781Ser)
|
rs373089783
|
0.00005
|
|
NM_001110556.2(FLNA):c.543G>A (p.Pro181=)
|
rs201486643
|
0.00005
|
|
NM_001110556.2(FLNA):c.5520C>T (p.His1840=)
|
rs781795295
|
0.00005
|
|
NM_001110556.2(FLNA):c.5751T>C (p.Asp1917=)
|
rs1557176262
|
0.00005
|
|
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=)
|
rs782745205
|
0.00005
|
|
NM_001110556.2(FLNA):c.6218G>A (p.Arg2073His)
|
rs781956012
|
0.00005
|
|
NM_001110556.2(FLNA):c.6288C>T (p.Asp2096=)
|
rs782376124
|
0.00005
|
|
NM_001110556.2(FLNA):c.6394G>A (p.Val2132Met)
|
rs201396725
|
0.00005
|
|
NM_001110556.2(FLNA):c.6770-5C>T
|
rs370913359
|
0.00005
|
|
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met)
|
rs782084497
|
0.00005
|
|
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn)
|
rs371689052
|
0.00005
|
|
NM_001110556.2(FLNA):c.69G>A (p.Thr23=)
|
rs1406591945
|
0.00005
|
|
NM_001110556.2(FLNA):c.7052C>G (p.Ala2351Gly)
|
rs782583650
|
0.00005
|
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
|
NM_001110556.2(FLNA):c.7210G>A (p.Val2404Ile)
|
rs782811927
|
0.00005
|
|
NM_001110556.2(FLNA):c.7564G>A (p.Val2522Ile)
|
rs187774579
|
0.00005
|
|
NM_001110556.2(FLNA):c.7900G>C (p.Asp2634His)
|
rs782341270
|
0.00005
|
|
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu)
|
rs371830740
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.120G>A (p.Gln40=)
|
rs1057522131
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=)
|
rs200629644
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu)
|
rs782243346
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln)
|
rs782420335
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.1703G>A (p.Arg568His)
|
rs1188327285
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=)
|
rs782132072
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.3115+11T>G
|
rs782704136
|
0.00005
|
|
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val)
|
rs1003745171
|
0.00005
|
|
NM_001159699.2(FHL1):c.408C>T (p.Thr136=)
|
rs755900253
|
0.00005
|
|
NM_001159699.2(FHL1):c.456C>T (p.Ile152=)
|
rs747594885
|
0.00005
|
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
|
NM_001159699.2(FHL1):c.550-15C>A
|
rs764137409
|
0.00005
|
|
NM_001159699.2(FHL1):c.696T>C (p.Phe232=)
|
rs758030097
|
0.00005
|
|
NM_001159699.2(FHL1):c.737-18C>T
|
rs866716263
|
0.00005
|
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
|
NM_001167.4(XIAP):c.1149G>A (p.Gly383=)
|
rs374184914
|
0.00005
|
|
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys)
|
rs775237858
|
0.00005
|
|
NM_001167.4(XIAP):c.1194G>T (p.Gln398His)
|
rs776377233
|
0.00005
|
|
NM_001184880.2(PCDH19):c.1644G>A (p.Thr548=)
|
rs372952752
|
0.00005
|
|
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
|
rs763745318
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu)
|
rs1325807867
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2430C>T (p.Ser810=)
|
rs751223449
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2939G>A (p.Arg980His)
|
rs368872920
|
0.00005
|
|
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=)
|
rs772345040
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3127A>G (p.Ile1043Val)
|
rs189342249
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3299A>G (p.Asn1100Ser)
|
rs777494666
|
0.00005
|
|
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
|
NM_001184880.2(PCDH19):c.34C>T (p.Leu12=)
|
rs769164159
|
0.00005
|
|
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=)
|
rs368963363
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val)
|
rs781988728
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1390+18A>G
|
rs782653539
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1391-4C>G
|
rs1556301481
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser)
|
rs781870482
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1443G>A (p.Pro481=)
|
rs782097997
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.1465G>C (p.Val489Leu)
|
rs369081815
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.381G>A (p.Lys127=)
|
rs55818901
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=)
|
rs781930227
|
0.00005
|
|
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=)
|
rs369716500
|
0.00005
|
|
NM_001375834.1(WIPF1):c.1177C>T (p.Arg393Trp)
|
rs143156793
|
0.00005
|
|
NM_001375834.1(WIPF1):c.55A>C (p.Asn19His)
|
rs769425496
|
0.00005
|
|
NM_001375834.1(WIPF1):c.56A>G (p.Asn19Ser)
|
rs369103774
|
0.00005
|
|
NM_001399.5(EDA):c.717T>G (p.Asp239Glu)
|
rs766810445
|
0.00005
|
|
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=)
|
rs142680221
|
0.00005
|
|
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val)
|
rs148050184
|
0.00005
|
|
NM_005120.3(MED12):c.1323C>T (p.Phe441=)
|
rs371928861
|
0.00005
|
|
NM_005120.3(MED12):c.2311A>G (p.Ile771Val)
|
rs749158402
|
0.00005
|
|
NM_005120.3(MED12):c.2685+17G>T
|
rs767584131
|
0.00005
|
|
NM_005120.3(MED12):c.4253+4G>A
|
rs750162341
|
0.00005
|
|
NM_005120.3(MED12):c.4864-6C>T
|
rs1018026145
|
0.00005
|
|
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)
|
rs759857680
|
0.00005
|
|
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)
|
rs398124198
|
0.00005
|
|
NM_005120.3(MED12):c.5109C>T (p.Gly1703=)
|
rs781134410
|
0.00005
|
|
NM_005120.3(MED12):c.5301C>G (p.Pro1767=)
|
rs1381304769
|
0.00005
|
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
|
NM_005120.3(MED12):c.6003G>A (p.Gln2001=)
|
rs1226474526
|
0.00005
|
|
NM_005120.3(MED12):c.6044+20G>T
|
rs1022385883
|
0.00005
|
|
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)
|
rs200692655
|
0.00005
|
|
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)
|
rs748668603
|
0.00005
|
|
NM_005120.3(MED12):c.727A>C (p.Met243Leu)
|
rs1569480971
|
0.00005
|
|
NM_005120.3(MED12):c.906A>G (p.Thr302=)
|
rs1458066906
|
0.00005
|
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
|
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=)
|
rs200268397
|
0.00005
|
|
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=)
|
rs201117046
|
0.00005
|
|
NM_005334.3(HCFC1):c.1606-13G>A
|
rs782300809
|
0.00005
|
|
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=)
|
rs371233332
|
0.00005
|
|
NM_005334.3(HCFC1):c.1804-18C>T
|
rs1057522797
|
0.00005
|
|
NM_005334.3(HCFC1):c.2134-20C>A
|
rs368718262
|
0.00005
|
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
|
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
|
rs782045987
|
0.00005
|
|
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met)
|
rs782413424
|
0.00005
|
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
0.00005
|
|
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
|
rs781804858
|
0.00005
|
|
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
|
rs782310209
|
0.00005
|
|
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met)
|
rs782354655
|
0.00005
|
|
NM_005391.5(PDK3):c.486C>T (p.Arg162=)
|
rs1479754596
|
0.00005
|
|
NM_005391.5(PDK3):c.506-6G>A
|
rs376450754
|
0.00005
|
|
NM_005765.3(ATP6AP2):c.218G>A (p.Arg73Gln)
|
rs138150013
|
0.00005
|
|
NM_005765.3(ATP6AP2):c.315T>G (p.Ser105Arg)
|
rs745748841
|
0.00005
|
|
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=)
|
rs138952430
|
0.00005
|
|
NM_006950.3(SYN1):c.1026G>A (p.Ala342=)
|
rs777301855
|
0.00005
|
|
NM_006950.3(SYN1):c.108T>C (p.Gly36=)
|
rs758180955
|
0.00005
|
|
NM_006950.3(SYN1):c.1345T>A (p.Ser449Thr)
|
rs796053394
|
0.00005
|
|
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)
|
rs749342768
|
0.00005
|
|
NM_006950.3(SYN1):c.360C>A (p.Asp120Glu)
|
rs372165835
|
0.00005
|
|
NM_006950.3(SYN1):c.720G>A (p.Gly240=)
|
rs149166420
|
0.00005
|
|
NM_006950.3(SYN1):c.944G>A (p.Arg315His)
|
rs370854090
|
0.00005
|
|
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=)
|
rs199758910
|
0.00005
|
|
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=)
|
rs188766357
|
0.00005
|
|
NM_031206.7(LAS1L):c.1892G>C (p.Gly631Ala)
|
rs371394378
|
0.00005
|
|
NM_031206.7(LAS1L):c.937G>A (p.Gly313Ser)
|
rs745313876
|
0.00005
|
|
NM_139058.3(ARX):c.1263G>C (p.Pro421=)
|
rs923672115
|
0.00005
|
|
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)
|
rs763950769
|
0.00005
|
|
NM_139058.3(ARX):c.223T>G (p.Phe75Val)
|
rs999545482
|
0.00005
|
|
NM_139058.3(ARX):c.629G>C (p.Gly210Ala)
|
rs752323898
|
0.00005
|
|
NM_139058.3(ARX):c.642C>A (p.Ala214=)
|
rs997439358
|
0.00005
|
|
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys)
|
rs781983308
|
0.00004
|
|
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=)
|
rs782004836
|
0.00004
|
|
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val)
|
rs1432758988
|
0.00004
|
|
NM_000033.4(ABCD1):c.1533C>T (p.Cys511=)
|
rs782370364
|
0.00004
|
|
NM_000033.4(ABCD1):c.1865+11C>T
|
rs781956636
|
0.00004
|
|
NM_000033.4(ABCD1):c.1991+7G>A
|
rs782472075
|
0.00004
|
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
|
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala)
|
rs781900720
|
0.00004
|
|
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys)
|
rs781850760
|
0.00004
|
|
NM_000033.4(ABCD1):c.507C>T (p.His169=)
|
rs782525046
|
0.00004
|
|
NM_000033.4(ABCD1):c.600C>T (p.Asp200=)
|
rs782724538
|
0.00004
|
|
NM_000033.4(ABCD1):c.900+10G>C
|
rs1177363482
|
0.00004
|
|
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=)
|
rs376042813
|
0.00004
|
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
|
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=)
|
rs139000596
|
0.00004
|
|
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=)
|
rs377355446
|
0.00004
|
|
NM_000052.7(ATP7A):c.2172+7G>T
|
rs782433802
|
0.00004
|
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
|
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=)
|
rs1307515001
|
0.00004
|
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
|
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=)
|
rs1325311308
|
0.00004
|
|
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
|
rs782323741
|
0.00004
|
|
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)
|
rs375788705
|
0.00004
|
|
NM_000052.7(ATP7A):c.4005+19C>A
|
rs1231604254
|
0.00004
|
|
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=)
|
rs146052682
|
0.00004
|
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
|
NM_000117.3(EMD):c.171C>T (p.Ser57=)
|
rs900267221
|
0.00004
|
|
NM_000117.3(EMD):c.183C>T (p.Phe61=)
|
rs782643028
|
0.00004
|
|
NM_000117.3(EMD):c.30C>G (p.Thr10=)
|
rs145781828
|
0.00004
|
|
NM_000117.3(EMD):c.459C>T (p.Pro153=)
|
rs782147479
|
0.00004
|
|
NM_000117.3(EMD):c.581C>T (p.Ser194Leu)
|
rs782697057
|
0.00004
|
|
NM_000117.3(EMD):c.585A>G (p.Ser195=)
|
rs140970151
|
0.00004
|
|
NM_000117.3(EMD):c.608G>A (p.Arg203His)
|
rs144842093
|
0.00004
|
|
NM_000240.4(MAOA):c.1262+18C>T
|
rs372784589
|
0.00004
|
|
NM_000240.4(MAOA):c.374A>G (p.Asn125Ser)
|
rs201799429
|
0.00004
|
|
NM_000240.4(MAOA):c.702C>T (p.Leu234=)
|
rs370853887
|
0.00004
|
|
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn)
|
rs782295697
|
0.00004
|
|
NM_000252.3(MTM1):c.1383A>G (p.Gln461=)
|
rs782410861
|
0.00004
|
|
NM_000252.3(MTM1):c.1695C>T (p.Asp565=)
|
rs140744506
|
0.00004
|
|
NM_000252.3(MTM1):c.230C>T (p.Thr77Met)
|
rs782640338
|
0.00004
|
|
NM_000252.3(MTM1):c.66G>A (p.Thr22=)
|
rs781793926
|
0.00004
|
|
NM_000252.3(MTM1):c.710C>T (p.Thr237Met)
|
rs375590163
|
0.00004
|
|
NM_000252.3(MTM1):c.868-9G>T
|
rs782148583
|
0.00004
|
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
|
NM_000377.3(WAS):c.463+3G>C
|
rs1274245256
|
0.00004
|
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
|
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met)
|
rs199780997
|
0.00004
|
|
NM_000489.6(ATRX):c.1047C>G (p.Pro349=)
|
rs200288042
|
0.00004
|
|
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala)
|
rs587780284
|
0.00004
|
|
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro)
|
rs781820428
|
0.00004
|
|
NM_000489.6(ATRX):c.1625T>C (p.Val542Ala)
|
rs782158232
|
0.00004
|
|
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys)
|
rs782446684
|
0.00004
|
|
NM_000489.6(ATRX):c.1804G>A (p.Gly602Ser)
|
rs886044864
|
0.00004
|
|
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly)
|
rs781804632
|
0.00004
|
|
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr)
|
rs782171296
|
0.00004
|
|
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly)
|
rs368980616
|
0.00004
|
|
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln)
|
rs782181535
|
0.00004
|
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
|
NM_000489.6(ATRX):c.2527A>T (p.Asn843Tyr)
|
rs782018257
|
0.00004
|
|
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg)
|
rs782593341
|
0.00004
|
|
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp)
|
rs782123222
|
0.00004
|
|
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn)
|
rs373581602
|
0.00004
|
|
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu)
|
rs1557138704
|
0.00004
|
|
NM_000489.6(ATRX):c.2880C>T (p.Gly960=)
|
rs782796279
|
0.00004
|
|
NM_000489.6(ATRX):c.2922C>T (p.Ser974=)
|
rs1476227727
|
0.00004
|
|
NM_000489.6(ATRX):c.2940T>C (p.Asp980=)
|
rs978376242
|
0.00004
|
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
|
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser)
|
rs782781078
|
0.00004
|
|
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=)
|
rs782472957
|
0.00004
|
|
NM_000489.6(ATRX):c.3737-6C>T
|
rs373071937
|
0.00004
|
|
NM_000489.6(ATRX):c.3801T>C (p.Pro1267=)
|
rs149717199
|
0.00004
|
|
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu)
|
rs782302000
|
0.00004
|
|
NM_000489.6(ATRX):c.4214+17T>C
|
rs782525895
|
0.00004
|
|
NM_000489.6(ATRX):c.4215-20_4215-18del
|
rs1188376416
|
0.00004
|
|
NM_000489.6(ATRX):c.4542A>G (p.Arg1514=)
|
rs372133964
|
0.00004
|
|
NM_000489.6(ATRX):c.4557+15T>C
|
rs782672265
|
0.00004
|
|
NM_000489.6(ATRX):c.501G>A (p.Gly167=)
|
rs139919697
|
0.00004
|
|
NM_000489.6(ATRX):c.5272+16T>C
|
rs377679337
|
0.00004
|
|
NM_000489.6(ATRX):c.5448+20T>G
|
rs782183661
|
0.00004
|
|
NM_000489.6(ATRX):c.5567-18C>T
|
rs782747817
|
0.00004
|
|
NM_000489.6(ATRX):c.5956+16G>A
|
rs782016890
|
0.00004
|
|
NM_000489.6(ATRX):c.6505-8T>C
|
rs782548527
|
0.00004
|
|
NM_000489.6(ATRX):c.6640T>G (p.Leu2214Val)
|
rs782396522
|
0.00004
|
|
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=)
|
rs782527659
|
0.00004
|
|
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
|
rs369871569
|
0.00004
|
|
NM_000489.6(ATRX):c.913A>G (p.Ser305Gly)
|
rs782778928
|
0.00004
|
|
NM_001015877.2(PHF6):c.528A>G (p.Ser176=)
|
rs150815514
|
0.00004
|
|
NM_001082486.1(ACD):c.20G>C (p.Ser7Thr)
|
rs373593390
|
0.00004
|
|
NM_001082486.1(ACD):c.78C>T (p.Ser26=)
|
rs142762905
|
0.00004
|
|
NM_001082486.1(ACD):c.80G>A (p.Gly27Glu)
|
rs778255016
|
0.00004
|
|
NM_001082486.1(ACD):c.9C>G (p.Gly3=)
|
rs201685459
|
0.00004
|
|
NM_001082486.2(ACD):c.1207-8C>T
|
rs201192255
|
0.00004
|
|
NM_001082486.2(ACD):c.242+7G>A
|
rs368510441
|
0.00004
|
|
NM_001082486.2(ACD):c.399_400insAAG (p.Leu133_Arg134insLys)
|
rs781239912
|
0.00004
|
|
NM_001082486.2(ACD):c.513T>G (p.Leu171=)
|
rs755523137
|
0.00004
|
|
NM_001082486.2(ACD):c.741G>C (p.Gln247His)
|
rs776468683
|
0.00004
|
|
NM_001082486.2(ACD):c.861C>T (p.Ser287=)
|
rs751515020
|
0.00004
|
|
NM_001082486.2(ACD):c.876C>T (p.Thr292=)
|
rs372485172
|
0.00004
|
|
NM_001082486.2(ACD):c.944C>A (p.Pro315His)
|
rs147306863
|
0.00004
|
|
NM_001110556.2(FLNA):c.1071T>C (p.Thr357=)
|
rs1557179291
|
0.00004
|
|
NM_001110556.2(FLNA):c.1092C>T (p.His364=)
|
rs782530005
|
0.00004
|
|
NM_001110556.2(FLNA):c.1248C>T (p.Val416=)
|
rs781947994
|
0.00004
|
|
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys)
|
rs782673341
|
0.00004
|
|
NM_001110556.2(FLNA):c.1429+9G>A
|
rs782226711
|
0.00004
|
|
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln)
|
rs782371735
|
0.00004
|
|
NM_001110556.2(FLNA):c.1620C>T (p.Phe540=)
|
rs782757137
|
0.00004
|
|
NM_001110556.2(FLNA):c.1621G>A (p.Glu541Lys)
|
rs743546
|
0.00004
|
|
NM_001110556.2(FLNA):c.1665G>A (p.Thr555=)
|
rs782376419
|
0.00004
|
|
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=)
|
rs782155641
|
0.00004
|
|
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile)
|
rs782776511
|
0.00004
|
|
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His)
|
rs782495413
|
0.00004
|
|
NM_001110556.2(FLNA):c.1911G>A (p.Pro637=)
|
rs782428502
|
0.00004
|
|
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His)
|
rs782563602
|
0.00004
|
|
NM_001110556.2(FLNA):c.2023-5G>A
|
rs782694533
|
0.00004
|
|
NM_001110556.2(FLNA):c.2023-6C>T
|
rs372021340
|
0.00004
|
|
NM_001110556.2(FLNA):c.2136+14G>A
|
rs782605171
|
0.00004
|
|
NM_001110556.2(FLNA):c.2157G>A (p.Val719=)
|
rs1223717802
|
0.00004
|
|
NM_001110556.2(FLNA):c.2389G>A (p.Ala797Thr)
|
rs201073998
|
0.00004
|
|
NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val)
|
rs371361696
|
0.00004
|
|
NM_001110556.2(FLNA):c.2656+14C>G
|
rs369957061
|
0.00004
|
|
NM_001110556.2(FLNA):c.2657-17C>T
|
rs782250066
|
0.00004
|
|
NM_001110556.2(FLNA):c.270C>T (p.His90=)
|
rs781987195
|
0.00004
|
|
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg)
|
rs781988041
|
0.00004
|
|
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=)
|
rs373908435
|
0.00004
|
|
NM_001110556.2(FLNA):c.3208-12T>C
|
rs1432559993
|
0.00004
|
|
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=)
|
rs782006734
|
0.00004
|
|
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=)
|
rs781917512
|
0.00004
|
|
NM_001110556.2(FLNA):c.3864C>T (p.Thr1288=)
|
rs374068639
|
0.00004
|
|
NM_001110556.2(FLNA):c.4143-19G>A
|
rs782235481
|
0.00004
|
|
NM_001110556.2(FLNA):c.4183C>T (p.Pro1395Ser)
|
rs782161982
|
0.00004
|
|
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu)
|
rs782426283
|
0.00004
|
|
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser)
|
rs1402204338
|
0.00004
|
|
NM_001110556.2(FLNA):c.5061C>T (p.Thr1687=)
|
rs781841607
|
0.00004
|
|
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met)
|
rs782555986
|
0.00004
|
|
NM_001110556.2(FLNA):c.5151G>A (p.Pro1717=)
|
rs782646183
|
0.00004
|
|
NM_001110556.2(FLNA):c.5218-4G>A
|
rs370196495
|
0.00004
|
|
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys)
|
rs781962741
|
0.00004
|
|
NM_001110556.2(FLNA):c.6033C>T (p.Phe2011=)
|
rs374508752
|
0.00004
|
|
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys)
|
rs782779958
|
0.00004
|
|
NM_001110556.2(FLNA):c.6219C>T (p.Arg2073=)
|
rs782365685
|
0.00004
|
|
NM_001110556.2(FLNA):c.621G>A (p.Pro207=)
|
rs200632859
|
0.00004
|
|
NM_001110556.2(FLNA):c.6273C>T (p.Asp2091=)
|
rs781913265
|
0.00004
|
|
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser)
|
rs200200745
|
0.00004
|
|
NM_001110556.2(FLNA):c.6316T>C (p.Tyr2106His)
|
rs377052615
|
0.00004
|
|
NM_001110556.2(FLNA):c.63C>T (p.Val21=)
|
rs782306951
|
0.00004
|
|
NM_001110556.2(FLNA):c.7074C>T (p.Asn2358=)
|
rs35390129
|
0.00004
|
|
NM_001110556.2(FLNA):c.720+8C>T
|
rs371927910
|
0.00004
|
|
NM_001110556.2(FLNA):c.720+9G>A
|
rs781887001
|
0.00004
|
|
NM_001110556.2(FLNA):c.7725G>A (p.Lys2575=)
|
rs782375435
|
0.00004
|
|
NM_001110556.2(FLNA):c.7776G>C (p.Val2592=)
|
rs369380495
|
0.00004
|
|
NM_001110556.2(FLNA):c.843G>A (p.Pro281=)
|
rs782070351
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.1401+7A>G
|
rs782164403
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=)
|
rs781828922
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2022T>A (p.Gly674=)
|
rs1471608548
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys)
|
rs781830206
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2232G>A (p.Ser744=)
|
rs371815225
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=)
|
rs782668223
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2784C>G (p.Leu928=)
|
rs781904549
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=)
|
rs191305900
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.3318C>T (p.Ala1106=)
|
rs781870523
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)
|
rs782697291
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.3502-19C>T
|
rs782166410
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.3837G>A (p.Pro1279=)
|
rs1405620315
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.3939C>T (p.Ala1313=)
|
rs1473963072
|
0.00004
|
|
NM_001111125.3(IQSEC2):c.4206G>A (p.Ala1402=)
|
rs1057521782
|
0.00004
|
|
NM_001159699.2(FHL1):c.243C>T (p.Cys81=)
|
rs777580253
|
0.00004
|
|
NM_001159699.2(FHL1):c.380-16T>C
|
rs772665517
|
0.00004
|
|
NM_001159699.2(FHL1):c.651C>T (p.Thr217=)
|
rs370597064
|
0.00004
|
|
NM_001159699.2(FHL1):c.737-10T>C
|
rs767421819
|
0.00004
|
|
NM_001159699.2(FHL1):c.737-5C>A
|
rs771803774
|
0.00004
|
|
NM_001184880.2(PCDH19):c.1246C>A (p.His416Asn)
|
rs778618689
|
0.00004
|
|
NM_001184880.2(PCDH19):c.1684G>A (p.Val562Ile)
|
rs755456420
|
0.00004
|
|
NM_001184880.2(PCDH19):c.1841T>G (p.Phe614Cys)
|
rs759085956
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2176G>A (p.Gly726Ser)
|
rs771012472
|
0.00004
|
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2358C>T (p.Ile786=)
|
rs768467022
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2361C>G (p.Arg787=)
|
rs754841050
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His)
|
rs371323886
|
0.00004
|
|
NM_001184880.2(PCDH19):c.2975C>T (p.Ala992Val)
|
rs371109150
|
0.00004
|
|
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys)
|
rs369647740
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.372C>T (p.His124=)
|
rs138198839
|
0.00004
|
|
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=)
|
rs782520132
|
0.00004
|
|
NM_001375834.1(WIPF1):c.1295C>T (p.Pro432Leu)
|
rs148300861
|
0.00004
|
|
NM_001375834.1(WIPF1):c.147G>A (p.Thr49=)
|
rs770996629
|
0.00004
|
|
NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=)
|
rs368381822
|
0.00004
|
|
NM_001375834.1(WIPF1):c.211G>A (p.Gly71Ser)
|
rs140541247
|
0.00004
|
|
NM_001375834.1(WIPF1):c.49C>T (p.Leu17=)
|
rs769395136
|
0.00004
|
|
NM_001375834.1(WIPF1):c.827C>G (p.Ser276Cys)
|
rs781658089
|
0.00004
|
|
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro)
|
rs201094141
|
0.00004
|
|
NM_001375834.1(WIPF1):c.954G>A (p.Pro318=)
|
rs943312416
|
0.00004
|
|
NM_001399.5(EDA):c.1080C>T (p.Ile360=)
|
rs375844339
|
0.00004
|
|
NM_001399.5(EDA):c.1137C>T (p.Phe379=)
|
rs780582849
|
0.00004
|
|
NM_001399.5(EDA):c.469A>G (p.Asn157Asp)
|
rs374824991
|
0.00004
|
|
NM_001399.5(EDA):c.707-9A>G
|
rs369843699
|
0.00004
|
|
NM_001399.5(EDA):c.804T>C (p.Gly268=)
|
rs779193585
|
0.00004
|
|
NM_001399.5(EDA):c.808G>A (p.Val270Met)
|
rs748191518
|
0.00004
|
|
NM_004586.3(RPS6KA3):c.846-6A>G
|
rs375177835
|
0.00004
|
|
NM_005120.3(MED12):c.1348+18G>A
|
rs776024292
|
0.00004
|
|
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln)
|
rs760696164
|
0.00004
|
|
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)
|
rs766485358
|
0.00004
|
|
NM_005120.3(MED12):c.1744+4C>T
|
rs780750721
|
0.00004
|
|
NM_005120.3(MED12):c.1975-5C>T
|
rs200891932
|
0.00004
|
|
NM_005120.3(MED12):c.2136C>T (p.Pro712=)
|
rs377207665
|
0.00004
|
|
NM_005120.3(MED12):c.255C>T (p.Thr85=)
|
rs979820064
|
0.00004
|
|
NM_005120.3(MED12):c.2571G>A (p.Thr857=)
|
rs368090262
|
0.00004
|
|
NM_005120.3(MED12):c.3691+4C>T
|
rs373381746
|
0.00004
|
|
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)
|
rs1028631372
|
0.00004
|
|
NM_005120.3(MED12):c.4028G>A (p.Arg1343His)
|
rs201044355
|
0.00004
|
|
NM_005120.3(MED12):c.4044C>T (p.Leu1348=)
|
rs367674919
|
0.00004
|
|
NM_005120.3(MED12):c.4416-6C>T
|
rs775717904
|
0.00004
|
|
NM_005120.3(MED12):c.4863+15C>T
|
rs778076528
|
0.00004
|
|
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln)
|
rs1196582695
|
0.00004
|
|
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)
|
rs753355369
|
0.00004
|
|
NM_005120.3(MED12):c.5442G>C (p.Val1814=)
|
rs773540568
|
0.00004
|
|
NM_005120.3(MED12):c.5775A>G (p.Ser1925=)
|
rs376753995
|
0.00004
|
|
NM_005120.3(MED12):c.5826+7G>C
|
rs374573886
|
0.00004
|
|
NM_005120.3(MED12):c.5966G>A (p.Arg1989His)
|
rs1569482448
|
0.00004
|
|
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln)
|
rs750926172
|
0.00004
|
|
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)
|
rs750648216
|
0.00004
|
|
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile)
|
rs762612521
|
0.00004
|
|
NM_005120.3(MED12):c.6285A>G (p.Gln2095=)
|
rs794727673
|
0.00004
|
|
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=)
|
rs782501125
|
0.00004
|
|
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
|
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
|
rs782410390
|
0.00004
|
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
|
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile)
|
rs782370174
|
0.00004
|
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
|
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=)
|
rs782064674
|
0.00004
|
|
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=)
|
rs782369645
|
0.00004
|
|
NM_005334.3(HCFC1):c.6004+14G>A
|
rs371228352
|
0.00004
|
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
|
NM_005391.5(PDK3):c.231G>T (p.Val77=)
|
rs769270588
|
0.00004
|
|
NM_005391.5(PDK3):c.820G>A (p.Val274Ile)
|
rs773597771
|
0.00004
|
|
NM_005765.3(ATP6AP2):c.120G>A (p.Glu40=)
|
rs748408839
|
0.00004
|
|
NM_005765.3(ATP6AP2):c.859-11C>T
|
rs767283025
|
0.00004
|
|
NM_006950.3(SYN1):c.1065G>A (p.Leu355=)
|
rs1410566216
|
0.00004
|
|
NM_006950.3(SYN1):c.1263G>A (p.Gln421=)
|
rs746903128
|
0.00004
|
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
|
NM_006950.3(SYN1):c.1692C>T (p.Thr564=)
|
rs1463522576
|
0.00004
|
|
NM_006950.3(SYN1):c.371C>T (p.Thr124Ile)
|
rs1339768860
|
0.00004
|
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
|
NM_006950.3(SYN1):c.630C>T (p.Ile210=)
|
rs35944641
|
0.00004
|
|
NM_006950.3(SYN1):c.946G>A (p.Val316Ile)
|
rs770266055
|
0.00004
|
|
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=)
|
rs763192908
|
0.00004
|
|
NM_016032.4(ZDHHC9):c.384T>C (p.Asn128=)
|
rs141113457
|
0.00004
|
|
NM_016032.4(ZDHHC9):c.674+20T>C
|
rs45555436
|
0.00004
|
|
NM_016032.4(ZDHHC9):c.881+3G>A
|
rs775743190
|
0.00004
|
|
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=)
|
rs746144334
|
0.00004
|
|
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=)
|
rs774530909
|
0.00004
|
|
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly)
|
rs1199130382
|
0.00004
|
|
NM_022914.2(ACD):c.116G>A (p.Arg39His)
|
rs199612237
|
0.00004
|
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
|
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=)
|
rs373278066
|
0.00004
|
|
NM_080632.3(UPF3B):c.277A>G (p.Met93Val)
|
rs770557726
|
0.00004
|
|
NM_080632.3(UPF3B):c.807+19T>C
|
rs750984351
|
0.00004
|
|
NM_139058.3(ARX):c.1389C>T (p.Ser463=)
|
rs760617042
|
0.00004
|
|
NM_139058.3(ARX):c.1462A>G (p.Met488Val)
|
rs767404024
|
0.00004
|
|
NM_139058.3(ARX):c.855G>A (p.Glu285=)
|
rs139301257
|
0.00004
|
|
NM_139058.3(ARX):c.921C>A (p.Gly307=)
|
rs398124519
|
0.00004
|
|
NM_139058.3(ARX):c.99G>A (p.Leu33=)
|
rs756804509
|
0.00004
|
|
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=)
|
rs782548310
|
0.00003
|
|
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His)
|
rs782755297
|
0.00003
|
|
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg)
|
rs782242003
|
0.00003
|
|
NM_000033.4(ABCD1):c.1489-13G>T
|
rs782622708
|
0.00003
|
|
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=)
|
rs1557054743
|
0.00003
|
|
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=)
|
rs782581290
|
0.00003
|
|
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=)
|
rs144996101
|
0.00003
|
|
NM_000033.4(ABCD1):c.2169C>T (p.Ala723=)
|
rs1557055461
|
0.00003
|
|
NM_000033.4(ABCD1):c.294G>T (p.Ser98=)
|
rs781954264
|
0.00003
|
|
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)
|
rs1224689084
|
0.00003
|
|
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile)
|
rs782720024
|
0.00003
|
|
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly)
|
rs781871257
|
0.00003
|
|
NM_000033.4(ABCD1):c.732G>A (p.Ser244=)
|
rs782643462
|
0.00003
|
|
NM_000033.4(ABCD1):c.768C>T (p.Asn256=)
|
rs782236148
|
0.00003
|
|
NM_000033.4(ABCD1):c.90C>T (p.His30=)
|
rs782195097
|
0.00003
|
|
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser)
|
rs372780635
|
0.00003
|
|
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln)
|
rs201763950
|
0.00003
|
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
|
NM_000052.7(ATP7A):c.1870-12G>T
|
rs1203434891
|
0.00003
|
|
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys)
|
rs781837620
|
0.00003
|
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
|
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
|
rs782174967
|
0.00003
|
|
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val)
|
rs782430502
|
0.00003
|
|
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val)
|
rs782513950
|
0.00003
|
|
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser)
|
rs782764064
|
0.00003
|
|
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly)
|
rs782231801
|
0.00003
|
|
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val)
|
rs781866452
|
0.00003
|
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
|
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr)
|
rs936157944
|
0.00003
|
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
|
NM_000052.7(ATP7A):c.984A>G (p.Pro328=)
|
rs2077657952
|
0.00003
|
|
NM_000074.3(CD40LG):c.204G>A (p.Thr68=)
|
rs775209130
|
0.00003
|
|
NM_000074.3(CD40LG):c.327C>A (p.Asn109Lys)
|
rs1318466267
|
0.00003
|
|
NM_000074.3(CD40LG):c.6C>T (p.Ile2=)
|
rs767236871
|
0.00003
|
|
NM_000117.3(EMD):c.110A>T (p.Lys37Met)
|
rs1085307681
|
0.00003
|
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
|
NM_000117.3(EMD):c.234G>A (p.Lys78=)
|
rs781889152
|
0.00003
|
|
NM_000117.3(EMD):c.243C>T (p.Asp81=)
|
rs150757295
|
0.00003
|
|
NM_000117.3(EMD):c.267C>G (p.Gly89=)
|
rs1201464258
|
0.00003
|
|
NM_000117.3(EMD):c.361G>A (p.Val121Met)
|
rs2067880161
|
0.00003
|
|
NM_000117.3(EMD):c.390C>T (p.Phe130=)
|
rs781952981
|
0.00003
|
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
|
NM_000117.3(EMD):c.39C>A (p.Thr13=)
|
rs1352660201
|
0.00003
|
|
NM_000117.3(EMD):c.400-20G>A
|
rs782354948
|
0.00003
|
|
NM_000117.3(EMD):c.412G>A (p.Asp138Asn)
|
rs782737897
|
0.00003
|
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
|
NM_000117.3(EMD):c.469C>T (p.Arg157Trp)
|
rs782431693
|
0.00003
|
|
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)
|
rs886044839
|
0.00003
|
|
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)
|
rs782559230
|
0.00003
|
|
NM_000117.3(EMD):c.672G>A (p.Pro224=)
|
rs1267603257
|
0.00003
|
|
NM_000117.3(EMD):c.677G>C (p.Trp226Ser)
|
rs141732118
|
0.00003
|
|
NM_000117.3(EMD):c.714C>T (p.Val238=)
|
rs782290874
|
0.00003
|
|
NM_000240.4(MAOA):c.956-8T>G
|
rs780408416
|
0.00003
|
|
NM_000252.3(MTM1):c.1209C>T (p.Phe403=)
|
rs782407568
|
0.00003
|
|
NM_000252.3(MTM1):c.1629C>T (p.Pro543=)
|
rs781856935
|
0.00003
|
|
NM_000252.3(MTM1):c.1779G>A (p.Ser593=)
|
rs782375296
|
0.00003
|
|
NM_000252.3(MTM1):c.445-17T>G
|
rs73250563
|
0.00003
|
|
NM_000252.3(MTM1):c.480C>T (p.Asn160=)
|
rs782480422
|
0.00003
|
|
NM_000252.3(MTM1):c.508G>C (p.Val170Leu)
|
rs782274835
|
0.00003
|
|
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu)
|
rs1408923946
|
0.00003
|
|
NM_000252.3(MTM1):c.64-9T>C
|
rs189752798
|
0.00003
|
|
NM_000252.3(MTM1):c.999A>G (p.Glu333=)
|
rs782302438
|
0.00003
|
|
NM_000377.3(WAS):c.133-18C>T
|
rs782578064
|
0.00003
|
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
|
NM_000377.3(WAS):c.463+14A>C
|
rs1338084492
|
0.00003
|
|
NM_000377.3(WAS):c.594G>A (p.Ala198=)
|
rs376545922
|
0.00003
|
|
NM_000377.3(WAS):c.912G>A (p.Arg304=)
|
rs782572275
|
0.00003
|
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
|
NM_000475.5(NR0B1):c.324G>A (p.Ser108=)
|
rs147442403
|
0.00003
|
|
NM_000489.6(ATRX):c.1350T>C (p.Cys450=)
|
rs782077373
|
0.00003
|
|
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)
|
rs1394070657
|
0.00003
|
|
NM_000489.6(ATRX):c.1880G>A (p.Cys627Tyr)
|
rs370584074
|
0.00003
|
|
NM_000489.6(ATRX):c.2001G>A (p.Pro667=)
|
rs139997330
|
0.00003
|
|
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile)
|
rs781797239
|
0.00003
|
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
|
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr)
|
rs1340328179
|
0.00003
|
|
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu)
|
rs782664370
|
0.00003
|
|
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg)
|
rs1411348345
|
0.00003
|
|
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn)
|
rs782629714
|
0.00003
|
|
NM_000489.6(ATRX):c.2623T>C (p.Ser875Pro)
|
rs370074271
|
0.00003
|
|
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met)
|
rs782757975
|
0.00003
|
|
NM_000489.6(ATRX):c.2730G>C (p.Lys910Asn)
|
rs1206627354
|
0.00003
|
|
NM_000489.6(ATRX):c.2753C>T (p.Thr918Ile)
|
rs782394785
|
0.00003
|
|
NM_000489.6(ATRX):c.2763C>T (p.Val921=)
|
rs782004945
|
0.00003
|
|
NM_000489.6(ATRX):c.3067G>C (p.Glu1023Gln)
|
rs367700285
|
0.00003
|
|
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly)
|
rs1064796745
|
0.00003
|
|
NM_000489.6(ATRX):c.3404G>C (p.Arg1135Thr)
|
rs781852987
|
0.00003
|
|
NM_000489.6(ATRX):c.3432A>C (p.Arg1144Ser)
|
rs781837522
|
0.00003
|
|
NM_000489.6(ATRX):c.3537C>T (p.Val1179=)
|
rs782800250
|
0.00003
|
|
NM_000489.6(ATRX):c.35A>G (p.Asn12Ser)
|
rs782399326
|
0.00003
|
|
NM_000489.6(ATRX):c.3759A>G (p.Ser1253=)
|
rs1165816018
|
0.00003
|
|
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=)
|
rs139540415
|
0.00003
|
|
NM_000489.6(ATRX):c.3943+8C>T
|
rs1557125060
|
0.00003
|
|
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly)
|
rs782464685
|
0.00003
|
|
NM_000489.6(ATRX):c.4210A>G (p.Thr1404Ala)
|
rs781835568
|
0.00003
|
|
NM_000489.6(ATRX):c.4215-6C>T
|
rs375091964
|
0.00003
|
|
NM_000489.6(ATRX):c.4366G>A (p.Glu1456Lys)
|
rs782646619
|
0.00003
|
|
NM_000489.6(ATRX):c.4392A>G (p.Glu1464=)
|
rs782637572
|
0.00003
|
|
NM_000489.6(ATRX):c.4557+19C>T
|
rs781857296
|
0.00003
|
|
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=)
|
rs781845474
|
0.00003
|
|
NM_000489.6(ATRX):c.5160A>G (p.Glu1720=)
|
rs782298274
|
0.00003
|
|
NM_000489.6(ATRX):c.5538C>T (p.Leu1846=)
|
rs782737091
|
0.00003
|
|
NM_000489.6(ATRX):c.5697+13A>C
|
rs782387510
|
0.00003
|
|
NM_000489.6(ATRX):c.5786+20G>A
|
rs782150691
|
0.00003
|
|
NM_000489.6(ATRX):c.5809G>A (p.Gly1937Arg)
|
rs782222942
|
0.00003
|
|
NM_000489.6(ATRX):c.595-17C>G
|
rs782473887
|
0.00003
|
|
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=)
|
rs782159753
|
0.00003
|
|
NM_000489.6(ATRX):c.6273T>C (p.Thr2091=)
|
rs1557069188
|
0.00003
|
|
NM_000489.6(ATRX):c.6327-16A>G
|
rs1457254023
|
0.00003
|
|
NM_000489.6(ATRX):c.6630T>C (p.Phe2210=)
|
rs147169853
|
0.00003
|
|
NM_000489.6(ATRX):c.6741C>T (p.His2247=)
|
rs1336936187
|
0.00003
|
|
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=)
|
rs782078102
|
0.00003
|
|
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)
|
rs782703242
|
0.00003
|
|
NM_000489.6(ATRX):c.738C>T (p.Arg246=)
|
rs781856746
|
0.00003
|
|
NM_000489.6(ATRX):c.96A>G (p.Thr32=)
|
rs199948087
|
0.00003
|
|
NM_001015877.2(PHF6):c.342A>C (p.Gln114His)
|
rs1303947958
|
0.00003
|
|
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)
|
rs751833365
|
0.00003
|
|
NM_001082486.1(ACD):c.179T>G (p.Leu60Arg)
|
rs753367228
|
0.00003
|
|
NM_001082486.1(ACD):c.27C>T (p.Ala9=)
|
rs780167082
|
0.00003
|
|
NM_001082486.2(ACD):c.1017C>T (p.Ser339=)
|
rs769298187
|
0.00003
|
|
NM_001082486.2(ACD):c.1077G>C (p.Gln359His)
|
rs200526158
|
0.00003
|
|
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu)
|
rs781117606
|
0.00003
|
|
NM_001082486.2(ACD):c.1269G>A (p.Thr423=)
|
rs751284994
|
0.00003
|
|
NM_001082486.2(ACD):c.242+13dup
|
rs774149870
|
0.00003
|
|
NM_001082486.2(ACD):c.255G>A (p.Glu85=)
|
rs146942923
|
0.00003
|
|
NM_001082486.2(ACD):c.337-14C>T
|
rs765992071
|
0.00003
|
|
NM_001082486.2(ACD):c.602C>T (p.Ala201Val)
|
rs777707916
|
0.00003
|
|
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser)
|
rs758700674
|
0.00003
|
|
NM_001082486.2(ACD):c.829+11G>A
|
rs778449742
|
0.00003
|
|
NM_001082486.2(ACD):c.891G>A (p.Leu297=)
|
rs1459307216
|
0.00003
|
|
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser)
|
rs1300291520
|
0.00003
|
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
|
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=)
|
rs886044869
|
0.00003
|
|
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=)
|
rs782598234
|
0.00003
|
|
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys)
|
rs367639317
|
0.00003
|
|
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln)
|
rs781915319
|
0.00003
|
|
NM_001110556.2(FLNA):c.1365C>T (p.Thr455=)
|
rs782726997
|
0.00003
|
|
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=)
|
rs781977506
|
0.00003
|
|
NM_001110556.2(FLNA):c.1440G>A (p.Pro480=)
|
rs781919163
|
0.00003
|
|
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)
|
rs782765195
|
0.00003
|
|
NM_001110556.2(FLNA):c.1609G>A (p.Val537Met)
|
rs782067087
|
0.00003
|
|
NM_001110556.2(FLNA):c.1683C>T (p.Ile561=)
|
rs782081769
|
0.00003
|
|
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser)
|
rs782580317
|
0.00003
|
|
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=)
|
rs782122510
|
0.00003
|
|
NM_001110556.2(FLNA):c.1756C>T (p.Leu586=)
|
rs368424270
|
0.00003
|
|
NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln)
|
rs781861830
|
0.00003
|
|
NM_001110556.2(FLNA):c.1932C>T (p.Ala644=)
|
rs1221420896
|
0.00003
|
|
NM_001110556.2(FLNA):c.2057G>A (p.Gly686Asp)
|
rs1360829798
|
0.00003
|
|
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr)
|
rs782158357
|
0.00003
|
|
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro)
|
rs781814342
|
0.00003
|
|
NM_001110556.2(FLNA):c.2405-5C>T
|
rs781892155
|
0.00003
|
|
NM_001110556.2(FLNA):c.2538C>T (p.Tyr846=)
|
rs782571710
|
0.00003
|
|
NM_001110556.2(FLNA):c.2541C>T (p.Thr847=)
|
rs782461822
|
0.00003
|
|
NM_001110556.2(FLNA):c.2565+12G>A
|
rs370481509
|
0.00003
|
|
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=)
|
rs188212919
|
0.00003
|
|
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu)
|
rs782140888
|
0.00003
|
|
NM_001110556.2(FLNA):c.2814G>A (p.Thr938=)
|
rs781944018
|
0.00003
|
|
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn)
|
rs375495397
|
0.00003
|
|
NM_001110556.2(FLNA):c.2943G>C (p.Glu981Asp)
|
rs782755538
|
0.00003
|
|
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val)
|
rs782099443
|
0.00003
|
|
NM_001110556.2(FLNA):c.3044C>T (p.Ala1015Val)
|
rs782322036
|
0.00003
|
|
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His)
|
rs782758177
|
0.00003
|
|
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu)
|
rs782614645
|
0.00003
|
|
NM_001110556.2(FLNA):c.3207+18G>A
|
rs376459013
|
0.00003
|
|
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu)
|
rs782406278
|
0.00003
|
|
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn)
|
rs782561908
|
0.00003
|
|
NM_001110556.2(FLNA):c.3246G>A (p.Ala1082=)
|
rs373036085
|
0.00003
|
|
NM_001110556.2(FLNA):c.3259C>T (p.Arg1087Cys)
|
rs782518956
|
0.00003
|
|
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=)
|
rs782374592
|
0.00003
|
|
NM_001110556.2(FLNA):c.333C>T (p.Leu111=)
|
rs782684723
|
0.00003
|
|
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala)
|
rs368441729
|
0.00003
|
|
NM_001110556.2(FLNA):c.3368C>G (p.Ser1123Cys)
|
rs782361719
|
0.00003
|
|
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr)
|
rs370202395
|
0.00003
|
|
NM_001110556.2(FLNA):c.3603G>A (p.Ala1201=)
|
rs371608258
|
0.00003
|
|
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile)
|
rs782495669
|
0.00003
|
|
NM_001110556.2(FLNA):c.3843C>T (p.Asp1281=)
|
rs367931067
|
0.00003
|
|
NM_001110556.2(FLNA):c.3865G>A (p.Gly1289Arg)
|
rs1557177623
|
0.00003
|
|
NM_001110556.2(FLNA):c.387C>T (p.Ile129=)
|
rs376726361
|
0.00003
|
|
NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His)
|
rs377505188
|
0.00003
|
|
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr)
|
rs782610314
|
0.00003
|
|
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr)
|
rs782746289
|
0.00003
|
|
NM_001110556.2(FLNA):c.3990C>T (p.Ser1330=)
|
rs373659455
|
0.00003
|
|
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile)
|
rs376774130
|
0.00003
|
|
NM_001110556.2(FLNA):c.4154C>T (p.Thr1385Met)
|
rs1273044438
|
0.00003
|
|
NM_001110556.2(FLNA):c.4188C>T (p.Ser1396=)
|
rs781927602
|
0.00003
|
|
NM_001110556.2(FLNA):c.4221C>T (p.Asp1407=)
|
rs372110377
|
0.00003
|
|
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=)
|
rs782653215
|
0.00003
|
|
NM_001110556.2(FLNA):c.4303+14G>A
|
rs782684701
|
0.00003
|
|
NM_001110556.2(FLNA):c.4344G>A (p.Ala1448=)
|
rs782529594
|
0.00003
|
|
NM_001110556.2(FLNA):c.4474+3G>A
|
rs1286863443
|
0.00003
|
|
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala)
|
rs781972123
|
0.00003
|
|
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile)
|
rs797045579
|
0.00003
|
|
NM_001110556.2(FLNA):c.4540A>G (p.Ser1514Gly)
|
rs1259214889
|
0.00003
|
|
NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn)
|
rs782537273
|
0.00003
|
|
NM_001110556.2(FLNA):c.4593C>G (p.Pro1531=)
|
rs1370712483
|
0.00003
|
|
NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp)
|
rs782563345
|
0.00003
|
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
|
NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val)
|
rs781870374
|
0.00003
|
|
NM_001110556.2(FLNA):c.4833C>T (p.Asp1611=)
|
rs1444219497
|
0.00003
|
|
NM_001110556.2(FLNA):c.4911G>A (p.Val1637=)
|
rs2067671791
|
0.00003
|
|
NM_001110556.2(FLNA):c.4945+13G>A
|
rs782535653
|
0.00003
|
|
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala)
|
rs782469665
|
0.00003
|
|
NM_001110556.2(FLNA):c.5062G>A (p.Val1688Met)
|
rs782751731
|
0.00003
|
|
NM_001110556.2(FLNA):c.5097C>T (p.Asp1699=)
|
rs781938750
|
0.00003
|
|
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=)
|
rs782460018
|
0.00003
|
|
NM_001110556.2(FLNA):c.5219C>T (p.Ala1740Val)
|
rs782714867
|
0.00003
|
|
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
|
rs368750879
|
0.00003
|
|
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln)
|
rs782134110
|
0.00003
|
|
NM_001110556.2(FLNA):c.5475C>T (p.Asp1825=)
|
rs1057521451
|
0.00003
|
|
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile)
|
rs781809353
|
0.00003
|
|
NM_001110556.2(FLNA):c.5613T>C (p.Tyr1871=)
|
rs782317244
|
0.00003
|
|
NM_001110556.2(FLNA):c.5724A>G (p.Ala1908=)
|
rs1016154460
|
0.00003
|
|
NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile)
|
rs373682131
|
0.00003
|
|
NM_001110556.2(FLNA):c.5876G>A (p.Arg1959His)
|
rs1198953814
|
0.00003
|
|
NM_001110556.2(FLNA):c.5884C>T (p.His1962Tyr)
|
rs782660265
|
0.00003
|
|
NM_001110556.2(FLNA):c.592C>T (p.Leu198=)
|
rs781818080
|
0.00003
|
|
NM_001110556.2(FLNA):c.5951C>T (p.Thr1984Met)
|
rs782639698
|
0.00003
|
|
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=)
|
rs782787843
|
0.00003
|
|
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp)
|
rs371616686
|
0.00003
|
|
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp)
|
rs782160183
|
0.00003
|
|
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=)
|
rs782221205
|
0.00003
|
|
NM_001110556.2(FLNA):c.6117C>A (p.Ile2039=)
|
rs782512482
|
0.00003
|
|
NM_001110556.2(FLNA):c.6197C>T (p.Ala2066Val)
|
rs2067633292
|
0.00003
|
|
NM_001110556.2(FLNA):c.6217C>T (p.Arg2073Cys)
|
rs782069230
|
0.00003
|
|
NM_001110556.2(FLNA):c.6220G>A (p.Asp2074Asn)
|
rs371611462
|
0.00003
|
|
NM_001110556.2(FLNA):c.627G>A (p.Leu209=)
|
rs782118838
|
0.00003
|
|
NM_001110556.2(FLNA):c.6363C>T (p.Ala2121=)
|
rs782107005
|
0.00003
|
|
NM_001110556.2(FLNA):c.6380-17G>A
|
rs200764111
|
0.00003
|
|
NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln)
|
rs201932105
|
0.00003
|
|
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile)
|
rs367655833
|
0.00003
|
|
NM_001110556.2(FLNA):c.6481G>A (p.Asp2161Asn)
|
rs782477734
|
0.00003
|
|
NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His)
|
rs368547421
|
0.00003
|
|
NM_001110556.2(FLNA):c.6639C>T (p.Ser2213=)
|
rs1358869497
|
0.00003
|
|
NM_001110556.2(FLNA):c.6770-13T>C
|
rs782097595
|
0.00003
|
|
NM_001110556.2(FLNA):c.6846G>A (p.Glu2282=)
|
rs781972193
|
0.00003
|
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
|
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)
|
rs797044739
|
0.00003
|
|
NM_001110556.2(FLNA):c.6908-16C>T
|
rs782815909
|
0.00003
|
|
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys)
|
rs781984348
|
0.00003
|
|
NM_001110556.2(FLNA):c.7059T>G (p.Phe2353Leu)
|
rs864622713
|
0.00003
|
|
NM_001110556.2(FLNA):c.7333+11C>T
|
rs781878852
|
0.00003
|
|
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=)
|
rs782225826
|
0.00003
|
|
NM_001110556.2(FLNA):c.7353C>T (p.Val2451=)
|
rs1057521797
|
0.00003
|
|
NM_001110556.2(FLNA):c.7530C>T (p.Ser2510=)
|
rs782602947
|
0.00003
|
|
NM_001110556.2(FLNA):c.7553-10T>C
|
rs782156724
|
0.00003
|
|
NM_001110556.2(FLNA):c.759C>T (p.Asp253=)
|
rs782701643
|
0.00003
|
|
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu)
|
rs371724771
|
0.00003
|
|
NM_001110556.2(FLNA):c.7656T>A (p.Pro2552=)
|
rs367666924
|
0.00003
|
|
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp)
|
rs781864075
|
0.00003
|
|
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met)
|
rs369791082
|
0.00003
|
|
NM_001110556.2(FLNA):c.7848G>C (p.Val2616=)
|
rs782691688
|
0.00003
|
|
NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=)
|
rs782774918
|
0.00003
|
|
NM_001110556.2(FLNA):c.7902C>T (p.Asp2634=)
|
rs372375216
|
0.00003
|
|
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln)
|
rs782157170
|
0.00003
|
|
NM_001110556.2(FLNA):c.868+19G>A
|
rs782354307
|
0.00003
|
|
NM_001110556.2(FLNA):c.957C>T (p.Tyr319=)
|
rs373561030
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=)
|
rs374511542
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.1849C>T (p.Arg617Cys)
|
rs1556863213
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=)
|
rs782547252
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2018G>A (p.Ser673Asn)
|
rs782244422
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2297+13C>T
|
rs782625023
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu)
|
rs1057518272
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.24G>A (p.Pro8=)
|
rs1556880350
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2514G>T (p.Arg838=)
|
rs1167090163
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2534G>A (p.Arg845Gln)
|
rs1556862441
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=)
|
rs377545286
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.2889+10T>C
|
rs1057523665
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=)
|
rs199643273
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3501+7G>T
|
rs1221336765
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile)
|
rs1193003776
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=)
|
rs797045629
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3825G>A (p.Pro1275=)
|
rs1057523277
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.3970G>A (p.Ala1324Thr)
|
rs1057521942
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln)
|
rs1449945045
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.4204G>A (p.Ala1402Thr)
|
rs1085307636
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.4288C>A (p.Pro1430Thr)
|
rs1232612010
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.531G>C (p.Pro177=)
|
rs1198105155
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.560G>A (p.Gly187Asp)
|
rs886044891
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.770G>A (p.Ser257Asn)
|
rs1470379713
|
0.00003
|
|
NM_001111125.3(IQSEC2):c.957A>G (p.Leu319=)
|
rs782803496
|
0.00003
|
|
NM_001159699.2(FHL1):c.248G>A (p.Arg83His)
|
rs745544703
|
0.00003
|
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
|
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)
|
rs756434530
|
0.00003
|
|
NM_001159699.2(FHL1):c.379+4C>T
|
rs769453769
|
0.00003
|
|
NM_001159699.2(FHL1):c.549+7T>G
|
rs771700018
|
0.00003
|
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
|
NM_001159699.2(FHL1):c.816C>T (p.Ser272=)
|
rs758552293
|
0.00003
|
|
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu)
|
rs749265329
|
0.00003
|
|
NM_001159699.2(FHL1):c.834G>A (p.Lys278=)
|
rs200510559
|
0.00003
|
|
NM_001167.4(XIAP):c.1057-7G>A
|
rs753427928
|
0.00003
|
|
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)
|
rs377097035
|
0.00003
|
|
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
|
rs772035642
|
0.00003
|
|
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg)
|
rs753415949
|
0.00003
|
|
NM_001167.4(XIAP):c.368G>A (p.Ser123Asn)
|
rs368343771
|
0.00003
|
|
NM_001167.4(XIAP):c.870T>C (p.Tyr290=)
|
rs770461720
|
0.00003
|
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
|
NM_001184880.2(PCDH19):c.2125G>C (p.Glu709Gln)
|
rs983417935
|
0.00003
|
|
NM_001184880.2(PCDH19):c.2417C>T (p.Ser806Phe)
|
rs756871980
|
0.00003
|
|
NM_001184880.2(PCDH19):c.2564G>A (p.Ser855Asn)
|
rs796052824
|
0.00003
|
|
NM_001184880.2(PCDH19):c.2849-13T>C
|
rs758872425
|
0.00003
|
|
NM_001184880.2(PCDH19):c.3157C>T (p.Arg1053Trp)
|
rs774986147
|
0.00003
|
|
NM_001184880.2(PCDH19):c.3354C>T (p.Ser1118=)
|
rs753986660
|
0.00003
|
|
NM_001184880.2(PCDH19):c.482T>C (p.Phe161Ser)
|
rs371028786
|
0.00003
|
|
NM_001184880.2(PCDH19):c.51G>A (p.Thr17=)
|
rs756958731
|
0.00003
|
|
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg)
|
rs796052803
|
0.00003
|
|
NM_001184880.2(PCDH19):c.543C>A (p.Arg181=)
|
rs780266148
|
0.00003
|
|
NM_001184880.2(PCDH19):c.631C>T (p.Leu211=)
|
rs771523465
|
0.00003
|
|
NM_001184880.2(PCDH19):c.77A>T (p.Lys26Met)
|
rs755403368
|
0.00003
|
|
NM_001184880.2(PCDH19):c.846C>T (p.Asn282=)
|
rs750813033
|
0.00003
|
|
NM_001184880.2(PCDH19):c.922G>A (p.Glu308Lys)
|
rs775309866
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1017C>T (p.Tyr339=)
|
rs782314375
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.1490A>G (p.Gln497Arg)
|
rs371200226
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.261G>T (p.Gln87His)
|
rs373001354
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=)
|
rs782187939
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.583-18T>G
|
rs1057521815
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.732T>A (p.Gly244=)
|
rs1322872780
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.924G>A (p.Gln308=)
|
rs1556358973
|
0.00003
|
|
NM_001353921.2(ARHGEF9):c.949G>A (p.Glu317Lys)
|
rs782166488
|
0.00003
|
|
NM_001375834.1(WIPF1):c.100A>G (p.Asn34Asp)
|
rs373043385
|
0.00003
|
|
NM_001375834.1(WIPF1):c.1453C>T (p.Arg485Trp)
|
rs1041727019
|
0.00003
|
|
NM_001375834.1(WIPF1):c.258C>T (p.Gly86=)
|
rs781522403
|
0.00003
|
|
NM_001375834.1(WIPF1):c.33G>A (p.Pro11=)
|
rs775206272
|
0.00003
|
|
NM_001375834.1(WIPF1):c.51G>A (p.Leu17=)
|
rs535169609
|
0.00003
|
|
NM_001399.5(EDA):c.1014G>A (p.Thr338=)
|
rs750674219
|
0.00003
|
|
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)
|
rs397516654
|
0.00003
|
|
NM_001399.5(EDA):c.1098C>T (p.His366=)
|
rs1322090620
|
0.00003
|
|
NM_001399.5(EDA):c.111G>A (p.Gly37=)
|
rs1301485954
|
0.00003
|
|
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg)
|
rs750739438
|
0.00003
|
|
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr)
|
rs746523921
|
0.00003
|
|
NM_001399.5(EDA):c.242C>T (p.Ser81Leu)
|
rs780456712
|
0.00003
|
|
NM_001399.5(EDA):c.277C>T (p.Leu93Phe)
|
rs746479442
|
0.00003
|
|
NM_001399.5(EDA):c.345A>G (p.Pro115=)
|
rs775366784
|
0.00003
|
|
NM_001399.5(EDA):c.371A>G (p.His124Arg)
|
rs751470511
|
0.00003
|
|
NM_001399.5(EDA):c.503-8T>C
|
rs752434802
|
0.00003
|
|
NM_001399.5(EDA):c.56A>C (p.Glu19Ala)
|
rs752730106
|
0.00003
|
|
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)
|
rs954824608
|
0.00003
|
|
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=)
|
rs773807871
|
0.00003
|
|
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=)
|
rs750203223
|
0.00003
|
|
NM_005120.3(MED12):c.1486-8T>C
|
rs1202454929
|
0.00003
|
|
NM_005120.3(MED12):c.1619G>A (p.Arg540His)
|
rs774363039
|
0.00003
|
|
NM_005120.3(MED12):c.1659C>T (p.Ile553=)
|
rs763388314
|
0.00003
|
|
NM_005120.3(MED12):c.1794G>A (p.Leu598=)
|
rs776762599
|
0.00003
|
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
|
NM_005120.3(MED12):c.2395C>T (p.Leu799=)
|
rs1280842063
|
0.00003
|
|
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala)
|
rs752847512
|
0.00003
|
|
NM_005120.3(MED12):c.2484T>C (p.Asp828=)
|
rs781733323
|
0.00003
|
|
NM_005120.3(MED12):c.2542-5A>G
|
rs777247768
|
0.00003
|
|
NM_005120.3(MED12):c.2748C>A (p.Gly916=)
|
rs768686458
|
0.00003
|
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
|
NM_005120.3(MED12):c.2895C>T (p.Ser965=)
|
rs1060504496
|
0.00003
|
|
NM_005120.3(MED12):c.3012C>T (p.Ile1004=)
|
rs775829185
|
0.00003
|
|
NM_005120.3(MED12):c.3333C>T (p.Asn1111=)
|
rs781289776
|
0.00003
|
|
NM_005120.3(MED12):c.3381G>T (p.Ser1127=)
|
rs369946933
|
0.00003
|
|
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln)
|
rs1388327076
|
0.00003
|
|
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly)
|
rs766827969
|
0.00003
|
|
NM_005120.3(MED12):c.4146C>T (p.Ile1382=)
|
rs923552252
|
0.00003
|
|
NM_005120.3(MED12):c.4232G>A (p.Ser1411Asn)
|
rs761320689
|
0.00003
|
|
NM_005120.3(MED12):c.448A>G (p.Thr150Ala)
|
rs758980420
|
0.00003
|
|
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)
|
rs962560401
|
0.00003
|
|
NM_005120.3(MED12):c.5316G>A (p.Pro1772=)
|
rs398124199
|
0.00003
|
|
NM_005120.3(MED12):c.5778T>C (p.Ser1926=)
|
rs758530859
|
0.00003
|
|
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser)
|
rs1195178209
|
0.00003
|
|
NM_005120.3(MED12):c.6168A>G (p.Gln2056=)
|
rs745565325
|
0.00003
|
|
NM_005120.3(MED12):c.6291G>A (p.Gln2097=)
|
rs756285149
|
0.00003
|
|
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)
|
rs755793630
|
0.00003
|
|
NM_005120.3(MED12):c.6465C>T (p.Val2155=)
|
rs764620745
|
0.00003
|
|
NM_005120.3(MED12):c.735+19T>C
|
rs369585015
|
0.00003
|
|
NM_005120.3(MED12):c.927G>A (p.Leu309=)
|
rs957824537
|
0.00003
|
|
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
|
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg)
|
rs1439756712
|
0.00003
|
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
|
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
|
rs201491358
|
0.00003
|
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
|
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His)
|
rs111385795
|
0.00003
|
|
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
|
rs371874117
|
0.00003
|
|
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
|
rs1252960661
|
0.00003
|
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
|
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=)
|
rs782368009
|
0.00003
|
|
NM_005334.3(HCFC1):c.5379+20G>A
|
rs371712410
|
0.00003
|
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
|
NM_005391.5(PDK3):c.1137T>C (p.His379=)
|
rs201109489
|
0.00003
|
|
NM_005391.5(PDK3):c.204G>A (p.Pro68=)
|
rs201536570
|
0.00003
|
|
NM_005391.5(PDK3):c.595+12G>A
|
rs372395777
|
0.00003
|
|
NM_005391.5(PDK3):c.596-7C>T
|
rs761112580
|
0.00003
|
|
NM_005765.3(ATP6AP2):c.300+19A>C
|
rs763279174
|
0.00003
|
|
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His)
|
rs184634552
|
0.00003
|
|
NM_006950.3(SYN1):c.1493C>T (p.Pro498Leu)
|
rs1198466921
|
0.00003
|
|
NM_006950.3(SYN1):c.430G>A (p.Glu144Lys)
|
rs771860069
|
0.00003
|
|
NM_006950.3(SYN1):c.540G>A (p.Pro180=)
|
rs769771865
|
0.00003
|
|
NM_006950.3(SYN1):c.580C>T (p.Arg194Cys)
|
rs138985151
|
0.00003
|
|
NM_006950.3(SYN1):c.585C>T (p.Asn195=)
|
rs746025499
|
0.00003
|
|
NM_006950.3(SYN1):c.678C>T (p.Pro226=)
|
rs1331758208
|
0.00003
|
|
NM_006950.3(SYN1):c.789G>A (p.Thr263=)
|
rs754541700
|
0.00003
|
|
NM_006950.3(SYN1):c.838-12G>A
|
rs373591101
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=)
|
rs774643586
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=)
|
rs755391148
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.167+9C>T
|
rs746318308
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.324G>A (p.Glu108=)
|
rs372929200
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.488-17C>T
|
rs367846813
|
0.00003
|
|
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)
|
rs753387074
|
0.00003
|
|
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala)
|
rs367553852
|
0.00003
|
|
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met)
|
rs375759945
|
0.00003
|
|
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg)
|
rs770223898
|
0.00003
|
|
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser)
|
rs757797519
|
0.00003
|
|
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met)
|
rs749431578
|
0.00003
|
|
NM_031206.7(LAS1L):c.132C>T (p.Ala44=)
|
rs377215853
|
0.00003
|
|
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met)
|
rs145338657
|
0.00003
|
|
NM_080632.3(UPF3B):c.105G>A (p.Lys35=)
|
rs143487370
|
0.00003
|
|
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile)
|
rs201833722
|
0.00003
|
|
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)
|
rs754982440
|
0.00003
|
|
NM_080632.3(UPF3B):c.883T>C (p.Leu295=)
|
rs755087452
|
0.00003
|
|
NM_139058.3(ARX):c.1326G>A (p.Pro442=)
|
rs774538294
|
0.00003
|
|
NM_139058.3(ARX):c.1463T>C (p.Met488Thr)
|
rs759074085
|
0.00003
|
|
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser)
|
rs766065019
|
0.00003
|
|
NM_139058.3(ARX):c.166A>G (p.Ser56Gly)
|
rs144098296
|
0.00003
|
|
NM_139058.3(ARX):c.1674C>A (p.Gly558=)
|
rs888094094
|
0.00003
|
|
NM_139058.3(ARX):c.196+14C>G
|
rs377487471
|
0.00003
|
|
NM_139058.3(ARX):c.327G>A (p.Ala109=)
|
rs1340239089
|
0.00003
|
|
NM_139058.3(ARX):c.455C>G (p.Ala152Gly)
|
rs1184388194
|
0.00003
|
|
NM_139058.3(ARX):c.664G>A (p.Gly222Ser)
|
rs1183516776
|
0.00003
|
|
NM_139058.3(ARX):c.776T>C (p.Leu259Pro)
|
rs774291500
|
0.00003
|
|
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly)
|
rs1557054156
|
0.00002
|
|
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=)
|
rs782095899
|
0.00002
|
|
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=)
|
rs727503786
|
0.00002
|
|
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=)
|
rs375656638
|
0.00002
|
|
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr)
|
rs782647014
|
0.00002
|
|
NM_000033.4(ABCD1):c.1413A>G (p.Glu471=)
|
rs782035584
|
0.00002
|
|
NM_000033.4(ABCD1):c.1467G>A (p.Val489=)
|
rs782516659
|
0.00002
|
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
|
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=)
|
rs782278443
|
0.00002
|
|
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=)
|
rs200718788
|
0.00002
|
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
|
NM_000033.4(ABCD1):c.1761C>T (p.His587=)
|
rs1306734070
|
0.00002
|
|
NM_000033.4(ABCD1):c.1781-6G>A
|
rs1427008949
|
0.00002
|
|
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly)
|
rs782065134
|
0.00002
|
|
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=)
|
rs782618093
|
0.00002
|
|
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=)
|
rs367901575
|
0.00002
|
|
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=)
|
rs74315281
|
0.00002
|
|
NM_000033.4(ABCD1):c.1992-15C>T
|
rs782734602
|
0.00002
|
|
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=)
|
rs782468372
|
0.00002
|
|
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile)
|
rs782701925
|
0.00002
|
|
NM_000033.4(ABCD1):c.2181G>A (p.Ala727=)
|
rs375376269
|
0.00002
|
|
NM_000033.4(ABCD1):c.321G>A (p.Leu107=)
|
rs375790297
|
0.00002
|
|
NM_000033.4(ABCD1):c.36G>A (p.Gly12=)
|
rs1411271062
|
0.00002
|
|
NM_000033.4(ABCD1):c.381G>A (p.Pro127=)
|
rs782672983
|
0.00002
|
|
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp)
|
rs782359412
|
0.00002
|
|
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys)
|
rs1557052334
|
0.00002
|
|
NM_000033.4(ABCD1):c.477C>T (p.Ala159=)
|
rs782481544
|
0.00002
|
|
NM_000033.4(ABCD1):c.515G>A (p.Arg172His)
|
rs541171928
|
0.00002
|
|
NM_000033.4(ABCD1):c.549C>T (p.Val183=)
|
rs1169791916
|
0.00002
|
|
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)
|
rs1204814114
|
0.00002
|
|
NM_000033.4(ABCD1):c.795C>T (p.Phe265=)
|
rs782336092
|
0.00002
|
|
NM_000033.4(ABCD1):c.819G>A (p.Ala273=)
|
rs782165410
|
0.00002
|
|
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
|
NM_000033.4(ABCD1):c.901-4G>A
|
rs782306934
|
0.00002
|
|
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys)
|
rs782419107
|
0.00002
|
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
|
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser)
|
rs1557231883
|
0.00002
|
|
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)
|
rs1557229686
|
0.00002
|
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
|
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser)
|
rs879981699
|
0.00002
|
|
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn)
|
rs782083382
|
0.00002
|
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
|
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=)
|
rs375479026
|
0.00002
|
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00002
|
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
|
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val)
|
rs781961626
|
0.00002
|
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
|
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp)
|
rs782761381
|
0.00002
|
|
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met)
|
rs782269377
|
0.00002
|
|
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys)
|
rs782555092
|
0.00002
|
|
NM_000052.7(ATP7A):c.2173-7A>T
|
rs376179410
|
0.00002
|
|
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=)
|
rs572956005
|
0.00002
|
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
|
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=)
|
rs1473914623
|
0.00002
|
|
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=)
|
rs1445955792
|
0.00002
|
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
|
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=)
|
rs782315761
|
0.00002
|
|
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg)
|
rs1264242478
|
0.00002
|
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
|
NM_000052.7(ATP7A):c.2916+10T>G
|
rs2077902893
|
0.00002
|
|
NM_000052.7(ATP7A):c.2917-9C>T
|
rs188421674
|
0.00002
|
|
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)
|
rs782094358
|
0.00002
|
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
|
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val)
|
rs782463394
|
0.00002
|
|
NM_000052.7(ATP7A):c.3294+5A>C
|
rs370596012
|
0.00002
|
|
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly)
|
rs781914030
|
0.00002
|
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
|
NM_000052.7(ATP7A):c.4006-7T>C
|
rs1406270253
|
0.00002
|
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
|
NM_000052.7(ATP7A):c.4124-17C>T
|
rs371435031
|
0.00002
|
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
|
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr)
|
rs781838499
|
0.00002
|
|
NM_000052.7(ATP7A):c.588G>A (p.Leu196=)
|
rs782253237
|
0.00002
|
|
NM_000052.7(ATP7A):c.611-7T>C
|
rs781898993
|
0.00002
|
|
NM_000052.7(ATP7A):c.6T>C (p.Asp2=)
|
rs951178780
|
0.00002
|
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
|
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His)
|
rs1557231780
|
0.00002
|
|
NM_000052.7(ATP7A):c.840T>G (p.Thr280=)
|
rs782713333
|
0.00002
|
|
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
|
rs372389715
|
0.00002
|
|
NM_000074.3(CD40LG):c.379A>G (p.Ile127Val)
|
rs1052924444
|
0.00002
|
|
NM_000074.3(CD40LG):c.409+12A>G
|
rs759260732
|
0.00002
|
|
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu)
|
rs371041193
|
0.00002
|
|
NM_000117.3(EMD):c.137G>A (p.Arg46Gln)
|
rs941514119
|
0.00002
|
|
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)
|
rs781936763
|
0.00002
|
|
NM_000117.3(EMD):c.188-13C>T
|
rs782141516
|
0.00002
|
|
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)
|
rs141138209
|
0.00002
|
|
NM_000117.3(EMD):c.276C>T (p.Asp92=)
|
rs782680849
|
0.00002
|
|
NM_000117.3(EMD):c.333C>T (p.Ala111=)
|
rs782216150
|
0.00002
|
|
NM_000117.3(EMD):c.353G>A (p.Arg118His)
|
rs782201984
|
0.00002
|
|
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)
|
rs1262954618
|
0.00002
|
|
NM_000117.3(EMD):c.449+10G>C
|
rs782467790
|
0.00002
|
|
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
|
rs782244432
|
0.00002
|
|
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)
|
rs782299893
|
0.00002
|
|
NM_000117.3(EMD):c.611G>A (p.Arg204His)
|
rs782642152
|
0.00002
|
|
NM_000117.3(EMD):c.618C>T (p.Ile206=)
|
rs782496874
|
0.00002
|
|
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)
|
rs782057378
|
0.00002
|
|
NM_000117.3(EMD):c.704T>C (p.Phe235Ser)
|
rs782627156
|
0.00002
|
|
NM_000117.3(EMD):c.717C>T (p.Leu239=)
|
rs782369799
|
0.00002
|
|
NM_000117.3(EMD):c.82+17G>A
|
rs1198190299
|
0.00002
|
|
NM_000240.4(MAOA):c.1052+14G>A
|
rs113551306
|
0.00002
|
|
NM_000240.4(MAOA):c.1262+7C>T
|
rs773216160
|
0.00002
|
|
NM_000240.4(MAOA):c.255C>G (p.Gly85=)
|
rs1601935224
|
0.00002
|
|
NM_000240.4(MAOA):c.30G>A (p.Ala10=)
|
rs1347324620
|
0.00002
|
|
NM_000240.4(MAOA):c.402G>A (p.Met134Ile)
|
rs771740634
|
0.00002
|
|
NM_000240.4(MAOA):c.482T>C (p.Ile161Thr)
|
rs574432879
|
0.00002
|
|
NM_000240.4(MAOA):c.681C>T (p.Ser227=)
|
rs758225239
|
0.00002
|
|
NM_000240.4(MAOA):c.703G>A (p.Gly235Arg)
|
rs368201051
|
0.00002
|
|
NM_000240.4(MAOA):c.739G>A (p.Val247Ile)
|
rs777420059
|
0.00002
|
|
NM_000240.4(MAOA):c.890G>A (p.Arg297Gln)
|
rs780647851
|
0.00002
|
|
NM_000252.3(MTM1):c.1077A>G (p.Gln359=)
|
rs1299457466
|
0.00002
|
|
NM_000252.3(MTM1):c.1188C>T (p.Phe396=)
|
rs370366538
|
0.00002
|
|
NM_000252.3(MTM1):c.1560A>G (p.Arg520=)
|
rs138946055
|
0.00002
|
|
NM_000252.3(MTM1):c.1645-8C>T
|
rs782348896
|
0.00002
|
|
NM_000252.3(MTM1):c.1692C>T (p.Arg564=)
|
rs1557415136
|
0.00002
|
|
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val)
|
rs587783807
|
0.00002
|
|
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg)
|
rs1347335331
|
0.00002
|
|
NM_000252.3(MTM1):c.1758A>G (p.Pro586=)
|
rs1454805516
|
0.00002
|
|
NM_000252.3(MTM1):c.175A>G (p.Ile59Val)
|
rs782451760
|
0.00002
|
|
NM_000252.3(MTM1):c.206G>A (p.Arg69His)
|
rs782277980
|
0.00002
|
|
NM_000252.3(MTM1):c.233A>T (p.Asp78Val)
|
rs782215492
|
0.00002
|
|
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr)
|
rs199821243
|
0.00002
|
|
NM_000252.3(MTM1):c.297G>A (p.Ala99=)
|
rs781784303
|
0.00002
|
|
NM_000252.3(MTM1):c.51G>A (p.Glu17=)
|
rs148455726
|
0.00002
|
|
NM_000252.3(MTM1):c.528+7T>C
|
rs782460237
|
0.00002
|
|
NM_000252.3(MTM1):c.741C>T (p.Val247=)
|
rs374360983
|
0.00002
|
|
NM_000252.3(MTM1):c.813T>C (p.Ile271=)
|
rs1224173755
|
0.00002
|
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
0.00002
|
|
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln)
|
rs1286831963
|
0.00002
|
|
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys)
|
rs1257775061
|
0.00002
|
|
NM_000377.3(WAS):c.1218C>T (p.Ser406=)
|
rs370053372
|
0.00002
|
|
NM_000377.3(WAS):c.1245C>T (p.Leu415=)
|
rs1557007301
|
0.00002
|
|
NM_000377.3(WAS):c.1253C>T (p.Ala418Val)
|
rs781903491
|
0.00002
|
|
NM_000377.3(WAS):c.1266C>T (p.Ala422=)
|
rs782041815
|
0.00002
|
|
NM_000377.3(WAS):c.1476C>T (p.Gly492=)
|
rs1161895393
|
0.00002
|
|
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn)
|
rs781790075
|
0.00002
|
|
NM_000377.3(WAS):c.16A>G (p.Met6Val)
|
rs782730988
|
0.00002
|
|
NM_000377.3(WAS):c.249C>T (p.Tyr83=)
|
rs368151220
|
0.00002
|
|
NM_000377.3(WAS):c.273+15C>T
|
rs1286865928
|
0.00002
|
|
NM_000377.3(WAS):c.274-4C>T
|
rs782527416
|
0.00002
|
|
NM_000377.3(WAS):c.390C>T (p.Asp130=)
|
rs782593697
|
0.00002
|
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
|
NM_000377.3(WAS):c.575C>T (p.Pro192Leu)
|
rs782745511
|
0.00002
|
|
NM_000377.3(WAS):c.679C>T (p.Arg227Cys)
|
rs1395882218
|
0.00002
|
|
NM_000377.3(WAS):c.802C>T (p.Arg268Trp)
|
rs782149318
|
0.00002
|
|
NM_000377.3(WAS):c.975G>C (p.Gln325His)
|
rs930931192
|
0.00002
|
|
NM_000377.3(WAS):c.999G>A (p.Gly333=)
|
rs369654974
|
0.00002
|
|
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala)
|
rs777276628
|
0.00002
|
|
NM_000489.6(ATRX):c.1002C>G (p.Ser334=)
|
rs1343658181
|
0.00002
|
|
NM_000489.6(ATRX):c.1071A>G (p.Lys357=)
|
rs1557142379
|
0.00002
|
|
NM_000489.6(ATRX):c.1130C>T (p.Ala377Val)
|
rs781955237
|
0.00002
|
|
NM_000489.6(ATRX):c.114T>G (p.Leu38=)
|
rs201353033
|
0.00002
|
|
NM_000489.6(ATRX):c.1192G>C (p.Val398Leu)
|
rs1436524317
|
0.00002
|
|
NM_000489.6(ATRX):c.1257G>A (p.Ala419=)
|
rs185550133
|
0.00002
|
|
NM_000489.6(ATRX):c.1262A>G (p.Asp421Gly)
|
rs782817063
|
0.00002
|
|
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)
|
rs1557141862
|
0.00002
|
|
NM_000489.6(ATRX):c.1411A>G (p.Ser471Gly)
|
rs781841113
|
0.00002
|
|
NM_000489.6(ATRX):c.1437A>G (p.Pro479=)
|
rs1557141681
|
0.00002
|
|
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln)
|
rs782128777
|
0.00002
|
|
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp)
|
rs886044778
|
0.00002
|
|
NM_000489.6(ATRX):c.1468G>A (p.Gly490Ser)
|
rs1378005125
|
0.00002
|
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
|
NM_000489.6(ATRX):c.1529C>G (p.Ser510Cys)
|
rs782395967
|
0.00002
|
|
NM_000489.6(ATRX):c.1561C>G (p.Pro521Ala)
|
rs782314240
|
0.00002
|
|
NM_000489.6(ATRX):c.1666G>A (p.Val556Met)
|
rs782001042
|
0.00002
|
|
NM_000489.6(ATRX):c.1758A>G (p.Leu586=)
|
rs781987630
|
0.00002
|
|
NM_000489.6(ATRX):c.2010T>C (p.Thr670=)
|
rs1398783862
|
0.00002
|
|
NM_000489.6(ATRX):c.2073A>G (p.Leu691=)
|
rs782395054
|
0.00002
|
|
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr)
|
rs781967738
|
0.00002
|
|
NM_000489.6(ATRX):c.21-4A>G
|
rs1197209284
|
0.00002
|
|
NM_000489.6(ATRX):c.2122A>G (p.Ile708Val)
|
rs375900706
|
0.00002
|
|
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala)
|
rs960922907
|
0.00002
|
|
NM_000489.6(ATRX):c.2212C>G (p.Leu738Val)
|
rs782470087
|
0.00002
|
|
NM_000489.6(ATRX):c.222A>G (p.Ser74=)
|
rs782427200
|
0.00002
|
|
NM_000489.6(ATRX):c.2255C>T (p.Thr752Ile)
|
rs1557140024
|
0.00002
|
|
NM_000489.6(ATRX):c.2273A>G (p.His758Arg)
|
rs782601904
|
0.00002
|
|
NM_000489.6(ATRX):c.2385C>G (p.Gly795=)
|
rs1039484052
|
0.00002
|
|
NM_000489.6(ATRX):c.243-4A>T
|
rs782131289
|
0.00002
|
|
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser)
|
rs782196312
|
0.00002
|
|
NM_000489.6(ATRX):c.2658G>C (p.Glu886Asp)
|
rs141180098
|
0.00002
|
|
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu)
|
rs782016225
|
0.00002
|
|
NM_000489.6(ATRX):c.2742A>G (p.Ala914=)
|
rs1488470934
|
0.00002
|
|
NM_000489.6(ATRX):c.2815G>C (p.Val939Leu)
|
rs149195735
|
0.00002
|
|
NM_000489.6(ATRX):c.2898G>T (p.Glu966Asp)
|
rs138256318
|
0.00002
|
|
NM_000489.6(ATRX):c.2901A>G (p.Lys967=)
|
rs782680197
|
0.00002
|
|
NM_000489.6(ATRX):c.2907A>C (p.Leu969=)
|
rs782330959
|
0.00002
|
|
NM_000489.6(ATRX):c.291T>G (p.Pro97=)
|
rs1448338171
|
0.00002
|
|
NM_000489.6(ATRX):c.2953A>G (p.Ser985Gly)
|
rs782424160
|
0.00002
|
|
NM_000489.6(ATRX):c.3133A>G (p.Lys1045Glu)
|
rs1332447363
|
0.00002
|
|
NM_000489.6(ATRX):c.3228T>A (p.Ser1076=)
|
rs1205167045
|
0.00002
|
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
|
NM_000489.6(ATRX):c.3315A>G (p.Gln1105=)
|
rs782378663
|
0.00002
|
|
NM_000489.6(ATRX):c.3328T>C (p.Ser1110Pro)
|
rs782698480
|
0.00002
|
|
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=)
|
rs3761507
|
0.00002
|
|
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=)
|
rs782427169
|
0.00002
|
|
NM_000489.6(ATRX):c.3477G>C (p.Glu1159Asp)
|
rs915523218
|
0.00002
|
|
NM_000489.6(ATRX):c.3624A>G (p.Ile1208Met)
|
rs370693515
|
0.00002
|
|
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val)
|
rs782062542
|
0.00002
|
|
NM_000489.6(ATRX):c.3664G>A (p.Asp1222Asn)
|
rs782520515
|
0.00002
|
|
NM_000489.6(ATRX):c.366A>G (p.Pro122=)
|
rs782564172
|
0.00002
|
|
NM_000489.6(ATRX):c.3786T>C (p.Asp1262=)
|
rs782113542
|
0.00002
|
|
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser)
|
rs201588422
|
0.00002
|
|
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser)
|
rs782293614
|
0.00002
|
|
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser)
|
rs1440336962
|
0.00002
|
|
NM_000489.6(ATRX):c.39A>C (p.Thr13=)
|
rs1244422748
|
0.00002
|
|
NM_000489.6(ATRX):c.4070A>G (p.Lys1357Arg)
|
rs1064796812
|
0.00002
|
|
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile)
|
rs1280555560
|
0.00002
|
|
NM_000489.6(ATRX):c.4329G>A (p.Glu1443=)
|
rs782044671
|
0.00002
|
|
NM_000489.6(ATRX):c.4338G>A (p.Glu1446=)
|
rs1211312426
|
0.00002
|
|
NM_000489.6(ATRX):c.4699+9C>T
|
rs782140505
|
0.00002
|
|
NM_000489.6(ATRX):c.484+7A>G
|
rs377292662
|
0.00002
|
|
NM_000489.6(ATRX):c.485-19A>G
|
rs1357515491
|
0.00002
|
|
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=)
|
rs145036475
|
0.00002
|
|
NM_000489.6(ATRX):c.5134+8A>G
|
rs781898638
|
0.00002
|
|
NM_000489.6(ATRX):c.5154T>C (p.Cys1718=)
|
rs782405658
|
0.00002
|
|
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=)
|
rs782211965
|
0.00002
|
|
NM_000489.6(ATRX):c.5449-6T>C
|
rs782446336
|
0.00002
|
|
NM_000489.6(ATRX):c.5484T>C (p.Pro1828=)
|
rs782803109
|
0.00002
|
|
NM_000489.6(ATRX):c.5493C>T (p.His1831=)
|
rs782508028
|
0.00002
|
|
NM_000489.6(ATRX):c.5786+7C>T
|
rs375234450
|
0.00002
|
|
NM_000489.6(ATRX):c.6102G>T (p.Gly2034=)
|
rs1374547675
|
0.00002
|
|
NM_000489.6(ATRX):c.6144C>T (p.Asp2048=)
|
rs1252304745
|
0.00002
|
|
NM_000489.6(ATRX):c.6207T>C (p.Leu2069=)
|
rs369953134
|
0.00002
|
|
NM_000489.6(ATRX):c.6252C>T (p.Tyr2084=)
|
rs1557069206
|
0.00002
|
|
NM_000489.6(ATRX):c.6327-18C>T
|
rs372246179
|
0.00002
|
|
NM_000489.6(ATRX):c.6330A>G (p.Gly2110=)
|
rs368051003
|
0.00002
|
|
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)
|
rs782274478
|
0.00002
|
|
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=)
|
rs139457986
|
0.00002
|
|
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)
|
rs375935735
|
0.00002
|
|
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=)
|
rs3027525
|
0.00002
|
|
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)
|
rs147341551
|
0.00002
|
|
NM_000489.6(ATRX):c.7183T>C (p.Leu2395=)
|
rs782490070
|
0.00002
|
|
NM_000489.6(ATRX):c.7200+15G>A
|
rs372742045
|
0.00002
|
|
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr)
|
rs782388992
|
0.00002
|
|
NM_000489.6(ATRX):c.926A>G (p.Tyr309Cys)
|
rs782058125
|
0.00002
|
|
NM_000489.6(ATRX):c.954G>A (p.Lys318=)
|
rs782406455
|
0.00002
|
|
NM_001015877.2(PHF6):c.132G>A (p.Lys44=)
|
rs759708359
|
0.00002
|
|
NM_001015877.2(PHF6):c.176A>G (p.Asn59Ser)
|
rs202007952
|
0.00002
|
|
NM_001015877.2(PHF6):c.233C>T (p.Thr78Met)
|
rs767406620
|
0.00002
|
|
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)
|
rs757649304
|
0.00002
|
|
NM_001079872.2(CUL4B):c.1722C>T (p.Ile574=)
|
rs142211300
|
0.00002
|
|
NM_001079872.2(CUL4B):c.63A>T (p.Arg21Ser)
|
rs757541076
|
0.00002
|
|
NM_001082486.1(ACD):c.102A>C (p.Arg34=)
|
rs773306733
|
0.00002
|
|
NM_001082486.1(ACD):c.43G>A (p.Gly15Arg)
|
rs752006255
|
0.00002
|
|
NM_001082486.1(ACD):c.84T>C (p.Ser28=)
|
rs753040978
|
0.00002
|
|
NM_001082486.2(ACD):c.1004G>A (p.Arg335His)
|
rs774558672
|
0.00002
|
|
NM_001082486.2(ACD):c.1211C>A (p.Pro404His)
|
rs201907421
|
0.00002
|
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
|
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg)
|
rs773274371
|
0.00002
|
|
NM_001082486.2(ACD):c.1314C>T (p.Leu438=)
|
rs528476326
|
0.00002
|
|
NM_001082486.2(ACD):c.1320C>T (p.Ala440=)
|
rs765091780
|
0.00002
|
|
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu)
|
rs150387011
|
0.00002
|
|
NM_001082486.2(ACD):c.159C>T (p.Asp53=)
|
rs761226246
|
0.00002
|
|
NM_001082486.2(ACD):c.413+9T>C
|
rs774274068
|
0.00002
|
|
NM_001082486.2(ACD):c.459-18G>A
|
rs1449515028
|
0.00002
|
|
NM_001082486.2(ACD):c.545dup (p.Ala184fs)
|
rs1567641214
|
0.00002
|
|
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile)
|
rs1181866888
|
0.00002
|
|
NM_001082486.2(ACD):c.608_609del (p.Pro203fs)
|
rs777476880
|
0.00002
|
|
NM_001082486.2(ACD):c.609T>C (p.Pro203=)
|
rs752926001
|
0.00002
|
|
NM_001082486.2(ACD):c.642C>T (p.Ala214=)
|
rs375866577
|
0.00002
|
|
NM_001082486.2(ACD):c.743-14C>T
|
rs781614614
|
0.00002
|
|
NM_001082486.2(ACD):c.743-17C>T
|
rs746257998
|
0.00002
|
|
NM_001082486.2(ACD):c.853A>G (p.Met285Val)
|
rs780951085
|
0.00002
|
|
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu)
|
rs1006777863
|
0.00002
|
|
NM_001082486.2(ACD):c.99+20C>T
|
rs751731124
|
0.00002
|
|
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr)
|
rs886044859
|
0.00002
|
|
NM_001110556.2(FLNA):c.1038C>T (p.Tyr346=)
|
rs1057522072
|
0.00002
|
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
|
NM_001110556.2(FLNA):c.1065+17G>T
|
rs782752794
|
0.00002
|
|
NM_001110556.2(FLNA):c.108G>A (p.Ala36=)
|
rs782572024
|
0.00002
|
|
NM_001110556.2(FLNA):c.1167C>T (p.Pro389=)
|
rs368227790
|
0.00002
|
|
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly)
|
rs371936356
|
0.00002
|
|
NM_001110556.2(FLNA):c.1223C>T (p.Thr408Met)
|
rs781827791
|
0.00002
|
|
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=)
|
rs1221446175
|
0.00002
|
|
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp)
|
rs863223644
|
0.00002
|
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
|
NM_001110556.2(FLNA):c.1383C>T (p.Ala461=)
|
rs371223471
|
0.00002
|
|
NM_001110556.2(FLNA):c.1406C>T (p.Pro469Leu)
|
rs782434140
|
0.00002
|
|
NM_001110556.2(FLNA):c.1429+20C>G
|
rs1557179119
|
0.00002
|
|
NM_001110556.2(FLNA):c.1430-10C>T
|
rs1418953981
|
0.00002
|
|
NM_001110556.2(FLNA):c.1454C>T (p.Ala485Val)
|
rs782262202
|
0.00002
|
|
NM_001110556.2(FLNA):c.1462C>T (p.Arg488Trp)
|
rs782434042
|
0.00002
|
|
NM_001110556.2(FLNA):c.1487G>A (p.Arg496Gln)
|
rs782539251
|
0.00002
|
|
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr)
|
rs782698277
|
0.00002
|
|
NM_001110556.2(FLNA):c.1567+18C>G
|
rs782112668
|
0.00002
|
|
NM_001110556.2(FLNA):c.1580G>A (p.Arg527His)
|
rs782450368
|
0.00002
|
|
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn)
|
rs782321294
|
0.00002
|
|
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val)
|
rs1443563081
|
0.00002
|
|
NM_001110556.2(FLNA):c.169C>T (p.Leu57=)
|
rs781849970
|
0.00002
|
|
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=)
|
rs371909600
|
0.00002
|
|
NM_001110556.2(FLNA):c.1815C>T (p.Asp605=)
|
rs781821848
|
0.00002
|
|
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=)
|
rs782114616
|
0.00002
|
|
NM_001110556.2(FLNA):c.1882G>A (p.Asp628Asn)
|
rs782534475
|
0.00002
|
|
NM_001110556.2(FLNA):c.1894G>A (p.Asp632Asn)
|
rs782718606
|
0.00002
|
|
NM_001110556.2(FLNA):c.1901G>A (p.Arg634His)
|
rs782038837
|
0.00002
|
|
NM_001110556.2(FLNA):c.1902C>T (p.Arg634=)
|
rs782136908
|
0.00002
|
|
NM_001110556.2(FLNA):c.1938C>T (p.His646=)
|
rs369037499
|
0.00002
|
|
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys)
|
rs782043699
|
0.00002
|
|
NM_001110556.2(FLNA):c.1991G>A (p.Arg664His)
|
rs1271495778
|
0.00002
|
|
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys)
|
rs1380007907
|
0.00002
|
|
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile)
|
rs782116160
|
0.00002
|
|
NM_001110556.2(FLNA):c.2137-19G>A
|
rs781900521
|
0.00002
|
|
NM_001110556.2(FLNA):c.2162C>T (p.Ala721Val)
|
rs781840723
|
0.00002
|
|
NM_001110556.2(FLNA):c.2179G>A (p.Gly727Ser)
|
rs1460177575
|
0.00002
|
|
NM_001110556.2(FLNA):c.2205C>T (p.Tyr735=)
|
rs782551055
|
0.00002
|
|
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu)
|
rs782278974
|
0.00002
|
|
NM_001110556.2(FLNA):c.2268C>T (p.Asn756=)
|
rs1224648230
|
0.00002
|
|
NM_001110556.2(FLNA):c.2331C>T (p.Pro777=)
|
rs782780604
|
0.00002
|
|
NM_001110556.2(FLNA):c.2379T>C (p.Thr793=)
|
rs782102782
|
0.00002
|
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
|
NM_001110556.2(FLNA):c.2405-10C>T
|
rs1024959081
|
0.00002
|
|
NM_001110556.2(FLNA):c.2405-20C>T
|
rs782576127
|
0.00002
|
|
NM_001110556.2(FLNA):c.2405-4G>A
|
rs368187218
|
0.00002
|
|
NM_001110556.2(FLNA):c.2405-7G>A
|
rs782134654
|
0.00002
|
|
NM_001110556.2(FLNA):c.2409C>T (p.Asp803=)
|
rs1557178312
|
0.00002
|
|
NM_001110556.2(FLNA):c.2437G>A (p.Gly813Arg)
|
rs782276414
|
0.00002
|
|
NM_001110556.2(FLNA):c.2483G>A (p.Arg828His)
|
rs1347740802
|
0.00002
|
|
NM_001110556.2(FLNA):c.2505G>A (p.Thr835=)
|
rs782013801
|
0.00002
|
|
NM_001110556.2(FLNA):c.2661C>T (p.Val887=)
|
rs781794634
|
0.00002
|
|
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys)
|
rs782580568
|
0.00002
|
|
NM_001110556.2(FLNA):c.2724C>T (p.Asp908=)
|
rs1557178153
|
0.00002
|
|
NM_001110556.2(FLNA):c.2778C>T (p.Ile926=)
|
rs782389613
|
0.00002
|
|
NM_001110556.2(FLNA):c.2839G>A (p.Val947Ile)
|
rs782239678
|
0.00002
|
|
NM_001110556.2(FLNA):c.2862T>C (p.Asp954=)
|
rs781808549
|
0.00002
|
|
NM_001110556.2(FLNA):c.2945-11C>T
|
rs782670720
|
0.00002
|
|
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile)
|
rs781884864
|
0.00002
|
|
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala)
|
rs782445995
|
0.00002
|
|
NM_001110556.2(FLNA):c.2982A>G (p.Lys994=)
|
rs782056982
|
0.00002
|
|
NM_001110556.2(FLNA):c.3120C>G (p.Pro1040=)
|
rs782814092
|
0.00002
|
|
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe)
|
rs1557177797
|
0.00002
|
|
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=)
|
rs782475258
|
0.00002
|
|
NM_001110556.2(FLNA):c.3378C>T (p.Tyr1126=)
|
rs782643175
|
0.00002
|
|
NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=)
|
rs782119340
|
0.00002
|
|
NM_001110556.2(FLNA):c.3570C>T (p.Ser1190=)
|
rs782421889
|
0.00002
|
|
NM_001110556.2(FLNA):c.3611C>T (p.Pro1204Leu)
|
rs376726422
|
0.00002
|
|
NM_001110556.2(FLNA):c.3647C>T (p.Thr1216Met)
|
rs781861717
|
0.00002
|
|
NM_001110556.2(FLNA):c.3691G>A (p.Val1231Ile)
|
rs1191721014
|
0.00002
|
|
NM_001110556.2(FLNA):c.3705C>T (p.Tyr1235=)
|
rs368741634
|
0.00002
|
|
NM_001110556.2(FLNA):c.374-8A>G
|
rs782101536
|
0.00002
|
|
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val)
|
rs782538253
|
0.00002
|
|
NM_001110556.2(FLNA):c.3777G>A (p.Gln1259=)
|
rs782455957
|
0.00002
|
|
NM_001110556.2(FLNA):c.3834C>T (p.Phe1278=)
|
rs1603361012
|
0.00002
|
|
NM_001110556.2(FLNA):c.3873G>A (p.Pro1291=)
|
rs1557177617
|
0.00002
|
|
NM_001110556.2(FLNA):c.3924C>T (p.Tyr1308=)
|
rs781997071
|
0.00002
|
|
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)
|
rs781928289
|
0.00002
|
|
NM_001110556.2(FLNA):c.393C>T (p.Asp131=)
|
rs782315270
|
0.00002
|
|
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn)
|
rs1557177584
|
0.00002
|
|
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=)
|
rs782525345
|
0.00002
|
|
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys)
|
rs782269355
|
0.00002
|
|
NM_001110556.2(FLNA):c.4142+19G>A
|
rs782553032
|
0.00002
|
|
NM_001110556.2(FLNA):c.4143-9T>C
|
rs782576241
|
0.00002
|
|
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=)
|
rs781868130
|
0.00002
|
|
NM_001110556.2(FLNA):c.4245C>A (p.Ile1415=)
|
rs782496836
|
0.00002
|
|
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=)
|
rs782080545
|
0.00002
|
|
NM_001110556.2(FLNA):c.441C>T (p.His147=)
|
rs781951563
|
0.00002
|
|
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn)
|
rs782129236
|
0.00002
|
|
NM_001110556.2(FLNA):c.4457A>T (p.Lys1486Ile)
|
rs188943867
|
0.00002
|
|
NM_001110556.2(FLNA):c.4495G>A (p.Val1499Met)
|
rs782701954
|
0.00002
|
|
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=)
|
rs1324926264
|
0.00002
|
|
NM_001110556.2(FLNA):c.453C>T (p.Ser151=)
|
rs782356825
|
0.00002
|
|
NM_001110556.2(FLNA):c.4595G>A (p.Arg1532Gln)
|
rs782460301
|
0.00002
|
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
|
NM_001110556.2(FLNA):c.4695C>T (p.Pro1565=)
|
rs1424968152
|
0.00002
|
|
NM_001110556.2(FLNA):c.4722C>T (p.Asp1574=)
|
rs1057521758
|
0.00002
|
|
NM_001110556.2(FLNA):c.4875C>T (p.Asp1625=)
|
rs371008940
|
0.00002
|
|
NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)
|
rs781846478
|
0.00002
|
|
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys)
|
rs1400230946
|
0.00002
|
|
NM_001110556.2(FLNA):c.4917C>T (p.Thr1639=)
|
rs370608721
|
0.00002
|
|
NM_001110556.2(FLNA):c.4923C>T (p.Asp1641=)
|
rs782614822
|
0.00002
|
|
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)
|
rs782352193
|
0.00002
|
|
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=)
|
rs782152127
|
0.00002
|
|
NM_001110556.2(FLNA):c.5271G>A (p.Leu1757=)
|
rs782031542
|
0.00002
|
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
|
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val)
|
rs12395634
|
0.00002
|
|
NM_001110556.2(FLNA):c.5481C>T (p.Thr1827=)
|
rs782576165
|
0.00002
|
|
NM_001110556.2(FLNA):c.5557+17T>C
|
rs1557176379
|
0.00002
|
|
NM_001110556.2(FLNA):c.5574C>T (p.Phe1858=)
|
rs781875077
|
0.00002
|
|
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=)
|
rs782253233
|
0.00002
|
|
NM_001110556.2(FLNA):c.5687-13C>T
|
rs782215178
|
0.00002
|
|
NM_001110556.2(FLNA):c.5694G>A (p.Leu1898=)
|
rs782618942
|
0.00002
|
|
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=)
|
rs781929535
|
0.00002
|
|
NM_001110556.2(FLNA):c.5861-9C>T
|
rs782153045
|
0.00002
|
|
NM_001110556.2(FLNA):c.5889A>G (p.Leu1963=)
|
rs1473446997
|
0.00002
|
|
NM_001110556.2(FLNA):c.591C>A (p.Ala197=)
|
rs945630388
|
0.00002
|
|
NM_001110556.2(FLNA):c.5934G>A (p.Thr1978=)
|
rs781836633
|
0.00002
|
|
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser)
|
rs1557176194
|
0.00002
|
|
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln)
|
rs1483960506
|
0.00002
|
|
NM_001110556.2(FLNA):c.6022+7G>A
|
rs782483397
|
0.00002
|
|
NM_001110556.2(FLNA):c.6079G>A (p.Gly2027Ser)
|
rs1557176152
|
0.00002
|
|
NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu)
|
rs782666380
|
0.00002
|
|
NM_001110556.2(FLNA):c.61G>T (p.Val21Phe)
|
rs1223954254
|
0.00002
|
|
NM_001110556.2(FLNA):c.622+16G>A
|
rs782048382
|
0.00002
|
|
NM_001110556.2(FLNA):c.623-7G>A
|
rs782670288
|
0.00002
|
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
|
NM_001110556.2(FLNA):c.6503-9A>G
|
rs781919390
|
0.00002
|
|
NM_001110556.2(FLNA):c.6507T>C (p.Ile2169=)
|
rs1247682661
|
0.00002
|
|
NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr)
|
rs782580503
|
0.00002
|
|
NM_001110556.2(FLNA):c.6570C>T (p.Ile2190=)
|
rs782314560
|
0.00002
|
|
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly)
|
rs953454766
|
0.00002
|
|
NM_001110556.2(FLNA):c.6738T>C (p.Pro2246=)
|
rs782352190
|
0.00002
|
|
NM_001110556.2(FLNA):c.6769+15A>G
|
rs782306278
|
0.00002
|
|
NM_001110556.2(FLNA):c.67A>G (p.Thr23Ala)
|
rs782244139
|
0.00002
|
|
NM_001110556.2(FLNA):c.6825C>T (p.Val2275=)
|
rs782399045
|
0.00002
|
|
NM_001110556.2(FLNA):c.6907+13C>T
|
rs781785987
|
0.00002
|
|
NM_001110556.2(FLNA):c.6908-14C>G
|
rs782486602
|
0.00002
|
|
NM_001110556.2(FLNA):c.6915C>T (p.Tyr2305=)
|
rs781910090
|
0.00002
|
|
NM_001110556.2(FLNA):c.7089G>A (p.Ala2363=)
|
rs781843787
|
0.00002
|
|
NM_001110556.2(FLNA):c.7095T>C (p.Asp2365=)
|
rs375369548
|
0.00002
|
|
NM_001110556.2(FLNA):c.7108A>G (p.Ser2370Gly)
|
rs1557175616
|
0.00002
|
|
NM_001110556.2(FLNA):c.7157A>G (p.Asp2386Gly)
|
rs371563857
|
0.00002
|
|
NM_001110556.2(FLNA):c.7174T>C (p.Phe2392Leu)
|
rs782645927
|
0.00002
|
|
NM_001110556.2(FLNA):c.720+18G>A
|
rs1436441934
|
0.00002
|
|
NM_001110556.2(FLNA):c.7209C>T (p.Asp2403=)
|
rs781906091
|
0.00002
|
|
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala)
|
rs782289803
|
0.00002
|
|
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp)
|
rs1281469151
|
0.00002
|
|
NM_001110556.2(FLNA):c.7333+17G>T
|
rs781940800
|
0.00002
|
|
NM_001110556.2(FLNA):c.7389G>A (p.Ser2463=)
|
rs373103712
|
0.00002
|
|
NM_001110556.2(FLNA):c.7451G>A (p.Arg2484His)
|
rs782338659
|
0.00002
|
|
NM_001110556.2(FLNA):c.7452C>T (p.Arg2484=)
|
rs782320498
|
0.00002
|
|
NM_001110556.2(FLNA):c.7519A>G (p.Ile2507Val)
|
rs971390304
|
0.00002
|
|
NM_001110556.2(FLNA):c.7526G>A (p.Gly2509Asp)
|
rs782611801
|
0.00002
|
|
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys)
|
rs782244918
|
0.00002
|
|
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His)
|
rs781959191
|
0.00002
|
|
NM_001110556.2(FLNA):c.7563C>T (p.Leu2521=)
|
rs782335342
|
0.00002
|
|
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=)
|
rs781905890
|
0.00002
|
|
NM_001110556.2(FLNA):c.7659G>C (p.Gly2553=)
|
rs909656307
|
0.00002
|
|
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile)
|
rs782291033
|
0.00002
|
|
NM_001110556.2(FLNA):c.7738G>A (p.Val2580Ile)
|
rs377518545
|
0.00002
|
|
NM_001110556.2(FLNA):c.7756+12G>A
|
rs782686474
|
0.00002
|
|
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=)
|
rs782372740
|
0.00002
|
|
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn)
|
rs782593788
|
0.00002
|
|
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg)
|
rs782302420
|
0.00002
|
|
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His)
|
rs782641074
|
0.00002
|
|
NM_001110556.2(FLNA):c.873C>T (p.Ile291=)
|
rs782140428
|
0.00002
|
|
NM_001110556.2(FLNA):c.897G>A (p.Lys299=)
|
rs782195984
|
0.00002
|
|
NM_001110556.2(FLNA):c.915T>C (p.Thr305=)
|
rs782439408
|
0.00002
|
|
NM_001110556.2(FLNA):c.933T>C (p.Ala311=)
|
rs782592312
|
0.00002
|
|
NM_001110556.2(FLNA):c.936C>A (p.Gly312=)
|
rs782475689
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1401+3C>A
|
rs377593679
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1426G>A (p.Asp476Asn)
|
rs200182557
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln)
|
rs202076203
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1609C>A (p.Pro537Thr)
|
rs1389197755
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1657C>T (p.Pro553Ser)
|
rs781876521
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=)
|
rs886044781
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2064C>T (p.Gly688=)
|
rs782766118
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2088C>T (p.Asn696=)
|
rs1405711349
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2139C>T (p.Ser713=)
|
rs782507169
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu)
|
rs782745696
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=)
|
rs781979737
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2181C>T (p.Thr727=)
|
rs782731808
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.21C>G (p.Pro7=)
|
rs1556880357
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln)
|
rs192071369
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=)
|
rs782564038
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=)
|
rs1327209801
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2459+3G>A
|
rs1204856744
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2811G>A (p.Gln937=)
|
rs781835138
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser)
|
rs781808414
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.2867G>A (p.Arg956His)
|
rs1556861319
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.294C>T (p.His98=)
|
rs1556880235
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3206G>A (p.Arg1069Gln)
|
rs782632137
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3278-13G>C
|
rs782674949
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3278-14C>T
|
rs782292524
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3307C>T (p.Arg1103Trp)
|
rs868950692
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3326C>T (p.Pro1109Leu)
|
rs1556859714
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3357G>A (p.Thr1119=)
|
rs1041874158
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=)
|
rs374220843
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3415G>A (p.Ala1139Thr)
|
rs1426916903
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3451+18C>T
|
rs782065826
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3486G>A (p.Leu1162=)
|
rs1490274246
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3502-15C>T
|
rs1299191132
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3502-3C>T
|
rs782720064
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu)
|
rs1161354303
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3696T>G (p.Ser1232=)
|
rs1556859248
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr)
|
rs1290683569
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3836C>T (p.Pro1279Leu)
|
rs1414926823
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3880C>A (p.Pro1294Thr)
|
rs782559635
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.3930C>T (p.Pro1310=)
|
rs913156254
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys)
|
rs957057964
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4073G>A (p.Arg1358His)
|
rs782285127
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4197A>G (p.Ala1399=)
|
rs1425766090
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu)
|
rs1556858927
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.4459G>A (p.Val1487Met)
|
rs1064796639
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.446C>T (p.Ala149Val)
|
rs1556880136
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=)
|
rs370573314
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.699C>G (p.Leu233=)
|
rs1411580863
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.708-3C>T
|
rs781873807
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.746G>C (p.Gly249Ala)
|
rs1556865202
|
0.00002
|
|
NM_001111125.3(IQSEC2):c.909C>T (p.Val303=)
|
rs781821475
|
0.00002
|
|
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)
|
rs886043917
|
0.00002
|
|
NM_001159699.2(FHL1):c.179G>A (p.Arg60His)
|
rs11557264
|
0.00002
|
|
NM_001159699.2(FHL1):c.204+18G>T
|
rs764595951
|
0.00002
|
|
NM_001159699.2(FHL1):c.205-9G>C
|
rs1178092343
|
0.00002
|
|
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys)
|
rs758269641
|
0.00002
|
|
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys)
|
rs1379221574
|
0.00002
|
|
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn)
|
rs764567944
|
0.00002
|
|
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu)
|
rs374479477
|
0.00002
|
|
NM_001159699.2(FHL1):c.447G>A (p.Lys149=)
|
rs768142579
|
0.00002
|
|
NM_001159699.2(FHL1):c.534C>T (p.Cys178=)
|
rs377693754
|
0.00002
|
|
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser)
|
rs1569530504
|
0.00002
|
|
NM_001159699.2(FHL1):c.573T>G (p.Thr191=)
|
rs2073910530
|
0.00002
|
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
|
NM_001159699.2(FHL1):c.612T>C (p.Cys204=)
|
rs752193492
|
0.00002
|
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
|
NM_001159699.2(FHL1):c.737-12_737-8del
|
rs761074507
|
0.00002
|
|
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)
|
rs768705041
|
0.00002
|
|
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu)
|
rs747922027
|
0.00002
|
|
NM_001167.4(XIAP):c.1071G>A (p.Glu357=)
|
rs369835712
|
0.00002
|
|
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met)
|
rs760574724
|
0.00002
|
|
NM_001167.4(XIAP):c.1300+7A>G
|
rs749438405
|
0.00002
|
|
NM_001167.4(XIAP):c.1328G>A (p.Arg443His)
|
rs1173411245
|
0.00002
|
|
NM_001167.4(XIAP):c.1437C>T (p.Asp479=)
|
rs781127670
|
0.00002
|
|
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)
|
rs1330516966
|
0.00002
|
|
NM_001167.4(XIAP):c.283G>A (p.Gly95Ser)
|
rs745844064
|
0.00002
|
|
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
|
rs1239294219
|
0.00002
|
|
NM_001167.4(XIAP):c.435G>T (p.Gln145His)
|
rs759909620
|
0.00002
|
|
NM_001167.4(XIAP):c.446T>C (p.Ile149Thr)
|
rs774308309
|
0.00002
|
|
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys)
|
rs140973844
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1200G>A (p.Glu400=)
|
rs759132569
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala)
|
rs746891808
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1355A>G (p.His452Arg)
|
rs777851773
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1384G>A (p.Val462Met)
|
rs200637767
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1552C>T (p.Leu518=)
|
rs1197941611
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1657A>G (p.Ile553Val)
|
rs796052818
|
0.00002
|
|
NM_001184880.2(PCDH19):c.1752C>T (p.Gly584=)
|
rs1240901255
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2234T>C (p.Ile745Thr)
|
rs369703205
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2250C>A (p.Asp750Glu)
|
rs778640450
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2264A>C (p.Glu755Ala)
|
rs754791297
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2289-11C>G
|
rs777190334
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2372G>A (p.Arg791Gln)
|
rs886042264
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2451C>T (p.His817=)
|
rs759932441
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2460G>A (p.Thr820=)
|
rs766769854
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2516A>G (p.Asn839Ser)
|
rs781315243
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2641A>C (p.Asn881His)
|
rs373996202
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2687T>C (p.Phe896Ser)
|
rs796052823
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=)
|
rs376946966
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2798A>G (p.Asp933Gly)
|
rs369379155
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2872C>T (p.Arg958Trp)
|
rs1309638639
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2875G>A (p.Glu959Lys)
|
rs1602567417
|
0.00002
|
|
NM_001184880.2(PCDH19):c.2994T>C (p.Thr998=)
|
rs745398684
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3045C>T (p.Phe1015=)
|
rs746702101
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3078G>A (p.Pro1026=)
|
rs1358480010
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3120T>C (p.Asp1040=)
|
rs199702403
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3183G>A (p.Ala1061=)
|
rs746084690
|
0.00002
|
|
NM_001184880.2(PCDH19):c.321C>T (p.Ser107=)
|
rs767664406
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3228C>T (p.Pro1076=)
|
rs759007349
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3259C>T (p.Leu1087=)
|
rs373432764
|
0.00002
|
|
NM_001184880.2(PCDH19):c.3424C>T (p.Arg1142Cys)
|
rs375132545
|
0.00002
|
|
NM_001184880.2(PCDH19):c.390G>A (p.Pro130=)
|
rs775408951
|
0.00002
|
|
NM_001184880.2(PCDH19):c.39C>T (p.Ala13=)
|
rs773244265
|
0.00002
|
|
NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn)
|
rs794726899
|
0.00002
|
|
NM_001184880.2(PCDH19):c.571G>C (p.Val191Leu)
|
rs753757730
|
0.00002
|
|
NM_001184880.2(PCDH19):c.593G>A (p.Arg198His)
|
rs772837341
|
0.00002
|
|
NM_001184880.2(PCDH19):c.650C>A (p.Pro217Gln)
|
rs200142964
|
0.00002
|
|
NM_001184880.2(PCDH19):c.798C>T (p.Asp266=)
|
rs369638371
|
0.00002
|
|
NM_001184880.2(PCDH19):c.851G>A (p.Arg284His)
|
rs749526030
|
0.00002
|
|
NM_001184880.2(PCDH19):c.858C>T (p.Arg286=)
|
rs779759129
|
0.00002
|
|
NM_001184880.2(PCDH19):c.894C>T (p.Val298=)
|
rs1362026055
|
0.00002
|
|
NM_001184880.2(PCDH19):c.915C>T (p.Asp305=)
|
rs1381662261
|
0.00002
|
|
NM_001184880.2(PCDH19):c.994G>C (p.Val332Leu)
|
rs1396289338
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1011G>A (p.Gln337=)
|
rs1330960420
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=)
|
rs782666474
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1078-19C>T
|
rs1412565246
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1293G>A (p.Arg431=)
|
rs782387990
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1390+11C>T
|
rs782212638
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1452C>T (p.His484=)
|
rs782395885
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.1479C>T (p.Ile493=)
|
rs781904925
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.254A>T (p.Asp85Val)
|
rs377326713
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.305G>A (p.Arg102Gln)
|
rs782087438
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.448G>A (p.Glu150Lys)
|
rs782237174
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.576A>G (p.Leu192=)
|
rs1556389015
|
0.00002
|
|
NM_001353921.2(ARHGEF9):c.815+11G>A
|
rs782246143
|
0.00002
|
|
NM_001375834.1(WIPF1):c.1289C>A (p.Pro430Gln)
|
rs145467227
|
0.00002
|
|
NM_001375834.1(WIPF1):c.1505C>T (p.Pro502Leu)
|
rs770286102
|
0.00002
|
|
NM_001375834.1(WIPF1):c.232G>A (p.Gly78Ser)
|
rs759985968
|
0.00002
|
|
NM_001375834.1(WIPF1):c.235G>A (p.Gly79Arg)
|
rs531744802
|
0.00002
|
|
NM_001375834.1(WIPF1):c.26C>T (p.Pro9Leu)
|
rs766473130
|
0.00002
|
|
NM_001375834.1(WIPF1):c.358+13T>C
|
rs752308068
|
0.00002
|
|
NM_001375834.1(WIPF1):c.39G>A (p.Pro13=)
|
rs143623121
|
0.00002
|
|
NM_001375834.1(WIPF1):c.509C>G (p.Pro170Arg)
|
rs560424291
|
0.00002
|
|
NM_001375834.1(WIPF1):c.595C>T (p.His199Tyr)
|
rs776631046
|
0.00002
|
|
NM_001375834.1(WIPF1):c.768C>T (p.Pro256=)
|
rs775538363
|
0.00002
|
|
NM_001375834.1(WIPF1):c.979G>A (p.Gly327Ser)
|
rs1430804372
|
0.00002
|
|
NM_001399.5(EDA):c.1083C>T (p.Ala361=)
|
rs780464771
|
0.00002
|
|
NM_001399.5(EDA):c.1099G>A (p.Ala367Thr)
|
rs368531049
|
0.00002
|
|
NM_001399.5(EDA):c.132G>C (p.Leu44=)
|
rs760109372
|
0.00002
|
|
NM_001399.5(EDA):c.135T>C (p.Gly45=)
|
rs766017052
|
0.00002
|
|
NM_001399.5(EDA):c.157C>T (p.Leu53Phe)
|
rs974684362
|
0.00002
|
|
NM_001399.5(EDA):c.301C>T (p.Pro101Ser)
|
rs182251004
|
0.00002
|
|
NM_001399.5(EDA):c.396+10C>T
|
rs754163471
|
0.00002
|
|
NM_001399.5(EDA):c.449A>G (p.Glu150Gly)
|
rs764642744
|
0.00002
|
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
|
NM_001399.5(EDA):c.503-5T>C
|
rs183243858
|
0.00002
|
|
NM_001399.5(EDA):c.546T>C (p.Pro182=)
|
rs758937877
|
0.00002
|
|
NM_001399.5(EDA):c.741+5G>T
|
rs763687144
|
0.00002
|
|
NM_001399.5(EDA):c.759A>G (p.Leu253=)
|
rs757048479
|
0.00002
|
|
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg)
|
rs1303880423
|
0.00002
|
|
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=)
|
rs778140223
|
0.00002
|
|
NM_004586.3(RPS6KA3):c.1362T>G (p.Asp454Glu)
|
rs762253691
|
0.00002
|
|
NM_004586.3(RPS6KA3):c.1467G>A (p.Val489=)
|
rs1277225078
|
0.00002
|
|
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn)
|
rs773615925
|
0.00002
|
|
NM_005120.3(MED12):c.1066C>A (p.Arg356=)
|
rs763867883
|
0.00002
|
|
NM_005120.3(MED12):c.1170C>T (p.Thr390=)
|
rs772236514
|
0.00002
|
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
|
NM_005120.3(MED12):c.1332C>T (p.Cys444=)
|
rs746205041
|
0.00002
|
|
NM_005120.3(MED12):c.1344T>G (p.Thr448=)
|
rs375202766
|
0.00002
|
|
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp)
|
rs1268612180
|
0.00002
|
|
NM_005120.3(MED12):c.1807C>T (p.Leu603=)
|
rs797045696
|
0.00002
|
|
NM_005120.3(MED12):c.1956C>T (p.Ser652=)
|
rs199873151
|
0.00002
|
|
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys)
|
rs764981858
|
0.00002
|
|
NM_005120.3(MED12):c.204+7C>T
|
rs776275934
|
0.00002
|
|
NM_005120.3(MED12):c.2118C>T (p.Val706=)
|
rs1346228842
|
0.00002
|
|
NM_005120.3(MED12):c.2172T>C (p.Val724=)
|
rs187478018
|
0.00002
|
|
NM_005120.3(MED12):c.2202C>T (p.Tyr734=)
|
rs1366328614
|
0.00002
|
|
NM_005120.3(MED12):c.2227-4G>A
|
rs751157238
|
0.00002
|
|
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)
|
rs199860580
|
0.00002
|
|
NM_005120.3(MED12):c.2686-15C>T
|
rs200842589
|
0.00002
|
|
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)
|
rs377078179
|
0.00002
|
|
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)
|
rs863223704
|
0.00002
|
|
NM_005120.3(MED12):c.3355-16C>G
|
rs201933970
|
0.00002
|
|
NM_005120.3(MED12):c.3516C>G (p.Thr1172=)
|
rs1057521581
|
0.00002
|
|
NM_005120.3(MED12):c.3692-14C>T
|
rs747228964
|
0.00002
|
|
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)
|
rs965896553
|
0.00002
|
|
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)
|
rs202120461
|
0.00002
|
|
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)
|
rs1060502168
|
0.00002
|
|
NM_005120.3(MED12):c.380C>T (p.Thr127Met)
|
rs775072642
|
0.00002
|
|
NM_005120.3(MED12):c.4077T>G (p.Ser1359=)
|
rs902073429
|
0.00002
|
|
NM_005120.3(MED12):c.4161C>T (p.Ile1387=)
|
rs776947543
|
0.00002
|
|
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly)
|
rs961569982
|
0.00002
|
|
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)
|
rs759532414
|
0.00002
|
|
NM_005120.3(MED12):c.4253+16G>A
|
rs185066241
|
0.00002
|
|
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)
|
rs763359998
|
0.00002
|
|
NM_005120.3(MED12):c.4380T>C (p.Ser1460=)
|
rs377119772
|
0.00002
|
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
|
NM_005120.3(MED12):c.4415+13A>C
|
rs993419382
|
0.00002
|
|
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg)
|
rs774937112
|
0.00002
|
|
NM_005120.3(MED12):c.4761C>T (p.Ser1587=)
|
rs369563649
|
0.00002
|
|
NM_005120.3(MED12):c.4863+16G>A
|
rs745396813
|
0.00002
|
|
NM_005120.3(MED12):c.5088G>A (p.Pro1696=)
|
rs202167558
|
0.00002
|
|
NM_005120.3(MED12):c.5124C>A (p.Val1708=)
|
rs775912778
|
0.00002
|
|
NM_005120.3(MED12):c.5253G>A (p.Pro1751=)
|
rs770067057
|
0.00002
|
|
NM_005120.3(MED12):c.5343A>G (p.Glu1781=)
|
rs750991975
|
0.00002
|
|
NM_005120.3(MED12):c.5427C>T (p.Ser1809=)
|
rs772462354
|
0.00002
|
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
|
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala)
|
rs200328506
|
0.00002
|
|
NM_005120.3(MED12):c.5561G>A (p.Arg1854His)
|
rs759125296
|
0.00002
|
|
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys)
|
rs759956340
|
0.00002
|
|
NM_005120.3(MED12):c.5576G>A (p.Arg1859His)
|
rs763700798
|
0.00002
|
|
NM_005120.3(MED12):c.5585G>A (p.Arg1862His)
|
rs773713291
|
0.00002
|
|
NM_005120.3(MED12):c.5652C>T (p.Gly1884=)
|
rs779068766
|
0.00002
|
|
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)
|
rs762659794
|
0.00002
|
|
NM_005120.3(MED12):c.5718C>T (p.Pro1906=)
|
rs746436864
|
0.00002
|
|
NM_005120.3(MED12):c.5749-5T>A
|
rs949727987
|
0.00002
|
|
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=)
|
rs757398839
|
0.00002
|
|
NM_005120.3(MED12):c.5991C>T (p.Gly1997=)
|
rs780565385
|
0.00002
|
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
|
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)
|
rs901541873
|
0.00002
|
|
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg)
|
rs2092345351
|
0.00002
|
|
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys)
|
rs777818556
|
0.00002
|
|
NM_005120.3(MED12):c.672T>C (p.His224=)
|
rs1407401085
|
0.00002
|
|
NM_005120.3(MED12):c.735+15A>G
|
rs202206536
|
0.00002
|
|
NM_005120.3(MED12):c.736-10G>A
|
rs764384329
|
0.00002
|
|
NM_005120.3(MED12):c.736-4A>G
|
rs371311763
|
0.00002
|
|
NM_005120.3(MED12):c.847-13C>T
|
rs374744294
|
0.00002
|
|
NM_005120.3(MED12):c.931G>A (p.Gly311Ser)
|
rs1477622307
|
0.00002
|
|
NM_005120.3(MED12):c.981G>A (p.Thr327=)
|
rs769757456
|
0.00002
|
|
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=)
|
rs398124206
|
0.00002
|
|
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
|
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=)
|
rs782244636
|
0.00002
|
|
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=)
|
rs371411952
|
0.00002
|
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
|
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=)
|
rs782332238
|
0.00002
|
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
|
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser)
|
rs782399563
|
0.00002
|
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
|
NM_005334.3(HCFC1):c.4275C>T (p.His1425=)
|
rs782707963
|
0.00002
|
|
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met)
|
rs781961897
|
0.00002
|
|
NM_005334.3(HCFC1):c.4497+4A>G
|
rs782206577
|
0.00002
|
|
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
|
rs782560491
|
0.00002
|
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
|
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)
|
rs1002620023
|
0.00002
|
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
|
NM_005334.3(HCFC1):c.5261-17A>G
|
rs782143370
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
|
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=)
|
rs782063013
|
0.00002
|
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
|
NM_005391.5(PDK3):c.1077+8G>A
|
rs370736936
|
0.00002
|
|
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr)
|
rs781166988
|
0.00002
|
|
NM_005391.5(PDK3):c.1149G>A (p.Thr383=)
|
rs768286680
|
0.00002
|
|
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val)
|
rs375862167
|
0.00002
|
|
NM_005391.5(PDK3):c.132T>C (p.Thr44=)
|
rs200045909
|
0.00002
|
|
NM_005391.5(PDK3):c.576C>T (p.Asn192=)
|
rs756934374
|
0.00002
|
|
NM_005391.5(PDK3):c.582G>A (p.Ala194=)
|
rs144345856
|
0.00002
|
|
NM_005391.5(PDK3):c.673+10A>G
|
rs750141483
|
0.00002
|
|
NM_005391.5(PDK3):c.674-3C>T
|
rs777647536
|
0.00002
|
|
NM_005391.5(PDK3):c.687C>T (p.Asp229=)
|
rs747154414
|
0.00002
|
|
NM_005391.5(PDK3):c.765G>A (p.Ala255=)
|
rs1277836754
|
0.00002
|
|
NM_005391.5(PDK3):c.995G>A (p.Arg332His)
|
rs368054026
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.122G>A (p.Arg41Gln)
|
rs147857235
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe)
|
rs759094089
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.190G>A (p.Ala64Thr)
|
rs910550834
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.262C>G (p.Leu88Val)
|
rs375148460
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.444A>G (p.Ser148=)
|
rs1173775262
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.469C>T (p.Arg157Cys)
|
rs138458908
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.534+16C>T
|
rs750200667
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.535-14T>G
|
rs769547935
|
0.00002
|
|
NM_005765.3(ATP6AP2):c.678T>C (p.Tyr226=)
|
rs1386735381
|
0.00002
|
|
NM_006950.3(SYN1):c.1122G>A (p.Ala374=)
|
rs757867825
|
0.00002
|
|
NM_006950.3(SYN1):c.1150A>G (p.Ile384Val)
|
rs772936641
|
0.00002
|
|
NM_006950.3(SYN1):c.1159-4C>T
|
rs897051260
|
0.00002
|
|
NM_006950.3(SYN1):c.1179G>A (p.Pro393=)
|
rs1471942298
|
0.00002
|
|
NM_006950.3(SYN1):c.1251C>A (p.Ala417=)
|
rs765003722
|
0.00002
|
|
NM_006950.3(SYN1):c.1305+13G>C
|
rs749347824
|
0.00002
|
|
NM_006950.3(SYN1):c.1356C>T (p.Pro452=)
|
rs749470625
|
0.00002
|
|
NM_006950.3(SYN1):c.1362G>A (p.Gly454=)
|
rs778151348
|
0.00002
|
|
NM_006950.3(SYN1):c.1971C>T (p.His657=)
|
rs201236500
|
0.00002
|
|
NM_006950.3(SYN1):c.439G>A (p.Glu147Lys)
|
rs201659924
|
0.00002
|
|
NM_006950.3(SYN1):c.473A>G (p.Asn158Ser)
|
rs765486966
|
0.00002
|
|
NM_006950.3(SYN1):c.505C>T (p.Arg169Trp)
|
rs762284940
|
0.00002
|
|
NM_006950.3(SYN1):c.565G>A (p.Ala189Thr)
|
rs2057893188
|
0.00002
|
|
NM_006950.3(SYN1):c.646T>C (p.Leu216=)
|
rs1386366470
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu)
|
rs748573163
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.1056C>T (p.Pro352=)
|
rs1381138968
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.160G>A (p.Ala54Thr)
|
rs1003990057
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.331G>T (p.Ala111Ser)
|
rs753548428
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.344C>T (p.Ala115Val)
|
rs1413588337
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.598G>A (p.Ala200Thr)
|
rs769527426
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.674+11C>T
|
rs370687569
|
0.00002
|
|
NM_016032.4(ZDHHC9):c.861G>T (p.Leu287=)
|
rs761777228
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu)
|
rs527254164
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala)
|
rs777529403
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu)
|
rs780781288
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg)
|
rs745340882
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=)
|
rs760179150
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly)
|
rs764770290
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter)
|
rs150374247
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=)
|
rs144459176
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg)
|
rs755456896
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=)
|
rs574323645
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=)
|
rs773997509
|
0.00002
|
|
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=)
|
rs750879802
|
0.00002
|
|
NM_031206.7(LAS1L):c.1270G>A (p.Val424Ile)
|
rs761006702
|
0.00002
|
|
NM_031206.7(LAS1L):c.1282G>A (p.Val428Met)
|
rs1190754458
|
0.00002
|
|
NM_031206.7(LAS1L):c.1371C>T (p.Ser457=)
|
rs761061736
|
0.00002
|
|
NM_031206.7(LAS1L):c.1483G>A (p.Glu495Lys)
|
rs762931496
|
0.00002
|
|
NM_031206.7(LAS1L):c.186C>T (p.Asp62=)
|
rs751173128
|
0.00002
|
|
NM_031206.7(LAS1L):c.1927+9del
|
rs774312008
|
0.00002
|
|
NM_031206.7(LAS1L):c.21C>T (p.Ala7=)
|
rs373165522
|
0.00002
|
|
NM_031206.7(LAS1L):c.715G>T (p.Asp239Tyr)
|
rs750436732
|
0.00002
|
|
NM_031206.7(LAS1L):c.747C>T (p.Ser249=)
|
rs745356580
|
0.00002
|
|
NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)
|
rs185347914
|
0.00002
|
|
NM_080632.3(UPF3B):c.1202G>A (p.Arg401Gln)
|
rs775993429
|
0.00002
|
|
NM_080632.3(UPF3B):c.1235C>T (p.Ser412Leu)
|
rs780652469
|
0.00002
|
|
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)
|
rs147945173
|
0.00002
|
|
NM_139058.3(ARX):c.1260T>G (p.Pro420=)
|
rs1057521263
|
0.00002
|
|
NM_139058.3(ARX):c.1272G>A (p.Pro424=)
|
rs398124507
|
0.00002
|
|
NM_139058.3(ARX):c.1281C>T (p.Asp427=)
|
rs587783185
|
0.00002
|
|
NM_139058.3(ARX):c.1448+10A>G
|
rs774033566
|
0.00002
|
|
NM_139058.3(ARX):c.1471C>A (p.Leu491Met)
|
rs752807804
|
0.00002
|
|
NM_139058.3(ARX):c.1524G>A (p.Val508=)
|
rs1056460685
|
0.00002
|
|
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)
|
rs746120093
|
0.00002
|
|
NM_139058.3(ARX):c.1668C>T (p.Ser556=)
|
rs1281833018
|
0.00002
|
|
NM_139058.3(ARX):c.300G>A (p.Ala100=)
|
rs797045294
|
0.00002
|
|
NM_139058.3(ARX):c.306G>T (p.Ala102=)
|
rs587783196
|
0.00002
|
|
NM_139058.3(ARX):c.361C>A (p.Pro121Thr)
|
rs1308958274
|
0.00002
|
|
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr)
|
rs888222904
|
0.00002
|
|
NM_139058.3(ARX):c.440C>T (p.Ala147Val)
|
rs1048593315
|
0.00002
|
|
NM_139058.3(ARX):c.450C>A (p.Ala150=)
|
rs1410039382
|
0.00002
|
|
NM_139058.3(ARX):c.591C>T (p.Gly197=)
|
rs1200326478
|
0.00002
|
|
NM_139058.3(ARX):c.651G>A (p.Ala217=)
|
rs587783204
|
0.00002
|
|
NM_139058.3(ARX):c.681G>C (p.Glu227Asp)
|
rs887974166
|
0.00002
|
|
NM_139058.3(ARX):c.699C>T (p.Asp233=)
|
rs1277580936
|
0.00002
|
|
NM_139058.3(ARX):c.706G>C (p.Asp236His)
|
rs1291778310
|
0.00002
|
|
NM_139058.3(ARX):c.739G>C (p.Asp247His)
|
rs765259012
|
0.00002
|
|
NM_139058.3(ARX):c.794G>A (p.Arg265His)
|
rs1223069540
|
0.00002
|
|
NM_139058.3(ARX):c.832G>A (p.Ala278Thr)
|
rs751858511
|
0.00002
|
|
NM_139058.3(ARX):c.91A>C (p.Ser31Arg)
|
rs878853107
|
0.00002
|
|
NC_000016.10:g.67660316G>T
|
rs774922687
|
0.00001
|
|
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=)
|
rs781828983
|
0.00001
|
|
NM_000033.4(ABCD1):c.1026G>A (p.Ser342=)
|
rs1557053246
|
0.00001
|
|
NM_000033.4(ABCD1):c.1071C>T (p.Tyr357=)
|
rs200988373
|
0.00001
|
|
NM_000033.4(ABCD1):c.1081+8C>T
|
rs782246846
|
0.00001
|
|
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
|
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser)
|
rs1205548762
|
0.00001
|
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
|
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=)
|
rs1205664363
|
0.00001
|
|
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val)
|
rs1324874967
|
0.00001
|
|
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=)
|
rs782515233
|
0.00001
|
|
NM_000033.4(ABCD1):c.1197T>C (p.Ile399=)
|
rs143589488
|
0.00001
|
|
NM_000033.4(ABCD1):c.1225-9C>T
|
rs371682640
|
0.00001
|
|
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser)
|
rs782161850
|
0.00001
|
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
|
NM_000033.4(ABCD1):c.1257G>A (p.Val419=)
|
rs1603234541
|
0.00001
|
|
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln)
|
rs782066367
|
0.00001
|
|
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys)
|
rs1255903649
|
0.00001
|
|
NM_000033.4(ABCD1):c.1291C>T (p.Arg431Cys)
|
rs782598285
|
0.00001
|
|
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=)
|
rs200522486
|
0.00001
|
|
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=)
|
rs782339121
|
0.00001
|
|
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu)
|
rs781866876
|
0.00001
|
|
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln)
|
rs138902450
|
0.00001
|
|
NM_000033.4(ABCD1):c.1393+9G>A
|
rs1569541019
|
0.00001
|
|
NM_000033.4(ABCD1):c.1394-5T>C
|
rs782336998
|
0.00001
|
|
NM_000033.4(ABCD1):c.1404G>A (p.Val468=)
|
rs782072629
|
0.00001
|
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
0.00001
|
|
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=)
|
rs1557054320
|
0.00001
|
|
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=)
|
rs782704819
|
0.00001
|
|
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=)
|
rs782546330
|
0.00001
|
|
NM_000033.4(ABCD1):c.1489-18C>T
|
rs1557054724
|
0.00001
|
|
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=)
|
rs149643908
|
0.00001
|
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
|
NM_000033.4(ABCD1):c.1617G>A (p.Met539Ile)
|
rs927479436
|
0.00001
|
|
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=)
|
rs782005164
|
0.00001
|
|
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=)
|
rs1482177539
|
0.00001
|
|
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
|
NM_000033.4(ABCD1):c.1746C>T (p.Val582=)
|
rs1557054863
|
0.00001
|
|
NM_000033.4(ABCD1):c.1749G>A (p.Val583=)
|
rs1557054868
|
0.00001
|
|
NM_000033.4(ABCD1):c.1755G>A (p.Leu585=)
|
rs2091764918
|
0.00001
|
|
NM_000033.4(ABCD1):c.1781-9C>T
|
rs1447645678
|
0.00001
|
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
|
NM_000033.4(ABCD1):c.1865+8C>T
|
rs374985703
|
0.00001
|
|
NM_000033.4(ABCD1):c.1866-11C>T
|
rs782126372
|
0.00001
|
|
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=)
|
rs1557055319
|
0.00001
|
|
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met)
|
rs782706738
|
0.00001
|
|
NM_000033.4(ABCD1):c.1947C>T (p.Asp649=)
|
rs1483248084
|
0.00001
|
|
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=)
|
rs782809410
|
0.00001
|
|
NM_000033.4(ABCD1):c.1991+8C>T
|
rs2091774199
|
0.00001
|
|
NM_000033.4(ABCD1):c.2022T>C (p.Asp674=)
|
rs2091775214
|
0.00001
|
|
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)
|
rs782740513
|
0.00001
|
|
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp)
|
rs782583464
|
0.00001
|
|
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys)
|
rs1557055441
|
0.00001
|
|
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu)
|
rs375489051
|
0.00001
|
|
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser)
|
rs1290462360
|
0.00001
|
|
NM_000033.4(ABCD1):c.225C>T (p.Leu75=)
|
rs781883009
|
0.00001
|
|
NM_000033.4(ABCD1):c.234C>T (p.Leu78=)
|
rs940741241
|
0.00001
|
|
NM_000033.4(ABCD1):c.252C>T (p.Pro84=)
|
rs1557052276
|
0.00001
|
|
NM_000033.4(ABCD1):c.297C>T (p.Ala99=)
|
rs889405096
|
0.00001
|
|
NM_000033.4(ABCD1):c.300C>G (p.Ala100=)
|
rs782098898
|
0.00001
|
|
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala)
|
rs782138372
|
0.00001
|
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
|
NM_000033.4(ABCD1):c.345C>T (p.Asp115=)
|
rs1557052311
|
0.00001
|
|
NM_000033.4(ABCD1):c.403C>T (p.Leu135=)
|
rs1448083307
|
0.00001
|
|
NM_000033.4(ABCD1):c.483G>A (p.Ser161=)
|
rs369052808
|
0.00001
|
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
|
NM_000033.4(ABCD1):c.528C>G (p.Ser176=)
|
rs1557052393
|
0.00001
|
|
NM_000033.4(ABCD1):c.561C>T (p.Asp187=)
|
rs781987852
|
0.00001
|
|
NM_000033.4(ABCD1):c.57C>G (p.Ala19=)
|
rs1603231679
|
0.00001
|
|
NM_000033.4(ABCD1):c.663C>T (p.Asp221=)
|
rs1557052447
|
0.00001
|
|
NM_000033.4(ABCD1):c.668C>T (p.Ala223Val)
|
rs782230740
|
0.00001
|
|
NM_000033.4(ABCD1):c.66G>T (p.Leu22=)
|
rs1557052169
|
0.00001
|
|
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala)
|
rs1557052459
|
0.00001
|
|
NM_000033.4(ABCD1):c.675T>C (p.Thr225=)
|
rs1557052463
|
0.00001
|
|
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln)
|
rs782143050
|
0.00001
|
|
NM_000033.4(ABCD1):c.714C>T (p.Ala238=)
|
rs781906112
|
0.00001
|
|
NM_000033.4(ABCD1):c.729C>G (p.Pro243=)
|
rs1557052503
|
0.00001
|
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
|
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
|
rs200849757
|
0.00001
|
|
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln)
|
rs200191405
|
0.00001
|
|
NM_000033.4(ABCD1):c.786G>A (p.Ser262=)
|
rs1020447716
|
0.00001
|
|
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val)
|
rs781970988
|
0.00001
|
|
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val)
|
rs868992338
|
0.00001
|
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
|
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val)
|
rs2091712106
|
0.00001
|
|
NM_000033.4(ABCD1):c.906G>A (p.Glu302=)
|
rs782178199
|
0.00001
|
|
NM_000033.4(ABCD1):c.923G>A (p.Arg308His)
|
rs781978255
|
0.00001
|
|
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu)
|
rs782726660
|
0.00001
|
|
NM_000033.4(ABCD1):c.960C>T (p.Ile320=)
|
rs1557053225
|
0.00001
|
|
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=)
|
rs374656309
|
0.00001
|
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
|
NM_000052.7(ATP7A):c.121-12T>C
|
rs1557231556
|
0.00001
|
|
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val)
|
rs782815622
|
0.00001
|
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
|
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr)
|
rs1557231909
|
0.00001
|
|
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)
|
rs782505393
|
0.00001
|
|
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe)
|
rs782635238
|
0.00001
|
|
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly)
|
rs782530774
|
0.00001
|
|
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)
|
rs2077660217
|
0.00001
|
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
|
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=)
|
rs143036870
|
0.00001
|
|
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=)
|
rs782148279
|
0.00001
|
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
|
NM_000052.7(ATP7A):c.1337-5A>G
|
rs371146030
|
0.00001
|
|
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=)
|
rs782292643
|
0.00001
|
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
|
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala)
|
rs782416233
|
0.00001
|
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
0.00001
|
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
|
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=)
|
rs782495317
|
0.00001
|
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
|
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
|
rs1557233359
|
0.00001
|
|
NM_000052.7(ATP7A):c.1590A>G (p.Val530=)
|
rs1557233367
|
0.00001
|
|
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=)
|
rs1056057247
|
0.00001
|
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
|
NM_000052.7(ATP7A):c.168A>G (p.Leu56=)
|
rs782612734
|
0.00001
|
|
NM_000052.7(ATP7A):c.1707+16T>C
|
rs1557233398
|
0.00001
|
|
NM_000052.7(ATP7A):c.1708-9C>G
|
rs1557234077
|
0.00001
|
|
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
|
rs1569549834
|
0.00001
|
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
|
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)
|
rs375103934
|
0.00001
|
|
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His)
|
rs782764596
|
0.00001
|
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
|
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val)
|
rs1318638094
|
0.00001
|
|
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
|
rs782528311
|
0.00001
|
|
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg)
|
rs782396059
|
0.00001
|
|
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=)
|
rs782299586
|
0.00001
|
|
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=)
|
rs782315947
|
0.00001
|
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
|
NM_000052.7(ATP7A):c.1946+11T>C
|
rs1557234428
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-7A>G
|
rs2077824853
|
0.00001
|
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
|
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
|
rs782629836
|
0.00001
|
|
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu)
|
rs781792854
|
0.00001
|
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
|
NM_000052.7(ATP7A):c.204C>T (p.Asp68=)
|
rs1557231573
|
0.00001
|
|
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu)
|
rs1557234510
|
0.00001
|
|
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
|
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=)
|
rs1318545869
|
0.00001
|
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
|
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=)
|
rs782037158
|
0.00001
|
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
|
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu)
|
rs1557234543
|
0.00001
|
|
NM_000052.7(ATP7A):c.219T>C (p.Ala73=)
|
rs1557231581
|
0.00001
|
|
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu)
|
rs782240491
|
0.00001
|
|
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr)
|
rs782389012
|
0.00001
|
|
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn)
|
rs782293297
|
0.00001
|
|
NM_000052.7(ATP7A):c.2253G>A (p.Val751=)
|
rs782375469
|
0.00001
|
|
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val)
|
rs1157086859
|
0.00001
|
|
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val)
|
rs1557234739
|
0.00001
|
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
|
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=)
|
rs2077838145
|
0.00001
|
|
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
|
rs1557234754
|
0.00001
|
|
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)
|
rs782770209
|
0.00001
|
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
|
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=)
|
rs781953495
|
0.00001
|
|
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=)
|
rs368261204
|
0.00001
|
|
NM_000052.7(ATP7A):c.2499-9T>C
|
rs1557235070
|
0.00001
|
|
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=)
|
rs1420350554
|
0.00001
|
|
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=)
|
rs781950120
|
0.00001
|
|
NM_000052.7(ATP7A):c.255T>C (p.Thr85=)
|
rs1557231589
|
0.00001
|
|
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=)
|
rs1557235088
|
0.00001
|
|
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly)
|
rs782094714
|
0.00001
|
|
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)
|
rs781892236
|
0.00001
|
|
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=)
|
rs1557235097
|
0.00001
|
|
NM_000052.7(ATP7A):c.2627-17C>T
|
rs782200911
|
0.00001
|
|
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg)
|
rs1324162252
|
0.00001
|
|
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=)
|
rs781928048
|
0.00001
|
|
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=)
|
rs1557235606
|
0.00001
|
|
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=)
|
rs1396353749
|
0.00001
|
|
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
|
rs369335432
|
0.00001
|
|
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
|
rs1557235619
|
0.00001
|
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
|
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu)
|
rs782225818
|
0.00001
|
|
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr)
|
rs782807828
|
0.00001
|
|
NM_000052.7(ATP7A):c.2865A>G (p.Val955=)
|
rs1557235728
|
0.00001
|
|
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys)
|
rs1557235740
|
0.00001
|
|
NM_000052.7(ATP7A):c.2917-7T>C
|
rs376898023
|
0.00001
|
|
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp)
|
rs1557236695
|
0.00001
|
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
|
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=)
|
rs371089220
|
0.00001
|
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
|
NM_000052.7(ATP7A):c.318A>G (p.Thr106=)
|
rs781851530
|
0.00001
|
|
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=)
|
rs2077983590
|
0.00001
|
|
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=)
|
rs1557237065
|
0.00001
|
|
NM_000052.7(ATP7A):c.3294+10T>A
|
rs2077984363
|
0.00001
|
|
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
|
rs782066060
|
0.00001
|
|
NM_000052.7(ATP7A):c.330C>A (p.Thr110=)
|
rs1557231608
|
0.00001
|
|
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn)
|
rs782548907
|
0.00001
|
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
|
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg)
|
rs782486797
|
0.00001
|
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
|
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly)
|
rs1363235909
|
0.00001
|
|
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln)
|
rs2077996609
|
0.00001
|
|
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)
|
rs781907456
|
0.00001
|
|
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln)
|
rs782435305
|
0.00001
|
|
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=)
|
rs1391918882
|
0.00001
|
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
|
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=)
|
rs782173299
|
0.00001
|
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
|
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
|
rs1557238254
|
0.00001
|
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
|
NM_000052.7(ATP7A):c.3802-9A>G
|
rs1557238565
|
0.00001
|
|
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=)
|
rs895520660
|
0.00001
|
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
|
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=)
|
rs782582761
|
0.00001
|
|
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=)
|
rs781872987
|
0.00001
|
|
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=)
|
rs1569550333
|
0.00001
|
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
|
NM_000052.7(ATP7A):c.4005+10A>G
|
rs782188201
|
0.00001
|
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
|
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val)
|
rs782161783
|
0.00001
|
|
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=)
|
rs781939808
|
0.00001
|
|
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)
|
rs1557231629
|
0.00001
|
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
|
NM_000052.7(ATP7A):c.4227-12del
|
rs1557239080
|
0.00001
|
|
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=)
|
rs990337633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
|
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=)
|
rs1569550372
|
0.00001
|
|
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)
|
rs1557239111
|
0.00001
|
|
NM_000052.7(ATP7A):c.4311T>C (p.His1437=)
|
rs782541211
|
0.00001
|
|
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp)
|
rs1557239117
|
0.00001
|
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
|
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His)
|
rs782272603
|
0.00001
|
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
|
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)
|
rs1557239144
|
0.00001
|
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
|
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=)
|
rs1557239148
|
0.00001
|
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
|
NM_000052.7(ATP7A):c.498T>C (p.Ala166=)
|
rs782701351
|
0.00001
|
|
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp)
|
rs782485590
|
0.00001
|
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
|
NM_000052.7(ATP7A):c.531G>A (p.Val177=)
|
rs1557231650
|
0.00001
|
|
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys)
|
rs782675275
|
0.00001
|
|
NM_000052.7(ATP7A):c.548A>G (p.His183Arg)
|
rs1186296000
|
0.00001
|
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
|
NM_000052.7(ATP7A):c.579T>A (p.Ile193=)
|
rs2077652795
|
0.00001
|
|
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser)
|
rs1557231670
|
0.00001
|
|
NM_000052.7(ATP7A):c.611-4C>T
|
rs1287080060
|
0.00001
|
|
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
|
rs1557231734
|
0.00001
|
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
|
NM_000052.7(ATP7A):c.807G>A (p.Arg269=)
|
rs868946047
|
0.00001
|
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
|
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)
|
rs1039952708
|
0.00001
|
|
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg)
|
rs782449900
|
0.00001
|
|
NM_000052.7(ATP7A):c.933T>C (p.Ser311=)
|
rs782638418
|
0.00001
|
|
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
|
rs1557231829
|
0.00001
|
|
NM_000074.3(CD40LG):c.156+11C>A
|
rs776610381
|
0.00001
|
|
NM_000074.3(CD40LG):c.156+17G>A
|
rs755782893
|
0.00001
|
|
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)
|
rs1338696512
|
0.00001
|
|
NM_000074.3(CD40LG):c.288+6C>T
|
rs773041323
|
0.00001
|
|
NM_000074.3(CD40LG):c.290A>G (p.Asp97Gly)
|
rs1004051141
|
0.00001
|
|
NM_000074.3(CD40LG):c.315G>A (p.Thr105=)
|
rs778398894
|
0.00001
|
|
NM_000074.3(CD40LG):c.330C>A (p.Ser110Arg)
|
rs368691563
|
0.00001
|
|
NM_000074.3(CD40LG):c.360T>C (p.Pro120=)
|
rs2076118899
|
0.00001
|
|
NM_000074.3(CD40LG):c.368C>T (p.Ala123Val)
|
rs104894778
|
0.00001
|
|
NM_000074.3(CD40LG):c.387G>A (p.Glu129=)
|
rs746052549
|
0.00001
|
|
NM_000074.3(CD40LG):c.393C>G (p.Ser131Arg)
|
rs1210201609
|
0.00001
|
|
NM_000074.3(CD40LG):c.394A>C (p.Ser132Arg)
|
rs770773481
|
0.00001
|
|
NM_000074.3(CD40LG):c.409+14C>T
|
rs376624219
|
0.00001
|
|
NM_000074.3(CD40LG):c.409+17C>T
|
rs1195970071
|
0.00001
|
|
NM_000074.3(CD40LG):c.478C>G (p.Gln160Glu)
|
rs767889061
|
0.00001
|
|
NM_000074.3(CD40LG):c.562C>G (p.Pro188Ala)
|
rs1245452261
|
0.00001
|
|
NM_000074.3(CD40LG):c.654C>T (p.Cys218=)
|
rs368157256
|
0.00001
|
|
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp)
|
rs1477466218
|
0.00001
|
|
NM_000074.3(CD40LG):c.7G>A (p.Glu3Lys)
|
rs1350282799
|
0.00001
|
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
|
NM_000117.3(EMD):c.117C>T (p.Phe39=)
|
rs782334564
|
0.00001
|
|
NM_000117.3(EMD):c.129C>T (p.Thr43=)
|
rs781938390
|
0.00001
|
|
NM_000117.3(EMD):c.132G>A (p.Gln44=)
|
rs1322660028
|
0.00001
|
|
NM_000117.3(EMD):c.149C>A (p.Pro50His)
|
rs782021157
|
0.00001
|
|
NM_000117.3(EMD):c.153C>A (p.Pro51=)
|
rs782051850
|
0.00001
|
|
NM_000117.3(EMD):c.15A>G (p.Ala5=)
|
rs1365728244
|
0.00001
|
|
NM_000117.3(EMD):c.168C>T (p.Ala56=)
|
rs782087009
|
0.00001
|
|
NM_000117.3(EMD):c.188-16C>T
|
rs1269992805
|
0.00001
|
|
NM_000117.3(EMD):c.198G>T (p.Ser66=)
|
rs1557182359
|
0.00001
|
|
NM_000117.3(EMD):c.240G>A (p.Glu80=)
|
rs782641259
|
0.00001
|
|
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)
|
rs1557182377
|
0.00001
|
|
NM_000117.3(EMD):c.252C>T (p.Leu84=)
|
rs782612830
|
0.00001
|
|
NM_000117.3(EMD):c.266-19C>T
|
rs1057522166
|
0.00001
|
|
NM_000117.3(EMD):c.295T>C (p.Tyr99His)
|
rs781835089
|
0.00001
|
|
NM_000117.3(EMD):c.297C>T (p.Tyr99=)
|
rs1010675678
|
0.00001
|
|
NM_000117.3(EMD):c.306C>T (p.Thr102=)
|
rs782579799
|
0.00001
|
|
NM_000117.3(EMD):c.315T>C (p.Tyr105=)
|
rs1342409944
|
0.00001
|
|
NM_000117.3(EMD):c.330T>G (p.Ser110=)
|
rs782666989
|
0.00001
|
|
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)
|
rs782038352
|
0.00001
|
|
NM_000117.3(EMD):c.400-4G>T
|
rs782029952
|
0.00001
|
|
NM_000117.3(EMD):c.400-6C>T
|
rs782396776
|
0.00001
|
|
NM_000117.3(EMD):c.400G>A (p.Val134Met)
|
rs201250825
|
0.00001
|
|
NM_000117.3(EMD):c.403C>T (p.His135Tyr)
|
rs782110153
|
0.00001
|
|
NM_000117.3(EMD):c.406G>C (p.Asp136His)
|
rs869025401
|
0.00001
|
|
NM_000117.3(EMD):c.423T>G (p.Ser141=)
|
rs1209782193
|
0.00001
|
|
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)
|
rs782732591
|
0.00001
|
|
NM_000117.3(EMD):c.444G>A (p.Lys148=)
|
rs781889750
|
0.00001
|
|
NM_000117.3(EMD):c.449+12G>A
|
rs1557182578
|
0.00001
|
|
NM_000117.3(EMD):c.450-13T>C
|
rs375480222
|
0.00001
|
|
NM_000117.3(EMD):c.450-19C>T
|
rs1557182589
|
0.00001
|
|
NM_000117.3(EMD):c.489C>T (p.Ser163=)
|
rs782558454
|
0.00001
|
|
NM_000117.3(EMD):c.492C>T (p.Ile164=)
|
rs1286873712
|
0.00001
|
|
NM_000117.3(EMD):c.494C>T (p.Thr165Met)
|
rs397515751
|
0.00001
|
|
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys)
|
rs1569552104
|
0.00001
|
|
NM_000117.3(EMD):c.557C>T (p.Ser186Phe)
|
rs372718547
|
0.00001
|
|
NM_000117.3(EMD):c.575C>T (p.Ser192Phe)
|
rs782393829
|
0.00001
|
|
NM_000117.3(EMD):c.57C>T (p.Tyr19=)
|
rs371661299
|
0.00001
|
|
NM_000117.3(EMD):c.582A>C (p.Ser194=)
|
rs781933286
|
0.00001
|
|
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)
|
rs1569552105
|
0.00001
|
|
NM_000117.3(EMD):c.603C>T (p.Leu201=)
|
rs1557182663
|
0.00001
|
|
NM_000117.3(EMD):c.619C>T (p.Arg207Trp)
|
rs2067885563
|
0.00001
|
|
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)
|
rs782352489
|
0.00001
|
|
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)
|
rs782193940
|
0.00001
|
|
NM_000117.3(EMD):c.702C>T (p.Val234=)
|
rs1057521076
|
0.00001
|
|
NM_000117.3(EMD):c.711C>T (p.Ile237=)
|
rs727503037
|
0.00001
|
|
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser)
|
rs782208090
|
0.00001
|
|
NM_000117.3(EMD):c.735C>T (p.Phe245=)
|
rs782312045
|
0.00001
|
|
NM_000117.3(EMD):c.82+9C>T
|
rs1422586674
|
0.00001
|
|
NM_000117.3(EMD):c.83-18C>T
|
rs782577051
|
0.00001
|
|
NM_000240.4(MAOA):c.1153G>A (p.Glu385Lys)
|
rs778306070
|
0.00001
|
|
NM_000240.4(MAOA):c.1165-11C>T
|
rs948692153
|
0.00001
|
|
NM_000240.4(MAOA):c.1223C>T (p.Thr408Met)
|
rs2033963856
|
0.00001
|
|
NM_000240.4(MAOA):c.1488C>G (p.Pro496=)
|
rs1569203097
|
0.00001
|
|
NM_000240.4(MAOA):c.1545G>T (p.Gly515=)
|
rs1223537199
|
0.00001
|
|
NM_000240.4(MAOA):c.260A>G (p.Glu87Gly)
|
rs747229681
|
0.00001
|
|
NM_000240.4(MAOA):c.325C>T (p.Arg109Trp)
|
rs140295792
|
0.00001
|
|
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
|
rs755919316
|
0.00001
|
|
NM_000240.4(MAOA):c.816G>A (p.Ala272=)
|
rs751223564
|
0.00001
|
|
NM_000252.3(MTM1):c.1008T>C (p.His336=)
|
rs1557414128
|
0.00001
|
|
NM_000252.3(MTM1):c.1080A>G (p.Val360=)
|
rs782202285
|
0.00001
|
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
|
NM_000252.3(MTM1):c.111A>G (p.Arg37=)
|
rs2038979283
|
0.00001
|
|
NM_000252.3(MTM1):c.1131C>T (p.Asp377=)
|
rs1557414507
|
0.00001
|
|
NM_000252.3(MTM1):c.1194G>A (p.Arg398=)
|
rs1557414516
|
0.00001
|
|
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val)
|
rs373788741
|
0.00001
|
|
NM_000252.3(MTM1):c.1260+7A>T
|
rs782771099
|
0.00001
|
|
NM_000252.3(MTM1):c.1261-6A>G
|
rs781856399
|
0.00001
|
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
|
NM_000252.3(MTM1):c.126A>G (p.Thr42=)
|
rs782801257
|
0.00001
|
|
NM_000252.3(MTM1):c.1290C>T (p.Thr430=)
|
rs374725419
|
0.00001
|
|
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys)
|
rs782664128
|
0.00001
|
|
NM_000252.3(MTM1):c.1353+7A>C
|
rs782203723
|
0.00001
|
|
NM_000252.3(MTM1):c.1354-6G>A
|
rs1235590737
|
0.00001
|
|
NM_000252.3(MTM1):c.136+10T>G
|
rs782382879
|
0.00001
|
|
NM_000252.3(MTM1):c.136+7A>T
|
rs782025629
|
0.00001
|
|
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val)
|
rs782137551
|
0.00001
|
|
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln)
|
rs782032230
|
0.00001
|
|
NM_000252.3(MTM1):c.1468-10C>T
|
rs782174623
|
0.00001
|
|
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile)
|
rs782705509
|
0.00001
|
|
NM_000252.3(MTM1):c.1678C>T (p.Leu560Phe)
|
rs1557415135
|
0.00001
|
|
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln)
|
rs782469735
|
0.00001
|
|
NM_000252.3(MTM1):c.1719A>G (p.Glu573=)
|
rs1557415144
|
0.00001
|
|
NM_000252.3(MTM1):c.1740C>G (p.Ala580=)
|
rs782365703
|
0.00001
|
|
NM_000252.3(MTM1):c.231+10A>G
|
rs1231679121
|
0.00001
|
|
NM_000252.3(MTM1):c.258T>C (p.Pro86=)
|
rs782702345
|
0.00001
|
|
NM_000252.3(MTM1):c.272C>T (p.Ser91Leu)
|
rs782148152
|
0.00001
|
|
NM_000252.3(MTM1):c.420C>T (p.Tyr140=)
|
rs587783825
|
0.00001
|
|
NM_000252.3(MTM1):c.426T>C (p.Phe142=)
|
rs1443261976
|
0.00001
|
|
NM_000252.3(MTM1):c.444+16C>G
|
rs1057523163
|
0.00001
|
|
NM_000252.3(MTM1):c.447A>G (p.Pro149=)
|
rs782149231
|
0.00001
|
|
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser)
|
rs781995404
|
0.00001
|
|
NM_000252.3(MTM1):c.570G>A (p.Lys190=)
|
rs782411810
|
0.00001
|
|
NM_000252.3(MTM1):c.603T>C (p.Leu201=)
|
rs1557413854
|
0.00001
|
|
NM_000252.3(MTM1):c.646G>A (p.Val216Ile)
|
rs782156492
|
0.00001
|
|
NM_000252.3(MTM1):c.65C>T (p.Thr22Met)
|
rs781886721
|
0.00001
|
|
NM_000252.3(MTM1):c.681G>C (p.Val227=)
|
rs1557413955
|
0.00001
|
|
NM_000252.3(MTM1):c.783C>T (p.Leu261=)
|
rs187394611
|
0.00001
|
|
NM_000252.3(MTM1):c.788T>G (p.Val263Gly)
|
rs782573475
|
0.00001
|
|
NM_000252.3(MTM1):c.867+4A>T
|
rs1322584849
|
0.00001
|
|
NM_000252.3(MTM1):c.867+8G>A
|
rs782431909
|
0.00001
|
|
NM_000252.3(MTM1):c.868-9del
|
rs1372652199
|
0.00001
|
|
NM_000252.3(MTM1):c.885T>C (p.Tyr295=)
|
rs1017890631
|
0.00001
|
|
NM_000252.3(MTM1):c.909C>T (p.Asn303=)
|
rs199984259
|
0.00001
|
|
NM_000252.3(MTM1):c.911C>T (p.Ala304Val)
|
rs781871854
|
0.00001
|
|
NM_000252.3(MTM1):c.931A>G (p.Ile311Val)
|
rs782444216
|
0.00001
|
|
NM_000252.3(MTM1):c.945T>C (p.His315=)
|
rs376178048
|
0.00001
|
|
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln)
|
rs782462553
|
0.00001
|
|
NM_000252.3(MTM1):c.954G>C (p.Arg318=)
|
rs1557414126
|
0.00001
|
|
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu)
|
rs1557007203
|
0.00001
|
|
NM_000377.3(WAS):c.1130G>A (p.Arg377His)
|
rs868995772
|
0.00001
|
|
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)
|
rs895243178
|
0.00001
|
|
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)
|
rs782602857
|
0.00001
|
|
NM_000377.3(WAS):c.1255C>A (p.Leu419Met)
|
rs1422863482
|
0.00001
|
|
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe)
|
rs782605668
|
0.00001
|
|
NM_000377.3(WAS):c.1303T>C (p.Leu435=)
|
rs1557007338
|
0.00001
|
|
NM_000377.3(WAS):c.1338+8C>T
|
rs782158640
|
0.00001
|
|
NM_000377.3(WAS):c.1339-4G>A
|
rs782436940
|
0.00001
|
|
NM_000377.3(WAS):c.1407C>T (p.Ala469=)
|
rs782264561
|
0.00001
|
|
NM_000377.3(WAS):c.1416C>T (p.His472=)
|
rs377442612
|
0.00001
|
|
NM_000377.3(WAS):c.1425G>A (p.Gln475=)
|
rs1351097717
|
0.00001
|
|
NM_000377.3(WAS):c.1479T>C (p.Asp493=)
|
rs782452466
|
0.00001
|
|
NM_000377.3(WAS):c.184G>C (p.Glu62Gln)
|
rs141605347
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_000377.3(WAS):c.327C>G (p.Thr109=)
|
rs1288545461
|
0.00001
|
|
NM_000377.3(WAS):c.360+8A>G
|
rs1557006508
|
0.00001
|
|
NM_000377.3(WAS):c.411C>T (p.Phe137=)
|
rs1474269671
|
0.00001
|
|
NM_000377.3(WAS):c.458G>T (p.Ser153Ile)
|
rs1557006588
|
0.00001
|
|
NM_000377.3(WAS):c.459T>G (p.Ser153Arg)
|
rs1557006590
|
0.00001
|
|
NM_000377.3(WAS):c.505+3_505+7dup
|
rs1557006628
|
0.00001
|
|
NM_000377.3(WAS):c.68C>G (p.Pro23Arg)
|
rs1464176187
|
0.00001
|
|
NM_000377.3(WAS):c.74C>T (p.Thr25Ile)
|
rs374574436
|
0.00001
|
|
NM_000377.3(WAS):c.844A>G (p.Thr282Ala)
|
rs1557007029
|
0.00001
|
|
NM_000377.3(WAS):c.849C>T (p.Asp283=)
|
rs1557007034
|
0.00001
|
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
|
NM_000377.3(WAS):c.926G>A (p.Arg309His)
|
rs1557007058
|
0.00001
|
|
NM_000377.3(WAS):c.946C>A (p.Pro316Thr)
|
rs372779500
|
0.00001
|
|
NM_000377.3(WAS):c.954G>A (p.Pro318=)
|
rs1366022019
|
0.00001
|
|
NM_000377.3(WAS):c.962G>A (p.Arg321Gln)
|
rs782802310
|
0.00001
|
|
NM_000377.3(WAS):c.982C>T (p.Arg328Trp)
|
rs1395979315
|
0.00001
|
|
NM_000377.3(WAS):c.985C>G (p.Pro329Ala)
|
rs1557007136
|
0.00001
|
|
NM_000377.3(WAS):c.989C>T (p.Pro330Leu)
|
rs1178247738
|
0.00001
|
|
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn)
|
rs1213986618
|
0.00001
|
|
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=)
|
rs990602963
|
0.00001
|
|
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=)
|
rs572970359
|
0.00001
|
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
|
NM_000475.5(NR0B1):c.90A>G (p.Pro30=)
|
rs777399647
|
0.00001
|
|
NM_000489.6(ATRX):c.1001C>T (p.Ser334Phe)
|
rs1557142507
|
0.00001
|
|
NM_000489.6(ATRX):c.1004G>C (p.Cys335Ser)
|
rs782395663
|
0.00001
|
|
NM_000489.6(ATRX):c.1023C>T (p.Tyr341=)
|
rs1557142453
|
0.00001
|
|
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu)
|
rs1557142408
|
0.00001
|
|
NM_000489.6(ATRX):c.1110T>C (p.Tyr370=)
|
rs371831155
|
0.00001
|
|
NM_000489.6(ATRX):c.1111G>C (p.Val371Leu)
|
rs782128117
|
0.00001
|
|
NM_000489.6(ATRX):c.1150A>C (p.Ser384Arg)
|
rs782196033
|
0.00001
|
|
NM_000489.6(ATRX):c.1182T>C (p.Ala394=)
|
rs1557142198
|
0.00001
|
|
NM_000489.6(ATRX):c.1202A>G (p.Asp401Gly)
|
rs2071414010
|
0.00001
|
|
NM_000489.6(ATRX):c.1206T>A (p.Ile402=)
|
rs782635950
|
0.00001
|
|
NM_000489.6(ATRX):c.1236C>A (p.Asp412Glu)
|
rs951634317
|
0.00001
|
|
NM_000489.6(ATRX):c.1244C>A (p.Ser415Tyr)
|
rs1287938208
|
0.00001
|
|
NM_000489.6(ATRX):c.1246G>A (p.Glu416Lys)
|
rs782253905
|
0.00001
|
|
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)
|
rs1557142053
|
0.00001
|
|
NM_000489.6(ATRX):c.1261G>A (p.Asp421Asn)
|
rs1557142034
|
0.00001
|
|
NM_000489.6(ATRX):c.1272C>G (p.Asn424Lys)
|
rs1557141981
|
0.00001
|
|
NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln)
|
rs782508808
|
0.00001
|
|
NM_000489.6(ATRX):c.1304T>C (p.Ile435Thr)
|
rs782723442
|
0.00001
|
|
NM_000489.6(ATRX):c.133+10A>G
|
rs782623596
|
0.00001
|
|
NM_000489.6(ATRX):c.1331G>A (p.Arg444Gln)
|
rs781932965
|
0.00001
|
|
NM_000489.6(ATRX):c.1332A>G (p.Arg444=)
|
rs782807071
|
0.00001
|
|
NM_000489.6(ATRX):c.1344A>G (p.Lys448=)
|
rs1358073611
|
0.00001
|
|
NM_000489.6(ATRX):c.1346C>G (p.Pro449Arg)
|
rs782163488
|
0.00001
|
|
NM_000489.6(ATRX):c.1366G>A (p.Asp456Asn)
|
rs782313786
|
0.00001
|
|
NM_000489.6(ATRX):c.1380A>G (p.Ser460=)
|
rs1242270081
|
0.00001
|
|
NM_000489.6(ATRX):c.1390C>G (p.Leu464Val)
|
rs202011714
|
0.00001
|
|
NM_000489.6(ATRX):c.1412G>T (p.Ser471Ile)
|
rs1557141731
|
0.00001
|
|
NM_000489.6(ATRX):c.1414G>A (p.Glu472Lys)
|
rs782593283
|
0.00001
|
|
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile)
|
rs782751824
|
0.00001
|
|
NM_000489.6(ATRX):c.1449A>G (p.Gln483=)
|
rs1472962089
|
0.00001
|
|
NM_000489.6(ATRX):c.1477C>T (p.His493Tyr)
|
rs1041529012
|
0.00001
|
|
NM_000489.6(ATRX):c.1492A>G (p.Arg498Gly)
|
rs781942266
|
0.00001
|
|
NM_000489.6(ATRX):c.1526C>G (p.Thr509Ser)
|
rs1557141410
|
0.00001
|
|
NM_000489.6(ATRX):c.1551T>C (p.Ile517=)
|
rs782219426
|
0.00001
|
|
NM_000489.6(ATRX):c.1615C>G (p.Gln539Glu)
|
rs782329833
|
0.00001
|
|
NM_000489.6(ATRX):c.1631A>G (p.His544Arg)
|
rs1464531189
|
0.00001
|
|
NM_000489.6(ATRX):c.1646G>C (p.Ser549Thr)
|
rs1557141087
|
0.00001
|
|
NM_000489.6(ATRX):c.1649G>T (p.Ser550Ile)
|
rs782422536
|
0.00001
|
|
NM_000489.6(ATRX):c.1659A>G (p.Glu553=)
|
rs782238205
|
0.00001
|
|
NM_000489.6(ATRX):c.1669G>C (p.Glu557Gln)
|
rs782332325
|
0.00001
|
|
NM_000489.6(ATRX):c.167T>C (p.Met56Thr)
|
rs782553856
|
0.00001
|
|
NM_000489.6(ATRX):c.16A>G (p.Met6Val)
|
rs782080475
|
0.00001
|
|
NM_000489.6(ATRX):c.1709A>G (p.Asn570Ser)
|
rs782517450
|
0.00001
|
|
NM_000489.6(ATRX):c.1717G>T (p.Gly573Cys)
|
rs782746892
|
0.00001
|
|
NM_000489.6(ATRX):c.1755A>G (p.Glu585=)
|
rs2071369876
|
0.00001
|
|
NM_000489.6(ATRX):c.177C>T (p.Asn59=)
|
rs782250182
|
0.00001
|
|
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
|
rs1205903424
|
0.00001
|
|
NM_000489.6(ATRX):c.189+11T>C
|
rs905685078
|
0.00001
|
|
NM_000489.6(ATRX):c.1894G>A (p.Glu632Lys)
|
rs1557140572
|
0.00001
|
|
NM_000489.6(ATRX):c.18G>A (p.Met6Ile)
|
rs2076734106
|
0.00001
|
|
NM_000489.6(ATRX):c.190-11C>T
|
rs1279814829
|
0.00001
|
|
NM_000489.6(ATRX):c.190-6A>G
|
rs782620881
|
0.00001
|
|
NM_000489.6(ATRX):c.1952C>G (p.Ser651Cys)
|
rs1557140502
|
0.00001
|
|
NM_000489.6(ATRX):c.1960C>G (p.Arg654Gly)
|
rs1557140492
|
0.00001
|
|
NM_000489.6(ATRX):c.1983T>C (p.Thr661=)
|
rs1557140457
|
0.00001
|
|
NM_000489.6(ATRX):c.1995G>A (p.Arg665=)
|
rs782517014
|
0.00001
|
|
NM_000489.6(ATRX):c.2014C>G (p.Pro672Ala)
|
rs1385116529
|
0.00001
|
|
NM_000489.6(ATRX):c.2057A>G (p.Lys686Arg)
|
rs1557140371
|
0.00001
|
|
NM_000489.6(ATRX):c.2064A>G (p.Lys688=)
|
rs781991929
|
0.00001
|
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
|
NM_000489.6(ATRX):c.2083G>C (p.Val695Leu)
|
rs571313578
|
0.00001
|
|
NM_000489.6(ATRX):c.2116A>T (p.Ser706Cys)
|
rs918710917
|
0.00001
|
|
NM_000489.6(ATRX):c.2127T>C (p.Asp709=)
|
rs2071345590
|
0.00001
|
|
NM_000489.6(ATRX):c.2145A>G (p.Lys715=)
|
rs782141994
|
0.00001
|
|
NM_000489.6(ATRX):c.2176G>C (p.Asp726His)
|
rs782384208
|
0.00001
|
|
NM_000489.6(ATRX):c.2209A>G (p.Ile737Val)
|
rs782110483
|
0.00001
|
|
NM_000489.6(ATRX):c.224G>T (p.Gly75Val)
|
rs782198677
|
0.00001
|
|
NM_000489.6(ATRX):c.2292G>C (p.Leu764Phe)
|
rs1557139933
|
0.00001
|
|
NM_000489.6(ATRX):c.2343A>G (p.Arg781=)
|
rs782076062
|
0.00001
|
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
|
NM_000489.6(ATRX):c.2383G>C (p.Gly795Arg)
|
rs1557139793
|
0.00001
|
|
NM_000489.6(ATRX):c.2389T>C (p.Ser797Pro)
|
rs782418110
|
0.00001
|
|
NM_000489.6(ATRX):c.2409T>G (p.Ile803Met)
|
rs782348869
|
0.00001
|
|
NM_000489.6(ATRX):c.242+7T>G
|
rs1557150666
|
0.00001
|
|
NM_000489.6(ATRX):c.2422C>A (p.Arg808=)
|
rs891068548
|
0.00001
|
|
NM_000489.6(ATRX):c.2433G>C (p.Gln811His)
|
rs1557139658
|
0.00001
|
|
NM_000489.6(ATRX):c.2454C>T (p.Asp818=)
|
rs1557139634
|
0.00001
|
|
NM_000489.6(ATRX):c.2457A>G (p.Ser819=)
|
rs1051441832
|
0.00001
|
|
NM_000489.6(ATRX):c.2460A>G (p.Glu820=)
|
rs1557139617
|
0.00001
|
|
NM_000489.6(ATRX):c.2472G>C (p.Glu824Asp)
|
rs1557139572
|
0.00001
|
|
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn)
|
rs897147546
|
0.00001
|
|
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser)
|
rs1557139497
|
0.00001
|
|
NM_000489.6(ATRX):c.2499T>C (p.Ala833=)
|
rs781983620
|
0.00001
|
|
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)
|
rs587778085
|
0.00001
|
|
NM_000489.6(ATRX):c.2521A>G (p.Ile841Val)
|
rs781978542
|
0.00001
|
|
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)
|
rs797045405
|
0.00001
|
|
NM_000489.6(ATRX):c.254T>A (p.Ile85Asn)
|
rs1402319857
|
0.00001
|
|
NM_000489.6(ATRX):c.2592G>A (p.Gly864=)
|
rs782526944
|
0.00001
|
|
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr)
|
rs782057275
|
0.00001
|
|
NM_000489.6(ATRX):c.2609C>T (p.Thr870Ile)
|
rs143558145
|
0.00001
|
|
NM_000489.6(ATRX):c.2615A>T (p.Gln872Leu)
|
rs782162927
|
0.00001
|
|
NM_000489.6(ATRX):c.2617G>C (p.Glu873Gln)
|
rs967071645
|
0.00001
|
|
NM_000489.6(ATRX):c.2619A>G (p.Glu873=)
|
rs183498404
|
0.00001
|
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
|
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln)
|
rs782374254
|
0.00001
|
|
NM_000489.6(ATRX):c.2661T>C (p.Thr887=)
|
rs781845031
|
0.00001
|
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
|
NM_000489.6(ATRX):c.2695A>G (p.Thr899Ala)
|
rs2071278709
|
0.00001
|
|
NM_000489.6(ATRX):c.2714G>C (p.Arg905Thr)
|
rs1557139012
|
0.00001
|
|
NM_000489.6(ATRX):c.2744G>C (p.Ser915Thr)
|
rs782427910
|
0.00001
|
|
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)
|
rs587778088
|
0.00001
|
|
NM_000489.6(ATRX):c.2772T>C (p.Leu924=)
|
rs782238045
|
0.00001
|
|
NM_000489.6(ATRX):c.2775T>C (p.Ser925=)
|
rs139376742
|
0.00001
|
|
NM_000489.6(ATRX):c.2778G>A (p.Gly926=)
|
rs1419707341
|
0.00001
|
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
|
NM_000489.6(ATRX):c.2787G>C (p.Glu929Asp)
|
rs782283059
|
0.00001
|
|
NM_000489.6(ATRX):c.278A>T (p.Asp93Val)
|
rs1064796774
|
0.00001
|
|
NM_000489.6(ATRX):c.2793T>C (p.Phe931=)
|
rs1557138845
|
0.00001
|
|
NM_000489.6(ATRX):c.2794A>G (p.Thr932Ala)
|
rs1557138839
|
0.00001
|
|
NM_000489.6(ATRX):c.2820T>C (p.Ala940=)
|
rs782261448
|
0.00001
|
|
NM_000489.6(ATRX):c.2826T>A (p.Thr942=)
|
rs782329061
|
0.00001
|
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
|
NM_000489.6(ATRX):c.2890A>G (p.Ile964Val)
|
rs1271635013
|
0.00001
|
|
NM_000489.6(ATRX):c.2989G>A (p.Asp997Asn)
|
rs1557138410
|
0.00001
|
|
NM_000489.6(ATRX):c.3023A>G (p.Gln1008Arg)
|
rs1557138354
|
0.00001
|
|
NM_000489.6(ATRX):c.3030A>G (p.Glu1010=)
|
rs781816426
|
0.00001
|
|
NM_000489.6(ATRX):c.3092G>T (p.Gly1031Val)
|
rs782088552
|
0.00001
|
|
NM_000489.6(ATRX):c.3101A>G (p.Gln1034Arg)
|
rs1453048739
|
0.00001
|
|
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val)
|
rs781916347
|
0.00001
|
|
NM_000489.6(ATRX):c.3153T>G (p.Asp1051Glu)
|
rs1453641319
|
0.00001
|
|
NM_000489.6(ATRX):c.3163A>G (p.Lys1055Glu)
|
rs782258081
|
0.00001
|
|
NM_000489.6(ATRX):c.3183T>C (p.Ser1061=)
|
rs782580932
|
0.00001
|
|
NM_000489.6(ATRX):c.3192T>G (p.Ala1064=)
|
rs782553263
|
0.00001
|
|
NM_000489.6(ATRX):c.3206G>A (p.Gly1069Glu)
|
rs1557137990
|
0.00001
|
|
NM_000489.6(ATRX):c.3210A>G (p.Lys1070=)
|
rs782634074
|
0.00001
|
|
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)
|
rs143621153
|
0.00001
|
|
NM_000489.6(ATRX):c.324T>C (p.Ser108=)
|
rs2072199898
|
0.00001
|
|
NM_000489.6(ATRX):c.3255A>C (p.Gly1085=)
|
rs782801097
|
0.00001
|
|
NM_000489.6(ATRX):c.3270G>C (p.Glu1090Asp)
|
rs781992894
|
0.00001
|
|
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=)
|
rs782279780
|
0.00001
|
|
NM_000489.6(ATRX):c.3314A>G (p.Gln1105Arg)
|
rs1569538747
|
0.00001
|
|
NM_000489.6(ATRX):c.3320G>A (p.Cys1107Tyr)
|
rs2071226540
|
0.00001
|
|
NM_000489.6(ATRX):c.3373T>C (p.Ser1125Pro)
|
rs1557137528
|
0.00001
|
|
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr)
|
rs587780285
|
0.00001
|
|
NM_000489.6(ATRX):c.3437C>A (p.Thr1146Asn)
|
rs368828845
|
0.00001
|
|
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr)
|
rs782073135
|
0.00001
|
|
NM_000489.6(ATRX):c.3455G>T (p.Gly1152Val)
|
rs782023982
|
0.00001
|
|
NM_000489.6(ATRX):c.3462A>G (p.Ser1154=)
|
rs782121260
|
0.00001
|
|
NM_000489.6(ATRX):c.3465A>G (p.Ser1155=)
|
rs1398718902
|
0.00001
|
|
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val)
|
rs782554626
|
0.00001
|
|
NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)
|
rs782696086
|
0.00001
|
|
NM_000489.6(ATRX):c.3564C>T (p.Ser1188=)
|
rs1428207455
|
0.00001
|
|
NM_000489.6(ATRX):c.357G>A (p.Gln119=)
|
rs959739617
|
0.00001
|
|
NM_000489.6(ATRX):c.357G>C (p.Gln119His)
|
rs959739617
|
0.00001
|
|
NM_000489.6(ATRX):c.3621T>C (p.Asp1207=)
|
rs782370433
|
0.00001
|
|
NM_000489.6(ATRX):c.3623T>C (p.Ile1208Thr)
|
rs374291079
|
0.00001
|
|
NM_000489.6(ATRX):c.3649G>C (p.Gly1217Arg)
|
rs781917332
|
0.00001
|
|
NM_000489.6(ATRX):c.3663C>T (p.Ser1221=)
|
rs1214349616
|
0.00001
|
|
NM_000489.6(ATRX):c.3687G>A (p.Val1229=)
|
rs1051682
|
0.00001
|
|
NM_000489.6(ATRX):c.3701T>G (p.Val1234Gly)
|
rs782816523
|
0.00001
|
|
NM_000489.6(ATRX):c.3729A>G (p.Gln1243=)
|
rs782100721
|
0.00001
|
|
NM_000489.6(ATRX):c.3768C>A (p.Val1256=)
|
rs782065949
|
0.00001
|
|
NM_000489.6(ATRX):c.3843A>G (p.Lys1281=)
|
rs782389922
|
0.00001
|
|
NM_000489.6(ATRX):c.3850C>T (p.Leu1284Phe)
|
rs782619383
|
0.00001
|
|
NM_000489.6(ATRX):c.3855C>T (p.Ser1285=)
|
rs1373544966
|
0.00001
|
|
NM_000489.6(ATRX):c.3884A>G (p.Glu1295Gly)
|
rs987127830
|
0.00001
|
|
NM_000489.6(ATRX):c.3885G>A (p.Glu1295=)
|
rs781858736
|
0.00001
|
|
NM_000489.6(ATRX):c.3905G>A (p.Arg1302Lys)
|
rs1557125110
|
0.00001
|
|
NM_000489.6(ATRX):c.4002A>T (p.Pro1334=)
|
rs782625886
|
0.00001
|
|
NM_000489.6(ATRX):c.4014T>C (p.His1338=)
|
rs1361253428
|
0.00001
|
|
NM_000489.6(ATRX):c.4015A>G (p.Arg1339Gly)
|
rs782438788
|
0.00001
|
|
NM_000489.6(ATRX):c.4025G>A (p.Arg1342Gln)
|
rs782802388
|
0.00001
|
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
|
NM_000489.6(ATRX):c.4046A>T (p.Asp1349Val)
|
rs1557124086
|
0.00001
|
|
NM_000489.6(ATRX):c.4047C>T (p.Asp1349=)
|
rs199625659
|
0.00001
|
|
NM_000489.6(ATRX):c.4048G>A (p.Gly1350Arg)
|
rs782726588
|
0.00001
|
|
NM_000489.6(ATRX):c.4072A>G (p.Thr1358Ala)
|
rs781912326
|
0.00001
|
|
NM_000489.6(ATRX):c.4073C>T (p.Thr1358Ile)
|
rs1557124033
|
0.00001
|
|
NM_000489.6(ATRX):c.4089T>C (p.His1363=)
|
rs1557124022
|
0.00001
|
|
NM_000489.6(ATRX):c.4177G>C (p.Val1393Leu)
|
rs147331649
|
0.00001
|
|
NM_000489.6(ATRX):c.4201C>T (p.Arg1401Trp)
|
rs1557119999
|
0.00001
|
|
NM_000489.6(ATRX):c.4203G>A (p.Arg1401=)
|
rs1399734659
|
0.00001
|
|
NM_000489.6(ATRX):c.4214+3_4214+6dup
|
rs1603106285
|
0.00001
|
|
NM_000489.6(ATRX):c.4249C>T (p.Arg1417Trp)
|
rs1557118764
|
0.00001
|
|
NM_000489.6(ATRX):c.4250G>A (p.Arg1417Gln)
|
rs1557118749
|
0.00001
|
|
NM_000489.6(ATRX):c.4317+8T>C
|
rs2069418640
|
0.00001
|
|
NM_000489.6(ATRX):c.4368G>A (p.Glu1456=)
|
rs1557117399
|
0.00001
|
|
NM_000489.6(ATRX):c.4443G>A (p.Arg1481=)
|
rs782381607
|
0.00001
|
|
NM_000489.6(ATRX):c.4482A>G (p.Gln1494=)
|
rs2069279265
|
0.00001
|
|
NM_000489.6(ATRX):c.4558-4G>C
|
rs1256242126
|
0.00001
|
|
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=)
|
rs782303976
|
0.00001
|
|
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=)
|
rs782707742
|
0.00001
|
|
NM_000489.6(ATRX):c.480C>T (p.Arg160=)
|
rs1422750101
|
0.00001
|
|
NM_000489.6(ATRX):c.4810-4dup
|
rs1189309413
|
0.00001
|
|
NM_000489.6(ATRX):c.4810-9T>C
|
rs782465769
|
0.00001
|
|
NM_000489.6(ATRX):c.481G>A (p.Gly161Arg)
|
rs1569540314
|
0.00001
|
|
NM_000489.6(ATRX):c.4837T>C (p.Leu1613=)
|
rs1557106749
|
0.00001
|
|
NM_000489.6(ATRX):c.4848A>G (p.Lys1616=)
|
rs1260145428
|
0.00001
|
|
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg)
|
rs782115900
|
0.00001
|
|
NM_000489.6(ATRX):c.4863G>A (p.Thr1621=)
|
rs782108010
|
0.00001
|
|
NM_000489.6(ATRX):c.4875T>G (p.Val1625=)
|
rs1557106699
|
0.00001
|
|
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile)
|
rs1045875195
|
0.00001
|
|
NM_000489.6(ATRX):c.5000A>G (p.Tyr1667Cys)
|
rs1557106489
|
0.00001
|
|
NM_000489.6(ATRX):c.5068G>A (p.Ala1690Thr)
|
rs2068194249
|
0.00001
|
|
NM_000489.6(ATRX):c.5114A>G (p.Asn1705Ser)
|
rs782709380
|
0.00001
|
|
NM_000489.6(ATRX):c.5175A>G (p.Lys1725=)
|
rs1557099296
|
0.00001
|
|
NM_000489.6(ATRX):c.5178T>C (p.Asn1726=)
|
rs781985999
|
0.00001
|
|
NM_000489.6(ATRX):c.5217A>C (p.Arg1739=)
|
rs1557099248
|
0.00001
|
|
NM_000489.6(ATRX):c.5273-19A>G
|
rs1278007263
|
0.00001
|
|
NM_000489.6(ATRX):c.5406A>G (p.Lys1802=)
|
rs1200376246
|
0.00001
|
|
NM_000489.6(ATRX):c.5448+10T>A
|
rs781958851
|
0.00001
|
|
NM_000489.6(ATRX):c.5448+4C>T
|
rs1557098428
|
0.00001
|
|
NM_000489.6(ATRX):c.5449-5T>C
|
rs781889439
|
0.00001
|
|
NM_000489.6(ATRX):c.5449-8A>G
|
rs782578376
|
0.00001
|
|
NM_000489.6(ATRX):c.5511G>A (p.Val1837=)
|
rs1557097029
|
0.00001
|
|
NM_000489.6(ATRX):c.5542C>G (p.Gln1848Glu)
|
rs1557096992
|
0.00001
|
|
NM_000489.6(ATRX):c.5559C>T (p.His1853=)
|
rs1557096973
|
0.00001
|
|
NM_000489.6(ATRX):c.5566+14C>T
|
rs1003519094
|
0.00001
|
|
NM_000489.6(ATRX):c.5567-6G>C
|
rs782742107
|
0.00001
|
|
NM_000489.6(ATRX):c.5589T>C (p.Gly1863=)
|
rs192385704
|
0.00001
|
|
NM_000489.6(ATRX):c.5591G>T (p.Gly1864Val)
|
rs151220806
|
0.00001
|
|
NM_000489.6(ATRX):c.5604A>G (p.Ala1868=)
|
rs1557086553
|
0.00001
|
|
NM_000489.6(ATRX):c.561T>C (p.Tyr187=)
|
rs1259166194
|
0.00001
|
|
NM_000489.6(ATRX):c.5786+5A>G
|
rs782475014
|
0.00001
|
|
NM_000489.6(ATRX):c.5786+8G>A
|
rs371884837
|
0.00001
|
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
|
NM_000489.6(ATRX):c.5799A>G (p.Lys1933=)
|
rs1557085918
|
0.00001
|
|
NM_000489.6(ATRX):c.5811G>A (p.Gly1937=)
|
rs1557085888
|
0.00001
|
|
NM_000489.6(ATRX):c.5927A>G (p.Asn1976Ser)
|
rs782151425
|
0.00001
|
|
NM_000489.6(ATRX):c.5935G>C (p.Val1979Leu)
|
rs782773652
|
0.00001
|
|
NM_000489.6(ATRX):c.594+8A>G
|
rs1557145476
|
0.00001
|
|
NM_000489.6(ATRX):c.5956+14A>G
|
rs782188755
|
0.00001
|
|
NM_000489.6(ATRX):c.5957-5T>C
|
rs371247036
|
0.00001
|
|
NM_000489.6(ATRX):c.5957-6A>G
|
rs781817248
|
0.00001
|
|
NM_000489.6(ATRX):c.5965A>G (p.Thr1989Ala)
|
rs1438449392
|
0.00001
|
|
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=)
|
rs1557079262
|
0.00001
|
|
NM_000489.6(ATRX):c.6172A>G (p.Ser2058Gly)
|
rs1473492502
|
0.00001
|
|
NM_000489.6(ATRX):c.6204C>T (p.Pro2068=)
|
rs782631268
|
0.00001
|
|
NM_000489.6(ATRX):c.6222G>A (p.Glu2074=)
|
rs782377870
|
0.00001
|
|
NM_000489.6(ATRX):c.6223G>A (p.Gly2075Arg)
|
rs1440854109
|
0.00001
|
|
NM_000489.6(ATRX):c.6240C>T (p.Asn2080=)
|
rs1557069232
|
0.00001
|
|
NM_000489.6(ATRX):c.6241A>G (p.Ile2081Val)
|
rs1210447127
|
0.00001
|
|
NM_000489.6(ATRX):c.631C>T (p.Arg211Cys)
|
rs782241890
|
0.00001
|
|
NM_000489.6(ATRX):c.6366A>C (p.Leu2122=)
|
rs1239403082
|
0.00001
|
|
NM_000489.6(ATRX):c.6414T>G (p.Ser2138=)
|
rs1557060338
|
0.00001
|
|
NM_000489.6(ATRX):c.6486A>G (p.Val2162=)
|
rs374952152
|
0.00001
|
|
NM_000489.6(ATRX):c.6489T>C (p.Tyr2163=)
|
rs782352246
|
0.00001
|
|
NM_000489.6(ATRX):c.6606T>C (p.Asn2202=)
|
rs782789594
|
0.00001
|
|
NM_000489.6(ATRX):c.663-16C>G
|
rs781981978
|
0.00001
|
|
NM_000489.6(ATRX):c.663-17T>C
|
rs782155630
|
0.00001
|
|
NM_000489.6(ATRX):c.6643T>C (p.Leu2215=)
|
rs782060162
|
0.00001
|
|
NM_000489.6(ATRX):c.6691C>T (p.Leu2231=)
|
rs1308577247
|
0.00001
|
|
NM_000489.6(ATRX):c.6700-6A>G
|
rs887572588
|
0.00001
|
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
|
NM_000489.6(ATRX):c.6885C>T (p.Thr2295=)
|
rs1557041874
|
0.00001
|
|
NM_000489.6(ATRX):c.6918T>C (p.Thr2306=)
|
rs1557041826
|
0.00001
|
|
NM_000489.6(ATRX):c.6927T>A (p.Ile2309=)
|
rs1557041797
|
0.00001
|
|
NM_000489.6(ATRX):c.6933C>T (p.Phe2311=)
|
rs1557041781
|
0.00001
|
|
NM_000489.6(ATRX):c.699C>T (p.Asp233=)
|
rs782623313
|
0.00001
|
|
NM_000489.6(ATRX):c.7066G>T (p.Ala2356Ser)
|
rs1339589345
|
0.00001
|
|
NM_000489.6(ATRX):c.7071+9A>G
|
rs1227242737
|
0.00001
|
|
NM_000489.6(ATRX):c.7072-3T>C
|
rs782686541
|
0.00001
|
|
NM_000489.6(ATRX):c.7072-8T>C
|
rs782602387
|
0.00001
|
|
NM_000489.6(ATRX):c.7168A>G (p.Ile2390Val)
|
rs1049073136
|
0.00001
|
|
NM_000489.6(ATRX):c.7320G>A (p.Lys2440=)
|
rs149242238
|
0.00001
|
|
NM_000489.6(ATRX):c.7379A>G (p.Tyr2460Cys)
|
rs782169215
|
0.00001
|
|
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile)
|
rs782416494
|
0.00001
|
|
NM_000489.6(ATRX):c.7421G>A (p.Arg2474His)
|
rs781835425
|
0.00001
|
|
NM_000489.6(ATRX):c.7428A>T (p.Pro2476=)
|
rs1557034710
|
0.00001
|
|
NM_000489.6(ATRX):c.7429C>A (p.Pro2477Thr)
|
rs1557034699
|
0.00001
|
|
NM_000489.6(ATRX):c.7474A>G (p.Met2492Val)
|
rs782741679
|
0.00001
|
|
NM_000489.6(ATRX):c.815C>G (p.Pro272Arg)
|
rs782487127
|
0.00001
|
|
NM_000489.6(ATRX):c.847G>A (p.Val283Ile)
|
rs1057522580
|
0.00001
|
|
NM_000489.6(ATRX):c.909A>G (p.Glu303=)
|
rs1557142630
|
0.00001
|
|
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser)
|
rs782367711
|
0.00001
|
|
NM_000489.6(ATRX):c.931C>T (p.His311Tyr)
|
rs2071433222
|
0.00001
|
|
NM_000489.6(ATRX):c.952A>G (p.Lys318Glu)
|
rs2071431960
|
0.00001
|
|
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)
|
rs760978695
|
0.00001
|
|
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)
|
rs762897039
|
0.00001
|
|
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln)
|
rs750866615
|
0.00001
|
|
NM_001079872.2(CUL4B):c.1324+9C>A
|
rs751888920
|
0.00001
|
|
NM_001079872.2(CUL4B):c.1444-4T>G
|
rs766196936
|
0.00001
|
|
NM_001079872.2(CUL4B):c.2266+4T>A
|
rs747816205
|
0.00001
|
|
NM_001079872.2(CUL4B):c.228A>G (p.Ala76=)
|
rs972696850
|
0.00001
|
|
NM_001079872.2(CUL4B):c.2593-18A>C
|
rs1297445532
|
0.00001
|
|
NM_001079872.2(CUL4B):c.270T>C (p.Ala90=)
|
rs371312556
|
0.00001
|
|
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)
|
rs755306871
|
0.00001
|
|
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile)
|
rs367660624
|
0.00001
|
|
NM_001082486.1(ACD):c.107G>A (p.Gly36Glu)
|
rs527307806
|
0.00001
|
|
NM_001082486.1(ACD):c.122A>C (p.Gln41Pro)
|
rs755584473
|
0.00001
|
|
NM_001082486.1(ACD):c.125C>A (p.Ala42Glu)
|
rs1396620065
|
0.00001
|
|
NM_001082486.1(ACD):c.131G>T (p.Gly44Val)
|
rs756883228
|
0.00001
|
|
NM_001082486.1(ACD):c.174G>A (p.Lys58=)
|
rs780457506
|
0.00001
|
|
NM_001082486.1(ACD):c.215C>A (p.Ala72Glu)
|
rs765105630
|
0.00001
|
|
NM_001082486.1(ACD):c.67G>C (p.Gly23Arg)
|
rs760222002
|
0.00001
|
|
NM_001082486.1(ACD):c.77G>C (p.Ser26Thr)
|
rs781229512
|
0.00001
|
|
NM_001082486.1(ACD):c.91A>G (p.Thr31Ala)
|
rs949049586
|
0.00001
|
|
NM_001082486.1(ACD):c.97C>T (p.Pro33Ser)
|
rs776842448
|
0.00001
|
|
NM_001082486.2(ACD):c.-1G>C
|
rs1432567553
|
0.00001
|
|
NM_001082486.2(ACD):c.-20C>T
|
rs148124985
|
0.00001
|
|
NM_001082486.2(ACD):c.-37C>T
|
rs1377497479
|
0.00001
|
|
NM_001082486.2(ACD):c.1002C>T (p.Ser334=)
|
rs372195324
|
0.00001
|
|
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn)
|
rs368783801
|
0.00001
|
|
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala)
|
rs745338439
|
0.00001
|
|
NM_001082486.2(ACD):c.1032C>T (p.Cys344=)
|
rs776364958
|
0.00001
|
|
NM_001082486.2(ACD):c.1046del (p.Ser349fs)
|
rs1291433639
|
0.00001
|
|
NM_001082486.2(ACD):c.1052G>A (p.Arg351His)
|
rs370293582
|
0.00001
|
|
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser)
|
rs757414908
|
0.00001
|
|
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser)
|
rs996525402
|
0.00001
|
|
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu)
|
rs772867895
|
0.00001
|
|
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp)
|
rs747913250
|
0.00001
|
|
NM_001082486.2(ACD):c.114C>G (p.Ala38=)
|
rs756189227
|
0.00001
|
|
NM_001082486.2(ACD):c.1158T>C (p.Phe386=)
|
rs1371779126
|
0.00001
|
|
NM_001082486.2(ACD):c.1167C>T (p.Thr389=)
|
rs370757729
|
0.00001
|
|
NM_001082486.2(ACD):c.1205G>A (p.Trp402Ter)
|
rs761750721
|
0.00001
|
|
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser)
|
rs779041176
|
0.00001
|
|
NM_001082486.2(ACD):c.124G>A (p.Val42Ile)
|
rs758513965
|
0.00001
|
|
NM_001082486.2(ACD):c.1262C>G (p.Pro421Arg)
|
rs149418249
|
0.00001
|
|
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp)
|
rs775323156
|
0.00001
|
|
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln)
|
rs1397584716
|
0.00001
|
|
NM_001082486.2(ACD):c.1299-16G>A
|
rs746378955
|
0.00001
|
|
NM_001082486.2(ACD):c.15G>T (p.Gly5=)
|
rs1032620777
|
0.00001
|
|
NM_001082486.2(ACD):c.170C>T (p.Thr57Met)
|
rs1383980242
|
0.00001
|
|
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe)
|
rs368387402
|
0.00001
|
|
NM_001082486.2(ACD):c.186C>T (p.Asp62=)
|
rs998982026
|
0.00001
|
|
NM_001082486.2(ACD):c.242+8G>A
|
rs1402954442
|
0.00001
|
|
NM_001082486.2(ACD):c.261C>A (p.Gly87=)
|
rs752019137
|
0.00001
|
|
NM_001082486.2(ACD):c.337-10A>C
|
rs566079044
|
0.00001
|
|
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys)
|
rs775602659
|
0.00001
|
|
NM_001082486.2(ACD):c.414-5C>A
|
rs372700670
|
0.00001
|
|
NM_001082486.2(ACD):c.486C>T (p.Ser162=)
|
rs777238079
|
0.00001
|
|
NM_001082486.2(ACD):c.494-10_494-9del
|
rs1190418028
|
0.00001
|
|
NM_001082486.2(ACD):c.494-11C>T
|
rs368882788
|
0.00001
|
|
NM_001082486.2(ACD):c.494-3C>G
|
rs1173572864
|
0.00001
|
|
NM_001082486.2(ACD):c.4G>C (p.Ala2Pro)
|
rs1435126124
|
0.00001
|
|
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile)
|
rs144087853
|
0.00001
|
|
NM_001082486.2(ACD):c.590G>T (p.Gly197Val)
|
rs780160617
|
0.00001
|
|
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu)
|
rs1445067662
|
0.00001
|
|
NM_001082486.2(ACD):c.631C>T (p.Arg211Ter)
|
rs1339068886
|
0.00001
|
|
NM_001082486.2(ACD):c.632G>A (p.Arg211Gln)
|
rs146270351
|
0.00001
|
|
NM_001082486.2(ACD):c.644C>T (p.Thr215Met)
|
rs72547495
|
0.00001
|
|
NM_001082486.2(ACD):c.645G>A (p.Thr215=)
|
rs571116752
|
0.00001
|
|
NM_001082486.2(ACD):c.666C>T (p.Val222=)
|
rs374438854
|
0.00001
|
|
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr)
|
rs1039048796
|
0.00001
|
|
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr)
|
rs748280747
|
0.00001
|
|
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr)
|
rs752793753
|
0.00001
|
|
NM_001082486.2(ACD):c.693G>A (p.Glu231=)
|
rs780267725
|
0.00001
|
|
NM_001082486.2(ACD):c.696T>C (p.Asn232=)
|
rs544679646
|
0.00001
|
|
NM_001082486.2(ACD):c.711G>T (p.Leu237=)
|
rs1212715141
|
0.00001
|
|
NM_001082486.2(ACD):c.725C>T (p.Pro242Leu)
|
rs139256582
|
0.00001
|
|
NM_001082486.2(ACD):c.742+4A>G
|
rs1380521995
|
0.00001
|
|
NM_001082486.2(ACD):c.743-4C>A
|
rs1455941784
|
0.00001
|
|
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu)
|
rs754631809
|
0.00001
|
|
NM_001082486.2(ACD):c.781C>G (p.Leu261Val)
|
rs760404492
|
0.00001
|
|
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu)
|
rs1035052101
|
0.00001
|
|
NM_001082486.2(ACD):c.829+10T>C
|
rs1332514211
|
0.00001
|
|
NM_001082486.2(ACD):c.830-12C>T
|
rs748678952
|
0.00001
|
|
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu)
|
rs1370466465
|
0.00001
|
|
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly)
|
rs779705657
|
0.00001
|
|
NM_001082486.2(ACD):c.85G>C (p.Gly29Arg)
|
rs754815475
|
0.00001
|
|
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys)
|
rs200298308
|
0.00001
|
|
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn)
|
rs760978454
|
0.00001
|
|
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn)
|
rs748834837
|
0.00001
|
|
NM_001082486.2(ACD):c.99+3G>A
|
rs1189416936
|
0.00001
|
|
NM_001110556.2(FLNA):c.1008C>T (p.Asn336=)
|
rs781823583
|
0.00001
|
|
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn)
|
rs782696220
|
0.00001
|
|
NM_001110556.2(FLNA):c.1045G>A (p.Glu349Lys)
|
rs370490152
|
0.00001
|
|
NM_001110556.2(FLNA):c.1052C>T (p.Thr351Met)
|
rs1287585684
|
0.00001
|
|
NM_001110556.2(FLNA):c.1053G>T (p.Thr351=)
|
rs1557179338
|
0.00001
|
|
NM_001110556.2(FLNA):c.1065+15del
|
rs1237199633
|
0.00001
|
|
NM_001110556.2(FLNA):c.1096G>A (p.Ala366Thr)
|
rs781805670
|
0.00001
|
|
NM_001110556.2(FLNA):c.1104C>T (p.Ser368=)
|
rs782729654
|
0.00001
|
|
NM_001110556.2(FLNA):c.1111G>A (p.Glu371Lys)
|
rs1557179279
|
0.00001
|
|
NM_001110556.2(FLNA):c.1114G>T (p.Val372Leu)
|
rs781848457
|
0.00001
|
|
NM_001110556.2(FLNA):c.1124A>G (p.Asp375Gly)
|
rs782331362
|
0.00001
|
|
NM_001110556.2(FLNA):c.1138G>A (p.Asp380Asn)
|
rs782090266
|
0.00001
|
|
NM_001110556.2(FLNA):c.1140C>T (p.Asp380=)
|
rs781972297
|
0.00001
|
|
NM_001110556.2(FLNA):c.1170C>A (p.Gly390=)
|
rs1603362865
|
0.00001
|
|
NM_001110556.2(FLNA):c.1188C>T (p.Asn396=)
|
rs782572656
|
0.00001
|
|
NM_001110556.2(FLNA):c.1200G>T (p.Lys400Asn)
|
rs781879374
|
0.00001
|
|
NM_001110556.2(FLNA):c.1222A>G (p.Thr408Ala)
|
rs782041563
|
0.00001
|
|
NM_001110556.2(FLNA):c.1228+19G>A
|
rs782163303
|
0.00001
|
|
NM_001110556.2(FLNA):c.1229-14G>A
|
rs782374899
|
0.00001
|
|
NM_001110556.2(FLNA):c.1229-7G>A
|
rs782221228
|
0.00001
|
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
|
NM_001110556.2(FLNA):c.1287G>A (p.Thr429=)
|
rs782263267
|
0.00001
|
|
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile)
|
rs1557179208
|
0.00001
|
|
NM_001110556.2(FLNA):c.1346C>A (p.Thr449Asn)
|
rs1304244536
|
0.00001
|
|
NM_001110556.2(FLNA):c.1349T>C (p.Met450Thr)
|
rs1360400826
|
0.00001
|
|
NM_001110556.2(FLNA):c.1359C>T (p.Val453=)
|
rs781810182
|
0.00001
|
|
NM_001110556.2(FLNA):c.1371C>T (p.His457=)
|
rs202112979
|
0.00001
|
|
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile)
|
rs782791907
|
0.00001
|
|
NM_001110556.2(FLNA):c.1377G>A (p.Thr459=)
|
rs782029838
|
0.00001
|
|
NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys)
|
rs367948333
|
0.00001
|
|
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp)
|
rs1557179125
|
0.00001
|
|
NM_001110556.2(FLNA):c.1430-3C>T
|
rs782813433
|
0.00001
|
|
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu)
|
rs782168634
|
0.00001
|
|
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=)
|
rs782650242
|
0.00001
|
|
NM_001110556.2(FLNA):c.1463G>A (p.Arg488Gln)
|
rs1315056698
|
0.00001
|
|
NM_001110556.2(FLNA):c.1555G>A (p.Val519Met)
|
rs938952718
|
0.00001
|
|
NM_001110556.2(FLNA):c.1568-19G>A
|
rs782606152
|
0.00001
|
|
NM_001110556.2(FLNA):c.1608C>T (p.Gly536=)
|
rs782699813
|
0.00001
|
|
NM_001110556.2(FLNA):c.1613A>G (p.Tyr538Cys)
|
rs1557178932
|
0.00001
|
|
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile)
|
rs863223619
|
0.00001
|
|
NM_001110556.2(FLNA):c.1674T>C (p.Gly558=)
|
rs1557178895
|
0.00001
|
|
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg)
|
rs781806203
|
0.00001
|
|
NM_001110556.2(FLNA):c.1686G>A (p.Gly562=)
|
rs782730676
|
0.00001
|
|
NM_001110556.2(FLNA):c.1687C>T (p.Arg563Cys)
|
rs782477178
|
0.00001
|
|
NM_001110556.2(FLNA):c.1688G>A (p.Arg563His)
|
rs781852373
|
0.00001
|
|
NM_001110556.2(FLNA):c.1691+14G>A
|
rs781921715
|
0.00001
|
|
NM_001110556.2(FLNA):c.1692-10G>A
|
rs199740539
|
0.00001
|
|
NM_001110556.2(FLNA):c.1692-11C>G
|
rs782228432
|
0.00001
|
|
NM_001110556.2(FLNA):c.1692-12T>A
|
rs1557178858
|
0.00001
|
|
NM_001110556.2(FLNA):c.1692-3C>T
|
rs781904011
|
0.00001
|
|
NM_001110556.2(FLNA):c.16T>C (p.Ser6Pro)
|
rs1557180289
|
0.00001
|
|
NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys)
|
rs1399359867
|
0.00001
|
|
NM_001110556.2(FLNA):c.1742C>T (p.Ala581Val)
|
rs2067744394
|
0.00001
|
|
NM_001110556.2(FLNA):c.1765G>A (p.Gly589Ser)
|
rs782371876
|
0.00001
|
|
NM_001110556.2(FLNA):c.1770C>T (p.Val590=)
|
rs782619869
|
0.00001
|
|
NM_001110556.2(FLNA):c.1794G>A (p.Val598=)
|
rs368304859
|
0.00001
|
|
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe)
|
rs782780394
|
0.00001
|
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
|
NM_001110556.2(FLNA):c.1829-10C>T
|
rs1198347099
|
0.00001
|
|
NM_001110556.2(FLNA):c.1829-6T>C
|
rs907386716
|
0.00001
|
|
NM_001110556.2(FLNA):c.1829-8G>A
|
rs782287295
|
0.00001
|
|
NM_001110556.2(FLNA):c.1836G>A (p.Ser612=)
|
rs1461515007
|
0.00001
|
|
NM_001110556.2(FLNA):c.1851G>A (p.Ser617=)
|
rs782587128
|
0.00001
|
|
NM_001110556.2(FLNA):c.1863C>A (p.Ile621=)
|
rs781852981
|
0.00001
|
|
NM_001110556.2(FLNA):c.1863C>T (p.Ile621=)
|
rs781852981
|
0.00001
|
|
NM_001110556.2(FLNA):c.1872C>T (p.Asp624=)
|
rs1557178770
|
0.00001
|
|
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn)
|
rs1557178769
|
0.00001
|
|
NM_001110556.2(FLNA):c.1963C>T (p.Arg655Cys)
|
rs376867823
|
0.00001
|
|
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe)
|
rs137853311
|
0.00001
|
|
NM_001110556.2(FLNA):c.1995C>T (p.Asp665=)
|
rs368889011
|
0.00001
|
|
NM_001110556.2(FLNA):c.2001C>T (p.Pro667=)
|
rs782344845
|
0.00001
|
|
NM_001110556.2(FLNA):c.2033G>A (p.Arg678His)
|
rs924631524
|
0.00001
|
|
NM_001110556.2(FLNA):c.2076A>G (p.Pro692=)
|
rs1603362287
|
0.00001
|
|
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser)
|
rs781988346
|
0.00001
|
|
NM_001110556.2(FLNA):c.2106T>C (p.Gly702=)
|
rs2067738118
|
0.00001
|
|
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp)
|
rs782287086
|
0.00001
|
|
NM_001110556.2(FLNA):c.216C>T (p.Ser72=)
|
rs1557180194
|
0.00001
|
|
NM_001110556.2(FLNA):c.2186G>A (p.Gly729Asp)
|
rs782330533
|
0.00001
|
|
NM_001110556.2(FLNA):c.2206G>A (p.Val736Met)
|
rs1409855324
|
0.00001
|
|
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met)
|
rs782439081
|
0.00001
|
|
NM_001110556.2(FLNA):c.2235C>T (p.Ala745=)
|
rs371023320
|
0.00001
|
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
|
NM_001110556.2(FLNA):c.2274C>T (p.Pro758=)
|
rs377513054
|
0.00001
|
|
NM_001110556.2(FLNA):c.2281-10T>G
|
rs782248197
|
0.00001
|
|
NM_001110556.2(FLNA):c.2281-6_2281-2dup
|
rs782393225
|
0.00001
|
|
NM_001110556.2(FLNA):c.2281G>A (p.Val761Met)
|
rs375898586
|
0.00001
|
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
|
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln)
|
rs863223620
|
0.00001
|
|
NM_001110556.2(FLNA):c.2362G>A (p.Glu788Lys)
|
rs911403388
|
0.00001
|
|
NM_001110556.2(FLNA):c.2388C>T (p.Cys796=)
|
rs931584047
|
0.00001
|
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
|
NM_001110556.2(FLNA):c.2413A>G (p.Ser805Gly)
|
rs1557178305
|
0.00001
|
|
NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr)
|
rs782591945
|
0.00001
|
|
NM_001110556.2(FLNA):c.2466C>T (p.Ile822=)
|
rs878854461
|
0.00001
|
|
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn)
|
rs1557178278
|
0.00001
|
|
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=)
|
rs782669943
|
0.00001
|
|
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn)
|
rs782555729
|
0.00001
|
|
NM_001110556.2(FLNA):c.2483G>C (p.Arg828Pro)
|
rs1347740802
|
0.00001
|
|
NM_001110556.2(FLNA):c.2485A>G (p.Asn829Asp)
|
rs1557178269
|
0.00001
|
|
NM_001110556.2(FLNA):c.2492A>G (p.Asn831Ser)
|
rs781846227
|
0.00001
|
|
NM_001110556.2(FLNA):c.2504C>T (p.Thr835Met)
|
rs782315127
|
0.00001
|
|
NM_001110556.2(FLNA):c.2517G>A (p.Thr839=)
|
rs782342191
|
0.00001
|
|
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp)
|
rs782772998
|
0.00001
|
|
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr)
|
rs782402900
|
0.00001
|
|
NM_001110556.2(FLNA):c.2570C>T (p.Thr857Met)
|
rs1488268931
|
0.00001
|
|
NM_001110556.2(FLNA):c.2584A>G (p.Ile862Val)
|
rs1557178202
|
0.00001
|
|
NM_001110556.2(FLNA):c.2587C>A (p.Arg863=)
|
rs781901497
|
0.00001
|
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
|
NM_001110556.2(FLNA):c.2608C>T (p.His870Tyr)
|
rs1057524473
|
0.00001
|
|
NM_001110556.2(FLNA):c.2650C>T (p.Arg884Cys)
|
rs201523624
|
0.00001
|
|
NM_001110556.2(FLNA):c.2657-11G>A
|
rs1452622660
|
0.00001
|
|
NM_001110556.2(FLNA):c.2706T>C (p.Ala902=)
|
rs781842762
|
0.00001
|
|
NM_001110556.2(FLNA):c.2726T>C (p.Val909Ala)
|
rs1557178152
|
0.00001
|
|
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln)
|
rs782334371
|
0.00001
|
|
NM_001110556.2(FLNA):c.2766T>C (p.Asp922=)
|
rs782095611
|
0.00001
|
|
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg)
|
rs1209463656
|
0.00001
|
|
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp)
|
rs190437842
|
0.00001
|
|
NM_001110556.2(FLNA):c.2826+11C>T
|
rs781834399
|
0.00001
|
|
NM_001110556.2(FLNA):c.2826+4G>A
|
rs1037180469
|
0.00001
|
|
NM_001110556.2(FLNA):c.2827-7T>C
|
rs2067713533
|
0.00001
|
|
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu)
|
rs782451202
|
0.00001
|
|
NM_001110556.2(FLNA):c.2838C>T (p.Gly946=)
|
rs782612987
|
0.00001
|
|
NM_001110556.2(FLNA):c.2858G>A (p.Gly953Glu)
|
rs782450052
|
0.00001
|
|
NM_001110556.2(FLNA):c.2894T>C (p.Val965Ala)
|
rs2067712757
|
0.00001
|
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
|
NM_001110556.2(FLNA):c.3006C>A (p.Gly1002=)
|
rs782396211
|
0.00001
|
|
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr)
|
rs1557178033
|
0.00001
|
|
NM_001110556.2(FLNA):c.3087T>C (p.Ser1029=)
|
rs1057523122
|
0.00001
|
|
NM_001110556.2(FLNA):c.3095G>A (p.Arg1032His)
|
rs781782783
|
0.00001
|
|
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys)
|
rs1187268269
|
0.00001
|
|
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=)
|
rs398123615
|
0.00001
|
|
NM_001110556.2(FLNA):c.3225G>A (p.Pro1075=)
|
rs782292169
|
0.00001
|
|
NM_001110556.2(FLNA):c.3282C>T (p.Gly1094=)
|
rs369583365
|
0.00001
|
|
NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr)
|
rs781864297
|
0.00001
|
|
NM_001110556.2(FLNA):c.3286G>A (p.Gly1096Ser)
|
rs782149159
|
0.00001
|
|
NM_001110556.2(FLNA):c.3299T>G (p.Leu1100Arg)
|
rs782307520
|
0.00001
|
|
NM_001110556.2(FLNA):c.3308C>T (p.Thr1103Met)
|
rs781970327
|
0.00001
|
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
|
NM_001110556.2(FLNA):c.3336C>T (p.Leu1112=)
|
rs782418068
|
0.00001
|
|
NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met)
|
rs781842942
|
0.00001
|
|
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val)
|
rs782318545
|
0.00001
|
|
NM_001110556.2(FLNA):c.3414C>A (p.Ile1138=)
|
rs782201239
|
0.00001
|
|
NM_001110556.2(FLNA):c.3416T>G (p.Leu1139Arg)
|
rs782633080
|
0.00001
|
|
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=)
|
rs782219300
|
0.00001
|
|
NM_001110556.2(FLNA):c.3444C>T (p.Ser1148=)
|
rs2067695848
|
0.00001
|
|
NM_001110556.2(FLNA):c.3459C>T (p.His1153=)
|
rs1057523340
|
0.00001
|
|
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met)
|
rs1557177750
|
0.00001
|
|
NM_001110556.2(FLNA):c.3469T>C (p.Cys1157Arg)
|
rs781852888
|
0.00001
|
|
NM_001110556.2(FLNA):c.3477C>T (p.Asp1159=)
|
rs1211930273
|
0.00001
|
|
NM_001110556.2(FLNA):c.353G>A (p.Ser118Asn)
|
rs1406549914
|
0.00001
|
|
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)
|
rs137853312
|
0.00001
|
|
NM_001110556.2(FLNA):c.3573G>A (p.Ala1191=)
|
rs782300292
|
0.00001
|
|
NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg)
|
rs781924230
|
0.00001
|
|
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val)
|
rs201810442
|
0.00001
|
|
NM_001110556.2(FLNA):c.3615C>T (p.Ala1205=)
|
rs1557177719
|
0.00001
|
|
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=)
|
rs1557177714
|
0.00001
|
|
NM_001110556.2(FLNA):c.3636C>T (p.His1212=)
|
rs1557177707
|
0.00001
|
|
NM_001110556.2(FLNA):c.3643G>A (p.Gly1215Ser)
|
rs782482207
|
0.00001
|
|
NM_001110556.2(FLNA):c.3648G>A (p.Thr1216=)
|
rs782800077
|
0.00001
|
|
NM_001110556.2(FLNA):c.3650A>G (p.His1217Arg)
|
rs782148392
|
0.00001
|
|
NM_001110556.2(FLNA):c.3657T>C (p.Ile1219=)
|
rs1250908398
|
0.00001
|
|
NM_001110556.2(FLNA):c.374-10C>T
|
rs782709382
|
0.00001
|
|
NM_001110556.2(FLNA):c.374-15C>G
|
rs2067776708
|
0.00001
|
|
NM_001110556.2(FLNA):c.374-3C>T
|
rs781994403
|
0.00001
|
|
NM_001110556.2(FLNA):c.3768C>T (p.Ser1256=)
|
rs782528841
|
0.00001
|
|
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser)
|
rs781896277
|
0.00001
|
|
NM_001110556.2(FLNA):c.3814C>T (p.Arg1272Cys)
|
rs1420631223
|
0.00001
|
|
NM_001110556.2(FLNA):c.3815G>A (p.Arg1272His)
|
rs2067691676
|
0.00001
|
|
NM_001110556.2(FLNA):c.3837T>C (p.Ser1279=)
|
rs782180714
|
0.00001
|
|
NM_001110556.2(FLNA):c.3886C>T (p.Arg1296Cys)
|
rs781816229
|
0.00001
|
|
NM_001110556.2(FLNA):c.3887G>A (p.Arg1296His)
|
rs863223623
|
0.00001
|
|
NM_001110556.2(FLNA):c.3909C>T (p.Asn1303=)
|
rs1060504018
|
0.00001
|
|
NM_001110556.2(FLNA):c.3920C>T (p.Thr1307Ile)
|
rs1557177604
|
0.00001
|
|
NM_001110556.2(FLNA):c.3921C>T (p.Thr1307=)
|
rs2067690590
|
0.00001
|
|
NM_001110556.2(FLNA):c.3925G>A (p.Val1309Ile)
|
rs782412141
|
0.00001
|
|
NM_001110556.2(FLNA):c.3966G>A (p.Thr1322=)
|
rs1375067988
|
0.00001
|
|
NM_001110556.2(FLNA):c.3979+4C>T
|
rs782681322
|
0.00001
|
|
NM_001110556.2(FLNA):c.3980-15C>A
|
rs781957943
|
0.00001
|
|
NM_001110556.2(FLNA):c.3996C>T (p.Asp1332=)
|
rs782414490
|
0.00001
|
|
NM_001110556.2(FLNA):c.4008C>T (p.Asp1336=)
|
rs782173575
|
0.00001
|
|
NM_001110556.2(FLNA):c.4016C>T (p.Pro1339Leu)
|
rs1557177547
|
0.00001
|
|
NM_001110556.2(FLNA):c.4017C>T (p.Pro1339=)
|
rs781934382
|
0.00001
|
|
NM_001110556.2(FLNA):c.4023C>T (p.Pro1341=)
|
rs1375431086
|
0.00001
|
|
NM_001110556.2(FLNA):c.4032C>G (p.Pro1344=)
|
rs368597778
|
0.00001
|
|
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp)
|
rs373073505
|
0.00001
|
|
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His)
|
rs1557177520
|
0.00001
|
|
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg)
|
rs782774182
|
0.00001
|
|
NM_001110556.2(FLNA):c.4142+14C>T
|
rs1168375401
|
0.00001
|
|
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val)
|
rs781976719
|
0.00001
|
|
NM_001110556.2(FLNA):c.4236C>T (p.Val1412=)
|
rs782589572
|
0.00001
|
|
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu)
|
rs2067686132
|
0.00001
|
|
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile)
|
rs782073521
|
0.00001
|
|
NM_001110556.2(FLNA):c.4294C>A (p.Gln1432Lys)
|
rs192337215
|
0.00001
|
|
NM_001110556.2(FLNA):c.4304-18C>T
|
rs1557177420
|
0.00001
|
|
NM_001110556.2(FLNA):c.4304-20C>T
|
rs782202262
|
0.00001
|
|
NM_001110556.2(FLNA):c.4327C>A (p.His1443Asn)
|
rs863223617
|
0.00001
|
|
NM_001110556.2(FLNA):c.4343C>T (p.Ala1448Val)
|
rs201886752
|
0.00001
|
|
NM_001110556.2(FLNA):c.4390C>T (p.Arg1464Cys)
|
rs1557177400
|
0.00001
|
|
NM_001110556.2(FLNA):c.4395C>T (p.Ala1465=)
|
rs1161097774
|
0.00001
|
|
NM_001110556.2(FLNA):c.4400T>G (p.Leu1467Arg)
|
rs2067683829
|
0.00001
|
|
NM_001110556.2(FLNA):c.4424C>T (p.Thr1475Ile)
|
rs1557177388
|
0.00001
|
|
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser)
|
rs781855364
|
0.00001
|
|
NM_001110556.2(FLNA):c.4440G>A (p.Val1480=)
|
rs1557177384
|
0.00001
|
|
NM_001110556.2(FLNA):c.444C>T (p.Tyr148=)
|
rs935727195
|
0.00001
|
|
NM_001110556.2(FLNA):c.4474+15G>T
|
rs782677631
|
0.00001
|
|
NM_001110556.2(FLNA):c.4474+3G>T
|
rs1286863443
|
0.00001
|
|
NM_001110556.2(FLNA):c.4524C>T (p.Thr1508=)
|
rs782141778
|
0.00001
|
|
NM_001110556.2(FLNA):c.4575T>C (p.Tyr1525=)
|
rs1473950337
|
0.00001
|
|
NM_001110556.2(FLNA):c.4598+7G>A
|
rs782171476
|
0.00001
|
|
NM_001110556.2(FLNA):c.4599-17A>C
|
rs782093944
|
0.00001
|
|
NM_001110556.2(FLNA):c.4618C>T (p.Leu1540=)
|
rs1258781693
|
0.00001
|
|
NM_001110556.2(FLNA):c.4629T>C (p.His1543=)
|
rs782674318
|
0.00001
|
|
NM_001110556.2(FLNA):c.4666A>G (p.Asn1556Asp)
|
rs782605190
|
0.00001
|
|
NM_001110556.2(FLNA):c.4677C>T (p.Gly1559=)
|
rs782564959
|
0.00001
|
|
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met)
|
rs1181500076
|
0.00001
|
|
NM_001110556.2(FLNA):c.4725C>T (p.Ala1575=)
|
rs969907803
|
0.00001
|
|
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)
|
rs797045044
|
0.00001
|
|
NM_001110556.2(FLNA):c.4755G>A (p.Thr1585=)
|
rs371787377
|
0.00001
|
|
NM_001110556.2(FLNA):c.4761C>T (p.Pro1587=)
|
rs1285328823
|
0.00001
|
|
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu)
|
rs372729831
|
0.00001
|
|
NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=)
|
rs1557177102
|
0.00001
|
|
NM_001110556.2(FLNA):c.4825G>A (p.Val1609Met)
|
rs782314291
|
0.00001
|
|
NM_001110556.2(FLNA):c.4896C>T (p.Tyr1632=)
|
rs782235294
|
0.00001
|
|
NM_001110556.2(FLNA):c.4904G>A (p.Arg1635His)
|
rs1569551558
|
0.00001
|
|
NM_001110556.2(FLNA):c.4918G>A (p.Gly1640Arg)
|
rs1057524434
|
0.00001
|
|
NM_001110556.2(FLNA):c.4945+8C>T
|
rs1347132008
|
0.00001
|
|
NM_001110556.2(FLNA):c.4970-17C>A
|
rs377269788
|
0.00001
|
|
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr)
|
rs863223639
|
0.00001
|
|
NM_001110556.2(FLNA):c.5009C>T (p.Thr1670Met)
|
rs1381802174
|
0.00001
|
|
NM_001110556.2(FLNA):c.5033C>T (p.Ala1678Val)
|
rs1382817700
|
0.00001
|
|
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met)
|
rs781783107
|
0.00001
|
|
NM_001110556.2(FLNA):c.5063T>G (p.Val1688Gly)
|
rs1461148946
|
0.00001
|
|
NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn)
|
rs782048198
|
0.00001
|
|
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)
|
rs782351877
|
0.00001
|
|
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser)
|
rs781993685
|
0.00001
|
|
NM_001110556.2(FLNA):c.5127C>A (p.Asp1709Glu)
|
rs1557176627
|
0.00001
|
|
NM_001110556.2(FLNA):c.5146C>G (p.Gln1716Glu)
|
rs1557176613
|
0.00001
|
|
NM_001110556.2(FLNA):c.5156A>G (p.Lys1719Arg)
|
rs782502175
|
0.00001
|
|
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile)
|
rs187497365
|
0.00001
|
|
NM_001110556.2(FLNA):c.5173C>T (p.Arg1725Cys)
|
rs1195468267
|
0.00001
|
|
NM_001110556.2(FLNA):c.5199C>T (p.Asn1733=)
|
rs782086308
|
0.00001
|
|
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu)
|
rs1557176526
|
0.00001
|
|
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro)
|
rs1363194253
|
0.00001
|
|
NM_001110556.2(FLNA):c.5257C>T (p.Arg1753Trp)
|
rs782147650
|
0.00001
|
|
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His)
|
rs1293701269
|
0.00001
|
|
NM_001110556.2(FLNA):c.5289C>T (p.Tyr1763=)
|
rs782594312
|
0.00001
|
|
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=)
|
rs1027131950
|
0.00001
|
|
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser)
|
rs1557176498
|
0.00001
|
|
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=)
|
rs782127738
|
0.00001
|
|
NM_001110556.2(FLNA):c.5331G>A (p.Leu1777=)
|
rs781885051
|
0.00001
|
|
NM_001110556.2(FLNA):c.5417-11C>A
|
rs1391215809
|
0.00001
|
|
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)
|
rs782269425
|
0.00001
|
|
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met)
|
rs782448596
|
0.00001
|
|
NM_001110556.2(FLNA):c.5487C>T (p.Thr1829=)
|
rs782031641
|
0.00001
|
|
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)
|
rs782307604
|
0.00001
|
|
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys)
|
rs782771039
|
0.00001
|
|
NM_001110556.2(FLNA):c.5557+12C>G
|
rs1414920171
|
0.00001
|
|
NM_001110556.2(FLNA):c.5586C>T (p.Tyr1862=)
|
rs782051964
|
0.00001
|
|
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)
|
rs782095418
|
0.00001
|
|
NM_001110556.2(FLNA):c.5679A>G (p.Ala1893=)
|
rs782551375
|
0.00001
|
|
NM_001110556.2(FLNA):c.5686+13T>C
|
rs1057520884
|
0.00001
|
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
0.00001
|
|
NM_001110556.2(FLNA):c.5714C>T (p.Pro1905Leu)
|
rs781794030
|
0.00001
|
|
NM_001110556.2(FLNA):c.5753G>A (p.Gly1918Glu)
|
rs373862172
|
0.00001
|
|
NM_001110556.2(FLNA):c.5760C>T (p.Cys1920=)
|
rs1359141531
|
0.00001
|
|
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu)
|
rs782359458
|
0.00001
|
|
NM_001110556.2(FLNA):c.5826C>T (p.His1942=)
|
rs377667830
|
0.00001
|
|
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn)
|
rs930325486
|
0.00001
|
|
NM_001110556.2(FLNA):c.5875C>T (p.Arg1959Cys)
|
rs10458342
|
0.00001
|
|
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln)
|
rs1569551872
|
0.00001
|
|
NM_001110556.2(FLNA):c.5895C>T (p.Val1965=)
|
rs782692576
|
0.00001
|
|
NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn)
|
rs1304255474
|
0.00001
|
|
NM_001110556.2(FLNA):c.5952G>A (p.Thr1984=)
|
rs782618234
|
0.00001
|
|
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu)
|
rs992772682
|
0.00001
|
|
NM_001110556.2(FLNA):c.5967G>A (p.Pro1989=)
|
rs372351673
|
0.00001
|
|
NM_001110556.2(FLNA):c.6018C>T (p.His2006=)
|
rs1557176187
|
0.00001
|
|
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met)
|
rs200956777
|
0.00001
|
|
NM_001110556.2(FLNA):c.6047C>T (p.Thr2016Met)
|
rs781946802
|
0.00001
|
|
NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu)
|
rs1557176160
|
0.00001
|
|
NM_001110556.2(FLNA):c.6067G>C (p.Val2023Leu)
|
rs781998679
|
0.00001
|
|
NM_001110556.2(FLNA):c.6087C>T (p.His2029=)
|
rs1291004140
|
0.00001
|
|
NM_001110556.2(FLNA):c.6088G>A (p.Val2030Met)
|
rs781920955
|
0.00001
|
|
NM_001110556.2(FLNA):c.60C>T (p.Gly20=)
|
rs1557180245
|
0.00001
|
|
NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly)
|
rs781802209
|
0.00001
|
|
NM_001110556.2(FLNA):c.6145C>T (p.Arg2049Cys)
|
rs782740450
|
0.00001
|
|
NM_001110556.2(FLNA):c.6152G>A (p.Arg2051Gln)
|
rs782483195
|
0.00001
|
|
NM_001110556.2(FLNA):c.6154G>A (p.Val2052Ile)
|
rs1557176115
|
0.00001
|
|
NM_001110556.2(FLNA):c.6186C>T (p.Thr2062=)
|
rs1569551482
|
0.00001
|
|
NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr)
|
rs782693894
|
0.00001
|
|
NM_001110556.2(FLNA):c.622+11G>A
|
rs1488336515
|
0.00001
|
|
NM_001110556.2(FLNA):c.6227-9A>C
|
rs1202642295
|
0.00001
|
|
NM_001110556.2(FLNA):c.6238C>T (p.Leu2080Phe)
|
rs782157246
|
0.00001
|
|
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu)
|
rs968230475
|
0.00001
|
|
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn)
|
rs781962577
|
0.00001
|
|
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=)
|
rs377571943
|
0.00001
|
|
NM_001110556.2(FLNA):c.6335G>A (p.Gly2112Asp)
|
rs2067630528
|
0.00001
|
|
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met)
|
rs1557176038
|
0.00001
|
|
NM_001110556.2(FLNA):c.6379+19C>T
|
rs781978328
|
0.00001
|
|
NM_001110556.2(FLNA):c.6379+20G>A
|
rs369979360
|
0.00001
|
|
NM_001110556.2(FLNA):c.6379+7G>C
|
rs782405240
|
0.00001
|
|
NM_001110556.2(FLNA):c.6385C>T (p.Pro2129Ser)
|
rs1277448008
|
0.00001
|
|
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp)
|
rs782761341
|
0.00001
|
|
NM_001110556.2(FLNA):c.6435C>T (p.Thr2145=)
|
rs782316013
|
0.00001
|
|
NM_001110556.2(FLNA):c.6502+10G>A
|
rs1404710678
|
0.00001
|
|
NM_001110556.2(FLNA):c.6502+17G>T
|
rs1321268094
|
0.00001
|
|
NM_001110556.2(FLNA):c.6503-8C>T
|
rs1288120261
|
0.00001
|
|
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr)
|
rs1222551110
|
0.00001
|
|
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys)
|
rs1405780478
|
0.00001
|
|
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys)
|
rs782621818
|
0.00001
|
|
NM_001110556.2(FLNA):c.6607G>A (p.Val2203Ile)
|
rs782562592
|
0.00001
|
|
NM_001110556.2(FLNA):c.664G>A (p.Val222Ile)
|
rs782425251
|
0.00001
|
|
NM_001110556.2(FLNA):c.6657G>A (p.Gln2219=)
|
rs1210861581
|
0.00001
|
|
NM_001110556.2(FLNA):c.6666T>G (p.Pro2222=)
|
rs1557175937
|
0.00001
|
|
NM_001110556.2(FLNA):c.666T>A (p.Val222=)
|
rs1557179594
|
0.00001
|
|
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg)
|
rs797045581
|
0.00001
|
|
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln)
|
rs781984274
|
0.00001
|
|
NM_001110556.2(FLNA):c.6769+19C>T
|
rs1332763209
|
0.00001
|
|
NM_001110556.2(FLNA):c.6770-16A>G
|
rs1057522722
|
0.00001
|
|
NM_001110556.2(FLNA):c.6770-8T>C
|
rs1307963198
|
0.00001
|
|
NM_001110556.2(FLNA):c.6776T>C (p.Phe2259Ser)
|
rs1276647740
|
0.00001
|
|
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val)
|
rs1004772663
|
0.00001
|
|
NM_001110556.2(FLNA):c.6861C>T (p.Asp2287=)
|
rs782563765
|
0.00001
|
|
NM_001110556.2(FLNA):c.6862C>T (p.Arg2288Cys)
|
rs782566359
|
0.00001
|
|
NM_001110556.2(FLNA):c.6907+8G>A
|
rs1557175865
|
0.00001
|
|
NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys)
|
rs782129661
|
0.00001
|
|
NM_001110556.2(FLNA):c.6951C>T (p.Pro2317=)
|
rs782356784
|
0.00001
|
|
NM_001110556.2(FLNA):c.696G>A (p.Ala232=)
|
rs781907486
|
0.00001
|
|
NM_001110556.2(FLNA):c.6973G>A (p.Val2325Met)
|
rs1557175818
|
0.00001
|
|
NM_001110556.2(FLNA):c.6983C>T (p.Pro2328Leu)
|
rs782310851
|
0.00001
|
|
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=)
|
rs782377203
|
0.00001
|
|
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys)
|
rs782689584
|
0.00001
|
|
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys)
|
rs781878646
|
0.00001
|
|
NM_001110556.2(FLNA):c.7023+19C>G
|
rs1349672878
|
0.00001
|
|
NM_001110556.2(FLNA):c.7033C>T (p.Leu2345=)
|
rs1557175661
|
0.00001
|
|
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr)
|
rs1557175653
|
0.00001
|
|
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe)
|
rs1557175646
|
0.00001
|
|
NM_001110556.2(FLNA):c.7123C>T (p.Leu2375=)
|
rs1557175605
|
0.00001
|
|
NM_001110556.2(FLNA):c.7150G>A (p.Asp2384Asn)
|
rs782754461
|
0.00001
|
|
NM_001110556.2(FLNA):c.7156+11_7156+15del
|
rs1064794726
|
0.00001
|
|
NM_001110556.2(FLNA):c.7156+20C>T
|
rs1259333622
|
0.00001
|
|
NM_001110556.2(FLNA):c.7156+20_7156+37del
|
rs1557175582
|
0.00001
|
|
NM_001110556.2(FLNA):c.7164T>C (p.Tyr2388=)
|
rs1557175472
|
0.00001
|
|
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=)
|
rs782541746
|
0.00001
|
|
NM_001110556.2(FLNA):c.7183C>T (p.Arg2395Trp)
|
rs368038166
|
0.00001
|
|
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu)
|
rs1350949025
|
0.00001
|
|
NM_001110556.2(FLNA):c.720+13G>A
|
rs782041343
|
0.00001
|
|
NM_001110556.2(FLNA):c.720+4C>T
|
rs1557179583
|
0.00001
|
|
NM_001110556.2(FLNA):c.720+5A>T
|
rs1569551860
|
0.00001
|
|
NM_001110556.2(FLNA):c.7206T>C (p.Ile2402=)
|
rs782447267
|
0.00001
|
|
NM_001110556.2(FLNA):c.7233C>T (p.Ile2411=)
|
rs1557175446
|
0.00001
|
|
NM_001110556.2(FLNA):c.7245C>T (p.Pro2415=)
|
rs886044822
|
0.00001
|
|
NM_001110556.2(FLNA):c.7275T>C (p.His2425=)
|
rs781857682
|
0.00001
|
|
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser)
|
rs782189345
|
0.00001
|
|
NM_001110556.2(FLNA):c.7334-4C>T
|
rs782380384
|
0.00001
|
|
NM_001110556.2(FLNA):c.7334-5C>T
|
rs782656039
|
0.00001
|
|
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met)
|
rs781788290
|
0.00001
|
|
NM_001110556.2(FLNA):c.7379G>A (p.Gly2460Asp)
|
rs1557175388
|
0.00001
|
|
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser)
|
rs1557175387
|
0.00001
|
|
NM_001110556.2(FLNA):c.7388C>T (p.Ser2463Leu)
|
rs1460574102
|
0.00001
|
|
NM_001110556.2(FLNA):c.7401C>T (p.Asp2467=)
|
rs886039087
|
0.00001
|
|
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)
|
rs782190081
|
0.00001
|
|
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn)
|
rs909387820
|
0.00001
|
|
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val)
|
rs782563616
|
0.00001
|
|
NM_001110556.2(FLNA):c.7504G>A (p.Gly2502Ser)
|
rs782276654
|
0.00001
|
|
NM_001110556.2(FLNA):c.7520T>C (p.Ile2507Thr)
|
rs863223626
|
0.00001
|
|
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg)
|
rs782442409
|
0.00001
|
|
NM_001110556.2(FLNA):c.7555C>T (p.Pro2519Ser)
|
rs782383611
|
0.00001
|
|
NM_001110556.2(FLNA):c.7569C>T (p.Ser2523=)
|
rs1557175313
|
0.00001
|
|
NM_001110556.2(FLNA):c.7577G>A (p.Ser2526Asn)
|
rs1485769153
|
0.00001
|
|
NM_001110556.2(FLNA):c.7585G>A (p.Glu2529Lys)
|
rs1557175308
|
0.00001
|
|
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)
|
rs886039104
|
0.00001
|
|
NM_001110556.2(FLNA):c.7634C>T (p.Pro2545Leu)
|
rs1377674951
|
0.00001
|
|
NM_001110556.2(FLNA):c.7637A>G (p.Gln2546Arg)
|
rs1057520770
|
0.00001
|
|
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg)
|
rs1557175285
|
0.00001
|
|
NM_001110556.2(FLNA):c.7655C>T (p.Pro2552Leu)
|
rs1334045176
|
0.00001
|
|
NM_001110556.2(FLNA):c.7668C>T (p.Asp2556=)
|
rs782784577
|
0.00001
|
|
NM_001110556.2(FLNA):c.7677G>A (p.Lys2559=)
|
rs2070815
|
0.00001
|
|
NM_001110556.2(FLNA):c.76G>C (p.Ala26Pro)
|
rs886038966
|
0.00001
|
|
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=)
|
rs782709737
|
0.00001
|
|
NM_001110556.2(FLNA):c.7798C>A (p.Pro2600Thr)
|
rs377322094
|
0.00001
|
|
NM_001110556.2(FLNA):c.77C>T (p.Ala26Val)
|
rs782637786
|
0.00001
|
|
NM_001110556.2(FLNA):c.7824C>T (p.His2608=)
|
rs782530835
|
0.00001
|
|
NM_001110556.2(FLNA):c.7835G>A (p.Arg2612Gln)
|
rs200883457
|
0.00001
|
|
NM_001110556.2(FLNA):c.7843A>G (p.Ser2615Gly)
|
rs929704371
|
0.00001
|
|
NM_001110556.2(FLNA):c.786C>G (p.Ser262=)
|
rs1418779359
|
0.00001
|
|
NM_001110556.2(FLNA):c.7887G>A (p.Val2629=)
|
rs376783033
|
0.00001
|
|
NM_001110556.2(FLNA):c.7929C>T (p.Arg2643=)
|
rs782493799
|
0.00001
|
|
NM_001110556.2(FLNA):c.7A>G (p.Ser3Gly)
|
rs1430045418
|
0.00001
|
|
NM_001110556.2(FLNA):c.826C>T (p.Arg276Trp)
|
rs1172505050
|
0.00001
|
|
NM_001110556.2(FLNA):c.869-9C>T
|
rs1272218622
|
0.00001
|
|
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu)
|
rs371600068
|
0.00001
|
|
NM_001110556.2(FLNA):c.963G>A (p.Glu321=)
|
rs1456614483
|
0.00001
|
|
NM_001110556.2(FLNA):c.969G>A (p.Pro323=)
|
rs782178449
|
0.00001
|
|
NM_001110556.2(FLNA):c.972C>T (p.Ala324=)
|
rs781806385
|
0.00001
|
|
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg)
|
rs782724892
|
0.00001
|
|
NM_001110556.2(FLNA):c.987+12T>C
|
rs368561845
|
0.00001
|
|
NM_001110556.2(FLNA):c.999C>T (p.Thr333=)
|
rs1167180795
|
0.00001
|
|
NM_001110556.2(FLNA):c.9C>T (p.Ser3=)
|
rs1057521892
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1009C>T (p.Leu337=)
|
rs781797392
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1026G>A (p.Gly342=)
|
rs782092090
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1036C>T (p.Leu346=)
|
rs2074443904
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1168A>C (p.Met390Leu)
|
rs1556864672
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1188G>A (p.Glu396=)
|
rs782503727
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1236G>A (p.Ser412=)
|
rs782420377
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.125G>A (p.Arg42Gln)
|
rs1397379867
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1265G>A (p.Arg422Gln)
|
rs782441771
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1275G>A (p.Arg425=)
|
rs782511486
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1286G>A (p.Gly429Glu)
|
rs936261583
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1339G>A (p.Val447Ile)
|
rs1556864546
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1341C>T (p.Val447=)
|
rs1361283835
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1374A>G (p.Thr458=)
|
rs781998777
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1428C>T (p.Asp476=)
|
rs781915467
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1485G>T (p.Gln495His)
|
rs370228504
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.158A>G (p.Gln53Arg)
|
rs1158391435
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=)
|
rs376149648
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1629C>T (p.Pro543=)
|
rs2074379481
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1653C>T (p.Leu551=)
|
rs782763345
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1655C>T (p.Pro552Leu)
|
rs1296515292
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=)
|
rs200411197
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.16G>C (p.Gly6Arg)
|
rs1556880366
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1729G>A (p.Gly577Arg)
|
rs782585718
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1745G>A (p.Arg582Gln)
|
rs369172518
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.189G>A (p.Glu63=)
|
rs1365066616
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=)
|
rs781942714
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser)
|
rs782321409
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2046G>A (p.Gly682=)
|
rs782567023
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2231C>T (p.Ser744Leu)
|
rs781930433
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2238T>C (p.Ala746=)
|
rs2074366023
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2316C>T (p.Ile772=)
|
rs1337229168
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2328C>T (p.Ile776=)
|
rs781978108
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.234C>G (p.Gly78=)
|
rs943476072
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2455T>C (p.Leu819=)
|
rs1323515165
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2459+16T>C
|
rs1204868242
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2459+19G>A
|
rs1057522303
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2583-10T>C
|
rs993459100
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2592C>T (p.Tyr864=)
|
rs1556862204
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His)
|
rs370830356
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln)
|
rs376739885
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2694C>T (p.Pro898=)
|
rs2074317558
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2775C>T (p.Pro925=)
|
rs371055459
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.2940G>A (p.Glu980=)
|
rs1052517256
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3015+13T>G
|
rs782124794
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3018C>A (p.Val1006=)
|
rs781902812
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=)
|
rs781862515
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3166A>G (p.Lys1056Glu)
|
rs973062974
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3229C>T (p.Arg1077Cys)
|
rs782569979
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3231C>T (p.Arg1077=)
|
rs781899074
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3243G>A (p.Ala1081=)
|
rs782437696
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3249G>A (p.Val1083=)
|
rs375024113
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3314A>G (p.Asn1105Ser)
|
rs782624844
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3380A>T (p.Asp1127Val)
|
rs144128848
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3390G>A (p.Gly1130=)
|
rs781835382
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=)
|
rs782725826
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn)
|
rs1556859667
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3439C>A (p.Leu1147Ile)
|
rs2074129057
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.345C>G (p.Gly115=)
|
rs1438347773
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3501+9C>T
|
rs1267607124
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3502-8G>A
|
rs781808329
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys)
|
rs1300877733
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3563C>T (p.Pro1188Leu)
|
rs1556859319
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.363C>T (p.Gly121=)
|
rs1178634147
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.380A>G (p.Glu127Gly)
|
rs933120152
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.381G>A (p.Glu127=)
|
rs1556880187
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3843C>T (p.Pro1281=)
|
rs1352308032
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3846C>T (p.Tyr1282=)
|
rs1556859158
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met)
|
rs1347714754
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.396C>T (p.Asp132=)
|
rs1556880172
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.3999C>T (p.His1333=)
|
rs1556859096
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.4033C>T (p.Arg1345Trp)
|
rs1333401052
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu)
|
rs1372592100
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.463G>T (p.Ala155Ser)
|
rs1556880128
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val)
|
rs1321322513
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.566C>T (p.Ser189Leu)
|
rs1474659446
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.597G>A (p.Pro199=)
|
rs1282192716
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.639C>T (p.Ser213=)
|
rs2075418300
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=)
|
rs782083256
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.675C>T (p.Thr225=)
|
rs782524925
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.708-6T>C
|
rs782195025
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.730A>G (p.Thr244Ala)
|
rs1556873118
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.738-7C>T
|
rs1556865215
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.766C>T (p.Leu256=)
|
rs781919609
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.777G>A (p.Ala259=)
|
rs923484172
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg)
|
rs368559547
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.809G>A (p.Arg270Gln)
|
rs782463684
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.885G>C (p.Arg295=)
|
rs782699475
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.903C>G (p.Ala301=)
|
rs782488348
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.987G>T (p.Leu329=)
|
rs1419492759
|
0.00001
|
|
NM_001111125.3(IQSEC2):c.991G>A (p.Asp331Asn)
|
rs1556864973
|
0.00001
|
|
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg)
|
rs1187549360
|
0.00001
|
|
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser)
|
rs772911535
|
0.00001
|
|
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg)
|
rs1226091388
|
0.00001
|
|
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu)
|
rs754421860
|
0.00001
|
|
NM_001159699.2(FHL1):c.159C>T (p.Ala53=)
|
rs1458693544
|
0.00001
|
|
NM_001159699.2(FHL1):c.165C>T (p.Thr55=)
|
rs770499208
|
0.00001
|
|
NM_001159699.2(FHL1):c.168T>C (p.Cys56=)
|
rs1192668098
|
0.00001
|
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
|
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val)
|
rs372301312
|
0.00001
|
|
NM_001159699.2(FHL1):c.195G>A (p.Ala65=)
|
rs1394298803
|
0.00001
|
|
NM_001159699.2(FHL1):c.204+6G>A
|
rs763404867
|
0.00001
|
|
NM_001159699.2(FHL1):c.213C>T (p.His71=)
|
rs917304507
|
0.00001
|
|
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile)
|
rs746834335
|
0.00001
|
|
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)
|
rs774919566
|
0.00001
|
|
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
|
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser)
|
rs1375411779
|
0.00001
|
|
NM_001159699.2(FHL1):c.379+8C>T
|
rs1278172802
|
0.00001
|
|
NM_001159699.2(FHL1):c.380-9C>A
|
rs766762163
|
0.00001
|
|
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr)
|
rs1457366238
|
0.00001
|
|
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg)
|
rs191071512
|
0.00001
|
|
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
|
rs1157004659
|
0.00001
|
|
NM_001159699.2(FHL1):c.499G>A (p.Val167Met)
|
rs1332573754
|
0.00001
|
|
NM_001159699.2(FHL1):c.501G>A (p.Val167=)
|
rs765313795
|
0.00001
|
|
NM_001159699.2(FHL1):c.519G>A (p.Lys173=)
|
rs750331409
|
0.00001
|
|
NM_001159699.2(FHL1):c.531T>C (p.His177=)
|
rs1268549852
|
0.00001
|
|
NM_001159699.2(FHL1):c.537G>C (p.Val179=)
|
rs753535765
|
0.00001
|
|
NM_001159699.2(FHL1):c.549+5G>A
|
rs747714932
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-10C>T
|
rs376922604
|
0.00001
|
|
NM_001159699.2(FHL1):c.550-4C>T
|
rs1188178386
|
0.00001
|
|
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val)
|
rs753677369
|
0.00001
|
|
NM_001159699.2(FHL1):c.579G>C (p.Gln193His)
|
rs2073910764
|
0.00001
|
|
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu)
|
rs1300278653
|
0.00001
|
|
NM_001159699.2(FHL1):c.60G>A (p.Lys20=)
|
rs1297632047
|
0.00001
|
|
NM_001159699.2(FHL1):c.708G>A (p.Lys236=)
|
rs1253823085
|
0.00001
|
|
NM_001159699.2(FHL1):c.711T>C (p.Cys237=)
|
rs757798011
|
0.00001
|
|
NM_001159699.2(FHL1):c.728C>A (p.Pro243His)
|
rs746311721
|
0.00001
|
|
NM_001159699.2(FHL1):c.729C>G (p.Pro243=)
|
rs1060504733
|
0.00001
|
|
NM_001159699.2(FHL1):c.736+18T>C
|
rs774416768
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-14T>C
|
rs769912263
|
0.00001
|
|
NM_001159699.2(FHL1):c.737-2dup
|
rs752156219
|
0.00001
|
|
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser)
|
rs1161827184
|
0.00001
|
|
NM_001159699.2(FHL1):c.789C>T (p.Asp263=)
|
rs1057523997
|
0.00001
|
|
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser)
|
rs869025431
|
0.00001
|
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
|
NM_001159699.2(FHL1):c.861G>T (p.Val287=)
|
rs886043219
|
0.00001
|
|
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe)
|
rs760214177
|
0.00001
|
|
NM_001159699.2(FHL1):c.870C>T (p.Pro290=)
|
rs775356347
|
0.00001
|
|
NM_001159702.3(FHL1):c.714C>T (p.Ser238=)
|
rs780429969
|
0.00001
|
|
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln)
|
rs199818971
|
0.00001
|
|
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter)
|
rs773573633
|
0.00001
|
|
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
|
rs148080493
|
0.00001
|
|
NM_001167.4(XIAP):c.1100-14A>C
|
rs753279953
|
0.00001
|
|
NM_001167.4(XIAP):c.1416A>G (p.Lys472=)
|
rs777650841
|
0.00001
|
|
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys)
|
rs1417605676
|
0.00001
|
|
NM_001167.4(XIAP):c.183G>T (p.Val61=)
|
rs144938731
|
0.00001
|
|
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)
|
rs1481750191
|
0.00001
|
|
NM_001167.4(XIAP):c.308C>T (p.Thr103Met)
|
rs749157868
|
0.00001
|
|
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys)
|
rs773543430
|
0.00001
|
|
NM_001167.4(XIAP):c.549G>A (p.Glu183=)
|
rs1308704581
|
0.00001
|
|
NM_001167.4(XIAP):c.606T>C (p.Cys202=)
|
rs777129433
|
0.00001
|
|
NM_001167.4(XIAP):c.697C>T (p.Arg233Trp)
|
rs906431319
|
0.00001
|
|
NM_001167.4(XIAP):c.716G>A (p.Ser239Asn)
|
rs751640412
|
0.00001
|
|
NM_001167.4(XIAP):c.838A>C (p.Asn280His)
|
rs758057572
|
0.00001
|
|
NM_001167.4(XIAP):c.878-4G>A
|
rs371671137
|
0.00001
|
|
NM_001167.4(XIAP):c.915A>T (p.Gly305=)
|
rs755919911
|
0.00001
|
|
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)
|
rs1280883217
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1032G>C (p.Pro344=)
|
rs1429555639
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1040A>C (p.Asn347Thr)
|
rs755904886
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1092G>A (p.Pro364=)
|
rs761099954
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1142A>G (p.Asn381Ser)
|
rs1318908420
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1164G>T (p.Leu388Phe)
|
rs763059359
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1172A>G (p.Asn391Ser)
|
rs1413596219
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1177C>T (p.Pro393Ser)
|
rs775774922
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1272G>A (p.Gln424=)
|
rs1602636492
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1362C>G (p.Ser454=)
|
rs903487668
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1382T>C (p.Ile461Thr)
|
rs778219829
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1417C>T (p.Leu473Phe)
|
rs751977016
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=)
|
rs137962077
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1477G>A (p.Val493Met)
|
rs773087045
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1485G>A (p.Ser495=)
|
rs184770215
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1506C>T (p.Val502=)
|
rs1301308123
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr)
|
rs778072039
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1569C>T (p.His523=)
|
rs753119035
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1605C>T (p.Ala535=)
|
rs754032170
|
0.00001
|
|
NM_001184880.2(PCDH19):c.162C>T (p.Asp54=)
|
rs1040413042
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1662C>T (p.Leu554=)
|
rs758658173
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1722G>C (p.Glu574Asp)
|
rs767824461
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1740C>G (p.Asn580Lys)
|
rs763798306
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1745G>C (p.Gly582Ala)
|
rs1029866851
|
0.00001
|
|
NM_001184880.2(PCDH19):c.177A>T (p.Ser59=)
|
rs1466130318
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1831G>C (p.Asp611His)
|
rs1361535008
|
0.00001
|
|
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=)
|
rs1282368557
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1881C>T (p.Thr627=)
|
rs1368009329
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1941C>T (p.His647=)
|
rs765223789
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1956C>G (p.Leu652=)
|
rs1928356628
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1962C>G (p.Ala654=)
|
rs759032566
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1971C>G (p.Leu657=)
|
rs770353924
|
0.00001
|
|
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser)
|
rs1928354837
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2014A>G (p.Met672Val)
|
rs749714492
|
0.00001
|
|
NM_001184880.2(PCDH19):c.201G>A (p.Ser67=)
|
rs202078154
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2024T>G (p.Val675Gly)
|
rs780704524
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2203A>G (p.Lys735Glu)
|
rs1382149285
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2223G>A (p.Ser741=)
|
rs907375983
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2252A>G (p.Lys751Arg)
|
rs1159118052
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2288+9G>T
|
rs753792839
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
|
rs376390125
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2381A>C (p.Glu794Ala)
|
rs1226080727
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2391C>G (p.Asp797Glu)
|
rs1304917337
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2401G>A (p.Val801Ile)
|
rs973886559
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2422A>T (p.Thr808Ser)
|
rs111960928
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2477G>A (p.Arg826His)
|
rs1490663128
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2479C>G (p.Arg827Gly)
|
rs773732791
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=)
|
rs774555485
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp)
|
rs1284670769
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2512C>G (p.Gln838Glu)
|
rs199634316
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys)
|
rs1928219474
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2523C>T (p.Arg841=)
|
rs374726171
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2549A>G (p.His850Arg)
|
rs1329841061
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2572C>T (p.Pro858Ser)
|
rs1425103514
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2598C>T (p.Asn866=)
|
rs371444167
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2616+3G>A
|
rs1276499316
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2619T>A (p.Thr873=)
|
rs2098901532
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2643C>G (p.Asn881Lys)
|
rs1285138683
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2647G>A (p.Val883Met)
|
rs746945279
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2657G>A (p.Arg886Gln)
|
rs757949591
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2668A>G (p.Ile890Val)
|
rs778668005
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2672A>G (p.Lys891Arg)
|
rs1602600451
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2676-10T>G
|
rs1469998949
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2676-8C>T
|
rs1174620986
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp)
|
rs752763816
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2786C>T (p.Thr929Ile)
|
rs370150093
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2813G>T (p.Ser938Ile)
|
rs772106217
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2828G>A (p.Gly943Glu)
|
rs371594080
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2855A>G (p.Asn952Ser)
|
rs983140182
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2907G>A (p.Arg969=)
|
rs766776515
|
0.00001
|
|
NM_001184880.2(PCDH19):c.292A>C (p.Lys98Gln)
|
rs372702479
|
0.00001
|
|
NM_001184880.2(PCDH19):c.298A>T (p.Ile100Phe)
|
rs796052838
|
0.00001
|
|
NM_001184880.2(PCDH19):c.2992A>C (p.Thr998Pro)
|
rs1387075416
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=)
|
rs1266028176
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3033C>G (p.Thr1011=)
|
rs1355245225
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=)
|
rs886043091
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3079G>A (p.Ala1027Thr)
|
rs201509171
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3095C>T (p.Thr1032Ile)
|
rs796052793
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3117C>T (p.Val1039=)
|
rs587781106
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3151G>A (p.Val1051Ile)
|
rs1452527533
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln)
|
rs1241637351
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3191C>T (p.Pro1064Leu)
|
rs1285095488
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3213C>G (p.Leu1071=)
|
rs1402645764
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3226C>T (p.Pro1076Ser)
|
rs764781288
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3241G>A (p.Val1081Met)
|
rs774791898
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3265C>A (p.Pro1089Thr)
|
rs769890364
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3306C>T (p.Asn1102=)
|
rs1924606179
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3309T>C (p.Asn1103=)
|
rs753229559
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3341G>A (p.Arg1114His)
|
rs770137596
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3351T>C (p.Asp1117=)
|
rs587781107
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3352A>G (p.Ser1118Gly)
|
rs1057520343
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3379C>T (p.Pro1127Ser)
|
rs1388666203
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3393A>G (p.Glu1131=)
|
rs1448795169
|
0.00001
|
|
NM_001184880.2(PCDH19):c.3398G>A (p.Arg1133His)
|
rs771849535
|
0.00001
|
|
NM_001184880.2(PCDH19):c.405G>A (p.Glu135=)
|
rs1167814430
|
0.00001
|
|
NM_001184880.2(PCDH19):c.456C>T (p.Ser152=)
|
rs760286079
|
0.00001
|
|
NM_001184880.2(PCDH19):c.505A>T (p.Thr169Ser)
|
rs1413443418
|
0.00001
|
|
NM_001184880.2(PCDH19):c.544G>C (p.Gly182Arg)
|
rs777840773
|
0.00001
|
|
NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val)
|
rs764980282
|
0.00001
|
|
NM_001184880.2(PCDH19):c.630G>A (p.Ala210=)
|
rs781763211
|
0.00001
|
|
NM_001184880.2(PCDH19):c.639T>C (p.Gly213=)
|
rs1349440230
|
0.00001
|
|
NM_001184880.2(PCDH19):c.652C>G (p.Arg218Gly)
|
rs1339944196
|
0.00001
|
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
0.00001
|
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
|
NM_001184880.2(PCDH19):c.705C>T (p.Asn235=)
|
rs750043738
|
0.00001
|
|
NM_001184880.2(PCDH19):c.718G>C (p.Glu240Gln)
|
rs796052808
|
0.00001
|
|
NM_001184880.2(PCDH19):c.722C>A (p.Ser241Tyr)
|
rs1004810913
|
0.00001
|
|
NM_001184880.2(PCDH19):c.729C>T (p.Tyr243=)
|
rs1166554052
|
0.00001
|
|
NM_001184880.2(PCDH19):c.741G>T (p.Val247=)
|
rs1057521743
|
0.00001
|
|
NM_001184880.2(PCDH19):c.789C>T (p.Ser263=)
|
rs1338518342
|
0.00001
|
|
NM_001184880.2(PCDH19):c.807C>A (p.Thr269=)
|
rs1467272137
|
0.00001
|
|
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser)
|
rs772171727
|
0.00001
|
|
NM_001184880.2(PCDH19):c.889C>T (p.Leu297=)
|
rs1489598292
|
0.00001
|
|
NM_001184880.2(PCDH19):c.948G>T (p.Val316=)
|
rs371533263
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1022G>A (p.Arg341His)
|
rs1556347347
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1036G>A (p.Val346Ile)
|
rs1556347281
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1077+13C>G
|
rs782189949
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>C
|
rs1409374479
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1088G>A (p.Arg363Gln)
|
rs1556335112
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1116C>T (p.Arg372=)
|
rs1556334992
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1194C>T (p.Ala398=)
|
rs1556334802
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1245G>A (p.Lys415=)
|
rs781947373
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1257A>G (p.Glu419=)
|
rs1556334685
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1322-17A>T
|
rs782417263
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-12C>T
|
rs2047417425
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-5T>C
|
rs1181371428
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1391-7A>G
|
rs1602145711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1409C>T (p.Ser470Leu)
|
rs782206262
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1434G>A (p.Pro478=)
|
rs782705959
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)
|
rs1365914320
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1480G>A (p.Ala494Thr)
|
rs1556301016
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1482T>C (p.Ala494=)
|
rs782665661
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.1518C>T (p.Arg506=)
|
rs782806516
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.248C>T (p.Pro83Leu)
|
rs1556402117
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.252C>T (p.Ser84=)
|
rs1367866917
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.264C>T (p.Asn88=)
|
rs782671712
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr)
|
rs1421919089
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.30+20G>A
|
rs1556464456
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-10G>T
|
rs782313914
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.31-16C>T
|
rs782420279
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.319C>T (p.Arg107Trp)
|
rs1556401755
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.366G>A (p.Glu122=)
|
rs781834665
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.403-19G>A
|
rs782062229
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.408T>C (p.Tyr136=)
|
rs782079969
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)
|
rs782001294
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.425A>G (p.Lys142Arg)
|
rs782145415
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.432G>A (p.Arg144=)
|
rs781937951
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)
|
rs1394345886
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.451C>A (p.Gln151Lys)
|
rs781955551
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.52G>A (p.Val18Ile)
|
rs1556415925
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile)
|
rs1384182085
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys)
|
rs782139620
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.668G>A (p.Arg223His)
|
rs1556365349
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.720T>C (p.Ile240=)
|
rs1556365249
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.726C>T (p.Ile242=)
|
rs1556365224
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.727G>A (p.Asp243Asn)
|
rs782266558
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.759C>A (p.Ile253=)
|
rs782598343
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.76C>T (p.His26Tyr)
|
rs1569491711
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.92A>G (p.Asn31Ser)
|
rs1431530716
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.946-19C>A
|
rs1159447904
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.948C>T (p.Gly316=)
|
rs141158169
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.95G>A (p.Arg32Gln)
|
rs782244025
|
0.00001
|
|
NM_001353921.2(ARHGEF9):c.972G>A (p.Ser324=)
|
rs1556347447
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1050G>T (p.Ser350=)
|
rs1451167601
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1078C>T (p.Pro360Ser)
|
rs771227574
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=)
|
rs199706736
|
0.00001
|
|
NM_001375834.1(WIPF1):c.10C>G (p.Pro4Ala)
|
rs756471924
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=)
|
rs1033892508
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1130-18T>C
|
rs1307224263
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=)
|
rs1205840828
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1229C>A (p.Pro410His)
|
rs142991283
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1233G>T (p.Arg411Ser)
|
rs367686097
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1314A>G (p.Arg438=)
|
rs1463501006
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1373C>T (p.Pro458Leu)
|
rs1481250623
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=)
|
rs757711719
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1412C>T (p.Thr471Met)
|
rs752911584
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1454G>A (p.Arg485Gln)
|
rs776761827
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1468C>T (p.Arg490Ter)
|
rs764306764
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1481G>A (p.Gly494Asp)
|
rs1423414500
|
0.00001
|
|
NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=)
|
rs749710168
|
0.00001
|
|
NM_001375834.1(WIPF1):c.150C>T (p.Val50=)
|
rs766364703
|
0.00001
|
|
NM_001375834.1(WIPF1):c.207C>T (p.Gly69=)
|
rs138616786
|
0.00001
|
|
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=)
|
rs772302114
|
0.00001
|
|
NM_001375834.1(WIPF1):c.244G>A (p.Gly82Arg)
|
rs770105478
|
0.00001
|
|
NM_001375834.1(WIPF1):c.327G>A (p.Pro109=)
|
rs748281934
|
0.00001
|
|
NM_001375834.1(WIPF1):c.38C>T (p.Pro13Leu)
|
rs770545171
|
0.00001
|
|
NM_001375834.1(WIPF1):c.393G>A (p.Pro131=)
|
rs138492962
|
0.00001
|
|
NM_001375834.1(WIPF1):c.409T>C (p.Ser137Pro)
|
rs779896543
|
0.00001
|
|
NM_001375834.1(WIPF1):c.413C>T (p.Ala138Val)
|
rs1684901977
|
0.00001
|
|
NM_001375834.1(WIPF1):c.419C>T (p.Pro140Leu)
|
rs765784451
|
0.00001
|
|
NM_001375834.1(WIPF1):c.430C>A (p.Pro144Thr)
|
rs144275492
|
0.00001
|
|
NM_001375834.1(WIPF1):c.519G>A (p.Arg173=)
|
rs757656746
|
0.00001
|
|
NM_001375834.1(WIPF1):c.543T>C (p.Asp181=)
|
rs1298136683
|
0.00001
|
|
NM_001375834.1(WIPF1):c.579C>T (p.Pro193=)
|
rs1352948196
|
0.00001
|
|
NM_001375834.1(WIPF1):c.590G>A (p.Ser197Asn)
|
rs541606974
|
0.00001
|
|
NM_001375834.1(WIPF1):c.600C>G (p.Asn200Lys)
|
rs374598314
|
0.00001
|
|
NM_001375834.1(WIPF1):c.639C>T (p.Pro213=)
|
rs1408178933
|
0.00001
|
|
NM_001375834.1(WIPF1):c.678C>T (p.Arg226=)
|
rs749598227
|
0.00001
|
|
NM_001375834.1(WIPF1):c.712T>C (p.Ser238Pro)
|
rs1185793589
|
0.00001
|
|
NM_001375834.1(WIPF1):c.757C>T (p.Pro253Ser)
|
rs763819289
|
0.00001
|
|
NM_001375834.1(WIPF1):c.759G>A (p.Pro253=)
|
rs1032410011
|
0.00001
|
|
NM_001375834.1(WIPF1):c.76A>T (p.Asn26Tyr)
|
rs774985492
|
0.00001
|
|
NM_001375834.1(WIPF1):c.860C>T (p.Pro287Leu)
|
rs891642872
|
0.00001
|
|
NM_001375834.1(WIPF1):c.909C>T (p.Ser303=)
|
rs745551139
|
0.00001
|
|
NM_001375834.1(WIPF1):c.912A>G (p.Ser304=)
|
rs747496276
|
0.00001
|
|
NM_001399.5(EDA):c.1013C>T (p.Thr338Met)
|
rs132630321
|
0.00001
|
|
NM_001399.5(EDA):c.1071G>A (p.Arg357=)
|
rs1453813427
|
0.00001
|
|
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp)
|
rs755527924
|
0.00001
|
|
NM_001399.5(EDA):c.1170A>G (p.Ala390=)
|
rs1373879719
|
0.00001
|
|
NM_001399.5(EDA):c.234T>C (p.Leu78=)
|
rs1569272277
|
0.00001
|
|
NM_001399.5(EDA):c.249C>G (p.Thr83=)
|
rs769141538
|
0.00001
|
|
NM_001399.5(EDA):c.346T>C (p.Leu116=)
|
rs1217340038
|
0.00001
|
|
NM_001399.5(EDA):c.403C>T (p.Leu135=)
|
rs765510570
|
0.00001
|
|
NM_001399.5(EDA):c.467G>A (p.Arg156His)
|
rs132630314
|
0.00001
|
|
NM_001399.5(EDA):c.502+10C>T
|
rs771904661
|
0.00001
|
|
NM_001399.5(EDA):c.526+5G>C
|
rs397516664
|
0.00001
|
|
NM_001399.5(EDA):c.558C>T (p.Gly186=)
|
rs1569404832
|
0.00001
|
|
NM_001399.5(EDA):c.57G>A (p.Glu19=)
|
rs758521262
|
0.00001
|
|
NM_001399.5(EDA):c.669T>G (p.Pro223=)
|
rs1248603808
|
0.00001
|
|
NM_001399.5(EDA):c.707-5T>C
|
rs761304256
|
0.00001
|
|
NM_001399.5(EDA):c.777A>C (p.Ala259=)
|
rs777145505
|
0.00001
|
|
NM_001399.5(EDA):c.834T>G (p.Thr278=)
|
rs749576852
|
0.00001
|
|
NM_001399.5(EDA):c.864C>T (p.Pro288=)
|
rs1569406470
|
0.00001
|
|
NM_001399.5(EDA):c.866G>A (p.Arg289His)
|
rs876657641
|
0.00001
|
|
NM_001399.5(EDA):c.879G>A (p.Leu293=)
|
rs746437230
|
0.00001
|
|
NM_001399.5(EDA):c.924+9G>C
|
rs761263650
|
0.00001
|
|
NM_001399.5(EDA):c.925-6A>G
|
rs765272179
|
0.00001
|
|
NM_001399.5(EDA):c.990G>A (p.Leu330=)
|
rs751769463
|
0.00001
|
|
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=)
|
rs1484311033
|
0.00001
|
|
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=)
|
rs1569527113
|
0.00001
|
|
NM_002351.5(SH2D1A):c.144C>T (p.His48=)
|
rs765804146
|
0.00001
|
|
NM_002351.5(SH2D1A):c.201+4T>G
|
rs201574927
|
0.00001
|
|
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=)
|
rs775759946
|
0.00001
|
|
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val)
|
rs757900199
|
0.00001
|
|
NM_002351.5(SH2D1A):c.346+6A>T
|
rs746265444
|
0.00001
|
|
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=)
|
rs1230442586
|
0.00001
|
|
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)
|
rs148554414
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.1960-3C>T
|
rs1207197365
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.20C>G (p.Ala7Gly)
|
rs1365070717
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.407-4T>G
|
rs1040089025
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp)
|
rs1327104134
|
0.00001
|
|
NM_004586.3(RPS6KA3):c.631+9A>C
|
rs747820943
|
0.00001
|
|
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile)
|
rs774518546
|
0.00001
|
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
|
NM_005120.3(MED12):c.1098A>G (p.Leu366=)
|
rs1325162892
|
0.00001
|
|
NM_005120.3(MED12):c.1102-9A>G
|
rs1165300427
|
0.00001
|
|
NM_005120.3(MED12):c.1140C>T (p.His380=)
|
rs753714929
|
0.00001
|
|
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)
|
rs1602295395
|
0.00001
|
|
NM_005120.3(MED12):c.1253G>A (p.Arg418His)
|
rs1431487428
|
0.00001
|
|
NM_005120.3(MED12):c.1257A>C (p.Ala419=)
|
rs754943978
|
0.00001
|
|
NM_005120.3(MED12):c.1269G>A (p.Glu423=)
|
rs758467351
|
0.00001
|
|
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg)
|
rs1170167377
|
0.00001
|
|
NM_005120.3(MED12):c.1377T>A (p.Thr459=)
|
rs764293738
|
0.00001
|
|
NM_005120.3(MED12):c.147T>A (p.Pro49=)
|
rs774875020
|
0.00001
|
|
NM_005120.3(MED12):c.1485+14G>A
|
rs1276319871
|
0.00001
|
|
NM_005120.3(MED12):c.1485+5G>A
|
rs1006276729
|
0.00001
|
|
NM_005120.3(MED12):c.1513T>A (p.Ser505Thr)
|
rs763909049
|
0.00001
|
|
NM_005120.3(MED12):c.1545G>A (p.Lys515=)
|
rs1602295964
|
0.00001
|
|
NM_005120.3(MED12):c.1556G>A (p.Arg519Gln)
|
rs1323878836
|
0.00001
|
|
NM_005120.3(MED12):c.1599G>A (p.Gln533=)
|
rs914308415
|
0.00001
|
|
NM_005120.3(MED12):c.1602G>A (p.Ala534=)
|
rs1057523461
|
0.00001
|
|
NM_005120.3(MED12):c.1662C>T (p.Ala554=)
|
rs1379633991
|
0.00001
|
|
NM_005120.3(MED12):c.1738A>G (p.Met580Val)
|
rs576733100
|
0.00001
|
|
NM_005120.3(MED12):c.1744+14C>T
|
rs1263378137
|
0.00001
|
|
NM_005120.3(MED12):c.1745-19C>T
|
rs1057524262
|
0.00001
|
|
NM_005120.3(MED12):c.1746G>A (p.Thr582=)
|
rs773240125
|
0.00001
|
|
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln)
|
rs747113641
|
0.00001
|
|
NM_005120.3(MED12):c.1773G>A (p.Val591=)
|
rs1476863671
|
0.00001
|
|
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln)
|
rs1275427306
|
0.00001
|
|
NM_005120.3(MED12):c.1854C>T (p.Leu618=)
|
rs775882680
|
0.00001
|
|
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln)
|
rs199582086
|
0.00001
|
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00001
|
|
NM_005120.3(MED12):c.1975-7C>T
|
rs762265257
|
0.00001
|
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
|
NM_005120.3(MED12):c.201C>G (p.Ala67=)
|
rs374555675
|
0.00001
|
|
NM_005120.3(MED12):c.205-20G>A
|
rs780403920
|
0.00001
|
|
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys)
|
rs768834535
|
0.00001
|
|
NM_005120.3(MED12):c.2129T>C (p.Val710Ala)
|
rs1187273369
|
0.00001
|
|
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser)
|
rs772484830
|
0.00001
|
|
NM_005120.3(MED12):c.2169G>A (p.Gly723=)
|
rs1060504497
|
0.00001
|
|
NM_005120.3(MED12):c.2194G>A (p.Val732Met)
|
rs750304793
|
0.00001
|
|
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr)
|
rs756039521
|
0.00001
|
|
NM_005120.3(MED12):c.2232G>A (p.Glu744=)
|
rs1012702212
|
0.00001
|
|
NM_005120.3(MED12):c.2265C>T (p.Val755=)
|
rs750186446
|
0.00001
|
|
NM_005120.3(MED12):c.2280G>A (p.Val760=)
|
rs753948557
|
0.00001
|
|
NM_005120.3(MED12):c.2305C>A (p.His769Asn)
|
rs755014778
|
0.00001
|
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
|
NM_005120.3(MED12):c.2341G>A (p.Val781Ile)
|
rs2092300526
|
0.00001
|
|
NM_005120.3(MED12):c.2351G>A (p.Arg784His)
|
rs777238737
|
0.00001
|
|
NM_005120.3(MED12):c.2422+16C>A
|
rs774516868
|
0.00001
|
|
NM_005120.3(MED12):c.2450G>A (p.Arg817His)
|
rs749801457
|
0.00001
|
|
NM_005120.3(MED12):c.2535G>A (p.Thr845=)
|
rs915335433
|
0.00001
|
|
NM_005120.3(MED12):c.2544C>A (p.Val848=)
|
rs1204827056
|
0.00001
|
|
NM_005120.3(MED12):c.2631C>T (p.Phe877=)
|
rs751190759
|
0.00001
|
|
NM_005120.3(MED12):c.2698C>T (p.Leu900=)
|
rs1470081405
|
0.00001
|
|
NM_005120.3(MED12):c.2784T>G (p.Ala928=)
|
rs1431106485
|
0.00001
|
|
NM_005120.3(MED12):c.2849+11C>G
|
rs755525809
|
0.00001
|
|
NM_005120.3(MED12):c.2850-13C>T
|
rs1199760146
|
0.00001
|
|
NM_005120.3(MED12):c.2859C>T (p.Gly953=)
|
rs930308384
|
0.00001
|
|
NM_005120.3(MED12):c.2862C>T (p.Val954=)
|
rs748251157
|
0.00001
|
|
NM_005120.3(MED12):c.2937C>T (p.Tyr979=)
|
rs758935114
|
0.00001
|
|
NM_005120.3(MED12):c.2982-20C>T
|
rs773211847
|
0.00001
|
|
NM_005120.3(MED12):c.3063C>T (p.Phe1021=)
|
rs797045698
|
0.00001
|
|
NM_005120.3(MED12):c.3069C>T (p.Ile1023=)
|
rs753751305
|
0.00001
|
|
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn)
|
rs1469572055
|
0.00001
|
|
NM_005120.3(MED12):c.3149G>A (p.Arg1050His)
|
rs1228685555
|
0.00001
|
|
NM_005120.3(MED12):c.3192G>A (p.Gly1064=)
|
rs932149153
|
0.00001
|
|
NM_005120.3(MED12):c.3201T>A (p.Asp1067Glu)
|
rs758288118
|
0.00001
|
|
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)
|
rs1266845318
|
0.00001
|
|
NM_005120.3(MED12):c.324A>G (p.Arg108=)
|
rs772440501
|
0.00001
|
|
NM_005120.3(MED12):c.3288T>G (p.Leu1096=)
|
rs1167877198
|
0.00001
|
|
NM_005120.3(MED12):c.33C>T (p.His11=)
|
rs1018272698
|
0.00001
|
|
NM_005120.3(MED12):c.3408C>T (p.Ile1136=)
|
rs756127182
|
0.00001
|
|
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr)
|
rs1317457286
|
0.00001
|
|
NM_005120.3(MED12):c.3609C>T (p.Cys1203=)
|
rs751742488
|
0.00001
|
|
NM_005120.3(MED12):c.3658G>A (p.Val1220Met)
|
rs1236099919
|
0.00001
|
|
NM_005120.3(MED12):c.3692-7A>G
|
rs1014804538
|
0.00001
|
|
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)
|
rs1422779785
|
0.00001
|
|
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp)
|
rs1350628654
|
0.00001
|
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
|
NM_005120.3(MED12):c.3849G>T (p.Leu1283=)
|
rs377409217
|
0.00001
|
|
NM_005120.3(MED12):c.3864A>G (p.Gln1288=)
|
rs370431544
|
0.00001
|
|
NM_005120.3(MED12):c.3957C>A (p.Arg1319=)
|
rs368549870
|
0.00001
|
|
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu)
|
rs757845624
|
0.00001
|
|
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)
|
rs777250096
|
0.00001
|
|
NM_005120.3(MED12):c.4041T>C (p.Ile1347=)
|
rs769884032
|
0.00001
|
|
NM_005120.3(MED12):c.4047+14G>A
|
rs774488297
|
0.00001
|
|
NM_005120.3(MED12):c.4120-11A>C
|
rs773425479
|
0.00001
|
|
NM_005120.3(MED12):c.4120-4C>G
|
rs1253682531
|
0.00001
|
|
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val)
|
rs771349148
|
0.00001
|
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
|
NM_005120.3(MED12):c.4194A>G (p.Ser1398=)
|
rs1319823223
|
0.00001
|
|
NM_005120.3(MED12):c.4197T>A (p.Ser1399=)
|
rs1389363000
|
0.00001
|
|
NM_005120.3(MED12):c.4415+20G>A
|
rs369776103
|
0.00001
|
|
NM_005120.3(MED12):c.4416-8G>T
|
rs770256156
|
0.00001
|
|
NM_005120.3(MED12):c.4470A>G (p.Lys1490=)
|
rs766138859
|
0.00001
|
|
NM_005120.3(MED12):c.4527+11C>G
|
rs2092322513
|
0.00001
|
|
NM_005120.3(MED12):c.4527+19T>C
|
rs2092322558
|
0.00001
|
|
NM_005120.3(MED12):c.4528-20T>G
|
rs1266001762
|
0.00001
|
|
NM_005120.3(MED12):c.4599C>G (p.Leu1533=)
|
rs2092323060
|
0.00001
|
|
NM_005120.3(MED12):c.4617+3G>A
|
rs748647968
|
0.00001
|
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
|
NM_005120.3(MED12):c.4728-10C>T
|
rs1230205688
|
0.00001
|
|
NM_005120.3(MED12):c.4743T>A (p.Thr1581=)
|
rs1296958553
|
0.00001
|
|
NM_005120.3(MED12):c.477C>T (p.Leu159=)
|
rs1304010114
|
0.00001
|
|
NM_005120.3(MED12):c.4827C>T (p.Asn1609=)
|
rs779466860
|
0.00001
|
|
NM_005120.3(MED12):c.4863+19G>A
|
rs1396684605
|
0.00001
|
|
NM_005120.3(MED12):c.4929G>A (p.Lys1643=)
|
rs964113005
|
0.00001
|
|
NM_005120.3(MED12):c.492T>C (p.Cys164=)
|
rs886039163
|
0.00001
|
|
NM_005120.3(MED12):c.4941T>C (p.Asp1647=)
|
rs753148075
|
0.00001
|
|
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)
|
rs376179450
|
0.00001
|
|
NM_005120.3(MED12):c.5013C>T (p.Ile1671=)
|
rs1569482185
|
0.00001
|
|
NM_005120.3(MED12):c.5026-12T>A
|
rs1057520901
|
0.00001
|
|
NM_005120.3(MED12):c.5026-13T>C
|
rs1338117954
|
0.00001
|
|
NM_005120.3(MED12):c.5058G>A (p.Ser1686=)
|
rs1346436513
|
0.00001
|
|
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu)
|
rs1211195670
|
0.00001
|
|
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp)
|
rs763233945
|
0.00001
|
|
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln)
|
rs754537871
|
0.00001
|
|
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)
|
rs1042718707
|
0.00001
|
|
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys)
|
rs2092332758
|
0.00001
|
|
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)
|
rs1246253918
|
0.00001
|
|
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser)
|
rs1444442163
|
0.00001
|
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
|
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu)
|
rs761189421
|
0.00001
|
|
NM_005120.3(MED12):c.5469C>T (p.His1823=)
|
rs1224259784
|
0.00001
|
|
NM_005120.3(MED12):c.554-13C>G
|
rs1033217662
|
0.00001
|
|
NM_005120.3(MED12):c.5592A>G (p.Pro1864=)
|
rs1392245437
|
0.00001
|
|
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val)
|
rs1326683020
|
0.00001
|
|
NM_005120.3(MED12):c.5613A>C (p.Arg1871=)
|
rs767241359
|
0.00001
|
|
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)
|
rs758621985
|
0.00001
|
|
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=)
|
rs747217643
|
0.00001
|
|
NM_005120.3(MED12):c.5749-8C>T
|
rs1385689270
|
0.00001
|
|
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
|
rs1415832392
|
0.00001
|
|
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val)
|
rs1046757174
|
0.00001
|
|
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser)
|
rs781638379
|
0.00001
|
|
NM_005120.3(MED12):c.5862G>A (p.Gln1954=)
|
rs1191896226
|
0.00001
|
|
NM_005120.3(MED12):c.5874C>T (p.Gly1958=)
|
rs370235478
|
0.00001
|
|
NM_005120.3(MED12):c.5916T>C (p.Pro1972=)
|
rs2092336480
|
0.00001
|
|
NM_005120.3(MED12):c.5952T>C (p.Leu1984=)
|
rs2092336597
|
0.00001
|
|
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys)
|
rs1324299187
|
0.00001
|
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
|
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro)
|
rs777453338
|
0.00001
|
|
NM_005120.3(MED12):c.6044+16G>C
|
rs367904425
|
0.00001
|
|
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile)
|
rs755577187
|
0.00001
|
|
NM_005120.3(MED12):c.6145C>A (p.Pro2049Thr)
|
rs756758050
|
0.00001
|
|
NM_005120.3(MED12):c.6165G>A (p.Gln2055=)
|
rs2092345036
|
0.00001
|
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
|
NM_005120.3(MED12):c.6183A>G (p.Gln2061=)
|
rs749041154
|
0.00001
|
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
0.00001
|
|
NM_005120.3(MED12):c.621A>T (p.Pro207=)
|
rs1467258035
|
0.00001
|
|
NM_005120.3(MED12):c.6267+20T>C
|
rs1032542640
|
0.00001
|
|
NM_005120.3(MED12):c.6273G>A (p.Gln2091=)
|
rs1556340048
|
0.00001
|
|
NM_005120.3(MED12):c.6312G>A (p.Gln2104=)
|
rs1416010935
|
0.00001
|
|
NM_005120.3(MED12):c.6315A>G (p.Gln2105=)
|
rs1343388487
|
0.00001
|
|
NM_005120.3(MED12):c.6327G>A (p.Gln2109=)
|
rs1333460909
|
0.00001
|
|
NM_005120.3(MED12):c.6391C>G (p.Pro2131Ala)
|
rs748914486
|
0.00001
|
|
NM_005120.3(MED12):c.6399C>G (p.Ser2133=)
|
rs1321273556
|
0.00001
|
|
NM_005120.3(MED12):c.6416G>A (p.Arg2139His)
|
rs1262235402
|
0.00001
|
|
NM_005120.3(MED12):c.671A>G (p.His224Arg)
|
rs1459490134
|
0.00001
|
|
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)
|
rs1278481602
|
0.00001
|
|
NM_005120.3(MED12):c.76C>G (p.Pro26Ala)
|
rs776154055
|
0.00001
|
|
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)
|
rs1219519252
|
0.00001
|
|
NM_005120.3(MED12):c.872C>A (p.Ala291Glu)
|
rs754533515
|
0.00001
|
|
NM_005120.3(MED12):c.877C>T (p.Leu293=)
|
rs764716429
|
0.00001
|
|
NM_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
|
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala)
|
rs781937365
|
0.00001
|
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
|
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
|
rs782558280
|
0.00001
|
|
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
|
rs782774910
|
0.00001
|
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
|
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
|
rs375223452
|
0.00001
|
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
|
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr)
|
rs782235304
|
0.00001
|
|
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
|
rs1043389387
|
0.00001
|
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
|
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
|
rs782473277
|
0.00001
|
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
|
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
|
rs1557113936
|
0.00001
|
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
|
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
|
rs1557113656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
|
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=)
|
rs782322654
|
0.00001
|
|
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
|
rs371594842
|
0.00001
|
|
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
|
rs1004412459
|
0.00001
|
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
|
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
|
rs782122807
|
0.00001
|
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
|
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr)
|
rs1557112927
|
0.00001
|
|
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
|
rs372010656
|
0.00001
|
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
|
NM_005334.3(HCFC1):c.503+6G>A
|
rs1048267564
|
0.00001
|
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
|
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly)
|
rs1360396448
|
0.00001
|
|
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
|
rs1557112412
|
0.00001
|
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
|
NM_005391.5(PDK3):c.106+18G>A
|
rs1044602433
|
0.00001
|
|
NM_005391.5(PDK3):c.1083T>C (p.Leu361=)
|
rs746261967
|
0.00001
|
|
NM_005391.5(PDK3):c.1125C>T (p.Ser375=)
|
rs772546760
|
0.00001
|
|
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met)
|
rs1442646183
|
0.00001
|
|
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys)
|
rs762702094
|
0.00001
|
|
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln)
|
rs757407648
|
0.00001
|
|
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser)
|
rs1569221445
|
0.00001
|
|
NM_005391.5(PDK3):c.198T>C (p.Leu66=)
|
rs780465553
|
0.00001
|
|
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu)
|
rs373610926
|
0.00001
|
|
NM_005391.5(PDK3):c.320+6T>C
|
rs748960946
|
0.00001
|
|
NM_005391.5(PDK3):c.321-8T>A
|
rs773363870
|
0.00001
|
|
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr)
|
rs1569223291
|
0.00001
|
|
NM_005391.5(PDK3):c.427A>G (p.Ile143Val)
|
rs1057438680
|
0.00001
|
|
NM_005391.5(PDK3):c.474C>T (p.Arg158=)
|
rs756879455
|
0.00001
|
|
NM_005391.5(PDK3):c.506-7C>T
|
rs1195638386
|
0.00001
|
|
NM_005391.5(PDK3):c.51G>C (p.Glu17Asp)
|
rs371137355
|
0.00001
|
|
NM_005391.5(PDK3):c.523G>A (p.Asp175Asn)
|
rs149603823
|
0.00001
|
|
NM_005391.5(PDK3):c.577G>A (p.Val193Met)
|
rs764909872
|
0.00001
|
|
NM_005391.5(PDK3):c.595+3A>G
|
rs1227104182
|
0.00001
|
|
NM_005391.5(PDK3):c.596-4G>A
|
rs1376497125
|
0.00001
|
|
NM_005391.5(PDK3):c.609A>T (p.Thr203=)
|
rs1328563499
|
0.00001
|
|
NM_005391.5(PDK3):c.671A>G (p.Asn224Ser)
|
rs200598034
|
0.00001
|
|
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg)
|
rs1051776582
|
0.00001
|
|
NM_005391.5(PDK3):c.798C>A (p.Gly266=)
|
rs1250656724
|
0.00001
|
|
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu)
|
rs1569227273
|
0.00001
|
|
NM_005391.5(PDK3):c.883C>A (p.Arg295=)
|
rs868382375
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.106C>T (p.Pro36Ser)
|
rs202105468
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.160G>T (p.Val54Leu)
|
rs767128351
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.222T>G (p.Ala74=)
|
rs771044157
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.226G>A (p.Val76Ile)
|
rs966044221
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.324T>C (p.Ser108=)
|
rs772002758
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.372T>G (p.Val124=)
|
rs768335960
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.38-13G>A
|
rs374449836
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.454C>T (p.Arg152Cys)
|
rs745734335
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.496A>T (p.Ser166Cys)
|
rs760027081
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.530A>G (p.Asn177Ser)
|
rs377762605
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.534+14T>A
|
rs372642412
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.534+8C>T
|
rs753957171
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.589-12T>C
|
rs1382713000
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.589-3A>G
|
rs370220088
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.596G>A (p.Arg199His)
|
rs751433380
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.615G>C (p.Lys205Asn)
|
rs1242256343
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.673C>T (p.Arg225Cys)
|
rs1158279990
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.692A>T (p.Glu231Val)
|
rs776952090
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.859-9A>G
|
rs1226152622
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.888A>G (p.Ala296=)
|
rs764184906
|
0.00001
|
|
NM_005765.3(ATP6AP2):c.948C>T (p.Ala316=)
|
rs968409596
|
0.00001
|
|
NM_006950.3(SYN1):c.1076C>A (p.Thr359Lys)
|
rs765183335
|
0.00001
|
|
NM_006950.3(SYN1):c.1159-7C>T
|
rs767722750
|
0.00001
|
|
NM_006950.3(SYN1):c.1183A>G (p.Ile395Val)
|
rs185229386
|
0.00001
|
|
NM_006950.3(SYN1):c.1198G>A (p.Asp400Asn)
|
rs772668988
|
0.00001
|
|
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp)
|
rs780269723
|
0.00001
|
|
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln)
|
rs941190653
|
0.00001
|
|
NM_006950.3(SYN1):c.1310C>T (p.Pro437Leu)
|
rs895517774
|
0.00001
|
|
NM_006950.3(SYN1):c.1363C>A (p.Pro455Thr)
|
rs1371497364
|
0.00001
|
|
NM_006950.3(SYN1):c.1394-7C>T
|
rs1411087897
|
0.00001
|
|
NM_006950.3(SYN1):c.1425G>A (p.Gln475=)
|
rs1372197618
|
0.00001
|
|
NM_006950.3(SYN1):c.1455G>A (p.Pro485=)
|
rs1302222032
|
0.00001
|
|
NM_006950.3(SYN1):c.1519C>A (p.Arg507Ser)
|
rs2057770942
|
0.00001
|
|
NM_006950.3(SYN1):c.1578C>G (p.Thr526=)
|
rs367796785
|
0.00001
|
|
NM_006950.3(SYN1):c.1657T>C (p.Ser553Pro)
|
rs1165799072
|
0.00001
|
|
NM_006950.3(SYN1):c.1713C>T (p.Gly571=)
|
rs1243624256
|
0.00001
|
|
NM_006950.3(SYN1):c.1737G>T (p.Gly579=)
|
rs1290669980
|
0.00001
|
|
NM_006950.3(SYN1):c.1818G>A (p.Gln606=)
|
rs967215240
|
0.00001
|
|
NM_006950.3(SYN1):c.1820C>T (p.Ala607Val)
|
rs1339706473
|
0.00001
|
|
NM_006950.3(SYN1):c.184T>G (p.Ser62Ala)
|
rs1294224206
|
0.00001
|
|
NM_006950.3(SYN1):c.1943C>T (p.Ala648Val)
|
rs796053397
|
0.00001
|
|
NM_006950.3(SYN1):c.1967C>T (p.Pro656Leu)
|
rs1391622247
|
0.00001
|
|
NM_006950.3(SYN1):c.213G>A (p.Ser71=)
|
rs774873821
|
0.00001
|
|
NM_006950.3(SYN1):c.218G>C (p.Gly73Ala)
|
rs1183767661
|
0.00001
|
|
NM_006950.3(SYN1):c.316G>T (p.Ala106Ser)
|
rs794726957
|
0.00001
|
|
NM_006950.3(SYN1):c.338C>T (p.Ser113Phe)
|
rs1488258803
|
0.00001
|
|
NM_006950.3(SYN1):c.438C>T (p.Ala146=)
|
rs1445481586
|
0.00001
|
|
NM_006950.3(SYN1):c.513G>A (p.Gly171=)
|
rs758981794
|
0.00001
|
|
NM_006950.3(SYN1):c.557G>A (p.Arg186His)
|
rs1171134481
|
0.00001
|
|
NM_006950.3(SYN1):c.586G>A (p.Gly196Arg)
|
rs1207640513
|
0.00001
|
|
NM_006950.3(SYN1):c.722C>T (p.Thr241Ile)
|
rs796053399
|
0.00001
|
|
NM_006950.3(SYN1):c.738A>G (p.Leu246=)
|
rs184905398
|
0.00001
|
|
NM_006950.3(SYN1):c.816C>T (p.His272=)
|
rs763902035
|
0.00001
|
|
NM_006950.3(SYN1):c.84G>T (p.Pro28=)
|
rs1197131143
|
0.00001
|
|
NM_006950.3(SYN1):c.883G>A (p.Val295Met)
|
rs1085307749
|
0.00001
|
|
NM_006950.3(SYN1):c.959G>C (p.Gly320Ala)
|
rs1356850744
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.1013C>T (p.Pro338Leu)
|
rs753807510
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.1025G>A (p.Ser342Asn)
|
rs1242322529
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.1045C>T (p.Pro349Ser)
|
rs755700206
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.1054C>A (p.Pro352Thr)
|
rs745341099
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.136C>T (p.Leu46=)
|
rs768836456
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.20G>C (p.Arg7Thr)
|
rs1488428088
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.329-2dup
|
rs763845850
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.357C>A (p.Gly119=)
|
rs751652102
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.362G>A (p.Arg121Gln)
|
rs1159950184
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.414G>T (p.Leu138=)
|
rs1240954820
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.429A>G (p.Thr143=)
|
rs377127210
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.487+17G>A
|
rs572453121
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.489G>A (p.Glu163=)
|
rs1339214564
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.519G>A (p.Gly173=)
|
rs766780497
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.549C>T (p.Tyr183=)
|
rs773907113
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.561C>T (p.Phe187=)
|
rs1328392655
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.579C>T (p.Leu193=)
|
rs748827100
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.666T>A (p.Thr222=)
|
rs1199031410
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.777C>T (p.Asp259=)
|
rs751918374
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.778A>G (p.Ile260Val)
|
rs1927640133
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.789A>G (p.Ser263=)
|
rs763972982
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.808G>A (p.Val270Ile)
|
rs773050995
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.85G>A (p.Val29Ile)
|
rs773173211
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.881+8G>C
|
rs1295858000
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.888G>A (p.Leu296=)
|
rs944227274
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.936C>T (p.Pro312=)
|
rs371820381
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.954T>C (p.Ser318=)
|
rs1458539537
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.979-18A>G
|
rs202246689
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.979-6T>C
|
rs374438182
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.981C>T (p.Ala327=)
|
rs1429612573
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.989A>G (p.Glu330Gly)
|
rs1370221742
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.98G>A (p.Arg33Gln)
|
rs767597857
|
0.00001
|
|
NM_016032.4(ZDHHC9):c.9G>A (p.Val3=)
|
rs752507178
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=)
|
rs759682384
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp)
|
rs758926583
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=)
|
rs34713392
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=)
|
rs768672121
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp)
|
rs774397708
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val)
|
rs781509316
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=)
|
rs1558110685
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=)
|
rs760666458
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg)
|
rs748342283
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala)
|
rs770692934
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=)
|
rs762552451
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg)
|
rs1439653012
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe)
|
rs758475213
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg)
|
rs375674908
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=)
|
rs1421095735
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln)
|
rs1401066315
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met)
|
rs745991382
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val)
|
rs1478635543
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile)
|
rs921843370
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln)
|
rs1216262296
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=)
|
rs771842799
|
0.00001
|
|
NM_022836.4(DCLRE1B):c.99C>T (p.His33=)
|
rs747335906
|
0.00001
|
|
NM_031206.7(LAS1L):c.1392G>A (p.Arg464=)
|
rs1238870516
|
0.00001
|
|
NM_031206.7(LAS1L):c.1871G>A (p.Arg624Lys)
|
rs370120927
|
0.00001
|
|
NM_031206.7(LAS1L):c.231G>A (p.Arg77=)
|
rs901839092
|
0.00001
|
|
NM_031206.7(LAS1L):c.381A>G (p.Ser127=)
|
rs992864125
|
0.00001
|
|
NM_031206.7(LAS1L):c.674A>G (p.Gln225Arg)
|
rs758854025
|
0.00001
|
|
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr)
|
rs1367442721
|
0.00001
|
|
NM_031206.7(LAS1L):c.837G>A (p.Glu279=)
|
rs775979610
|
0.00001
|
|
NM_031206.7(LAS1L):c.948C>T (p.Cys316=)
|
rs1410871672
|
0.00001
|
|
NM_080632.3(UPF3B):c.1035T>C (p.Tyr345=)
|
rs756540483
|
0.00001
|
|
NM_080632.3(UPF3B):c.1087A>G (p.Arg363Gly)
|
rs1402767794
|
0.00001
|
|
NM_080632.3(UPF3B):c.1189A>G (p.Lys397Glu)
|
rs898086981
|
0.00001
|
|
NM_080632.3(UPF3B):c.1302+6G>A
|
rs752421745
|
0.00001
|
|
NM_080632.3(UPF3B):c.265T>C (p.Leu89=)
|
rs761622396
|
0.00001
|
|
NM_080632.3(UPF3B):c.33G>A (p.Glu11=)
|
rs772315243
|
0.00001
|
|
NM_080632.3(UPF3B):c.52A>C (p.Thr18Pro)
|
rs748622995
|
0.00001
|
|
NM_080632.3(UPF3B):c.655A>C (p.Arg219=)
|
rs761343515
|
0.00001
|
|
NM_080632.3(UPF3B):c.75C>T (p.Ser25=)
|
rs780353084
|
0.00001
|
|
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)
|
rs376175156
|
0.00001
|
|
NM_139058.3(ARX):c.1027C>T (p.Leu343=)
|
rs370974597
|
0.00001
|
|
NM_139058.3(ARX):c.1073+19C>T
|
rs2048708046
|
0.00001
|
|
NM_139058.3(ARX):c.1073+9G>C
|
rs779717915
|
0.00001
|
|
NM_139058.3(ARX):c.1182C>T (p.His394=)
|
rs950461742
|
0.00001
|
|
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala)
|
rs776523818
|
0.00001
|
|
NM_139058.3(ARX):c.1194G>T (p.Leu398=)
|
rs1211813471
|
0.00001
|
|
NM_139058.3(ARX):c.1233C>T (p.Ser411=)
|
rs1275814443
|
0.00001
|
|
NM_139058.3(ARX):c.124C>A (p.Arg42=)
|
rs866153168
|
0.00001
|
|
NM_139058.3(ARX):c.1257C>T (p.Phe419=)
|
rs1248729100
|
0.00001
|
|
NM_139058.3(ARX):c.1284C>T (p.Ser428=)
|
rs1202135194
|
0.00001
|
|
NM_139058.3(ARX):c.137C>A (p.Ala46Asp)
|
rs753049882
|
0.00001
|
|
NM_139058.3(ARX):c.1404G>T (p.Ala468=)
|
rs794727657
|
0.00001
|
|
NM_139058.3(ARX):c.1448+9C>A
|
rs759009252
|
0.00001
|
|
NM_139058.3(ARX):c.1521C>A (p.Ala507=)
|
rs777179729
|
0.00001
|
|
NM_139058.3(ARX):c.1542G>A (p.Ser514=)
|
rs1240255602
|
0.00001
|
|
NM_139058.3(ARX):c.1572C>T (p.Ala524=)
|
rs1601945631
|
0.00001
|
|
NM_139058.3(ARX):c.1605G>C (p.Leu535=)
|
rs1480681695
|
0.00001
|
|
NM_139058.3(ARX):c.179C>G (p.Pro60Arg)
|
rs1335616654
|
0.00001
|
|
NM_139058.3(ARX):c.186G>C (p.Lys62Asn)
|
rs2048723387
|
0.00001
|
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
|
NM_139058.3(ARX):c.241C>T (p.Leu81=)
|
rs1601948822
|
0.00001
|
|
NM_139058.3(ARX):c.318G>C (p.Ala106=)
|
rs997762920
|
0.00001
|
|
NM_139058.3(ARX):c.330G>C (p.Ala110=)
|
rs1416343691
|
0.00001
|
|
NM_139058.3(ARX):c.351C>A (p.Ala117=)
|
rs1313243538
|
0.00001
|
|
NM_139058.3(ARX):c.372G>A (p.Glu124=)
|
rs1006764242
|
0.00001
|
|
NM_139058.3(ARX):c.430G>T (p.Ala144Ser)
|
rs1253162910
|
0.00001
|
|
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup)
|
rs797045302
|
0.00001
|
|
NM_139058.3(ARX):c.543C>T (p.Pro181=)
|
rs587780854
|
0.00001
|
|
NM_139058.3(ARX):c.586G>C (p.Gly196Arg)
|
rs1287749285
|
0.00001
|
|
NM_139058.3(ARX):c.592G>A (p.Val198Ile)
|
rs966816905
|
0.00001
|
|
NM_139058.3(ARX):c.610C>A (p.Arg204Ser)
|
rs777162737
|
0.00001
|
|
NM_139058.3(ARX):c.611G>A (p.Arg204His)
|
rs755745002
|
0.00001
|
|
NM_139058.3(ARX):c.639C>T (p.Ser213=)
|
rs2048710797
|
0.00001
|
|
NM_139058.3(ARX):c.644C>T (p.Pro215Leu)
|
rs964935114
|
0.00001
|
|
NM_139058.3(ARX):c.657T>C (p.Gly219=)
|
rs755317735
|
0.00001
|
|
NM_139058.3(ARX):c.678C>T (p.Asp226=)
|
rs764730866
|
0.00001
|
|
NM_139058.3(ARX):c.694G>A (p.Glu232Lys)
|
rs1026478061
|
0.00001
|
|
NM_139058.3(ARX):c.738C>T (p.Asp246=)
|
rs750465338
|
0.00001
|
|
NM_139058.3(ARX):c.770G>C (p.Arg257Pro)
|
rs1239494313
|
0.00001
|
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
|
NM_139058.3(ARX):c.825C>T (p.Ala275=)
|
rs922800521
|
0.00001
|
|
NM_139058.3(ARX):c.837C>G (p.Ala279=)
|
rs1190644757
|
0.00001
|
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NM_139058.3(ARX):c.840T>C (p.Ala280=)
|
rs936582415
|
0.00001
|
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NM_139058.3(ARX):c.856G>A (p.Gly286Ser)
|
rs28935479
|
0.00001
|
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NM_139058.3(ARX):c.873C>G (p.Pro291=)
|
rs1359275622
|
0.00001
|
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NM_139058.3(ARX):c.8A>G (p.Asn3Ser)
|
rs771031915
|
0.00001
|
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NC_000002.11:g.(?_175427255)_(175450321_?)dup
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NC_000002.11:g.(?_175427275)_(175629122_?)dup
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NC_000016.10:g.67660263_67660288del
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NC_000016.10:g.67660263_67660288dup
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rs1339425052
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NC_000016.10:g.67660277C>G
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rs776666988
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NC_000016.10:g.67660284T>C
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rs2142976427
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NC_000016.10:g.67660292_67660309del
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rs1185708088
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NC_000016.10:g.67660300del
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rs2142976499
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NC_000016.10:g.67660322_67660356del
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rs2142976594
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NC_000016.10:g.67660324AGG[2]
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rs1198905942
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NC_000016.10:g.67660332_67660346dup
|
rs2142976632
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NC_000016.10:g.67660358G>A
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rs1347436636
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NC_000016.10:g.67660400C>G
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rs2052987449
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NC_000016.10:g.67660407C>T
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rs745972649
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NC_000016.10:g.67660407_67660419dup
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rs757084527
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NC_000016.10:g.67660478T>C
|
rs1308323945
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NC_000016.9:g.(?_65821800)_(72146396_?)del
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NC_000023.10:g.(?_117629935)_(119761021_?)del
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NC_000023.10:g.(?_118708675)_(119761021_?)dup
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NC_000023.10:g.(?_118968821)_(118986911_?)dup
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NC_000023.10:g.(?_122318388)_(123505241_?)del
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NC_000023.10:g.(?_123019513)_(123020409_?)dup
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NC_000023.10:g.(?_123019513)_(123041031_?)dup
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NC_000023.10:g.(?_123480147)_(123480649_?)del
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NC_000023.10:g.(?_123480147)_(123505241_?)dup
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NC_000023.10:g.(?_123480493)_(123505241_?)del
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NC_000023.10:g.(?_123494030)_(123499653_?)del
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NC_000023.10:g.(?_123499591)_(123499694_?)del
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NC_000023.10:g.(?_128674397)_(128975941_?)dup
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NC_000023.10:g.(?_128674417)_(129299630_?)del
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NC_000023.10:g.(?_133511648)_(133559360_?)del
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NC_000023.10:g.(?_135067662)_(136652229_?)del
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NC_000023.10:g.(?_135288556)_(135293528_?)del
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NC_000023.10:g.(?_135288556)_(135293528_?)dup
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NC_000023.10:g.(?_135288592)_(135292184_?)dup
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NC_000023.10:g.(?_135289169)_(135292189_?)dup
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NC_000023.10:g.(?_135292010)_(135292184_?)del
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NC_000023.10:g.(?_135730388)_(135737600_?)del
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NC_000023.10:g.(?_135730408)_(135741574_?)dup
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NC_000023.10:g.(?_135738495)_(135741594_?)del
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NC_000023.10:g.(?_149613783)_(149840068_?)dup
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NC_000023.10:g.(?_149613783)_(150573536_?)del
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NC_000023.10:g.(?_149761067)_(149761149_?)del
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NC_000023.10:g.(?_149761067)_(149840078_?)del
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NC_000023.10:g.(?_149761067)_(150573540_?)dup
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NC_000023.10:g.(?_149761077)_(149787632_?)dup
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NC_000023.10:g.(?_149761093)_(149767213_?)del
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NC_000023.10:g.(?_149783042)_(149787632_?)del
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NC_000023.10:g.(?_149783052)_(149840078_?)dup
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NC_000023.10:g.(?_149807406)_(149814354_?)dup
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NC_000023.10:g.(?_149818176)_(149818384_?)del
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NC_000023.10:g.(?_149826274)_(149826520_?)del
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NC_000023.10:g.(?_149826274)_(149840088_?)del
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NC_000023.10:g.(?_149826294)_(149826500_?)del
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NC_000023.10:g.(?_149831886)_(149840088_?)del
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NC_000023.10:g.(?_149831896)_(149832092_?)del
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NC_000023.10:g.(?_149839891)_(149840078_?)del
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NC_000023.10:g.(?_152014869)_(153363122_?)dup
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NC_000023.10:g.(?_152014869)_(155171615_?)del
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NC_000023.10:g.(?_152954020)_(154096327_?)del
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NC_000023.10:g.(?_152959340)_(153009209_?)del
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NC_000023.10:g.(?_152986307)_(153593345_?)dup
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NC_000023.10:g.(?_152990712)_(153009199_?)dup
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NC_000023.10:g.(?_152990712)_(153650075_?)del
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NC_000023.10:g.(?_152990712)_(153650075_?)dup
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NC_000023.10:g.(?_152990722)_(153009189_?)del
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NC_000023.10:g.(?_152991573)_(152995898_?)del
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NC_000023.10:g.(?_152994617)_(153006193_?)del
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NC_000023.10:g.(?_152996855)_(153006103_?)del
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NC_000023.10:g.(?_152999896)_(153005554_?)del
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NC_000023.10:g.(?_153001546)_(153002725_?)del
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NC_000023.10:g.(?_153001546)_(153009189_?)del
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NC_000023.10:g.(?_153001546)_(154563736_?)dup
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NC_000023.10:g.(?_153001789)_(153009189_?)del
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NC_000023.10:g.(?_153002601)_(153002715_?)del
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NC_000023.10:g.(?_153002694)_153020558del
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NC_000023.10:g.(?_153005725)_(153006804_?)del
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NC_000023.10:g.(?_153008421)_(153009189_?)del
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NC_000023.10:g.(?_153008421)_(153009209_?)del
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NC_000023.10:g.(?_153008655)_(153009189_?)del
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NC_000023.10:g.(?_153008701)_(153011800_?)del
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NC_000023.10:g.(?_153128108)_(153609567_?)dup
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NC_000023.10:g.(?_153128118)_(153664237_?)dup
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NC_000023.10:g.(?_153195397)_(153583460_?)dup
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NC_000023.10:g.(?_153287264)_(153363188_?)dup
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NC_000023.10:g.(?_153357622)_(153664237_?)dup
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NC_000023.10:g.(?_153577197)_(153579429_?)dup
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NC_000023.10:g.(?_153577197)_(153599633_?)dup
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NC_000023.10:g.(?_153577197)_(153609577_?)dup
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NC_000023.10:g.(?_153577207)_(153599623_?)dup
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NC_000023.10:g.(?_153577207)_(153609567_?)dup
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NC_000023.10:g.(?_153577207)_(153642537_?)dup
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NC_000023.10:g.(?_153577207)_(153650075_?)dup
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NC_000023.10:g.(?_153577211)_(153640295_?)dup
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NC_000023.10:g.(?_153577217)_(153609557_?)dup
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NC_000023.10:g.(?_153579929)_(153649363_?)dup
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NC_000023.10:g.(?_153585782)_(153775961_?)dup
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NC_000023.10:g.(?_153586547)_(153609557_?)dup
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NC_000023.10:g.(?_153587342)_(153609567_?)dup
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NC_000023.10:g.(?_153592874)_(153593874_?)del
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NC_000023.10:g.(?_153595748)_(153596947_?)del
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NC_000023.10:g.(?_153599231)_(153609567_?)del
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NC_000023.10:g.(?_153607393)_(153608624_?)del
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NC_000023.10:g.(?_153607825)_(153609577_?)del
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NC_000023.10:g.(?_153607835)_(153609567_?)del
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NC_000023.10:g.(?_153607835)_(153609567_?)dup
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NC_000023.10:g.(?_153609093)_(153609182_?)del
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NC_000023.10:g.(?_17393881)_(20284750_?)dup
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NC_000023.10:g.(?_20173516)_(20174387_?)del
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NC_000023.10:g.(?_20173516)_(20195222_?)dup
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NC_000023.10:g.(?_20173516)_(20252952_?)dup
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NC_000023.10:g.(?_20204394)_(20206108_?)del
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NC_000023.10:g.(?_24483553)_(24557301_?)dup
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NC_000023.10:g.(?_24483563)_(24557291_?)dup
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NC_000023.10:g.(?_24483573)_(24483698_?)del
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NC_000023.10:g.(?_24483573)_(24557281_?)del
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NC_000023.10:g.(?_24483573)_(25033854_?)del
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NC_000023.10:g.(?_24512839)_(25033854_?)dup
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NC_000023.10:g.(?_24512849)_(24537137_?)dup
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NC_000023.10:g.(?_24544295)_(24557281_?)dup
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NC_000023.10:g.(?_24544305)_(25025566_?)dup
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NC_000023.10:g.(?_24549754)_(24549907_?)del
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NC_000023.10:g.(?_25013922)_(25025556_?)dup
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NC_000023.10:g.(?_25022767)_(25033874_?)dup
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NC_000023.10:g.(?_25028377)_(25033854_?)dup
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NC_000023.10:g.(?_2838632)_(2878441_?)del
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NC_000023.10:g.(?_28807461)_(33229429_?)dup
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NC_000023.10:g.(?_30322696)_(30327480_?)del
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NC_000023.10:g.(?_39911342)_(41782261_?)dup
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NC_000023.10:g.(?_39911362)_(41782241_?)del
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NC_000023.10:g.(?_40464793)_(40465007_?)dup
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NC_000023.10:g.(?_43515570)_(43603780_?)del
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NC_000023.10:g.(?_43515590)_(43817891_?)del
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NC_000023.10:g.(?_46466387)_(47489243_?)del
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NC_000023.10:g.(?_46618120)_(48549553_?)del
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NC_000023.10:g.(?_46696536)_(47436910_?)dup
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NC_000023.10:g.(?_47001716)_(50659607_?)dup
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NC_000023.10:g.(?_47432243)_(47436920_?)del
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NC_000023.10:g.(?_47432243)_(47479147_?)dup
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NC_000023.10:g.(?_47464357)_(47479147_?)dup
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NC_000023.10:g.(?_48368209)_(51241672_?)dup
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NC_000023.10:g.(?_48542223)_(48549573_?)dup
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NC_000023.10:g.(?_48542233)_(48542384_?)del
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NC_000023.10:g.(?_48542243)_(48549553_?)dup
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NC_000023.10:g.(?_48549478)_(48549573_?)dup
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NC_000023.10:g.(?_53222149)_(53622383_?)dup
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NC_000023.10:g.(?_53263381)_(53449569_?)dup
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NC_000023.10:g.(?_53263401)_(53280376_?)del
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NC_000023.10:g.(?_53270946)_(53271111_?)del
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NC_000023.10:g.(?_53272494)_(53461292_?)dup
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NC_000023.10:g.(?_53276131)_(53449569_?)dup
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NC_000023.10:g.(?_53279441)_(53280376_?)del
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NC_000023.10:g.(?_53321057)_(53461292_?)dup
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NC_000023.10:g.(?_53349595)_(53571743_?)dup
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NC_000023.10:g.(?_53349605)_(53350321_?)dup
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NC_000023.10:g.(?_62857908)_(64196257_?)dup
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NC_000023.10:g.(?_62875364)_(62944601_?)del
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NC_000023.10:g.(?_62893898)_(63005025_?)dup
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NC_000023.10:g.(?_68836133)_(69255479_?)del
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NC_000023.10:g.(?_68836153)_(68836568_?)del
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NC_000023.10:g.(?_68890034)_(69177002_?)del
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NC_000023.10:g.(?_68890034)_(69177002_?)dup
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NC_000023.10:g.(?_69080668)_(69177002_?)del
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NC_000023.10:g.(?_69080668)_(69177002_?)dup
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NC_000023.10:g.(?_69176857)_(69255459_?)del
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NC_000023.10:g.(?_69235004)_(69247795_?)del
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NC_000023.10:g.(?_69243048)_(69247906_?)del
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NC_000023.10:g.(?_69243048)_(69255479_?)del
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NC_000023.10:g.(?_69255198)_(69255469_?)del
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NC_000023.10:g.(?_69748945)_(70644108_?)dup
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NC_000023.10:g.(?_70337406)_(70363304_?)del
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NC_000023.10:g.(?_70338585)_(70362088_?)del
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NC_000023.10:g.(?_70338585)_(70362088_?)dup
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NC_000023.10:g.(?_70348944)_(70350084_?)dup
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NC_000023.10:g.(?_70348958)_(70350070_?)dup
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NC_000023.10:g.(?_70348964)_(70350064_?)dup
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NC_000023.10:g.(?_76759356)_(77042755_?)del
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NC_000023.10:g.(?_76759357)_(77042755_?)dup
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NC_000023.10:g.(?_76763809)_(76972740_?)dup
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NC_000023.10:g.(?_76763809)_(77041507_?)del
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NC_000023.10:g.(?_76763809)_(77041507_?)dup
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NC_000023.10:g.(?_76763829)_(76776414_?)del
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NC_000023.10:g.(?_76763829)_(76972740_?)dup
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NC_000023.10:g.(?_76829695)_(77041507_?)dup
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NC_000023.10:g.(?_76888675)_(77264780_?)dup
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NC_000023.10:g.(?_76937002)_(76940508_?)del
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NC_000023.10:g.(?_76937002)_(76972730_?)dup
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NC_000023.10:g.(?_76944291)_(76972740_?)del
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NC_000023.10:g.(?_76953051)_(76954137_?)dup
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NC_000023.10:g.(?_77041448)_(77041487_?)dup
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NC_000023.10:g.(?_77041448)_(77041507_?)dup
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NC_000023.10:g.(?_77150786)_(77289339_?)dup
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NC_000023.10:g.(?_77227108)_(77227268_?)del
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NC_000023.10:g.(?_77227108)_(77258743_?)del
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NC_000023.10:g.(?_77227108)_(77305902_?)dup
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NC_000023.10:g.(?_77227129)_(77302077_?)dup
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NC_000023.10:g.(?_77227139)_(77381327_?)dup
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NC_000023.10:g.(?_77243718)_(77245474_?)del
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NC_000023.10:g.(?_77243738)_(77302067_?)dup
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NC_000023.10:g.(?_77264579)_(77264780_?)dup
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NC_000023.10:g.(?_77264589)_(77264770_?)dup
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NC_000023.10:g.(?_77264993)_(77268389_?)del
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NC_000023.10:g.(?_77266653)_(77268629_?)dup
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NC_000023.10:g.(?_77266653)_(77271398_?)dup
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NC_000023.10:g.(?_77266663)_(77268619_?)dup
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NC_000023.10:g.(?_77270139)_(77271398_?)del
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NC_000023.10:g.(?_77270149)_(77305902_?)dup
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NC_000023.10:g.(?_77271231)_(77271398_?)del
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NC_000023.10:g.(?_77275721)_(77279056_?)del
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NC_000023.10:g.(?_77275721)_(77381327_?)dup
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NC_000023.10:g.(?_77275731)_(77302067_?)dup
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NC_000023.10:g.(?_77276422)_(77276596_?)del
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NC_000023.10:g.(?_77284727)_(77302087_?)dup
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NC_000023.10:g.(?_77298795)_(77302067_?)dup
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NC_000023.10:g.(?_77300947)_(77302067_?)del
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NC_000023.10:g.(?_99551255)_(99905882_?)del
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NC_000023.10:g.(?_99551255)_(99926004_?)del
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NC_000023.10:g.(?_99551255)_(99926004_?)dup
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NC_000023.10:g.(?_99551275)_(100099087_?)del
|
|
|
|
NC_000023.10:g.(?_99551275)_(101097764_?)dup
|
|
|
|
NC_000023.10:g.(?_99551275)_(99605722_?)del
|
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)del
|
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)dup
|
|
|
|
NC_000023.10:g.(?_99596891)_(99597083_?)del
|
|
|
|
NC_000023.10:g.(?_99605624)_(99605722_?)del
|
|
|
|
NC_000023.10:g.(?_99657775)_(99662816_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100296895_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100342095_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)del
|
|
|
|
NC_000023.11:g.(?_100296257)_(100408617_?)dup
|
|
|
|
NC_000023.11:g.(?_100402504)_(100402871_?)del
|
|
|
|
NC_000023.11:g.(?_100402504)_(100408617_?)del
|
|
|
|
NC_000023.11:g.(?_123885637)_(123886559_?)dup
|
|
|
|
NC_000023.11:g.(?_123885637)_(123888738_?)del
|
|
|
|
NC_000023.11:g.(?_123885637)_(123892793_?)del
|
|
|
|
NC_000023.11:g.(?_123885637)_(123907201_?)del
|
|
|
|
NC_000023.11:g.(?_123885637)_(123907201_?)dup
|
|
|
|
NC_000023.11:g.(?_123888599)_(123888738_?)dup
|
|
|
|
NC_000023.11:g.(?_123891218)_(123892793_?)del
|
|
|
|
NC_000023.11:g.(?_124346297)_(124371411_?)del
|
|
|
|
NC_000023.11:g.(?_136209233)_(136211369_?)del
|
|
|
|
NC_000023.11:g.(?_136648058)_(136654450_?)del
|
|
|
|
NC_000023.11:g.(?_136648058)_(136659435_?)del
|
|
|
|
NC_000023.11:g.(?_136650246)_(136654450_?)del
|
|
|
|
NC_000023.11:g.(?_136654353)_(136654450_?)del
|
|
|
|
NC_000023.11:g.(?_153736092)_(153743755_?)del
|
|
|
|
NC_000023.11:g.(?_153736102)_(153743735_?)del
|
|
|
|
NC_000023.11:g.(?_153736102)_(153743745_?)del
|
|
|
|
NC_000023.11:g.(?_153740082)_(153740247_?)del
|
|
|
|
NC_000023.11:g.(?_153742977)_(153743745_?)del
|
|
|
|
NC_000023.11:g.(?_153743201)_(153743755_?)del
|
|
|
|
NC_000023.11:g.(?_20155378)_(20176518_?)dup
|
|
|
|
NC_000023.11:g.(?_24465436)_(24465581_?)del
|
|
|
|
NC_000023.11:g.(?_24494722)_(24539184_?)del
|
|
|
|
NC_000023.11:g.(?_2934812)_(2958455_?)del
|
|
|
|
NC_000023.11:g.(?_2934812)_(2960420_?)del
|
|
|
|
NC_000023.11:g.(?_30304559)_(30309383_?)dup
|
|
|
|
NC_000023.11:g.(?_40581046)_(40605775_?)dup
|
|
|
|
NC_000023.11:g.(?_47572844)_(47605399_?)del
|
|
|
|
NC_000023.11:g.(?_69616289)_(69616724_?)del
|
|
|
|
NC_000023.11:g.(?_69616289)_(69670280_?)del
|
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)del
|
|
|
|
NC_000023.11:g.(?_69957007)_(69957152_?)dup
|
|
|
|
NC_000023.11:g.(?_69957017)_(69957142_?)del
|
|
|
|
NC_000023.11:g.(?_70035338)_(70035629_?)del
|
|
|
|
NC_000023.11:g.(?_71118745)_(71142228_?)dup
|
|
|
|
NC_000023.11:g.(?_71118745)_(71224569_?)dup
|
|
|
|
NC_000023.11:g.154350197_154350208del
|
|
|
|
NC_000023.11:g.71124975GTT[1]
|
|
|
|
NC_000023.11:g.71141229GCA[3]
|
|
|
|
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]
|
rs773480549
|
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
|
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=)
|
rs2148392000
|
|
|
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
|
|
|
|
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
|
|
|
|
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys)
|
rs2091726692
|
|
|
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
|
|
|
|
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
|
|
|
|
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)
|
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
|
rs2091726796
|
|
|
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
|
rs2091726809
|
|
|
NM_000033.4(ABCD1):c.1029C>T (p.Gly343=)
|
|
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
|
NM_000033.4(ABCD1):c.1035C>T (p.Leu345=)
|
rs2148392032
|
|
|
NM_000033.4(ABCD1):c.1047C>T (p.Val349=)
|
rs185931852
|
|
|
NM_000033.4(ABCD1):c.1050C>T (p.Pro350=)
|
|
|
|
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=)
|
rs1887821307
|
|
|
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=)
|
rs2148392053
|
|
|
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
|
|
|
|
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
|
|
|
|
NM_000033.4(ABCD1):c.1081+13G>A
|
|
|
|
NM_000033.4(ABCD1):c.1081+13G>C
|
|
|
|
NM_000033.4(ABCD1):c.1081+1G>A
|
rs2091727061
|
|
|
NM_000033.4(ABCD1):c.1081+1G>C
|
|
|
|
NM_000033.4(ABCD1):c.1081+20G>C
|
|
|
|
NM_000033.4(ABCD1):c.1081+5G>T
|
|
|
|
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG
|
rs2148392098
|
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
|
|
|
NM_000033.4(ABCD1):c.1082-12G>A
|
rs2148395344
|
|
|
NM_000033.4(ABCD1):c.1082-13T>C
|
rs2148395341
|
|
|
NM_000033.4(ABCD1):c.1082-13T>G
|
|
|
|
NM_000033.4(ABCD1):c.1082-15T>A
|
|
|
|
NM_000033.4(ABCD1):c.1082-15T>C
|
|
|
|
NM_000033.4(ABCD1):c.1082-15T>G
|
|
|
|
NM_000033.4(ABCD1):c.1082-16C>T
|
rs2148395336
|
|
|
NM_000033.4(ABCD1):c.1082-19C>G
|
rs374337788
|
|
|
NM_000033.4(ABCD1):c.1082-19C>T
|
|
|
|
NM_000033.4(ABCD1):c.1082-1G>A
|
rs1557054153
|
|
|
NM_000033.4(ABCD1):c.1082-20A>C
|
|
|
|
NM_000033.4(ABCD1):c.1082-20A>G
|
|
|
|
NM_000033.4(ABCD1):c.1082-4G>A
|
rs1557054152
|
|
|
NM_000033.4(ABCD1):c.1082-7T>G
|
|
|
|
NM_000033.4(ABCD1):c.1082-8C>T
|
|
|
|
NM_000033.4(ABCD1):c.1083T>C (p.Asp361=)
|
|
|
|
NM_000033.4(ABCD1):c.1089G>A (p.Glu363=)
|
|
|
|
NM_000033.4(ABCD1):c.108G>T (p.Val36=)
|
|
|
|
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
|
|
|
|
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=)
|
rs782250326
|
|
|
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
|
|
|
|
NM_000033.4(ABCD1):c.1093G>A (p.Val365Met)
|
rs782518797
|
|
|
NM_000033.4(ABCD1):c.1093G>C (p.Val365Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu)
|
|
|
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
|
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
|
|
|
|
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
|
|
|
|
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)
|
|
|
|
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
|
rs1603234451
|
|
|
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=)
|
rs2148395382
|
|
|
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=)
|
|
|
|
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
|
|
|
|
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=)
|
|
|
|
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
|
|
|
|
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
|
|
|
|
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
|
rs782266592
|
|
|
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)
|
rs782007706
|
|
|
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
|
|
|
|
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg)
|
rs2148395416
|
|
|
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)
|
|
|
|
NM_000033.4(ABCD1):c.114G>A (p.Gln38=)
|
rs2148388662
|
|
|
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro)
|
rs1205548762
|
|
|
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser)
|
rs1603234474
|
|
|
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=)
|
|
|
|
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro)
|
rs2091749101
|
|
|
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=)
|
rs2148395439
|
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
|
NM_000033.4(ABCD1):c.1167C>T (p.Arg389=)
|
|
|
|
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
|
|
|
|
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.1174C>G (p.Leu392Val)
|
|
|
|
NM_000033.4(ABCD1):c.1179A>C (p.Thr393=)
|
rs781904354
|
|
|
NM_000033.4(ABCD1):c.1179A>G (p.Thr393=)
|
rs781904354
|
|
|
NM_000033.4(ABCD1):c.117C>T (p.Cys39=)
|
rs1557052192
|
|
|
NM_000033.4(ABCD1):c.1182G>T (p.Ala394=)
|
rs782515233
|
|
|
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro)
|
rs1557054176
|
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
|
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
|
|
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
|
NM_000033.4(ABCD1):c.1198G>A (p.Glu400Lys)
|
rs2091749296
|
|
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
|
NM_000033.4(ABCD1):c.1207A>G (p.Met403Val)
|
|
|
|
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del)
|
rs2148395492
|
|
|
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=)
|
rs375656638
|
|
|
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=)
|
|
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
|
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
|
|
|
|
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
|
|
|
|
NM_000033.4(ABCD1):c.1224+20A>C
|
|
|
|
NM_000033.4(ABCD1):c.1224+2T>A
|
|
|
|
NM_000033.4(ABCD1):c.1224+4C>T
|
|
|
|
NM_000033.4(ABCD1):c.1224+7C>T
|
|
|
|
NM_000033.4(ABCD1):c.1224+8del
|
rs1440978011
|
|
|
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)
|
rs2148395507
|
|
|
NM_000033.4(ABCD1):c.1225-10C>T
|
rs2148395562
|
|
|
NM_000033.4(ABCD1):c.1225-11C>A
|
|
|
|
NM_000033.4(ABCD1):c.1225-15G>A
|
|
|
|
NM_000033.4(ABCD1):c.1225-7C>T
|
rs2091749716
|
|
|
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)
|
|
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
|
NM_000033.4(ABCD1):c.123C>A (p.Ala41=)
|
rs2091703479
|
|
|
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
|
|
|
|
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
|
|
|
|
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala)
|
rs2091749822
|
|
|
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys)
|
rs2091749844
|
|
|
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)
|
rs2091749844
|
|
|
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=)
|
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
|
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu)
|
rs2091749942
|
|
|
NM_000033.4(ABCD1):c.125C>T (p.Pro42Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1260C>T (p.His420=)
|
|
|
|
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=)
|
rs2148395615
|
|
|
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)
|
rs1557054210
|
|
|
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=)
|
|
|
|
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
|
|
|
|
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp)
|
rs2148395625
|
|
|
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
|
|
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
|
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=)
|
rs2148395631
|
|
|
NM_000033.4(ABCD1):c.1292G>A (p.Arg431His)
|
|
|
|
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr)
|
|
|
|
NM_000033.4(ABCD1):c.1296T>C (p.Cys432=)
|
|
|
|
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp)
|
rs2091750125
|
|
|
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
|
|
|
|
NM_000033.4(ABCD1):c.129C>G (p.Ala43=)
|
rs2148388691
|
|
|
NM_000033.4(ABCD1):c.12C>G (p.Leu4=)
|
rs2148388518
|
|
|
NM_000033.4(ABCD1):c.12C>T (p.Leu4=)
|
rs2148388518
|
|
|
NM_000033.4(ABCD1):c.1320A>G (p.Leu440=)
|
rs1381466544
|
|
|
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs)
|
rs2148395658
|
|
|
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu)
|
|
|
|
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=)
|
rs782419455
|
|
|
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=)
|
rs2148395665
|
|
|
NM_000033.4(ABCD1):c.1338G>C (p.Gly446=)
|
|
|
|
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met)
|
|
|
|
NM_000033.4(ABCD1):c.1354C>A (p.Arg452=)
|
rs368061976
|
|
|
NM_000033.4(ABCD1):c.1356G>A (p.Arg452=)
|
rs2148395685
|
|
|
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)
|
rs1603234574
|
|
|
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
|
|
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
|
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His)
|
rs782159028
|
|
|
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=)
|
rs1557054238
|
|
|
NM_000033.4(ABCD1):c.1377C>T (p.Gly459=)
|
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
|
NM_000033.4(ABCD1):c.1393+13C>A
|
|
|
|
NM_000033.4(ABCD1):c.1393+14C>T
|
|
|
|
NM_000033.4(ABCD1):c.1393+1G>A
|
|
|
|
NM_000033.4(ABCD1):c.1393+8T>C
|
rs2091750670
|
|
|
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT
|
|
|
|
NM_000033.4(ABCD1):c.1393+9G>T
|
|
|
|
NM_000033.4(ABCD1):c.1394-10G>A
|
|
|
|
NM_000033.4(ABCD1):c.1394-10G>C
|
|
|
|
NM_000033.4(ABCD1):c.1394-10_1394-9del
|
rs2148396014
|
|
|
NM_000033.4(ABCD1):c.1394-15G>A
|
|
|
|
NM_000033.4(ABCD1):c.1394-17C>T
|
|
|
|
NM_000033.4(ABCD1):c.1394-18G>A
|
|
|
|
NM_000033.4(ABCD1):c.1394-18G>T
|
|
|
|
NM_000033.4(ABCD1):c.1394-19C>T
|
|
|
|
NM_000033.4(ABCD1):c.1394-2A>G
|
|
|
|
NM_000033.4(ABCD1):c.1394-2_1404del
|
|
|
|
NM_000033.4(ABCD1):c.1394-3C>G
|
|
|
|
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=)
|
|
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
|
NM_000033.4(ABCD1):c.1401G>A (p.Val467=)
|
rs1603234733
|
|
|
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
|
|
|
|
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
|
rs2091752744
|
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
|
NM_000033.4(ABCD1):c.1419G>A (p.Gly473=)
|
rs2148396042
|
|
|
NM_000033.4(ABCD1):c.1419G>C (p.Gly473=)
|
|
|
|
NM_000033.4(ABCD1):c.141G>A (p.Gln47=)
|
|
|
|
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
|
|
|
|
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=)
|
rs141446687
|
|
|
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys)
|
|
|
|
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)
|
rs2148396057
|
|
|
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=)
|
|
|
|
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
|
|
|
|
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=)
|
rs2148396060
|
|
|
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
|
|
|
|
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)
|
|
|
|
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)
|
rs2148396070
|
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
|
NM_000033.4(ABCD1):c.1449G>A (p.Thr483=)
|
rs1453531275
|
|
|
NM_000033.4(ABCD1):c.144G>A (p.Ala48=)
|
rs1557052209
|
|
|
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
|
rs1603234759
|
|
|
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
|
|
|
|
NM_000033.4(ABCD1):c.1458A>G (p.Gly486=)
|
rs2091753037
|
|
|
NM_000033.4(ABCD1):c.1464G>C (p.Val488=)
|
rs2148396096
|
|
|
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)
|
rs1569540676
|
|
|
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=)
|
rs2148396110
|
|
|
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
|
|
|
|
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
|
|
|
|
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
|
|
|
|
NM_000033.4(ABCD1):c.147C>T (p.Pro49=)
|
rs782397391
|
|
|
NM_000033.4(ABCD1):c.1485C>T (p.Ile495=)
|
rs1557054328
|
|
|
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
|
|
|
|
NM_000033.4(ABCD1):c.1488+10G>A
|
rs1847185945
|
|
|
NM_000033.4(ABCD1):c.1488+12G>A
|
|
|
|
NM_000033.4(ABCD1):c.1488+17G>C
|
|
|
|
NM_000033.4(ABCD1):c.1488+1G>A
|
rs2091753176
|
|
|
NM_000033.4(ABCD1):c.1488+20C>G
|
|
|
|
NM_000033.4(ABCD1):c.1488+5G>C
|
rs2091753189
|
|
|
NM_000033.4(ABCD1):c.1488+7C>T
|
|
|
|
NM_000033.4(ABCD1):c.1488+9A>G
|
rs1603234781
|
|
|
NM_000033.4(ABCD1):c.1489-10G>A
|
|
|
|
NM_000033.4(ABCD1):c.1489-14T>C
|
|
|
|
NM_000033.4(ABCD1):c.1489-17G>A
|
|
|
|
NM_000033.4(ABCD1):c.1489-17G>C
|
rs375632296
|
|
|
NM_000033.4(ABCD1):c.1489-1G>A
|
rs1603235263
|
|
|
NM_000033.4(ABCD1):c.1489-20A>G
|
|
|
|
NM_000033.4(ABCD1):c.1489-2A>G
|
|
|
|
NM_000033.4(ABCD1):c.1489-4G>C
|
rs1318153626
|
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
|
NM_000033.4(ABCD1):c.1489-9C>A
|
rs782323354
|
|
|
NM_000033.4(ABCD1):c.1489-9C>T
|
|
|
|
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
|
|
|
|
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
|
|
|
|
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=)
|
rs2091762206
|
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
|
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)
|
rs2148397523
|
|
|
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
|
rs2091762267
|
|
|
NM_000033.4(ABCD1):c.150C>T (p.Ala50=)
|
rs1932354237
|
|
|
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr)
|
rs1557054740
|
|
|
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
|
|
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)
|
rs2148397545
|
|
|
NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
|
|
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
|
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His)
|
rs1569541087
|
|
|
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)
|
rs1569541087
|
|
|
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)
|
rs2148397558
|
|
|
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
|
rs2091762383
|
|
|
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
|
|
|
|
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
|
rs2091762396
|
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
|
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
|
rs1569541088
|
|
|
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)
|
rs2148397565
|
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
|
|
|
|
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)
|
rs2148388737
|
|
|
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)
|
rs128624224
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
|
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)
|
|
|
|
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
|
|
|
|
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)
|
rs1159943880
|
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
|
NM_000033.4(ABCD1):c.1569C>G (p.Leu523=)
|
rs2148397606
|
|
|
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
|
|
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
|
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=)
|
rs2091762690
|
|
|
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)
|
|
|
|
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe)
|
rs2148397623
|
|
|
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=)
|
rs2148397628
|
|
|
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn)
|
rs1569541092
|
|
|
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1605A>G (p.Pro535=)
|
rs2091762849
|
|
|
NM_000033.4(ABCD1):c.1608C>T (p.Pro536=)
|
|
|
|
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His)
|
|
|
|
NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val)
|
rs782440686
|
|
|
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
|
|
|
|
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
|
|
|
|
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
|
|
|
|
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys)
|
rs2148397662
|
|
|
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)
|
|
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
|
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
|
rs1603235321
|
|
|
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=)
|
|
|
|
NM_000033.4(ABCD1):c.162G>A (p.Thr54=)
|
|
|
|
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
|
rs2091763089
|
|
|
NM_000033.4(ABCD1):c.1634+11C>G
|
|
|
|
NM_000033.4(ABCD1):c.1634+13G>A
|
|
|
|
NM_000033.4(ABCD1):c.1634+16C>T
|
|
|
|
NM_000033.4(ABCD1):c.1634+17G>A
|
|
|
|
NM_000033.4(ABCD1):c.1634+1G>C
|
|
|
|
NM_000033.4(ABCD1):c.1634+1G>T
|
|
|
|
NM_000033.4(ABCD1):c.1634+9G>A
|
rs2148397684
|
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
|
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
|
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
|
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val)
|
rs201054474
|
|
|
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
|
|
|
|
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile)
|
rs1569541112
|
|
|
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys)
|
rs2148397892
|
|
|
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp)
|
rs2148397896
|
|
|
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
|
|
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
|
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=)
|
rs2148397902
|
|
|
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)
|
rs2148397899
|
|
|
NM_000033.4(ABCD1):c.1659G>A (p.Leu553=)
|
|
|
|
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
|
|
|
|
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)
|
rs1569541115
|
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
|
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
|
|
|
|
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His)
|
rs2091764450
|
|
|
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
|
|
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
|
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)
|
rs2148397922
|
|
|
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
|
rs2091764526
|
|
|
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)
|
rs398123105
|
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
|
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn)
|
rs2091764566
|
|
|
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
|
|
|
|
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=)
|
rs199997983
|
|
|
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr)
|
rs2091764595
|
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
|
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=)
|
|
|
|
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
|
rs2091764622
|
|
|
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
|
|
|
|
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)
|
rs2148397936
|
|
|
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)
|
|
|
|
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)
|
rs1557052133
|
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
|
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1716G>T (p.Ser572=)
|
rs1482177539
|
|
|
NM_000033.4(ABCD1):c.1719G>A (p.Glu573=)
|
rs2148397951
|
|
|
NM_000033.4(ABCD1):c.171C>T (p.Ala57=)
|
rs782317790
|
|
|
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)
|
rs2148397954
|
|
|
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
|
|
|
|
NM_000033.4(ABCD1):c.1734C>T (p.Ala578=)
|
rs782803612
|
|
|
NM_000033.4(ABCD1):c.173C>G (p.Ser58Cys)
|
|
|
|
NM_000033.4(ABCD1):c.173C>T (p.Ser58Phe)
|
rs781943986
|
|
|
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
|
rs2091764754
|
|
|
NM_000033.4(ABCD1):c.1742_1781-968del
|
|
|
|
NM_000033.4(ABCD1):c.1746C>G (p.Val582=)
|
rs1557054863
|
|
|
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu)
|
rs79383557
|
|
|
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
|
|
|
|
NM_000033.4(ABCD1):c.174C>T (p.Ser58=)
|
|
|
|
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
|
|
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
|
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
|
|
|
|
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=)
|
rs2091765039
|
|
|
NM_000033.4(ABCD1):c.1773G>C (p.Arg591=)
|
|
|
|
NM_000033.4(ABCD1):c.177G>A (p.Gly59=)
|
rs2148388761
|
|
|
NM_000033.4(ABCD1):c.1780+14G>A
|
|
|
|
NM_000033.4(ABCD1):c.1780+2T>G
|
rs1557054875
|
|
|
NM_000033.4(ABCD1):c.1780+5_1780+6insT
|
|
|
|
NM_000033.4(ABCD1):c.1780+7G>A
|
rs2148398011
|
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)
|
rs2148398002
|
|
|
NM_000033.4(ABCD1):c.1781-16C>A
|
|
|
|
NM_000033.4(ABCD1):c.1781-16C>G
|
|
|
|
NM_000033.4(ABCD1):c.1781-16C>T
|
rs781992192
|
|
|
NM_000033.4(ABCD1):c.1781-7C>T
|
rs79915675
|
|
|
NM_000033.4(ABCD1):c.1781-7del
|
|
|
|
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
|
rs1603235901
|
|
|
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)
|
rs2148398982
|
|
|
NM_000033.4(ABCD1):c.1788G>A (p.Glu596=)
|
|
|
|
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=)
|
|
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
|
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
|
|
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
|
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=)
|
rs1228301857
|
|
|
NM_000033.4(ABCD1):c.180C>A (p.Val60=)
|
|
|
|
NM_000033.4(ABCD1):c.180C>T (p.Val60=)
|
rs2148388770
|
|
|
NM_000033.4(ABCD1):c.1812C>T (p.Val604=)
|
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
|
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=)
|
|
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
|
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)
|
rs128624225
|
|
|
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=)
|
rs140263823
|
|
|
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp)
|
rs2091772324
|
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
|
NM_000033.4(ABCD1):c.1821T>G (p.Gly607=)
|
|
|
|
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
|
rs2091772331
|
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
|
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)
|
rs78993751
|
|
|
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)
|
|
|
|
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=)
|
|
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
|
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)
|
rs2148399034
|
|
|
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)
|
rs1557055260
|
|
|
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=)
|
|
|
|
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
|
|
|
|
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
|
|
|
|
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
|
|
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
|
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=)
|
rs2148399072
|
|
|
NM_000033.4(ABCD1):c.1865+17G>A
|
rs377149542
|
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
|
NM_000033.4(ABCD1):c.1865+7A>G
|
|
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
|
NM_000033.4(ABCD1):c.1866-10G>T
|
rs398123108
|
|
|
NM_000033.4(ABCD1):c.1866-13C>T
|
rs200238438
|
|
|
NM_000033.4(ABCD1):c.1866-15G>A
|
|
|
|
NM_000033.4(ABCD1):c.1866-16C>T
|
|
|
|
NM_000033.4(ABCD1):c.1866-18C>T
|
|
|
|
NM_000033.4(ABCD1):c.1866-19T>C
|
|
|
|
NM_000033.4(ABCD1):c.1866-1G>A
|
rs1557055311
|
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
|
NM_000033.4(ABCD1):c.1866-4C>T
|
rs2091773412
|
|
|
NM_000033.4(ABCD1):c.1866-7C>A
|
|
|
|
NM_000033.4(ABCD1):c.1866-7C>T
|
rs1569541199
|
|
|
NM_000033.4(ABCD1):c.186G>A (p.Ala62=)
|
|
|
|
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=)
|
rs1557055315
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
|
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
|
|
|
|
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
|
|
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
|
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=)
|
rs782072619
|
|
|
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)
|
rs2148399209
|
|
|
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
|
rs2091773525
|
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
|
NM_000033.4(ABCD1):c.189C>G (p.Ala63=)
|
rs781837108
|
|
|
NM_000033.4(ABCD1):c.189C>T (p.Ala63=)
|
|
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
|
NM_000033.4(ABCD1):c.1905G>T (p.Val635=)
|
|
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
|
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His)
|
rs886044887
|
|
|
NM_000033.4(ABCD1):c.1917G>A (p.Val639=)
|
|
|
|
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
|
|
|
|
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
|
rs1603236012
|
|
|
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=)
|
rs2148399250
|
|
|
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
|
|
|
|
NM_000033.4(ABCD1):c.1929C>A (p.Ile643=)
|
rs2148399255
|
|
|
NM_000033.4(ABCD1):c.1932C>T (p.Phe644=)
|
rs2148399261
|
|
|
NM_000033.4(ABCD1):c.1933del (p.Gln645fs)
|
rs1603236013
|
|
|
NM_000033.4(ABCD1):c.1935G>A (p.Gln645=)
|
|
|
|
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1941C>T (p.Ala647=)
|
rs2148399272
|
|
|
NM_000033.4(ABCD1):c.1944G>A (p.Lys648=)
|
rs2148399276
|
|
|
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
|
|
|
|
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr)
|
rs1557055332
|
|
|
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro)
|
rs1557055332
|
|
|
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val)
|
rs1557055333
|
|
|
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=)
|
rs74315281
|
|
|
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val)
|
rs2091773987
|
|
|
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
|
|
|
|
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
|
rs2091774046
|
|
|
NM_000033.4(ABCD1):c.1965C>G (p.Leu655=)
|
|
|
|
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=)
|
|
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
|
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)
|
rs1603236020
|
|
|
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=)
|
|
|
|
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala)
|
rs2148399309
|
|
|
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr)
|
rs2091774102
|
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
|
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)
|
rs1557055340
|
|
|
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
|
|
|
|
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=)
|
|
|
|
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro)
|
rs2148399322
|
|
|
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=)
|
rs2148399324
|
|
|
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)
|
rs2148399327
|
|
|
NM_000033.4(ABCD1):c.198C>T (p.Gly66=)
|
|
|
|
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)
|
rs2148399330
|
|
|
NM_000033.4(ABCD1):c.1991+10C>G
|
|
|
|
NM_000033.4(ABCD1):c.1991+14C>T
|
|
|
|
NM_000033.4(ABCD1):c.1991+1G>A
|
|
|
|
NM_000033.4(ABCD1):c.1991+3A>G
|
|
|
|
NM_000033.4(ABCD1):c.1992-10T>C
|
rs2148399435
|
|
|
NM_000033.4(ABCD1):c.1992-2A>G
|
rs797044626
|
|
|
NM_000033.4(ABCD1):c.1992-4C>T
|
|
|
|
NM_000033.4(ABCD1):c.1992-6G>A
|
|
|
|
NM_000033.4(ABCD1):c.1992-8C>T
|
rs1603236074
|
|
|
NM_000033.4(ABCD1):c.1992-9C>A
|
|
|
|
NM_000033.4(ABCD1):c.1992-9C>T
|
rs1424057229
|
|
|
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser)
|
rs2091775035
|
|
|
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys)
|
rs2091775035
|
|
|
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)
|
rs1170974058
|
|
|
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)
|
rs1557055392
|
|
|
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)
|
rs2091775068
|
|
|
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
|
rs2091775068
|
|
|
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)
|
|
|
|
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
|
rs2091702389
|
|
|
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro)
|
rs1603236086
|
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
|
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)
|
rs1557055398
|
|
|
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
|
rs2091775127
|
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
|
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln)
|
rs2148399466
|
|
|
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
|
|
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
|
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
|
|
|
|
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
|
|
|
|
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
|
|
|
|
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)
|
rs2148399483
|
|
|
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu)
|
rs782327280
|
|
|
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=)
|
rs782327280
|
|
|
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
|
|
|
|
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=)
|
rs1569541208
|
|
|
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
|
|
|
|
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)
|
rs2091775375
|
|
|
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
|
|
|
|
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
|
|
|
|
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
|
|
|
|
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
|
|
|
|
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=)
|
rs1557055415
|
|
|
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met)
|
rs782311214
|
|
|
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=)
|
rs2148399523
|
|
|
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=)
|
|
|
|
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
|
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
|
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=)
|
|
|
|
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
|
|
|
|
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=)
|
rs2148399557
|
|
|
NM_000033.4(ABCD1):c.2118T>A (p.Ile706=)
|
rs1557055431
|
|
|
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
|
|
|
|
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=)
|
rs1557055435
|
|
|
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
|
|
|
|
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His)
|
rs1557055447
|
|
|
NM_000033.4(ABCD1):c.2136C>T (p.Arg712=)
|
|
|
|
NM_000033.4(ABCD1):c.2139C>T (p.Leu713=)
|
|
|
|
NM_000033.4(ABCD1):c.2148C>T (p.Leu716=)
|
|
|
|
NM_000033.4(ABCD1):c.214C>T (p.Leu72=)
|
rs2148388808
|
|
|
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
|
|
|
|
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
|
|
|
|
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=)
|
|
|
|
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
|
|
|
|
NM_000033.4(ABCD1):c.2169C>G (p.Ala723=)
|
|
|
|
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=)
|
rs2148399612
|
|
|
NM_000033.4(ABCD1):c.2178A>G (p.Pro726=)
|
|
|
|
NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
|
|
|
|
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
|
|
|
|
NM_000033.4(ABCD1):c.2184T>C (p.His728=)
|
|
|
|
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser)
|
rs1603236153
|
|
|
NM_000033.4(ABCD1):c.2190G>C (p.Pro730=)
|
rs193922096
|
|
|
NM_000033.4(ABCD1):c.2199C>T (p.Ser733=)
|
rs2148399640
|
|
|
NM_000033.4(ABCD1):c.21C>T (p.Pro7=)
|
rs2148388528
|
|
|
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu)
|
rs368462762
|
|
|
NM_000033.4(ABCD1):c.2208C>T (p.Gly736=)
|
|
|
|
NM_000033.4(ABCD1):c.2211T>C (p.Pro737=)
|
|
|
|
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=)
|
rs2148399657
|
|
|
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter)
|
rs2091776291
|
|
|
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp)
|
rs1603236168
|
|
|
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
|
|
|
|
NM_000033.4(ABCD1):c.225C>A (p.Leu75=)
|
|
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
|
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
|
|
|
|
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
|
|
|
|
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
|
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
|
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
|
rs1603231784
|
|
|
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp)
|
rs868977355
|
|
|
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
|
|
|
|
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
|
|
|
|
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
|
|
|
|
NM_000033.4(ABCD1):c.244C>T (p.Leu82=)
|
|
|
|
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
|
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
|
NM_000033.4(ABCD1):c.254G>C (p.Arg85Pro)
|
rs782221851
|
|
|
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu)
|
rs782221851
|
|
|
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del)
|
rs2091704899
|
|
|
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp)
|
rs2148388871
|
|
|
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
|
rs2091705016
|
|
|
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
|
|
|
|
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln)
|
|
|
|
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
|
|
|
|
NM_000033.4(ABCD1):c.273G>A (p.Thr91=)
|
rs2148388896
|
|
|
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
|
|
|
|
NM_000033.4(ABCD1):c.282G>A (p.Leu94=)
|
rs2148388909
|
|
|
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
|
|
|
|
NM_000033.4(ABCD1):c.285C>A (p.Ala95=)
|
|
|
|
NM_000033.4(ABCD1):c.285C>T (p.Ala95=)
|
|
|
|
NM_000033.4(ABCD1):c.286C>T (p.Leu96=)
|
|
|
|
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
|
rs2091705296
|
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
|
NM_000033.4(ABCD1):c.292T>C (p.Ser98Pro)
|
|
|
|
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
|
|
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
|
NM_000033.4(ABCD1):c.297C>G (p.Ala99=)
|
rs889405096
|
|
|
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)
|
|
|
|
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro)
|
rs1557052298
|
|
|
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)
|
rs2148388538
|
|
|
NM_000033.4(ABCD1):c.300C>A (p.Ala100=)
|
|
|
|
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
|
|
|
|
NM_000033.4(ABCD1):c.306G>A (p.Val102=)
|
rs2148388966
|
|
|
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
|
|
|
|
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)
|
rs1304001811
|
|
|
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)
|
|
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
|
NM_000033.4(ABCD1):c.318C>T (p.Phe106=)
|
|
|
|
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
|
NM_000033.4(ABCD1):c.324G>C (p.Ser108=)
|
|
|
|
NM_000033.4(ABCD1):c.324G>T (p.Ser108=)
|
|
|
|
NM_000033.4(ABCD1):c.327G>A (p.Val109=)
|
|
|
|
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro)
|
rs782122122
|
|
|
NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
|
|
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
|
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)
|
rs2148389007
|
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
|
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
|
rs398123110
|
|
|
NM_000033.4(ABCD1):c.351G>A (p.Arg117=)
|
|
|
|
NM_000033.4(ABCD1):c.352C>T (p.Leu118=)
|
|
|
|
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser)
|
|
|
|
NM_000033.4(ABCD1):c.357C>T (p.Ala119=)
|
rs1603231862
|
|
|
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
|
|
|
|
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)
|
|
|
|
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
|
rs1603231653
|
|
|
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)
|
rs1603231653
|
|
|
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)
|
|
|
|
NM_000033.4(ABCD1):c.372C>G (p.Arg124=)
|
rs2148389085
|
|
|
NM_000033.4(ABCD1):c.378C>T (p.Asp126=)
|
|
|
|
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)
|
|
|
|
NM_000033.4(ABCD1):c.390T>C (p.Phe130=)
|
rs2148389114
|
|
|
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
|
|
|
|
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
|
|
|
|
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
|
|
|
|
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
|
|
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
|
NM_000033.4(ABCD1):c.408G>A (p.Gln136=)
|
|
|
|
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
|
rs1603231897
|
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
|
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)
|
rs1557052351
|
|
|
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
|
|
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
|
NM_000033.4(ABCD1):c.423C>T (p.Ala141=)
|
rs2091706712
|
|
|
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
|
|
|
|
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
|
|
|
|
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
|
|
|
|
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala)
|
rs1292006620
|
|
|
NM_000033.4(ABCD1):c.435C>G (p.Thr145=)
|
|
|
|
NM_000033.4(ABCD1):c.438C>T (p.Phe146=)
|
|
|
|
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile)
|
|
|
|
NM_000033.4(ABCD1):c.43C>T (p.Leu15=)
|
rs2148388577
|
|
|
NM_000033.4(ABCD1):c.441C>T (p.Val147=)
|
rs2148389207
|
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
|
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)
|
rs1557052362
|
|
|
NM_000033.4(ABCD1):c.450C>T (p.Ala150=)
|
|
|
|
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
|
|
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
|
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)
|
rs1569540693
|
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
|
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
|
|
|
|
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)
|
rs1557052367
|
|
|
NM_000033.4(ABCD1):c.45G>A (p.Leu15=)
|
|
|
|
NM_000033.4(ABCD1):c.460C>T (p.Leu154=)
|
rs781895141
|
|
|
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp)
|
rs2091707109
|
|
|
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
|
|
|
|
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
|
|
|
|
NM_000033.4(ABCD1):c.474G>A (p.Leu158=)
|
|
|
|
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
|
|
|
|
NM_000033.4(ABCD1):c.478C>T (p.Leu160=)
|
rs2091707295
|
|
|
NM_000033.4(ABCD1):c.480G>A (p.Leu160=)
|
rs2148389255
|
|
|
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)
|
rs373957035
|
|
|
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
|
rs2091707458
|
|
|
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
|
rs2148389278
|
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
|
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
|
|
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
|
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)
|
rs1057517954
|
|
|
NM_000033.4(ABCD1):c.489C>T (p.Arg163=)
|
|
|
|
NM_000033.4(ABCD1):c.495T>G (p.Arg165=)
|
rs2148389295
|
|
|
NM_000033.4(ABCD1):c.498G>A (p.Leu166=)
|
|
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
|
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
|
|
|
|
NM_000033.4(ABCD1):c.501G>C (p.Val167=)
|
rs2148389307
|
|
|
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
|
|
|
|
NM_000033.4(ABCD1):c.504C>T (p.Ala168=)
|
|
|
|
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
|
|
|
|
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=)
|
|
|
|
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys)
|
|
|
|
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
|
|
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
|
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)
|
rs2148389350
|
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
|
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu)
|
rs2091708007
|
|
|
NM_000033.4(ABCD1):c.531G>A (p.Gln177=)
|
|
|
|
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)
|
rs1557052397
|
|
|
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
|
|
|
|
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys)
|
rs2091708150
|
|
|
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys)
|
|
|
|
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser)
|
rs1557052401
|
|
|
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
|
rs1603232005
|
|
|
NM_000033.4(ABCD1):c.546G>A (p.Arg182=)
|
|
|
|
NM_000033.4(ABCD1):c.546G>T (p.Arg182=)
|
rs2091708238
|
|
|
NM_000033.4(ABCD1):c.549C>G (p.Val183=)
|
|
|
|
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)
|
|
|
|
NM_000033.4(ABCD1):c.562G>T (p.Gly188Trp)
|
|
|
|
NM_000033.4(ABCD1):c.564G>C (p.Gly188=)
|
rs1603232017
|
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
|
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)
|
|
|
|
NM_000033.4(ABCD1):c.573C>A (p.Arg191=)
|
|
|
|
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
|
rs2091708534
|
|
|
NM_000033.4(ABCD1):c.579T>G (p.Pro193=)
|
|
|
|
NM_000033.4(ABCD1):c.57C>T (p.Ala19=)
|
rs1603231679
|
|
|
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn)
|
rs2091708552
|
|
|
NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)
|
|
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
|
NM_000033.4(ABCD1):c.582C>T (p.Asp194=)
|
|
|
|
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
|
|
|
|
NM_000033.4(ABCD1):c.588T>C (p.Ser196=)
|
|
|
|
NM_000033.4(ABCD1):c.589C>T (p.Leu197=)
|
rs2148389466
|
|
|
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)
|
rs2148389462
|
|
|
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
|
|
|
|
NM_000033.4(ABCD1):c.591G>A (p.Leu197=)
|
rs2148389468
|
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
|
NM_000033.4(ABCD1):c.594G>C (p.Thr198=)
|
rs782046246
|
|
|
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)
|
rs2091708688
|
|
|
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu)
|
|
|
|
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu)
|
rs782724538
|
|
|
NM_000033.4(ABCD1):c.603G>T (p.Val201=)
|
|
|
|
NM_000033.4(ABCD1):c.609C>G (p.Ala203=)
|
|
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
|
NM_000033.4(ABCD1):c.615G>A (p.Ala205=)
|
rs782601474
|
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
|
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)
|
rs2148389516
|
|
|
NM_000033.4(ABCD1):c.633C>G (p.Leu211=)
|
rs145009407
|
|
|
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr)
|
rs782567718
|
|
|
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe)
|
rs782567718
|
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
|
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile)
|
rs1603232050
|
|
|
NM_000033.4(ABCD1):c.648C>G (p.Thr216=)
|
rs782200450
|
|
|
NM_000033.4(ABCD1):c.648C>T (p.Thr216=)
|
|
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
|
NM_000033.4(ABCD1):c.658C>T (p.Leu220=)
|
rs2148389558
|
|
|
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
|
rs2091709142
|
|
|
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
|
|
|
|
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
|
rs2091709198
|
|
|
NM_000033.4(ABCD1):c.668_900+291del
|
rs2148389592
|
|
|
NM_000033.4(ABCD1):c.669T>C (p.Ala223=)
|
rs2148389594
|
|
|
NM_000033.4(ABCD1):c.66G>C (p.Leu22=)
|
|
|
|
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
|
|
|
|
NM_000033.4(ABCD1):c.684C>T (p.Thr228=)
|
rs2148389624
|
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
|
NM_000033.4(ABCD1):c.696G>A (p.Ala232=)
|
rs147595334
|
|
|
NM_000033.4(ABCD1):c.697del (p.Ala233fs)
|
rs2148389670
|
|
|
NM_000033.4(ABCD1):c.6G>A (p.Pro2=)
|
rs2091702415
|
|
|
NM_000033.4(ABCD1):c.6G>T (p.Pro2=)
|
|
|
|
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
|
|
|
|
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
|
rs1557052478
|
|
|
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)
|
|
|
|
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu)
|
rs782723557
|
|
|
NM_000033.4(ABCD1):c.702C>T (p.Arg234=)
|
rs2148389678
|
|
|
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
|
|
|
|
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)
|
|
|
|
NM_000033.4(ABCD1):c.708T>G (p.Arg236=)
|
|
|
|
NM_000033.4(ABCD1):c.70del (p.Leu24fs)
|
rs1557052171
|
|
|
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
|
|
|
|
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)
|
|
|
|
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
|
|
|
|
NM_000033.4(ABCD1):c.720A>C (p.Thr240=)
|
rs1302310288
|
|
|
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
|
rs1603232111
|
|
|
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
|
|
|
|
NM_000033.4(ABCD1):c.732G>C (p.Ser244=)
|
rs782643462
|
|
|
NM_000033.4(ABCD1):c.732G>T (p.Ser244=)
|
|
|
|
NM_000033.4(ABCD1):c.738C>T (p.Ile246=)
|
rs2148389730
|
|
|
NM_000033.4(ABCD1):c.741C>T (p.Ala247=)
|
|
|
|
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
|
|
|
|
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
|
|
|
|
NM_000033.4(ABCD1):c.747C>G (p.Leu249=)
|
rs2091710297
|
|
|
NM_000033.4(ABCD1):c.747C>T (p.Leu249=)
|
rs2091710297
|
|
|
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
|
|
|
|
NM_000033.4(ABCD1):c.750G>A (p.Val250=)
|
|
|
|
NM_000033.4(ABCD1):c.750G>C (p.Val250=)
|
rs782196006
|
|
|
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
|
|
|
|
NM_000033.4(ABCD1):c.75G>A (p.Ala25=)
|
|
|
|
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)
|
rs2148389772
|
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
|
NM_000033.4(ABCD1):c.762G>A (p.Thr254=)
|
|
|
|
NM_000033.4(ABCD1):c.762G>C (p.Thr254=)
|
|
|
|
NM_000033.4(ABCD1):c.762G>T (p.Thr254=)
|
rs1557052528
|
|
|
NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
|
|
|
|
NM_000033.4(ABCD1):c.765C>G (p.Ala255=)
|
rs2148389784
|
|
|
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)
|
rs1557052530
|
|
|
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
|
|
|
|
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro)
|
rs1569540731
|
|
|
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
|
|
|
|
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
|
|
|
|
NM_000033.4(ABCD1):c.780C>A (p.Ala260=)
|
|
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
|
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
|
rs2091710960
|
|
|
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
|
|
|
|
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)
|
rs2148389834
|
|
|
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser)
|
rs1603232171
|
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
|
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
|
rs2091711094
|
|
|
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
|
|
|
|
NM_000033.4(ABCD1):c.798G>A (p.Gly266=)
|
rs2148389855
|
|
|
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
|
|
|
|
NM_000033.4(ABCD1):c.804G>A (p.Leu268=)
|
rs1270284411
|
|
|
NM_000033.4(ABCD1):c.804G>C (p.Leu268=)
|
|
|
|
NM_000033.4(ABCD1):c.805G>A (p.Val269Met)
|
rs2091711117
|
|
|
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
|
|
|
|
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly)
|
rs2091711183
|
|
|
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser)
|
rs1324272283
|
|
|
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu)
|
rs868992338
|
|
|
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
|
rs2091711370
|
|
|
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
|
|
|
|
NM_000033.4(ABCD1):c.825G>A (p.Arg275=)
|
rs2148389893
|
|
|
NM_000033.4(ABCD1):c.828G>A (p.Lys276=)
|
rs2148389897
|
|
|
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
|
|
|
|
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
|
rs1603232195
|
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
|
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
|
|
|
|
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)
|
rs2091711473
|
|
|
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
|
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
|
NM_000033.4(ABCD1):c.841_853del (p.Tyr281fs)
|
|
|
|
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
|
rs782509393
|
|
|
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)
|
rs782509393
|
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
|
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)
|
rs2148389929
|
|
|
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
|
|
|
|
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)
|
rs2091711722
|
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
|
NM_000033.4(ABCD1):c.852G>A (p.Ser284=)
|
rs1034154728
|
|
|
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
|
|
|
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)
|
rs782334088
|
|
|
NM_000033.4(ABCD1):c.855T>C (p.Arg285=)
|
rs1471236066
|
|
|
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)
|
|
|
|
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
|
|
|
|
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
|
|
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
|
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
|
|
|
|
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
|
|
|
|
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)
|
rs2148389975
|
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
|
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)
|
rs1557052573
|
|
|
NM_000033.4(ABCD1):c.879C>T (p.Ile293=)
|
rs1176122000
|
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
|
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=)
|
rs2091712169
|
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
|
NM_000033.4(ABCD1):c.893dup (p.His299fs)
|
|
|
|
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
|
|
NM_000033.4(ABCD1):c.900+17T>A
|
|
|
|
NM_000033.4(ABCD1):c.900+18G>A
|
|
|
|
NM_000033.4(ABCD1):c.900+20C>T
|
|
|
|
NM_000033.4(ABCD1):c.900+6dup
|
|
|
|
NM_000033.4(ABCD1):c.900+8A>G
|
rs2148390036
|
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
|
NM_000033.4(ABCD1):c.901-18G>A
|
|
|
|
NM_000033.4(ABCD1):c.901-2A>G
|
rs2148391907
|
|
|
NM_000033.4(ABCD1):c.901-4G>C
|
rs782306934
|
|
|
NM_000033.4(ABCD1):c.901-5C>A
|
rs782603062
|
|
|
NM_000033.4(ABCD1):c.901-5del
|
rs782805046
|
|
|
NM_000033.4(ABCD1):c.901-5dup
|
|
|
|
NM_000033.4(ABCD1):c.901-6C>G
|
|
|
|
NM_000033.4(ABCD1):c.901-7C>A
|
|
|
|
NM_000033.4(ABCD1):c.901-8C>T
|
|
|
|
NM_000033.4(ABCD1):c.901-9C>T
|
rs782602840
|
|
|
NM_000033.4(ABCD1):c.901-9_903del
|
rs2148391889
|
|
|
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
|
|
|
|
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)
|
rs2091726251
|
|
|
NM_000033.4(ABCD1):c.912C>G (p.Ala304=)
|
|
|
|
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
|
|
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
|
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro)
|
rs781978255
|
|
|
NM_000033.4(ABCD1):c.924C>T (p.Arg308=)
|
|
|
|
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
|
|
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
|
NM_000033.4(ABCD1):c.936C>T (p.Asp312=)
|
rs782131008
|
|
|
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln)
|
rs2091726449
|
|
|
NM_000033.4(ABCD1):c.93A>G (p.Lys31=)
|
rs2148388633
|
|
|
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro)
|
rs2091726463
|
|
|
NM_000033.4(ABCD1):c.945G>T (p.Ser315=)
|
rs145545199
|
|
|
NM_000033.4(ABCD1):c.948G>A (p.Gln316=)
|
rs2148391960
|
|
|
NM_000033.4(ABCD1):c.951C>A (p.Ile317=)
|
rs2148391963
|
|
|
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
|
|
|
|
NM_000033.4(ABCD1):c.957C>G (p.Leu319=)
|
|
|
|
NM_000033.4(ABCD1):c.963T>C (p.Leu321=)
|
|
|
|
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)
|
rs2148391974
|
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
|
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
|
|
|
|
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro)
|
rs148904415
|
|
|
NM_000033.4(ABCD1):c.975G>T (p.Leu325=)
|
|
|
|
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=)
|
rs1179912920
|
|
|
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile)
|
rs2148391987
|
|
|
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly)
|
rs2148391989
|
|
|
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
|
|
|
|
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del)
|
rs1603233113
|
|
|
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
|
|
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
|
NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)
|
|
|
|
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
|
rs2091726671
|
|
|
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
|
|
|
|
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
|
|
|
|
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met)
|
rs2149083240
|
|
|
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
|
|
|
|
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
|
|
|
|
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=)
|
rs374656309
|
|
|
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
|
|
|
|
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
|
|
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|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
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|
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
|
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|
|
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
|
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NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
|
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|
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala)
|
rs1557231859
|
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NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
|
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|
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
|
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|
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
|
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|
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
|
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NM_000052.7(ATP7A):c.1074C>T (p.Pro358=)
|
rs2149083275
|
|
|
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
|
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|
|
NM_000052.7(ATP7A):c.108G>A (p.Val36=)
|
rs2149073882
|
|
|
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
|
|
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|
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)
|
rs782616685
|
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|
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)
|
rs2077659011
|
|
|
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
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|
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
|
rs1603378831
|
|
|
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
|
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|
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=)
|
rs2149083320
|
|
|
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
|
|
|
|
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
|
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|
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
|
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|
|
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
|
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|
|
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg)
|
rs2149083331
|
|
|
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro)
|
rs1569549600
|
|
|
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=)
|
rs2149083338
|
|
|
NM_000052.7(ATP7A):c.1176G>A (p.Val392=)
|
rs2149083343
|
|
|
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
|
|
|
|
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
|
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NM_000052.7(ATP7A):c.1182T>C (p.Ser394=)
|
rs2149083355
|
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NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
|
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|
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
|
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|
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
|
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|
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=)
|
rs2149083372
|
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|
NM_000052.7(ATP7A):c.120+14T>C
|
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NM_000052.7(ATP7A):c.120+15G>A
|
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NM_000052.7(ATP7A):c.120+20C>T
|
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|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
|
NM_000052.7(ATP7A):c.120+8A>T
|
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|
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
|
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|
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
|
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|
|
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
|
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|
NM_000052.7(ATP7A):c.121-12T>G
|
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NM_000052.7(ATP7A):c.121-14T>G
|
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NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
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|
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
|
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|
|
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
|
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|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
|
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
|
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|
|
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
|
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|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
|
NM_000052.7(ATP7A):c.126A>G (p.Ser42=)
|
rs2149082519
|
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
|
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
|
|
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
|
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|
|
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
|
|
|
|
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
|
|
|
|
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)
|
rs2149083467
|
|
|
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu)
|
rs2149083480
|
|
|
NM_000052.7(ATP7A):c.1336+10A>G
|
|
|
|
NM_000052.7(ATP7A):c.1336+3A>G
|
|
|
|
NM_000052.7(ATP7A):c.1336+7dup
|
|
|
|
NM_000052.7(ATP7A):c.1336+9C>A
|
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|
|
NM_000052.7(ATP7A):c.1337-16T>A
|
|
|
|
NM_000052.7(ATP7A):c.1337-17C>G
|
|
|
|
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
|
|
|
|
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=)
|
rs2149087769
|
|
|
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
|
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=)
|
rs782421584
|
|
|
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
|
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
|
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
|
|
|
|
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala)
|
rs2149087825
|
|
|
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=)
|
rs2149087828
|
|
|
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
|
|
|
|
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
|
|
|
|
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=)
|
rs2077719509
|
|
|
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
|
|
|
|
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=)
|
rs2149087866
|
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
|
|
|
|
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
|
|
|
|
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
|
rs2077719880
|
|
|
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
|
|
|
|
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
|
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
|
|
|
|
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=)
|
rs2149087893
|
|
|
NM_000052.7(ATP7A):c.150T>A (p.Ile50=)
|
rs2149082532
|
|
|
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
|
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
|
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=)
|
rs1557232820
|
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
|
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1543+15A>G
|
|
|
|
NM_000052.7(ATP7A):c.1543+17G>A
|
rs2149087916
|
|
|
NM_000052.7(ATP7A):c.1543+18C>T
|
|
|
|
NM_000052.7(ATP7A):c.1543+8A>C
|
|
|
|
NM_000052.7(ATP7A):c.1544-16T>G
|
|
|
|
NM_000052.7(ATP7A):c.1544-2A>T
|
rs2077751404
|
|
|
NM_000052.7(ATP7A):c.1544-7C>T
|
rs2149090207
|
|
|
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
|
|
|
|
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=)
|
rs2149090230
|
|
|
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
|
|
|
|
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=)
|
rs2149090234
|
|
|
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met)
|
rs782048861
|
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
|
NM_000052.7(ATP7A):c.159C>T (p.Asp53=)
|
rs2149082542
|
|
|
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
|
|
|
|
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
|
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)
|
rs1557233382
|
|
|
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
|
|
|
|
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
|
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
|
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
|
|
|
|
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
|
|
|
|
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=)
|
rs2149090265
|
|
|
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
|
|
|
|
NM_000052.7(ATP7A):c.166C>T (p.Leu56=)
|
rs2149082544
|
|
|
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr)
|
rs1603383823
|
|
|
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln)
|
rs2077752247
|
|
|
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
|
|
|
|
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val)
|
rs782561107
|
|
|
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1695T>C (p.Val565=)
|
rs2149090293
|
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=)
|
rs2149090295
|
|
|
NM_000052.7(ATP7A):c.1707+12T>G
|
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
|
NM_000052.7(ATP7A):c.1707+17G>A
|
|
|
|
NM_000052.7(ATP7A):c.1707+19G>A
|
|
|
|
NM_000052.7(ATP7A):c.1707+9G>C
|
rs2149090300
|
|
|
NM_000052.7(ATP7A):c.1708-16G>A
|
|
|
|
NM_000052.7(ATP7A):c.1708-19A>G
|
|
|
|
NM_000052.7(ATP7A):c.1708-5A>C
|
rs782104249
|
|
|
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)
|
rs782076879
|
|
|
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe)
|
rs2149093499
|
|
|
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=)
|
rs2149093501
|
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
|
rs2077799245
|
|
|
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
|
|
|
|
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
|
rs1603384813
|
|
|
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
|
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
|
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=)
|
rs2149093521
|
|
|
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val)
|
rs2149093524
|
|
|
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=)
|
rs1557234093
|
|
|
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
|
|
|
|
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
|
|
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
|
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val)
|
rs782386693
|
|
|
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val)
|
rs2149093539
|
|
|
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
|
rs2077547692
|
|
|
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
|
|
|
|
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
|
|
|
|
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
|
|
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
|
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)
|
rs1020034878
|
|
|
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
|
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
|
rs1399879043
|
|
|
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1869+12G>T
|
|
|
|
NM_000052.7(ATP7A):c.1869+17del
|
|
|
|
NM_000052.7(ATP7A):c.1869+4A>G
|
|
|
|
NM_000052.7(ATP7A):c.1869+7G>A
|
rs2149093596
|
|
|
NM_000052.7(ATP7A):c.1869+7G>T
|
rs2149093596
|
|
|
NM_000052.7(ATP7A):c.1869+9C>G
|
rs2149093599
|
|
|
NM_000052.7(ATP7A):c.186A>G (p.Leu62=)
|
rs2149082562
|
|
|
NM_000052.7(ATP7A):c.1870-14A>G
|
|
|
|
NM_000052.7(ATP7A):c.1870-18T>C
|
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
|
NM_000052.7(ATP7A):c.1870-7T>G
|
|
|
|
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=)
|
rs2149094927
|
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
|
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1896C>G (p.Val632=)
|
rs2149094955
|
|
|
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu)
|
rs2149094957
|
|
|
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
|
|
|
|
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
|
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
|
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
|
|
|
|
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
|
|
|
|
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1920C>T (p.His640=)
|
rs2149094980
|
|
|
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
|
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
|
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
|
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
|
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
|
rs2077822914
|
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1945_1946+2dup
|
rs2077822992
|
|
|
NM_000052.7(ATP7A):c.1946+10T>G
|
rs2149095008
|
|
|
NM_000052.7(ATP7A):c.1946+12G>A
|
|
|
|
NM_000052.7(ATP7A):c.1946+12G>C
|
|
|
|
NM_000052.7(ATP7A):c.1946+15G>C
|
|
|
|
NM_000052.7(ATP7A):c.1946+16T>G
|
|
|
|
NM_000052.7(ATP7A):c.1947-15T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-16A>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-16_1947-14del
|
rs2077824641
|
|
|
NM_000052.7(ATP7A):c.1947-16del
|
rs2149095131
|
|
|
NM_000052.7(ATP7A):c.1947-17T>A
|
|
|
|
NM_000052.7(ATP7A):c.1947-18T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-19T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-7A>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-9C>T
|
rs2077824790
|
|
|
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=)
|
rs2077825077
|
|
|
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
|
|
|
|
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
|
|
|
|
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
|
|
|
|
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=)
|
rs2077825500
|
|
|
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=)
|
rs2077825500
|
|
|
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=)
|
rs2149095200
|
|
|
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
|
rs1569549885
|
|
|
NM_000052.7(ATP7A):c.2028C>T (p.His676=)
|
rs2149095212
|
|
|
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=)
|
rs2077825942
|
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
|
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
|
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=)
|
rs2149095237
|
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
|
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
|
|
|
|
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
|
rs2077826335
|
|
|
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=)
|
rs2077826356
|
|
|
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
|
|
|
|
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
|
|
|
|
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
|
|
|
|
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
|
|
|
|
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
|
|
|
|
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=)
|
rs2077826844
|
|
|
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=)
|
rs2149095287
|
|
|
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu)
|
rs1557234537
|
|
|
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr)
|
rs2077650482
|
|
|
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
|
|
|
|
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
|
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=)
|
rs797045346
|
|
|
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
|
|
|
|
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2172+12G>C
|
rs1557234548
|
|
|
NM_000052.7(ATP7A):c.2172+13T>C
|
|
|
|
NM_000052.7(ATP7A):c.2172+2C>T
|
rs2077827112
|
|
|
NM_000052.7(ATP7A):c.2172+5G>A
|
rs797045347
|
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
|
NM_000052.7(ATP7A):c.2172+8A>C
|
rs2149095311
|
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
|
NM_000052.7(ATP7A):c.2173-15A>T
|
|
|
|
NM_000052.7(ATP7A):c.2173-4G>T
|
|
|
|
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
|
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
|
rs2077837052
|
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
|
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
|
|
|
|
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
|
|
|
|
NM_000052.7(ATP7A):c.21G>C (p.Val7=)
|
rs2149073808
|
|
|
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
|
|
|
|
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His)
|
rs2149095977
|
|
|
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
|
|
|
|
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe)
|
rs1569549929
|
|
|
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=)
|
rs1557234725
|
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
|
|
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
|
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
|
|
|
|
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2244A>G (p.Val748=)
|
rs2149095993
|
|
|
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
|
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
|
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
|
|
|
|
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
|
|
|
|
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=)
|
rs2149096003
|
|
|
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=)
|
rs1473914623
|
|
|
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
|
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
|
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=)
|
rs2149096036
|
|
|
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=)
|
rs2149096038
|
|
|
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu)
|
rs2077838145
|
|
|
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
|
|
|
|
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
|
|
|
|
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
|
|
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
|
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
|
|
|
|
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=)
|
rs2149096056
|
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=)
|
rs2149096057
|
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
|
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
|
|
|
|
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met)
|
rs2077838404
|
|
|
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=)
|
rs1208805004
|
|
|
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
|
|
|
|
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=)
|
rs1603385697
|
|
|
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2406+12A>C
|
|
|
|
NM_000052.7(ATP7A):c.2406+14G>A
|
|
|
|
NM_000052.7(ATP7A):c.2406+14G>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+16G>A
|
|
|
|
NM_000052.7(ATP7A):c.2406+16G>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+16_2406+18del
|
rs782017566
|
|
|
NM_000052.7(ATP7A):c.2406+19A>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
|
NM_000052.7(ATP7A):c.2407-19T>A
|
|
|
|
NM_000052.7(ATP7A):c.2407-19TGTT[3]
|
|
|
|
NM_000052.7(ATP7A):c.2407-4A>G
|
rs2149096806
|
|
|
NM_000052.7(ATP7A):c.2407-4A>T
|
rs2149096806
|
|
|
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
|
|
|
|
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
|
|
|
|
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=)
|
rs782694822
|
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
|
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val)
|
rs781879594
|
|
|
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=)
|
rs2149096833
|
|
|
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
|
|
|
|
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)
|
rs1557234938
|
|
|
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
|
|
|
|
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=)
|
rs2149096836
|
|
|
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=)
|
rs2149096842
|
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
|
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
|
|
|
|
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
|
|
|
|
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
|
|
|
|
NM_000052.7(ATP7A):c.2498+16C>G
|
|
|
|
NM_000052.7(ATP7A):c.2498+18T>C
|
|
|
|
NM_000052.7(ATP7A):c.2498+2T>G
|
rs797045357
|
|
|
NM_000052.7(ATP7A):c.2498+3A>T
|
rs1603386005
|
|
|
NM_000052.7(ATP7A):c.2499-10T>C
|
rs2149097330
|
|
|
NM_000052.7(ATP7A):c.2499-11C>A
|
|
|
|
NM_000052.7(ATP7A):c.2499-12A>T
|
rs2149097328
|
|
|
NM_000052.7(ATP7A):c.2499-18A>G
|
|
|
|
NM_000052.7(ATP7A):c.2499-20T>C
|
|
|
|
NM_000052.7(ATP7A):c.2499-3C>T
|
rs2077858280
|
|
|
NM_000052.7(ATP7A):c.2499-7T>A
|
|
|
|
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
|
rs1603386154
|
|
|
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
|
|
|
|
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
|
|
|
|
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
|
|
|
|
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
|
|
|
|
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly)
|
rs2149082599
|
|
|
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=)
|
rs2149097387
|
|
|
NM_000052.7(ATP7A):c.2586T>G (p.Val862=)
|
rs2149097395
|
|
|
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr)
|
rs2149097408
|
|
|
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)
|
rs782769542
|
|
|
NM_000052.7(ATP7A):c.261C>G (p.Thr87=)
|
rs2149082604
|
|
|
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2626+11T>G
|
rs2077859760
|
|
|
NM_000052.7(ATP7A):c.2626+12C>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+13A>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+16G>A
|
rs2149097436
|
|
|
NM_000052.7(ATP7A):c.2626+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.2626+18A>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+5G>T
|
rs2149097418
|
|
|
NM_000052.7(ATP7A):c.2626+8C>T
|
rs2149097424
|
|
|
NM_000052.7(ATP7A):c.2627-13A>T
|
|
|
|
NM_000052.7(ATP7A):c.2627-16T>G
|
|
|
|
NM_000052.7(ATP7A):c.2627-19A>G
|
|
|
|
NM_000052.7(ATP7A):c.2627-19A>T
|
|
|
|
NM_000052.7(ATP7A):c.2627-7C>T
|
rs1603386991
|
|
|
NM_000052.7(ATP7A):c.2627-8C>G
|
|
|
|
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
|
|
|
|
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
|
|
|
|
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
|
|
|
|
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=)
|
rs781976106
|
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
|
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=)
|
rs2149099638
|
|
|
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
|
|
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
|
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
|
|
|
|
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
|
|
|
|
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=)
|
rs2149099672
|
|
|
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=)
|
rs2149099676
|
|
|
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
|
|
|
|
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=)
|
rs1396353749
|
|
|
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=)
|
rs1193758510
|
|
|
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
|
|
|
|
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=)
|
rs2149099708
|
|
|
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
|
|
|
|
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln)
|
rs2149099719
|
|
|
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2773_2781+4del
|
|
|
|
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=)
|
rs1603387045
|
|
|
NM_000052.7(ATP7A):c.2781+14C>T
|
|
|
|
NM_000052.7(ATP7A):c.2781+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.2781+5C>T
|
|
|
|
NM_000052.7(ATP7A):c.2781+8A>T
|
rs2149099742
|
|
|
NM_000052.7(ATP7A):c.2782-11T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-13T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-14A>G
|
|
|
|
NM_000052.7(ATP7A):c.2782-14del
|
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
|
NM_000052.7(ATP7A):c.2782-4C>T
|
|
|
|
NM_000052.7(ATP7A):c.2782-6T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-8A>C
|
rs2149100096
|
|
|
NM_000052.7(ATP7A):c.2782-9T>C
|
|
|
|
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
|
|
|
|
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=)
|
rs2149100114
|
|
|
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
|
|
|
|
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=)
|
rs2149100126
|
|
|
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
|
|
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
|
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
|
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
|
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile)
|
rs2077902319
|
|
|
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr)
|
rs1557235719
|
|
|
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
|
|
|
|
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
|
|
|
|
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
|
|
|
|
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
|
|
|
|
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
|
|
|
|
NM_000052.7(ATP7A):c.2916+11T>G
|
|
|
|
NM_000052.7(ATP7A):c.2916+19C>T
|
|
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
|
NM_000052.7(ATP7A):c.2917-13C>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-14C>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-15G>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.2917-19T>G
|
|
|
|
NM_000052.7(ATP7A):c.2917-6C>T
|
|
|
|
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
|
|
|
|
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=)
|
rs1557236690
|
|
|
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=)
|
rs72554649
|
|
|
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
|
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=)
|
rs782757659
|
|
|
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
|
|
|
|
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=)
|
rs782757659
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
|
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=)
|
rs2077967350
|
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
|
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
|
|
|
|
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly)
|
rs2077967548
|
|
|
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
|
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
|
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=)
|
rs2077967684
|
|
|
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=)
|
rs2149104881
|
|
|
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
|
|
|
|
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
|
|
|
|
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser)
|
rs782480109
|
|
|
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val)
|
rs1557236745
|
|
|
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=)
|
rs2149104907
|
|
|
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu)
|
rs1557236747
|
|
|
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
|
|
|
|
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=)
|
rs2149104924
|
|
|
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=)
|
rs2149104926
|
|
|
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser)
|
rs2077968146
|
|
|
NM_000052.7(ATP7A):c.305A>G (p.His102Arg)
|
rs1253495703
|
|
|
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
|
|
|
|
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
|
|
|
|
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
|
|
|
|
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=)
|
rs2149104947
|
|
|
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3111+10T>C
|
|
|
|
NM_000052.7(ATP7A):c.3111+10T>G
|
|
|
|
NM_000052.7(ATP7A):c.3111+11C>A
|
|
|
|
NM_000052.7(ATP7A):c.3111+13C>G
|
|
|
|
NM_000052.7(ATP7A):c.3111+18A>T
|
rs2149104971
|
|
|
NM_000052.7(ATP7A):c.3111+19C>T
|
|
|
|
NM_000052.7(ATP7A):c.3111+6A>G
|
rs2077968712
|
|
|
NM_000052.7(ATP7A):c.3111+7C>T
|
|
|
|
NM_000052.7(ATP7A):c.3111+8A>G
|
|
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
|
NM_000052.7(ATP7A):c.3112-15_3112-14dup
|
rs2077982901
|
|
|
NM_000052.7(ATP7A):c.3112-16C>G
|
rs2149106076
|
|
|
NM_000052.7(ATP7A):c.3112-18A>G
|
|
|
|
NM_000052.7(ATP7A):c.3112-5T>C
|
rs2149106085
|
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
|
|
|
|
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala)
|
rs2077983152
|
|
|
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
|
|
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
|
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
|
|
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
|
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
|
|
|
|
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=)
|
rs371089220
|
|
|
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
|
|
|
|
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg)
|
rs2077983527
|
|
|
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
|
|
|
|
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=)
|
rs2149106139
|
|
|
NM_000052.7(ATP7A):c.319T>C (p.Leu107=)
|
rs2149082638
|
|
|
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser)
|
rs2149106147
|
|
|
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
|
|
|
|
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=)
|
rs2149106153
|
|
|
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
|
rs1603389390
|
|
|
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
|
|
|
|
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
|
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
|
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=)
|
rs2149106168
|
|
|
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=)
|
rs2149106169
|
|
|
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
|
|
|
|
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile)
|
rs2149106178
|
|
|
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)
|
rs996808810
|
|
|
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)
|
rs1557237081
|
|
|
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
|
NM_000052.7(ATP7A):c.3294+14C>T
|
|
|
|
NM_000052.7(ATP7A):c.3294+15dup
|
|
|
|
NM_000052.7(ATP7A):c.3294+16C>T
|
|
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
|
NM_000052.7(ATP7A):c.3294+7T>G
|
|
|
|
NM_000052.7(ATP7A):c.3295-11_3295-10del
|
|
|
|
NM_000052.7(ATP7A):c.3295-14T>C
|
|
|
|
NM_000052.7(ATP7A):c.3295-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.3295-5G>T
|
rs2149107138
|
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
|
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
|
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
|
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
|
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
|
|
|
|
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser)
|
rs2149107164
|
|
|
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
|
|
|
|
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)
|
rs2149107179
|
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
|
|
|
|
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe)
|
rs2077995918
|
|
|
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr)
|
rs2077996076
|
|
|
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
|
|
|
|
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn)
|
rs2149107203
|
|
|
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His)
|
rs2149107206
|
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
|
|
|
|
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
|
|
|
|
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
|
|
|
|
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
|
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=)
|
rs2149107223
|
|
|
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
|
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
|
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)
|
rs1557237452
|
|
|
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
|
|
|
|
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
|
|
|
|
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=)
|
rs2077996988
|
|
|
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
|
|
|
|
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
|
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
|
NM_000052.7(ATP7A):c.3511+9A>C
|
|
|
|
NM_000052.7(ATP7A):c.3511+9A>T
|
rs2149107266
|
|
|
NM_000052.7(ATP7A):c.3512-14G>A
|
|
|
|
NM_000052.7(ATP7A):c.3512-16C>T
|
|
|
|
NM_000052.7(ATP7A):c.3512-6T>C
|
rs2078029932
|
|
|
NM_000052.7(ATP7A):c.3512-7C>T
|
|
|
|
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
|
|
|
|
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
|
|
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
|
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
|
|
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
|
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
|
|
|
|
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
|
|
|
|
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
|
|
|
|
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr)
|
rs782588862
|
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
|
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
|
|
|
|
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
|
|
|
|
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
|
|
|
|
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
|
|
|
|
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser)
|
rs2078030949
|
|
|
NM_000052.7(ATP7A):c.360T>A (p.Pro120=)
|
rs1557231616
|
|
|
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
|
|
|
|
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
|
|
|
|
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
|
|
|
|
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
|
|
|
|
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3658+17G>T
|
|
|
|
NM_000052.7(ATP7A):c.3658+19A>G
|
|
|
|
NM_000052.7(ATP7A):c.3658+4A>T
|
|
|
|
NM_000052.7(ATP7A):c.3659-7A>G
|
|
|
|
NM_000052.7(ATP7A):c.3659-9C>T
|
|
|
|
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
|
|
|
|
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=)
|
rs2149110480
|
|
|
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys)
|
rs2149110482
|
|
|
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
|
|
|
|
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
|
|
|
|
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
|
rs1603390828
|
|
|
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
|
|
|
|
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
|
|
|
|
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
|
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
|
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
|
|
|
|
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=)
|
rs2149110492
|
|
|
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
|
|
|
|
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
|
|
|
|
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
|
|
|
|
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser)
|
rs2078041778
|
|
|
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
|
rs1557238272
|
|
|
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
|
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr)
|
rs2078042001
|
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
|
NM_000052.7(ATP7A):c.3801+11G>A
|
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
|
NM_000052.7(ATP7A):c.3801+17T>C
|
|
|
|
NM_000052.7(ATP7A):c.3801+20G>A
|
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
|
NM_000052.7(ATP7A):c.3802-15A>G
|
|
|
|
NM_000052.7(ATP7A):c.3802-6A>G
|
rs2149111706
|
|
|
NM_000052.7(ATP7A):c.3802-6A>T
|
rs2149111706
|
|
|
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=)
|
rs2149111712
|
|
|
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile)
|
rs932523090
|
|
|
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=)
|
rs2149111740
|
|
|
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
|
|
|
|
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
|
|
|
|
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=)
|
rs1043267619
|
|
|
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=)
|
rs2149111751
|
|
|
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
|
|
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
|
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
|
|
|
|
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
|
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
|
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
|
|
|
|
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
|
|
|
|
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
|
|
|
|
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
|
|
|
|
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=)
|
rs2149111823
|
|
|
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
|
|
|
|
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
|
|
|
|
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
|
|
|
|
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
|
|
|
|
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
|
|
|
|
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)
|
rs369114635
|
|
|
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile)
|
rs782692001
|
|
|
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
|
|
|
|
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
|
|
|
|
NM_000052.7(ATP7A):c.39T>C (p.Ser13=)
|
rs986987107
|
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
|
NM_000052.7(ATP7A):c.4005+13G>T
|
|
|
|
NM_000052.7(ATP7A):c.4005+16T>A
|
|
|
|
NM_000052.7(ATP7A):c.4005+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
|
NM_000052.7(ATP7A):c.4005+5G>A
|
|
|
|
NM_000052.7(ATP7A):c.4006-10C>G
|
|
|
|
NM_000052.7(ATP7A):c.4006-13T>C
|
|
|
|
NM_000052.7(ATP7A):c.4006-1G>A
|
rs1557238665
|
|
|
NM_000052.7(ATP7A):c.4006-4T>C
|
|
|
|
NM_000052.7(ATP7A):c.4006-7T>A
|
|
|
|
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
|
|
|
|
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu)
|
rs371441365
|
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
|
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
|
|
|
|
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=)
|
rs2078061918
|
|
|
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
|
|
|
|
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala)
|
rs2149112223
|
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
|
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
|
|
|
|
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu)
|
rs375819425
|
|
|
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=)
|
rs375819425
|
|
|
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr)
|
rs2149112238
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
|
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
|
|
|
|
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
|
|
|
|
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
|
rs2078062220
|
|
|
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=)
|
rs1603391261
|
|
|
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
|
rs1603391261
|
|
|
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=)
|
rs2078062354
|
|
|
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
|
|
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
|
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
|
|
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
|
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser)
|
rs2149082684
|
|
|
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
|
|
|
|
NM_000052.7(ATP7A):c.4123+12T>A
|
|
|
|
NM_000052.7(ATP7A):c.4123+17T>C
|
|
|
|
NM_000052.7(ATP7A):c.4123+17T>G
|
|
|
|
NM_000052.7(ATP7A):c.4124-13A>G
|
|
|
|
NM_000052.7(ATP7A):c.4124-16C>T
|
|
|
|
NM_000052.7(ATP7A):c.4124-17C>A
|
|
|
|
NM_000052.7(ATP7A):c.4124-3T>C
|
|
|
|
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
|
|
|
|
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=)
|
rs2149113522
|
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
|
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
|
|
|
|
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile)
|
rs2149113528
|
|
|
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
|
|
|
|
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=)
|
rs2149113538
|
|
|
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=)
|
rs2149113545
|
|
|
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
|
|
|
|
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala)
|
rs2149113564
|
|
|
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
|
|
|
|
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile)
|
rs2149113574
|
|
|
NM_000052.7(ATP7A):c.4226+12A>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+18C>A
|
|
|
|
NM_000052.7(ATP7A):c.4226+20C>T
|
|
|
|
NM_000052.7(ATP7A):c.4226+6T>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+7A>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+9G>A
|
rs1557239012
|
|
|
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
|
|
|
|
NM_000052.7(ATP7A):c.4227-10A>G
|
|
|
|
NM_000052.7(ATP7A):c.4227-11C>T
|
rs2149113924
|
|
|
NM_000052.7(ATP7A):c.4227-12G>C
|
|
|
|
NM_000052.7(ATP7A):c.4227-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.4227-17C>T
|
|
|
|
NM_000052.7(ATP7A):c.4227-18del
|
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
|
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
|
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
|
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly)
|
rs2149113944
|
|
|
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=)
|
rs2078083306
|
|
|
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
|
|
|
|
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
|
|
|
|
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=)
|
rs2149113967
|
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly)
|
rs2149113979
|
|
|
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=)
|
rs2149113981
|
|
|
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly)
|
rs2149113992
|
|
|
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
|
|
|
|
NM_000052.7(ATP7A):c.429T>G (p.Val143=)
|
rs2149082691
|
|
|
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu)
|
rs2149113995
|
|
|
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=)
|
rs2149114009
|
|
|
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=)
|
rs2149114035
|
|
|
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=)
|
rs2149114038
|
|
|
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=)
|
rs2149114044
|
|
|
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
|
|
|
|
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu)
|
rs147848649
|
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
|
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
|
|
|
|
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
|
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg)
|
rs1557239147
|
|
|
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr)
|
rs2149114118
|
|
|
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
|
|
|
|
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=)
|
rs1603391708
|
|
|
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
|
|
|
|
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu)
|
rs2149114133
|
|
|
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly)
|
rs1557239152
|
|
|
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
|
|
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
|
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
|
|
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
|
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met)
|
rs2149082707
|
|
|
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
|
|
|
|
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
|
|
|
|
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.48T>G (p.Gly16=)
|
rs2149073819
|
|
|
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
|
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
|
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
|
|
|
|
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
|
|
|
|
NM_000052.7(ATP7A):c.528A>G (p.Lys176=)
|
rs2149082749
|
|
|
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
|
|
|
|
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
|
|
|
|
NM_000052.7(ATP7A):c.534A>G (p.Glu178=)
|
rs2077652554
|
|
|
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
|
|
|
|
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
|
|
|
|
NM_000052.7(ATP7A):c.552A>G (p.Ser184=)
|
rs1557231655
|
|
|
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
|
|
|
|
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
|
|
|
|
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala)
|
rs1557231656
|
|
|
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
|
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
|
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.57C>T (p.Cys19=)
|
rs145406974
|
|
|
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
|
|
|
|
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
|
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
|
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln)
|
rs897502448
|
|
|
NM_000052.7(ATP7A):c.610+10C>T
|
|
|
|
NM_000052.7(ATP7A):c.610+13G>A
|
|
|
|
NM_000052.7(ATP7A):c.610+15G>T
|
|
|
|
NM_000052.7(ATP7A):c.610+18G>T
|
|
|
|
NM_000052.7(ATP7A):c.610+19A>C
|
|
|
|
NM_000052.7(ATP7A):c.610+20T>C
|
|
|
|
NM_000052.7(ATP7A):c.610+2T>C
|
|
|
|
NM_000052.7(ATP7A):c.611-10T>C
|
rs2149083014
|
|
|
NM_000052.7(ATP7A):c.611-16del
|
|
|
|
NM_000052.7(ATP7A):c.611-20T>C
|
|
|
|
NM_000052.7(ATP7A):c.611-21_611-17del
|
rs1350377636
|
|
|
NM_000052.7(ATP7A):c.611-5A>G
|
rs1557231730
|
|
|
NM_000052.7(ATP7A):c.611-6A>G
|
|
|
|
NM_000052.7(ATP7A):c.612C>T (p.Val204=)
|
rs2077655830
|
|
|
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
|
|
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
|
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
|
|
|
|
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
|
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
|
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr)
|
rs2149083046
|
|
|
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
|
rs2077548143
|
|
|
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
|
|
|
|
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
|
|
|
|
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
|
|
|
|
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
|
|
|
|
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
|
rs1557231750
|
|
|
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
|
|
|
|
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
|
|
|
|
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr)
|
rs2149083058
|
|
|
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
|
|
|
|
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
|
|
|
|
NM_000052.7(ATP7A):c.714C>A (p.Val238=)
|
rs2149083069
|
|
|
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
|
|
|
|
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
|
|
|
|
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
|
|
|
|
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr)
|
rs184646064
|
|
|
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
|
|
|
|
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
|
|
|
|
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
|
|
|
|
NM_000052.7(ATP7A):c.753T>C (p.Asp251=)
|
rs2149083096
|
|
|
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
|
|
|
|
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
|
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
|
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
|
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
|
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
|
|
|
|
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
|
rs2077656822
|
|
|
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
|
|
|
|
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
|
|
|
|
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
|
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
|
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser)
|
rs868946047
|
|
|
NM_000052.7(ATP7A):c.816A>G (p.Ser272=)
|
rs2149083124
|
|
|
NM_000052.7(ATP7A):c.81G>A (p.Glu27=)
|
rs2149073851
|
|
|
NM_000052.7(ATP7A):c.822C>T (p.Thr274=)
|
rs2149083127
|
|
|
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
|
|
|
|
NM_000052.7(ATP7A):c.828T>C (p.Asp276=)
|
rs2077656976
|
|
|
NM_000052.7(ATP7A):c.831A>T (p.Ser277=)
|
rs2149083138
|
|
|
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
|
|
|
|
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
|
|
|
|
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
|
|
|
|
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
|
|
|
|
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
|
|
|
|
NM_000052.7(ATP7A):c.84G>A (p.Gln28=)
|
rs1603378828
|
|
|
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
|
|
|
|
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
|
|
|
|
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
|
|
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
|
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
|
|
|
|
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
|
|
|
|
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
|
|
|
|
NM_000052.7(ATP7A):c.903A>C (p.Ala301=)
|
rs1557231803
|
|
|
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
|
|
|
|
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met)
|
rs2149073867
|
|
|
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
|
|
|
|
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
|
|
|
|
NM_000052.7(ATP7A):c.927A>G (p.Val309=)
|
rs2149083187
|
|
|
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
|
rs1569549378
|
|
|
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
|
|
|
|
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser)
|
rs1064797375
|
|
|
NM_000052.7(ATP7A):c.942T>C (p.Asn314=)
|
rs2149083195
|
|
|
NM_000052.7(ATP7A):c.945G>A (p.Arg315=)
|
rs2149083198
|
|
|
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser)
|
rs2149083198
|
|
|
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
|
rs2077548318
|
|
|
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
|
|
|
|
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
|
|
|
|
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr)
|
rs2149083223
|
|
|
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
|
|
|
|
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys)
|
rs104894774
|
|
|
NM_000074.3(CD40LG):c.107T>C (p.Met36Thr)
|
rs104894774
|
|
|
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg)
|
rs104894774
|
|
|
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile)
|
rs2076095000
|
|
|
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
|
|
|
|
NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro)
|
rs2148550578
|
|
|
NM_000074.3(CD40LG):c.133del (p.Tyr45fs)
|
rs2076095044
|
|
|
NM_000074.3(CD40LG):c.137T>G (p.Leu46Arg)
|
|
|
|
NM_000074.3(CD40LG):c.138del (p.His47fs)
|
|
|
|
NM_000074.3(CD40LG):c.156+12C>T
|
|
|
|
NM_000074.3(CD40LG):c.156+18C>T
|
|
|
|
NM_000074.3(CD40LG):c.156+1G>A
|
|
|
|
NM_000074.3(CD40LG):c.156+2T>C
|
rs2148550585
|
|
|
NM_000074.3(CD40LG):c.156+4A>G
|
rs2148550590
|
|
|
NM_000074.3(CD40LG):c.156+7T>A
|
|
|
|
NM_000074.3(CD40LG):c.157-15G>C
|
|
|
|
NM_000074.3(CD40LG):c.157-16T>C
|
|
|
|
NM_000074.3(CD40LG):c.157-19C>T
|
|
|
|
NM_000074.3(CD40LG):c.158_161del
|
|
|
|
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter)
|
rs2148550523
|
|
|
NM_000074.3(CD40LG):c.165T>C (p.Asp55=)
|
|
|
|
NM_000074.3(CD40LG):c.180T>C (p.His60=)
|
|
|
|
NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)
|
|
|
|
NM_000074.3(CD40LG):c.203C>T (p.Thr68Met)
|
rs2148551094
|
|
|
NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu)
|
rs2148551102
|
|
|
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
|
|
|
|
NM_000074.3(CD40LG):c.222A>G (p.Thr74=)
|
|
|
|
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro)
|
rs200672738
|
|
|
NM_000074.3(CD40LG):c.237A>G (p.Leu79=)
|
|
|
|
NM_000074.3(CD40LG):c.249C>T (p.Asn83=)
|
|
|
|
NM_000074.3(CD40LG):c.264A>G (p.Lys88=)
|
|
|
|
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
|
|
|
|
NM_000074.3(CD40LG):c.270G>A (p.Gln90=)
|
|
|
|
NM_000074.3(CD40LG):c.270G>C (p.Gln90His)
|
|
|
|
NM_000074.3(CD40LG):c.288+20del
|
rs758537361
|
|
|
NM_000074.3(CD40LG):c.289-14G>C
|
rs2148552371
|
|
|
NM_000074.3(CD40LG):c.289-14G>T
|
|
|
|
NM_000074.3(CD40LG):c.289-17A>G
|
|
|
|
NM_000074.3(CD40LG):c.289-18C>A
|
rs1186292119
|
|
|
NM_000074.3(CD40LG):c.289-18C>T
|
rs1186292119
|
|
|
NM_000074.3(CD40LG):c.289-19G>A
|
|
|
|
NM_000074.3(CD40LG):c.289-19G>T
|
rs2148552369
|
|
|
NM_000074.3(CD40LG):c.289-1G>A
|
rs2148552379
|
|
|
NM_000074.3(CD40LG):c.289-27G>T
|
|
|
|
NM_000074.3(CD40LG):c.289-7A>G
|
|
|
|
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
|
|
|
|
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs)
|
rs1569376925
|
|
|
NM_000074.3(CD40LG):c.312G>A (p.Glu104=)
|
rs1305903200
|
|
|
NM_000074.3(CD40LG):c.314C>A (p.Thr105Lys)
|
|
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
|
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs)
|
rs1569376930
|
|
|
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
|
|
|
|
NM_000074.3(CD40LG):c.346+12A>G
|
|
|
|
NM_000074.3(CD40LG):c.346+14T>A
|
|
|
|
NM_000074.3(CD40LG):c.346+16G>T
|
|
|
|
NM_000074.3(CD40LG):c.346+17C>T
|
|
|
|
NM_000074.3(CD40LG):c.346+1G>A
|
rs2148552407
|
|
|
NM_000074.3(CD40LG):c.346+1G>T
|
|
|
|
NM_000074.3(CD40LG):c.346+5G>A
|
rs2148552412
|
|
|
NM_000074.3(CD40LG):c.346+5_346+11dup
|
|
|
|
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys)
|
rs2148552406
|
|
|
NM_000074.3(CD40LG):c.347-14T>C
|
|
|
|
NM_000074.3(CD40LG):c.347-18T>A
|
|
|
|
NM_000074.3(CD40LG):c.347-18T>C
|
|
|
|
NM_000074.3(CD40LG):c.347-6T>A
|
|
|
|
NM_000074.3(CD40LG):c.347-915A>T
|
|
|
|
NM_000074.3(CD40LG):c.347G>A (p.Gly116Asp)
|
rs2148552902
|
|
|
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu)
|
rs104894778
|
|
|
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr)
|
rs1603321148
|
|
|
NM_000074.3(CD40LG):c.375T>C (p.His125=)
|
|
|
|
NM_000074.3(CD40LG):c.376G>T (p.Val126Phe)
|
rs2148552915
|
|
|
NM_000074.3(CD40LG):c.384T>C (p.Ser128=)
|
rs104894773
|
|
|
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter)
|
rs1215852570
|
|
|
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
|
rs2076119100
|
|
|
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
|
|
|
|
NM_000074.3(CD40LG):c.38C>A (p.Ala13Glu)
|
|
|
|
NM_000074.3(CD40LG):c.400ACA[1] (p.Thr135del)
|
rs1490893550
|
|
|
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
|
rs2076119189
|
|
|
NM_000074.3(CD40LG):c.409+1G>C
|
rs2148552941
|
|
|
NM_000074.3(CD40LG):c.409+2T>C
|
|
|
|
NM_000074.3(CD40LG):c.410-15C>G
|
|
|
|
NM_000074.3(CD40LG):c.410-3_410-2del
|
rs1603321716
|
|
|
NM_000074.3(CD40LG):c.410-5A>G
|
|
|
|
NM_000074.3(CD40LG):c.410-7G>A
|
|
|
|
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
|
|
|
|
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn)
|
rs1569377744
|
|
|
NM_000074.3(CD40LG):c.430G>A (p.Gly144Arg)
|
rs2076126859
|
|
|
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu)
|
rs886039326
|
|
|
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
|
|
|
|
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn)
|
rs762639528
|
|
|
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
|
|
|
|
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
|
|
|
|
NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn)
|
rs1057521127
|
|
|
NM_000074.3(CD40LG):c.470A>C (p.Asn157Thr)
|
|
|
|
NM_000074.3(CD40LG):c.470del (p.Asn157fs)
|
rs2148553684
|
|
|
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
|
rs2076126996
|
|
|
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter)
|
rs767889061
|
|
|
NM_000074.3(CD40LG):c.479A>C (p.Gln160Pro)
|
|
|
|
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
|
|
|
|
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val)
|
rs1359082888
|
|
|
NM_000074.3(CD40LG):c.500G>T (p.Gly167Val)
|
|
|
|
NM_000074.3(CD40LG):c.504C>T (p.Leu168=)
|
|
|
|
NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del)
|
rs1603321765
|
|
|
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
|
rs2076127075
|
|
|
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
|
|
|
|
NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)
|
|
|
|
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)
|
rs2076127133
|
|
|
NM_000074.3(CD40LG):c.514T>G (p.Tyr172Asp)
|
|
|
|
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
|
|
|
|
NM_000074.3(CD40LG):c.516T>C (p.Tyr172=)
|
|
|
|
NM_000074.3(CD40LG):c.518C>T (p.Ala173Val)
|
|
|
|
NM_000074.3(CD40LG):c.519C>A (p.Ala173=)
|
|
|
|
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter)
|
rs1603321772
|
|
|
NM_000074.3(CD40LG):c.525C>T (p.Val175=)
|
|
|
|
NM_000074.3(CD40LG):c.527C>T (p.Thr176Ile)
|
|
|
|
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln)
|
rs11575982
|
|
|
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro)
|
rs11575982
|
|
|
NM_000074.3(CD40LG):c.552G>A (p.Ser184=)
|
|
|
|
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter)
|
rs2076127276
|
|
|
NM_000074.3(CD40LG):c.559del (p.Ala187fs)
|
rs1556143529
|
|
|
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
|
|
|
|
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
|
|
|
|
NM_000074.3(CD40LG):c.597T>C (p.Gly199=)
|
|
|
|
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter)
|
rs2148553738
|
|
|
NM_000074.3(CD40LG):c.603C>T (p.Phe201=)
|
|
|
|
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)
|
rs2076127596
|
|
|
NM_000074.3(CD40LG):c.60C>G (p.Ser20Arg)
|
|
|
|
NM_000074.3(CD40LG):c.618C>G (p.Leu206=)
|
|
|
|
NM_000074.3(CD40LG):c.618C>T (p.Leu206=)
|
rs2148553751
|
|
|
NM_000074.3(CD40LG):c.621A>G (p.Arg207=)
|
rs2148553754
|
|
|
NM_000074.3(CD40LG):c.633C>A (p.Thr211=)
|
|
|
|
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
|
|
|
|
NM_000074.3(CD40LG):c.643G>A (p.Ala215Thr)
|
|
|
|
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter)
|
rs1085307733
|
|
|
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter)
|
rs1603321834
|
|
|
NM_000074.3(CD40LG):c.667A>G (p.Ile223Val)
|
|
|
|
NM_000074.3(CD40LG):c.673T>C (p.Leu225=)
|
|
|
|
NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg)
|
rs1603321840
|
|
|
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser)
|
rs1569377865
|
|
|
NM_000074.3(CD40LG):c.691T>C (p.Leu231=)
|
|
|
|
NM_000074.3(CD40LG):c.692T>G (p.Leu231Trp)
|
|
|
|
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter)
|
rs2076127875
|
|
|
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)
|
|
|
|
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
|
|
|
|
NM_000074.3(CD40LG):c.708G>C (p.Ser236=)
|
|
|
|
NM_000074.3(CD40LG):c.720T>C (p.Asn240=)
|
|
|
|
NM_000074.3(CD40LG):c.73A>G (p.Met25Val)
|
rs2076094894
|
|
|
NM_000074.3(CD40LG):c.740T>C (p.Val247Ala)
|
|
|
|
NM_000074.3(CD40LG):c.747T>C (p.His249=)
|
|
|
|
NM_000074.3(CD40LG):c.750C>A (p.Gly250=)
|
|
|
|
NM_000074.3(CD40LG):c.750C>T (p.Gly250=)
|
|
|
|
NM_000074.3(CD40LG):c.753T>A (p.Thr251=)
|
|
|
|
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
|
|
|
|
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
|
|
|
|
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys)
|
rs193922136
|
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
|
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser)
|
rs1057521128
|
|
|
NM_000074.3(CD40LG):c.773T>C (p.Leu258Ser)
|
rs1569377884
|
|
|
NM_000117.2(EMD):c.-248_*326dup1339
|
|
|
|
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1]
|
rs1463296648
|
|
|
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter)
|
rs2148128122
|
|
|
NM_000117.3(EMD):c.102C>T (p.Tyr34=)
|
|
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
|
NM_000117.3(EMD):c.105G>A (p.Glu35=)
|
|
|
|
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
|
|
|
|
NM_000117.3(EMD):c.114C>A (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.114C>T (p.Ile38=)
|
rs2148128131
|
|
|
NM_000117.3(EMD):c.115_117del (p.Phe39del)
|
rs781959238
|
|
|
NM_000117.3(EMD):c.118G>C (p.Glu40Gln)
|
rs2067875036
|
|
|
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
|
|
|
|
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter)
|
rs1060502612
|
|
|
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)
|
rs782011714
|
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
|
NM_000117.3(EMD):c.136C>T (p.Arg46Trp)
|
rs2067875291
|
|
|
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
|
|
|
|
NM_000117.3(EMD):c.143dup (p.Ser49fs)
|
|
|
|
NM_000117.3(EMD):c.144C>G (p.Leu48=)
|
rs200537612
|
|
|
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
|
|
|
|
NM_000117.3(EMD):c.153C>G (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.153C>T (p.Pro51=)
|
rs782051850
|
|
|
NM_000117.3(EMD):c.153del (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.153dup (p.Ser52fs)
|
rs876661345
|
|
|
NM_000117.3(EMD):c.162C>T (p.Ser54=)
|
|
|
|
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
|
|
|
|
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)
|
rs2148128196
|
|
|
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
|
|
|
|
NM_000117.3(EMD):c.180C>G (p.Ser60Arg)
|
rs2067875771
|
|
|
NM_000117.3(EMD):c.180C>T (p.Ser60=)
|
|
|
|
NM_000117.3(EMD):c.187+11C>A
|
|
|
|
NM_000117.3(EMD):c.187+12G>C
|
|
|
|
NM_000117.3(EMD):c.187+13C>T
|
|
|
|
NM_000117.3(EMD):c.187+16G>T
|
|
|
|
NM_000117.3(EMD):c.187+18G>A
|
|
|
|
NM_000117.3(EMD):c.187+1G>A
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+1G>T
|
rs794729010
|
|
|
NM_000117.3(EMD):c.187+20G>A
|
|
|
|
NM_000117.3(EMD):c.187+2T>G
|
|
|
|
NM_000117.3(EMD):c.187+4A>T
|
rs2148128205
|
|
|
NM_000117.3(EMD):c.187+5G>C
|
|
|
|
NM_000117.3(EMD):c.187+7G>A
|
|
|
|
NM_000117.3(EMD):c.187+7G>T
|
|
|
|
NM_000117.3(EMD):c.188-12C>G
|
|
|
|
NM_000117.3(EMD):c.188-14T>C
|
|
|
|
NM_000117.3(EMD):c.188-15C>G
|
|
|
|
NM_000117.3(EMD):c.188-18C>T
|
|
|
|
NM_000117.3(EMD):c.188-20del
|
|
|
|
NM_000117.3(EMD):c.188-4C>T
|
rs1557182352
|
|
|
NM_000117.3(EMD):c.188-6A>G
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188-6A>T
|
rs2148128297
|
|
|
NM_000117.3(EMD):c.188-7A>G
|
rs2148128296
|
|
|
NM_000117.3(EMD):c.188-8C>G
|
|
|
|
NM_000117.3(EMD):c.188A>G (p.Asp63Gly)
|
rs1557182355
|
|
|
NM_000117.3(EMD):c.189C>T (p.Asp63=)
|
rs2148128303
|
|
|
NM_000117.3(EMD):c.192G>C (p.Leu64Phe)
|
rs782066603
|
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
|
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
|
|
|
|
NM_000117.3(EMD):c.207G>A (p.Gly69=)
|
rs1557182361
|
|
|
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr)
|
rs2148128314
|
|
|
NM_000117.3(EMD):c.20T>A (p.Leu7His)
|
rs794729016
|
|
|
NM_000117.3(EMD):c.217_218dup (p.Met73fs)
|
rs1557182364
|
|
|
NM_000117.3(EMD):c.218T>C (p.Met73Thr)
|
rs2148128327
|
|
|
NM_000117.3(EMD):c.229C>T (p.Pro77Ser)
|
rs1557182365
|
|
|
NM_000117.3(EMD):c.231C>G (p.Pro77=)
|
|
|
|
NM_000117.3(EMD):c.231C>T (p.Pro77=)
|
rs2148128330
|
|
|
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
|
|
|
|
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
|
|
|
|
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
|
|
|
|
NM_000117.3(EMD):c.23C>G (p.Ser8Trp)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.23C>T (p.Ser8Leu)
|
rs869025400
|
|
|
NM_000117.3(EMD):c.246T>A (p.Ala82=)
|
rs2148128347
|
|
|
NM_000117.3(EMD):c.249A>G (p.Leu83=)
|
|
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
|
NM_000117.3(EMD):c.255C>T (p.Tyr85=)
|
rs1303189631
|
|
|
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
|
|
|
|
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
|
|
|
|
NM_000117.3(EMD):c.265+10G>A
|
|
|
|
NM_000117.3(EMD):c.265+11G>T
|
|
|
|
NM_000117.3(EMD):c.265+12G>T
|
|
|
|
NM_000117.3(EMD):c.265+17G>A
|
|
|
|
NM_000117.3(EMD):c.265+7_265+8insTTTACTCTACCAGAGCA
|
|
|
|
NM_000117.3(EMD):c.265+8A>G
|
|
|
|
NM_000117.3(EMD):c.266-10C>T
|
rs2067879183
|
|
|
NM_000117.3(EMD):c.266-10_266-9del
|
|
|
|
NM_000117.3(EMD):c.266-13C>A
|
|
|
|
NM_000117.3(EMD):c.266-13C>T
|
|
|
|
NM_000117.3(EMD):c.266-19del
|
|
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
|
NM_000117.3(EMD):c.266-9C>G
|
|
|
|
NM_000117.3(EMD):c.266-9C>T
|
rs782152177
|
|
|
NM_000117.3(EMD):c.266-9dup
|
|
|
|
NM_000117.3(EMD):c.270C>T (p.Tyr90=)
|
rs2148128465
|
|
|
NM_000117.3(EMD):c.271A>G (p.Asn91Asp)
|
rs2067879275
|
|
|
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
|
|
|
|
NM_000117.3(EMD):c.285T>C (p.Tyr95=)
|
rs2148128483
|
|
|
NM_000117.3(EMD):c.294C>T (p.Ser98=)
|
rs2148128485
|
|
|
NM_000117.3(EMD):c.2T>G (p.Met1Arg)
|
rs2148127941
|
|
|
NM_000117.3(EMD):c.303C>T (p.Thr101=)
|
|
|
|
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
|
|
|
|
NM_000117.3(EMD):c.309G>A (p.Arg103=)
|
rs2148128497
|
|
|
NM_000117.3(EMD):c.30C>T (p.Thr10=)
|
|
|
|
NM_000117.3(EMD):c.311C>A (p.Thr104Asn)
|
rs1245332627
|
|
|
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)
|
rs1312994862
|
|
|
NM_000117.3(EMD):c.31G>A (p.Glu11Lys)
|
rs2148127965
|
|
|
NM_000117.3(EMD):c.321G>A (p.Glu107=)
|
rs1452250882
|
|
|
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
|
|
|
|
NM_000117.3(EMD):c.327G>A (p.Glu109=)
|
|
|
|
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
|
|
|
|
NM_000117.3(EMD):c.330T>A (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.330T>C (p.Ser110=)
|
rs782666989
|
|
|
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
|
|
|
|
NM_000117.3(EMD):c.339G>A (p.Pro113=)
|
rs2148128524
|
|
|
NM_000117.3(EMD):c.33G>A (p.Glu11=)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.33G>C (p.Glu11Asp)
|
rs782121776
|
|
|
NM_000117.3(EMD):c.343A>T (p.Arg115Trp)
|
rs2067879939
|
|
|
NM_000117.3(EMD):c.350T>G (p.Val117Gly)
|
rs781924971
|
|
|
NM_000117.3(EMD):c.351C>T (p.Val117=)
|
rs2148128529
|
|
|
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
|
|
|
|
NM_000117.3(EMD):c.369A>G (p.Ser123=)
|
rs2148128541
|
|
|
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
|
|
|
|
NM_000117.3(EMD):c.37A>C (p.Thr13Pro)
|
rs2148127968
|
|
|
NM_000117.3(EMD):c.384C>T (p.Asp128=)
|
rs1603365838
|
|
|
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
|
|
|
|
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
|
|
|
|
NM_000117.3(EMD):c.399+16G>A
|
|
|
|
NM_000117.3(EMD):c.399+18C>A
|
rs182540760
|
|
|
NM_000117.3(EMD):c.399+19G>A
|
|
|
|
NM_000117.3(EMD):c.399+19G>T
|
|
|
|
NM_000117.3(EMD):c.399+1G>T
|
rs2148128554
|
|
|
NM_000117.3(EMD):c.399+2T>C
|
|
|
|
NM_000117.3(EMD):c.399G>C (p.Gln133His)
|
|
|
|
NM_000117.3(EMD):c.39C>T (p.Thr13=)
|
rs1352660201
|
|
|
NM_000117.3(EMD):c.3G>A (p.Met1Ile)
|
rs886044771
|
|
|
NM_000117.3(EMD):c.400-11C>T
|
|
|
|
NM_000117.3(EMD):c.400-12T>A
|
|
|
|
NM_000117.3(EMD):c.400-13C>T
|
|
|
|
NM_000117.3(EMD):c.400-13CT[2]
|
rs1427015192
|
|
|
NM_000117.3(EMD):c.400-15G>A
|
|
|
|
NM_000117.3(EMD):c.400-15G>C
|
|
|
|
NM_000117.3(EMD):c.400-17C>G
|
|
|
|
NM_000117.3(EMD):c.400-3C>T
|
|
|
|
NM_000117.3(EMD):c.402G>C (p.Val134=)
|
rs2148128710
|
|
|
NM_000117.3(EMD):c.406G>A (p.Asp136Asn)
|
rs869025401
|
|
|
NM_000117.3(EMD):c.408T>C (p.Asp136=)
|
rs1569552096
|
|
|
NM_000117.3(EMD):c.411C>G (p.Asp137Glu)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.411C>T (p.Asp137=)
|
rs2148128718
|
|
|
NM_000117.3(EMD):c.413A>G (p.Asp138Gly)
|
rs1212579575
|
|
|
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
|
|
|
|
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del)
|
rs1557182551
|
|
|
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)
|
rs2067882775
|
|
|
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)
|
rs1557182560
|
|
|
NM_000117.3(EMD):c.433G>A (p.Glu145Lys)
|
rs2067882908
|
|
|
NM_000117.3(EMD):c.437A>G (p.Glu146Gly)
|
rs2148128747
|
|
|
NM_000117.3(EMD):c.438G>A (p.Glu146=)
|
|
|
|
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
|
|
|
|
NM_000117.3(EMD):c.449+10G>T
|
rs782467790
|
|
|
NM_000117.3(EMD):c.449+11G>C
|
|
|
|
NM_000117.3(EMD):c.449+17C>G
|
|
|
|
NM_000117.3(EMD):c.449+18C>A
|
|
|
|
NM_000117.3(EMD):c.449+20A>T
|
|
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
|
NM_000117.3(EMD):c.449+7A>G
|
|
|
|
NM_000117.3(EMD):c.449G>C (p.Arg150Thr)
|
rs1557182571
|
|
|
NM_000117.3(EMD):c.450-11T>C
|
|
|
|
NM_000117.3(EMD):c.450-13T>G
|
rs375480222
|
|
|
NM_000117.3(EMD):c.450-14C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>G
|
|
|
|
NM_000117.3(EMD):c.450-17C>T
|
|
|
|
NM_000117.3(EMD):c.450-2A>G
|
rs398123158
|
|
|
NM_000117.3(EMD):c.450-6C>T
|
|
|
|
NM_000117.3(EMD):c.450-8T>C
|
|
|
|
NM_000117.3(EMD):c.456C>T (p.Arg152=)
|
rs2148128787
|
|
|
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
|
|
|
|
NM_000117.3(EMD):c.459C>G (p.Pro153=)
|
rs782147479
|
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
|
NM_000117.3(EMD):c.46C>T (p.Leu16=)
|
rs2148127980
|
|
|
NM_000117.3(EMD):c.475_476del (p.Ser159fs)
|
rs2067883871
|
|
|
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter)
|
rs2148128811
|
|
|
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)
|
rs1557182611
|
|
|
NM_000117.3(EMD):c.487A>G (p.Ser163Gly)
|
rs1557182614
|
|
|
NM_000117.3(EMD):c.48G>T (p.Leu16=)
|
|
|
|
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)
|
rs2067884058
|
|
|
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
|
|
|
|
NM_000117.3(EMD):c.495G>T (p.Thr165=)
|
rs151074632
|
|
|
NM_000117.3(EMD):c.497A>G (p.His166Arg)
|
rs1016943599
|
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
|
NM_000117.3(EMD):c.503G>A (p.Arg168His)
|
rs898460509
|
|
|
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
|
|
|
|
NM_000117.3(EMD):c.510T>C (p.Val170=)
|
rs2148128835
|
|
|
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)
|
rs886044901
|
|
|
NM_000117.3(EMD):c.516C>T (p.Ala172=)
|
|
|
|
NM_000117.3(EMD):c.520A>C (p.Arg174=)
|
|
|
|
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
|
|
|
|
NM_000117.3(EMD):c.525C>G (p.Ser175Arg)
|
rs782367505
|
|
|
NM_000117.3(EMD):c.529C>T (p.Leu177=)
|
|
|
|
NM_000117.3(EMD):c.52C>A (p.Arg18=)
|
rs2148127991
|
|
|
NM_000117.3(EMD):c.533A>G (p.Asp178Gly)
|
rs2067884448
|
|
|
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
|
|
|
|
NM_000117.3(EMD):c.534C>T (p.Asp178=)
|
rs1430510939
|
|
|
NM_000117.3(EMD):c.535C>T (p.Leu179=)
|
rs1260147167
|
|
|
NM_000117.3(EMD):c.543T>C (p.Tyr181=)
|
|
|
|
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)
|
rs794729019
|
|
|
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
|
|
|
|
NM_000117.3(EMD):c.547C>T (p.Pro183Ser)
|
rs104894806
|
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.548C>T (p.Pro183Leu)
|
rs104894805
|
|
|
NM_000117.3(EMD):c.549T>C (p.Pro183=)
|
rs886044848
|
|
|
NM_000117.3(EMD):c.550_552del (p.Thr184del)
|
|
|
|
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
|
|
|
|
NM_000117.3(EMD):c.555C>T (p.Ser185=)
|
|
|
|
NM_000117.3(EMD):c.558C>T (p.Ser186=)
|
rs2148128859
|
|
|
NM_000117.3(EMD):c.561C>T (p.Ser187=)
|
|
|
|
NM_000117.3(EMD):c.561_567dup (p.Phe190fs)
|
rs2148128862
|
|
|
NM_000117.3(EMD):c.570del (p.Phe190fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.570dup (p.Met191fs)
|
rs2148128871
|
|
|
NM_000117.3(EMD):c.571A>G (p.Met191Val)
|
rs397515752
|
|
|
NM_000117.3(EMD):c.576C>G (p.Ser192=)
|
|
|
|
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)
|
rs2067884874
|
|
|
NM_000117.3(EMD):c.578C>T (p.Ser193Phe)
|
rs1220835396
|
|
|
NM_000117.3(EMD):c.579C>A (p.Ser193=)
|
rs781952637
|
|
|
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
|
|
|
|
NM_000117.3(EMD):c.581_582del (p.Ser194fs)
|
rs1557182654
|
|
|
NM_000117.3(EMD):c.582A>G (p.Ser194=)
|
rs781933286
|
|
|
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
|
|
|
|
NM_000117.3(EMD):c.587C>T (p.Ser196Phe)
|
rs781900414
|
|
|
NM_000117.3(EMD):c.591C>G (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.591C>T (p.Ser197=)
|
rs1227767189
|
|
|
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
|
|
|
|
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
|
|
|
|
NM_000117.3(EMD):c.600G>A (p.Trp200Ter)
|
rs1557182661
|
|
|
NM_000117.3(EMD):c.607del (p.Arg203fs)
|
rs1569552106
|
|
|
NM_000117.3(EMD):c.60del (p.Asn20fs)
|
rs886041854
|
|
|
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)
|
rs782299893
|
|
|
NM_000117.3(EMD):c.618C>G (p.Ile206Met)
|
rs782496874
|
|
|
NM_000117.3(EMD):c.619del (p.Arg207fs)
|
rs2067885544
|
|
|
NM_000117.3(EMD):c.620G>C (p.Arg207Pro)
|
rs782352489
|
|
|
NM_000117.3(EMD):c.621G>C (p.Arg207=)
|
|
|
|
NM_000117.3(EMD):c.621del (p.Pro208fs)
|
rs1557182670
|
|
|
NM_000117.3(EMD):c.623C>G (p.Pro208Arg)
|
rs987808355
|
|
|
NM_000117.3(EMD):c.631C>G (p.Arg211Gly)
|
rs782193940
|
|
|
NM_000117.3(EMD):c.639T>G (p.Pro213=)
|
|
|
|
NM_000117.3(EMD):c.63C>T (p.Ile21=)
|
|
|
|
NM_000117.3(EMD):c.640_644dup (p.Gln219fs)
|
rs1557182676
|
|
|
NM_000117.3(EMD):c.641G>C (p.Gly214Ala)
|
rs2148128967
|
|
|
NM_000117.3(EMD):c.643_653dup (p.Gln219fs)
|
rs2148128961
|
|
|
NM_000117.3(EMD):c.643del (p.Ala215fs)
|
|
|
|
NM_000117.3(EMD):c.650_654del (p.Leu217fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)
|
rs730880352
|
|
|
NM_000117.3(EMD):c.651G>A (p.Leu217=)
|
rs2067885915
|
|
|
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
|
|
|
|
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
|
|
|
|
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)
|
rs794729017
|
|
|
NM_000117.3(EMD):c.662G>A (p.Arg221His)
|
rs782057378
|
|
|
NM_000117.3(EMD):c.663C>T (p.Arg221=)
|
|
|
|
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
|
|
|
|
NM_000117.3(EMD):c.669C>T (p.Val223=)
|
|
|
|
NM_000117.3(EMD):c.66G>A (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.66G>T (p.Pro22=)
|
|
|
|
NM_000117.3(EMD):c.670C>T (p.Pro224Ser)
|
rs1557182687
|
|
|
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
|
|
|
|
NM_000117.3(EMD):c.672G>C (p.Pro224=)
|
|
|
|
NM_000117.3(EMD):c.674del (p.Leu225fs)
|
|
|
|
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
|
|
|
|
NM_000117.3(EMD):c.680_684del (p.Gly227fs)
|
rs2148128987
|
|
|
NM_000117.3(EMD):c.681C>A (p.Gly227=)
|
|
|
|
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
|
|
|
|
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del)
|
rs2067886222
|
|
|
NM_000117.3(EMD):c.688C>T (p.Leu230=)
|
rs980424914
|
|
|
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro)
|
rs2067873549
|
|
|
NM_000117.3(EMD):c.697C>T (p.Leu233=)
|
rs1603366026
|
|
|
NM_000117.3(EMD):c.69C>G (p.His23Gln)
|
|
|
|
NM_000117.3(EMD):c.706G>A (p.Val236Met)
|
|
|
|
NM_000117.3(EMD):c.709A>G (p.Ile237Val)
|
rs2148129009
|
|
|
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)
|
rs727504628
|
|
|
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
|
|
|
|
NM_000117.3(EMD):c.712G>A (p.Val238Ile)
|
rs782455914
|
|
|
NM_000117.3(EMD):c.717_718del (p.Phe240fs)
|
rs1603366041
|
|
|
NM_000117.3(EMD):c.718T>C (p.Phe240Leu)
|
|
|
|
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del)
|
rs2148129019
|
|
|
NM_000117.3(EMD):c.720C>T (p.Phe240=)
|
rs2067886666
|
|
|
NM_000117.3(EMD):c.723C>T (p.Phe241=)
|
|
|
|
NM_000117.3(EMD):c.725T>G (p.Ile242Ser)
|
rs2067886717
|
|
|
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)
|
rs876661346
|
|
|
NM_000117.3(EMD):c.741G>A (p.Gln247=)
|
|
|
|
NM_000117.3(EMD):c.74C>G (p.Pro25Arg)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.74C>T (p.Pro25Leu)
|
rs2067873634
|
|
|
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
|
|
|
|
NM_000117.3(EMD):c.762C>T (p.Phe254=)
|
rs1603366051
|
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
|
NM_000117.3(EMD):c.77dup (p.Val27fs)
|
rs2067873691
|
|
|
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
|
|
|
|
NM_000117.3(EMD):c.82+12C>T
|
|
|
|
NM_000117.3(EMD):c.82+19G>C
|
|
|
|
NM_000117.3(EMD):c.82+20A>C
|
|
|
|
NM_000117.3(EMD):c.82+3A>G
|
|
|
|
NM_000117.3(EMD):c.82+4C>A
|
rs376569563
|
|
|
NM_000117.3(EMD):c.82+4C>T
|
|
|
|
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.82G>C (p.Gly28Arg)
|
rs1064797380
|
|
|
NM_000117.3(EMD):c.83-12G>A
|
|
|
|
NM_000117.3(EMD):c.83-13C>T
|
|
|
|
NM_000117.3(EMD):c.83-16C>T
|
|
|
|
NM_000117.3(EMD):c.83-17G>A
|
rs782637320
|
|
|
NM_000117.3(EMD):c.83-2A>C
|
rs727504901
|
|
|
NM_000117.3(EMD):c.83-6G>A
|
|
|
|
NM_000117.3(EMD):c.83-9T>C
|
|
|
|
NM_000117.3(EMD):c.83G>A (p.Gly28Glu)
|
rs781978021
|
|
|
NM_000117.3(EMD):c.85T>C (p.Ser29Pro)
|
rs2067874763
|
|
|
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
|
|
|
|
NM_000117.3(EMD):c.87A>G (p.Ser29=)
|
|
|
|
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)
|
rs2148128120
|
|
|
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)
|
|
|
|
NM_000117.3(EMD):c.96G>A (p.Arg32=)
|
|
|
|
NM_000117.3(EMD):c.9C>T (p.Asn3=)
|
|
|
|
NM_000240.4(MAOA):c.1052+17T>G
|
|
|
|
NM_000240.4(MAOA):c.1052+4G>C
|
|
|
|
NM_000240.4(MAOA):c.1053-10C>G
|
rs1601948966
|
|
|
NM_000240.4(MAOA):c.1094A>G (p.His365Arg)
|
|
|
|
NM_000240.4(MAOA):c.1106+15C>T
|
|
|
|
NM_000240.4(MAOA):c.1164+7A>C
|
|
|
|
NM_000240.4(MAOA):c.1165-18T>G
|
|
|
|
NM_000240.4(MAOA):c.1214del (p.Gly405fs)
|
rs2147107556
|
|
|
NM_000240.4(MAOA):c.1215C>T (p.Gly405=)
|
|
|
|
NM_000240.4(MAOA):c.1253A>G (p.Gln418Arg)
|
|
|
|
NM_000240.4(MAOA):c.1263-16C>G
|
|
|
|
NM_000240.4(MAOA):c.1279G>A (p.Val427Met)
|
|
|
|
NM_000240.4(MAOA):c.1279G>T (p.Val427Leu)
|
|
|
|
NM_000240.4(MAOA):c.1299G>A (p.Ala433=)
|
|
|
|
NM_000240.4(MAOA):c.1361G>A (p.Arg454Gln)
|
rs2033978967
|
|
|
NM_000240.4(MAOA):c.1375-14T>C
|
|
|
|
NM_000240.4(MAOA):c.1390G>A (p.Gly464Arg)
|
|
|
|
NM_000240.4(MAOA):c.1401C>T (p.Thr467=)
|
|
|
|
NM_000240.4(MAOA):c.1418T>C (p.Val473Ala)
|
|
|
|
NM_000240.4(MAOA):c.1437+11T>C
|
|
|
|
NM_000240.4(MAOA):c.1437+4A>T
|
|
|
|
NM_000240.4(MAOA):c.1440C>A (p.Asp480Glu)
|
rs367715125
|
|
|
NM_000240.4(MAOA):c.1449G>A (p.Ala483=)
|
|
|
|
NM_000240.4(MAOA):c.1549G>C (p.Val517Leu)
|
|
|
|
NM_000240.4(MAOA):c.1564A>G (p.Lys522Glu)
|
|
|
|
NM_000240.4(MAOA):c.1567C>T (p.Leu523Phe)
|
rs2033984974
|
|
|
NM_000240.4(MAOA):c.15G>A (p.Glu5=)
|
rs2147066663
|
|
|
NM_000240.4(MAOA):c.163A>C (p.Ile55Leu)
|
|
|
|
NM_000240.4(MAOA):c.163A>G (p.Ile55Val)
|
|
|
|
NM_000240.4(MAOA):c.168+11_168+15del
|
rs375984321
|
|
|
NM_000240.4(MAOA):c.186C>T (p.Tyr62=)
|
|
|
|
NM_000240.4(MAOA):c.188T>C (p.Val63Ala)
|
|
|
|
NM_000240.4(MAOA):c.290T>C (p.Leu97Pro)
|
rs2147085459
|
|
|
NM_000240.4(MAOA):c.306+18C>A
|
|
|
|
NM_000240.4(MAOA):c.307-18T>C
|
|
|
|
NM_000240.4(MAOA):c.307-19G>C
|
|
|
|
NM_000240.4(MAOA):c.3G>A (p.Met1Ile)
|
rs1601921232
|
|
|
NM_000240.4(MAOA):c.412-20G>A
|
|
|
|
NM_000240.4(MAOA):c.421G>A (p.Asp141Asn)
|
|
|
|
NM_000240.4(MAOA):c.56T>C (p.Ile19Thr)
|
|
|
|
NM_000240.4(MAOA):c.576G>T (p.Leu192=)
|
|
|
|
NM_000240.4(MAOA):c.635A>G (p.Asn212Ser)
|
|
|
|
NM_000240.4(MAOA):c.645+13T>A
|
|
|
|
NM_000240.4(MAOA):c.650G>A (p.Arg217Gln)
|
|
|
|
NM_000240.4(MAOA):c.73+19G>C
|
|
|
|
NM_000240.4(MAOA):c.732C>T (p.Val244=)
|
rs980804164
|
|
|
NM_000240.4(MAOA):c.736C>A (p.His246Asn)
|
|
|
|
NM_000240.4(MAOA):c.74-6C>T
|
rs1196492976
|
|
|
NM_000240.4(MAOA):c.74-9T>A
|
|
|
|
NM_000240.4(MAOA):c.766A>G (p.Ile256Val)
|
rs2147102887
|
|
|
NM_000240.4(MAOA):c.774G>A (p.Thr258=)
|
|
|
|
NM_000240.4(MAOA):c.796-15T>G
|
|
|
|
NM_000240.4(MAOA):c.796-9G>A
|
rs2033882536
|
|
|
NM_000240.4(MAOA):c.804C>T (p.Tyr268=)
|
|
|
|
NM_000240.4(MAOA):c.812A>G (p.Asn271Ser)
|
rs2147103024
|
|
|
NM_000240.4(MAOA):c.831G>A (p.Leu277=)
|
|
|
|
NM_000240.4(MAOA):c.933G>A (p.Lys311=)
|
|
|
|
NM_000240.4(MAOA):c.955+4G>A
|
|
|
|
NM_000252.2(MTM1):c.1169T>A (p.Met390Lys)
|
rs727504019
|
|
|
NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)
|
rs2148497926
|
|
|
NM_000252.3(MTM1):c.102T>C (p.Ala34=)
|
|
|
|
NM_000252.3(MTM1):c.1040T>G (p.Leu347Ter)
|
rs398123264
|
|
|
NM_000252.3(MTM1):c.1047T>C (p.His349=)
|
|
|
|
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
|
|
|
|
NM_000252.3(MTM1):c.1053+14G>T
|
|
|
|
NM_000252.3(MTM1):c.1053+20dup
|
|
|
|
NM_000252.3(MTM1):c.1053+8T>C
|
|
|
|
NM_000252.3(MTM1):c.1054-18C>G
|
|
|
|
NM_000252.3(MTM1):c.1054-4T>C
|
|
|
|
NM_000252.3(MTM1):c.1054-5G>C
|
rs398123265
|
|
|
NM_000252.3(MTM1):c.1054-6dup
|
|
|
|
NM_000252.3(MTM1):c.1054-9_1054-6del
|
rs782691958
|
|
|
NM_000252.3(MTM1):c.1056C>T (p.Leu352=)
|
rs1216921434
|
|
|
NM_000252.3(MTM1):c.1062G>A (p.Leu354=)
|
rs1603204575
|
|
|
NM_000252.3(MTM1):c.1065A>G (p.Thr355=)
|
rs1603204585
|
|
|
NM_000252.3(MTM1):c.1084G>C (p.Asp362His)
|
rs2148508579
|
|
|
NM_000252.3(MTM1):c.1086C>T (p.Asp362=)
|
rs2148508590
|
|
|
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg)
|
rs2148508637
|
|
|
NM_000252.3(MTM1):c.1116del (p.Val373fs)
|
|
|
|
NM_000252.3(MTM1):c.1119G>A (p.Val373=)
|
rs941979306
|
|
|
NM_000252.3(MTM1):c.1122T>C (p.His374=)
|
rs2040150089
|
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
|
NM_000252.3(MTM1):c.1149T>C (p.Ala383=)
|
|
|
|
NM_000252.3(MTM1):c.1153C>T (p.Leu385=)
|
|
|
|
NM_000252.3(MTM1):c.1158A>G (p.Thr386=)
|
|
|
|
NM_000252.3(MTM1):c.116del (p.Pro39fs)
|
rs2038979352
|
|
|
NM_000252.3(MTM1):c.1179G>A (p.Leu393=)
|
|
|
|
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
|
rs2040151430
|
|
|
NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)
|
rs132630303
|
|
|
NM_000252.3(MTM1):c.1204G>A (p.Gly402Arg)
|
rs1569565525
|
|
|
NM_000252.3(MTM1):c.1210G>A (p.Glu404Lys)
|
rs781933660
|
|
|
NM_000252.3(MTM1):c.1212A>C (p.Glu404Asp)
|
rs2040152678
|
|
|
NM_000252.3(MTM1):c.1245A>G (p.Gly415=)
|
rs2148508923
|
|
|
NM_000252.3(MTM1):c.1260+10C>T
|
|
|
|
NM_000252.3(MTM1):c.1260+15C>G
|
|
|
|
NM_000252.3(MTM1):c.1260+19T>C
|
|
|
|
NM_000252.3(MTM1):c.1260+5G>A
|
rs587783769
|
|
|
NM_000252.3(MTM1):c.1261-10A>C
|
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
|
NM_000252.3(MTM1):c.1261-15C>T
|
|
|
|
NM_000252.3(MTM1):c.1261-18C>G
|
|
|
|
NM_000252.3(MTM1):c.1261-20A>G
|
|
|
|
NM_000252.3(MTM1):c.1261-21_1261-16del
|
|
|
|
NM_000252.3(MTM1):c.1261-2A>C
|
rs2148510791
|
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
|
NM_000252.3(MTM1):c.1269T>A (p.Gly423=)
|
|
|
|
NM_000252.3(MTM1):c.129A>T (p.Leu43=)
|
|
|
|
NM_000252.3(MTM1):c.1302T>C (p.Arg434=)
|
rs2148510860
|
|
|
NM_000252.3(MTM1):c.1323T>C (p.Phe441=)
|
|
|
|
NM_000252.3(MTM1):c.1329T>C (p.Asp443=)
|
|
|
|
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
|
|
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
|
NM_000252.3(MTM1):c.1353+14G>A
|
|
|
|
NM_000252.3(MTM1):c.1353+4A>C
|
|
|
|
NM_000252.3(MTM1):c.1353+9T>A
|
|
|
|
NM_000252.3(MTM1):c.1353G>A (p.Gln451=)
|
rs587783781
|
|
|
NM_000252.3(MTM1):c.1354-19_1354-16del
|
|
|
|
NM_000252.3(MTM1):c.1354-2A>T
|
rs781835307
|
|
|
NM_000252.3(MTM1):c.1354-7del
|
rs782326353
|
|
|
NM_000252.3(MTM1):c.136+11G>C
|
|
|
|
NM_000252.3(MTM1):c.136+14G>A
|
|
|
|
NM_000252.3(MTM1):c.136+5G>A
|
|
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
|
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys)
|
rs398123269
|
|
|
NM_000252.3(MTM1):c.137-11del
|
|
|
|
NM_000252.3(MTM1):c.137-11dup
|
rs797045716
|
|
|
NM_000252.3(MTM1):c.137-18del
|
|
|
|
NM_000252.3(MTM1):c.137-7T>G
|
rs587783784
|
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
|
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
|
|
|
|
NM_000252.3(MTM1):c.1392T>C (p.Ile464=)
|
rs2148511855
|
|
|
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
|
|
|
|
NM_000252.3(MTM1):c.1406A>C (p.His469Pro)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
|
NM_000252.3(MTM1):c.1419C>T (p.Cys473=)
|
|
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
|
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
|
|
|
|
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala)
|
rs2040200948
|
|
|
NM_000252.3(MTM1):c.1436_1437insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCTGGTACTTTCTT (p.Phe478_Leu479insPhePhePhePhePhePhePheXaaXaaXaaXaaSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGlyThrPhe)
|
|
|
|
NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)
|
rs2148511944
|
|
|
NM_000252.3(MTM1):c.1449A>G (p.Glu483=)
|
rs2148511948
|
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
|
NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)
|
rs2148511970
|
|
|
NM_000252.3(MTM1):c.1467+24del
|
|
|
|
NM_000252.3(MTM1):c.1467+24dup
|
|
|
|
NM_000252.3(MTM1):c.1468-11TC[2]
|
rs2148515446
|
|
|
NM_000252.3(MTM1):c.1468-12G>A
|
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|
|
NM_000252.3(MTM1):c.1468-12G>C
|
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|
NM_000252.3(MTM1):c.1468-12G>T
|
|
|
|
NM_000252.3(MTM1):c.1468-12_1468-11del
|
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|
|
NM_000252.3(MTM1):c.1468-18_1468-13del
|
|
|
|
NM_000252.3(MTM1):c.1468-21TC[2]
|
|
|
|
NM_000252.3(MTM1):c.1468-5T>C
|
rs2148515462
|
|
|
NM_000252.3(MTM1):c.1468-8C>T
|
rs1276451236
|
|
|
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg)
|
rs781948606
|
|
|
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
|
|
|
|
NM_000252.3(MTM1):c.147T>A (p.Val49=)
|
rs2148434016
|
|
|
NM_000252.3(MTM1):c.1485T>A (p.Thr495=)
|
rs2148515501
|
|
|
NM_000252.3(MTM1):c.1501C>T (p.Leu501=)
|
rs2148515532
|
|
|
NM_000252.3(MTM1):c.1503G>C (p.Leu501=)
|
rs2148515546
|
|
|
NM_000252.3(MTM1):c.1505T>A (p.Ile502Lys)
|
rs1557414802
|
|
|
NM_000252.3(MTM1):c.1509C>T (p.Asn503=)
|
rs1603208456
|
|
|
NM_000252.3(MTM1):c.1509_1510del (p.Asn503fs)
|
|
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|
NM_000252.3(MTM1):c.1518A>G (p.Lys506=)
|
rs2040257647
|
|
|
NM_000252.3(MTM1):c.1521A>G (p.Glu507=)
|
rs2148515589
|
|
|
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu)
|
rs2040257723
|
|
|
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg)
|
rs2148515610
|
|
|
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys)
|
rs1569565536
|
|
|
NM_000252.3(MTM1):c.153C>T (p.Tyr51=)
|
rs2148434034
|
|
|
NM_000252.3(MTM1):c.1542T>C (p.Tyr514=)
|
|
|
|
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu)
|
rs868972342
|
|
|
NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)
|
rs868972342
|
|
|
NM_000252.3(MTM1):c.1551A>G (p.Glu517=)
|
rs2040258177
|
|
|
NM_000252.3(MTM1):c.1558C>A (p.Arg520=)
|
rs587783805
|
|
|
NM_000252.3(MTM1):c.1566A>G (p.Leu522=)
|
rs2148515668
|
|
|
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
|
|
|
|
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
|
|
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|
NM_000252.3(MTM1):c.1575T>A (p.Val525=)
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|
|
|
NM_000252.3(MTM1):c.1578C>T (p.Ala526=)
|
rs1603208507
|
|
|
NM_000252.3(MTM1):c.1591T>C (p.Leu531=)
|
rs2040258987
|
|
|
NM_000252.3(MTM1):c.1596A>G (p.Glu532=)
|
|
|
|
NM_000252.3(MTM1):c.1599C>T (p.Leu533=)
|
rs2148515718
|
|
|
NM_000252.3(MTM1):c.15A>C (p.Ser5=)
|
rs2148425501
|
|
|
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu)
|
rs2148515723
|
|
|
NM_000252.3(MTM1):c.1608T>C (p.Asn536=)
|
|
|
|
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
|
|
|
|
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
|
|
|
|
NM_000252.3(MTM1):c.1632G>A (p.Arg544=)
|
|
|
|
NM_000252.3(MTM1):c.1644+18G>A
|
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|
NM_000252.3(MTM1):c.1644+19T>G
|
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|
|
NM_000252.3(MTM1):c.1645-13T>C
|
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|
|
NM_000252.3(MTM1):c.1645-14_1645-13del
|
|
|
|
NM_000252.3(MTM1):c.1645-17T>A
|
|
|
|
NM_000252.3(MTM1):c.1645-17T>G
|
|
|
|
NM_000252.3(MTM1):c.1645-19A>C
|
|
|
|
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
|
|
|
|
NM_000252.3(MTM1):c.1650G>A (p.Pro550=)
|
rs2040394486
|
|
|
NM_000252.3(MTM1):c.1662G>A (p.Glu554=)
|
rs1603214698
|
|
|
NM_000252.3(MTM1):c.1665G>A (p.Gln555=)
|
|
|
|
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys)
|
rs1603214706
|
|
|
NM_000252.3(MTM1):c.1667G>A (p.Arg556His)
|
rs372735301
|
|
|
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
|
|
|
|
NM_000252.3(MTM1):c.1680C>G (p.Leu560=)
|
|
|
|
NM_000252.3(MTM1):c.1683A>G (p.Leu561=)
|
rs2148525035
|
|
|
NM_000252.3(MTM1):c.16A>G (p.Thr6Ala)
|
|
|
|
NM_000252.3(MTM1):c.1713T>C (p.Leu571=)
|
rs1557415142
|
|
|
NM_000252.3(MTM1):c.171C>A (p.Gly57=)
|
rs782505553
|
|
|
NM_000252.3(MTM1):c.1722G>A (p.Leu574=)
|
rs781846889
|
|
|
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro)
|
rs1347335331
|
|
|
NM_000252.3(MTM1):c.1728C>A (p.Leu576=)
|
|
|
|
NM_000252.3(MTM1):c.1728C>T (p.Leu576=)
|
rs375031903
|
|
|
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
|
|
|
|
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
|
|
|
|
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala)
|
rs1195705222
|
|
|
NM_000252.3(MTM1):c.1755C>A (p.Pro585=)
|
|
|
|
NM_000252.3(MTM1):c.1756C>T (p.Pro586Ser)
|
|
|
|
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
|
|
|
|
NM_000252.3(MTM1):c.1761T>G (p.Thr587=)
|
rs2148525231
|
|
|
NM_000252.3(MTM1):c.1766C>G (p.Pro589Arg)
|
|
|
|
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
|
|
|
|
NM_000252.3(MTM1):c.1779G>T (p.Ser593=)
|
rs782375296
|
|
|
NM_000252.3(MTM1):c.1791C>G (p.Pro597=)
|
|
|
|
NM_000252.3(MTM1):c.180G>A (p.Lys60=)
|
|
|
|
NM_000252.3(MTM1):c.1811del (p.Phe603_Ter604insTer)
|
|
|
|
NM_000252.3(MTM1):c.18T>A (p.Thr6=)
|
|
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
|
NM_000252.3(MTM1):c.214T>C (p.Leu72=)
|
|
|
|
NM_000252.3(MTM1):c.21T>G (p.Ser7=)
|
|
|
|
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
|
|
|
|
NM_000252.3(MTM1):c.231+8G>A
|
rs2148434174
|
|
|
NM_000252.3(MTM1):c.232-11G>T
|
|
|
|
NM_000252.3(MTM1):c.232-12dup
|
|
|
|
NM_000252.3(MTM1):c.232-8C>T
|
rs782389461
|
|
|
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
|
|
|
|
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
|
|
|
|
NM_000252.3(MTM1):c.273G>A (p.Ser91=)
|
rs1447559040
|
|
|
NM_000252.3(MTM1):c.27T>C (p.Tyr9=)
|
|
|
|
NM_000252.3(MTM1):c.27T>G (p.Tyr9Ter)
|
|
|
|
NM_000252.3(MTM1):c.294C>T (p.Gly98=)
|
|
|
|
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
|
|
|
|
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
|
|
|
|
NM_000252.3(MTM1):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
|
NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)
|
rs2148456062
|
|
|
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
|
|
|
|
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
|
|
|
|
NM_000252.3(MTM1):c.336T>A (p.Thr112=)
|
|
|
|
NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)
|
rs147644722
|
|
|
NM_000252.3(MTM1):c.342+12G>A
|
|
|
|
NM_000252.3(MTM1):c.342+17T>C
|
|
|
|
NM_000252.3(MTM1):c.342+19T>C
|
|
|
|
NM_000252.3(MTM1):c.342+19_342+22del
|
|
|
|
NM_000252.3(MTM1):c.342+9T>C
|
rs2148456159
|
|
|
NM_000252.3(MTM1):c.342+9T>G
|
|
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
|
NM_000252.3(MTM1):c.343-12C>T
|
rs2039433672
|
|
|
NM_000252.3(MTM1):c.343-16T>C
|
|
|
|
NM_000252.3(MTM1):c.343-1G>A
|
rs2148461695
|
|
|
NM_000252.3(MTM1):c.343-3dup
|
rs2148461677
|
|
|
NM_000252.3(MTM1):c.345C>T (p.Asp115=)
|
rs2148461700
|
|
|
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
|
|
|
|
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
|
|
|
|
NM_000252.3(MTM1):c.369G>A (p.Leu123=)
|
|
|
|
NM_000252.3(MTM1):c.375G>A (p.Gln125=)
|
|
|
|
NM_000252.3(MTM1):c.387C>T (p.Ser129=)
|
|
|
|
NM_000252.3(MTM1):c.396T>C (p.Asp132=)
|
|
|
|
NM_000252.3(MTM1):c.397A>G (p.Met133Val)
|
rs2039434563
|
|
|
NM_000252.3(MTM1):c.408C>T (p.Ile136=)
|
|
|
|
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro)
|
rs2148461766
|
|
|
NM_000252.3(MTM1):c.411C>T (p.Leu137=)
|
|
|
|
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
|
|
|
|
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro)
|
rs1557413215
|
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
|
NM_000252.3(MTM1):c.432G>T (p.Leu144=)
|
rs2148461815
|
|
|
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly)
|
rs964287315
|
|
|
NM_000252.3(MTM1):c.444+10A>G
|
rs782479470
|
|
|
NM_000252.3(MTM1):c.444+12T>C
|
rs2148461835
|
|
|
NM_000252.3(MTM1):c.444+15T>C
|
|
|
|
NM_000252.3(MTM1):c.444+17T>C
|
|
|
|
NM_000252.3(MTM1):c.444+19C>G
|
|
|
|
NM_000252.3(MTM1):c.444+19_444+21del
|
|
|
|
NM_000252.3(MTM1):c.444+2T>A
|
|
|
|
NM_000252.3(MTM1):c.445-12dup
|
|
|
|
NM_000252.3(MTM1):c.445-20T>C
|
|
|
|
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg)
|
rs2148485707
|
|
|
NM_000252.3(MTM1):c.450A>G (p.Leu150=)
|
|
|
|
NM_000252.3(MTM1):c.456A>G (p.Ala152=)
|
|
|
|
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
|
|
|
|
NM_000252.3(MTM1):c.465T>C (p.Asn155=)
|
|
|
|
NM_000252.3(MTM1):c.466G>A (p.Glu156Lys)
|
|
|
|
NM_000252.3(MTM1):c.473del (p.Lys158fs)
|
|
|
|
NM_000252.3(MTM1):c.483G>A (p.Val161=)
|
|
|
|
NM_000252.3(MTM1):c.495A>G (p.Thr165=)
|
|
|
|
NM_000252.3(MTM1):c.501C>T (p.Tyr167=)
|
rs2039803075
|
|
|
NM_000252.3(MTM1):c.504T>C (p.Asn168=)
|
|
|
|
NM_000252.3(MTM1):c.516del (p.Glu172fs)
|
rs2039803495
|
|
|
NM_000252.3(MTM1):c.519C>T (p.Tyr173=)
|
rs2148485835
|
|
|
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
|
|
|
|
NM_000252.3(MTM1):c.528+10dup
|
|
|
|
NM_000252.3(MTM1):c.528+13A>G
|
|
|
|
NM_000252.3(MTM1):c.528+13A>T
|
|
|
|
NM_000252.3(MTM1):c.528+17T>A
|
rs2148485858
|
|
|
NM_000252.3(MTM1):c.528+18A>G
|
|
|
|
NM_000252.3(MTM1):c.528+18_528+22dup
|
|
|
|
NM_000252.3(MTM1):c.528+1G>A
|
|
|
|
NM_000252.3(MTM1):c.529-5C>T
|
|
|
|
NM_000252.3(MTM1):c.529-9dup
|
|
|
|
NM_000252.3(MTM1):c.530G>T (p.Gly177Val)
|
rs1603187659
|
|
|
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr)
|
rs587783832
|
|
|
NM_000252.3(MTM1):c.543C>G (p.His181Gln)
|
rs1603187692
|
|
|
NM_000252.3(MTM1):c.544C>T (p.His182Tyr)
|
rs2148488398
|
|
|
NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)
|
rs2148488410
|
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
|
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu)
|
rs2148488427
|
|
|
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
|
|
|
|
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
|
|
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
|
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys)
|
rs587783838
|
|
|
NM_000252.3(MTM1):c.576T>C (p.Tyr192=)
|
rs2148488477
|
|
|
NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)
|
rs2148488506
|
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
|
NM_000252.3(MTM1):c.5C>T (p.Ala2Val)
|
rs1603118990
|
|
|
NM_000252.3(MTM1):c.600T>G (p.Ala200=)
|
|
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
|
NM_000252.3(MTM1):c.619C>T (p.Arg207Cys)
|
rs1470686963
|
|
|
NM_000252.3(MTM1):c.624C>T (p.Ala208=)
|
|
|
|
NM_000252.3(MTM1):c.624del (p.Ser209fs)
|
rs2039846270
|
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
|
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
|
|
|
|
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys)
|
rs2148425592
|
|
|
NM_000252.3(MTM1):c.63+16A>G
|
|
|
|
NM_000252.3(MTM1):c.63+21del
|
|
|
|
NM_000252.3(MTM1):c.63+7del
|
rs782222093
|
|
|
NM_000252.3(MTM1):c.636C>T (p.Asp212=)
|
|
|
|
NM_000252.3(MTM1):c.64-2A>G
|
rs1603123976
|
|
|
NM_000252.3(MTM1):c.64-7T>C
|
rs1603123969
|
|
|
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
|
|
|
|
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
|
|
|
|
NM_000252.3(MTM1):c.664C>A (p.Arg222=)
|
rs587783847
|
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
|
NM_000252.3(MTM1):c.675T>C (p.Ile225=)
|
|
|
|
NM_000252.3(MTM1):c.678+18C>T
|
|
|
|
NM_000252.3(MTM1):c.678+19G>A
|
rs1215955664
|
|
|
NM_000252.3(MTM1):c.678+5G>A
|
|
|
|
NM_000252.3(MTM1):c.678+6T>A
|
rs2039847628
|
|
|
NM_000252.3(MTM1):c.678+7A>G
|
rs2148488635
|
|
|
NM_000252.3(MTM1):c.678+9T>C
|
|
|
|
NM_000252.3(MTM1):c.678+9T>G
|
|
|
|
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
|
|
|
|
NM_000252.3(MTM1):c.679-10T>G
|
rs782314713
|
|
|
NM_000252.3(MTM1):c.679-19C>G
|
|
|
|
NM_000252.3(MTM1):c.679-1G>A
|
rs672601324
|
|
|
NM_000252.3(MTM1):c.679-22_679-17del
|
|
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
|
NM_000252.3(MTM1):c.684G>A (p.Leu228=)
|
rs587783852
|
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
|
NM_000252.3(MTM1):c.6T>C (p.Ala2=)
|
|
|
|
NM_000252.3(MTM1):c.6T>G (p.Ala2=)
|
|
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
|
NM_000252.3(MTM1):c.711G>A (p.Thr237=)
|
rs1162408107
|
|
|
NM_000252.3(MTM1):c.717T>C (p.Ile239=)
|
rs2148493140
|
|
|
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
|
|
|
|
NM_000252.3(MTM1):c.720G>A (p.Val240=)
|
rs2148493142
|
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
|
NM_000252.3(MTM1):c.726C>T (p.Cys242=)
|
rs2039919467
|
|
|
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly)
|
rs2148493156
|
|
|
NM_000252.3(MTM1):c.728G>A (p.Ser243Asn)
|
rs2039919583
|
|
|
NM_000252.3(MTM1):c.730C>T (p.Gln244Ter)
|
rs2039919698
|
|
|
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu)
|
rs1557413958
|
|
|
NM_000252.3(MTM1):c.742G>A (p.Gly248Ser)
|
rs368335697
|
|
|
NM_000252.3(MTM1):c.745A>G (p.Met249Val)
|
|
|
|
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
|
|
|
|
NM_000252.3(MTM1):c.753G>A (p.Gly251=)
|
rs1603192655
|
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
|
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del)
|
rs1603124011
|
|
|
NM_000252.3(MTM1):c.774G>A (p.Glu258=)
|
rs2148493209
|
|
|
NM_000252.3(MTM1):c.784G>A (p.Asp262Asn)
|
|
|
|
NM_000252.3(MTM1):c.787G>A (p.Val263Ile)
|
|
|
|
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
|
|
|
|
NM_000252.3(MTM1):c.804_805del (p.Asn268fs)
|
|
|
|
NM_000252.3(MTM1):c.810A>G (p.Gln270=)
|
rs782474609
|
|
|
NM_000252.3(MTM1):c.816T>G (p.Ser272=)
|
rs2148493297
|
|
|
NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)
|
rs2148493304
|
|
|
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)
|
rs2148493317
|
|
|
NM_000252.3(MTM1):c.825C>T (p.Thr275=)
|
rs2148493322
|
|
|
NM_000252.3(MTM1):c.834T>C (p.Asp278=)
|
|
|
|
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
|
|
|
|
NM_000252.3(MTM1):c.843C>T (p.Pro281=)
|
|
|
|
NM_000252.3(MTM1):c.846C>T (p.Ser282=)
|
rs375301020
|
|
|
NM_000252.3(MTM1):c.867+13_867+15del
|
|
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
|
NM_000252.3(MTM1):c.867+2T>A
|
|
|
|
NM_000252.3(MTM1):c.868-11T>C
|
|
|
|
NM_000252.3(MTM1):c.868-14A>G
|
|
|
|
NM_000252.3(MTM1):c.868-9_868-7del
|
rs2148497680
|
|
|
NM_000252.3(MTM1):c.87A>C (p.Arg29=)
|
|
|
|
NM_000252.3(MTM1):c.894T>C (p.Asp298=)
|
|
|
|
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr)
|
rs2148497733
|
|
|
NM_000252.3(MTM1):c.900A>G (p.Ala300=)
|
|
|
|
NM_000252.3(MTM1):c.905A>G (p.His302Arg)
|
rs2148497756
|
|
|
NM_000252.3(MTM1):c.912C>T (p.Ala304=)
|
rs782504569
|
|
|
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys)
|
rs587783861
|
|
|
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln)
|
rs587783861
|
|
|
NM_000252.3(MTM1):c.930C>T (p.Asp310=)
|
rs1603196546
|
|
|
NM_000252.3(MTM1):c.944A>G (p.His315Arg)
|
rs2148497817
|
|
|
NM_000252.3(MTM1):c.946G>A (p.Val316Ile)
|
rs2148497828
|
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
|
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp)
|
rs2039989751
|
|
|
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
|
|
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
|
NM_000252.3(MTM1):c.972G>A (p.Val324=)
|
|
|
|
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu)
|
rs2148497898
|
|
|
NM_000252.3(MTM1):c.990T>C (p.Pro330=)
|
|
|
|
NM_000252.3(MTM1):c.996A>G (p.Val332=)
|
|
|
|
NM_000252.3(MTM1):c.99G>A (p.Glu33=)
|
|
|
|
NM_000377.3(WAS):c.-37_132+35del
|
rs1602176146
|
|
|
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
|
|
|
|
NM_000377.3(WAS):c.1001del (p.Gly334fs)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
|
|
|
|
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)
|
rs132630271
|
|
|
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs)
|
rs2147266379
|
|
|
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
|
|
|
|
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
|
|
|
|
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
|
|
|
|
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
|
|
|
|
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
|
|
|
|
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
|
|
|
|
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
|
|
|
|
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
|
|
|
|
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
|
|
|
|
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del)
|
rs1569494034
|
|
|
NM_000377.3(WAS):c.1058dup (p.Pro354fs)
|
rs1557007165
|
|
|
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
|
|
|
|
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
|
|
|
|
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
|
|
|
|
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
|
|
|
|
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu)
|
rs267606468
|
|
|
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
|
|
|
|
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
|
|
|
|
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser)
|
rs2062428888
|
|
|
NM_000377.3(WAS):c.1080A>C (p.Pro360=)
|
rs1409607754
|
|
|
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr)
|
rs2147266477
|
|
|
NM_000377.3(WAS):c.1085del (p.Pro362fs)
|
rs2147266474
|
|
|
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
|
|
|
|
NM_000377.3(WAS):c.1086A>G (p.Pro362=)
|
rs1304836055
|
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
|
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
|
|
|
|
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
|
|
|
|
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
|
|
|
|
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
|
|
|
|
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
|
|
|
|
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
|
|
|
|
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
|
|
|
|
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
|
|
|
|
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
|
|
|
|
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
|
|
|
|
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
|
|
|
|
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
|
|
|
|
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
|
|
|
|
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
|
|
|
|
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
|
|
|
|
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
|
|
|
|
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
|
|
|
|
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
|
|
|
|
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
|
|
|
|
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
|
|
|
|
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
|
|
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
|
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
|
|
|
|
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr)
|
rs1043747875
|
|
|
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
|
|
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del)
|
rs193922412
|
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
|
|
|
|
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg)
|
rs1602179582
|
|
|
NM_000377.3(WAS):c.1197A>G (p.Pro399=)
|
rs1602179584
|
|
|
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu)
|
rs782596670
|
|
|
NM_000377.3(WAS):c.11del (p.Gly4fs)
|
rs587776745
|
|
|
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup)
|
rs2062430236
|
|
|
NM_000377.3(WAS):c.1203del (p.Pro402fs)
|
|
|
|
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
|
|
|
|
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
|
|
|
|
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)
|
rs11545907
|
|
|
NM_000377.3(WAS):c.1221del (p.Asn408fs)
|
|
|
|
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
|
|
|
|
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
|
|
|
|
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr)
|
rs782784813
|
|
|
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
|
|
|
|
NM_000377.3(WAS):c.1266del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
|
|
|
|
NM_000377.3(WAS):c.1271del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
|
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
|
|
|
|
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly)
|
rs2062430786
|
|
|
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
|
|
|
|
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
|
|
|
|
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
|
|
|
|
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
|
|
|
|
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
|
|
|
|
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro)
|
rs2062431125
|
|
|
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro)
|
rs2062431180
|
|
|
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
|
|
|
|
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
|
|
|
|
NM_000377.3(WAS):c.132+14C>G
|
|
|
|
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
|
|
|
|
NM_000377.3(WAS):c.133-15G>A
|
|
|
|
NM_000377.3(WAS):c.133-19C>G
|
|
|
|
NM_000377.3(WAS):c.133-19C>T
|
|
|
|
NM_000377.3(WAS):c.133-5C>T
|
|
|
|
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
|
|
|
|
NM_000377.3(WAS):c.1338+13A>G
|
|
|
|
NM_000377.3(WAS):c.1338+13A>T
|
|
|
|
NM_000377.3(WAS):c.1338+9A>C
|
|
|
|
NM_000377.3(WAS):c.1339-2A>G
|
rs2147267240
|
|
|
NM_000377.3(WAS):c.1339-6C>G
|
rs1207805593
|
|
|
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
|
|
|
|
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
|
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.135G>A (p.Thr45=)
|
|
|
|
NM_000377.3(WAS):c.135G>T (p.Thr45=)
|
|
|
|
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
|
|
|
|
NM_000377.3(WAS):c.136C>T (p.Leu46=)
|
|
|
|
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg)
|
rs782489472
|
|
|
NM_000377.3(WAS):c.138G>A (p.Leu46=)
|
|
|
|
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly)
|
rs2062432588
|
|
|
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
|
|
|
|
NM_000377.3(WAS):c.141C>T (p.Ala47=)
|
rs1602176588
|
|
|
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)
|
rs2062412197
|
|
|
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
|
|
|
|
NM_000377.3(WAS):c.1453+12C>T
|
|
|
|
NM_000377.3(WAS):c.1453+17G>A
|
|
|
|
NM_000377.3(WAS):c.1453+20G>C
|
|
|
|
NM_000377.3(WAS):c.1453+2T>G
|
rs2147267350
|
|
|
NM_000377.3(WAS):c.1453+6C>G
|
|
|
|
NM_000377.3(WAS):c.1453+9A>C
|
|
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
|
NM_000377.3(WAS):c.1454-11T>C
|
|
|
|
NM_000377.3(WAS):c.1454-12C>A
|
|
|
|
NM_000377.3(WAS):c.1454-12C>T
|
|
|
|
NM_000377.3(WAS):c.1454-5T>C
|
|
|
|
NM_000377.3(WAS):c.1454-6C>T
|
|
|
|
NM_000377.3(WAS):c.1454-7C>T
|
|
|
|
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys)
|
rs2062438405
|
|
|
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp)
|
rs975384814
|
|
|
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
|
|
|
|
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
|
|
|
|
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
|
|
|
|
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
|
|
|
|
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1])
|
rs1569494232
|
|
|
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala)
|
rs2147268585
|
|
|
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
|
|
|
|
NM_000377.3(WAS):c.149T>A (p.Val50Asp)
|
rs2147262772
|
|
|
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
|
|
|
|
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?)
|
rs2147268618
|
|
|
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
|
|
|
|
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
|
|
|
|
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
|
|
|
|
NM_000377.3(WAS):c.150T>A (p.Val50=)
|
|
|
|
NM_000377.3(WAS):c.156G>C (p.Gln52His)
|
|
|
|
NM_000377.3(WAS):c.159G>A (p.Leu53=)
|
|
|
|
NM_000377.3(WAS):c.164T>C (p.Leu55Pro)
|
rs2062412293
|
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
|
NM_000377.3(WAS):c.168G>A (p.Ala56=)
|
|
|
|
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)
|
rs2062412365
|
|
|
NM_000377.3(WAS):c.176del (p.Pro59fs)
|
rs2147262809
|
|
|
NM_000377.3(WAS):c.189C>T (p.His63=)
|
|
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
|
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
|
|
|
|
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
|
|
|
|
NM_000377.3(WAS):c.204T>C (p.His68=)
|
|
|
|
NM_000377.3(WAS):c.210G>A (p.Gly70=)
|
rs886038288
|
|
|
NM_000377.3(WAS):c.222C>T (p.Phe74=)
|
|
|
|
NM_000377.3(WAS):c.225G>A (p.Val75=)
|
|
|
|
NM_000377.3(WAS):c.227A>C (p.Lys76Thr)
|
rs782350319
|
|
|
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
|
|
|
|
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)
|
rs2062412730
|
|
|
NM_000377.3(WAS):c.243G>A (p.Lys81=)
|
|
|
|
NM_000377.3(WAS):c.250T>C (p.Phe84Leu)
|
rs2147262951
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
|
|
|
|
NM_000377.3(WAS):c.271C>T (p.Gln91Ter)
|
rs1557006354
|
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
|
NM_000377.3(WAS):c.273+11C>A
|
|
|
|
NM_000377.3(WAS):c.273+11C>G
|
|
|
|
NM_000377.3(WAS):c.273+11C>T
|
|
|
|
NM_000377.3(WAS):c.273+11del
|
|
|
|
NM_000377.3(WAS):c.273+11dup
|
rs58371799
|
|
|
NM_000377.3(WAS):c.273+14C>G
|
|
|
|
NM_000377.3(WAS):c.273+17C>T
|
|
|
|
NM_000377.3(WAS):c.273+19A>G
|
|
|
|
NM_000377.3(WAS):c.273+6C>T
|
|
|
|
NM_000377.3(WAS):c.273+8_273+9insA
|
|
|
|
NM_000377.3(WAS):c.273+9C>T
|
|
|
|
NM_000377.3(WAS):c.273+9_273+11dup
|
|
|
|
NM_000377.3(WAS):c.273G>A (p.Gln91=)
|
|
|
|
NM_000377.3(WAS):c.274-20C>A
|
|
|
|
NM_000377.3(WAS):c.274-9C>G
|
rs2062416001
|
|
|
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
|
|
|
|
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_000377.3(WAS):c.283C>T (p.Leu95=)
|
|
|
|
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000377.3(WAS):c.295del (p.Gln99fs)
|
|
|
|
NM_000377.3(WAS):c.296A>C (p.Gln99Pro)
|
rs2062416153
|
|
|
NM_000377.3(WAS):c.296A>G (p.Gln99Arg)
|
rs2062416153
|
|
|
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
|
|
|
|
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs)
|
rs2062416187
|
|
|
NM_000377.3(WAS):c.303G>A (p.Leu101=)
|
|
|
|
NM_000377.3(WAS):c.30C>A (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.30C>G (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.30C>T (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
|
rs2062416272
|
|
|
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
|
|
|
|
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
|
|
|
|
NM_000377.3(WAS):c.344A>G (p.His115Arg)
|
rs1569493774
|
|
|
NM_000377.3(WAS):c.348C>G (p.Thr116=)
|
|
|
|
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)
|
rs1602177243
|
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
|
NM_000377.3(WAS):c.360+13C>T
|
|
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
|
NM_000377.3(WAS):c.360+6T>C
|
|
|
|
NM_000377.3(WAS):c.361-10G>A
|
|
|
|
NM_000377.3(WAS):c.361-12A>G
|
rs781885441
|
|
|
NM_000377.3(WAS):c.361-1G>C
|
|
|
|
NM_000377.3(WAS):c.361-8A>T
|
|
|
|
NM_000377.3(WAS):c.369A>G (p.Gln123=)
|
|
|
|
NM_000377.3(WAS):c.371C>A (p.Ala124Glu)
|
rs782543817
|
|
|
NM_000377.3(WAS):c.372G>A (p.Ala124=)
|
|
|
|
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)
|
rs2147263882
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
|
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)
|
rs2147263906
|
|
|
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
|
|
|
|
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
|
|
|
|
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
|
|
|
|
NM_000377.3(WAS):c.388G>A (p.Asp130Asn)
|
rs1557006548
|
|
|
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
|
|
|
|
NM_000377.3(WAS):c.396C>T (p.Asp132=)
|
|
|
|
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
|
|
|
|
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)
|
rs797044476
|
|
|
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
|
|
|
|
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
|
|
|
|
NM_000377.3(WAS):c.405G>A (p.Gln135=)
|
|
|
|
NM_000377.3(WAS):c.412C>T (p.Arg138Trp)
|
rs1372273668
|
|
|
NM_000377.3(WAS):c.412dup (p.Arg138fs)
|
|
|
|
NM_000377.3(WAS):c.427_429del (p.Glu143del)
|
|
|
|
NM_000377.3(WAS):c.436del (p.Gln146fs)
|
rs2062417558
|
|
|
NM_000377.3(WAS):c.438A>G (p.Gln146=)
|
|
|
|
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
|
|
|
|
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
|
|
|
|
NM_000377.3(WAS):c.463+10C>T
|
|
|
|
NM_000377.3(WAS):c.463+12A>G
|
|
|
|
NM_000377.3(WAS):c.463+1G>A
|
|
|
|
NM_000377.3(WAS):c.464-13C>T
|
|
|
|
NM_000377.3(WAS):c.464-9T>C
|
|
|
|
NM_000377.3(WAS):c.466del (p.Arg156fs)
|
|
|
|
NM_000377.3(WAS):c.467G>C (p.Arg156Thr)
|
rs2062418154
|
|
|
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
|
|
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
|
NM_000377.3(WAS):c.470_471del (p.Arg157fs)
|
rs1602177562
|
|
|
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
|
|
|
|
NM_000377.3(WAS):c.482C>A (p.Pro161Gln)
|
rs1569493803
|
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
|
NM_000377.3(WAS):c.49G>T (p.Ala17Ser)
|
rs1569493673
|
|
|
NM_000377.3(WAS):c.505+10C>A
|
|
|
|
NM_000377.3(WAS):c.505+20T>C
|
|
|
|
NM_000377.3(WAS):c.505+4A>G
|
|
|
|
NM_000377.3(WAS):c.506-10A>G
|
|
|
|
NM_000377.3(WAS):c.506-15A>G
|
|
|
|
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
|
|
|
|
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
|
|
|
|
NM_000377.3(WAS):c.519G>T (p.Gly173=)
|
|
|
|
NM_000377.3(WAS):c.51G>A (p.Ala17=)
|
|
|
|
NM_000377.3(WAS):c.51G>C (p.Ala17=)
|
|
|
|
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
|
|
|
|
NM_000377.3(WAS):c.52G>A (p.Val18Ile)
|
rs1569493676
|
|
|
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
|
|
|
|
NM_000377.3(WAS):c.533C>T (p.Pro178Leu)
|
rs2062419034
|
|
|
NM_000377.3(WAS):c.539dup (p.His180fs)
|
rs2147264299
|
|
|
NM_000377.3(WAS):c.540T>C (p.His180=)
|
|
|
|
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
|
|
|
|
NM_000377.3(WAS):c.554A>T (p.Gln185Leu)
|
rs2147264325
|
|
|
NM_000377.3(WAS):c.559+14_559+32del
|
rs782477646
|
|
|
NM_000377.3(WAS):c.559+4C>T
|
|
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
|
NM_000377.3(WAS):c.559+6_559+13dup
|
|
|
|
NM_000377.3(WAS):c.559+8C>G
|
rs1602177756
|
|
|
NM_000377.3(WAS):c.560-4A>C
|
|
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
|
NM_000377.3(WAS):c.560-6C>T
|
|
|
|
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg)
|
rs1569493862
|
|
|
NM_000377.3(WAS):c.570G>A (p.Val190=)
|
|
|
|
NM_000377.3(WAS):c.576G>A (p.Pro192=)
|
|
|
|
NM_000377.3(WAS):c.579C>T (p.Leu193=)
|
|
|
|
NM_000377.3(WAS):c.585G>T (p.Leu195=)
|
|
|
|
NM_000377.3(WAS):c.588G>C (p.Gly196=)
|
|
|
|
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
|
|
|
|
NM_000377.3(WAS):c.601G>A (p.Asp201Asn)
|
rs2147264847
|
|
|
NM_000377.3(WAS):c.603C>T (p.Asp201=)
|
rs2062421636
|
|
|
NM_000377.3(WAS):c.606C>A (p.Ile202=)
|
|
|
|
NM_000377.3(WAS):c.618C>T (p.Asp206=)
|
|
|
|
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
|
|
|
|
NM_000377.3(WAS):c.624G>A (p.Thr208=)
|
rs2147264874
|
|
|
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
|
|
|
|
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)
|
rs1602178165
|
|
|
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
|
|
|
|
NM_000377.3(WAS):c.633A>G (p.Arg211=)
|
rs2147264887
|
|
|
NM_000377.3(WAS):c.638G>A (p.Arg213His)
|
|
|
|
NM_000377.3(WAS):c.642G>C (p.Gly214=)
|
|
|
|
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
|
|
|
|
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
|
|
|
|
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)
|
rs1602178184
|
|
|
NM_000377.3(WAS):c.663C>T (p.Ser221=)
|
|
|
|
NM_000377.3(WAS):c.669T>G (p.Ala223=)
|
rs928562174
|
|
|
NM_000377.3(WAS):c.675G>A (p.Lys225=)
|
|
|
|
NM_000377.3(WAS):c.687G>T (p.Gly229=)
|
|
|
|
NM_000377.3(WAS):c.689A>G (p.Lys230Arg)
|
rs1569493872
|
|
|
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del)
|
rs782409127
|
|
|
NM_000377.3(WAS):c.690G>A (p.Lys230=)
|
|
|
|
NM_000377.3(WAS):c.692del (p.Lys231fs)
|
rs2062422078
|
|
|
NM_000377.3(WAS):c.6T>C (p.Ser2=)
|
|
|
|
NM_000377.3(WAS):c.701del (p.Ser234fs)
|
|
|
|
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
|
|
|
|
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)
|
rs2062410722
|
|
|
NM_000377.3(WAS):c.723del (p.Ser242fs)
|
rs2147264981
|
|
|
NM_000377.3(WAS):c.726T>G (p.Ser242Arg)
|
rs947162120
|
|
|
NM_000377.3(WAS):c.734+1G>C
|
|
|
|
NM_000377.3(WAS):c.734+2T>A
|
rs1569493877
|
|
|
NM_000377.3(WAS):c.734+3G>A
|
|
|
|
NM_000377.3(WAS):c.735-10C>A
|
|
|
|
NM_000377.3(WAS):c.735-16_735-15insGT
|
|
|
|
NM_000377.3(WAS):c.735-2A>T
|
|
|
|
NM_000377.3(WAS):c.735-5C>T
|
|
|
|
NM_000377.3(WAS):c.744C>T (p.Ser248=)
|
|
|
|
NM_000377.3(WAS):c.747C>A (p.His249Gln)
|
|
|
|
NM_000377.3(WAS):c.747C>T (p.His249=)
|
|
|
|
NM_000377.3(WAS):c.753dup (p.Trp252fs)
|
rs2147265693
|
|
|
NM_000377.3(WAS):c.75C>T (p.Thr25=)
|
|
|
|
NM_000377.3(WAS):c.765G>C (p.Gln255His)
|
|
|
|
NM_000377.3(WAS):c.768T>C (p.Asn256=)
|
rs2147265705
|
|
|
NM_000377.3(WAS):c.777+11T>A
|
|
|
|
NM_000377.3(WAS):c.777+12del
|
|
|
|
NM_000377.3(WAS):c.777+17T>C
|
|
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
|
NM_000377.3(WAS):c.777+3_777+6del
|
rs2147265717
|
|
|
NM_000377.3(WAS):c.777+4A>C
|
|
|
|
NM_000377.3(WAS):c.777+6dup
|
rs2147265723
|
|
|
NM_000377.3(WAS):c.777C>T (p.Asp259=)
|
rs2147265709
|
|
|
NM_000377.3(WAS):c.778-11C>T
|
|
|
|
NM_000377.3(WAS):c.778-14T>C
|
|
|
|
NM_000377.3(WAS):c.778-6G>A
|
rs1557007011
|
|
|
NM_000377.3(WAS):c.778-8C>T
|
|
|
|
NM_000377.3(WAS):c.780G>A (p.Val260=)
|
rs2147265866
|
|
|
NM_000377.3(WAS):c.789C>T (p.Leu263=)
|
|
|
|
NM_000377.3(WAS):c.790G>A (p.Asp264Asn)
|
rs2147265872
|
|
|
NM_000377.3(WAS):c.795A>C (p.Pro265=)
|
|
|
|
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
|
|
|
|
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)
|
rs1602178952
|
|
|
NM_000377.3(WAS):c.805A>T (p.Ser269Cys)
|
rs2147265903
|
|
|
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)
|
rs132630274
|
|
|
NM_000377.3(WAS):c.810G>T (p.Leu270=)
|
|
|
|
NM_000377.3(WAS):c.814T>C (p.Ser272Pro)
|
rs387906716
|
|
|
NM_000377.3(WAS):c.819G>A (p.Arg273=)
|
|
|
|
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
|
|
|
|
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs)
|
rs2147265917
|
|
|
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
|
|
|
|
NM_000377.3(WAS):c.831C>T (p.Ser277=)
|
|
|
|
NM_000377.3(WAS):c.834G>A (p.Glu278=)
|
|
|
|
NM_000377.3(WAS):c.841C>A (p.Leu281Ile)
|
rs2147265956
|
|
|
NM_000377.3(WAS):c.846C>T (p.Thr282=)
|
|
|
|
NM_000377.3(WAS):c.852C>G (p.Ala284=)
|
|
|
|
NM_000377.3(WAS):c.858C>T (p.Thr286=)
|
rs2147266003
|
|
|
NM_000377.3(WAS):c.858del (p.Ser287fs)
|
rs1602179000
|
|
|
NM_000377.3(WAS):c.874G>A (p.Asp292Asn)
|
rs2062427019
|
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
|
NM_000377.3(WAS):c.88_90del (p.His30del)
|
|
|
|
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
|
|
|
|
NM_000377.3(WAS):c.919A>G (p.Met307Val)
|
|
|
|
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)
|
rs1557006239
|
|
|
NM_000377.3(WAS):c.925C>T (p.Arg309Cys)
|
rs1215457658
|
|
|
NM_000377.3(WAS):c.931+10T>A
|
|
|
|
NM_000377.3(WAS):c.931+14T>C
|
|
|
|
NM_000377.3(WAS):c.931+15C>T
|
|
|
|
NM_000377.3(WAS):c.931+19A>C
|
|
|
|
NM_000377.3(WAS):c.931+20C>A
|
rs782462041
|
|
|
NM_000377.3(WAS):c.931+20C>T
|
|
|
|
NM_000377.3(WAS):c.931+5G>C
|
|
|
|
NM_000377.3(WAS):c.931+7C>A
|
|
|
|
NM_000377.3(WAS):c.932-12C>A
|
|
|
|
NM_000377.3(WAS):c.932-12C>T
|
|
|
|
NM_000377.3(WAS):c.932-15A>G
|
|
|
|
NM_000377.3(WAS):c.932-18_932-17del
|
|
|
|
NM_000377.3(WAS):c.932-5C>T
|
|
|
|
NM_000377.3(WAS):c.932-9C>A
|
|
|
|
NM_000377.3(WAS):c.932-9_932-8dup
|
|
|
|
NM_000377.3(WAS):c.942G>A (p.Pro314=)
|
|
|
|
NM_000377.3(WAS):c.945G>A (p.Pro315=)
|
|
|
|
NM_000377.3(WAS):c.947C>A (p.Pro316His)
|
rs2147266241
|
|
|
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
|
|
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
|
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
|
|
|
|
NM_000377.3(WAS):c.969del (p.Asn324fs)
|
|
|
|
NM_000377.3(WAS):c.97C>G (p.Gln33Glu)
|
rs1569493682
|
|
|
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
|
|
|
|
NM_000377.3(WAS):c.987C>T (p.Pro329=)
|
|
|
|
NM_000377.3(WAS):c.991A>T (p.Ile331Phe)
|
rs2147266334
|
|
|
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
|
|
|
|
NM_000377.3(WAS):c.996G>C (p.Val332=)
|
|
|
|
NM_000377.3(WAS):c.996G>T (p.Val332=)
|
|
|
|
NM_000377.3(WAS):c.999G>C (p.Gly333=)
|
|
|
|
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
|
|
|
|
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
|
|
|
|
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
|
|
|
|
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
|
|
|
|
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
|
|
|
|
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
|
|
|
|
NM_000475.5(NR0B1):c.1042del (p.Glu348fs)
|
rs1926563553
|
|
|
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
|
|
|
|
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
|
|
|
|
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
|
|
|
|
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
|
|
|
|
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
|
|
|
|
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
|
|
|
|
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
|
|
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
|
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
|
|
|
|
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
|
|
|
|
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
|
|
|
|
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
|
|
|
|
NM_000475.5(NR0B1):c.1168+10C>G
|
|
|
|
NM_000475.5(NR0B1):c.1168+13dup
|
|
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
|
NM_000475.5(NR0B1):c.1168+1del
|
rs2147006209
|
|
|
NM_000475.5(NR0B1):c.1168+7G>T
|
|
|
|
NM_000475.5(NR0B1):c.1169-10C>T
|
|
|
|
NM_000475.5(NR0B1):c.1169-8C>A
|
|
|
|
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
|
|
|
|
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
|
|
|
|
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
|
|
|
|
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
|
|
|
|
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
|
|
|
|
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
|
|
|
|
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)
|
rs1569268070
|
|
|
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
|
|
|
|
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
|
|
|
|
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
|
|
|
|
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
|
|
|
|
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
|
|
|
|
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
|
|
|
|
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
|
|
|
|
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
|
|
|
|
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
|
|
|
|
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
|
|
|
|
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
|
|
|
|
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=)
|
rs2147004349
|
|
|
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
|
|
|
|
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
|
|
|
|
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
|
|
|
|
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
|
|
|
|
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
|
|
|
|
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
|
|
|
|
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
|
|
|
|
NM_000475.5(NR0B1):c.159dup (p.Leu54fs)
|
rs1926602170
|
|
|
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
|
|
|
|
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
|
|
|
|
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
|
|
|
|
NM_000475.5(NR0B1):c.18C>T (p.His6=)
|
|
|
|
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
|
|
|
|
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu)
|
rs1926600775
|
|
|
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
|
|
|
|
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
|
|
|
|
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
|
|
|
|
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
|
|
|
|
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
|
|
|
|
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter)
|
rs2147007353
|
|
|
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
|
|
|
|
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
|
|
|
|
NM_000475.5(NR0B1):c.237C>A (p.Ile79=)
|
rs2147007339
|
|
|
NM_000475.5(NR0B1):c.252G>C (p.Leu84=)
|
rs1192762456
|
|
|
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
|
|
|
|
NM_000475.5(NR0B1):c.255G>T (p.Thr85=)
|
rs759371222
|
|
|
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
|
|
|
|
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
|
|
|
|
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
|
|
|
|
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
|
|
|
|
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
|
|
|
|
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
|
|
|
|
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
|
|
|
|
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
|
|
|
|
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
|
|
|
|
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
|
|
|
|
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
|
|
|
|
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
|
|
|
|
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
|
|
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
|
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
|
|
|
|
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
|
|
|
|
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
|
|
|
|
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
|
|
|
|
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
|
|
|
|
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
|
|
|
|
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
|
|
|
|
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
|
|
|
|
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
|
|
|
|
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
|
|
|
|
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
|
|
|
|
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
|
|
|
|
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
|
|
|
|
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
|
|
|
|
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
|
|
|
|
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
|
|
|
|
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
|
|
|
|
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
|
|
|
|
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
|
|
|
|
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
|
|
|
|
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
|
|
|
|
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
|
|
|
|
NM_000475.5(NR0B1):c.471C>T (p.His157=)
|
|
|
|
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
|
|
|
|
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
|
|
|
|
NM_000475.5(NR0B1):c.501del (p.Gly169fs)
|
rs1569268976
|
|
|
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
|
|
|
|
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
|
|
|
|
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
|
|
|
|
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
|
|
|
|
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)
|
rs1555973131
|
|
|
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
|
|
|
|
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
|
|
|
|
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
|
|
|
|
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter)
|
rs767828388
|
|
|
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
|
|
|
|
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
|
|
|
|
NM_000475.5(NR0B1):c.552del (p.Glu185fs)
|
rs1555973115
|
|
|
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
|
|
|
|
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
|
|
|
|
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
|
|
|
|
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
|
|
|
|
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
|
|
|
|
NM_000475.5(NR0B1):c.582G>C (p.Ala194=)
|
rs1275730944
|
|
|
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
|
|
|
|
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
|
|
|
|
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
|
|
|
|
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
|
|
|
|
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
|
|
|
|
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
|
|
|
|
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
|
|
|
|
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
|
|
|
|
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
|
|
|
|
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
|
|
|
|
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
|
|
|
|
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
|
|
|
|
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
|
|
|
|
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
|
|
|
|
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
|
|
|
|
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
|
|
|
|
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
|
|
|
|
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
|
|
|
|
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
|
|
|
|
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
|
|
|
|
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
|
|
|
|
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
|
|
|
|
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
|
|
|
|
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
|
|
|
|
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
|
|
|
|
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
|
|
|
|
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
|
|
|
|
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
|
|
|
|
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
|
|
|
|
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
|
|
|
|
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
|
|
|
|
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg)
|
rs1926571373
|
|
|
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
|
|
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
|
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
|
|
|
|
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
|
|
|
|
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly)
|
rs1555973045
|
|
|
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
|
|
|
|
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
|
|
|
|
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
|
|
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
|
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
|
|
|
|
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
|
|
|
|
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
|
|
|
|
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
|
|
|
|
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)
|
rs1555973010
|
|
|
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
|
|
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
|
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
|
|
|
|
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
|
|
|
|
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
|
|
|
|
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
|
|
|
|
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
|
|
|
|
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
|
|
|
|
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
|
|
|
|
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
|
|
|
|
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
|
|
|
|
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
|
|
|
|
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
|
|
|
|
NM_000489.6(ATRX):c.1011C>T (p.Gly337=)
|
rs2148632537
|
|
|
NM_000489.6(ATRX):c.1013C>G (p.Ser338Cys)
|
|
|
|
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
|
|
|
|
NM_000489.6(ATRX):c.1024T>C (p.Ser342Pro)
|
|
|
|
NM_000489.6(ATRX):c.1029T>C (p.Tyr343=)
|
rs2148632087
|
|
|
NM_000489.6(ATRX):c.102TCC[1] (p.Pro36del)
|
|
|
|
NM_000489.6(ATRX):c.1036C>G (p.Leu346Val)
|
|
|
|
NM_000489.6(ATRX):c.1039A>G (p.Ile347Val)
|
rs2071426013
|
|
|
NM_000489.6(ATRX):c.1043T>C (p.Val348Ala)
|
rs975407914
|
|
|
NM_000489.6(ATRX):c.1044G>A (p.Val348=)
|
rs2148631701
|
|
|
NM_000489.6(ATRX):c.1044G>T (p.Val348=)
|
rs2148631701
|
|
|
NM_000489.6(ATRX):c.1050A>G (p.Lys350=)
|
|
|
|
NM_000489.6(ATRX):c.1057A>G (p.Ile353Val)
|
rs2071424254
|
|
|
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
|
|
|
|
NM_000489.6(ATRX):c.1068A>G (p.Ala356=)
|
rs2148631255
|
|
|
NM_000489.6(ATRX):c.1075C>G (p.Leu359Val)
|
rs2071423786
|
|
|
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
|
|
|
|
NM_000489.6(ATRX):c.1080T>A (p.Ile360=)
|
rs2071423086
|
|
|
NM_000489.6(ATRX):c.1080T>C (p.Ile360=)
|
|
|
|
NM_000489.6(ATRX):c.1086C>T (p.Thr362=)
|
|
|
|
NM_000489.6(ATRX):c.108A>G (p.Pro36=)
|
rs782048051
|
|
|
NM_000489.6(ATRX):c.1091C>G (p.Ala364Gly)
|
|
|
|
NM_000489.6(ATRX):c.1096A>G (p.Met366Val)
|
|
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
|
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
|
|
|
|
NM_000489.6(ATRX):c.1104C>T (p.Ser368=)
|
rs2148630427
|
|
|
NM_000489.6(ATRX):c.110G>T (p.Arg37Leu)
|
|
|
|
NM_000489.6(ATRX):c.1115A>C (p.Lys372Thr)
|
|
|
|
NM_000489.6(ATRX):c.1116A>G (p.Lys372=)
|
|
|
|
NM_000489.6(ATRX):c.1146A>G (p.Glu382=)
|
|
|
|
NM_000489.6(ATRX):c.1147A>G (p.Ile383Val)
|
rs2148629471
|
|
|
NM_000489.6(ATRX):c.1151G>C (p.Ser384Thr)
|
rs2071417426
|
|
|
NM_000489.6(ATRX):c.1159A>G (p.Thr387Ala)
|
rs1603225916
|
|
|
NM_000489.6(ATRX):c.1161A>C (p.Thr387=)
|
rs2148629135
|
|
|
NM_000489.6(ATRX):c.1161A>G (p.Thr387=)
|
rs2148629135
|
|
|
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
|
|
|
|
NM_000489.6(ATRX):c.1169G>C (p.Arg390Pro)
|
rs367986587
|
|
|
NM_000489.6(ATRX):c.1169G>T (p.Arg390Leu)
|
|
|
|
NM_000489.6(ATRX):c.116C>T (p.Ala39Val)
|
|
|
|
NM_000489.6(ATRX):c.1173G>A (p.Gln391=)
|
|
|
|
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)
|
rs2071415045
|
|
|
NM_000489.6(ATRX):c.1191T>A (p.Ser397=)
|
rs2148628553
|
|
|
NM_000489.6(ATRX):c.1195T>C (p.Leu399=)
|
rs1276570205
|
|
|
NM_000489.6(ATRX):c.1203T>C (p.Asp401=)
|
rs1557142168
|
|
|
NM_000489.6(ATRX):c.1212G>A (p.Lys404=)
|
|
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
|
NM_000489.6(ATRX):c.1216C>T (p.His406Tyr)
|
rs2148627971
|
|
|
NM_000489.6(ATRX):c.1218T>C (p.His406=)
|
|
|
|
NM_000489.6(ATRX):c.1225T>C (p.Leu409=)
|
rs1569539349
|
|
|
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
|
|
|
|
NM_000489.6(ATRX):c.1233A>T (p.Glu411Asp)
|
|
|
|
NM_000489.6(ATRX):c.1235A>G (p.Asp412Gly)
|
|
|
|
NM_000489.6(ATRX):c.1236C>G (p.Asp412Glu)
|
|
|
|
NM_000489.6(ATRX):c.1247A>C (p.Glu416Ala)
|
|
|
|
NM_000489.6(ATRX):c.1252C>G (p.Arg418Gly)
|
rs1057523785
|
|
|
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
|
|
|
|
NM_000489.6(ATRX):c.1264G>A (p.Ala422Thr)
|
rs1424850007
|
|
|
NM_000489.6(ATRX):c.1266T>C (p.Ala422=)
|
|
|
|
NM_000489.6(ATRX):c.1266T>G (p.Ala422=)
|
rs1557142003
|
|
|
NM_000489.6(ATRX):c.1267G>A (p.Val423Ile)
|
|
|
|
NM_000489.6(ATRX):c.1286C>G (p.Thr429Ser)
|
|
|
|
NM_000489.6(ATRX):c.1290A>G (p.Lys430=)
|
rs1569539312
|
|
|
NM_000489.6(ATRX):c.1290A>T (p.Lys430Asn)
|
|
|
|
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu)
|
rs898727479
|
|
|
NM_000489.6(ATRX):c.1302C>A (p.Val434=)
|
|
|
|
NM_000489.6(ATRX):c.1302C>T (p.Val434=)
|
|
|
|
NM_000489.6(ATRX):c.1310C>G (p.Ala437Gly)
|
|
|
|
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
|
|
|
|
NM_000489.6(ATRX):c.1321A>G (p.Thr441Ala)
|
|
|
|
NM_000489.6(ATRX):c.1322_1324del (p.Thr441del)
|
rs1569539303
|
|
|
NM_000489.6(ATRX):c.1323A>G (p.Thr441=)
|
rs2148625630
|
|
|
NM_000489.6(ATRX):c.1326A>G (p.Lys442=)
|
|
|
|
NM_000489.6(ATRX):c.133+20G>A
|
|
|
|
NM_000489.6(ATRX):c.134-12C>A
|
|
|
|
NM_000489.6(ATRX):c.134-13T>C
|
rs1392467229
|
|
|
NM_000489.6(ATRX):c.134-16A>G
|
|
|
|
NM_000489.6(ATRX):c.134-17T>C
|
|
|
|
NM_000489.6(ATRX):c.134-20_134-17del
|
|
|
|
NM_000489.6(ATRX):c.134-9C>A
|
rs782350220
|
|
|
NM_000489.6(ATRX):c.134-9C>T
|
rs782350220
|
|
|
NM_000489.6(ATRX):c.134-9_134-7del
|
rs2072322266
|
|
|
NM_000489.6(ATRX):c.1340A>T (p.Glu447Val)
|
rs2071404188
|
|
|
NM_000489.6(ATRX):c.1357G>A (p.Glu453Lys)
|
|
|
|
NM_000489.6(ATRX):c.1358A>G (p.Glu453Gly)
|
|
|
|
NM_000489.6(ATRX):c.135T>C (p.Asp45=)
|
rs2148685985
|
|
|
NM_000489.6(ATRX):c.1374A>C (p.Ser458=)
|
rs2148624322
|
|
|
NM_000489.6(ATRX):c.1379C>T (p.Ser460Leu)
|
|
|
|
NM_000489.6(ATRX):c.1380A>T (p.Ser460=)
|
|
|
|
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro)
|
rs201503118
|
|
|
NM_000489.6(ATRX):c.1387A>C (p.Lys463Gln)
|
|
|
|
NM_000489.6(ATRX):c.1392T>G (p.Leu464=)
|
|
|
|
NM_000489.6(ATRX):c.1394C>T (p.Ser465Leu)
|
|
|
|
NM_000489.6(ATRX):c.1402C>G (p.Gln468Glu)
|
|
|
|
NM_000489.6(ATRX):c.1404G>A (p.Gln468=)
|
|
|
|
NM_000489.6(ATRX):c.140T>C (p.Ile47Thr)
|
|
|
|
NM_000489.6(ATRX):c.1410T>C (p.Asp470=)
|
rs2071399261
|
|
|
NM_000489.6(ATRX):c.1415A>G (p.Glu472Gly)
|
|
|
|
NM_000489.6(ATRX):c.1416G>A (p.Glu472=)
|
|
|
|
NM_000489.6(ATRX):c.1419C>T (p.His473=)
|
|
|
|
NM_000489.6(ATRX):c.1428G>A (p.Gln476=)
|
|
|
|
NM_000489.6(ATRX):c.142A>G (p.Ser48Gly)
|
|
|
|
NM_000489.6(ATRX):c.142A>T (p.Ser48Cys)
|
rs1557151486
|
|
|
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
|
|
|
|
NM_000489.6(ATRX):c.1432G>A (p.Val478Ile)
|
|
|
|
NM_000489.6(ATRX):c.1435C>G (p.Pro479Ala)
|
|
|
|
NM_000489.6(ATRX):c.1437A>C (p.Pro479=)
|
|
|
|
NM_000489.6(ATRX):c.1440A>G (p.Thr480=)
|
rs2148622503
|
|
|
NM_000489.6(ATRX):c.1440A>T (p.Thr480=)
|
|
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
|
NM_000489.6(ATRX):c.1454C>G (p.Thr485Arg)
|
|
|
|
NM_000489.6(ATRX):c.1456A>G (p.Asn486Asp)
|
|
|
|
NM_000489.6(ATRX):c.1458T>C (p.Asn486=)
|
rs2148622068
|
|
|
NM_000489.6(ATRX):c.1469G>T (p.Gly490Val)
|
|
|
|
NM_000489.6(ATRX):c.1483A>C (p.Lys495Gln)
|
|
|
|
NM_000489.6(ATRX):c.1487C>G (p.Ser496Cys)
|
|
|
|
NM_000489.6(ATRX):c.1493G>A (p.Arg498Lys)
|
rs2071391273
|
|
|
NM_000489.6(ATRX):c.1495A>G (p.Lys499Glu)
|
|
|
|
NM_000489.6(ATRX):c.1496A>G (p.Lys499Arg)
|
|
|
|
NM_000489.6(ATRX):c.1504C>A (p.Pro502Thr)
|
|
|
|
NM_000489.6(ATRX):c.1509A>G (p.Gln503=)
|
rs1039587651
|
|
|
NM_000489.6(ATRX):c.1509A>T (p.Gln503His)
|
rs1039587651
|
|
|
NM_000489.6(ATRX):c.1514A>G (p.Glu505Gly)
|
|
|
|
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser)
|
rs1449091873
|
|
|
NM_000489.6(ATRX):c.1522A>C (p.Asn508His)
|
rs398123421
|
|
|
NM_000489.6(ATRX):c.1525A>C (p.Thr509Pro)
|
|
|
|
NM_000489.6(ATRX):c.1536T>C (p.Asp512=)
|
rs2148620275
|
|
|
NM_000489.6(ATRX):c.1543A>G (p.Met515Val)
|
|
|
|
NM_000489.6(ATRX):c.1554G>A (p.Val518=)
|
rs2148619900
|
|
|
NM_000489.6(ATRX):c.1555T>G (p.Ser519Ala)
|
|
|
|
NM_000489.6(ATRX):c.1556C>G (p.Ser519Cys)
|
|
|
|
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
|
|
|
|
NM_000489.6(ATRX):c.1574C>G (p.Pro525Arg)
|
|
|
|
NM_000489.6(ATRX):c.1581C>G (p.Asp527Glu)
|
|
|
|
NM_000489.6(ATRX):c.1581C>T (p.Asp527=)
|
rs782673700
|
|
|
NM_000489.6(ATRX):c.158del (p.Asn53fs)
|
rs2148685852
|
|
|
NM_000489.6(ATRX):c.1596T>G (p.Leu532=)
|
|
|
|
NM_000489.6(ATRX):c.1598A>T (p.Glu533Val)
|
|
|
|
NM_000489.6(ATRX):c.15C>G (p.Pro5=)
|
rs1557207602
|
|
|
NM_000489.6(ATRX):c.160T>A (p.Ser54Thr)
|
rs2072320573
|
|
|
NM_000489.6(ATRX):c.1610A>G (p.Glu537Gly)
|
|
|
|
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
|
|
|
|
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
|
|
|
|
NM_000489.6(ATRX):c.1639G>A (p.Asp547Asn)
|
|
|
|
NM_000489.6(ATRX):c.1643G>A (p.Gly548Asp)
|
|
|
|
NM_000489.6(ATRX):c.1656T>C (p.Thr552=)
|
rs781971866
|
|
|
NM_000489.6(ATRX):c.1662A>G (p.Gln554=)
|
rs2148617521
|
|
|
NM_000489.6(ATRX):c.1665A>G (p.Glu555=)
|
|
|
|
NM_000489.6(ATRX):c.1674T>A (p.Ser558Arg)
|
rs1569539199
|
|
|
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu)
|
rs1060499760
|
|
|
NM_000489.6(ATRX):c.1677A>G (p.Ser559=)
|
rs782560764
|
|
|
NM_000489.6(ATRX):c.1678T>C (p.Ser560Pro)
|
|
|
|
NM_000489.6(ATRX):c.167T>A (p.Met56Lys)
|
rs782553856
|
|
|
NM_000489.6(ATRX):c.1693A>G (p.Ile565Val)
|
|
|
|
NM_000489.6(ATRX):c.1694T>G (p.Ile565Ser)
|
rs1557140924
|
|
|
NM_000489.6(ATRX):c.1698T>C (p.Ser566=)
|
|
|
|
NM_000489.6(ATRX):c.1702A>G (p.Lys568Glu)
|
|
|
|
NM_000489.6(ATRX):c.1706A>G (p.Asp569Gly)
|
|
|
|
NM_000489.6(ATRX):c.1713A>G (p.Arg571=)
|
|
|
|
NM_000489.6(ATRX):c.1719T>C (p.Gly573=)
|
|
|
|
NM_000489.6(ATRX):c.1722T>G (p.Ile574Met)
|
rs2071372568
|
|
|
NM_000489.6(ATRX):c.1725A>G (p.Lys575=)
|
rs2148616095
|
|
|
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter)
|
rs2071372283
|
|
|
NM_000489.6(ATRX):c.1728A>G (p.Ser576=)
|
rs2148616057
|
|
|
NM_000489.6(ATRX):c.1731A>G (p.Lys577=)
|
|
|
|
NM_000489.6(ATRX):c.1734T>C (p.Thr578=)
|
|
|
|
NM_000489.6(ATRX):c.1737A>T (p.Thr579=)
|
rs2148615862
|
|
|
NM_000489.6(ATRX):c.1741A>C (p.Lys581Gln)
|
|
|
|
NM_000489.6(ATRX):c.1744G>T (p.Val582Leu)
|
|
|
|
NM_000489.6(ATRX):c.1760A>G (p.Tyr587Cys)
|
|
|
|
NM_000489.6(ATRX):c.1772C>G (p.Thr591Ser)
|
|
|
|
NM_000489.6(ATRX):c.1772C>T (p.Thr591Ile)
|
|
|
|
NM_000489.6(ATRX):c.1781C>G (p.Ser594Cys)
|
rs782774889
|
|
|
NM_000489.6(ATRX):c.1789A>G (p.Asn597Asp)
|
|
|
|
NM_000489.6(ATRX):c.1794C>G (p.Ser598=)
|
|
|
|
NM_000489.6(ATRX):c.1809T>C (p.Ala603=)
|
|
|
|
NM_000489.6(ATRX):c.180C>T (p.Ser60=)
|
rs2072319089
|
|
|
NM_000489.6(ATRX):c.1810G>C (p.Asp604His)
|
|
|
|
NM_000489.6(ATRX):c.1818G>A (p.Gln606=)
|
|
|
|
NM_000489.6(ATRX):c.1827A>G (p.Pro609=)
|
rs1603222884
|
|
|
NM_000489.6(ATRX):c.182A>G (p.Lys61Arg)
|
|
|
|
NM_000489.6(ATRX):c.1833T>C (p.Asp611=)
|
rs2148613876
|
|
|
NM_000489.6(ATRX):c.183G>A (p.Lys61=)
|
|
|
|
NM_000489.6(ATRX):c.1842C>T (p.Gly614=)
|
rs2071364653
|
|
|
NM_000489.6(ATRX):c.1844A>G (p.Tyr615Cys)
|
rs782184873
|
|
|
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu)
|
rs2071363928
|
|
|
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
|
|
|
|
NM_000489.6(ATRX):c.1860G>A (p.Leu620=)
|
rs2148613217
|
|
|
NM_000489.6(ATRX):c.1865C>G (p.Pro622Arg)
|
|
|
|
NM_000489.6(ATRX):c.1865C>T (p.Pro622Leu)
|
|
|
|
NM_000489.6(ATRX):c.1878A>G (p.Lys626=)
|
rs1557140595
|
|
|
NM_000489.6(ATRX):c.189+12T>C
|
|
|
|
NM_000489.6(ATRX):c.189+5G>A
|
rs2072317981
|
|
|
NM_000489.6(ATRX):c.189+7A>T
|
|
|
|
NM_000489.6(ATRX):c.1890A>G (p.Gly630=)
|
rs782466655
|
|
|
NM_000489.6(ATRX):c.190-13G>A
|
|
|
|
NM_000489.6(ATRX):c.190-17T>G
|
|
|
|
NM_000489.6(ATRX):c.190-8A>C
|
rs1603245074
|
|
|
NM_000489.6(ATRX):c.1901G>C (p.Ser634Thr)
|
|
|
|
NM_000489.6(ATRX):c.1902T>C (p.Ser634=)
|
rs782229362
|
|
|
NM_000489.6(ATRX):c.1904_1918del (p.Asp635_Leu639del)
|
rs2071359110
|
|
|
NM_000489.6(ATRX):c.1908T>C (p.Asn636=)
|
|
|
|
NM_000489.6(ATRX):c.1910A>G (p.Glu637Gly)
|
rs2071360128
|
|
|
NM_000489.6(ATRX):c.1911G>A (p.Glu637=)
|
|
|
|
NM_000489.6(ATRX):c.1911G>C (p.Glu637Asp)
|
|
|
|
NM_000489.6(ATRX):c.1914T>C (p.His638=)
|
|
|
|
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
|
|
|
|
NM_000489.6(ATRX):c.1917G>A (p.Leu639=)
|
|
|
|
NM_000489.6(ATRX):c.1923A>G (p.Glu641=)
|
|
|
|
NM_000489.6(ATRX):c.1929A>G (p.Glu643=)
|
|
|
|
NM_000489.6(ATRX):c.1932T>G (p.Val644=)
|
|
|
|
NM_000489.6(ATRX):c.1938A>G (p.Leu646=)
|
rs2148611303
|
|
|
NM_000489.6(ATRX):c.1939C>A (p.Leu647Ile)
|
|
|
|
NM_000489.6(ATRX):c.1948G>C (p.Glu650Gln)
|
|
|
|
NM_000489.6(ATRX):c.194C>A (p.Thr65Asn)
|
|
|
|
NM_000489.6(ATRX):c.195_196insGTG (p.Thr65_Ser66insVal)
|
|
|
|
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter)
|
rs1557140492
|
|
|
NM_000489.6(ATRX):c.1961G>A (p.Arg654Gln)
|
|
|
|
NM_000489.6(ATRX):c.1965A>G (p.Arg655=)
|
|
|
|
NM_000489.6(ATRX):c.1968C>G (p.Ser656=)
|
rs2148610400
|
|
|
NM_000489.6(ATRX):c.1968C>T (p.Ser656=)
|
rs2148610400
|
|
|
NM_000489.6(ATRX):c.1972C>T (p.Arg658Cys)
|
|
|
|
NM_000489.6(ATRX):c.1973G>A (p.Arg658His)
|
rs2148610304
|
|
|
NM_000489.6(ATRX):c.1974T>G (p.Arg658=)
|
rs1603222314
|
|
|
NM_000489.6(ATRX):c.1975G>A (p.Val659Ile)
|
rs2148610218
|
|
|
NM_000489.6(ATRX):c.1977A>G (p.Val659=)
|
|
|
|
NM_000489.6(ATRX):c.1980G>A (p.Lys660=)
|
rs2148610085
|
|
|
NM_000489.6(ATRX):c.1986A>G (p.Thr662=)
|
rs2148609958
|
|
|
NM_000489.6(ATRX):c.1992G>A (p.Leu664=)
|
rs2148609791
|
|
|
NM_000489.6(ATRX):c.1997G>A (p.Arg666Gln)
|
|
|
|
NM_000489.6(ATRX):c.1999C>T (p.Pro667Ser)
|
|
|
|
NM_000489.6(ATRX):c.1A>G (p.Met1Val)
|
rs2076735328
|
|
|
NM_000489.6(ATRX):c.20+11A>G
|
|
|
|
NM_000489.6(ATRX):c.20+12C>T
|
|
|
|
NM_000489.6(ATRX):c.20+15C>A
|
|
|
|
NM_000489.6(ATRX):c.20+20C>T
|
|
|
|
NM_000489.6(ATRX):c.20+7C>T
|
rs2148994978
|
|
|
NM_000489.6(ATRX):c.2001G>C (p.Pro667=)
|
rs139997330
|
|
|
NM_000489.6(ATRX):c.2002A>C (p.Thr668Pro)
|
|
|
|
NM_000489.6(ATRX):c.2005G>C (p.Glu669Gln)
|
|
|
|
NM_000489.6(ATRX):c.2019A>G (p.Val673=)
|
|
|
|
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
|
|
|
|
NM_000489.6(ATRX):c.2032G>A (p.Asp678Asn)
|
|
|
|
NM_000489.6(ATRX):c.2040A>G (p.Glu680=)
|
|
|
|
NM_000489.6(ATRX):c.204A>G (p.Ser68=)
|
rs2072255187
|
|
|
NM_000489.6(ATRX):c.2058G>A (p.Lys686=)
|
|
|
|
NM_000489.6(ATRX):c.2082A>T (p.Pro694=)
|
|
|
|
NM_000489.6(ATRX):c.2085G>A (p.Val695=)
|
|
|
|
NM_000489.6(ATRX):c.2085G>C (p.Val695=)
|
rs2148607292
|
|
|
NM_000489.6(ATRX):c.21-10G>A
|
|
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
|
NM_000489.6(ATRX):c.2120C>G (p.Ala707Gly)
|
|
|
|
NM_000489.6(ATRX):c.2124A>G (p.Ile708Met)
|
|
|
|
NM_000489.6(ATRX):c.212C>T (p.Ser71Phe)
|
|
|
|
NM_000489.6(ATRX):c.2136G>A (p.Lys712=)
|
rs2071344638
|
|
|
NM_000489.6(ATRX):c.2136G>C (p.Lys712Asn)
|
rs2071344638
|
|
|
NM_000489.6(ATRX):c.2144_2145delinsCT (p.Lys715Thr)
|
rs1603221650
|
|
|
NM_000489.6(ATRX):c.215A>T (p.Lys72Met)
|
|
|
|
NM_000489.6(ATRX):c.2160G>A (p.Lys720=)
|
|
|
|
NM_000489.6(ATRX):c.2166A>G (p.Ser722=)
|
rs2148605269
|
|
|
NM_000489.6(ATRX):c.2169G>A (p.Glu723=)
|
|
|
|
NM_000489.6(ATRX):c.2169G>T (p.Glu723Asp)
|
|
|
|
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
|
|
|
|
NM_000489.6(ATRX):c.216G>A (p.Lys72=)
|
rs2148681410
|
|
|
NM_000489.6(ATRX):c.2172T>C (p.Thr724=)
|
|
|
|
NM_000489.6(ATRX):c.2173G>C (p.Val725Leu)
|
rs2071341824
|
|
|
NM_000489.6(ATRX):c.2184T>C (p.Asn728=)
|
|
|
|
NM_000489.6(ATRX):c.2191T>C (p.Ser731Pro)
|
rs2071340254
|
|
|
NM_000489.6(ATRX):c.2200A>G (p.Met734Val)
|
rs2071339556
|
|
|
NM_000489.6(ATRX):c.2202G>T (p.Met734Ile)
|
|
|
|
NM_000489.6(ATRX):c.2206G>A (p.Ala736Thr)
|
|
|
|
NM_000489.6(ATRX):c.2214C>G (p.Leu738=)
|
|
|
|
NM_000489.6(ATRX):c.2218G>A (p.Glu740Lys)
|
|
|
|
NM_000489.6(ATRX):c.2218G>C (p.Glu740Gln)
|
rs782341193
|
|
|
NM_000489.6(ATRX):c.2220G>A (p.Glu740=)
|
|
|
|
NM_000489.6(ATRX):c.2234G>A (p.Ser745Asn)
|
rs782685015
|
|
|
NM_000489.6(ATRX):c.2234G>C (p.Ser745Thr)
|
rs782685015
|
|
|
NM_000489.6(ATRX):c.2241T>C (p.Ser747=)
|
rs1603221262
|
|
|
NM_000489.6(ATRX):c.2241TTC[2] (p.Ser750del)
|
rs1297294136
|
|
|
NM_000489.6(ATRX):c.2243C>G (p.Ser748Cys)
|
|
|
|
NM_000489.6(ATRX):c.2249C>T (p.Ser750Leu)
|
|
|
|
NM_000489.6(ATRX):c.2253T>C (p.Asp751=)
|
rs2071332682
|
|
|
NM_000489.6(ATRX):c.2257G>A (p.Asp753Asn)
|
|
|
|
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met)
|
rs1557140015
|
|
|
NM_000489.6(ATRX):c.2263A>G (p.Asn755Asp)
|
|
|
|
NM_000489.6(ATRX):c.2265T>G (p.Asn755Lys)
|
|
|
|
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
|
|
|
|
NM_000489.6(ATRX):c.2277A>G (p.Thr759=)
|
rs2148602323
|
|
|
NM_000489.6(ATRX):c.2279A>C (p.Asn760Thr)
|
|
|
|
NM_000489.6(ATRX):c.2280C>A (p.Asn760Lys)
|
rs2148602163
|
|
|
NM_000489.6(ATRX):c.2282A>G (p.His761Arg)
|
|
|
|
NM_000489.6(ATRX):c.2283T>C (p.His761=)
|
rs2148602060
|
|
|
NM_000489.6(ATRX):c.2286G>C (p.Lys762Asn)
|
|
|
|
NM_000489.6(ATRX):c.2289T>C (p.Thr763=)
|
|
|
|
NM_000489.6(ATRX):c.2293T>C (p.Tyr765His)
|
rs2071326352
|
|
|
NM_000489.6(ATRX):c.2304G>C (p.Lys768Asn)
|
rs1557139920
|
|
|
NM_000489.6(ATRX):c.2305A>G (p.Thr769Ala)
|
|
|
|
NM_000489.6(ATRX):c.2310G>C (p.Gln770His)
|
|
|
|
NM_000489.6(ATRX):c.2312C>A (p.Ala771Glu)
|
rs376906761
|
|
|
NM_000489.6(ATRX):c.2316G>T (p.Gly772=)
|
rs1187990991
|
|
|
NM_000489.6(ATRX):c.2319A>G (p.Lys773=)
|
rs2148600893
|
|
|
NM_000489.6(ATRX):c.2320G>C (p.Asp774His)
|
rs1557139871
|
|
|
NM_000489.6(ATRX):c.2323G>C (p.Asp775His)
|
rs2071322741
|
|
|
NM_000489.6(ATRX):c.2325T>C (p.Asp775=)
|
rs2148600693
|
|
|
NM_000489.6(ATRX):c.2334A>G (p.Lys778=)
|
|
|
|
NM_000489.6(ATRX):c.2340A>G (p.Lys780=)
|
rs1603220796
|
|
|
NM_000489.6(ATRX):c.2342G>A (p.Arg781Gln)
|
rs1603220762
|
|
|
NM_000489.6(ATRX):c.2345A>T (p.Lys782Ile)
|
rs781957333
|
|
|
NM_000489.6(ATRX):c.2355A>C (p.Thr785=)
|
|
|
|
NM_000489.6(ATRX):c.2355A>G (p.Thr785=)
|
|
|
|
NM_000489.6(ATRX):c.2361C>A (p.Gly787=)
|
rs2148599810
|
|
|
NM_000489.6(ATRX):c.2377A>G (p.Lys793Glu)
|
|
|
|
NM_000489.6(ATRX):c.2379A>T (p.Lys793Asn)
|
|
|
|
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)
|
rs1603220590
|
|
|
NM_000489.6(ATRX):c.2391A>T (p.Ser797=)
|
rs2148599103
|
|
|
NM_000489.6(ATRX):c.2400C>G (p.Ser800Arg)
|
|
|
|
NM_000489.6(ATRX):c.2401T>C (p.Ser801Pro)
|
|
|
|
NM_000489.6(ATRX):c.2404A>G (p.Ile802Val)
|
|
|
|
NM_000489.6(ATRX):c.2416A>C (p.Lys806Gln)
|
|
|
|
NM_000489.6(ATRX):c.242+10T>C
|
|
|
|
NM_000489.6(ATRX):c.242+18G>A
|
|
|
|
NM_000489.6(ATRX):c.242+9A>C
|
rs371441206
|
|
|
NM_000489.6(ATRX):c.2421A>G (p.Lys807=)
|
|
|
|
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn)
|
rs2148598084
|
|
|
NM_000489.6(ATRX):c.243-17A>G
|
|
|
|
NM_000489.6(ATRX):c.243-8dup
|
rs1569540561
|
|
|
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
|
|
|
|
NM_000489.6(ATRX):c.2441C>G (p.Ser814Cys)
|
|
|
|
NM_000489.6(ATRX):c.2442T>G (p.Ser814=)
|
rs1603220311
|
|
|
NM_000489.6(ATRX):c.2448T>C (p.Asn816=)
|
rs2148597542
|
|
|
NM_000489.6(ATRX):c.2451T>C (p.Tyr817=)
|
|
|
|
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del)
|
rs781862926
|
|
|
NM_000489.6(ATRX):c.2466A>C (p.Glu822Asp)
|
|
|
|
NM_000489.6(ATRX):c.2470G>C (p.Glu824Gln)
|
rs2071304603
|
|
|
NM_000489.6(ATRX):c.2473A>T (p.Ile825Leu)
|
|
|
|
NM_000489.6(ATRX):c.2478G>C (p.Lys826Asn)
|
|
|
|
NM_000489.6(ATRX):c.2492T>C (p.Ile831Thr)
|
rs1603220048
|
|
|
NM_000489.6(ATRX):c.2493T>C (p.Ile831=)
|
|
|
|
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
|
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NM_000489.6(ATRX):c.2496T>C (p.Gly832=)
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rs2148596137
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NM_000489.6(ATRX):c.2498C>T (p.Ala833Val)
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NM_000489.6(ATRX):c.249T>G (p.Pro83=)
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NM_000489.6(ATRX):c.24A>C (p.Glu8Asp)
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rs2148752831
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NM_000489.6(ATRX):c.24A>G (p.Glu8=)
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NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn)
|
rs1603219919
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NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
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NM_000489.6(ATRX):c.2519G>C (p.Arg840Thr)
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NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile)
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NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
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NM_000489.6(ATRX):c.2526A>G (p.Pro842=)
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NM_000489.6(ATRX):c.252A>C (p.Ser84=)
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rs2148677928
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NM_000489.6(ATRX):c.252A>G (p.Ser84=)
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rs2148677928
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NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
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NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
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NM_000489.6(ATRX):c.2547T>C (p.Ser849=)
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rs2148594824
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NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
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NM_000489.6(ATRX):c.2550T>C (p.Ser850=)
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NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
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NM_000489.6(ATRX):c.2565C>T (p.His855=)
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rs2148594303
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NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
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NM_000489.6(ATRX):c.2574A>T (p.Lys858Asn)
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NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg)
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NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
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NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
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NM_000489.6(ATRX):c.2591G>T (p.Gly864Val)
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rs2148593605
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NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
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rs782526944
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NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
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rs61752455
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NM_000489.6(ATRX):c.2595C>T (p.His865=)
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rs61752455
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NM_000489.6(ATRX):c.2601T>C (p.Asn867=)
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NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe)
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rs781808505
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NM_000489.6(ATRX):c.2610C>G (p.Thr870=)
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rs782743152
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NM_000489.6(ATRX):c.2610C>T (p.Thr870=)
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NM_000489.6(ATRX):c.2616A>G (p.Gln872=)
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NM_000489.6(ATRX):c.261A>C (p.Thr87=)
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NM_000489.6(ATRX):c.2625A>G (p.Ser875=)
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NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
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NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
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rs2071285505
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NM_000489.6(ATRX):c.2640A>G (p.Glu880=)
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rs2148592348
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NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
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NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys)
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rs868926015
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NM_000489.6(ATRX):c.264G>A (p.Lys88=)
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rs782056075
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NM_000489.6(ATRX):c.2653A>C (p.Arg885=)
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rs1603219083
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NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
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rs2071282891
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NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
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NM_000489.6(ATRX):c.2664C>T (p.Phe888=)
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NM_000489.6(ATRX):c.2667T>G (p.Ser889=)
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NM_000489.6(ATRX):c.2673A>G (p.Ala891=)
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rs2148591602
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NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys)
|
rs1603218994
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NM_000489.6(ATRX):c.2677G>C (p.Gly893Arg)
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NM_000489.6(ATRX):c.2678dup (p.Thr894fs)
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rs2148591494
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NM_000489.6(ATRX):c.267T>C (p.Tyr89=)
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rs2148677803
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NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile)
|
rs2148591370
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NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
|
rs2071279824
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NM_000489.6(ATRX):c.2688T>C (p.Asp896=)
|
rs2148591201
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NM_000489.6(ATRX):c.2691A>C (p.Lys897Asn)
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NM_000489.6(ATRX):c.2694C>T (p.Asp898=)
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NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys)
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rs782757975
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NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
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NM_000489.6(ATRX):c.2703C>T (p.Ile901=)
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rs2148590818
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NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
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NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
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NM_000489.6(ATRX):c.2721A>G (p.Arg907=)
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NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
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NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
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NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala)
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rs1603218619
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NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
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NM_000489.6(ATRX):c.2769G>A (p.Lys923=)
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rs2148589245
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NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile)
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rs1569538903
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NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)
|
rs2071271385
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NM_000489.6(ATRX):c.2783A>G (p.Glu928Gly)
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NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr)
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rs727503817
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NM_000489.6(ATRX):c.2796T>C (p.Thr932=)
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rs2071269397
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NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
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NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
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NM_000489.6(ATRX):c.2806G>T (p.Val936Phe)
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rs149232501
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NM_000489.6(ATRX):c.2812A>G (p.Lys938Glu)
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NM_000489.6(ATRX):c.2814A>G (p.Lys938=)
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NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr)
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rs2148588122
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NM_000489.6(ATRX):c.2819C>T (p.Ala940Val)
|
rs2071267970
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NM_000489.6(ATRX):c.2829A>G (p.Lys943=)
|
rs2148587852
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NM_000489.6(ATRX):c.2830G>C (p.Glu944Gln)
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NM_000489.6(ATRX):c.2830_2832del (p.Glu944del)
|
rs1338172022
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NM_000489.6(ATRX):c.2837G>T (p.Ser946Ile)
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NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg)
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rs2071266406
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NM_000489.6(ATRX):c.2853C>T (p.Thr951=)
|
rs2148587341
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NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)
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NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
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NM_000489.6(ATRX):c.2866_2868del (p.Lys956del)
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rs782077612
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NM_000489.6(ATRX):c.2870T>C (p.Val957Ala)
|
rs2148587031
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NM_000489.6(ATRX):c.2874G>A (p.Gln958=)
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NM_000489.6(ATRX):c.2876A>G (p.Asp959Gly)
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NM_000489.6(ATRX):c.2877T>C (p.Asp959=)
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rs2148586813
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NM_000489.6(ATRX):c.2883A>G (p.Leu961=)
|
rs2148586654
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NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro)
|
rs2148586632
|
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NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
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NM_000489.6(ATRX):c.2898G>A (p.Glu966=)
|
rs138256318
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NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro)
|
rs2071260958
|
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NM_000489.6(ATRX):c.2907A>G (p.Leu969=)
|
rs782330959
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NM_000489.6(ATRX):c.2910G>A (p.Lys970=)
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NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg)
|
rs2148585851
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NM_000489.6(ATRX):c.2928A>G (p.Glu976=)
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NM_000489.6(ATRX):c.2934T>C (p.Ser978=)
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NM_000489.6(ATRX):c.2935G>C (p.Glu979Gln)
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NM_000489.6(ATRX):c.2939A>G (p.Asp980Gly)
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NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly)
|
rs2071258052
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NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu)
|
rs2071255335
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NM_000489.6(ATRX):c.2961G>A (p.Lys987=)
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NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
|
rs2071254827
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NM_000489.6(ATRX):c.2970A>G (p.Glu990=)
|
rs782253066
|
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NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys)
|
rs782574426
|
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NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)
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NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
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NM_000489.6(ATRX):c.2973A>G (p.Glu991=)
|
rs2148584456
|
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NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu)
|
rs2148584437
|
|
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NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
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|
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NM_000489.6(ATRX):c.2988A>G (p.Ser996=)
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NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
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NM_000489.6(ATRX):c.2991C>T (p.Asp997=)
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NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln)
|
rs2148583946
|
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NM_000489.6(ATRX):c.3003A>C (p.Lys1001Asn)
|
rs782295266
|
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NM_000489.6(ATRX):c.3003A>G (p.Lys1001=)
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|
NM_000489.6(ATRX):c.300T>C (p.Asp100=)
|
rs1603243650
|
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NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
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|
NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)
|
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|
NM_000489.6(ATRX):c.3018A>G (p.Glu1006=)
|
rs2148583558
|
|
|
NM_000489.6(ATRX):c.3028G>A (p.Glu1010Lys)
|
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NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
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NM_000489.6(ATRX):c.3048T>C (p.Thr1016=)
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|
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=)
|
rs2071246611
|
|
|
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
|
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NM_000489.6(ATRX):c.3066A>G (p.Arg1022=)
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NM_000489.6(ATRX):c.306T>G (p.Thr102=)
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NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
|
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|
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met)
|
rs2148582142
|
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|
NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu)
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NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
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NM_000489.6(ATRX):c.3090G>C (p.Lys1030Asn)
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NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
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NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
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NM_000489.6(ATRX):c.3108G>A (p.Lys1036=)
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NM_000489.6(ATRX):c.3111T>C (p.Asn1037=)
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NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
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NM_000489.6(ATRX):c.3120T>G (p.Thr1040=)
|
rs2148581284
|
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|
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
|
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NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
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|
NM_000489.6(ATRX):c.3137_3145del (p.Ser1046_Lys1048del)
|
rs781799810
|
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|
NM_000489.6(ATRX):c.3145A>G (p.Ile1049Val)
|
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|
NM_000489.6(ATRX):c.3146T>C (p.Ile1049Thr)
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NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)
|
rs1557138081
|
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|
NM_000489.6(ATRX):c.3153T>C (p.Asp1051=)
|
rs1453641319
|
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|
NM_000489.6(ATRX):c.3166A>G (p.Lys1056Glu)
|
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|
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met)
|
rs2071238285
|
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|
NM_000489.6(ATRX):c.3173A>G (p.Asp1058Gly)
|
|
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|
NM_000489.6(ATRX):c.3178T>C (p.Leu1060=)
|
rs2148580080
|
|
|
NM_000489.6(ATRX):c.3180A>G (p.Leu1060=)
|
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|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
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|
|
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
|
rs2071236443
|
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|
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
|
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|
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
|
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|
NM_000489.6(ATRX):c.320C>T (p.Ala107Val)
|
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|
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
|
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|
NM_000489.6(ATRX):c.3219T>C (p.Ser1073=)
|
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|
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
|
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|
NM_000489.6(ATRX):c.3226T>G (p.Ser1076Ala)
|
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|
NM_000489.6(ATRX):c.3231A>G (p.Ser1077=)
|
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|
NM_000489.6(ATRX):c.3234G>A (p.Glu1078=)
|
|
|
|
NM_000489.6(ATRX):c.3236A>T (p.Asp1079Val)
|
|
|
|
NM_000489.6(ATRX):c.3258A>T (p.Ala1086=)
|
|
|
|
NM_000489.6(ATRX):c.3262G>A (p.Gly1088Ser)
|
|
|
|
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
|
|
|
|
NM_000489.6(ATRX):c.3266_3274del (p.Arg1089_Lys1091del)
|
|
|
|
NM_000489.6(ATRX):c.3267A>G (p.Arg1089=)
|
|
|
|
NM_000489.6(ATRX):c.3273G>A (p.Lys1091=)
|
rs2148577440
|
|
|
NM_000489.6(ATRX):c.3278G>T (p.Arg1093Met)
|
|
|
|
NM_000489.6(ATRX):c.3286T>C (p.Leu1096=)
|
|
|
|
NM_000489.6(ATRX):c.3288G>A (p.Leu1096=)
|
rs2148577039
|
|
|
NM_000489.6(ATRX):c.3289C>T (p.Leu1097Phe)
|
|
|
|
NM_000489.6(ATRX):c.3291T>G (p.Leu1097=)
|
|
|
|
NM_000489.6(ATRX):c.3294A>G (p.Gly1098=)
|
|
|
|
NM_000489.6(ATRX):c.3317A>G (p.Asp1106Gly)
|
|
|
|
NM_000489.6(ATRX):c.3324A>G (p.Ser1108=)
|
rs2148576136
|
|
|
NM_000489.6(ATRX):c.3324ATC[1] (p.Ser1110del)
|
|
|
|
NM_000489.6(ATRX):c.3327A>T (p.Ser1109=)
|
|
|
|
NM_000489.6(ATRX):c.3336T>A (p.Thr1112=)
|
rs2071225400
|
|
|
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)
|
rs1569538741
|
|
|
NM_000489.6(ATRX):c.3350T>C (p.Met1117Thr)
|
|
|
|
NM_000489.6(ATRX):c.3354A>G (p.Lys1118=)
|
|
|
|
NM_000489.6(ATRX):c.3357A>C (p.Glu1119Asp)
|
|
|
|
NM_000489.6(ATRX):c.3358G>T (p.Asp1120Tyr)
|
rs1557137601
|
|
|
NM_000489.6(ATRX):c.3359A>T (p.Asp1120Val)
|
|
|
|
NM_000489.6(ATRX):c.3364T>A (p.Cys1122Ser)
|
|
|
|
NM_000489.6(ATRX):c.3365G>T (p.Cys1122Phe)
|
|
|
|
NM_000489.6(ATRX):c.3369C>T (p.Asn1123=)
|
|
|
|
NM_000489.6(ATRX):c.3383G>C (p.Arg1128Thr)
|
|
|
|
NM_000489.6(ATRX):c.3395T>A (p.Ile1132Lys)
|
|
|
|
NM_000489.6(ATRX):c.3400T>C (p.Leu1134=)
|
rs2148574294
|
|
|
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
|
|
|
|
NM_000489.6(ATRX):c.3409A>G (p.Arg1137Gly)
|
rs2148574004
|
|
|
NM_000489.6(ATRX):c.3414A>G (p.Arg1138=)
|
|
|
|
NM_000489.6(ATRX):c.3417T>C (p.Asn1139=)
|
rs1603216127
|
|
|
NM_000489.6(ATRX):c.3420A>G (p.Leu1140=)
|
|
|
|
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)
|
rs782785569
|
|
|
NM_000489.6(ATRX):c.3422G>C (p.Ser1141Thr)
|
|
|
|
NM_000489.6(ATRX):c.3433A>C (p.Asn1145His)
|
rs2148573453
|
|
|
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
|
|
|
|
NM_000489.6(ATRX):c.3440A>G (p.Lys1147Arg)
|
|
|
|
NM_000489.6(ATRX):c.3442G>C (p.Glu1148Gln)
|
rs2148573185
|
|
|
NM_000489.6(ATRX):c.3444A>C (p.Glu1148Asp)
|
|
|
|
NM_000489.6(ATRX):c.3449A>G (p.Gln1150Arg)
|
rs2148573004
|
|
|
NM_000489.6(ATRX):c.344A>T (p.Asp115Val)
|
|
|
|
NM_000489.6(ATRX):c.3456C>G (p.Gly1152=)
|
rs2071214967
|
|
|
NM_000489.6(ATRX):c.345T>C (p.Asp115=)
|
|
|
|
NM_000489.6(ATRX):c.3467C>T (p.Ser1156Phe)
|
|
|
|
NM_000489.6(ATRX):c.3468T>C (p.Ser1156=)
|
|
|
|
NM_000489.6(ATRX):c.346A>G (p.Ile116Val)
|
|
|
|
NM_000489.6(ATRX):c.3471T>C (p.Asp1157=)
|
|
|
|
NM_000489.6(ATRX):c.3474T>C (p.Ala1158=)
|
rs1603215825
|
|
|
NM_000489.6(ATRX):c.3480A>G (p.Glu1160=)
|
|
|
|
NM_000489.6(ATRX):c.3480A>T (p.Glu1160Asp)
|
rs2071212651
|
|
|
NM_000489.6(ATRX):c.3491A>T (p.Asp1164Val)
|
|
|
|
NM_000489.6(ATRX):c.3492TAA[1] (p.Asn1165del)
|
|
|
|
NM_000489.6(ATRX):c.3494A>G (p.Asn1165Ser)
|
|
|
|
NM_000489.6(ATRX):c.3495T>C (p.Asn1165=)
|
rs782405789
|
|
|
NM_000489.6(ATRX):c.3495_3500del (p.Asn1165_Lys1166del)
|
rs1557137281
|
|
|
NM_000489.6(ATRX):c.3498_3500del (p.Lys1169del)
|
rs782695846
|
|
|
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
|
|
|
|
NM_000489.6(ATRX):c.3521C>T (p.Ser1174Phe)
|
|
|
|
NM_000489.6(ATRX):c.3532G>A (p.Ala1178Thr)
|
|
|
|
NM_000489.6(ATRX):c.3545A>G (p.Lys1182Arg)
|
|
|
|
NM_000489.6(ATRX):c.3546G>A (p.Lys1182=)
|
|
|
|
NM_000489.6(ATRX):c.3546G>C (p.Lys1182Asn)
|
rs1490780716
|
|
|
NM_000489.6(ATRX):c.3563C>T (p.Ser1188Phe)
|
|
|
|
NM_000489.6(ATRX):c.3565C>T (p.Leu1189=)
|
rs2148570011
|
|
|
NM_000489.6(ATRX):c.3569G>C (p.Arg1190Thr)
|
|
|
|
NM_000489.6(ATRX):c.3572C>T (p.Thr1191Ile)
|
rs2148569833
|
|
|
NM_000489.6(ATRX):c.3573A>C (p.Thr1191=)
|
|
|
|
NM_000489.6(ATRX):c.3579T>C (p.Thr1193=)
|
|
|
|
NM_000489.6(ATRX):c.3594T>C (p.Ala1198=)
|
rs2148569253
|
|
|
NM_000489.6(ATRX):c.3606C>A (p.Ser1202=)
|
|
|
|
NM_000489.6(ATRX):c.3610TCT[2] (p.Ser1206del)
|
rs782162142
|
|
|
NM_000489.6(ATRX):c.3611C>G (p.Ser1204Cys)
|
|
|
|
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
|
|
|
|
NM_000489.6(ATRX):c.3620A>G (p.Asp1207Gly)
|
|
|
|
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
|
|
|
|
NM_000489.6(ATRX):c.3635A>G (p.Asp1212Gly)
|
|
|
|
NM_000489.6(ATRX):c.3639G>C (p.Gln1213His)
|
|
|
|
NM_000489.6(ATRX):c.3641A>G (p.Asn1214Ser)
|
rs144527582
|
|
|
NM_000489.6(ATRX):c.3642T>G (p.Asn1214Lys)
|
rs2148568110
|
|
|
NM_000489.6(ATRX):c.3654G>A (p.Glu1218=)
|
|
|
|
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
|
|
|
|
NM_000489.6(ATRX):c.3696T>C (p.Asn1232=)
|
rs2071194249
|
|
|
NM_000489.6(ATRX):c.3699A>G (p.Leu1233=)
|
|
|
|
NM_000489.6(ATRX):c.370+11T>A
|
|
|
|
NM_000489.6(ATRX):c.370+5T>C
|
rs1557149836
|
|
|
NM_000489.6(ATRX):c.370+6GT[2]
|
rs2148677044
|
|
|
NM_000489.6(ATRX):c.370+6del
|
rs2148677116
|
|
|
NM_000489.6(ATRX):c.370+7T>C
|
|
|
|
NM_000489.6(ATRX):c.3703C>T (p.Leu1235=)
|
rs782112095
|
|
|
NM_000489.6(ATRX):c.3708T>C (p.Ser1236=)
|
rs2148566474
|
|
|
NM_000489.6(ATRX):c.371-4C>G
|
rs1603240656
|
|
|
NM_000489.6(ATRX):c.3711A>G (p.Ser1237=)
|
rs2148566364
|
|
|
NM_000489.6(ATRX):c.3714T>C (p.His1238=)
|
rs1264045408
|
|
|
NM_000489.6(ATRX):c.3736+16_3736+19del
|
|
|
|
NM_000489.6(ATRX):c.3736+18A>C
|
|
|
|
NM_000489.6(ATRX):c.3736+5G>A
|
|
|
|
NM_000489.6(ATRX):c.3736+7_3736+11del
|
|
|
|
NM_000489.6(ATRX):c.3737-16A>G
|
|
|
|
NM_000489.6(ATRX):c.3737-16A>T
|
|
|
|
NM_000489.6(ATRX):c.3737-8C>T
|
rs2070862607
|
|
|
NM_000489.6(ATRX):c.3737-9dup
|
|
|
|
NM_000489.6(ATRX):c.3746C>A (p.Ala1249Asp)
|
|
|
|
NM_000489.6(ATRX):c.3751T>C (p.Ser1251Pro)
|
|
|
|
NM_000489.6(ATRX):c.3768C>T (p.Val1256=)
|
rs782065949
|
|
|
NM_000489.6(ATRX):c.3777TGA[5] (p.Asp1264_Asn1265insAsp)
|
|
|
|
NM_000489.6(ATRX):c.3790G>A (p.Asp1264Asn)
|
|
|
|
NM_000489.6(ATRX):c.3791A>G (p.Asp1264Gly)
|
rs2148542963
|
|
|
NM_000489.6(ATRX):c.3801T>G (p.Pro1267=)
|
rs149717199
|
|
|
NM_000489.6(ATRX):c.3809+11A>G
|
|
|
|
NM_000489.6(ATRX):c.3809+12T>C
|
|
|
|
NM_000489.6(ATRX):c.3809+15G>C
|
|
|
|
NM_000489.6(ATRX):c.3810-14T>C
|
|
|
|
NM_000489.6(ATRX):c.3810-19A>G
|
|
|
|
NM_000489.6(ATRX):c.3810-20del
|
|
|
|
NM_000489.6(ATRX):c.3810-20dup
|
|
|
|
NM_000489.6(ATRX):c.3810-6C>T
|
rs1603148801
|
|
|
NM_000489.6(ATRX):c.3840T>A (p.Ile1280=)
|
rs2148498302
|
|
|
NM_000489.6(ATRX):c.3856T>A (p.Ser1286Thr)
|
|
|
|
NM_000489.6(ATRX):c.3861T>C (p.Asp1287=)
|
|
|
|
NM_000489.6(ATRX):c.3870A>G (p.Gly1290=)
|
|
|
|
NM_000489.6(ATRX):c.3873T>C (p.Ser1291=)
|
rs2148497602
|
|
|
NM_000489.6(ATRX):c.3878A>G (p.Asp1293Gly)
|
|
|
|
NM_000489.6(ATRX):c.3909T>G (p.Thr1303=)
|
|
|
|
NM_000489.6(ATRX):c.3933A>G (p.Pro1311=)
|
rs2148496532
|
|
|
NM_000489.6(ATRX):c.393G>A (p.Glu131=)
|
|
|
|
NM_000489.6(ATRX):c.3943+11C>T
|
|
|
|
NM_000489.6(ATRX):c.3943+14A>G
|
rs2148495994
|
|
|
NM_000489.6(ATRX):c.3943+17G>T
|
|
|
|
NM_000489.6(ATRX):c.3943+18_3943+20del
|
|
|
|
NM_000489.6(ATRX):c.3944-4T>C
|
rs2148490315
|
|
|
NM_000489.6(ATRX):c.3944-4T>G
|
rs2148490315
|
|
|
NM_000489.6(ATRX):c.3944-7C>T
|
rs2070047774
|
|
|
NM_000489.6(ATRX):c.3950A>C (p.Lys1317Thr)
|
|
|
|
NM_000489.6(ATRX):c.3955C>G (p.Gln1319Glu)
|
|
|
|
NM_000489.6(ATRX):c.3969A>G (p.Glu1323=)
|
rs2148489875
|
|
|
NM_000489.6(ATRX):c.397G>T (p.Val133Leu)
|
|
|
|
NM_000489.6(ATRX):c.3981T>C (p.Asp1327=)
|
rs2148489592
|
|
|
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr)
|
rs930261155
|
|
|
NM_000489.6(ATRX):c.3984T>C (p.Ser1328=)
|
|
|
|
NM_000489.6(ATRX):c.3984T>G (p.Ser1328=)
|
rs2148489508
|
|
|
NM_000489.6(ATRX):c.3994A>C (p.Lys1332Gln)
|
|
|
|
NM_000489.6(ATRX):c.3999G>A (p.Lys1333=)
|
rs1434514176
|
|
|
NM_000489.6(ATRX):c.39A>G (p.Thr13=)
|
rs1244422748
|
|
|
NM_000489.6(ATRX):c.39A>T (p.Thr13=)
|
rs1244422748
|
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
|
NM_000489.6(ATRX):c.4008C>T (p.Tyr1336=)
|
rs2148489036
|
|
|
NM_000489.6(ATRX):c.4018C>T (p.Leu1340Phe)
|
rs2070041722
|
|
|
NM_000489.6(ATRX):c.4024C>A (p.Arg1342=)
|
|
|
|
NM_000489.6(ATRX):c.4024C>T (p.Arg1342Trp)
|
|
|
|
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
|
|
|
|
NM_000489.6(ATRX):c.4032A>G (p.Lys1344=)
|
rs2148488592
|
|
|
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949
|
|
|
NM_000489.6(ATRX):c.4035G>C (p.Leu1345Phe)
|
|
|
|
NM_000489.6(ATRX):c.4053A>G (p.Glu1351=)
|
|
|
|
NM_000489.6(ATRX):c.4062A>G (p.Glu1354=)
|
|
|
|
NM_000489.6(ATRX):c.4065A>G (p.Glu1355=)
|
|
|
|
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter)
|
rs2070037318
|
|
|
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
|
|
|
|
NM_000489.6(ATRX):c.4080T>C (p.Pro1360=)
|
|
|
|
NM_000489.6(ATRX):c.4081A>G (p.Lys1361Glu)
|
rs1886161029
|
|
|
NM_000489.6(ATRX):c.4088A>G (p.His1363Arg)
|
|
|
|
NM_000489.6(ATRX):c.4091A>C (p.Lys1364Thr)
|
|
|
|
NM_000489.6(ATRX):c.4095A>G (p.Glu1365=)
|
rs2148487372
|
|
|
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
|
|
|
|
NM_000489.6(ATRX):c.4098C>G (p.Val1366=)
|
|
|
|
NM_000489.6(ATRX):c.4104C>G (p.Gly1368=)
|
rs782726352
|
|
|
NM_000489.6(ATRX):c.4104C>T (p.Gly1368=)
|
rs782726352
|
|
|
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
|
|
|
|
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer)
|
rs2070034528
|
|
|
NM_000489.6(ATRX):c.4119G>A (p.Lys1373=)
|
|
|
|
NM_000489.6(ATRX):c.411C>A (p.Asp137Glu)
|
|
|
|
NM_000489.6(ATRX):c.4121-11T>A
|
|
|
|
NM_000489.6(ATRX):c.4121-3A>G
|
|
|
|
NM_000489.6(ATRX):c.4121-9A>C
|
rs2148461126
|
|
|
NM_000489.6(ATRX):c.4122G>A (p.Val1374=)
|
|
|
|
NM_000489.6(ATRX):c.4124G>A (p.Ser1375Asn)
|
|
|
|
NM_000489.6(ATRX):c.4127G>A (p.Ser1376Asn)
|
|
|
|
NM_000489.6(ATRX):c.4147G>A (p.Asp1383Asn)
|
|
|
|
NM_000489.6(ATRX):c.4156G>A (p.Glu1386Lys)
|
|
|
|
NM_000489.6(ATRX):c.4170T>C (p.Ser1390=)
|
rs2148460865
|
|
|
NM_000489.6(ATRX):c.4183G>A (p.Glu1395Lys)
|
|
|
|
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
|
|
|
|
NM_000489.6(ATRX):c.4189G>A (p.Glu1397Lys)
|
|
|
|
NM_000489.6(ATRX):c.4192G>C (p.Asp1398His)
|
|
|
|
NM_000489.6(ATRX):c.4194T>C (p.Asp1398=)
|
|
|
|
NM_000489.6(ATRX):c.4202G>A (p.Arg1401Gln)
|
|
|
|
NM_000489.6(ATRX):c.4209A>G (p.Arg1403=)
|
|
|
|
NM_000489.6(ATRX):c.420T>C (p.Asp140=)
|
|
|
|
NM_000489.6(ATRX):c.4214+10T>A
|
rs2148460516
|
|
|
NM_000489.6(ATRX):c.4214+10T>C
|
rs2148460516
|
|
|
NM_000489.6(ATRX):c.4214+13del
|
|
|
|
NM_000489.6(ATRX):c.4214+14T>G
|
|
|
|
NM_000489.6(ATRX):c.4214+19A>T
|
|
|
|
NM_000489.6(ATRX):c.4214+4T>G
|
rs2148460567
|
|
|
NM_000489.6(ATRX):c.4214+7T>C
|
rs2074841331
|
|
|
NM_000489.6(ATRX):c.4215-14T>C
|
|
|
|
NM_000489.6(ATRX):c.4215-15T>G
|
|
|
|
NM_000489.6(ATRX):c.4215-18G>A
|
|
|
|
NM_000489.6(ATRX):c.4215-20G>A
|
|
|
|
NM_000489.6(ATRX):c.4215-4T>A
|
rs2148451946
|
|
|
NM_000489.6(ATRX):c.4215-5G>C
|
rs111833322
|
|
|
NM_000489.6(ATRX):c.4215-9T>A
|
|
|
|
NM_000489.6(ATRX):c.4215G>A (p.Arg1405=)
|
|
|
|
NM_000489.6(ATRX):c.4216T>G (p.Ser1406Ala)
|
rs2148451827
|
|
|
NM_000489.6(ATRX):c.4226A>G (p.Lys1409Arg)
|
|
|
|
NM_000489.6(ATRX):c.4227A>G (p.Lys1409=)
|
|
|
|
NM_000489.6(ATRX):c.4227A>T (p.Lys1409Asn)
|
|
|
|
NM_000489.6(ATRX):c.4227_4230delinsT (p.Lys1409_Ala1410delinsAsn)
|
rs1603095546
|
|
|
NM_000489.6(ATRX):c.4228G>A (p.Ala1410Thr)
|
|
|
|
NM_000489.6(ATRX):c.4230A>G (p.Ala1410=)
|
|
|
|
NM_000489.6(ATRX):c.4233G>T (p.Glu1411Asp)
|
rs1557118780
|
|
|
NM_000489.6(ATRX):c.4244A>G (p.Asn1415Ser)
|
|
|
|
NM_000489.6(ATRX):c.4248G>A (p.Gln1416=)
|
rs2148451212
|
|
|
NM_000489.6(ATRX):c.4251G>C (p.Arg1417=)
|
rs2148451112
|
|
|
NM_000489.6(ATRX):c.4257T>C (p.Tyr1419=)
|
rs2148450982
|
|
|
NM_000489.6(ATRX):c.426A>G (p.Lys142=)
|
rs2148669877
|
|
|
NM_000489.6(ATRX):c.4275G>A (p.Arg1425=)
|
rs1569535653
|
|
|
NM_000489.6(ATRX):c.4276C>A (p.Arg1426=)
|
rs919106518
|
|
|
NM_000489.6(ATRX):c.4277G>A (p.Arg1426Gln)
|
rs1557118717
|
|
|
NM_000489.6(ATRX):c.4279C>T (p.Arg1427Cys)
|
|
|
|
NM_000489.6(ATRX):c.4287G>A (p.Lys1429=)
|
|
|
|
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
|
|
|
|
NM_000489.6(ATRX):c.429G>A (p.Gly143=)
|
rs2148669860
|
|
|
NM_000489.6(ATRX):c.4302A>C (p.Ser1434=)
|
|
|
|
NM_000489.6(ATRX):c.4305C>T (p.Ser1435=)
|
rs2148450065
|
|
|
NM_000489.6(ATRX):c.4312A>G (p.Asn1438Asp)
|
rs971839925
|
|
|
NM_000489.6(ATRX):c.4312A>T (p.Asn1438Tyr)
|
|
|
|
NM_000489.6(ATRX):c.4317+11C>T
|
|
|
|
NM_000489.6(ATRX):c.4318-10A>C
|
rs781946372
|
|
|
NM_000489.6(ATRX):c.4318-4G>A
|
rs1557117484
|
|
|
NM_000489.6(ATRX):c.4318-6C>T
|
|
|
|
NM_000489.6(ATRX):c.4320T>C (p.Ser1440=)
|
|
|
|
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
|
|
|
|
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)
|
rs1356648720
|
|
|
NM_000489.6(ATRX):c.4338GGA[1] (p.Glu1448del)
|
rs782410402
|
|
|
NM_000489.6(ATRX):c.4341G>A (p.Glu1447=)
|
|
|
|
NM_000489.6(ATRX):c.4344_4358del (p.Lys1449_Glu1453del)
|
rs1557117436
|
|
|
NM_000489.6(ATRX):c.4347AGA[1] (p.Glu1464del)
|
rs587780288
|
|
|
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del)
|
rs1557117424
|
|
|
NM_000489.6(ATRX):c.4350A>G (p.Glu1450=)
|
rs1445980438
|
|
|
NM_000489.6(ATRX):c.4353GGA[2] (p.Glu1464del)
|
rs782630348
|
|
|
NM_000489.6(ATRX):c.4353GGA[4] (p.Glu1464_Asp1465insGlu)
|
|
|
|
NM_000489.6(ATRX):c.4356GGAGGAAGAGGAGGAGGA[1] (p.Glu1459_Glu1464del)
|
rs782794214
|
|
|
NM_000489.6(ATRX):c.4359G>A (p.Glu1453=)
|
|
|
|
NM_000489.6(ATRX):c.4362_4364del (p.Glu1464del)
|
|
|
|
NM_000489.6(ATRX):c.4362_4370del (p.Glu1462_Glu1464del)
|
rs781816162
|
|
|
NM_000489.6(ATRX):c.4362_4376dup (p.Glu1460_Glu1464dup)
|
rs2069287154
|
|
|
NM_000489.6(ATRX):c.4365G>A (p.Glu1455=)
|
rs1569535350
|
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
|
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)
|
rs398123423
|
|
|
NM_000489.6(ATRX):c.4365_4394del (p.Glu1455_Glu1464del)
|
rs1312591978
|
|
|
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[1] (p.Glu1461_Glu1464del)
|
rs781854613
|
|
|
NM_000489.6(ATRX):c.4371GGAGGAGGAAGA[3] (p.Glu1464_Asp1465insGluGluGluGlu)
|
|
|
|
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
|
|
|
|
NM_000489.6(ATRX):c.4386G>T (p.Glu1462Asp)
|
|
|
|
NM_000489.6(ATRX):c.4389G>A (p.Glu1463=)
|
|
|
|
NM_000489.6(ATRX):c.4392A>C (p.Glu1464Asp)
|
|
|
|
NM_000489.6(ATRX):c.4401T>C (p.Asn1467=)
|
|
|
|
NM_000489.6(ATRX):c.4422A>C (p.Gly1474=)
|
rs1603084380
|
|
|
NM_000489.6(ATRX):c.4422A>G (p.Gly1474=)
|
rs1603084380
|
|
|
NM_000489.6(ATRX):c.4452T>C (p.Leu1484=)
|
|
|
|
NM_000489.6(ATRX):c.4458T>C (p.Asp1486=)
|
rs2148437345
|
|
|
NM_000489.6(ATRX):c.4464A>G (p.Lys1488=)
|
|
|
|
NM_000489.6(ATRX):c.4473A>G (p.Thr1491=)
|
rs1603084227
|
|
|
NM_000489.6(ATRX):c.4485T>C (p.Asn1495=)
|
rs2148436888
|
|
|
NM_000489.6(ATRX):c.448A>G (p.Ser150Gly)
|
rs2072040574
|
|
|
NM_000489.6(ATRX):c.4500G>A (p.Glu1500=)
|
rs1352445437
|
|
|
NM_000489.6(ATRX):c.4506G>A (p.Glu1502=)
|
|
|
|
NM_000489.6(ATRX):c.4512A>G (p.Arg1504=)
|
|
|
|
NM_000489.6(ATRX):c.4515A>G (p.Lys1505=)
|
|
|
|
NM_000489.6(ATRX):c.4524T>C (p.Ala1508=)
|
|
|
|
NM_000489.6(ATRX):c.4536T>A (p.Arg1512=)
|
|
|
|
NM_000489.6(ATRX):c.4539G>A (p.Glu1513=)
|
|
|
|
NM_000489.6(ATRX):c.4551G>A (p.Leu1517=)
|
|
|
|
NM_000489.6(ATRX):c.4557+12C>A
|
|
|
|
NM_000489.6(ATRX):c.4557+7A>G
|
|
|
|
NM_000489.6(ATRX):c.4557+8A>G
|
rs2148435001
|
|
|
NM_000489.6(ATRX):c.4558-12C>T
|
|
|
|
NM_000489.6(ATRX):c.4558-13C>T
|
|
|
|
NM_000489.6(ATRX):c.4558-19A>G
|
|
|
|
NM_000489.6(ATRX):c.4558-19A>T
|
|
|
|
NM_000489.6(ATRX):c.4558-8del
|
|
|
|
NM_000489.6(ATRX):c.4569T>C (p.Ile1523=)
|
rs2148360789
|
|
|
NM_000489.6(ATRX):c.4576G>C (p.Ala1526Pro)
|
|
|
|
NM_000489.6(ATRX):c.4586C>T (p.Thr1529Ile)
|
|
|
|
NM_000489.6(ATRX):c.4590G>A (p.Lys1530=)
|
rs2148360161
|
|
|
NM_000489.6(ATRX):c.4590G>C (p.Lys1530Asn)
|
rs2148360161
|
|
|
NM_000489.6(ATRX):c.4602A>C (p.Thr1534=)
|
|
|
|
NM_000489.6(ATRX):c.4611G>A (p.Leu1537=)
|
|
|
|
NM_000489.6(ATRX):c.4617A>G (p.Leu1539=)
|
|
|
|
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
|
|
NM_000489.6(ATRX):c.4660A>G (p.Arg1554Gly)
|
rs2068328911
|
|
|
NM_000489.6(ATRX):c.4661G>A (p.Arg1554Lys)
|
rs2148358518
|
|
|
NM_000489.6(ATRX):c.4665T>C (p.Asn1555=)
|
|
|
|
NM_000489.6(ATRX):c.4699+11A>G
|
|
|
|
NM_000489.6(ATRX):c.4699+3A>G
|
|
|
|
NM_000489.6(ATRX):c.4700-18_4700-15del
|
|
|
|
NM_000489.6(ATRX):c.4700-8dup
|
|
|
|
NM_000489.6(ATRX):c.4701T>C (p.Gly1567=)
|
rs2148351062
|
|
|
NM_000489.6(ATRX):c.4740A>G (p.Lys1580=)
|
rs2068263661
|
|
|
NM_000489.6(ATRX):c.4744A>G (p.Thr1582Ala)
|
|
|
|
NM_000489.6(ATRX):c.4755T>A (p.Ser1585=)
|
rs2148350086
|
|
|
NM_000489.6(ATRX):c.4779C>T (p.Ala1593=)
|
|
|
|
NM_000489.6(ATRX):c.4785T>C (p.Cys1595=)
|
|
|
|
NM_000489.6(ATRX):c.4794T>G (p.Leu1598=)
|
|
|
|
NM_000489.6(ATRX):c.479G>A (p.Arg160His)
|
rs2072039122
|
|
|
NM_000489.6(ATRX):c.4806A>G (p.Leu1602=)
|
|
|
|
NM_000489.6(ATRX):c.4809+13G>A
|
|
|
|
NM_000489.6(ATRX):c.4809+15A>G
|
|
|
|
NM_000489.6(ATRX):c.4809+17A>G
|
|
|
|
NM_000489.6(ATRX):c.4809+7G>A
|
|
|
|
NM_000489.6(ATRX):c.4810-16A>G
|
|
|
|
NM_000489.6(ATRX):c.4810-18C>T
|
rs2148344642
|
|
|
NM_000489.6(ATRX):c.4810-19A>G
|
rs1557106791
|
|
|
NM_000489.6(ATRX):c.4810-4A>C
|
rs2148344448
|
|
|
NM_000489.6(ATRX):c.4810-7C>T
|
|
|
|
NM_000489.6(ATRX):c.4810-7del
|
|
|
|
NM_000489.6(ATRX):c.4812G>A (p.Val1604=)
|
rs2148344333
|
|
|
NM_000489.6(ATRX):c.4824T>A (p.Leu1608=)
|
|
|
|
NM_000489.6(ATRX):c.4824T>G (p.Leu1608=)
|
rs782145428
|
|
|
NM_000489.6(ATRX):c.4830A>G (p.Thr1610=)
|
rs2148343983
|
|
|
NM_000489.6(ATRX):c.4836T>G (p.Leu1612=)
|
rs2068214357
|
|
|
NM_000489.6(ATRX):c.4838T>C (p.Leu1613Ser)
|
rs2148343760
|
|
|
NM_000489.6(ATRX):c.484+10A>G
|
rs2072038158
|
|
|
NM_000489.6(ATRX):c.484+11G>A
|
|
|
|
NM_000489.6(ATRX):c.484+20A>C
|
|
|
|
NM_000489.6(ATRX):c.485-11C>G
|
|
|
|
NM_000489.6(ATRX):c.485-1G>A
|
rs2148657465
|
|
|
NM_000489.6(ATRX):c.485-2A>T
|
|
|
|
NM_000489.6(ATRX):c.485-4C>T
|
|
|
|
NM_000489.6(ATRX):c.485-7C>G
|
rs1225852818
|
|
|
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
|
|
|
|
NM_000489.6(ATRX):c.4869A>G (p.Leu1623=)
|
|
|
|
NM_000489.6(ATRX):c.4872G>T (p.Val1624=)
|
rs2148342914
|
|
|
NM_000489.6(ATRX):c.4887T>C (p.Asn1629=)
|
|
|
|
NM_000489.6(ATRX):c.489T>A (p.Asp163Glu)
|
|
|
|
NM_000489.6(ATRX):c.48G>A (p.Gln16=)
|
rs2148752584
|
|
|
NM_000489.6(ATRX):c.4928A>C (p.Glu1643Ala)
|
|
|
|
NM_000489.6(ATRX):c.4929G>C (p.Glu1643Asp)
|
|
|
|
NM_000489.6(ATRX):c.4935A>G (p.Leu1645=)
|
|
|
|
NM_000489.6(ATRX):c.4956+12del
|
|
|
|
NM_000489.6(ATRX):c.4956+17G>A
|
|
|
|
NM_000489.6(ATRX):c.4956+18T>A
|
|
|
|
NM_000489.6(ATRX):c.4956+19T>C
|
|
|
|
NM_000489.6(ATRX):c.4956+19T>G
|
rs2148340621
|
|
|
NM_000489.6(ATRX):c.4957-17T>G
|
|
|
|
NM_000489.6(ATRX):c.4957-5A>C
|
|
|
|
NM_000489.6(ATRX):c.4957-5A>G
|
rs2068197953
|
|
|
NM_000489.6(ATRX):c.4957-8C>T
|
rs2148338815
|
|
|
NM_000489.6(ATRX):c.495T>C (p.Leu165=)
|
rs2148657392
|
|
|
NM_000489.6(ATRX):c.498T>C (p.His166=)
|
rs2148657337
|
|
|
NM_000489.6(ATRX):c.5005C>T (p.Leu1669=)
|
|
|
|
NM_000489.6(ATRX):c.5019A>G (p.Gln1673=)
|
rs2148336845
|
|
|
NM_000489.6(ATRX):c.5025T>C (p.Asp1675=)
|
rs2148336667
|
|
|
NM_000489.6(ATRX):c.5052G>A (p.Glu1684=)
|
|
|
|
NM_000489.6(ATRX):c.5065C>G (p.Leu1689Val)
|
|
|
|
NM_000489.6(ATRX):c.5067T>G (p.Leu1689=)
|
|
|
|
NM_000489.6(ATRX):c.5079G>A (p.Arg1693=)
|
rs2148335743
|
|
|
NM_000489.6(ATRX):c.5094G>A (p.Arg1698=)
|
|
|
|
NM_000489.6(ATRX):c.5097A>G (p.Lys1699=)
|
|
|
|
NM_000489.6(ATRX):c.5112T>C (p.Phe1704=)
|
rs2148335313
|
|
|
NM_000489.6(ATRX):c.5133A>T (p.Pro1711=)
|
rs2148335082
|
|
|
NM_000489.6(ATRX):c.5134+10T>C
|
rs1569533305
|
|
|
NM_000489.6(ATRX):c.5134+10_5134+11insTTA
|
|
|
|
NM_000489.6(ATRX):c.5134+16A>G
|
|
|
|
NM_000489.6(ATRX):c.5134+6G>C
|
|
|
|
NM_000489.6(ATRX):c.5135-10A>G
|
rs1557099366
|
|
|
NM_000489.6(ATRX):c.5135-11del
|
rs2148272787
|
|
|
NM_000489.6(ATRX):c.5135-14G>A
|
|
|
|
NM_000489.6(ATRX):c.5135-16C>A
|
|
|
|
NM_000489.6(ATRX):c.5135-4G>A
|
|
|
|
NM_000489.6(ATRX):c.5135-6T>G
|
|
|
|
NM_000489.6(ATRX):c.5135-8T>C
|
rs2148272727
|
|
|
NM_000489.6(ATRX):c.513C>T (p.Cys171=)
|
rs1441486930
|
|
|
NM_000489.6(ATRX):c.514A>G (p.Thr172Ala)
|
|
|
|
NM_000489.6(ATRX):c.5167A>G (p.Ile1723Val)
|
|
|
|
NM_000489.6(ATRX):c.5170C>T (p.Leu1724=)
|
|
|
|
NM_000489.6(ATRX):c.5212A>G (p.Ile1738Val)
|
rs1057523890
|
|
|
NM_000489.6(ATRX):c.5220A>T (p.Ser1740=)
|
|
|
|
NM_000489.6(ATRX):c.5222G>A (p.Arg1741Lys)
|
rs1448764008
|
|
|
NM_000489.6(ATRX):c.5229G>A (p.Arg1743=)
|
|
|
|
NM_000489.6(ATRX):c.5232T>A (p.Ile1744=)
|
|
|
|
NM_000489.6(ATRX):c.5247A>G (p.Thr1749=)
|
rs1602887104
|
|
|
NM_000489.6(ATRX):c.5256A>G (p.Gln1752=)
|
rs2148269320
|
|
|
NM_000489.6(ATRX):c.525A>G (p.Gly175=)
|
|
|
|
NM_000489.6(ATRX):c.5262C>T (p.Asn1754=)
|
|
|
|
NM_000489.6(ATRX):c.5267T>C (p.Ile1756Thr)
|
rs2067530352
|
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
|
NM_000489.6(ATRX):c.5272+11A>G
|
|
|
|
NM_000489.6(ATRX):c.5272+13C>A
|
|
|
|
NM_000489.6(ATRX):c.5272+15C>G
|
rs2148268659
|
|
|
NM_000489.6(ATRX):c.5272+19T>G
|
|
|
|
NM_000489.6(ATRX):c.5272+7_5272+12del
|
|
|
|
NM_000489.6(ATRX):c.5272+9del
|
rs2148268759
|
|
|
NM_000489.6(ATRX):c.5273-19A>T
|
|
|
|
NM_000489.6(ATRX):c.5273-4T>G
|
|
|
|
NM_000489.6(ATRX):c.5274T>C (p.Tyr1758=)
|
rs2148261058
|
|
|
NM_000489.6(ATRX):c.5277T>C (p.His1759=)
|
rs2148261027
|
|
|
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
|
|
|
|
NM_000489.6(ATRX):c.5325G>A (p.Glu1775=)
|
|
|
|
NM_000489.6(ATRX):c.5331G>A (p.Arg1777=)
|
rs2148259996
|
|
|
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
|
|
|
|
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
|
|
|
|
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
|
|
|
|
NM_000489.6(ATRX):c.5385A>G (p.Val1795=)
|
|
|
|
NM_000489.6(ATRX):c.5388T>C (p.Asp1796=)
|
|
|
|
NM_000489.6(ATRX):c.5407C>T (p.Arg1803Cys)
|
rs2148258208
|
|
|
NM_000489.6(ATRX):c.5416A>G (p.Ile1806Val)
|
rs2067467967
|
|
|
NM_000489.6(ATRX):c.5436T>C (p.Ala1812=)
|
|
|
|
NM_000489.6(ATRX):c.5442T>C (p.Cys1814=)
|
|
|
|
NM_000489.6(ATRX):c.5448+10T>C
|
rs781958851
|
|
|
NM_000489.6(ATRX):c.5448+11G>T
|
|
|
|
NM_000489.6(ATRX):c.5448+12T>C
|
|
|
|
NM_000489.6(ATRX):c.5448+15C>G
|
|
|
|
NM_000489.6(ATRX):c.5448+15C>T
|
|
|
|
NM_000489.6(ATRX):c.5448+18A>G
|
|
|
|
NM_000489.6(ATRX):c.5448+18del
|
|
|
|
NM_000489.6(ATRX):c.5449-18_5449-17del
|
rs1487877116
|
|
|
NM_000489.6(ATRX):c.5449-4A>G
|
|
|
|
NM_000489.6(ATRX):c.5449-9T>A
|
rs2148245921
|
|
|
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
|
|
|
|
NM_000489.6(ATRX):c.5463A>T (p.Thr1821=)
|
rs2148245476
|
|
|
NM_000489.6(ATRX):c.546A>T (p.Gln182His)
|
rs375794120
|
|
|
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
|
|
|
|
NM_000489.6(ATRX):c.551A>T (p.Asp184Val)
|
|
|
|
NM_000489.6(ATRX):c.5520T>C (p.Thr1840=)
|
rs2148243976
|
|
|
NM_000489.6(ATRX):c.5529G>A (p.Gln1843=)
|
rs2067369678
|
|
|
NM_000489.6(ATRX):c.5536C>T (p.Leu1846Phe)
|
rs1557097008
|
|
|
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)
|
rs1057521987
|
|
|
NM_000489.6(ATRX):c.5544G>A (p.Gln1848=)
|
|
|
|
NM_000489.6(ATRX):c.5551T>C (p.Leu1851=)
|
rs2067368640
|
|
|
NM_000489.6(ATRX):c.5557C>T (p.His1853Tyr)
|
|
|
|
NM_000489.6(ATRX):c.555C>T (p.Ser185=)
|
rs2148656586
|
|
|
NM_000489.6(ATRX):c.5565A>C (p.Thr1855=)
|
|
|
|
NM_000489.6(ATRX):c.5565A>G (p.Thr1855=)
|
rs1557096967
|
|
|
NM_000489.6(ATRX):c.5566+11C>T
|
|
|
|
NM_000489.6(ATRX):c.5566+12A>C
|
|
|
|
NM_000489.6(ATRX):c.5566+5A>C
|
rs782212670
|
|
|
NM_000489.6(ATRX):c.5567-11C>G
|
|
|
|
NM_000489.6(ATRX):c.5567-8T>G
|
|
|
|
NM_000489.6(ATRX):c.5573G>A (p.Gly1858Asp)
|
rs1602739123
|
|
|
NM_000489.6(ATRX):c.5574C>A (p.Gly1858=)
|
rs1253799370
|
|
|
NM_000489.6(ATRX):c.5577T>C (p.Asn1859=)
|
rs1602739035
|
|
|
NM_000489.6(ATRX):c.5579A>C (p.Asn1860Thr)
|
|
|
|
NM_000489.6(ATRX):c.563G>C (p.Arg188Thr)
|
|
|
|
NM_000489.6(ATRX):c.564A>G (p.Arg188=)
|
|
|
|
NM_000489.6(ATRX):c.5659T>G (p.Trp1887Gly)
|
rs2066634036
|
|
|
NM_000489.6(ATRX):c.5673A>G (p.Leu1891=)
|
rs1602738889
|
|
|
NM_000489.6(ATRX):c.567C>T (p.His189=)
|
rs1603233545
|
|
|
NM_000489.6(ATRX):c.5683A>G (p.Ser1895Gly)
|
rs2066633572
|
|
|
NM_000489.6(ATRX):c.5697+11T>A
|
|
|
|
NM_000489.6(ATRX):c.5697+19T>C
|
|
|
|
NM_000489.6(ATRX):c.5697+9G>A
|
rs781963603
|
|
|
NM_000489.6(ATRX):c.5698-17C>T
|
|
|
|
NM_000489.6(ATRX):c.5698-19G>A
|
|
|
|
NM_000489.6(ATRX):c.5698-19G>C
|
|
|
|
NM_000489.6(ATRX):c.5698-7del
|
rs781820607
|
|
|
NM_000489.6(ATRX):c.5698-7dup
|
rs781820607
|
|
|
NM_000489.6(ATRX):c.56A>G (p.His19Arg)
|
|
|
|
NM_000489.6(ATRX):c.5703T>C (p.Tyr1901=)
|
|
|
|
NM_000489.6(ATRX):c.5711A>G (p.Glu1904Gly)
|
rs2066607432
|
|
|
NM_000489.6(ATRX):c.5718T>A (p.Ser1906Arg)
|
|
|
|
NM_000489.6(ATRX):c.5719A>G (p.Met1907Val)
|
rs2066607060
|
|
|
NM_000489.6(ATRX):c.5727A>G (p.Glu1909=)
|
rs2148149729
|
|
|
NM_000489.6(ATRX):c.573A>T (p.Ser191=)
|
|
|
|
NM_000489.6(ATRX):c.5742T>C (p.Asp1914=)
|
|
|
|
NM_000489.6(ATRX):c.574T>C (p.Leu192=)
|
rs2071726776
|
|
|
NM_000489.6(ATRX):c.5751A>T (p.Glu1917Asp)
|
rs2066606140
|
|
|
NM_000489.6(ATRX):c.5772C>T (p.Ser1924=)
|
rs2148148385
|
|
|
NM_000489.6(ATRX):c.5773G>A (p.Asp1925Asn)
|
|
|
|
NM_000489.6(ATRX):c.5786+10A>G
|
rs2066603614
|
|
|
NM_000489.6(ATRX):c.5786+16T>G
|
|
|
|
NM_000489.6(ATRX):c.5786+19C>T
|
|
|
|
NM_000489.6(ATRX):c.5786+3_5786+4insT
|
|
|
|
NM_000489.6(ATRX):c.5786+7C>G
|
|
|
|
NM_000489.6(ATRX):c.5787-13T>C
|
|
|
|
NM_000489.6(ATRX):c.5787-20G>A
|
rs185359850
|
|
|
NM_000489.6(ATRX):c.5787-20_5787-18del
|
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[3]
|
rs782072699
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
|
NM_000489.6(ATRX):c.5787-24GTTT[6]
|
rs782072699
|
|
|
NM_000489.6(ATRX):c.5787-6T>C
|
|
|
|
NM_000489.6(ATRX):c.5800G>A (p.Gly1934Arg)
|
|
|
|
NM_000489.6(ATRX):c.5806A>C (p.Lys1936Gln)
|
|
|
|
NM_000489.6(ATRX):c.5814A>G (p.Lys1938=)
|
rs2148144893
|
|
|
NM_000489.6(ATRX):c.5820T>C (p.Asp1940=)
|
rs2148144698
|
|
|
NM_000489.6(ATRX):c.5820TAG[1] (p.Ser1944del)
|
rs781914158
|
|
|
NM_000489.6(ATRX):c.5825G>A (p.Ser1942Asn)
|
rs2148144524
|
|
|
NM_000489.6(ATRX):c.5841C>T (p.Gly1947=)
|
|
|
|
NM_000489.6(ATRX):c.5844T>C (p.Ser1948=)
|
rs2148143774
|
|
|
NM_000489.6(ATRX):c.5853T>C (p.Asp1951=)
|
rs2148143490
|
|
|
NM_000489.6(ATRX):c.5871C>G (p.Val1957=)
|
rs2148142967
|
|
|
NM_000489.6(ATRX):c.5886T>C (p.Ser1962=)
|
rs2148142450
|
|
|
NM_000489.6(ATRX):c.5888G>A (p.Arg1963Gln)
|
|
|
|
NM_000489.6(ATRX):c.5895T>C (p.Gly1965=)
|
|
|
|
NM_000489.6(ATRX):c.5905A>C (p.Asn1969His)
|
|
|
|
NM_000489.6(ATRX):c.5906A>T (p.Asn1969Ile)
|
|
|
|
NM_000489.6(ATRX):c.5921G>A (p.Gly1974Glu)
|
|
|
|
NM_000489.6(ATRX):c.5921G>C (p.Gly1974Ala)
|
|
|
|
NM_000489.6(ATRX):c.5923A>G (p.Asn1975Asp)
|
|
|
|
NM_000489.6(ATRX):c.594+13C>T
|
|
|
|
NM_000489.6(ATRX):c.594+19A>T
|
|
|
|
NM_000489.6(ATRX):c.594+9del
|
|
|
|
NM_000489.6(ATRX):c.5942T>C (p.Leu1981Ser)
|
|
|
|
NM_000489.6(ATRX):c.595-10C>T
|
rs1368443603
|
|
|
NM_000489.6(ATRX):c.595-17del
|
|
|
|
NM_000489.6(ATRX):c.5951A>G (p.Glu1984Gly)
|
rs2148140220
|
|
|
NM_000489.6(ATRX):c.5956+18T>C
|
|
|
|
NM_000489.6(ATRX):c.5956+20C>T
|
|
|
|
NM_000489.6(ATRX):c.5957-10T>C
|
|
|
|
NM_000489.6(ATRX):c.5957-15A>G
|
|
|
|
NM_000489.6(ATRX):c.5957-7T>G
|
|
|
|
NM_000489.6(ATRX):c.5957-9C>T
|
rs375791318
|
|
|
NM_000489.6(ATRX):c.5957G>A (p.Ser1986Asn)
|
rs2066370578
|
|
|
NM_000489.6(ATRX):c.5958T>C (p.Ser1986=)
|
rs2148116529
|
|
|
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del)
|
rs782391479
|
|
|
NM_000489.6(ATRX):c.5C>G (p.Thr2Ser)
|
|
|
|
NM_000489.6(ATRX):c.6000C>T (p.Asp2000=)
|
|
|
|
NM_000489.6(ATRX):c.6021A>G (p.Thr2007=)
|
|
|
|
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly)
|
rs1557082359
|
|
|
NM_000489.6(ATRX):c.6054G>C (p.Gly2018=)
|
|
|
|
NM_000489.6(ATRX):c.606G>A (p.Lys202=)
|
|
|
|
NM_000489.6(ATRX):c.6085A>G (p.Met2029Val)
|
rs2148115836
|
|
|
NM_000489.6(ATRX):c.6099T>C (p.Ile2033=)
|
|
|
|
NM_000489.6(ATRX):c.60C>T (p.Asp20=)
|
|
|
|
NM_000489.6(ATRX):c.6110+12A>G
|
|
|
|
NM_000489.6(ATRX):c.6110+13C>T
|
|
|
|
NM_000489.6(ATRX):c.6111-17C>G
|
|
|
|
NM_000489.6(ATRX):c.6111-17C>T
|
|
|
|
NM_000489.6(ATRX):c.6111-18A>G
|
rs2066173398
|
|
|
NM_000489.6(ATRX):c.6111-8T>A
|
|
|
|
NM_000489.6(ATRX):c.6111-9dup
|
rs1557079294
|
|
|
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
|
|
|
|
NM_000489.6(ATRX):c.6129C>T (p.Ser2043=)
|
rs2066172590
|
|
|
NM_000489.6(ATRX):c.6145T>C (p.Leu2049=)
|
rs2148090116
|
|
|
NM_000489.6(ATRX):c.6153A>G (p.Glu2051=)
|
rs2148089867
|
|
|
NM_000489.6(ATRX):c.6183G>A (p.Lys2061=)
|
|
|
|
NM_000489.6(ATRX):c.6186A>G (p.Thr2062=)
|
|
|
|
NM_000489.6(ATRX):c.6198T>C (p.Asp2066=)
|
|
|
|
NM_000489.6(ATRX):c.6200A>T (p.Lys2067Ile)
|
|
|
|
NM_000489.6(ATRX):c.6217+11A>C
|
rs2148088106
|
|
|
NM_000489.6(ATRX):c.6217+12A>G
|
rs2148088080
|
|
|
NM_000489.6(ATRX):c.6217+12A>T
|
|
|
|
NM_000489.6(ATRX):c.6217+14A>G
|
|
|
|
NM_000489.6(ATRX):c.6217+15T>C
|
|
|
|
NM_000489.6(ATRX):c.6217+16T>G
|
|
|
|
NM_000489.6(ATRX):c.6217+18C>G
|
|
|
|
NM_000489.6(ATRX):c.6218-14T>C
|
|
|
|
NM_000489.6(ATRX):c.6218-14T>G
|
|
|
|
NM_000489.6(ATRX):c.6218-15T>C
|
|
|
|
NM_000489.6(ATRX):c.6218-17T>C
|
|
|
|
NM_000489.6(ATRX):c.6218-18C>G
|
|
|
|
NM_000489.6(ATRX):c.621T>C (p.Asp207=)
|
|
|
|
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter)
|
rs2148020083
|
|
|
NM_000489.6(ATRX):c.6241A>T (p.Ile2081Phe)
|
|
|
|
NM_000489.6(ATRX):c.6243T>A (p.Ile2081=)
|
rs2148019980
|
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
|
NM_000489.6(ATRX):c.6267C>T (p.Ser2089=)
|
rs2148019844
|
|
|
NM_000489.6(ATRX):c.6276A>C (p.Ala2092=)
|
rs2148019717
|
|
|
NM_000489.6(ATRX):c.6326+12T>G
|
|
|
|
NM_000489.6(ATRX):c.6326+19A>G
|
rs2065526358
|
|
|
NM_000489.6(ATRX):c.6327-16A>T
|
|
|
|
NM_000489.6(ATRX):c.6327-4T>C
|
|
|
|
NM_000489.6(ATRX):c.6327-9C>T
|
|
|
|
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
|
|
|
|
NM_000489.6(ATRX):c.6360A>T (p.Gly2120=)
|
|
|
|
NM_000489.6(ATRX):c.6369A>T (p.Gly2123=)
|
|
|
|
NM_000489.6(ATRX):c.6376C>T (p.Leu2126=)
|
rs2147949539
|
|
|
NM_000489.6(ATRX):c.6379G>A (p.Val2127Ile)
|
rs1602536860
|
|
|
NM_000489.6(ATRX):c.6386C>G (p.Ala2129Gly)
|
|
|
|
NM_000489.6(ATRX):c.6399T>C (p.Ile2133=)
|
|
|
|
NM_000489.6(ATRX):c.63C>T (p.Phe21=)
|
|
|
|
NM_000489.6(ATRX):c.6408C>T (p.Asp2136=)
|
|
|
|
NM_000489.6(ATRX):c.6411T>G (p.Ala2137=)
|
|
|
|
NM_000489.6(ATRX):c.6444A>T (p.Ile2148=)
|
|
|
|
NM_000489.6(ATRX):c.6458G>A (p.Arg2153His)
|
|
|
|
NM_000489.6(ATRX):c.6473A>G (p.Lys2158Arg)
|
rs2147947274
|
|
|
NM_000489.6(ATRX):c.6483T>C (p.Tyr2161=)
|
rs959260382
|
|
|
NM_000489.6(ATRX):c.6484G>A (p.Val2162Ile)
|
rs1569523175
|
|
|
NM_000489.6(ATRX):c.6487T>C (p.Tyr2163His)
|
|
|
|
NM_000489.6(ATRX):c.6495C>T (p.Phe2165=)
|
|
|
|
NM_000489.6(ATRX):c.6496T>C (p.Leu2166=)
|
rs2147946693
|
|
|
NM_000489.6(ATRX):c.649G>A (p.Asp217Asn)
|
rs2071472042
|
|
|
NM_000489.6(ATRX):c.6504+12A>C
|
|
|
|
NM_000489.6(ATRX):c.6504+12A>G
|
|
|
|
NM_000489.6(ATRX):c.6504+12A>T
|
rs1434581448
|
|
|
NM_000489.6(ATRX):c.6504+15C>G
|
rs2147946241
|
|
|
NM_000489.6(ATRX):c.6504+17C>A
|
|
|
|
NM_000489.6(ATRX):c.6504+18T>C
|
|
|
|
NM_000489.6(ATRX):c.6504+3A>G
|
|
|
|
NM_000489.6(ATRX):c.6505-10T>G
|
|
|
|
NM_000489.6(ATRX):c.6505-11T>G
|
rs2147942234
|
|
|
NM_000489.6(ATRX):c.6505-12_6505-10del
|
|
|
|
NM_000489.6(ATRX):c.6505-14T>A
|
|
|
|
NM_000489.6(ATRX):c.6505-15C>T
|
|
|
|
NM_000489.6(ATRX):c.6505-19C>T
|
|
|
|
NM_000489.6(ATRX):c.6508A>G (p.Thr2170Ala)
|
|
|
|
NM_000489.6(ATRX):c.6528T>C (p.Tyr2176=)
|
rs2147942097
|
|
|
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
|
rs1057517707
|
|
|
NM_000489.6(ATRX):c.6534G>T (p.Arg2178=)
|
rs782771702
|
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
|
NM_000489.6(ATRX):c.6552A>G (p.Ser2184=)
|
rs2064851277
|
|
|
NM_000489.6(ATRX):c.6555G>C (p.Leu2185=)
|
rs781823496
|
|
|
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=)
|
rs781823496
|
|
|
NM_000489.6(ATRX):c.6576G>A (p.Gln2192=)
|
|
|
|
NM_000489.6(ATRX):c.658T>C (p.Cys220Arg)
|
|
|
|
NM_000489.6(ATRX):c.6609G>A (p.Glu2203=)
|
rs1602531500
|
|
|
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)
|
rs2064850147
|
|
|
NM_000489.6(ATRX):c.662+12A>G
|
|
|
|
NM_000489.6(ATRX):c.662+16G>A
|
|
|
|
NM_000489.6(ATRX):c.662+18G>A
|
rs2071469895
|
|
|
NM_000489.6(ATRX):c.662+7A>C
|
rs2148642230
|
|
|
NM_000489.6(ATRX):c.6621T>C (p.Leu2207=)
|
|
|
|
NM_000489.6(ATRX):c.663-16C>A
|
rs781981978
|
|
|
NM_000489.6(ATRX):c.663-18dup
|
|
|
|
NM_000489.6(ATRX):c.6645A>G (p.Leu2215=)
|
|
|
|
NM_000489.6(ATRX):c.6648T>C (p.Asp2216=)
|
|
|
|
NM_000489.6(ATRX):c.6651C>A (p.Asp2217Glu)
|
rs2147941386
|
|
|
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
|
|
|
|
NM_000489.6(ATRX):c.6665AGA[3] (p.Lys2225del)
|
|
|
|
NM_000489.6(ATRX):c.6672G>A (p.Lys2224=)
|
rs2147941252
|
|
|
NM_000489.6(ATRX):c.6674A>G (p.Lys2225Arg)
|
rs2064848419
|
|
|
NM_000489.6(ATRX):c.668G>C (p.Cys223Ser)
|
|
|
|
NM_000489.6(ATRX):c.6696A>C (p.Pro2232=)
|
|
|
|
NM_000489.6(ATRX):c.6699+10T>C
|
rs1602531185
|
|
|
NM_000489.6(ATRX):c.6699+11_6699+12del
|
|
|
|
NM_000489.6(ATRX):c.6699+13A>G
|
|
|
|
NM_000489.6(ATRX):c.6699+7A>T
|
|
|
|
NM_000489.6(ATRX):c.6699+8T>C
|
|
|
|
NM_000489.6(ATRX):c.669T>C (p.Cys223=)
|
rs2148640448
|
|
|
NM_000489.6(ATRX):c.6714A>G (p.Ala2238=)
|
|
|
|
NM_000489.6(ATRX):c.6717G>A (p.Glu2239=)
|
|
|
|
NM_000489.6(ATRX):c.6725A>G (p.Gln2242Arg)
|
|
|
|
NM_000489.6(ATRX):c.6730C>T (p.His2244Tyr)
|
rs1569515985
|
|
|
NM_000489.6(ATRX):c.6733A>C (p.Lys2245Gln)
|
|
|
|
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)
|
rs2147761759
|
|
|
NM_000489.6(ATRX):c.6747A>G (p.Val2249=)
|
rs2147761604
|
|
|
NM_000489.6(ATRX):c.6750A>T (p.Gly2250=)
|
|
|
|
NM_000489.6(ATRX):c.6753C>T (p.Tyr2251=)
|
rs797044495
|
|
|
NM_000489.6(ATRX):c.6786A>G (p.Glu2262=)
|
rs2147760587
|
|
|
NM_000489.6(ATRX):c.678T>G (p.Gly226=)
|
|
|
|
NM_000489.6(ATRX):c.6811A>C (p.Arg2271=)
|
rs122445112
|
|
|
NM_000489.6(ATRX):c.6819A>G (p.Ala2273=)
|
|
|
|
NM_000489.6(ATRX):c.6840A>C (p.Ala2280=)
|
|
|
|
NM_000489.6(ATRX):c.6849+10G>A
|
rs2147758557
|
|
|
NM_000489.6(ATRX):c.6849+13A>G
|
|
|
|
NM_000489.6(ATRX):c.6849+20T>A
|
|
|
|
NM_000489.6(ATRX):c.6849+20T>C
|
|
|
|
NM_000489.6(ATRX):c.6849+5T>C
|
|
|
|
NM_000489.6(ATRX):c.6849+7G>T
|
|
|
|
NM_000489.6(ATRX):c.6850-16A>C
|
|
|
|
NM_000489.6(ATRX):c.6850-16A>T
|
rs556807330
|
|
|
NM_000489.6(ATRX):c.6850-19A>G
|
rs2063260471
|
|
|
NM_000489.6(ATRX):c.6850-8G>T
|
|
|
|
NM_000489.6(ATRX):c.6850-9dup
|
|
|
|
NM_000489.6(ATRX):c.6853C>T (p.Leu2285=)
|
|
|
|
NM_000489.6(ATRX):c.6859A>G (p.Met2287Val)
|
|
|
|
NM_000489.6(ATRX):c.6862C>T (p.Arg2288Cys)
|
|
|
|
NM_000489.6(ATRX):c.6863G>A (p.Arg2288His)
|
rs1135401774
|
|
|
NM_000489.6(ATRX):c.6889T>C (p.Leu2297=)
|
|
|
|
NM_000489.6(ATRX):c.6894C>A (p.Pro2298=)
|
|
|
|
NM_000489.6(ATRX):c.6894C>T (p.Pro2298=)
|
|
|
|
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
|
|
|
|
NM_000489.6(ATRX):c.6897T>C (p.Pro2299=)
|
rs2147750199
|
|
|
NM_000489.6(ATRX):c.6903T>C (p.Ser2301=)
|
rs2147749952
|
|
|
NM_000489.6(ATRX):c.6915A>G (p.Gln2305=)
|
|
|
|
NM_000489.6(ATRX):c.6935A>G (p.Asn2312Ser)
|
|
|
|
NM_000489.6(ATRX):c.693T>C (p.Cys231=)
|
|
|
|
NM_000489.6(ATRX):c.6943G>A (p.Ala2315Thr)
|
rs2063256154
|
|
|
NM_000489.6(ATRX):c.6948G>A (p.Leu2316=)
|
|
|
|
NM_000489.6(ATRX):c.6959G>A (p.Ser2320Asn)
|
rs2147748165
|
|
|
NM_000489.6(ATRX):c.6960T>C (p.Ser2320=)
|
rs2147748110
|
|
|
NM_000489.6(ATRX):c.6961A>G (p.Asn2321Asp)
|
rs2147748088
|
|
|
NM_000489.6(ATRX):c.6962A>G (p.Asn2321Ser)
|
|
|
|
NM_000489.6(ATRX):c.6972G>A (p.Leu2324=)
|
rs2147747758
|
|
|
NM_000489.6(ATRX):c.6975+12A>C
|
|
|
|
NM_000489.6(ATRX):c.6975+12A>G
|
|
|
|
NM_000489.6(ATRX):c.6975+14T>C
|
rs1293525623
|
|
|
NM_000489.6(ATRX):c.6975+14T>G
|
|
|
|
NM_000489.6(ATRX):c.6975+17A>G
|
|
|
|
NM_000489.6(ATRX):c.6975+6T>C
|
|
|
|
NM_000489.6(ATRX):c.6975+7T>C
|
|
|
|
NM_000489.6(ATRX):c.6976-12G>T
|
|
|
|
NM_000489.6(ATRX):c.6976-14T>G
|
|
|
|
NM_000489.6(ATRX):c.6976-4C>A
|
|
|
|
NM_000489.6(ATRX):c.6976-7C>T
|
rs2147742028
|
|
|
NM_000489.6(ATRX):c.6976-9T>C
|
rs2147742055
|
|
|
NM_000489.6(ATRX):c.6978C>A (p.Asp2326Glu)
|
rs1569515631
|
|
|
NM_000489.6(ATRX):c.6983_6985del (p.Ile2328del)
|
|
|
|
NM_000489.6(ATRX):c.69A>T (p.Ala23=)
|
rs2148752498
|
|
|
NM_000489.6(ATRX):c.6C>G (p.Thr2=)
|
|
|
|
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
|
|
|
|
NM_000489.6(ATRX):c.7023T>C (p.Ser2341=)
|
rs2063229451
|
|
|
NM_000489.6(ATRX):c.7024G>A (p.Val2342Met)
|
|
|
|
NM_000489.6(ATRX):c.7029A>G (p.Thr2343=)
|
rs1557041353
|
|
|
NM_000489.6(ATRX):c.7036A>C (p.Arg2346=)
|
rs2147741524
|
|
|
NM_000489.6(ATRX):c.7071+10T>C
|
|
|
|
NM_000489.6(ATRX):c.7071+12G>A
|
|
|
|
NM_000489.6(ATRX):c.7071+16A>G
|
|
|
|
NM_000489.6(ATRX):c.7071+16A>T
|
|
|
|
NM_000489.6(ATRX):c.7071+19G>A
|
|
|
|
NM_000489.6(ATRX):c.7071+7T>G
|
rs2147741257
|
|
|
NM_000489.6(ATRX):c.7072-4T>G
|
|
|
|
NM_000489.6(ATRX):c.7072-7C>A
|
|
|
|
NM_000489.6(ATRX):c.7072-9T>C
|
|
|
|
NM_000489.6(ATRX):c.70C>T (p.His24Tyr)
|
rs1191670776
|
|
|
NM_000489.6(ATRX):c.7119A>G (p.Ala2373=)
|
|
|
|
NM_000489.6(ATRX):c.711T>C (p.Asn237=)
|
rs782710787
|
|
|
NM_000489.6(ATRX):c.7139A>T (p.Gln2380Leu)
|
|
|
|
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter)
|
rs1557041077
|
|
|
NM_000489.6(ATRX):c.7143G>A (p.Glu2381=)
|
rs2147737610
|
|
|
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)
|
rs122445099
|
|
|
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=)
|
rs1557041056
|
|
|
NM_000489.6(ATRX):c.7166C>T (p.Ala2389Val)
|
|
|
|
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
|
|
|
|
NM_000489.6(ATRX):c.7188A>G (p.Thr2396=)
|
|
|
|
NM_000489.6(ATRX):c.7191A>G (p.Lys2397=)
|
|
|
|
NM_000489.6(ATRX):c.7200+10C>A
|
rs781824017
|
|
|
NM_000489.6(ATRX):c.7200+14C>T
|
|
|
|
NM_000489.6(ATRX):c.7200+19_7200+22del
|
rs782698877
|
|
|
NM_000489.6(ATRX):c.7200+9del
|
rs781816667
|
|
|
NM_000489.6(ATRX):c.7201-14dup
|
rs782152710
|
|
|
NM_000489.6(ATRX):c.7201-4A>T
|
rs782317502
|
|
|
NM_000489.6(ATRX):c.7201-8C>A
|
rs2062764325
|
|
|
NM_000489.6(ATRX):c.7201-9T>C
|
|
|
|
NM_000489.6(ATRX):c.7218G>A (p.Gln2406=)
|
|
|
|
NM_000489.6(ATRX):c.7242C>T (p.Leu2414=)
|
rs782246110
|
|
|
NM_000489.6(ATRX):c.7248G>A (p.Gln2416=)
|
|
|
|
NM_000489.6(ATRX):c.7260GCA[1] (p.Gln2425del)
|
rs2147651554
|
|
|
NM_000489.6(ATRX):c.7266A>G (p.Gln2422=)
|
rs2147651510
|
|
|
NM_000489.6(ATRX):c.7278G>A (p.Met2426Ile)
|
rs2062761742
|
|
|
NM_000489.6(ATRX):c.7284T>C (p.Tyr2428=)
|
rs2147650995
|
|
|
NM_000489.6(ATRX):c.7297C>T (p.Leu2433=)
|
rs2147650711
|
|
|
NM_000489.6(ATRX):c.72C>T (p.His24=)
|
rs2148752454
|
|
|
NM_000489.6(ATRX):c.7332G>A (p.Leu2444=)
|
rs2147649397
|
|
|
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
|
|
|
|
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
|
|
|
|
NM_000489.6(ATRX):c.733C>T (p.Leu245=)
|
rs2071444982
|
|
|
NM_000489.6(ATRX):c.7344T>G (p.Pro2448=)
|
|
|
|
NM_000489.6(ATRX):c.7347T>G (p.Ser2449=)
|
rs2147648859
|
|
|
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys)
|
rs2147648778
|
|
|
NM_000489.6(ATRX):c.7350C>T (p.Asn2450=)
|
rs2147648778
|
|
|
NM_000489.6(ATRX):c.7356G>A (p.Gln2452=)
|
rs2147648510
|
|
|
NM_000489.6(ATRX):c.735A>G (p.Leu245=)
|
|
|
|
NM_000489.6(ATRX):c.7367T>C (p.Met2456Thr)
|
rs2147648215
|
|
|
NM_000489.6(ATRX):c.7367T>G (p.Met2456Arg)
|
|
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
|
NM_000489.6(ATRX):c.7373G>T (p.Gly2458Val)
|
|
|
|
NM_000489.6(ATRX):c.737G>T (p.Arg246Leu)
|
rs1603226766
|
|
|
NM_000489.6(ATRX):c.7384C>A (p.Pro2462Thr)
|
|
|
|
NM_000489.6(ATRX):c.7390G>A (p.Ala2464Thr)
|
|
|
|
NM_000489.6(ATRX):c.7400T>C (p.Met2467Thr)
|
rs782631992
|
|
|
NM_000489.6(ATRX):c.7413A>G (p.Pro2471=)
|
|
|
|
NM_000489.6(ATRX):c.7422T>C (p.Arg2474=)
|
|
|
|
NM_000489.6(ATRX):c.7425A>G (p.Ala2475=)
|
rs1044007508
|
|
|
NM_000489.6(ATRX):c.7431C>T (p.Pro2477=)
|
|
|
|
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser)
|
rs199543136
|
|
|
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
|
|
|
|
NM_000489.6(ATRX):c.7454G>A (p.Gly2485Glu)
|
|
|
|
NM_000489.6(ATRX):c.7468A>T (p.Lys2490Ter)
|
|
|
|
NM_000489.6(ATRX):c.7472del (p.Lys2490_Ser2491insTer)
|
rs2147645829
|
|
|
NM_000489.6(ATRX):c.756G>A (p.Glu252=)
|
|
|
|
NM_000489.6(ATRX):c.75A>G (p.Ser25=)
|
rs2148752439
|
|
|
NM_000489.6(ATRX):c.763A>G (p.Thr255Ala)
|
|
|
|
NM_000489.6(ATRX):c.765A>G (p.Thr255=)
|
|
|
|
NM_000489.6(ATRX):c.766A>G (p.Ile256Val)
|
|
|
|
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
|
|
|
|
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
|
|
|
|
NM_000489.6(ATRX):c.813G>A (p.Glu271=)
|
rs1557142741
|
|
|
NM_000489.6(ATRX):c.813G>T (p.Glu271Asp)
|
|
|
|
NM_000489.6(ATRX):c.824A>G (p.Asp275Gly)
|
|
|
|
NM_000489.6(ATRX):c.829G>C (p.Val277Leu)
|
rs1569539465
|
|
|
NM_000489.6(ATRX):c.855G>A (p.Glu285=)
|
|
|
|
NM_000489.6(ATRX):c.861A>G (p.Leu287=)
|
|
|
|
NM_000489.6(ATRX):c.869T>C (p.Leu290Ser)
|
|
|
|
NM_000489.6(ATRX):c.902A>G (p.Asp301Gly)
|
|
|
|
NM_000489.6(ATRX):c.924A>G (p.Val308=)
|
|
|
|
NM_000489.6(ATRX):c.924A>T (p.Val308=)
|
|
|
|
NM_000489.6(ATRX):c.938C>G (p.Ser313Cys)
|
|
|
|
NM_000489.6(ATRX):c.942A>G (p.Arg314=)
|
rs2148634095
|
|
|
NM_000489.6(ATRX):c.951A>G (p.Pro317=)
|
|
|
|
NM_000489.6(ATRX):c.958A>C (p.Thr320Pro)
|
rs2071431525
|
|
|
NM_000489.6(ATRX):c.959C>G (p.Thr320Ser)
|
|
|
|
NM_000489.6(ATRX):c.968A>G (p.Asn323Ser)
|
rs1448356954
|
|
|
NM_000489.6(ATRX):c.969T>C (p.Asn323=)
|
rs1603226355
|
|
|
NM_000489.6(ATRX):c.975T>C (p.Asn325=)
|
|
|
|
NM_000489.6(ATRX):c.978A>T (p.Gly326=)
|
|
|
|
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly)
|
rs1557142526
|
|
|
NM_000489.6(ATRX):c.987G>A (p.Lys329=)
|
rs2148633084
|
|
|
NM_000489.6(ATRX):c.98G>A (p.Ser33Asn)
|
|
|
|
NM_000489.6(ATRX):c.991T>G (p.Leu331Val)
|
|
|
|
NM_000489.6(ATRX):c.992T>C (p.Leu331Ser)
|
rs2148633005
|
|
|
NM_000489.6(ATRX):c.999T>C (p.Asp333=)
|
rs2071429803
|
|
|
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)
|
rs1131690786
|
|
|
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala)
|
rs752183295
|
|
|
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)
|
rs1556016529
|
|
|
NM_001015877.2(PHF6):c.1011AGA[1] (p.Glu338del)
|
|
|
|
NM_001015877.2(PHF6):c.1015G>A (p.Asp339Asn)
|
|
|
|
NM_001015877.2(PHF6):c.1017T>C (p.Asp339=)
|
|
|
|
NM_001015877.2(PHF6):c.1020_1022del (p.Glu341del)
|
|
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
|
NM_001015877.2(PHF6):c.1052A>G (p.Glu351Gly)
|
|
|
|
NM_001015877.2(PHF6):c.138+10C>T
|
rs778255925
|
|
|
NM_001015877.2(PHF6):c.138+11C>T
|
|
|
|
NM_001015877.2(PHF6):c.139-11_139-7del
|
rs781657256
|
|
|
NM_001015877.2(PHF6):c.139-13del
|
rs2077286325
|
|
|
NM_001015877.2(PHF6):c.139-15A>T
|
|
|
|
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
|
|
|
|
NM_001015877.2(PHF6):c.234G>A (p.Thr78=)
|
|
|
|
NM_001015877.2(PHF6):c.241-17T>C
|
|
|
|
NM_001015877.2(PHF6):c.241-18T>C
|
|
|
|
NM_001015877.2(PHF6):c.241-7G>T
|
|
|
|
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
|
|
|
|
NM_001015877.2(PHF6):c.294A>C (p.Thr98=)
|
|
|
|
NM_001015877.2(PHF6):c.2T>C (p.Met1Thr)
|
rs132630300
|
|
|
NM_001015877.2(PHF6):c.310C>G (p.His104Asp)
|
rs2077363957
|
|
|
NM_001015877.2(PHF6):c.324A>G (p.Ala108=)
|
|
|
|
NM_001015877.2(PHF6):c.346C>T (p.Arg116Ter)
|
|
|
|
NM_001015877.2(PHF6):c.374+16_374+20del
|
|
|
|
NM_001015877.2(PHF6):c.374+17T>C
|
|
|
|
NM_001015877.2(PHF6):c.374+22_374+26del
|
|
|
|
NM_001015877.2(PHF6):c.374T>A (p.Met125Lys)
|
|
|
|
NM_001015877.2(PHF6):c.375-4del
|
|
|
|
NM_001015877.2(PHF6):c.375G>A (p.Met125Ile)
|
|
|
|
NM_001015877.2(PHF6):c.385C>T (p.Arg129Ter)
|
|
|
|
NM_001015877.2(PHF6):c.399A>G (p.Lys133=)
|
rs780193840
|
|
|
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
|
|
|
|
NM_001015877.2(PHF6):c.418+17C>T
|
|
|
|
NM_001015877.2(PHF6):c.419-16G>A
|
|
|
|
NM_001015877.2(PHF6):c.419-16G>C
|
|
|
|
NM_001015877.2(PHF6):c.440A>T (p.Asn147Ile)
|
rs2077459540
|
|
|
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
|
|
|
|
NM_001015877.2(PHF6):c.585+14A>C
|
rs2124248594
|
|
|
NM_001015877.2(PHF6):c.585+14dup
|
|
|
|
NM_001015877.2(PHF6):c.586-14T>C
|
|
|
|
NM_001015877.2(PHF6):c.586-18T>C
|
|
|
|
NM_001015877.2(PHF6):c.623C>T (p.Thr208Ile)
|
|
|
|
NM_001015877.2(PHF6):c.648T>C (p.His216=)
|
|
|
|
NM_001015877.2(PHF6):c.730-16C>A
|
|
|
|
NM_001015877.2(PHF6):c.762A>C (p.Thr254=)
|
|
|
|
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
|
|
|
|
NM_001015877.2(PHF6):c.804A>G (p.Val268=)
|
|
|
|
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)
|
rs1556019107
|
|
|
NM_001015877.2(PHF6):c.829A>G (p.Arg277Gly)
|
|
|
|
NM_001015877.2(PHF6):c.829del (p.Arg277fs)
|
rs2077467552
|
|
|
NM_001015877.2(PHF6):c.835-16C>A
|
|
|
|
NM_001015877.2(PHF6):c.84T>C (p.Cys28=)
|
|
|
|
NM_001015877.2(PHF6):c.865A>G (p.Thr289Ala)
|
rs2077475371
|
|
|
NM_001015877.2(PHF6):c.86G>C (p.Gly29Ala)
|
rs2077284343
|
|
|
NM_001015877.2(PHF6):c.870T>C (p.Ile290=)
|
|
|
|
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)
|
|
|
|
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
|
|
|
|
NM_001079872.2(CUL4B):c.1044T>C (p.Ser348=)
|
|
|
|
NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=)
|
|
|
|
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)
|
|
|
|
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg)
|
rs1556213268
|
|
|
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
|
|
|
|
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
|
|
|
|
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
|
|
|
|
NM_001079872.2(CUL4B):c.1173+16G>A
|
|
|
|
NM_001079872.2(CUL4B):c.1256+18A>T
|
|
|
|
NM_001079872.2(CUL4B):c.1257-9del
|
rs746854249
|
|
|
NM_001079872.2(CUL4B):c.1257-9dup
|
rs746854249
|
|
|
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
|
|
|
|
NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=)
|
|
|
|
NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)
|
|
|
|
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
|
|
|
|
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)
|
|
|
|
NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)
|
|
|
|
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)
|
rs2147329944
|
|
|
NM_001079872.2(CUL4B):c.15T>C (p.Gly5=)
|
|
|
|
NM_001079872.2(CUL4B):c.1636+11C>T
|
|
|
|
NM_001079872.2(CUL4B):c.164G>A (p.Arg55Lys)
|
rs2147350219
|
|
|
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
|
rs1923849803
|
|
|
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
|
|
|
|
NM_001079872.2(CUL4B):c.1853-13A>G
|
|
|
|
NM_001079872.2(CUL4B):c.1853-19G>A
|
|
|
|
NM_001079872.2(CUL4B):c.188C>T (p.Ser63Phe)
|
|
|
|
NM_001079872.2(CUL4B):c.1939-19T>C
|
|
|
|
NM_001079872.2(CUL4B):c.1939-4A>G
|
|
|
|
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
|
|
|
|
NM_001079872.2(CUL4B):c.2046+6A>C
|
|
|
|
NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=)
|
|
|
|
NM_001079872.2(CUL4B):c.2160+8G>A
|
|
|
|
NM_001079872.2(CUL4B):c.2161-15T>C
|
rs183114462
|
|
|
NM_001079872.2(CUL4B):c.220G>A (p.Asp74Asn)
|
|
|
|
NM_001079872.2(CUL4B):c.224C>T (p.Ser75Leu)
|
|
|
|
NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)
|
|
|
|
NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)
|
|
|
|
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
|
|
|
|
NM_001079872.2(CUL4B):c.2439+11C>A
|
|
|
|
NM_001079872.2(CUL4B):c.243G>T (p.Ser81=)
|
|
|
|
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)
|
|
|
|
NM_001079872.2(CUL4B):c.2592+3A>T
|
|
|
|
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)
|
rs2147314730
|
|
|
NM_001079872.2(CUL4B):c.307T>C (p.Phe103Leu)
|
|
|
|
NM_001079872.2(CUL4B):c.341C>G (p.Ala114Gly)
|
|
|
|
NM_001079872.2(CUL4B):c.355G>T (p.Glu119Ter)
|
|
|
|
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del)
|
rs754330779
|
|
|
NM_001079872.2(CUL4B):c.360CTC[5] (p.Ser128del)
|
rs754330779
|
|
|
NM_001079872.2(CUL4B):c.360CTC[7] (p.Ser128dup)
|
rs754330779
|
|
|
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
|
|
|
|
NM_001079872.2(CUL4B):c.378A>C (p.Ser126=)
|
|
|
|
NM_001079872.2(CUL4B):c.37GCT[6] (p.Ala17dup)
|
rs746690704
|
|
|
NM_001079872.2(CUL4B):c.481TCT[1] (p.Ser162del)
|
|
|
|
NM_001079872.2(CUL4B):c.496T>C (p.Ser166Pro)
|
|
|
|
NM_001079872.2(CUL4B):c.510C>T (p.Asn170=)
|
|
|
|
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
|
|
|
|
NM_001079872.2(CUL4B):c.53A>G (p.Gln18Arg)
|
rs1199433297
|
|
|
NM_001079872.2(CUL4B):c.556+9G>C
|
|
|
|
NM_001079872.2(CUL4B):c.557-11A>G
|
|
|
|
NM_001079872.2(CUL4B):c.573A>G (p.Pro191=)
|
|
|
|
NM_001079872.2(CUL4B):c.672+13A>G
|
|
|
|
NM_001079872.2(CUL4B):c.672+18T>C
|
|
|
|
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)
|
|
|
|
NM_001079872.2(CUL4B):c.69C>T (p.Ala23=)
|
|
|
|
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)
|
rs1556220623
|
|
|
NM_001079872.2(CUL4B):c.76G>A (p.Gly26Ser)
|
|
|
|
NM_001079872.2(CUL4B):c.776+12A>G
|
|
|
|
NM_001079872.2(CUL4B):c.776+13A>G
|
|
|
|
NM_001079872.2(CUL4B):c.776+7dup
|
rs200461872
|
|
|
NM_001079872.2(CUL4B):c.777-11A>G
|
|
|
|
NM_001079872.2(CUL4B):c.783A>G (p.Ser261=)
|
|
|
|
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)
|
|
|
|
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
|
|
|
|
NM_001079872.2(CUL4B):c.847-10del
|
rs762094686
|
|
|
NM_001079872.2(CUL4B):c.920+9G>A
|
|
|
|
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)
|
|
|
|
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)
|
|
|
|
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del)
|
rs1556214312
|
|
|
NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)
|
|
|
|
NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)
|
|
|
|
NM_001082486.1(ACD):c.101G>T (p.Arg34Leu)
|
|
|
|
NM_001082486.1(ACD):c.102A>G (p.Arg34=)
|
|
|
|
NM_001082486.1(ACD):c.103G>A (p.Ala35Thr)
|
rs772377460
|
|
|
NM_001082486.1(ACD):c.106G>A (p.Gly36Arg)
|
rs1452825225
|
|
|
NM_001082486.1(ACD):c.109C>T (p.Arg37Cys)
|
rs748543340
|
|
|
NM_001082486.1(ACD):c.115C>T (p.Arg39Cys)
|
|
|
|
NM_001082486.1(ACD):c.119C>A (p.Ala40Glu)
|
|
|
|
NM_001082486.1(ACD):c.119C>T (p.Ala40Val)
|
rs374417270
|
|
|
NM_001082486.1(ACD):c.121C>A (p.Gln41Lys)
|
|
|
|
NM_001082486.1(ACD):c.123G>A (p.Gln41=)
|
rs974748354
|
|
|
NM_001082486.1(ACD):c.128G>A (p.Arg43Gln)
|
rs767099534
|
|
|
NM_001082486.1(ACD):c.132T>C (p.Gly44=)
|
|
|
|
NM_001082486.1(ACD):c.135A>T (p.Val45=)
|
rs1567643005
|
|
|
NM_001082486.1(ACD):c.138T>C (p.Arg46=)
|
|
|
|
NM_001082486.1(ACD):c.149T>G (p.Leu50Arg)
|
|
|
|
NM_001082486.1(ACD):c.150C>A (p.Leu50=)
|
|
|
|
NM_001082486.1(ACD):c.153C>T (p.Leu51=)
|
|
|
|
NM_001082486.1(ACD):c.157C>A (p.Arg53=)
|
rs773291286
|
|
|
NM_001082486.1(ACD):c.157C>T (p.Arg53Trp)
|
rs773291286
|
|
|
NM_001082486.1(ACD):c.176A>G (p.Glu59Gly)
|
|
|
|
NM_001082486.1(ACD):c.179T>C (p.Leu60Pro)
|
|
|
|
NM_001082486.1(ACD):c.182C>T (p.Pro61Leu)
|
|
|
|
NM_001082486.1(ACD):c.183T>C (p.Pro61=)
|
rs2052981802
|
|
|
NM_001082486.1(ACD):c.187C>T (p.Pro63Ser)
|
rs2142976460
|
|
|
NM_001082486.1(ACD):c.18G>C (p.Gln6His)
|
|
|
|
NM_001082486.1(ACD):c.201G>C (p.Gly67=)
|
|
|
|
NM_001082486.1(ACD):c.208G>A (p.Ala70Thr)
|
rs763682845
|
|
|
NM_001082486.1(ACD):c.208G>T (p.Ala70Ser)
|
|
|
|
NM_001082486.1(ACD):c.217G>A (p.Gly73Arg)
|
|
|
|
NM_001082486.1(ACD):c.35G>C (p.Arg12Thr)
|
|
|
|
NM_001082486.1(ACD):c.37G>A (p.Val13Ile)
|
rs781424953
|
|
|
NM_001082486.1(ACD):c.56G>A (p.Arg19His)
|
|
|
|
NM_001082486.1(ACD):c.60A>C (p.Ala20=)
|
|
|
|
NM_001082486.1(ACD):c.62C>T (p.Pro21Leu)
|
|
|
|
NM_001082486.1(ACD):c.65C>T (p.Ala22Val)
|
|
|
|
NM_001082486.1(ACD):c.66G>C (p.Ala22=)
|
rs766076324
|
|
|
NM_001082486.1(ACD):c.69G>A (p.Gly23=)
|
rs554258142
|
|
|
NM_001082486.1(ACD):c.69G>C (p.Gly23=)
|
|
|
|
NM_001082486.1(ACD):c.74C>G (p.Thr25Ser)
|
rs1237579301
|
|
|
NM_001082486.1(ACD):c.78C>A (p.Ser26Arg)
|
|
|
|
NM_001082486.1(ACD):c.7G>C (p.Gly3Arg)
|
|
|
|
NM_001082486.1(ACD):c.87G>A (p.Leu29=)
|
rs1295714510
|
|
|
NM_001082486.1(ACD):c.88C>T (p.His30Tyr)
|
rs376813282
|
|
|
NM_001082486.1(ACD):c.90C>T (p.His30=)
|
rs2052986707
|
|
|
NM_001082486.1(ACD):c.94G>C (p.Gly32Arg)
|
rs761628896
|
|
|
NM_001082486.1(ACD):c.94G>T (p.Gly32Cys)
|
rs761628896
|
|
|
NM_001082486.1(ACD):c.95G>A (p.Gly32Asp)
|
rs774085628
|
|
|
NM_001082486.1(ACD):c.95G>T (p.Gly32Val)
|
|
|
|
NM_001082486.1(ACD):c.96C>A (p.Gly32=)
|
rs574891736
|
|
|
NM_001082486.1(ACD):c.96C>G (p.Gly32=)
|
rs574891736
|
|
|
NM_001082486.1(ACD):c.96C>T (p.Gly32=)
|
|
|
|
NM_001082486.2(ACD):c.-14G>T
|
|
|
|
NM_001082486.2(ACD):c.-16G>C
|
|
|
|
NM_001082486.2(ACD):c.-19G>T
|
|
|
|
NM_001082486.2(ACD):c.-23A>T
|
rs746445437
|
|
|
NM_001082486.2(ACD):c.-26T>G
|
|
|
|
NM_001082486.2(ACD):c.-29C>A
|
|
|
|
NM_001082486.2(ACD):c.-29C>G
|
rs534010648
|
|
|
NM_001082486.2(ACD):c.-29C>T
|
|
|
|
NM_001082486.2(ACD):c.-30C>T
|
|
|
|
NM_001082486.2(ACD):c.-31C>A
|
rs775903443
|
|
|
NM_001082486.2(ACD):c.-31C>T
|
|
|
|
NM_001082486.2(ACD):c.-34G>C
|
|
|
|
NM_001082486.2(ACD):c.-36C>A
|
rs762184098
|
|
|
NM_001082486.2(ACD):c.-36C>G
|
rs762184098
|
|
|
NM_001082486.2(ACD):c.-36C>T
|
|
|
|
NM_001082486.2(ACD):c.-38A>T
|
|
|
|
NM_001082486.2(ACD):c.-8C>G
|
rs766360608
|
|
|
NM_001082486.2(ACD):c.-8C>T
|
rs766360608
|
|
|
NM_001082486.2(ACD):c.-9G>A
|
|
|
|
NM_001082486.2(ACD):c.-9G>C
|
rs377247506
|
|
|
NM_001082486.2(ACD):c.-9G>T
|
rs377247506
|
|
|
NM_001082486.2(ACD):c.100-12C>T
|
|
|
|
NM_001082486.2(ACD):c.100-15G>A
|
|
|
|
NM_001082486.2(ACD):c.100-15G>C
|
|
|
|
NM_001082486.2(ACD):c.100-15G>T
|
rs747553547
|
|
|
NM_001082486.2(ACD):c.100-16C>T
|
|
|
|
NM_001082486.2(ACD):c.100-19C>T
|
|
|
|
NM_001082486.2(ACD):c.100-1G>A
|
|
|
|
NM_001082486.2(ACD):c.100-6C>T
|
rs1597774112
|
|
|
NM_001082486.2(ACD):c.100-9C>T
|
|
|
|
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys)
|
rs762262197
|
|
|
NM_001082486.2(ACD):c.1007C>T (p.Thr336Ile)
|
|
|
|
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_001082486.2(ACD):c.1024C>T (p.Gln342Ter)
|
rs1316577809
|
|
|
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg)
|
rs1567640107
|
|
|
NM_001082486.2(ACD):c.1026G>A (p.Gln342=)
|
|
|
|
NM_001082486.2(ACD):c.1035T>C (p.Thr345=)
|
|
|
|
NM_001082486.2(ACD):c.1040del (p.Ser347fs)
|
|
|
|
NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)
|
rs2142967912
|
|
|
NM_001082486.2(ACD):c.1049C>T (p.Pro350Leu)
|
|
|
|
NM_001082486.2(ACD):c.1051C>T (p.Arg351Cys)
|
|
|
|
NM_001082486.2(ACD):c.1056C>T (p.Ser352=)
|
|
|
|
NM_001082486.2(ACD):c.1058A>G (p.His353Arg)
|
|
|
|
NM_001082486.2(ACD):c.1071A>C (p.Pro357=)
|
|
|
|
NM_001082486.2(ACD):c.1074C>T (p.His358=)
|
|
|
|
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg)
|
|
|
|
NM_001082486.2(ACD):c.1080T>C (p.Ala360=)
|
|
|
|
NM_001082486.2(ACD):c.1081C>T (p.Leu361Phe)
|
|
|
|
NM_001082486.2(ACD):c.1089C>T (p.Thr363=)
|
|
|
|
NM_001082486.2(ACD):c.1102C>T (p.Pro368Ser)
|
rs143990276
|
|
|
NM_001082486.2(ACD):c.1103_1104del (p.Pro368fs)
|
|
|
|
NM_001082486.2(ACD):c.1106G>A (p.Ser369Asn)
|
|
|
|
NM_001082486.2(ACD):c.1108C>T (p.Leu370=)
|
|
|
|
NM_001082486.2(ACD):c.1119G>A (p.Lys373=)
|
|
|
|
NM_001082486.2(ACD):c.1126G>A (p.Val376Ile)
|
|
|
|
NM_001082486.2(ACD):c.1130G>T (p.Gly377Val)
|
rs2142967624
|
|
|
NM_001082486.2(ACD):c.1137C>T (p.Pro379=)
|
|
|
|
NM_001082486.2(ACD):c.114C>T (p.Ala38=)
|
rs756189227
|
|
|
NM_001082486.2(ACD):c.115_133dup (p.Pro45fs)
|
|
|
|
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu)
|
|
|
|
NM_001082486.2(ACD):c.1186C>T (p.Gln396Ter)
|
rs2052908546
|
|
|
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys)
|
|
|
|
NM_001082486.2(ACD):c.1206+10G>C
|
|
|
|
NM_001082486.2(ACD):c.1206+10del
|
rs2052907559
|
|
|
NM_001082486.2(ACD):c.1206+18G>A
|
|
|
|
NM_001082486.2(ACD):c.1206+4A>G
|
rs2142967211
|
|
|
NM_001082486.2(ACD):c.1206+8T>C
|
|
|
|
NM_001082486.2(ACD):c.1207-18A>G
|
|
|
|
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu)
|
rs201907421
|
|
|
NM_001082486.2(ACD):c.1214C>T (p.Pro405Leu)
|
|
|
|
NM_001082486.2(ACD):c.1224T>A (p.His408Gln)
|
|
|
|
NM_001082486.2(ACD):c.1224T>C (p.His408=)
|
|
|
|
NM_001082486.2(ACD):c.1232G>A (p.Gly411Asp)
|
|
|
|
NM_001082486.2(ACD):c.1238C>T (p.Ala413Val)
|
rs2052901178
|
|
|
NM_001082486.2(ACD):c.123G>C (p.Ala41=)
|
|
|
|
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys)
|
rs1476903915
|
|
|
NM_001082486.2(ACD):c.1252T>A (p.Tyr418Asn)
|
rs1281121095
|
|
|
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg)
|
|
|
|
NM_001082486.2(ACD):c.1262C>T (p.Pro421Leu)
|
rs149418249
|
|
|
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val)
|
|
|
|
NM_001082486.2(ACD):c.1289A>G (p.Gln430Arg)
|
|
|
|
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly)
|
|
|
|
NM_001082486.2(ACD):c.1293T>C (p.Ala431=)
|
rs1597767407
|
|
|
NM_001082486.2(ACD):c.1297A>C (p.Arg433=)
|
rs1407657316
|
|
|
NM_001082486.2(ACD):c.1298+17G>A
|
|
|
|
NM_001082486.2(ACD):c.1298+1G>C
|
rs2052898891
|
|
|
NM_001082486.2(ACD):c.1298+9C>T
|
rs776494951
|
|
|
NM_001082486.2(ACD):c.1299-14T>C
|
rs1413270785
|
|
|
NM_001082486.2(ACD):c.1299-19A>G
|
|
|
|
NM_001082486.2(ACD):c.1299-4C>T
|
rs1597767023
|
|
|
NM_001082486.2(ACD):c.1299G>A (p.Arg433=)
|
|
|
|
NM_001082486.2(ACD):c.1306C>T (p.Pro436Ser)
|
rs201926842
|
|
|
NM_001082486.2(ACD):c.1332C>T (p.His444=)
|
|
|
|
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu)
|
|
|
|
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn)
|
|
|
|
NM_001082486.2(ACD):c.1356G>A (p.Gly452=)
|
|
|
|
NM_001082486.2(ACD):c.1359T>C (p.Ser453=)
|
|
|
|
NM_001082486.2(ACD):c.1363C>T (p.Pro455Ser)
|
|
|
|
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs)
|
rs772312742
|
|
|
NM_001082486.2(ACD):c.1369C>A (p.Pro457Thr)
|
|
|
|
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala)
|
|
|
|
NM_001082486.2(ACD):c.1370_1371delinsTT (p.Pro457Leu)
|
rs2142965523
|
|
|
NM_001082486.2(ACD):c.1371G>A (p.Pro457=)
|
|
|
|
NM_001082486.2(ACD):c.1373T>A (p.Met458Lys)
|
|
|
|
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe)
|
|
|
|
NM_001082486.2(ACD):c.139C>G (p.His47Asp)
|
rs1057522813
|
|
|
NM_001082486.2(ACD):c.140A>G (p.His47Arg)
|
|
|
|
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)
|
|
|
|
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser)
|
|
|
|
NM_001082486.2(ACD):c.150T>C (p.Asp50=)
|
|
|
|
NM_001082486.2(ACD):c.164G>T (p.Gly55Val)
|
|
|
|
NM_001082486.2(ACD):c.174G>A (p.Leu58=)
|
rs768395580
|
|
|
NM_001082486.2(ACD):c.174G>T (p.Leu58=)
|
|
|
|
NM_001082486.2(ACD):c.184G>A (p.Asp62Asn)
|
|
|
|
NM_001082486.2(ACD):c.188G>C (p.Gly63Ala)
|
|
|
|
NM_001082486.2(ACD):c.189G>C (p.Gly63=)
|
|
|
|
NM_001082486.2(ACD):c.18G>A (p.Arg6=)
|
rs779383442
|
|
|
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser)
|
rs779383442
|
|
|
NM_001082486.2(ACD):c.192C>T (p.Thr64=)
|
|
|
|
NM_001082486.2(ACD):c.194A>G (p.His65Arg)
|
|
|
|
NM_001082486.2(ACD):c.201C>T (p.Val67=)
|
rs1428575354
|
|
|
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser)
|
rs748312961
|
|
|
NM_001082486.2(ACD):c.207C>T (p.Cys69=)
|
|
|
|
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn)
|
|
|
|
NM_001082486.2(ACD):c.242+5G>A
|
|
|
|
NM_001082486.2(ACD):c.243-13C>T
|
|
|
|
NM_001082486.2(ACD):c.243-14C>G
|
rs531965174
|
|
|
NM_001082486.2(ACD):c.243-14C>T
|
|
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
|
NM_001082486.2(ACD):c.258C>T (p.Phe86=)
|
|
|
|
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu)
|
|
|
|
NM_001082486.2(ACD):c.267C>G (p.Arg89=)
|
|
|
|
NM_001082486.2(ACD):c.270G>T (p.Gly90=)
|
|
|
|
NM_001082486.2(ACD):c.283C>T (p.Leu95=)
|
rs2142974673
|
|
|
NM_001082486.2(ACD):c.28C>A (p.Arg10=)
|
|
|
|
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp)
|
|
|
|
NM_001082486.2(ACD):c.290T>C (p.Leu97Pro)
|
|
|
|
NM_001082486.2(ACD):c.300_305dup (p.Gly102_Val103insCysGly)
|
|
|
|
NM_001082486.2(ACD):c.303C>T (p.Cys101=)
|
rs2142974629
|
|
|
NM_001082486.2(ACD):c.304G>C (p.Gly102Arg)
|
|
|
|
NM_001082486.2(ACD):c.307G>T (p.Val103Phe)
|
|
|
|
NM_001082486.2(ACD):c.316C>T (p.Gln106Ter)
|
rs2142974596
|
|
|
NM_001082486.2(ACD):c.326A>T (p.Glu109Val)
|
|
|
|
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu)
|
|
|
|
NM_001082486.2(ACD):c.330C>A (p.Gly110=)
|
rs1214995325
|
|
|
NM_001082486.2(ACD):c.330C>T (p.Gly110=)
|
|
|
|
NM_001082486.2(ACD):c.332G>A (p.Gly111Asp)
|
rs2142974572
|
|
|
NM_001082486.2(ACD):c.334G>A (p.Ala112Thr)
|
|
|
|
NM_001082486.2(ACD):c.336+12G>A
|
|
|
|
NM_001082486.2(ACD):c.336+8G>A
|
|
|
|
NM_001082486.2(ACD):c.336+8G>T
|
|
|
|
NM_001082486.2(ACD):c.337-12G>A
|
rs1021416366
|
|
|
NM_001082486.2(ACD):c.337-16C>G
|
|
|
|
NM_001082486.2(ACD):c.337-17C>T
|
rs1186068061
|
|
|
NM_001082486.2(ACD):c.337-20T>G
|
rs1567641944
|
|
|
NM_001082486.2(ACD):c.337-5_337-3del
|
|
|
|
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser)
|
rs377701284
|
|
|
NM_001082486.2(ACD):c.343G>C (p.Glu115Gln)
|
rs141113896
|
|
|
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe)
|
|
|
|
NM_001082486.2(ACD):c.357G>C (p.Gln119His)
|
rs2052958022
|
|
|
NM_001082486.2(ACD):c.359dup (p.Asp121fs)
|
|
|
|
NM_001082486.2(ACD):c.361G>C (p.Asp121His)
|
|
|
|
NM_001082486.2(ACD):c.36G>A (p.Trp12Ter)
|
rs1244950221
|
|
|
NM_001082486.2(ACD):c.394C>A (p.Arg132=)
|
rs2052957232
|
|
|
NM_001082486.2(ACD):c.405G>A (p.Val135=)
|
|
|
|
NM_001082486.2(ACD):c.413+11C>T
|
|
|
|
NM_001082486.2(ACD):c.413+1G>C
|
|
|
|
NM_001082486.2(ACD):c.413+7G>A
|
rs1017802690
|
|
|
NM_001082486.2(ACD):c.413+9T>A
|
|
|
|
NM_001082486.2(ACD):c.414-16C>A
|
rs1363142172
|
|
|
NM_001082486.2(ACD):c.414-17C>G
|
rs1291861643
|
|
|
NM_001082486.2(ACD):c.414-7T>C
|
|
|
|
NM_001082486.2(ACD):c.414-9T>G
|
|
|
|
NM_001082486.2(ACD):c.425T>G (p.Leu142Ter)
|
rs2142973399
|
|
|
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr)
|
|
|
|
NM_001082486.2(ACD):c.430G>A (p.Val144Ile)
|
|
|
|
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln)
|
rs2142976000
|
|
|
NM_001082486.2(ACD):c.443T>C (p.Leu148Pro)
|
|
|
|
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe)
|
|
|
|
NM_001082486.2(ACD):c.453C>A (p.Cys151Ter)
|
|
|
|
NM_001082486.2(ACD):c.458+20C>T
|
|
|
|
NM_001082486.2(ACD):c.459-12C>G
|
|
|
|
NM_001082486.2(ACD):c.459-14C>T
|
rs2142972775
|
|
|
NM_001082486.2(ACD):c.459-16C>T
|
rs1422483519
|
|
|
NM_001082486.2(ACD):c.459-4G>A
|
|
|
|
NM_001082486.2(ACD):c.459-4G>T
|
|
|
|
NM_001082486.2(ACD):c.459-5T>C
|
rs367821436
|
|
|
NM_001082486.2(ACD):c.483G>A (p.Ser161=)
|
|
|
|
NM_001082486.2(ACD):c.485_486insGC (p.Asn163fs)
|
rs2142972519
|
|
|
NM_001082486.2(ACD):c.493+10A>C
|
|
|
|
NM_001082486.2(ACD):c.493+16A>G
|
|
|
|
NM_001082486.2(ACD):c.493+19A>G
|
|
|
|
NM_001082486.2(ACD):c.493+6G>A
|
rs2052945054
|
|
|
NM_001082486.2(ACD):c.494-11C>G
|
|
|
|
NM_001082486.2(ACD):c.494-19C>T
|
rs749224903
|
|
|
NM_001082486.2(ACD):c.494-5C>G
|
|
|
|
NM_001082486.2(ACD):c.496_500del (p.Leu166fs)
|
|
|
|
NM_001082486.2(ACD):c.504G>C (p.Leu168=)
|
|
|
|
NM_001082486.2(ACD):c.513T>C (p.Leu171=)
|
|
|
|
NM_001082486.2(ACD):c.515T>C (p.Leu172Pro)
|
rs2142971578
|
|
|
NM_001082486.2(ACD):c.516G>C (p.Leu172=)
|
|
|
|
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp)
|
|
|
|
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln)
|
rs145007645
|
|
|
NM_001082486.2(ACD):c.527G>T (p.Arg176Leu)
|
rs145007645
|
|
|
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg)
|
|
|
|
NM_001082486.2(ACD):c.536del (p.Gln179fs)
|
rs2142971508
|
|
|
NM_001082486.2(ACD):c.547G>A (p.Gly183Arg)
|
rs2142971458
|
|
|
NM_001082486.2(ACD):c.548G>A (p.Gly183Glu)
|
|
|
|
NM_001082486.2(ACD):c.555C>G (p.Leu185=)
|
|
|
|
NM_001082486.2(ACD):c.556G>A (p.Val186Met)
|
|
|
|
NM_001082486.2(ACD):c.558G>A (p.Val186=)
|
|
|
|
NM_001082486.2(ACD):c.576C>T (p.Cys192=)
|
|
|
|
NM_001082486.2(ACD):c.578T>A (p.Leu193Gln)
|
|
|
|
NM_001082486.2(ACD):c.583C>T (p.Leu195=)
|
rs2142971297
|
|
|
NM_001082486.2(ACD):c.585G>A (p.Leu195=)
|
|
|
|
NM_001082486.2(ACD):c.587A>T (p.Glu196Val)
|
|
|
|
NM_001082486.2(ACD):c.590G>A (p.Gly197Asp)
|
|
|
|
NM_001082486.2(ACD):c.591C>T (p.Gly197=)
|
|
|
|
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala)
|
|
|
|
NM_001082486.2(ACD):c.612C>T (p.Val204=)
|
|
|
|
NM_001082486.2(ACD):c.626C>T (p.Ala209Val)
|
|
|
|
NM_001082486.2(ACD):c.627C>A (p.Ala209=)
|
|
|
|
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg)
|
|
|
|
NM_001082486.2(ACD):c.641C>T (p.Ala214Val)
|
rs1306270247
|
|
|
NM_001082486.2(ACD):c.645+10G>C
|
|
|
|
NM_001082486.2(ACD):c.645+16T>C
|
|
|
|
NM_001082486.2(ACD):c.645+16T>G
|
|
|
|
NM_001082486.2(ACD):c.645+2T>C
|
|
|
|
NM_001082486.2(ACD):c.645+7C>G
|
|
|
|
NM_001082486.2(ACD):c.646-11A>G
|
|
|
|
NM_001082486.2(ACD):c.646-20A>G
|
|
|
|
NM_001082486.2(ACD):c.646-6C>T
|
|
|
|
NM_001082486.2(ACD):c.653C>T (p.Ala218Val)
|
|
|
|
NM_001082486.2(ACD):c.657_665dup (p.Tyr220_Val222dup)
|
rs2142970611
|
|
|
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile)
|
|
|
|
NM_001082486.2(ACD):c.666C>A (p.Val222=)
|
|
|
|
NM_001082486.2(ACD):c.672C>G (p.Ser224Arg)
|
|
|
|
NM_001082486.2(ACD):c.676A>G (p.Met226Val)
|
|
|
|
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe)
|
|
|
|
NM_001082486.2(ACD):c.702G>C (p.Gln234His)
|
rs1202466632
|
|
|
NM_001082486.2(ACD):c.706A>T (p.Ile236Phe)
|
rs757807430
|
|
|
NM_001082486.2(ACD):c.718C>G (p.Leu240Val)
|
|
|
|
NM_001082486.2(ACD):c.723C>T (p.Gly241=)
|
rs757919779
|
|
|
NM_001082486.2(ACD):c.724C>T (p.Pro242Ser)
|
|
|
|
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg)
|
|
|
|
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly)
|
|
|
|
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys)
|
rs1048865744
|
|
|
NM_001082486.2(ACD):c.734G>C (p.Arg245Thr)
|
rs1048865744
|
|
|
NM_001082486.2(ACD):c.737C>A (p.Thr246Lys)
|
rs1555542235
|
|
|
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys)
|
rs1597770431
|
|
|
NM_001082486.2(ACD):c.743-3dup
|
rs1369632476
|
|
|
NM_001082486.2(ACD):c.743-6C>T
|
|
|
|
NM_001082486.2(ACD):c.743-7C>A
|
rs541174802
|
|
|
NM_001082486.2(ACD):c.743G>A (p.Gly248Asp)
|
|
|
|
NM_001082486.2(ACD):c.751C>G (p.Leu251Val)
|
|
|
|
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser)
|
|
|
|
NM_001082486.2(ACD):c.759A>G (p.Pro253=)
|
|
|
|
NM_001082486.2(ACD):c.764A>G (p.Asp255Gly)
|
rs778481591
|
|
|
NM_001082486.2(ACD):c.765C>T (p.Asp255=)
|
|
|
|
NM_001082486.2(ACD):c.767C>G (p.Pro256Arg)
|
|
|
|
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro)
|
|
|
|
NM_001082486.2(ACD):c.781C>T (p.Leu261=)
|
rs760404492
|
|
|
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile)
|
|
|
|
NM_001082486.2(ACD):c.79C>A (p.Arg27=)
|
|
|
|
NM_001082486.2(ACD):c.805CCT[1] (p.Pro270del)
|
|
|
|
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr)
|
|
|
|
NM_001082486.2(ACD):c.813C>T (p.Ser271=)
|
rs878924464
|
|
|
NM_001082486.2(ACD):c.817_828del (p.Pro273_Ser276del)
|
rs777131279
|
|
|
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly)
|
rs2052924182
|
|
|
NM_001082486.2(ACD):c.825C>T (p.Ser275=)
|
rs747335465
|
|
|
NM_001082486.2(ACD):c.830-11C>T
|
|
|
|
NM_001082486.2(ACD):c.830-12C>A
|
|
|
|
NM_001082486.2(ACD):c.830-13C>A
|
|
|
|
NM_001082486.2(ACD):c.830-14C>T
|
rs2142968964
|
|
|
NM_001082486.2(ACD):c.830-1G>A
|
rs1597769397
|
|
|
NM_001082486.2(ACD):c.830-2A>T
|
rs2142968890
|
|
|
NM_001082486.2(ACD):c.830-5C>T
|
|
|
|
NM_001082486.2(ACD):c.830-9C>T
|
|
|
|
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile)
|
|
|
|
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser)
|
|
|
|
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu)
|
|
|
|
NM_001082486.2(ACD):c.861C>G (p.Ser287=)
|
rs751515020
|
|
|
NM_001082486.2(ACD):c.870T>C (p.Ser290=)
|
|
|
|
NM_001082486.2(ACD):c.875C>G (p.Thr292Ser)
|
|
|
|
NM_001082486.2(ACD):c.878G>A (p.Ser293Asn)
|
rs2052917223
|
|
|
NM_001082486.2(ACD):c.879C>T (p.Ser293=)
|
|
|
|
NM_001082486.2(ACD):c.891G>C (p.Leu297=)
|
rs1459307216
|
|
|
NM_001082486.2(ACD):c.894T>A (p.Pro298=)
|
rs773774371
|
|
|
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr)
|
|
|
|
NM_001082486.2(ACD):c.903C>T (p.Ser301=)
|
|
|
|
NM_001082486.2(ACD):c.90G>C (p.Gln30His)
|
rs1242526760
|
|
|
NM_001082486.2(ACD):c.911C>T (p.Ala304Val)
|
rs2142968526
|
|
|
NM_001082486.2(ACD):c.931A>T (p.Ser311Cys)
|
|
|
|
NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
|
|
|
|
NM_001082486.2(ACD):c.939C>G (p.Ser313=)
|
rs1368630251
|
|
|
NM_001082486.2(ACD):c.950_951del (p.Pro317fs)
|
rs2142968355
|
|
|
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr)
|
rs2052915383
|
|
|
NM_001082486.2(ACD):c.965C>T (p.Ala322Val)
|
rs2142968307
|
|
|
NM_001082486.2(ACD):c.971C>A (p.Ala324Asp)
|
|
|
|
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn)
|
rs777812658
|
|
|
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile)
|
rs777812658
|
|
|
NM_001082486.2(ACD):c.975C>T (p.Thr325=)
|
|
|
|
NM_001082486.2(ACD):c.981C>T (p.Thr327=)
|
|
|
|
NM_001082486.2(ACD):c.99+19C>T
|
|
|
|
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp)
|
rs973439601
|
|
|
NM_001082486.2(ACD):c.9T>G (p.Gly3=)
|
rs2142976114
|
|
|
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
|
|
|
|
NM_001110556.2(FLNA):c.1022C>T (p.Thr341Ile)
|
|
|
|
NM_001110556.2(FLNA):c.1023C>A (p.Thr341=)
|
rs1557179351
|
|
|
NM_001110556.2(FLNA):c.102C>T (p.Asp34=)
|
rs2148122056
|
|
|
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
|
rs2067763458
|
|
|
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile)
|
rs782234539
|
|
|
NM_001110556.2(FLNA):c.1050G>C (p.Val350=)
|
rs2148118238
|
|
|
NM_001110556.2(FLNA):c.1053G>A (p.Thr351=)
|
|
|
|
NM_001110556.2(FLNA):c.1062_1063del (p.His354fs)
|
|
|
|
NM_001110556.2(FLNA):c.1065+12G>C
|
|
|
|
NM_001110556.2(FLNA):c.1065+16G>A
|
|
|
|
NM_001110556.2(FLNA):c.1065+17G>C
|
|
|
|
NM_001110556.2(FLNA):c.1065+1G>T
|
rs2067762985
|
|
|
NM_001110556.2(FLNA):c.1065+20G>T
|
|
|
|
NM_001110556.2(FLNA):c.1065G>A (p.Lys355=)
|
rs1557179325
|
|
|
NM_001110556.2(FLNA):c.1066-1G>A
|
rs2148118126
|
|
|
NM_001110556.2(FLNA):c.1066-20G>A
|
|
|
|
NM_001110556.2(FLNA):c.1066-20del
|
rs1444154876
|
|
|
NM_001110556.2(FLNA):c.1066-7G>C
|
|
|
|
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
|
rs2067761804
|
|
|
NM_001110556.2(FLNA):c.1088A>G (p.Gln363Arg)
|
rs1557179289
|
|
|
NM_001110556.2(FLNA):c.108GGA[1] (p.Glu37del)
|
rs2067803106
|
|
|
NM_001110556.2(FLNA):c.1091A>G (p.His364Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)
|
|
|
|
NM_001110556.2(FLNA):c.1095C>A (p.Ile365=)
|
rs373366243
|
|
|
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=)
|
rs373366243
|
|
|
NM_001110556.2(FLNA):c.1105C>G (p.Pro369Ala)
|
rs1029103588
|
|
|
NM_001110556.2(FLNA):c.1107C>T (p.Pro369=)
|
rs886044791
|
|
|
NM_001110556.2(FLNA):c.1111G>C (p.Glu371Gln)
|
rs1557179279
|
|
|
NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)
|
rs2148118072
|
|
|
NM_001110556.2(FLNA):c.1119C>A (p.Tyr373Ter)
|
|
|
|
NM_001110556.2(FLNA):c.1119C>T (p.Tyr373=)
|
|
|
|
NM_001110556.2(FLNA):c.1122G>C (p.Val374=)
|
rs1440456422
|
|
|
NM_001110556.2(FLNA):c.1125T>C (p.Asp375=)
|
|
|
|
NM_001110556.2(FLNA):c.1125T>G (p.Asp375Glu)
|
|
|
|
NM_001110556.2(FLNA):c.1133A>G (p.Gln378Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1133_1134del (p.Gln378fs)
|
rs1603362871
|
|
|
NM_001110556.2(FLNA):c.1141G>A (p.Ala381Thr)
|
rs781984427
|
|
|
NM_001110556.2(FLNA):c.114C>T (p.Asp38=)
|
|
|
|
NM_001110556.2(FLNA):c.1154C>T (p.Thr385Ile)
|
rs2148118000
|
|
|
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
|
rs2067760741
|
|
|
NM_001110556.2(FLNA):c.115G>T (p.Ala39Ser)
|
rs2067803076
|
|
|
NM_001110556.2(FLNA):c.1169G>T (p.Gly390Val)
|
|
|
|
NM_001110556.2(FLNA):c.1170C>T (p.Gly390=)
|
rs1603362865
|
|
|
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
|
rs782633612
|
|
|
NM_001110556.2(FLNA):c.1201A>G (p.Thr401Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1202C>T (p.Thr401Ile)
|
rs782816272
|
|
|
NM_001110556.2(FLNA):c.1208A>C (p.Tyr403Ser)
|
|
|
|
NM_001110556.2(FLNA):c.1228+12C>G
|
|
|
|
NM_001110556.2(FLNA):c.1228+16C>A
|
rs2148117902
|
|
|
NM_001110556.2(FLNA):c.1228+19G>C
|
|
|
|
NM_001110556.2(FLNA):c.1228+8G>C
|
|
|
|
NM_001110556.2(FLNA):c.1229-18G>A
|
|
|
|
NM_001110556.2(FLNA):c.1229G>A (p.Gly410Glu)
|
|
|
|
NM_001110556.2(FLNA):c.122G>A (p.Trp41Ter)
|
|
|
|
NM_001110556.2(FLNA):c.1232C>T (p.Ala411Val)
|
rs2148117837
|
|
|
NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys)
|
|
|
|
NM_001110556.2(FLNA):c.1245G>A (p.Glu415=)
|
|
|
|
NM_001110556.2(FLNA):c.1246G>C (p.Val416Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1252G>T (p.Val418Phe)
|
|
|
|
NM_001110556.2(FLNA):c.1253T>C (p.Val418Ala)
|
|
|
|
NM_001110556.2(FLNA):c.125A>G (p.Lys42Arg)
|
rs1569551930
|
|
|
NM_001110556.2(FLNA):c.1260C>T (p.Ile420=)
|
rs1351119633
|
|
|
NM_001110556.2(FLNA):c.1266C>T (p.Asp422=)
|
|
|
|
NM_001110556.2(FLNA):c.1267C>T (p.Pro423Ser)
|
rs863223643
|
|
|
NM_001110556.2(FLNA):c.1299G>C (p.Gln433His)
|
|
|
|
NM_001110556.2(FLNA):c.129G>A (p.Lys43=)
|
rs1569551929
|
|
|
NM_001110556.2(FLNA):c.129G>C (p.Lys43Asn)
|
rs1569551929
|
|
|
NM_001110556.2(FLNA):c.1308C>T (p.Ala436=)
|
|
|
|
NM_001110556.2(FLNA):c.1311G>A (p.Arg437=)
|
|
|
|
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)
|
|
|
|
NM_001110556.2(FLNA):c.1317C>G (p.Asp439Glu)
|
|
|
|
NM_001110556.2(FLNA):c.1319G>C (p.Ser440Thr)
|
rs782649138
|
|
|
NM_001110556.2(FLNA):c.1322C>T (p.Thr441Ile)
|
|
|
|
NM_001110556.2(FLNA):c.1330T>C (p.Cys444Arg)
|
rs1557179178
|
|
|
NM_001110556.2(FLNA):c.1335C>T (p.Ser445=)
|
rs1569551828
|
|
|
NM_001110556.2(FLNA):c.1342C>A (p.Pro448Thr)
|
rs2067757344
|
|
|
NM_001110556.2(FLNA):c.1348A>T (p.Met450Leu)
|
rs2148117655
|
|
|
NM_001110556.2(FLNA):c.1351G>A (p.Glu451Lys)
|
|
|
|
NM_001110556.2(FLNA):c.1354G>A (p.Gly452Ser)
|
|
|
|
NM_001110556.2(FLNA):c.1355G>A (p.Gly452Asp)
|
rs2067757148
|
|
|
NM_001110556.2(FLNA):c.1357G>A (p.Val453Ile)
|
|
|
|
NM_001110556.2(FLNA):c.1365C>A (p.Thr455=)
|
rs782726997
|
|
|
NM_001110556.2(FLNA):c.1366G>A (p.Val456Met)
|
rs782495199
|
|
|
NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu)
|
rs782495199
|
|
|
NM_001110556.2(FLNA):c.1371C>G (p.His457Gln)
|
rs202112979
|
|
|
NM_001110556.2(FLNA):c.1375A>G (p.Thr459Ala)
|
rs1244330871
|
|
|
NM_001110556.2(FLNA):c.1376C>A (p.Thr459Lys)
|
rs375463904
|
|
|
NM_001110556.2(FLNA):c.1387G>T (p.Val463Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1392C>T (p.Pro464=)
|
rs1557179137
|
|
|
NM_001110556.2(FLNA):c.1395C>T (p.Ile465=)
|
|
|
|
NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser)
|
|
|
|
NM_001110556.2(FLNA):c.1400G>A (p.Arg467His)
|
|
|
|
NM_001110556.2(FLNA):c.1406C>G (p.Pro469Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1411A>G (p.Thr471Ala)
|
|
|
|
NM_001110556.2(FLNA):c.141C>T (p.Asn47=)
|
rs1603363922
|
|
|
NM_001110556.2(FLNA):c.1425C>G (p.Gly475=)
|
|
|
|
NM_001110556.2(FLNA):c.1429+11C>T
|
|
|
|
NM_001110556.2(FLNA):c.1429+13C>G
|
rs1011374425
|
|
|
NM_001110556.2(FLNA):c.1429G>A (p.Ala477Thr)
|
rs2148117564
|
|
|
NM_001110556.2(FLNA):c.1429G>C (p.Ala477Pro)
|
|
|
|
NM_001110556.2(FLNA):c.142A>C (p.Thr48Pro)
|
|
|
|
NM_001110556.2(FLNA):c.1430-14C>T
|
rs2148117129
|
|
|
NM_001110556.2(FLNA):c.1430-15C>T
|
rs1557179021
|
|
|
NM_001110556.2(FLNA):c.1430-16del
|
rs782361173
|
|
|
NM_001110556.2(FLNA):c.1430C>T (p.Ala477Val)
|
|
|
|
NM_001110556.2(FLNA):c.1433G>A (p.Cys478Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.1438C>A (p.Pro480Thr)
|
|
|
|
NM_001110556.2(FLNA):c.1438C>T (p.Pro480Ser)
|
rs782682232
|
|
|
NM_001110556.2(FLNA):c.1439C>A (p.Pro480Gln)
|
|
|
|
NM_001110556.2(FLNA):c.144T>G (p.Thr48=)
|
|
|
|
NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile)
|
rs1557179006
|
|
|
NM_001110556.2(FLNA):c.1457T>C (p.Val486Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1459G>A (p.Gly487Ser)
|
|
|
|
NM_001110556.2(FLNA):c.145_146del (p.Phe49fs)
|
|
|
|
NM_001110556.2(FLNA):c.1464G>C (p.Arg488=)
|
|
|
|
NM_001110556.2(FLNA):c.1466G>T (p.Gly489Val)
|
|
|
|
NM_001110556.2(FLNA):c.1472A>T (p.Gln491Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1478A>G (p.Lys493Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn)
|
rs1557179001
|
|
|
NM_001110556.2(FLNA):c.1482T>C (p.Gly494=)
|
|
|
|
NM_001110556.2(FLNA):c.1486C>T (p.Arg496Trp)
|
rs868994092
|
|
|
NM_001110556.2(FLNA):c.1525_1528del (p.Gly509fs)
|
|
|
|
NM_001110556.2(FLNA):c.1527C>T (p.Gly509=)
|
|
|
|
NM_001110556.2(FLNA):c.1548G>A (p.Lys516=)
|
rs2148117013
|
|
|
NM_001110556.2(FLNA):c.1552A>G (p.Thr518Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1560G>A (p.Lys520=)
|
|
|
|
NM_001110556.2(FLNA):c.1565C>T (p.Pro522Leu)
|
|
|
|
NM_001110556.2(FLNA):c.1567+14G>A
|
|
|
|
NM_001110556.2(FLNA):c.1567+16G>A
|
|
|
|
NM_001110556.2(FLNA):c.1568-13C>T
|
rs956294903
|
|
|
NM_001110556.2(FLNA):c.1568-15T>A
|
|
|
|
NM_001110556.2(FLNA):c.1568-16C>G
|
|
|
|
NM_001110556.2(FLNA):c.1568-18C>T
|
|
|
|
NM_001110556.2(FLNA):c.1568-19dup
|
|
|
|
NM_001110556.2(FLNA):c.1568-20G>A
|
rs2148116951
|
|
|
NM_001110556.2(FLNA):c.1568-3C>T
|
|
|
|
NM_001110556.2(FLNA):c.1568-5G>C
|
|
|
|
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu)
|
rs1557178957
|
|
|
NM_001110556.2(FLNA):c.1582G>C (p.Val528Leu)
|
rs143873938
|
|
|
NM_001110556.2(FLNA):c.1593G>A (p.Lys531=)
|
|
|
|
NM_001110556.2(FLNA):c.1598T>C (p.Leu533Pro)
|
|
|
|
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)
|
|
|
|
NM_001110556.2(FLNA):c.1601_1603dup (p.Gly534_Asp535insGly)
|
|
|
|
NM_001110556.2(FLNA):c.1607G>A (p.Gly536Asp)
|
|
|
|
NM_001110556.2(FLNA):c.1609G>C (p.Val537Leu)
|
rs782067087
|
|
|
NM_001110556.2(FLNA):c.1610T>C (p.Val537Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1616G>C (p.Gly539Ala)
|
rs863223618
|
|
|
NM_001110556.2(FLNA):c.1621G>C (p.Glu541Gln)
|
rs743546
|
|
|
NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp)
|
|
|
|
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys)
|
rs41304984
|
|
|
NM_001110556.2(FLNA):c.1634T>C (p.Met545Thr)
|
|
|
|
NM_001110556.2(FLNA):c.1635G>A (p.Met545Ile)
|
|
|
|
NM_001110556.2(FLNA):c.1643G>A (p.Gly548Glu)
|
|
|
|
NM_001110556.2(FLNA):c.1647C>G (p.Thr549=)
|
|
|
|
NM_001110556.2(FLNA):c.1653C>T (p.Ile551=)
|
|
|
|
NM_001110556.2(FLNA):c.1657A>G (p.Thr553Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1659C>T (p.Thr553=)
|
rs2067747250
|
|
|
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met)
|
rs782611953
|
|
|
NM_001110556.2(FLNA):c.1673G>T (p.Gly558Val)
|
|
|
|
NM_001110556.2(FLNA):c.167A>G (p.His56Arg)
|
rs2148121997
|
|
|
NM_001110556.2(FLNA):c.168C>G (p.His56Gln)
|
rs1569551928
|
|
|
NM_001110556.2(FLNA):c.1691+11C>T
|
|
|
|
NM_001110556.2(FLNA):c.1691+11dup
|
|
|
|
NM_001110556.2(FLNA):c.1692-11C>T
|
rs782228432
|
|
|
NM_001110556.2(FLNA):c.1692-13C>G
|
|
|
|
NM_001110556.2(FLNA):c.1692-13C>T
|
|
|
|
NM_001110556.2(FLNA):c.1692-16G>T
|
|
|
|
NM_001110556.2(FLNA):c.1692-19G>A
|
|
|
|
NM_001110556.2(FLNA):c.1692-7T>C
|
|
|
|
NM_001110556.2(FLNA):c.1698C>G (p.Phe566Leu)
|
rs781830848
|
|
|
NM_001110556.2(FLNA):c.1698C>T (p.Phe566=)
|
rs781830848
|
|
|
NM_001110556.2(FLNA):c.16T>G (p.Ser6Ala)
|
|
|
|
NM_001110556.2(FLNA):c.1704G>A (p.Val568=)
|
|
|
|
NM_001110556.2(FLNA):c.1707G>A (p.Lys569=)
|
|
|
|
NM_001110556.2(FLNA):c.1710G>A (p.Val570=)
|
|
|
|
NM_001110556.2(FLNA):c.1712G>A (p.Gly571Asp)
|
|
|
|
NM_001110556.2(FLNA):c.171G>A (p.Leu57=)
|
|
|
|
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1739G>A (p.Arg580Gln)
|
|
|
|
NM_001110556.2(FLNA):c.1743C>A (p.Ala581=)
|
rs1569551790
|
|
|
NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)
|
rs1447594194
|
|
|
NM_001110556.2(FLNA):c.1764C>T (p.Gly588=)
|
|
|
|
NM_001110556.2(FLNA):c.1769T>A (p.Val590Asp)
|
|
|
|
NM_001110556.2(FLNA):c.1785A>G (p.Ala595=)
|
|
|
|
NM_001110556.2(FLNA):c.1788C>T (p.Asp596=)
|
|
|
|
NM_001110556.2(FLNA):c.1796T>A (p.Val599Glu)
|
rs1603362453
|
|
|
NM_001110556.2(FLNA):c.1799A>G (p.Glu600Gly)
|
rs1603362451
|
|
|
NM_001110556.2(FLNA):c.1804A>G (p.Ile602Val)
|
rs1057522788
|
|
|
NM_001110556.2(FLNA):c.1807G>T (p.Gly603Trp)
|
rs200116438
|
|
|
NM_001110556.2(FLNA):c.1816G>A (p.Val606Met)
|
rs2067743164
|
|
|
NM_001110556.2(FLNA):c.1824G>T (p.Thr608=)
|
rs782114616
|
|
|
NM_001110556.2(FLNA):c.1828+6T>C
|
|
|
|
NM_001110556.2(FLNA):c.1829-11G>C
|
|
|
|
NM_001110556.2(FLNA):c.1829-19G>A
|
|
|
|
NM_001110556.2(FLNA):c.1829-3C>T
|
rs2148116361
|
|
|
NM_001110556.2(FLNA):c.182G>A (p.Ser61Asn)
|
rs1557180197
|
|
|
NM_001110556.2(FLNA):c.1844G>A (p.Gly615Glu)
|
rs2148116352
|
|
|
NM_001110556.2(FLNA):c.1855G>C (p.Ala619Pro)
|
rs2148116341
|
|
|
NM_001110556.2(FLNA):c.1857T>A (p.Ala619=)
|
|
|
|
NM_001110556.2(FLNA):c.185A>G (p.Lys62Arg)
|
rs2148121972
|
|
|
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys)
|
rs1131691935
|
|
|
NM_001110556.2(FLNA):c.1867T>C (p.Cys623Arg)
|
|
|
|
NM_001110556.2(FLNA):c.1869T>C (p.Cys623=)
|
|
|
|
NM_001110556.2(FLNA):c.186G>T (p.Lys62Asn)
|
rs2148121969
|
|
|
NM_001110556.2(FLNA):c.1882G>T (p.Asp628Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.1896T>C (p.Asp632=)
|
rs2148116306
|
|
|
NM_001110556.2(FLNA):c.189C>T (p.Arg63=)
|
rs2148121962
|
|
|
NM_001110556.2(FLNA):c.18T>C (p.Ser6=)
|
rs2067805101
|
|
|
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly)
|
rs111516546
|
|
|
NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)
|
|
|
|
NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)
|
rs2148116288
|
|
|
NM_001110556.2(FLNA):c.1915G>A (p.Glu639Lys)
|
|
|
|
NM_001110556.2(FLNA):c.1922G>T (p.Gly641Val)
|
rs2148116278
|
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
|
NM_001110556.2(FLNA):c.1927T>G (p.Tyr643Asp)
|
|
|
|
NM_001110556.2(FLNA):c.1931C>T (p.Ala644Val)
|
|
|
|
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
|
rs2067741257
|
|
|
NM_001110556.2(FLNA):c.1936C>A (p.His646Asn)
|
|
|
|
NM_001110556.2(FLNA):c.1940T>G (p.Val647Gly)
|
|
|
|
NM_001110556.2(FLNA):c.1944G>A (p.Leu648=)
|
|
|
|
NM_001110556.2(FLNA):c.1946G>A (p.Cys649Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.194C>T (p.Ala65Val)
|
|
|
|
NM_001110556.2(FLNA):c.1953C>T (p.Ser651=)
|
|
|
|
NM_001110556.2(FLNA):c.1958A>G (p.Asp653Gly)
|
rs1249111377
|
|
|
NM_001110556.2(FLNA):c.1961T>C (p.Ile654Thr)
|
|
|
|
NM_001110556.2(FLNA):c.196A>T (p.Asn66Tyr)
|
rs1569551926
|
|
|
NM_001110556.2(FLNA):c.1978A>G (p.Met660Val)
|
|
|
|
NM_001110556.2(FLNA):c.1981G>A (p.Ala661Thr)
|
|
|
|
NM_001110556.2(FLNA):c.1990C>T (p.Arg664Cys)
|
|
|
|
NM_001110556.2(FLNA):c.1991G>T (p.Arg664Leu)
|
rs1271495778
|
|
|
NM_001110556.2(FLNA):c.1997C>G (p.Ala666Gly)
|
rs374295965
|
|
|
NM_001110556.2(FLNA):c.1997C>T (p.Ala666Val)
|
rs374295965
|
|
|
NM_001110556.2(FLNA):c.19C>G (p.Arg7Gly)
|
rs941318584
|
|
|
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp)
|
rs941318584
|
|
|
NM_001110556.2(FLNA):c.2003A>C (p.Gln668Pro)
|
|
|
|
NM_001110556.2(FLNA):c.2003A>G (p.Gln668Arg)
|
rs1603362336
|
|
|
NM_001110556.2(FLNA):c.2007C>G (p.Asp669Glu)
|
|
|
|
NM_001110556.2(FLNA):c.2019C>A (p.Asp673Glu)
|
|
|
|
NM_001110556.2(FLNA):c.2019C>T (p.Asp673=)
|
rs1557178734
|
|
|
NM_001110556.2(FLNA):c.2020A>G (p.Arg674Gly)
|
rs2067740244
|
|
|
NM_001110556.2(FLNA):c.2022+12G>A
|
rs201503149
|
|
|
NM_001110556.2(FLNA):c.2022+6G>A
|
|
|
|
NM_001110556.2(FLNA):c.2022+9C>G
|
|
|
|
NM_001110556.2(FLNA):c.2023-10C>T
|
|
|
|
NM_001110556.2(FLNA):c.2023-17G>A
|
|
|
|
NM_001110556.2(FLNA):c.2023-5G>T
|
|
|
|
NM_001110556.2(FLNA):c.2026_2029dup (p.Ala677fs)
|
|
|
|
NM_001110556.2(FLNA):c.2038C>T (p.Pro680Ser)
|
|
|
|
NM_001110556.2(FLNA):c.2064C>T (p.Ala688=)
|
rs782738252
|
|
|
NM_001110556.2(FLNA):c.2071A>C (p.Lys691Gln)
|
rs2067738505
|
|
|
NM_001110556.2(FLNA):c.2088A>G (p.Thr696=)
|
|
|
|
NM_001110556.2(FLNA):c.2094T>G (p.Asp698Glu)
|
rs2148115999
|
|
|
NM_001110556.2(FLNA):c.2113G>A (p.Ala705Thr)
|
rs2148115967
|
|
|
NM_001110556.2(FLNA):c.2115C>G (p.Ala705=)
|
|
|
|
NM_001110556.2(FLNA):c.2136+13C>T
|
|
|
|
NM_001110556.2(FLNA):c.2136+18_2136+19del
|
|
|
|
NM_001110556.2(FLNA):c.2136+7C>T
|
|
|
|
NM_001110556.2(FLNA):c.2137-11C>T
|
|
|
|
NM_001110556.2(FLNA):c.2137-13A>G
|
rs2067736839
|
|
|
NM_001110556.2(FLNA):c.2137-14T>C
|
rs2067736862
|
|
|
NM_001110556.2(FLNA):c.2137-3C>G
|
rs1315164840
|
|
|
NM_001110556.2(FLNA):c.2137-8C>T
|
|
|
|
NM_001110556.2(FLNA):c.2142T>C (p.Asn714=)
|
|
|
|
NM_001110556.2(FLNA):c.2167G>A (p.Val723Ile)
|
rs2148115805
|
|
|
NM_001110556.2(FLNA):c.2167G>C (p.Val723Leu)
|
rs2148115805
|
|
|
NM_001110556.2(FLNA):c.2170A>G (p.Lys724Glu)
|
rs2067736374
|
|
|
NM_001110556.2(FLNA):c.2171A>G (p.Lys724Arg)
|
|
|
|
NM_001110556.2(FLNA):c.2175C>T (p.Asp725=)
|
rs2067736280
|
|
|
NM_001110556.2(FLNA):c.2189C>G (p.Thr730Ser)
|
rs2067736058
|
|
|
NM_001110556.2(FLNA):c.2189C>T (p.Thr730Ile)
|
|
|
|
NM_001110556.2(FLNA):c.2190_2193del (p.Tyr731fs)
|
rs863223630
|
|
|
NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)
|
rs2148115776
|
|
|
NM_001110556.2(FLNA):c.2199C>T (p.Cys733=)
|
rs2148115769
|
|
|
NM_001110556.2(FLNA):c.2203T>C (p.Tyr735His)
|
|
|
|
NM_001110556.2(FLNA):c.2204A>G (p.Tyr735Cys)
|
rs1603362223
|
|
|
NM_001110556.2(FLNA):c.2229C>T (p.His743=)
|
|
|
|
NM_001110556.2(FLNA):c.2233G>A (p.Ala745Thr)
|
|
|
|
NM_001110556.2(FLNA):c.2233G>T (p.Ala745Ser)
|
rs1336740117
|
|
|
NM_001110556.2(FLNA):c.2244C>T (p.Ser748=)
|
rs1442100193
|
|
|
NM_001110556.2(FLNA):c.2247G>C (p.Trp749Cys)
|
rs2148115714
|
|
|
NM_001110556.2(FLNA):c.2254G>C (p.Val752Leu)
|
|
|
|
NM_001110556.2(FLNA):c.2254_2268delinsCCCTTCAGGGTG (p.Val752_Asn756delinsProPheArgVal)
|
rs863223631
|
|
|
NM_001110556.2(FLNA):c.2267A>G (p.Asn756Ser)
|
rs781874902
|
|
|
NM_001110556.2(FLNA):c.2272C>T (p.Pro758Ser)
|
|
|
|
NM_001110556.2(FLNA):c.2280+10C>T
|
rs1603362189
|
|
|
NM_001110556.2(FLNA):c.2280+18G>A
|
rs376960489
|
|
|
NM_001110556.2(FLNA):c.2280+18G>T
|
rs376960489
|
|
|
NM_001110556.2(FLNA):c.2280+9A>G
|
rs1603362191
|
|
|
NM_001110556.2(FLNA):c.2281-13del
|
|
|
|
NM_001110556.2(FLNA):c.2281-14C>T
|
|
|
|
NM_001110556.2(FLNA):c.2281-17G>T
|
|
|
|
NM_001110556.2(FLNA):c.2281-19_2281-14del
|
|
|
|
NM_001110556.2(FLNA):c.2281-25TTGCCC[3]
|
|
|
|
NM_001110556.2(FLNA):c.2281-3C>A
|
rs1603361933
|
|
|
NM_001110556.2(FLNA):c.2281-4G>T
|
|
|
|
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
|
rs2067723474
|
|
|
NM_001110556.2(FLNA):c.228G>A (p.Arg76=)
|
|
|
|
NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala)
|
|
|
|
NM_001110556.2(FLNA):c.2292A>C (p.Gly764=)
|
|
|
|
NM_001110556.2(FLNA):c.2310C>T (p.Asn770=)
|
rs202109957
|
|
|
NM_001110556.2(FLNA):c.2317A>G (p.Lys773Glu)
|
|
|
|
NM_001110556.2(FLNA):c.2319A>C (p.Lys773Asn)
|
rs1060500719
|
|
|
NM_001110556.2(FLNA):c.2319A>G (p.Lys773=)
|
rs1060500719
|
|
|
NM_001110556.2(FLNA):c.2319A>T (p.Lys773Asn)
|
rs1060500719
|
|
|
NM_001110556.2(FLNA):c.231T>C (p.Leu77=)
|
rs2148121940
|
|
|
NM_001110556.2(FLNA):c.2332G>A (p.Gly778Arg)
|
rs2148114671
|
|
|
NM_001110556.2(FLNA):c.2352C>T (p.Leu784=)
|
|
|
|
NM_001110556.2(FLNA):c.2357C>G (p.Ala786Gly)
|
rs2067722548
|
|
|
NM_001110556.2(FLNA):c.2358C>T (p.Ala786=)
|
|
|
|
NM_001110556.2(FLNA):c.2361C>T (p.His787=)
|
rs863223620
|
|
|
NM_001110556.2(FLNA):c.2366C>T (p.Pro789Leu)
|
|
|
|
NM_001110556.2(FLNA):c.2367C>T (p.Pro789=)
|
rs2148114630
|
|
|
NM_001110556.2(FLNA):c.2370C>T (p.Thr790=)
|
|
|
|
NM_001110556.2(FLNA):c.237G>T (p.Ala79=)
|
rs200626788
|
|
|
NM_001110556.2(FLNA):c.2389G>T (p.Ala797Ser)
|
rs201073998
|
|
|
NM_001110556.2(FLNA):c.2391C>T (p.Ala797=)
|
rs918799305
|
|
|
NM_001110556.2(FLNA):c.2395G>A (p.Ala799Thr)
|
|
|
|
NM_001110556.2(FLNA):c.23C>T (p.Ala8Val)
|
|
|
|
NM_001110556.2(FLNA):c.2404+14G>C
|
|
|
|
NM_001110556.2(FLNA):c.2404+7C>G
|
|
|
|
NM_001110556.2(FLNA):c.2404+7C>T
|
|
|
|
NM_001110556.2(FLNA):c.2405-10C>G
|
|
|
|
NM_001110556.2(FLNA):c.2405-11C>T
|
rs2148114559
|
|
|
NM_001110556.2(FLNA):c.2405-17_2405-3del
|
rs2067721254
|
|
|
NM_001110556.2(FLNA):c.2405-19G>A
|
rs970755638
|
|
|
NM_001110556.2(FLNA):c.2405-1G>C
|
|
|
|
NM_001110556.2(FLNA):c.2405-3C>A
|
|
|
|
NM_001110556.2(FLNA):c.2405-7G>T
|
|
|
|
NM_001110556.2(FLNA):c.2405-8C>T
|
|
|
|
NM_001110556.2(FLNA):c.2405-8_2405-5dup
|
rs782040815
|
|
|
NM_001110556.2(FLNA):c.240G>C (p.Leu80=)
|
|
|
|
NM_001110556.2(FLNA):c.2418C>T (p.Ile806=)
|
|
|
|
NM_001110556.2(FLNA):c.241T>C (p.Leu81=)
|
rs2148121927
|
|
|
NM_001110556.2(FLNA):c.2424C>A (p.Ile808=)
|
rs782348851
|
|
|
NM_001110556.2(FLNA):c.2452del (p.Ala818fs)
|
rs1603361851
|
|
|
NM_001110556.2(FLNA):c.245A>T (p.Glu82Val)
|
rs28935169
|
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
|
NM_001110556.2(FLNA):c.2487T>C (p.Asn829=)
|
rs997424341
|
|
|
NM_001110556.2(FLNA):c.2488G>T (p.Asp830Tyr)
|
rs782470966
|
|
|
NM_001110556.2(FLNA):c.249G>A (p.Val83=)
|
|
|
|
NM_001110556.2(FLNA):c.24G>A (p.Ala8=)
|
|
|
|
NM_001110556.2(FLNA):c.2505G>T (p.Thr835=)
|
rs782013801
|
|
|
NM_001110556.2(FLNA):c.2508C>A (p.Val836=)
|
rs2148114406
|
|
|
NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala)
|
|
|
|
NM_001110556.2(FLNA):c.2519C>T (p.Pro840Leu)
|
|
|
|
NM_001110556.2(FLNA):c.2520C>T (p.Pro840=)
|
|
|
|
NM_001110556.2(FLNA):c.2523G>A (p.Arg841=)
|
rs1196772251
|
|
|
NM_001110556.2(FLNA):c.2524G>A (p.Gly842Arg)
|
rs1557178241
|
|
|
NM_001110556.2(FLNA):c.2527G>T (p.Ala843Ser)
|
|
|
|
NM_001110556.2(FLNA):c.2543T>C (p.Ile848Thr)
|
rs2067719388
|
|
|
NM_001110556.2(FLNA):c.2545A>G (p.Met849Val)
|
rs2148114357
|
|
|
NM_001110556.2(FLNA):c.2559T>C (p.Ala853=)
|
|
|
|
NM_001110556.2(FLNA):c.2565+10G>A
|
|
|
|
NM_001110556.2(FLNA):c.2565+11C>G
|
|
|
|
NM_001110556.2(FLNA):c.2565+11C>T
|
|
|
|
NM_001110556.2(FLNA):c.2565+1G>A
|
rs786205186
|
|
|
NM_001110556.2(FLNA):c.2565+6del
|
rs2148114334
|
|
|
NM_001110556.2(FLNA):c.2565G>A (p.Gln855=)
|
|
|
|
NM_001110556.2(FLNA):c.2566-12C>T
|
|
|
|
NM_001110556.2(FLNA):c.2566-13C>A
|
|
|
|
NM_001110556.2(FLNA):c.2566-15_2566-13del
|
rs2148114279
|
|
|
NM_001110556.2(FLNA):c.2566-17C>T
|
|
|
|
NM_001110556.2(FLNA):c.2566-6C>A
|
rs2067718449
|
|
|
NM_001110556.2(FLNA):c.2573C>T (p.Pro858Leu)
|
|
|
|
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)
|
|
|
|
NM_001110556.2(FLNA):c.2588G>A (p.Arg863Gln)
|
|
|
|
NM_001110556.2(FLNA):c.258G>A (p.Gln86=)
|
|
|
|
NM_001110556.2(FLNA):c.259_260insG (p.Lys87fs)
|
|
|
|
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys)
|
rs782292045
|
|
|
NM_001110556.2(FLNA):c.2601G>T (p.Glu867Asp)
|
|
|
|
NM_001110556.2(FLNA):c.2603C>T (p.Pro868Leu)
|
|
|
|
NM_001110556.2(FLNA):c.2617A>C (p.Ser873Arg)
|
rs2067717840
|
|
|
NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr)
|
|
|
|
NM_001110556.2(FLNA):c.2629G>C (p.Ala877Pro)
|
rs377046577
|
|
|
NM_001110556.2(FLNA):c.2631C>T (p.Ala877=)
|
|
|
|
NM_001110556.2(FLNA):c.2632G>A (p.Glu878Lys)
|
rs1569551740
|
|
|
NM_001110556.2(FLNA):c.2633A>G (p.Glu878Gly)
|
|
|
|
NM_001110556.2(FLNA):c.2637C>T (p.Gly879=)
|
|
|
|
NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)
|
|
|
|
NM_001110556.2(FLNA):c.2656+14C>T
|
|
|
|
NM_001110556.2(FLNA):c.2657-12T>C
|
rs2148114146
|
|
|
NM_001110556.2(FLNA):c.2657-13G>T
|
|
|
|
NM_001110556.2(FLNA):c.2657-18T>C
|
|
|
|
NM_001110556.2(FLNA):c.2659G>A (p.Val887Ile)
|
rs1156296397
|
|
|
NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe)
|
|
|
|
NM_001110556.2(FLNA):c.2670C>G (p.Gly890=)
|
rs2067716479
|
|
|
NM_001110556.2(FLNA):c.2672A>T (p.Lys891Met)
|
rs2148114112
|
|
|
NM_001110556.2(FLNA):c.2676C>T (p.Pro892=)
|
rs1557178162
|
|
|
NM_001110556.2(FLNA):c.2680C>A (p.His894Asn)
|
|
|
|
NM_001110556.2(FLNA):c.2687C>T (p.Thr896Ile)
|
rs1321859695
|
|
|
NM_001110556.2(FLNA):c.268C>T (p.His90Tyr)
|
rs2148121905
|
|
|
NM_001110556.2(FLNA):c.2690T>G (p.Val897Gly)
|
|
|
|
NM_001110556.2(FLNA):c.2691A>G (p.Val897=)
|
rs2148114099
|
|
|
NM_001110556.2(FLNA):c.2694T>C (p.Asn898=)
|
|
|
|
NM_001110556.2(FLNA):c.2695G>A (p.Ala899Thr)
|
rs2148114096
|
|
|
NM_001110556.2(FLNA):c.2713G>A (p.Gly905Ser)
|
|
|
|
NM_001110556.2(FLNA):c.271C>T (p.Arg91Cys)
|
|
|
|
NM_001110556.2(FLNA):c.2721G>T (p.Leu907=)
|
rs2067716192
|
|
|
NM_001110556.2(FLNA):c.2739A>G (p.Gly913=)
|
|
|
|
NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)
|
rs2148114051
|
|
|
NM_001110556.2(FLNA):c.2760G>A (p.Val920=)
|
|
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
|
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
|
rs1557178146
|
|
|
NM_001110556.2(FLNA):c.2767G>A (p.Val923Met)
|
|
|
|
NM_001110556.2(FLNA):c.276G>A (p.Lys92=)
|
|
|
|
NM_001110556.2(FLNA):c.2773A>T (p.Ile925Phe)
|
|
|
|
NM_001110556.2(FLNA):c.2775C>T (p.Ile925=)
|
|
|
|
NM_001110556.2(FLNA):c.2782C>T (p.His928Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.2784C>T (p.His928=)
|
|
|
|
NM_001110556.2(FLNA):c.2786A>G (p.His929Arg)
|
|
|
|
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
|
|
|
|
NM_001110556.2(FLNA):c.2789ACA[1] (p.Asn931del)
|
|
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
|
NM_001110556.2(FLNA):c.279C>T (p.His93=)
|
|
|
|
NM_001110556.2(FLNA):c.2800A>G (p.Thr934Ala)
|
|
|
|
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
|
|
|
|
NM_001110556.2(FLNA):c.2825A>T (p.Gln942Leu)
|
rs2067715037
|
|
|
NM_001110556.2(FLNA):c.2826+20C>T
|
|
|
|
NM_001110556.2(FLNA):c.2826+20_2826+21del
|
rs782202391
|
|
|
NM_001110556.2(FLNA):c.2826+3A>G
|
|
|
|
NM_001110556.2(FLNA):c.2826+4_2826+7dup
|
|
|
|
NM_001110556.2(FLNA):c.2826+7A>G
|
rs782545599
|
|
|
NM_001110556.2(FLNA):c.2827-15C>T
|
rs2067713615
|
|
|
NM_001110556.2(FLNA):c.2827-19C>G
|
|
|
|
NM_001110556.2(FLNA):c.2827-20C>T
|
|
|
|
NM_001110556.2(FLNA):c.2827-2A>C
|
rs2067713488
|
|
|
NM_001110556.2(FLNA):c.2827-4C>G
|
|
|
|
NM_001110556.2(FLNA):c.2827-4C>T
|
|
|
|
NM_001110556.2(FLNA):c.2827-8C>A
|
rs2148113817
|
|
|
NM_001110556.2(FLNA):c.2832A>C (p.Pro944=)
|
rs2148113789
|
|
|
NM_001110556.2(FLNA):c.2842A>G (p.Asn948Asp)
|
|
|
|
NM_001110556.2(FLNA):c.2847C>G (p.Val949=)
|
rs2148113770
|
|
|
NM_001110556.2(FLNA):c.2848A>G (p.Thr950Ala)
|
|
|
|
NM_001110556.2(FLNA):c.2868C>T (p.Ile956=)
|
rs2067712980
|
|
|
NM_001110556.2(FLNA):c.2873A>G (p.Lys958Arg)
|
|
|
|
NM_001110556.2(FLNA):c.2874G>A (p.Lys958=)
|
|
|
|
NM_001110556.2(FLNA):c.2875A>G (p.Ser959Gly)
|
|
|
|
NM_001110556.2(FLNA):c.2877C>T (p.Ser959=)
|
|
|
|
NM_001110556.2(FLNA):c.2879C>G (p.Pro960Arg)
|
|
|
|
NM_001110556.2(FLNA):c.2907G>A (p.Leu969=)
|
|
|
|
NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu)
|
|
|
|
NM_001110556.2(FLNA):c.2930C>A (p.Ser977Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.2933G>A (p.Gly978Asp)
|
|
|
|
NM_001110556.2(FLNA):c.2935C>G (p.Leu979Val)
|
|
|
|
NM_001110556.2(FLNA):c.2943G>A (p.Glu981=)
|
|
|
|
NM_001110556.2(FLNA):c.2945-10G>A
|
rs1603361583
|
|
|
NM_001110556.2(FLNA):c.2945-15dup
|
rs782372275
|
|
|
NM_001110556.2(FLNA):c.2945-7T>G
|
|
|
|
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
|
rs2148113628
|
|
|
NM_001110556.2(FLNA):c.2949G>A (p.Val983=)
|
|
|
|
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu)
|
rs782513930
|
|
|
NM_001110556.2(FLNA):c.2952C>T (p.Asp984=)
|
rs782513930
|
|
|
NM_001110556.2(FLNA):c.2960A>G (p.Lys987Arg)
|
|
|
|
NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)
|
rs2148113604
|
|
|
NM_001110556.2(FLNA):c.2965C>A (p.Gln989Lys)
|
rs1557178045
|
|
|
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
|
rs1557178045
|
|
|
NM_001110556.2(FLNA):c.2971T>C (p.Phe991Leu)
|
rs2067711510
|
|
|
NM_001110556.2(FLNA):c.2976A>G (p.Thr992=)
|
rs1557178043
|
|
|
NM_001110556.2(FLNA):c.2997T>C (p.Gly999=)
|
|
|
|
NM_001110556.2(FLNA):c.3021G>C (p.Lys1007Asn)
|
|
|
|
NM_001110556.2(FLNA):c.302A>G (p.Gln101Arg)
|
rs2067801711
|
|
|
NM_001110556.2(FLNA):c.3032C>G (p.Pro1011Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala)
|
rs1364359427
|
|
|
NM_001110556.2(FLNA):c.305T>G (p.Met102Arg)
|
rs2067801675
|
|
|
NM_001110556.2(FLNA):c.3060G>A (p.Val1020=)
|
|
|
|
NM_001110556.2(FLNA):c.3070C>G (p.Leu1024Val)
|
|
|
|
NM_001110556.2(FLNA):c.3071T>G (p.Leu1024Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3074G>A (p.Gly1025Glu)
|
rs2148113514
|
|
|
NM_001110556.2(FLNA):c.3081C>G (p.Asp1027Glu)
|
|
|
|
NM_001110556.2(FLNA):c.3083A>G (p.Asn1028Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3086G>A (p.Ser1029Asn)
|
|
|
|
NM_001110556.2(FLNA):c.3090G>A (p.Val1030=)
|
|
|
|
NM_001110556.2(FLNA):c.3093G>A (p.Val1031=)
|
rs1569551722
|
|
|
NM_001110556.2(FLNA):c.3109G>C (p.Glu1037Gln)
|
|
|
|
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
|
|
|
|
NM_001110556.2(FLNA):c.3117G>A (p.Gly1039=)
|
|
|
|
NM_001110556.2(FLNA):c.3120C>T (p.Pro1040=)
|
rs782814092
|
|
|
NM_001110556.2(FLNA):c.3124G>A (p.Glu1042Lys)
|
|
|
|
NM_001110556.2(FLNA):c.3125A>G (p.Glu1042Gly)
|
|
|
|
NM_001110556.2(FLNA):c.3127G>T (p.Val1043Leu)
|
rs1475916528
|
|
|
NM_001110556.2(FLNA):c.3138C>T (p.Thr1046=)
|
rs2148113449
|
|
|
NM_001110556.2(FLNA):c.3139T>C (p.Tyr1047His)
|
rs2067710102
|
|
|
NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=)
|
|
|
|
NM_001110556.2(FLNA):c.3150G>A (p.Val1050=)
|
|
|
|
NM_001110556.2(FLNA):c.3153C>T (p.Pro1051=)
|
rs782289085
|
|
|
NM_001110556.2(FLNA):c.3158C>G (p.Pro1053Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3167C>T (p.Pro1056Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3189C>T (p.Ala1063=)
|
|
|
|
NM_001110556.2(FLNA):c.318C>T (p.Asn106=)
|
rs1603363887
|
|
|
NM_001110556.2(FLNA):c.3203G>C (p.Ser1068Thr)
|
|
|
|
NM_001110556.2(FLNA):c.3207+10G>A
|
|
|
|
NM_001110556.2(FLNA):c.3207+13T>C
|
rs1557177989
|
|
|
NM_001110556.2(FLNA):c.3207+5T>C
|
rs782555499
|
|
|
NM_001110556.2(FLNA):c.3207+6T>A
|
|
|
|
NM_001110556.2(FLNA):c.3207+6del
|
|
|
|
NM_001110556.2(FLNA):c.3207+7G>A
|
rs2067709460
|
|
|
NM_001110556.2(FLNA):c.3207+9G>A
|
rs1557177993
|
|
|
NM_001110556.2(FLNA):c.3208-5del
|
rs781907036
|
|
|
NM_001110556.2(FLNA):c.3208-9T>C
|
rs1557177816
|
|
|
NM_001110556.2(FLNA):c.3215C>T (p.Ala1072Val)
|
|
|
|
NM_001110556.2(FLNA):c.321G>A (p.Val107=)
|
|
|
|
NM_001110556.2(FLNA):c.3223C>T (p.Pro1075Ser)
|
rs1336237133
|
|
|
NM_001110556.2(FLNA):c.3228G>T (p.Gly1076=)
|
|
|
|
NM_001110556.2(FLNA):c.323C>T (p.Ser108Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3248G>A (p.Gly1083Asp)
|
rs2148112438
|
|
|
NM_001110556.2(FLNA):c.3249C>T (p.Gly1083=)
|
|
|
|
NM_001110556.2(FLNA):c.3251C>G (p.Ser1084Cys)
|
|
|
|
NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3255C>A (p.Pro1085=)
|
|
|
|
NM_001110556.2(FLNA):c.3255C>G (p.Pro1085=)
|
rs782231907
|
|
|
NM_001110556.2(FLNA):c.3255C>T (p.Pro1085=)
|
rs782231907
|
|
|
NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr)
|
rs782632029
|
|
|
NM_001110556.2(FLNA):c.3256G>T (p.Ala1086Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3259C>G (p.Arg1087Gly)
|
|
|
|
NM_001110556.2(FLNA):c.3270_3271delinsTA (p.Asp1091Asn)
|
|
|
|
NM_001110556.2(FLNA):c.3275C>G (p.Thr1092Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3280G>T (p.Gly1094Cys)
|
rs2067697829
|
|
|
NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=)
|
rs369583365
|
|
|
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)
|
rs1603361195
|
|
|
NM_001110556.2(FLNA):c.3298C>T (p.Leu1100=)
|
|
|
|
NM_001110556.2(FLNA):c.3300G>A (p.Leu1100=)
|
rs2148112379
|
|
|
NM_001110556.2(FLNA):c.3301G>T (p.Gly1101Cys)
|
|
|
|
NM_001110556.2(FLNA):c.3306G>T (p.Leu1102=)
|
rs782062750
|
|
|
NM_001110556.2(FLNA):c.3310G>A (p.Val1104Met)
|
rs2148112364
|
|
|
NM_001110556.2(FLNA):c.3318C>T (p.Gly1106=)
|
rs1557177781
|
|
|
NM_001110556.2(FLNA):c.3327G>A (p.Glu1109=)
|
rs2148112356
|
|
|
NM_001110556.2(FLNA):c.3336C>G (p.Leu1112=)
|
|
|
|
NM_001110556.2(FLNA):c.3337G>A (p.Glu1113Lys)
|
rs1222602089
|
|
|
NM_001110556.2(FLNA):c.3342C>G (p.Cys1114Trp)
|
|
|
|
NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu)
|
rs797044684
|
|
|
NM_001110556.2(FLNA):c.3348C>T (p.Asp1116=)
|
rs797044684
|
|
|
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
|
rs2148121859
|
|
|
NM_001110556.2(FLNA):c.3352G>A (p.Gly1118Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3362C>T (p.Thr1121Ile)
|
rs2067696805
|
|
|
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=)
|
rs372874251
|
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
|
NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys)
|
|
|
|
NM_001110556.2(FLNA):c.338T>C (p.Phe113Ser)
|
rs1557180178
|
|
|
NM_001110556.2(FLNA):c.3393C>T (p.Pro1131=)
|
|
|
|
NM_001110556.2(FLNA):c.3396G>T (p.Gly1132=)
|
rs2148112288
|
|
|
NM_001110556.2(FLNA):c.33C>T (p.Ser11=)
|
|
|
|
NM_001110556.2(FLNA):c.3406A>G (p.Ile1136Val)
|
rs782395522
|
|
|
NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe)
|
|
|
|
NM_001110556.2(FLNA):c.3408C>T (p.Ile1136=)
|
|
|
|
NM_001110556.2(FLNA):c.3409A>G (p.Asn1137Asp)
|
|
|
|
NM_001110556.2(FLNA):c.3422C>G (p.Ala1141Gly)
|
|
|
|
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=)
|
rs183899917
|
|
|
NM_001110556.2(FLNA):c.3441C>T (p.Gly1147=)
|
|
|
|
NM_001110556.2(FLNA):c.3451A>G (p.Lys1151Glu)
|
rs2067695794
|
|
|
NM_001110556.2(FLNA):c.3455C>T (p.Ala1152Val)
|
rs1557177751
|
|
|
NM_001110556.2(FLNA):c.345C>T (p.Asp115=)
|
rs1603363881
|
|
|
NM_001110556.2(FLNA):c.3467C>G (p.Pro1156Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3471C>T (p.Cys1157=)
|
rs2148112209
|
|
|
NM_001110556.2(FLNA):c.3478G>A (p.Ala1160Thr)
|
rs2148112194
|
|
|
NM_001110556.2(FLNA):c.347G>T (p.Arg116Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu)
|
rs2148112185
|
|
|
NM_001110556.2(FLNA):c.3489C>T (p.Val1163=)
|
|
|
|
NM_001110556.2(FLNA):c.3490A>G (p.Lys1164Glu)
|
|
|
|
NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3497C>T (p.Ser1166Leu)
|
rs2148112179
|
|
|
NM_001110556.2(FLNA):c.3498A>C (p.Ser1166=)
|
|
|
|
NM_001110556.2(FLNA):c.3498A>G (p.Ser1166=)
|
|
|
|
NM_001110556.2(FLNA):c.34G>T (p.Ala12Ser)
|
rs868975259
|
|
|
NM_001110556.2(FLNA):c.3502C>T (p.Pro1168Ser)
|
rs2067695264
|
|
|
NM_001110556.2(FLNA):c.3514C>G (p.Arg1172Gly)
|
rs1557177743
|
|
|
NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp)
|
|
|
|
NM_001110556.2(FLNA):c.3529G>A (p.Glu1177Lys)
|
rs1557177738
|
|
|
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)
|
rs1557177738
|
|
|
NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=)
|
|
|
|
NM_001110556.2(FLNA):c.3552C>T (p.Asp1184=)
|
|
|
|
NM_001110556.2(FLNA):c.3561C>G (p.Ser1187Arg)
|
|
|
|
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=)
|
rs1396701849
|
|
|
NM_001110556.2(FLNA):c.3567C>T (p.Gly1189=)
|
|
|
|
NM_001110556.2(FLNA):c.3574G>A (p.Glu1192Lys)
|
|
|
|
NM_001110556.2(FLNA):c.3588G>C (p.Glu1196Asp)
|
rs2067694581
|
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
|
NM_001110556.2(FLNA):c.35C>A (p.Ala12Glu)
|
|
|
|
NM_001110556.2(FLNA):c.3606G>A (p.Gly1202=)
|
rs2148112110
|
|
|
NM_001110556.2(FLNA):c.3616G>A (p.Glu1206Lys)
|
|
|
|
NM_001110556.2(FLNA):c.3617A>G (p.Glu1206Gly)
|
rs863223622
|
|
|
NM_001110556.2(FLNA):c.3619G>T (p.Val1207Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3634C>T (p.His1212Tyr)
|
rs782721742
|
|
|
NM_001110556.2(FLNA):c.3637G>A (p.Gly1213Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3651C>T (p.His1217=)
|
|
|
|
NM_001110556.2(FLNA):c.3653C>G (p.Thr1218Ser)
|
rs2067693792
|
|
|
NM_001110556.2(FLNA):c.3660C>T (p.Thr1220=)
|
|
|
|
NM_001110556.2(FLNA):c.3664A>G (p.Ile1222Val)
|
|
|
|
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)
|
rs1060500716
|
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
|
NM_001110556.2(FLNA):c.3671T>G (p.Leu1224Arg)
|
rs2148112042
|
|
|
NM_001110556.2(FLNA):c.3672C>T (p.Leu1224=)
|
|
|
|
NM_001110556.2(FLNA):c.3677C>T (p.Pro1226Leu)
|
rs2067693582
|
|
|
NM_001110556.2(FLNA):c.3681G>A (p.Gly1227=)
|
rs1273882054
|
|
|
NM_001110556.2(FLNA):c.3686A>G (p.Tyr1229Cys)
|
|
|
|
NM_001110556.2(FLNA):c.36A>T (p.Ala12=)
|
rs1603363987
|
|
|
NM_001110556.2(FLNA):c.3707G>C (p.Gly1236Ala)
|
|
|
|
NM_001110556.2(FLNA):c.373+10G>A
|
rs368292402
|
|
|
NM_001110556.2(FLNA):c.373+19C>T
|
|
|
|
NM_001110556.2(FLNA):c.373+7dup
|
|
|
|
NM_001110556.2(FLNA):c.3737A>C (p.Lys1246Thr)
|
|
|
|
NM_001110556.2(FLNA):c.374-10C>A
|
rs782709382
|
|
|
NM_001110556.2(FLNA):c.374-12T>G
|
rs1057523243
|
|
|
NM_001110556.2(FLNA):c.374-13C>G
|
|
|
|
NM_001110556.2(FLNA):c.374-13C>T
|
|
|
|
NM_001110556.2(FLNA):c.374-16A>T
|
|
|
|
NM_001110556.2(FLNA):c.374-17C>T
|
|
|
|
NM_001110556.2(FLNA):c.374-2A>G
|
|
|
|
NM_001110556.2(FLNA):c.374-8_374-6del
|
|
|
|
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
|
rs2067693064
|
|
|
NM_001110556.2(FLNA):c.3743A>G (p.Gln1248Arg)
|
rs2067693046
|
|
|
NM_001110556.2(FLNA):c.3759G>A (p.Val1253=)
|
rs2148111946
|
|
|
NM_001110556.2(FLNA):c.375C>T (p.Asp125=)
|
rs2148119515
|
|
|
NM_001110556.2(FLNA):c.3763A>G (p.Thr1255Ala)
|
rs2067692917
|
|
|
NM_001110556.2(FLNA):c.3766T>C (p.Ser1256Pro)
|
rs2148111936
|
|
|
NM_001110556.2(FLNA):c.3767C>A (p.Ser1256Tyr)
|
rs1557177666
|
|
|
NM_001110556.2(FLNA):c.3771T>A (p.Gly1257=)
|
|
|
|
NM_001110556.2(FLNA):c.3775C>T (p.Gln1259Ter)
|
rs1557177663
|
|
|
NM_001110556.2(FLNA):c.3776A>G (p.Gln1259Arg)
|
rs2148111919
|
|
|
NM_001110556.2(FLNA):c.3780C>G (p.Cys1260Trp)
|
|
|
|
NM_001110556.2(FLNA):c.3798G>A (p.Glu1266=)
|
|
|
|
NM_001110556.2(FLNA):c.3805+10C>T
|
rs1603361041
|
|
|
NM_001110556.2(FLNA):c.3805+15C>G
|
rs144968452
|
|
|
NM_001110556.2(FLNA):c.3805+15C>T
|
rs144968452
|
|
|
NM_001110556.2(FLNA):c.3805+1G>A
|
|
|
|
NM_001110556.2(FLNA):c.3805+20G>A
|
|
|
|
NM_001110556.2(FLNA):c.3805+2T>C
|
|
|
|
NM_001110556.2(FLNA):c.3806-14C>G
|
|
|
|
NM_001110556.2(FLNA):c.3806-15T>G
|
|
|
|
NM_001110556.2(FLNA):c.3806-20T>G
|
|
|
|
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs)
|
rs1557177636
|
|
|
NM_001110556.2(FLNA):c.3815G>T (p.Arg1272Leu)
|
|
|
|
NM_001110556.2(FLNA):c.3822C>T (p.Ala1274=)
|
|
|
|
NM_001110556.2(FLNA):c.3827C>T (p.Thr1276Ile)
|
|
|
|
NM_001110556.2(FLNA):c.3844G>A (p.Ala1282Thr)
|
rs782466840
|
|
|
NM_001110556.2(FLNA):c.3847C>T (p.Arg1283Trp)
|
|
|
|
NM_001110556.2(FLNA):c.3848G>A (p.Arg1283Gln)
|
|
|
|
NM_001110556.2(FLNA):c.3852T>C (p.Ala1284=)
|
|
|
|
NM_001110556.2(FLNA):c.3855G>A (p.Leu1285=)
|
|
|
|
NM_001110556.2(FLNA):c.3855G>C (p.Leu1285=)
|
|
|
|
NM_001110556.2(FLNA):c.3856A>T (p.Thr1286Ser)
|
rs2067691272
|
|
|
NM_001110556.2(FLNA):c.3857C>T (p.Thr1286Ile)
|
|
|
|
NM_001110556.2(FLNA):c.3858A>G (p.Thr1286=)
|
rs2148111775
|
|
|
NM_001110556.2(FLNA):c.3861G>T (p.Gln1287His)
|
rs1557177627
|
|
|
NM_001110556.2(FLNA):c.3863C>G (p.Thr1288Ser)
|
rs2148111768
|
|
|
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter)
|
rs1557177623
|
|
|
NM_001110556.2(FLNA):c.3870G>C (p.Gly1290=)
|
|
|
|
NM_001110556.2(FLNA):c.387C>G (p.Ile129Met)
|
|
|
|
NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr)
|
|
|
|
NM_001110556.2(FLNA):c.388G>A (p.Val130Met)
|
|
|
|
NM_001110556.2(FLNA):c.3891G>C (p.Val1297=)
|
|
|
|
NM_001110556.2(FLNA):c.3893C>T (p.Ala1298Val)
|
rs2067690791
|
|
|
NM_001110556.2(FLNA):c.3923A>C (p.Tyr1308Ser)
|
|
|
|
NM_001110556.2(FLNA):c.3928C>G (p.Gln1310Glu)
|
|
|
|
NM_001110556.2(FLNA):c.3937G>T (p.Gly1313Cys)
|
|
|
|
NM_001110556.2(FLNA):c.3941A>G (p.Asp1314Gly)
|
|
|
|
NM_001110556.2(FLNA):c.3946A>G (p.Met1316Val)
|
rs2148111681
|
|
|
NM_001110556.2(FLNA):c.3957G>A (p.Val1319=)
|
rs2148111675
|
|
|
NM_001110556.2(FLNA):c.3965C>T (p.Thr1322Met)
|
|
|
|
NM_001110556.2(FLNA):c.3972C>T (p.Tyr1324=)
|
|
|
|
NM_001110556.2(FLNA):c.3979+12G>A
|
|
|
|
NM_001110556.2(FLNA):c.3979+15C>T
|
|
|
|
NM_001110556.2(FLNA):c.3979+17C>A
|
|
|
|
NM_001110556.2(FLNA):c.3979+19del
|
rs2148111638
|
|
|
NM_001110556.2(FLNA):c.3979+5G>A
|
rs1569551642
|
|
|
NM_001110556.2(FLNA):c.3979+6T>C
|
rs2148111652
|
|
|
NM_001110556.2(FLNA):c.3979+8_3979+11del
|
rs781854538
|
|
|
NM_001110556.2(FLNA):c.3980-10A>G
|
rs1603360960
|
|
|
NM_001110556.2(FLNA):c.3980-4C>T
|
rs2148111568
|
|
|
NM_001110556.2(FLNA):c.3980-6C>G
|
|
|
|
NM_001110556.2(FLNA):c.3980-6C>T
|
|
|
|
NM_001110556.2(FLNA):c.3984G>A (p.Leu1328=)
|
|
|
|
NM_001110556.2(FLNA):c.3987C>T (p.His1329=)
|
|
|
|
NM_001110556.2(FLNA):c.3991G>A (p.Val1331Met)
|
rs1569551635
|
|
|
NM_001110556.2(FLNA):c.4011C>T (p.Gly1337=)
|
|
|
|
NM_001110556.2(FLNA):c.4018G>A (p.Val1340Met)
|
rs782342052
|
|
|
NM_001110556.2(FLNA):c.4024A>G (p.Ser1342Gly)
|
|
|
|
NM_001110556.2(FLNA):c.4026C>A (p.Ser1342Arg)
|
|
|
|
NM_001110556.2(FLNA):c.402G>A (p.Leu134=)
|
|
|
|
NM_001110556.2(FLNA):c.4032C>T (p.Pro1344=)
|
rs368597778
|
|
|
NM_001110556.2(FLNA):c.4033T>G (p.Phe1345Val)
|
rs2148111513
|
|
|
NM_001110556.2(FLNA):c.4050C>T (p.Thr1350=)
|
rs1603360933
|
|
|
NM_001110556.2(FLNA):c.4056C>G (p.Gly1352=)
|
rs2148111494
|
|
|
NM_001110556.2(FLNA):c.4064C>T (p.Pro1355Leu)
|
|
|
|
NM_001110556.2(FLNA):c.4068C>T (p.Ser1356=)
|
rs2148111479
|
|
|
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln)
|
rs782490288
|
|
|
NM_001110556.2(FLNA):c.4083C>T (p.His1361=)
|
|
|
|
NM_001110556.2(FLNA):c.4084G>A (p.Gly1362Arg)
|
rs2148111460
|
|
|
NM_001110556.2(FLNA):c.4093A>G (p.Ile1365Val)
|
rs782815741
|
|
|
NM_001110556.2(FLNA):c.410T>A (p.Ile137Asn)
|
rs1569551877
|
|
|
NM_001110556.2(FLNA):c.4112A>C (p.Asn1371Thr)
|
|
|
|
NM_001110556.2(FLNA):c.4113C>T (p.Asn1371=)
|
rs1557177508
|
|
|
NM_001110556.2(FLNA):c.4117_4125del (p.Pro1373_Lys1375del)
|
|
|
|
NM_001110556.2(FLNA):c.4121A>G (p.Asn1374Ser)
|
rs2067687994
|
|
|
NM_001110556.2(FLNA):c.4124A>G (p.Lys1375Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4125G>A (p.Lys1375=)
|
rs2148111427
|
|
|
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
|
rs2148111417
|
|
|
NM_001110556.2(FLNA):c.4142+10C>T
|
|
|
|
NM_001110556.2(FLNA):c.4142+15A>G
|
rs899206171
|
|
|
NM_001110556.2(FLNA):c.4142+17G>A
|
|
|
|
NM_001110556.2(FLNA):c.4142+1G>A
|
rs1603360906
|
|
|
NM_001110556.2(FLNA):c.4142+20C>T
|
|
|
|
NM_001110556.2(FLNA):c.4142+8A>C
|
|
|
|
NM_001110556.2(FLNA):c.4143-19G>T
|
|
|
|
NM_001110556.2(FLNA):c.4143-1G>T
|
rs1557177485
|
|
|
NM_001110556.2(FLNA):c.4143-20C>A
|
|
|
|
NM_001110556.2(FLNA):c.4143G>C (p.Arg1381Ser)
|
|
|
|
NM_001110556.2(FLNA):c.4147G>A (p.Ala1383Thr)
|
|
|
|
NM_001110556.2(FLNA):c.4152C>T (p.Gly1384=)
|
rs2067687057
|
|
|
NM_001110556.2(FLNA):c.4155G>A (p.Thr1385=)
|
rs782110572
|
|
|
NM_001110556.2(FLNA):c.4155G>T (p.Thr1385=)
|
rs782110572
|
|
|
NM_001110556.2(FLNA):c.4157G>A (p.Gly1386Asp)
|
rs2067686967
|
|
|
NM_001110556.2(FLNA):c.4165G>T (p.Gly1389Cys)
|
|
|
|
NM_001110556.2(FLNA):c.4174G>A (p.Val1392Ile)
|
rs1603360869
|
|
|
NM_001110556.2(FLNA):c.417C>T (p.Gly139=)
|
|
|
|
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe)
|
rs2148119483
|
|
|
NM_001110556.2(FLNA):c.4192G>C (p.Ala1398Pro)
|
|
|
|
NM_001110556.2(FLNA):c.4209G>C (p.Met1403Ile)
|
|
|
|
NM_001110556.2(FLNA):c.4215C>T (p.Asn1405=)
|
|
|
|
NM_001110556.2(FLNA):c.4234G>A (p.Val1412Ile)
|
rs2067686225
|
|
|
NM_001110556.2(FLNA):c.4243A>G (p.Ile1415Val)
|
rs2067686132
|
|
|
NM_001110556.2(FLNA):c.4255G>A (p.Ala1419Thr)
|
|
|
|
NM_001110556.2(FLNA):c.4278C>T (p.Val1426=)
|
|
|
|
NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)
|
rs2148111202
|
|
|
NM_001110556.2(FLNA):c.4283A>G (p.Tyr1428Cys)
|
|
|
|
NM_001110556.2(FLNA):c.42C>T (p.Gly14=)
|
|
|
|
NM_001110556.2(FLNA):c.4303+13C>T
|
rs2067685375
|
|
|
NM_001110556.2(FLNA):c.4303+14G>T
|
|
|
|
NM_001110556.2(FLNA):c.4303+6G>T
|
|
|
|
NM_001110556.2(FLNA):c.4303+7_4303+9del
|
rs782078865
|
|
|
NM_001110556.2(FLNA):c.4304-12C>T
|
|
|
|
NM_001110556.2(FLNA):c.4304-5C>T
|
|
|
|
NM_001110556.2(FLNA):c.4304-8A>G
|
rs2148111094
|
|
|
NM_001110556.2(FLNA):c.4311T>C (p.Pro1437=)
|
rs953607378
|
|
|
NM_001110556.2(FLNA):c.4320C>T (p.Val1440=)
|
|
|
|
NM_001110556.2(FLNA):c.4327C>G (p.His1443Asp)
|
|
|
|
NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=)
|
|
|
|
NM_001110556.2(FLNA):c.4333G>A (p.Val1445Met)
|
|
|
|
NM_001110556.2(FLNA):c.4334T>G (p.Val1445Gly)
|
|
|
|
NM_001110556.2(FLNA):c.4338A>G (p.Thr1446=)
|
|
|
|
NM_001110556.2(FLNA):c.4343C>G (p.Ala1448Gly)
|
rs201886752
|
|
|
NM_001110556.2(FLNA):c.4353C>G (p.Val1451=)
|
rs1028999299
|
|
|
NM_001110556.2(FLNA):c.4353C>T (p.Val1451=)
|
rs1028999299
|
|
|
NM_001110556.2(FLNA):c.4354A>G (p.Lys1452Glu)
|
|
|
|
NM_001110556.2(FLNA):c.435C>A (p.Ile145=)
|
|
|
|
NM_001110556.2(FLNA):c.4369G>A (p.Gly1457Ser)
|
rs374447840
|
|
|
NM_001110556.2(FLNA):c.4372C>G (p.Leu1458Val)
|
|
|
|
NM_001110556.2(FLNA):c.4375A>G (p.Ser1459Gly)
|
|
|
|
NM_001110556.2(FLNA):c.4380A>G (p.Pro1460=)
|
|
|
|
NM_001110556.2(FLNA):c.4388T>C (p.Val1463Ala)
|
rs2067684009
|
|
|
NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His)
|
|
|
|
NM_001110556.2(FLNA):c.4392T>A (p.Arg1464=)
|
|
|
|
NM_001110556.2(FLNA):c.43G>T (p.Ala15Ser)
|
|
|
|
NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=)
|
|
|
|
NM_001110556.2(FLNA):c.4438G>A (p.Val1480Met)
|
|
|
|
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)
|
|
|
|
NM_001110556.2(FLNA):c.4444C>T (p.Pro1482Ser)
|
rs782349011
|
|
|
NM_001110556.2(FLNA):c.4449G>T (p.Leu1483Phe)
|
|
|
|
NM_001110556.2(FLNA):c.4452G>C (p.Gln1484His)
|
rs1569551606
|
|
|
NM_001110556.2(FLNA):c.4453G>A (p.Val1485Ile)
|
|
|
|
NM_001110556.2(FLNA):c.4455C>T (p.Val1485=)
|
|
|
|
NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)
|
|
|
|
NM_001110556.2(FLNA):c.4465G>A (p.Gly1489Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4465G>C (p.Gly1489Arg)
|
rs782276039
|
|
|
NM_001110556.2(FLNA):c.4468C>T (p.Pro1490Ser)
|
|
|
|
NM_001110556.2(FLNA):c.4474+7G>A
|
|
|
|
NM_001110556.2(FLNA):c.4474+8_4474+9delinsAG
|
|
|
|
NM_001110556.2(FLNA):c.4475-11G>T
|
rs2148110693
|
|
|
NM_001110556.2(FLNA):c.4475-15TGGGGC[3]
|
rs2067680523
|
|
|
NM_001110556.2(FLNA):c.4475G>A (p.Gly1492Asp)
|
|
|
|
NM_001110556.2(FLNA):c.4479G>C (p.Leu1493=)
|
|
|
|
NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=)
|
|
|
|
NM_001110556.2(FLNA):c.44C>A (p.Ala15Glu)
|
|
|
|
NM_001110556.2(FLNA):c.4506C>G (p.Asn1502Lys)
|
rs200857989
|
|
|
NM_001110556.2(FLNA):c.4507G>A (p.Ala1503Thr)
|
|
|
|
NM_001110556.2(FLNA):c.4518C>T (p.Thr1506=)
|
|
|
|
NM_001110556.2(FLNA):c.4520A>G (p.Gln1507Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4523C>T (p.Thr1508Ile)
|
|
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
|
NM_001110556.2(FLNA):c.4528A>T (p.Asn1510Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.4543C>A (p.Arg1515=)
|
rs186214592
|
|
|
NM_001110556.2(FLNA):c.4543C>T (p.Arg1515Ter)
|
rs186214592
|
|
|
NM_001110556.2(FLNA):c.4544G>A (p.Arg1515Gln)
|
rs782597696
|
|
|
NM_001110556.2(FLNA):c.4546G>A (p.Glu1516Lys)
|
|
|
|
NM_001110556.2(FLNA):c.4557C>T (p.Tyr1519=)
|
|
|
|
NM_001110556.2(FLNA):c.4561A>G (p.Ile1521Val)
|
rs2148110566
|
|
|
NM_001110556.2(FLNA):c.4567G>A (p.Val1523Ile)
|
|
|
|
NM_001110556.2(FLNA):c.4588G>A (p.Val1530Ile)
|
rs2067679230
|
|
|
NM_001110556.2(FLNA):c.4589T>C (p.Val1530Ala)
|
rs1603360612
|
|
|
NM_001110556.2(FLNA):c.4589T>G (p.Val1530Gly)
|
rs1603360612
|
|
|
NM_001110556.2(FLNA):c.4593C>T (p.Pro1531=)
|
|
|
|
NM_001110556.2(FLNA):c.4596_4598+5del
|
rs1557177279
|
|
|
NM_001110556.2(FLNA):c.4598+13G>A
|
|
|
|
NM_001110556.2(FLNA):c.4598+1G>A
|
|
|
|
NM_001110556.2(FLNA):c.4599-12A>G
|
|
|
|
NM_001110556.2(FLNA):c.4599-8C>T
|
|
|
|
NM_001110556.2(FLNA):c.45G>T (p.Ala15=)
|
|
|
|
NM_001110556.2(FLNA):c.4602C>T (p.Pro1534=)
|
|
|
|
NM_001110556.2(FLNA):c.4605C>T (p.Phe1535=)
|
|
|
|
NM_001110556.2(FLNA):c.461T>G (p.Met154Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4623T>C (p.Pro1541=)
|
|
|
|
NM_001110556.2(FLNA):c.4632T>C (p.Asp1544=)
|
|
|
|
NM_001110556.2(FLNA):c.463T>G (p.Trp155Gly)
|
rs2148119440
|
|
|
NM_001110556.2(FLNA):c.4644G>A (p.Val1548=)
|
rs2067678093
|
|
|
NM_001110556.2(FLNA):c.4646A>G (p.Lys1549Arg)
|
rs2148110417
|
|
|
NM_001110556.2(FLNA):c.464G>C (p.Trp155Ser)
|
rs1557179668
|
|
|
NM_001110556.2(FLNA):c.4651A>C (p.Ser1551Arg)
|
rs1557177249
|
|
|
NM_001110556.2(FLNA):c.4653T>C (p.Ser1551=)
|
rs782307585
|
|
|
NM_001110556.2(FLNA):c.4661G>A (p.Gly1554Glu)
|
|
|
|
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala)
|
rs782484503
|
|
|
NM_001110556.2(FLNA):c.468C>T (p.Asp156=)
|
|
|
|
NM_001110556.2(FLNA):c.4691T>G (p.Leu1564Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4706C>A (p.Thr1569Asn)
|
|
|
|
NM_001110556.2(FLNA):c.4707C>T (p.Thr1569=)
|
|
|
|
NM_001110556.2(FLNA):c.4710C>A (p.Ile1570=)
|
rs1001333218
|
|
|
NM_001110556.2(FLNA):c.4710C>T (p.Ile1570=)
|
rs1001333218
|
|
|
NM_001110556.2(FLNA):c.4715C>G (p.Ala1572Gly)
|
|
|
|
NM_001110556.2(FLNA):c.471GGA[2] (p.Glu159del)
|
rs2067775754
|
|
|
NM_001110556.2(FLNA):c.4721_4732del (p.Asp1574_Glu1577del)
|
rs1557177229
|
|
|
NM_001110556.2(FLNA):c.4737G>A (p.Leu1579=)
|
rs201904661
|
|
|
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=)
|
rs201904661
|
|
|
NM_001110556.2(FLNA):c.473A>G (p.Glu158Gly)
|
rs2148119426
|
|
|
NM_001110556.2(FLNA):c.4746C>T (p.Val1582=)
|
|
|
|
NM_001110556.2(FLNA):c.4754C>T (p.Thr1585Met)
|
rs2067677205
|
|
|
NM_001110556.2(FLNA):c.4755+10G>A
|
|
|
|
NM_001110556.2(FLNA):c.4755+3G>C
|
|
|
|
NM_001110556.2(FLNA):c.4755+8C>T
|
rs2050036287
|
|
|
NM_001110556.2(FLNA):c.4755+9C>T
|
|
|
|
NM_001110556.2(FLNA):c.4756-12T>C
|
|
|
|
NM_001110556.2(FLNA):c.4756-13del
|
rs782367104
|
|
|
NM_001110556.2(FLNA):c.4756-19C>T
|
rs2148109861
|
|
|
NM_001110556.2(FLNA):c.4762G>A (p.Glu1588Lys)
|
|
|
|
NM_001110556.2(FLNA):c.4770G>C (p.Lys1590Asn)
|
|
|
|
NM_001110556.2(FLNA):c.4772C>G (p.Pro1591Arg)
|
|
|
|
NM_001110556.2(FLNA):c.4774A>G (p.Lys1592Glu)
|
rs1311666006
|
|
|
NM_001110556.2(FLNA):c.4778A>C (p.Lys1593Thr)
|
|
|
|
NM_001110556.2(FLNA):c.477G>C (p.Glu159Asp)
|
rs2067775793
|
|
|
NM_001110556.2(FLNA):c.4785C>T (p.His1595=)
|
|
|
|
NM_001110556.2(FLNA):c.4788C>T (p.Ile1596=)
|
rs1557177108
|
|
|
NM_001110556.2(FLNA):c.47C>T (p.Ala16Val)
|
|
|
|
NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met)
|
|
|
|
NM_001110556.2(FLNA):c.4809G>T (p.Thr1603=)
|
|
|
|
NM_001110556.2(FLNA):c.4814C>A (p.Thr1605Lys)
|
rs2148109766
|
|
|
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
|
rs781789823
|
|
|
NM_001110556.2(FLNA):c.4834G>A (p.Val1612Met)
|
rs782082407
|
|
|
NM_001110556.2(FLNA):c.4834G>C (p.Val1612Leu)
|
rs782082407
|
|
|
NM_001110556.2(FLNA):c.4834G>T (p.Val1612Leu)
|
|
|
|
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs)
|
rs1557177086
|
|
|
NM_001110556.2(FLNA):c.484G>A (p.Glu162Lys)
|
|
|
|
NM_001110556.2(FLNA):c.4852A>G (p.Ile1618Val)
|
|
|
|
NM_001110556.2(FLNA):c.4854C>T (p.Ile1618=)
|
|
|
|
NM_001110556.2(FLNA):c.4855C>T (p.Leu1619Phe)
|
rs2148109695
|
|
|
NM_001110556.2(FLNA):c.4860C>A (p.Ile1620=)
|
|
|
|
NM_001110556.2(FLNA):c.4867G>A (p.Gly1623Ser)
|
|
|
|
NM_001110556.2(FLNA):c.486G>A (p.Glu162=)
|
|
|
|
NM_001110556.2(FLNA):c.487G>A (p.Ala163Thr)
|
rs1569551875
|
|
|
NM_001110556.2(FLNA):c.4887C>T (p.Phe1629=)
|
rs1603360385
|
|
|
NM_001110556.2(FLNA):c.4897C>T (p.Arg1633Cys)
|
|
|
|
NM_001110556.2(FLNA):c.4900G>A (p.Val1634Met)
|
|
|
|
NM_001110556.2(FLNA):c.4911G>C (p.Val1637=)
|
rs2067671791
|
|
|
NM_001110556.2(FLNA):c.4916C>T (p.Thr1639Ile)
|
rs2067671701
|
|
|
NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=)
|
rs786205196
|
|
|
NM_001110556.2(FLNA):c.4935C>T (p.Cys1645=)
|
|
|
|
NM_001110556.2(FLNA):c.4936A>G (p.Thr1646Ala)
|
|
|
|
NM_001110556.2(FLNA):c.4938T>C (p.Thr1646=)
|
|
|
|
NM_001110556.2(FLNA):c.4945+10C>T
|
rs2148109545
|
|
|
NM_001110556.2(FLNA):c.4945+9G>A
|
|
|
|
NM_001110556.2(FLNA):c.4945+9G>C
|
rs782665055
|
|
|
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg)
|
rs1569551874
|
|
|
NM_001110556.2(FLNA):c.495G>A (p.Lys165=)
|
|
|
|
NM_001110556.2(FLNA):c.4970-14C>T
|
|
|
|
NM_001110556.2(FLNA):c.4970-16C>T
|
|
|
|
NM_001110556.2(FLNA):c.4970-4C>T
|
rs2067652528
|
|
|
NM_001110556.2(FLNA):c.4970-9C>A
|
|
|
|
NM_001110556.2(FLNA):c.4986C>G (p.Pro1662=)
|
rs2148107593
|
|
|
NM_001110556.2(FLNA):c.49C>G (p.Pro17Ala)
|
|
|
|
NM_001110556.2(FLNA):c.49C>T (p.Pro17Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5010G>A (p.Thr1670=)
|
rs1449966344
|
|
|
NM_001110556.2(FLNA):c.5011G>A (p.Val1671Met)
|
|
|
|
NM_001110556.2(FLNA):c.5025C>T (p.Asp1675=)
|
rs1316728977
|
|
|
NM_001110556.2(FLNA):c.5034G>A (p.Ala1678=)
|
rs990704247
|
|
|
NM_001110556.2(FLNA):c.5054C>G (p.Thr1685Arg)
|
rs781783107
|
|
|
NM_001110556.2(FLNA):c.5070G>A (p.Thr1690=)
|
|
|
|
NM_001110556.2(FLNA):c.5073T>C (p.Pro1691=)
|
rs2148107520
|
|
|
NM_001110556.2(FLNA):c.5075_5092dup (p.Asp1692_Asp1697dup)
|
rs781960834
|
|
|
NM_001110556.2(FLNA):c.5084_5085del (p.Glu1695fs)
|
|
|
|
NM_001110556.2(FLNA):c.5088G>C (p.Val1696=)
|
|
|
|
NM_001110556.2(FLNA):c.5100G>A (p.Val1700=)
|
|
|
|
NM_001110556.2(FLNA):c.5104G>A (p.Glu1702Lys)
|
rs1468053311
|
|
|
NM_001110556.2(FLNA):c.510G>C (p.Gln170His)
|
|
|
|
NM_001110556.2(FLNA):c.5112_5114del (p.Glu1704del)
|
rs2148107489
|
|
|
NM_001110556.2(FLNA):c.5115C>T (p.Asp1705=)
|
rs1032244227
|
|
|
NM_001110556.2(FLNA):c.5125G>A (p.Asp1709Asn)
|
|
|
|
NM_001110556.2(FLNA):c.5125G>T (p.Asp1709Tyr)
|
rs782286237
|
|
|
NM_001110556.2(FLNA):c.5128A>G (p.Ile1710Val)
|
|
|
|
NM_001110556.2(FLNA):c.5131T>A (p.Phe1711Ile)
|
|
|
|
NM_001110556.2(FLNA):c.5134T>C (p.Tyr1712His)
|
rs782311904
|
|
|
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
|
rs1557176615
|
|
|
NM_001110556.2(FLNA):c.5150C>T (p.Pro1717Leu)
|
|
|
|
NM_001110556.2(FLNA):c.5157A>G (p.Lys1719=)
|
rs2148107420
|
|
|
NM_001110556.2(FLNA):c.5160C>G (p.Tyr1720Ter)
|
|
|
|
NM_001110556.2(FLNA):c.516C>T (p.Leu172=)
|
rs2148119398
|
|
|
NM_001110556.2(FLNA):c.5170G>A (p.Val1724Met)
|
|
|
|
NM_001110556.2(FLNA):c.5202C>T (p.Ser1734=)
|
|
|
|
NM_001110556.2(FLNA):c.5205C>T (p.Pro1735=)
|
|
|
|
NM_001110556.2(FLNA):c.5216C>T (p.Thr1739Met)
|
|
|
|
NM_001110556.2(FLNA):c.5217+13G>A
|
rs370737630
|
|
|
NM_001110556.2(FLNA):c.5217+13G>C
|
|
|
|
NM_001110556.2(FLNA):c.5217+13G>T
|
rs370737630
|
|
|
NM_001110556.2(FLNA):c.5217+14G>A
|
|
|
|
NM_001110556.2(FLNA):c.5217+18G>C
|
|
|
|
NM_001110556.2(FLNA):c.5217+18G>T
|
|
|
|
NM_001110556.2(FLNA):c.5217+18del
|
|
|
|
NM_001110556.2(FLNA):c.5217+9G>C
|
rs2148107318
|
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
|
NM_001110556.2(FLNA):c.5218-19T>C
|
|
|
|
NM_001110556.2(FLNA):c.5218-8C>T
|
|
|
|
NM_001110556.2(FLNA):c.5223G>C (p.Leu1741=)
|
rs2148107137
|
|
|
NM_001110556.2(FLNA):c.5239_5250del (p.Ser1747_Pro1750del)
|
rs1374504437
|
|
|
NM_001110556.2(FLNA):c.5241G>A (p.Ser1747=)
|
|
|
|
NM_001110556.2(FLNA):c.5241G>C (p.Ser1747=)
|
|
|
|
NM_001110556.2(FLNA):c.5242G>A (p.Val1748Met)
|
rs1020587429
|
|
|
NM_001110556.2(FLNA):c.5254C>T (p.Leu1752=)
|
|
|
|
NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln)
|
|
|
|
NM_001110556.2(FLNA):c.5258G>C (p.Arg1753Pro)
|
|
|
|
NM_001110556.2(FLNA):c.5261C>T (p.Ser1754Phe)
|
rs1557176515
|
|
|
NM_001110556.2(FLNA):c.5281T>A (p.Tyr1761Asn)
|
rs1293701269
|
|
|
NM_001110556.2(FLNA):c.5286C>T (p.Thr1762=)
|
rs111529108
|
|
|
NM_001110556.2(FLNA):c.5313+18A>G
|
|
|
|
NM_001110556.2(FLNA):c.5313+6dup
|
rs2067647775
|
|
|
NM_001110556.2(FLNA):c.5314-12T>A
|
rs2067647101
|
|
|
NM_001110556.2(FLNA):c.5314-17C>T
|
|
|
|
NM_001110556.2(FLNA):c.5314-19C>T
|
|
|
|
NM_001110556.2(FLNA):c.5314-20G>A
|
|
|
|
NM_001110556.2(FLNA):c.5314-3C>T
|
|
|
|
NM_001110556.2(FLNA):c.5333T>A (p.Val1778Glu)
|
rs2148106810
|
|
|
NM_001110556.2(FLNA):c.5349G>C (p.Leu1783=)
|
rs2148106785
|
|
|
NM_001110556.2(FLNA):c.5350G>C (p.Asp1784His)
|
|
|
|
NM_001110556.2(FLNA):c.5352T>C (p.Asp1784=)
|
|
|
|
NM_001110556.2(FLNA):c.5353G>A (p.Val1785Met)
|
rs2148106780
|
|
|
NM_001110556.2(FLNA):c.5355G>C (p.Val1785=)
|
rs2148106774
|
|
|
NM_001110556.2(FLNA):c.5360G>A (p.Ser1787Asn)
|
|
|
|
NM_001110556.2(FLNA):c.5360G>C (p.Ser1787Thr)
|
rs1557176461
|
|
|
NM_001110556.2(FLNA):c.5366G>A (p.Arg1789Lys)
|
|
|
|
NM_001110556.2(FLNA):c.5368C>G (p.Pro1790Ala)
|
|
|
|
NM_001110556.2(FLNA):c.537G>C (p.Lys179Asn)
|
rs1557179655
|
|
|
NM_001110556.2(FLNA):c.5382C>T (p.Val1794=)
|
|
|
|
NM_001110556.2(FLNA):c.5393_5395del (p.Thr1798del)
|
rs2148106743
|
|
|
NM_001110556.2(FLNA):c.5395A>G (p.Ile1799Val)
|
|
|
|
NM_001110556.2(FLNA):c.53G>A (p.Gly18Asp)
|
|
|
|
NM_001110556.2(FLNA):c.53GCG[4] (p.Gly20_Val21insGly)
|
|
|
|
NM_001110556.2(FLNA):c.5400G>T (p.Lys1800Asn)
|
rs2067646548
|
|
|
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=)
|
|
|
|
NM_001110556.2(FLNA):c.5416+12C>T
|
|
|
|
NM_001110556.2(FLNA):c.5416+13T>G
|
|
|
|
NM_001110556.2(FLNA):c.5416+20G>C
|
|
|
|
NM_001110556.2(FLNA):c.5416+4A>G
|
|
|
|
NM_001110556.2(FLNA):c.5416+5G>A
|
rs2067646346
|
|
|
NM_001110556.2(FLNA):c.5416+6T>G
|
rs2067646326
|
|
|
NM_001110556.2(FLNA):c.5416+7G>A
|
rs1262234762
|
|
|
NM_001110556.2(FLNA):c.5417-18A>C
|
|
|
|
NM_001110556.2(FLNA):c.5417-2A>G
|
|
|
|
NM_001110556.2(FLNA):c.5428A>G (p.Met1810Val)
|
rs2067645436
|
|
|
NM_001110556.2(FLNA):c.543G>C (p.Pro181=)
|
rs201486643
|
|
|
NM_001110556.2(FLNA):c.5450A>G (p.Gln1817Arg)
|
|
|
|
NM_001110556.2(FLNA):c.545A>G (p.Gln182Arg)
|
|
|
|
NM_001110556.2(FLNA):c.5468A>G (p.Asn1823Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn)
|
|
|
|
NM_001110556.2(FLNA):c.5477G>A (p.Gly1826Asp)
|
|
|
|
NM_001110556.2(FLNA):c.5485A>T (p.Thr1829Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5488G>A (p.Val1830Met)
|
|
|
|
NM_001110556.2(FLNA):c.5498C>T (p.Ala1833Val)
|
|
|
|
NM_001110556.2(FLNA):c.5506G>A (p.Glu1836Lys)
|
rs1557176399
|
|
|
NM_001110556.2(FLNA):c.5506G>C (p.Glu1836Gln)
|
rs1557176399
|
|
|
NM_001110556.2(FLNA):c.5510C>T (p.Ala1837Val)
|
rs2148106499
|
|
|
NM_001110556.2(FLNA):c.5517G>A (p.Leu1839=)
|
rs2148106492
|
|
|
NM_001110556.2(FLNA):c.5534_5554del (p.Arg1845_Ile1851del)
|
rs2148106442
|
|
|
NM_001110556.2(FLNA):c.5538T>C (p.Tyr1846=)
|
rs2148106458
|
|
|
NM_001110556.2(FLNA):c.5545A>G (p.Met1849Val)
|
rs2148106450
|
|
|
NM_001110556.2(FLNA):c.5547G>A (p.Met1849Ile)
|
|
|
|
NM_001110556.2(FLNA):c.5550C>G (p.His1850Gln)
|
|
|
|
NM_001110556.2(FLNA):c.5553C>T (p.Ile1851=)
|
rs1557176388
|
|
|
NM_001110556.2(FLNA):c.5557+6C>T
|
|
|
|
NM_001110556.2(FLNA):c.5558-10C>T
|
|
|
|
NM_001110556.2(FLNA):c.5558-12T>C
|
|
|
|
NM_001110556.2(FLNA):c.5558-17C>T
|
|
|
|
NM_001110556.2(FLNA):c.5558-20G>A
|
rs2148106327
|
|
|
NM_001110556.2(FLNA):c.5558-3C>T
|
|
|
|
NM_001110556.2(FLNA):c.5558-4T>C
|
|
|
|
NM_001110556.2(FLNA):c.5566T>G (p.Leu1856Val)
|
rs2148106298
|
|
|
NM_001110556.2(FLNA):c.558C>T (p.Thr186=)
|
|
|
|
NM_001110556.2(FLNA):c.5591A>C (p.Asn1864Thr)
|
rs782095418
|
|
|
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=)
|
rs782315233
|
|
|
NM_001110556.2(FLNA):c.5599C>T (p.His1867Tyr)
|
rs2067643018
|
|
|
NM_001110556.2(FLNA):c.5610C>T (p.Ala1870=)
|
rs782040591
|
|
|
NM_001110556.2(FLNA):c.5616G>T (p.Gly1872=)
|
|
|
|
NM_001110556.2(FLNA):c.5625C>G (p.Leu1875=)
|
|
|
|
NM_001110556.2(FLNA):c.5628C>T (p.Thr1876=)
|
|
|
|
NM_001110556.2(FLNA):c.5634A>G (p.Gly1878=)
|
|
|
|
NM_001110556.2(FLNA):c.5643C>T (p.Asn1881=)
|
|
|
|
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs)
|
rs1569551502
|
|
|
NM_001110556.2(FLNA):c.564C>T (p.Phe188=)
|
rs2148119369
|
|
|
NM_001110556.2(FLNA):c.5655C>T (p.Thr1885=)
|
|
|
|
NM_001110556.2(FLNA):c.5659A>G (p.Thr1887Ala)
|
rs886039107
|
|
|
NM_001110556.2(FLNA):c.5660C>A (p.Thr1887Asn)
|
|
|
|
NM_001110556.2(FLNA):c.5662G>A (p.Val1888Ile)
|
rs782669152
|
|
|
NM_001110556.2(FLNA):c.5686+1G>C
|
rs1557176315
|
|
|
NM_001110556.2(FLNA):c.5686+6C>T
|
rs2148106131
|
|
|
NM_001110556.2(FLNA):c.5687-15C>G
|
|
|
|
NM_001110556.2(FLNA):c.5687-19C>T
|
|
|
|
NM_001110556.2(FLNA):c.5687-6C>T
|
rs920380627
|
|
|
NM_001110556.2(FLNA):c.5688G>A (p.Gly1896=)
|
rs2148105928
|
|
|
NM_001110556.2(FLNA):c.5697T>G (p.Ser1899=)
|
|
|
|
NM_001110556.2(FLNA):c.5698C>G (p.Leu1900Val)
|
|
|
|
NM_001110556.2(FLNA):c.5701G>T (p.Ala1901Ser)
|
rs2067640521
|
|
|
NM_001110556.2(FLNA):c.5706T>C (p.Ile1902=)
|
|
|
|
NM_001110556.2(FLNA):c.5734T>G (p.Cys1912Gly)
|
|
|
|
NM_001110556.2(FLNA):c.5745C>G (p.Asn1915Lys)
|
|
|
|
NM_001110556.2(FLNA):c.5745C>T (p.Asn1915=)
|
|
|
|
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
|
rs1359141531
|
|
|
NM_001110556.2(FLNA):c.5765T>A (p.Val1922Glu)
|
|
|
|
NM_001110556.2(FLNA):c.5773C>T (p.Leu1925=)
|
|
|
|
NM_001110556.2(FLNA):c.5774T>G (p.Leu1925Arg)
|
rs2148105776
|
|
|
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
|
rs2148119354
|
|
|
NM_001110556.2(FLNA):c.5785C>T (p.Pro1929Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5810A>G (p.Lys1937Arg)
|
|
|
|
NM_001110556.2(FLNA):c.5815A>G (p.Asn1939Asp)
|
rs1603359508
|
|
|
NM_001110556.2(FLNA):c.5822A>G (p.Gln1941Arg)
|
|
|
|
NM_001110556.2(FLNA):c.582C>T (p.Ser194=)
|
|
|
|
NM_001110556.2(FLNA):c.5830C>T (p.Pro1944Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5849C>T (p.Ala1950Val)
|
|
|
|
NM_001110556.2(FLNA):c.5854G>A (p.Val1952Ile)
|
|
|
|
NM_001110556.2(FLNA):c.5860+11C>T
|
|
|
|
NM_001110556.2(FLNA):c.5860+17G>A
|
|
|
|
NM_001110556.2(FLNA):c.5860+3G>A
|
rs2067638896
|
|
|
NM_001110556.2(FLNA):c.5861-11G>C
|
rs782778881
|
|
|
NM_001110556.2(FLNA):c.5861-6C>T
|
|
|
|
NM_001110556.2(FLNA):c.5862T>G (p.Gly1954=)
|
rs2148105577
|
|
|
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)
|
rs137853317
|
|
|
NM_001110556.2(FLNA):c.5871C>T (p.Ser1957=)
|
|
|
|
NM_001110556.2(FLNA):c.5872A>C (p.Met1958Leu)
|
|
|
|
NM_001110556.2(FLNA):c.5873T>A (p.Met1958Lys)
|
|
|
|
NM_001110556.2(FLNA):c.5873T>C (p.Met1958Thr)
|
|
|
|
NM_001110556.2(FLNA):c.5873T>G (p.Met1958Arg)
|
rs587780336
|
|
|
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs)
|
rs1603359464
|
|
|
NM_001110556.2(FLNA):c.5883C>G (p.Ser1961=)
|
|
|
|
NM_001110556.2(FLNA):c.58G>A (p.Gly20Ser)
|
|
|
|
NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys)
|
|
|
|
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=)
|
rs375906241
|
|
|
NM_001110556.2(FLNA):c.5910C>T (p.Asp1970=)
|
|
|
|
NM_001110556.2(FLNA):c.5919C>T (p.Ile1973=)
|
|
|
|
NM_001110556.2(FLNA):c.5921A>G (p.Asn1974Ser)
|
rs2067637324
|
|
|
NM_001110556.2(FLNA):c.5929G>A (p.Glu1977Lys)
|
|
|
|
NM_001110556.2(FLNA):c.5933C>T (p.Thr1978Met)
|
rs1603359437
|
|
|
NM_001110556.2(FLNA):c.5937T>A (p.Asp1979Glu)
|
|
|
|
NM_001110556.2(FLNA):c.5940_5945dup (p.Ser1981_Leu1982dup)
|
rs2148105435
|
|
|
NM_001110556.2(FLNA):c.5968C>T (p.Pro1990Ser)
|
|
|
|
NM_001110556.2(FLNA):c.5971T>C (p.Ser1991Pro)
|
rs2148105391
|
|
|
NM_001110556.2(FLNA):c.5978G>C (p.Arg1993Pro)
|
rs782401919
|
|
|
NM_001110556.2(FLNA):c.597C>T (p.Gly199=)
|
|
|
|
NM_001110556.2(FLNA):c.5985G>A (p.Glu1995=)
|
|
|
|
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)
|
rs1060500718
|
|
|
NM_001110556.2(FLNA):c.5993T>C (p.Leu1998Ser)
|
|
|
|
NM_001110556.2(FLNA):c.6002G>T (p.Arg2001Leu)
|
|
|
|
NM_001110556.2(FLNA):c.6004C>A (p.Leu2002Met)
|
|
|
|
NM_001110556.2(FLNA):c.600C>T (p.Ala200=)
|
|
|
|
NM_001110556.2(FLNA):c.601C>T (p.Leu201=)
|
rs2148119332
|
|
|
NM_001110556.2(FLNA):c.6022+6C>T
|
|
|
|
NM_001110556.2(FLNA):c.6022+9C>T
|
|
|
|
NM_001110556.2(FLNA):c.6022G>C (p.Gly2008Arg)
|
rs2148105300
|
|
|
NM_001110556.2(FLNA):c.6023-11C>T
|
|
|
|
NM_001110556.2(FLNA):c.6023-30_6023-9dup
|
|
|
|
NM_001110556.2(FLNA):c.6023G>A (p.Gly2008Glu)
|
|
|
|
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)
|
|
|
|
NM_001110556.2(FLNA):c.6036G>A (p.Val2012=)
|
|
|
|
NM_001110556.2(FLNA):c.6057C>T (p.His2019=)
|
|
|
|
NM_001110556.2(FLNA):c.6066T>C (p.His2022=)
|
|
|
|
NM_001110556.2(FLNA):c.6081C>G (p.Gly2027=)
|
rs1557176147
|
|
|
NM_001110556.2(FLNA):c.6090G>A (p.Val2030=)
|
rs2148105105
|
|
|
NM_001110556.2(FLNA):c.6093C>T (p.Ala2031=)
|
rs2148105089
|
|
|
NM_001110556.2(FLNA):c.6094A>G (p.Ser2032Gly)
|
|
|
|
NM_001110556.2(FLNA):c.6096C>T (p.Ser2032=)
|
rs1557176137
|
|
|
NM_001110556.2(FLNA):c.6101C>A (p.Pro2034His)
|
|
|
|
NM_001110556.2(FLNA):c.6106C>A (p.Pro2036Thr)
|
|
|
|
NM_001110556.2(FLNA):c.6107C>T (p.Pro2036Leu)
|
rs1557176131
|
|
|
NM_001110556.2(FLNA):c.6126G>A (p.Ser2042=)
|
|
|
|
NM_001110556.2(FLNA):c.6138T>C (p.Asp2046=)
|
|
|
|
NM_001110556.2(FLNA):c.6142A>C (p.Ser2048Arg)
|
rs2067634018
|
|
|
NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)
|
rs1557176118
|
|
|
NM_001110556.2(FLNA):c.6149T>C (p.Val2050Ala)
|
rs2148104996
|
|
|
NM_001110556.2(FLNA):c.6151C>T (p.Arg2051Trp)
|
|
|
|
NM_001110556.2(FLNA):c.6152G>C (p.Arg2051Pro)
|
|
|
|
NM_001110556.2(FLNA):c.6152G>T (p.Arg2051Leu)
|
|
|
|
NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=)
|
|
|
|
NM_001110556.2(FLNA):c.6174C>G (p.His2058Gln)
|
|
|
|
NM_001110556.2(FLNA):c.6174C>T (p.His2058=)
|
|
|
|
NM_001110556.2(FLNA):c.6177A>G (p.Glu2059=)
|
rs1557176106
|
|
|
NM_001110556.2(FLNA):c.6178G>T (p.Gly2060Cys)
|
rs2067633506
|
|
|
NM_001110556.2(FLNA):c.6185C>T (p.Thr2062Ile)
|
|
|
|
NM_001110556.2(FLNA):c.6193C>T (p.Pro2065Ser)
|
rs1603359334
|
|
|
NM_001110556.2(FLNA):c.6196G>A (p.Ala2066Thr)
|
rs2067633311
|
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
|
NM_001110556.2(FLNA):c.619C>T (p.Pro207Ser)
|
rs1603363256
|
|
|
NM_001110556.2(FLNA):c.6205A>T (p.Ile2069Phe)
|
|
|
|
NM_001110556.2(FLNA):c.6208A>G (p.Ile2070Val)
|
|
|
|
NM_001110556.2(FLNA):c.620C>A (p.Pro207Gln)
|
rs28935469
|
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
|
NM_001110556.2(FLNA):c.6215C>G (p.Thr2072Ser)
|
rs2067633067
|
|
|
NM_001110556.2(FLNA):c.6215C>T (p.Thr2072Ile)
|
|
|
|
NM_001110556.2(FLNA):c.621G>C (p.Pro207=)
|
|
|
|
NM_001110556.2(FLNA):c.622+12C>T
|
|
|
|
NM_001110556.2(FLNA):c.622+18C>A
|
|
|
|
NM_001110556.2(FLNA):c.622+1G>A
|
rs2148119316
|
|
|
NM_001110556.2(FLNA):c.622+3G>A
|
rs2148119314
|
|
|
NM_001110556.2(FLNA):c.622+6G>A
|
rs2067774543
|
|
|
NM_001110556.2(FLNA):c.622+6G>C
|
|
|
|
NM_001110556.2(FLNA):c.622+9G>C
|
rs782536456
|
|
|
NM_001110556.2(FLNA):c.6222T>C (p.Asp2074=)
|
|
|
|
NM_001110556.2(FLNA):c.6227-18_6227-17insCCTGTCCTAGGTGCTAGGACCTA
|
|
|
|
NM_001110556.2(FLNA):c.6227-9A>T
|
|
|
|
NM_001110556.2(FLNA):c.623-10T>A
|
rs2067773575
|
|
|
NM_001110556.2(FLNA):c.623-12C>T
|
rs2148119225
|
|
|
NM_001110556.2(FLNA):c.623-5C>T
|
|
|
|
NM_001110556.2(FLNA):c.623-7G>C
|
rs782670288
|
|
|
NM_001110556.2(FLNA):c.623-8C>T
|
|
|
|
NM_001110556.2(FLNA):c.6234T>C (p.Gly2078=)
|
|
|
|
NM_001110556.2(FLNA):c.6252T>C (p.Ile2084=)
|
|
|
|
NM_001110556.2(FLNA):c.6269T>C (p.Val2090Ala)
|
rs1569551477
|
|
|
NM_001110556.2(FLNA):c.6276C>T (p.Ile2092=)
|
|
|
|
NM_001110556.2(FLNA):c.6285G>A (p.Glu2095=)
|
|
|
|
NM_001110556.2(FLNA):c.6289C>A (p.Leu2097Met)
|
rs782255283
|
|
|
NM_001110556.2(FLNA):c.6289C>T (p.Leu2097=)
|
rs782255283
|
|
|
NM_001110556.2(FLNA):c.6291G>A (p.Leu2097=)
|
rs782667495
|
|
|
NM_001110556.2(FLNA):c.6291G>C (p.Leu2097=)
|
rs782667495
|
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
|
NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6302C>T (p.Thr2101Met)
|
|
|
|
NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=)
|
|
|
|
NM_001110556.2(FLNA):c.6310G>A (p.Val2104Ile)
|
rs782722036
|
|
|
NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)
|
rs2148104651
|
|
|
NM_001110556.2(FLNA):c.6319T>G (p.Cys2107Gly)
|
rs1557176055
|
|
|
NM_001110556.2(FLNA):c.6320G>C (p.Cys2107Ser)
|
rs1557176052
|
|
|
NM_001110556.2(FLNA):c.6321C>T (p.Cys2107=)
|
rs1060504017
|
|
|
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
|
rs2148104615
|
|
|
NM_001110556.2(FLNA):c.6345C>T (p.Ile2115=)
|
rs2067630406
|
|
|
NM_001110556.2(FLNA):c.6348C>T (p.Ile2116=)
|
|
|
|
NM_001110556.2(FLNA):c.6362C>A (p.Ala2121Asp)
|
rs868993210
|
|
|
NM_001110556.2(FLNA):c.6364G>C (p.Asp2122His)
|
|
|
|
NM_001110556.2(FLNA):c.6366C>T (p.Asp2122=)
|
rs2148104563
|
|
|
NM_001110556.2(FLNA):c.6368A>G (p.Gln2123Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6372C>A (p.His2124Gln)
|
|
|
|
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln)
|
rs781999359
|
|
|
NM_001110556.2(FLNA):c.6372C>T (p.His2124=)
|
|
|
|
NM_001110556.2(FLNA):c.6375G>C (p.Val2125=)
|
|
|
|
NM_001110556.2(FLNA):c.6379+10G>T
|
rs2148104519
|
|
|
NM_001110556.2(FLNA):c.6379G>T (p.Gly2127Cys)
|
|
|
|
NM_001110556.2(FLNA):c.6380-17G>C
|
rs200764111
|
|
|
NM_001110556.2(FLNA):c.6380-18C>T
|
|
|
|
NM_001110556.2(FLNA):c.6395_6396del (p.Val2132fs)
|
|
|
|
NM_001110556.2(FLNA):c.6404C>T (p.Thr2135Ile)
|
|
|
|
NM_001110556.2(FLNA):c.6408C>A (p.Gly2136=)
|
rs1004981975
|
|
|
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys)
|
rs782142395
|
|
|
NM_001110556.2(FLNA):c.6422A>G (p.Lys2141Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs)
|
rs2148104376
|
|
|
NM_001110556.2(FLNA):c.6426G>C (p.Glu2142Asp)
|
rs2067628711
|
|
|
NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys)
|
|
|
|
NM_001110556.2(FLNA):c.6443G>A (p.Arg2148His)
|
|
|
|
NM_001110556.2(FLNA):c.6462C>T (p.Ala2154=)
|
|
|
|
NM_001110556.2(FLNA):c.6493A>C (p.Lys2165Gln)
|
|
|
|
NM_001110556.2(FLNA):c.6496del (p.Ile2166fs)
|
|
|
|
NM_001110556.2(FLNA):c.6498C>A (p.Ile2166=)
|
|
|
|
NM_001110556.2(FLNA):c.6502+19C>T
|
|
|
|
NM_001110556.2(FLNA):c.6502+7G>A
|
rs782202978
|
|
|
NM_001110556.2(FLNA):c.6502+8C>G
|
rs1603359201
|
|
|
NM_001110556.2(FLNA):c.6503-2A>C
|
rs112363874
|
|
|
NM_001110556.2(FLNA):c.6503-3C>T
|
|
|
|
NM_001110556.2(FLNA):c.6511A>G (p.Ile2171Val)
|
|
|
|
NM_001110556.2(FLNA):c.6539G>A (p.Ser2180Asn)
|
|
|
|
NM_001110556.2(FLNA):c.6540C>A (p.Ser2180Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6540C>T (p.Ser2180=)
|
rs781992483
|
|
|
NM_001110556.2(FLNA):c.6545C>T (p.Ser2182Leu)
|
|
|
|
NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=)
|
|
|
|
NM_001110556.2(FLNA):c.6564C>G (p.Ala2188=)
|
rs782053327
|
|
|
NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=)
|
|
|
|
NM_001110556.2(FLNA):c.6568A>C (p.Ile2190Leu)
|
rs1603359155
|
|
|
NM_001110556.2(FLNA):c.656del (p.Ser219fs)
|
rs2148119182
|
|
|
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
|
|
|
|
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
|
rs2067626336
|
|
|
NM_001110556.2(FLNA):c.6588C>G (p.His2196Gln)
|
rs2148104059
|
|
|
NM_001110556.2(FLNA):c.6590C>T (p.Thr2197Ile)
|
rs2148104056
|
|
|
NM_001110556.2(FLNA):c.6591C>T (p.Thr2197=)
|
|
|
|
NM_001110556.2(FLNA):c.6595T>C (p.Cys2199Arg)
|
rs2148104046
|
|
|
NM_001110556.2(FLNA):c.6596G>C (p.Cys2199Ser)
|
|
|
|
NM_001110556.2(FLNA):c.659A>G (p.Lys220Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6603C>G (p.Arg2201=)
|
|
|
|
NM_001110556.2(FLNA):c.6606T>C (p.Phe2202=)
|
|
|
|
NM_001110556.2(FLNA):c.6613G>A (p.Ala2205Thr)
|
|
|
|
NM_001110556.2(FLNA):c.6630C>T (p.His2210=)
|
rs2148103981
|
|
|
NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs)
|
rs786205178
|
|
|
NM_001110556.2(FLNA):c.6636C>T (p.Val2212=)
|
rs2148103971
|
|
|
NM_001110556.2(FLNA):c.663C>A (p.Pro221=)
|
|
|
|
NM_001110556.2(FLNA):c.6644A>G (p.Lys2215Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6660C>T (p.His2220=)
|
rs2148103943
|
|
|
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
|
rs2148103917
|
|
|
NM_001110556.2(FLNA):c.6685A>T (p.Thr2229Ser)
|
|
|
|
NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=)
|
|
|
|
NM_001110556.2(FLNA):c.6688G>A (p.Val2230Met)
|
rs2148103899
|
|
|
NM_001110556.2(FLNA):c.6705A>C (p.Glu2235Asp)
|
rs1057520156
|
|
|
NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=)
|
|
|
|
NM_001110556.2(FLNA):c.671A>G (p.Asn224Ser)
|
|
|
|
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)
|
rs1060500717
|
|
|
NM_001110556.2(FLNA):c.6733G>A (p.Gly2245Ser)
|
rs2148103841
|
|
|
NM_001110556.2(FLNA):c.6735C>T (p.Gly2245=)
|
|
|
|
NM_001110556.2(FLNA):c.6744G>A (p.Leu2248=)
|
rs2148103828
|
|
|
NM_001110556.2(FLNA):c.6747G>A (p.Glu2249=)
|
rs2148103820
|
|
|
NM_001110556.2(FLNA):c.6754G>A (p.Glu2252Lys)
|
|
|
|
NM_001110556.2(FLNA):c.6766C>T (p.Pro2256Ser)
|
rs1603359077
|
|
|
NM_001110556.2(FLNA):c.6769+12C>T
|
|
|
|
NM_001110556.2(FLNA):c.6769+14C>T
|
|
|
|
NM_001110556.2(FLNA):c.6769+16C>T
|
|
|
|
NM_001110556.2(FLNA):c.6769+4G>A
|
rs2148103785
|
|
|
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter)
|
rs1569551861
|
|
|
NM_001110556.2(FLNA):c.6770-12_6770-11del
|
|
|
|
NM_001110556.2(FLNA):c.6770-15A>T
|
|
|
|
NM_001110556.2(FLNA):c.6770_6774del (p.Ala2257fs)
|
|
|
|
NM_001110556.2(FLNA):c.6773A>G (p.Glu2258Gly)
|
rs2148103588
|
|
|
NM_001110556.2(FLNA):c.6779G>A (p.Ser2260Asn)
|
|
|
|
NM_001110556.2(FLNA):c.677G>A (p.Arg226Gln)
|
rs2067772868
|
|
|
NM_001110556.2(FLNA):c.6789C>A (p.Thr2263=)
|
|
|
|
NM_001110556.2(FLNA):c.6789C>T (p.Thr2263=)
|
|
|
|
NM_001110556.2(FLNA):c.6809G>A (p.Gly2270Asp)
|
|
|
|
NM_001110556.2(FLNA):c.6810C>A (p.Gly2270=)
|
|
|
|
NM_001110556.2(FLNA):c.6815C>T (p.Ala2272Val)
|
|
|
|
NM_001110556.2(FLNA):c.6828G>A (p.Glu2276=)
|
|
|
|
NM_001110556.2(FLNA):c.6848T>G (p.Ile2283Ser)
|
|
|
|
NM_001110556.2(FLNA):c.6870C>A (p.Asp2290Glu)
|
rs782651736
|
|
|
NM_001110556.2(FLNA):c.6872G>A (p.Gly2291Asp)
|
|
|
|
NM_001110556.2(FLNA):c.6875C>T (p.Ser2292Phe)
|
rs1557175878
|
|
|
NM_001110556.2(FLNA):c.687G>A (p.Met229Ile)
|
rs886044820
|
|
|
NM_001110556.2(FLNA):c.6891T>C (p.Tyr2297=)
|
rs1557175875
|
|
|
NM_001110556.2(FLNA):c.6894G>C (p.Val2298=)
|
rs878854462
|
|
|
NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)
|
rs2148103458
|
|
|
NM_001110556.2(FLNA):c.68C>A (p.Thr23Lys)
|
|
|
|
NM_001110556.2(FLNA):c.6901G>A (p.Glu2301Lys)
|
rs2148103452
|
|
|
NM_001110556.2(FLNA):c.6907+13C>G
|
|
|
|
NM_001110556.2(FLNA):c.6907+14G>A
|
rs199934017
|
|
|
NM_001110556.2(FLNA):c.6907+14G>C
|
rs199934017
|
|
|
NM_001110556.2(FLNA):c.6907+16C>T
|
|
|
|
NM_001110556.2(FLNA):c.6908-10C>A
|
|
|
|
NM_001110556.2(FLNA):c.6908-18del
|
|
|
|
NM_001110556.2(FLNA):c.690G>A (p.Gln230=)
|
rs1557179590
|
|
|
NM_001110556.2(FLNA):c.6916G>A (p.Glu2306Lys)
|
rs1603358960
|
|
|
NM_001110556.2(FLNA):c.6928A>C (p.Lys2310Gln)
|
|
|
|
NM_001110556.2(FLNA):c.692A>G (p.Gln231Arg)
|
|
|
|
NM_001110556.2(FLNA):c.6933C>A (p.Phe2311Leu)
|
rs2148103163
|
|
|
NM_001110556.2(FLNA):c.6935A>G (p.Asn2312Ser)
|
rs2148103157
|
|
|
NM_001110556.2(FLNA):c.693G>A (p.Gln231=)
|
rs2148119150
|
|
|
NM_001110556.2(FLNA):c.6952G>A (p.Asp2318Asn)
|
rs1557175822
|
|
|
NM_001110556.2(FLNA):c.695C>G (p.Ala232Gly)
|
|
|
|
NM_001110556.2(FLNA):c.6969G>A (p.Val2323=)
|
rs2067620343
|
|
|
NM_001110556.2(FLNA):c.6971C>T (p.Pro2324Leu)
|
|
|
|
NM_001110556.2(FLNA):c.6984G>C (p.Pro2328=)
|
rs374786760
|
|
|
NM_001110556.2(FLNA):c.6994G>A (p.Ala2332Thr)
|
rs2148103050
|
|
|
NM_001110556.2(FLNA):c.6996C>T (p.Ala2332=)
|
rs2148103045
|
|
|
NM_001110556.2(FLNA):c.69G>T (p.Thr23=)
|
rs1406591945
|
|
|
NM_001110556.2(FLNA):c.7001G>T (p.Arg2334Leu)
|
rs782770155
|
|
|
NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)
|
rs2148103004
|
|
|
NM_001110556.2(FLNA):c.7009G>C (p.Val2337Leu)
|
|
|
|
NM_001110556.2(FLNA):c.7013C>T (p.Ser2338Phe)
|
rs781878646
|
|
|
NM_001110556.2(FLNA):c.7014T>C (p.Ser2338=)
|
|
|
|
NM_001110556.2(FLNA):c.7017C>A (p.Ser2339Arg)
|
|
|
|
NM_001110556.2(FLNA):c.7023+10C>G
|
|
|
|
NM_001110556.2(FLNA):c.7023+11G>A
|
|
|
|
NM_001110556.2(FLNA):c.7023+1G>T
|
rs2148102980
|
|
|
NM_001110556.2(FLNA):c.7023+20C>T
|
|
|
|
NM_001110556.2(FLNA):c.7023+7C>T
|
rs2067619518
|
|
|
NM_001110556.2(FLNA):c.7024-16T>C
|
rs2148102289
|
|
|
NM_001110556.2(FLNA):c.7024-18del
|
rs2148102297
|
|
|
NM_001110556.2(FLNA):c.7024-3C>T
|
|
|
|
NM_001110556.2(FLNA):c.7024G>A (p.Glu2342Lys)
|
rs2067614826
|
|
|
NM_001110556.2(FLNA):c.7041C>G (p.Val2347=)
|
rs782166267
|
|
|
NM_001110556.2(FLNA):c.7043A>G (p.Asn2348Ser)
|
rs1557175657
|
|
|
NM_001110556.2(FLNA):c.7051G>C (p.Ala2351Pro)
|
rs1557175653
|
|
|
NM_001110556.2(FLNA):c.7053C>T (p.Ala2351=)
|
|
|
|
NM_001110556.2(FLNA):c.7056T>C (p.Ser2352=)
|
rs2148102212
|
|
|
NM_001110556.2(FLNA):c.7068C>T (p.Ser2356=)
|
rs1557175633
|
|
|
NM_001110556.2(FLNA):c.7080C>T (p.Ala2360=)
|
|
|
|
NM_001110556.2(FLNA):c.7088C>A (p.Ala2363Glu)
|
|
|
|
NM_001110556.2(FLNA):c.7088C>T (p.Ala2363Val)
|
|
|
|
NM_001110556.2(FLNA):c.708G>A (p.Leu236=)
|
rs2148119132
|
|
|
NM_001110556.2(FLNA):c.708G>C (p.Leu236=)
|
|
|
|
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=)
|
rs782591917
|
|
|
NM_001110556.2(FLNA):c.7092C>T (p.Ile2364=)
|
rs782591917
|
|
|
NM_001110556.2(FLNA):c.7093G>A (p.Asp2365Asn)
|
rs2148102159
|
|
|
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly)
|
rs1164930154
|
|
|
NM_001110556.2(FLNA):c.70C>T (p.Arg24Trp)
|
rs1164930154
|
|
|
NM_001110556.2(FLNA):c.7125G>C (p.Leu2375=)
|
|
|
|
NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=)
|
|
|
|
NM_001110556.2(FLNA):c.7136A>G (p.Tyr2379Cys)
|
|
|
|
NM_001110556.2(FLNA):c.714C>G (p.Ile238Met)
|
rs1557179587
|
|
|
NM_001110556.2(FLNA):c.7152C>T (p.Asp2384=)
|
rs1603358785
|
|
|
NM_001110556.2(FLNA):c.7156+18C>G
|
|
|
|
NM_001110556.2(FLNA):c.7156+3G>C
|
|
|
|
NM_001110556.2(FLNA):c.7157-11C>T
|
|
|
|
NM_001110556.2(FLNA):c.7157-17G>C
|
|
|
|
NM_001110556.2(FLNA):c.7165G>A (p.Ala2389Thr)
|
rs2067608494
|
|
|
NM_001110556.2(FLNA):c.7170G>A (p.Val2390=)
|
rs1557175468
|
|
|
NM_001110556.2(FLNA):c.7174T>A (p.Phe2392Ile)
|
|
|
|
NM_001110556.2(FLNA):c.7178T>A (p.Ile2393Asn)
|
|
|
|
NM_001110556.2(FLNA):c.7179C>T (p.Ile2393=)
|
|
|
|
NM_001110556.2(FLNA):c.717C>T (p.Pro239=)
|
rs920444710
|
|
|
NM_001110556.2(FLNA):c.7180C>T (p.Pro2394Ser)
|
rs2148101380
|
|
|
NM_001110556.2(FLNA):c.7184G>A (p.Arg2395Gln)
|
|
|
|
NM_001110556.2(FLNA):c.7188G>C (p.Glu2396Asp)
|
rs1557175461
|
|
|
NM_001110556.2(FLNA):c.7189A>G (p.Asn2397Asp)
|
|
|
|
NM_001110556.2(FLNA):c.7195G>A (p.Val2399Ile)
|
rs878854463
|
|
|
NM_001110556.2(FLNA):c.720+15C>A
|
|
|
|
NM_001110556.2(FLNA):c.720+9G>T
|
|
|
|
NM_001110556.2(FLNA):c.7202T>C (p.Leu2401Pro)
|
rs1603358629
|
|
|
NM_001110556.2(FLNA):c.7202del (p.Leu2401fs)
|
|
|
|
NM_001110556.2(FLNA):c.721-11G>A
|
|
|
|
NM_001110556.2(FLNA):c.721-15T>C
|
|
|
|
NM_001110556.2(FLNA):c.721-18G>A
|
|
|
|
NM_001110556.2(FLNA):c.7221C>G (p.Asn2407Lys)
|
rs782129907
|
|
|
NM_001110556.2(FLNA):c.7223_7224delinsTT (p.Gly2408Val)
|
|
|
|
NM_001110556.2(FLNA):c.7227C>T (p.Thr2409=)
|
|
|
|
NM_001110556.2(FLNA):c.7236T>C (p.Pro2412=)
|
|
|
|
NM_001110556.2(FLNA):c.7244C>T (p.Pro2415Leu)
|
|
|
|
NM_001110556.2(FLNA):c.7255C>G (p.Arg2419Gly)
|
rs782308324
|
|
|
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)
|
rs782308324
|
|
|
NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln)
|
|
|
|
NM_001110556.2(FLNA):c.7272G>A (p.Gly2424=)
|
rs2148101247
|
|
|
NM_001110556.2(FLNA):c.7276G>A (p.Gly2426Arg)
|
|
|
|
NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)
|
rs2148101228
|
|
|
NM_001110556.2(FLNA):c.7290C>T (p.Gly2430=)
|
|
|
|
NM_001110556.2(FLNA):c.7295T>G (p.Val2432Gly)
|
|
|
|
NM_001110556.2(FLNA):c.729C>T (p.Thr243=)
|
|
|
|
NM_001110556.2(FLNA):c.72G>A (p.Arg24=)
|
rs1603363947
|
|
|
NM_001110556.2(FLNA):c.7301C>T (p.Ala2434Val)
|
|
|
|
NM_001110556.2(FLNA):c.7318G>A (p.Glu2440Lys)
|
|
|
|
NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=)
|
|
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
|
NM_001110556.2(FLNA):c.732C>G (p.Pro244=)
|
rs371092631
|
|
|
NM_001110556.2(FLNA):c.7332A>G (p.Thr2444=)
|
|
|
|
NM_001110556.2(FLNA):c.7333+11C>G
|
|
|
|
NM_001110556.2(FLNA):c.7333+13G>A
|
|
|
|
NM_001110556.2(FLNA):c.7333+17G>A
|
rs781940800
|
|
|
NM_001110556.2(FLNA):c.7333+18G>A
|
|
|
|
NM_001110556.2(FLNA):c.7333+1G>C
|
rs1557175424
|
|
|
NM_001110556.2(FLNA):c.7334-12C>T
|
rs2148101053
|
|
|
NM_001110556.2(FLNA):c.7334-13_7334-11del
|
|
|
|
NM_001110556.2(FLNA):c.7334-20C>T
|
rs2148101063
|
|
|
NM_001110556.2(FLNA):c.7334-4C>A
|
rs782380384
|
|
|
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)
|
rs797044753
|
|
|
NM_001110556.2(FLNA):c.7344T>A (p.Ala2448=)
|
|
|
|
NM_001110556.2(FLNA):c.7351G>A (p.Val2451Ile)
|
rs782613404
|
|
|
NM_001110556.2(FLNA):c.7363A>G (p.Ser2455Gly)
|
|
|
|
NM_001110556.2(FLNA):c.7363_7364insCGTGAACACCA (p.Ser2455delinsThrTer)
|
|
|
|
NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=)
|
|
|
|
NM_001110556.2(FLNA):c.7369G>A (p.Ala2457Thr)
|
|
|
|
NM_001110556.2(FLNA):c.7371G>A (p.Ala2457=)
|
|
|
|
NM_001110556.2(FLNA):c.7372G>A (p.Gly2458Arg)
|
rs2148100988
|
|
|
NM_001110556.2(FLNA):c.7375G>A (p.Ala2459Thr)
|
rs1420001297
|
|
|
NM_001110556.2(FLNA):c.7381G>A (p.Ala2461Thr)
|
|
|
|
NM_001110556.2(FLNA):c.7392G>C (p.Val2464=)
|
|
|
|
NM_001110556.2(FLNA):c.7394C>T (p.Thr2465Ile)
|
rs878854464
|
|
|
NM_001110556.2(FLNA):c.7405C>T (p.Pro2469Ser)
|
|
|
|
NM_001110556.2(FLNA):c.7409C>T (p.Ser2470Phe)
|
|
|
|
NM_001110556.2(FLNA):c.7410C>T (p.Ser2470=)
|
|
|
|
NM_001110556.2(FLNA):c.7423G>A (p.Asp2475Asn)
|
rs2148100917
|
|
|
NM_001110556.2(FLNA):c.7432G>A (p.Glu2478Lys)
|
|
|
|
NM_001110556.2(FLNA):c.7436G>T (p.Cys2479Phe)
|
rs2067604638
|
|
|
NM_001110556.2(FLNA):c.7439_7440inv (p.Pro2480Gln)
|
|
|
|
NM_001110556.2(FLNA):c.7443G>A (p.Glu2481=)
|
|
|
|
NM_001110556.2(FLNA):c.7448A>G (p.Tyr2483Cys)
|
rs2067604522
|
|
|
NM_001110556.2(FLNA):c.7450C>A (p.Arg2484Ser)
|
rs782557713
|
|
|
NM_001110556.2(FLNA):c.7458C>T (p.Thr2486=)
|
|
|
|
NM_001110556.2(FLNA):c.7485C>T (p.Tyr2495=)
|
rs2148100828
|
|
|
NM_001110556.2(FLNA):c.7488C>G (p.Leu2496=)
|
rs985402675
|
|
|
NM_001110556.2(FLNA):c.7491C>T (p.Ile2497=)
|
|
|
|
NM_001110556.2(FLNA):c.7503C>T (p.Tyr2501=)
|
|
|
|
NM_001110556.2(FLNA):c.7507G>A (p.Gly2503Ser)
|
|
|
|
NM_001110556.2(FLNA):c.750C>A (p.Pro250=)
|
rs2148119015
|
|
|
NM_001110556.2(FLNA):c.7511C>T (p.Pro2504Leu)
|
|
|
|
NM_001110556.2(FLNA):c.7524G>A (p.Gly2508=)
|
|
|
|
NM_001110556.2(FLNA):c.7527C>T (p.Gly2509=)
|
rs2148100744
|
|
|
NM_001110556.2(FLNA):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_001110556.2(FLNA):c.7542C>T (p.Ala2514=)
|
|
|
|
NM_001110556.2(FLNA):c.7553-20C>T
|
|
|
|
NM_001110556.2(FLNA):c.7553-7C>T
|
|
|
|
NM_001110556.2(FLNA):c.7554C>G (p.Gly2518=)
|
|
|
|
NM_001110556.2(FLNA):c.7554C>T (p.Gly2518=)
|
|
|
|
NM_001110556.2(FLNA):c.7556C>G (p.Pro2519Arg)
|
rs2067602794
|
|
|
NM_001110556.2(FLNA):c.7564_7566del (p.Val2522del)
|
|
|
|
NM_001110556.2(FLNA):c.7579C>A (p.Leu2527Ile)
|
|
|
|
NM_001110556.2(FLNA):c.7584C>T (p.His2528=)
|
rs201883808
|
|
|
NM_001110556.2(FLNA):c.7599G>A (p.Val2533=)
|
|
|
|
NM_001110556.2(FLNA):c.75C>A (p.Asp25Glu)
|
|
|
|
NM_001110556.2(FLNA):c.7605A>G (p.Val2535=)
|
|
|
|
NM_001110556.2(FLNA):c.7607A>T (p.Asp2536Val)
|
|
|
|
NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)
|
rs28935470
|
|
|
NM_001110556.2(FLNA):c.7612C>G (p.Leu2538Val)
|
|
|
|
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
|
rs2067602034
|
|
|
NM_001110556.2(FLNA):c.7616C>T (p.Thr2539Ile)
|
|
|
|
NM_001110556.2(FLNA):c.7622C>T (p.Ala2541Val)
|
|
|
|
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.7628G>T (p.Cys2543Phe)
|
|
|
|
NM_001110556.2(FLNA):c.762G>A (p.Glu254=)
|
rs2148119000
|
|
|
NM_001110556.2(FLNA):c.7630G>T (p.Ala2544Ser)
|
rs782714612
|
|
|
NM_001110556.2(FLNA):c.7631C>A (p.Ala2544Asp)
|
|
|
|
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
|
|
|
|
NM_001110556.2(FLNA):c.7636C>G (p.Gln2546Glu)
|
|
|
|
NM_001110556.2(FLNA):c.7636C>T (p.Gln2546Ter)
|
|
|
|
NM_001110556.2(FLNA):c.7644G>A (p.Gly2548=)
|
rs2067601627
|
|
|
NM_001110556.2(FLNA):c.7645G>T (p.Ala2549Ser)
|
rs1557175287
|
|
|
NM_001110556.2(FLNA):c.7653T>G (p.Gly2551=)
|
|
|
|
NM_001110556.2(FLNA):c.7660C>A (p.Pro2554Thr)
|
rs1060500720
|
|
|
NM_001110556.2(FLNA):c.7664C>T (p.Ala2555Val)
|
|
|
|
NM_001110556.2(FLNA):c.7665T>C (p.Ala2555=)
|
rs2148100398
|
|
|
NM_001110556.2(FLNA):c.7671C>T (p.Ala2557=)
|
rs398123624
|
|
|
NM_001110556.2(FLNA):c.7673_7674delinsAG (p.Ser2558Lys)
|
|
|
|
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala)
|
|
|
|
NM_001110556.2(FLNA):c.76G>A (p.Ala26Thr)
|
rs886038966
|
|
|
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=)
|
rs782308141
|
|
|
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
|
|
|
|
NM_001110556.2(FLNA):c.7739T>C (p.Val2580Ala)
|
|
|
|
NM_001110556.2(FLNA):c.7756+11=
|
rs7063300
|
|
|
NM_001110556.2(FLNA):c.7756+20G>T
|
rs782395246
|
|
|
NM_001110556.2(FLNA):c.7756+2T>A
|
|
|
|
NM_001110556.2(FLNA):c.7756+6C>A
|
|
|
|
NM_001110556.2(FLNA):c.7757-15C>T
|
|
|
|
NM_001110556.2(FLNA):c.7757-16A>T
|
rs1057522350
|
|
|
NM_001110556.2(FLNA):c.7757-20G>C
|
|
|
|
NM_001110556.2(FLNA):c.7757-5C>G
|
|
|
|
NM_001110556.2(FLNA):c.7757-5del
|
rs2148099864
|
|
|
NM_001110556.2(FLNA):c.7761C>T (p.Asn2587=)
|
|
|
|
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del)
|
rs2067597172
|
|
|
NM_001110556.2(FLNA):c.7779G>T (p.Gly2593=)
|
|
|
|
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)
|
rs1557175195
|
|
|
NM_001110556.2(FLNA):c.777C>T (p.Thr259=)
|
|
|
|
NM_001110556.2(FLNA):c.7784A>C (p.His2595Pro)
|
rs1603358284
|
|
|
NM_001110556.2(FLNA):c.7789C>T (p.Pro2597Ser)
|
|
|
|
NM_001110556.2(FLNA):c.7793G>A (p.Arg2598Lys)
|
|
|
|
NM_001110556.2(FLNA):c.7802G>A (p.Cys2601Tyr)
|
rs1060500721
|
|
|
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
|
|
|
|
NM_001110556.2(FLNA):c.7817_7820del (p.Val2606fs)
|
rs1557175175
|
|
|
NM_001110556.2(FLNA):c.781C>G (p.Leu261Val)
|
rs2067771137
|
|
|
NM_001110556.2(FLNA):c.781C>T (p.Leu261=)
|
rs2067771137
|
|
|
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr)
|
rs781993962
|
|
|
NM_001110556.2(FLNA):c.7837C>G (p.Leu2613Val)
|
|
|
|
NM_001110556.2(FLNA):c.7847T>C (p.Val2616Ala)
|
rs782411364
|
|
|
NM_001110556.2(FLNA):c.7848G>A (p.Val2616=)
|
|
|
|
NM_001110556.2(FLNA):c.7857G>A (p.Leu2619=)
|
rs2148099708
|
|
|
NM_001110556.2(FLNA):c.7860C>G (p.Leu2620=)
|
|
|
|
NM_001110556.2(FLNA):c.7869G>A (p.Lys2623=)
|
|
|
|
NM_001110556.2(FLNA):c.7871G>C (p.Gly2624Ala)
|
|
|
|
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)
|
rs1603358246
|
|
|
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
|
|
|
|
NM_001110556.2(FLNA):c.7895G>T (p.Trp2632Leu)
|
|
|
|
NM_001110556.2(FLNA):c.7896G>C (p.Trp2632Cys)
|
rs398122812
|
|
|
NM_001110556.2(FLNA):c.7898_7900del (p.Gly2633del)
|
rs863223635
|
|
|
NM_001110556.2(FLNA):c.7899G>A (p.Gly2633=)
|
|
|
|
NM_001110556.2(FLNA):c.78C>T (p.Ala26=)
|
|
|
|
NM_001110556.2(FLNA):c.7900G>T (p.Asp2634Tyr)
|
|
|
|
NM_001110556.2(FLNA):c.7908C>T (p.His2636=)
|
|
|
|
NM_001110556.2(FLNA):c.7919G>T (p.Ser2640Ile)
|
rs1557175110
|
|
|
NM_001110556.2(FLNA):c.7927C>G (p.Arg2643Gly)
|
rs200836471
|
|
|
NM_001110556.2(FLNA):c.7928G>C (p.Arg2643Pro)
|
rs782641074
|
|
|
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
|
|
|
|
NM_001110556.2(FLNA):c.7932_7934del (p.Val2646del)
|
rs1060500715
|
|
|
NM_001110556.2(FLNA):c.7941_7942del (p.Ter2648SerextTer?)
|
rs863223636
|
|
|
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
|
rs2148118964
|
|
|
NM_001110556.2(FLNA):c.813A>G (p.Pro271=)
|
rs2148118962
|
|
|
NM_001110556.2(FLNA):c.81G>C (p.Glu27Asp)
|
|
|
|
NM_001110556.2(FLNA):c.822C>T (p.Pro274=)
|
|
|
|
NM_001110556.2(FLNA):c.827G>A (p.Arg276Gln)
|
|
|
|
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
|
rs2148118942
|
|
|
NM_001110556.2(FLNA):c.830C>T (p.Pro277Leu)
|
rs1557179540
|
|
|
NM_001110556.2(FLNA):c.832A>G (p.Lys278Glu)
|
|
|
|
NM_001110556.2(FLNA):c.84G>C (p.Met28Ile)
|
rs1603363939
|
|
|
NM_001110556.2(FLNA):c.853C>T (p.Arg285Cys)
|
rs1557179536
|
|
|
NM_001110556.2(FLNA):c.858C>A (p.Ala286=)
|
rs2067770714
|
|
|
NM_001110556.2(FLNA):c.868+17A>G
|
|
|
|
NM_001110556.2(FLNA):c.868+18G>A
|
|
|
|
NM_001110556.2(FLNA):c.868+19G>C
|
|
|
|
NM_001110556.2(FLNA):c.868+1G>A
|
|
|
|
NM_001110556.2(FLNA):c.868+9G>C
|
rs910565220
|
|
|
NM_001110556.2(FLNA):c.869-15G>A
|
rs1557179433
|
|
|
NM_001110556.2(FLNA):c.869-16C>T
|
|
|
|
NM_001110556.2(FLNA):c.874G>A (p.Glu292Lys)
|
|
|
|
NM_001110556.2(FLNA):c.889A>C (p.Met297Leu)
|
rs2148118498
|
|
|
NM_001110556.2(FLNA):c.901C>A (p.Arg301=)
|
|
|
|
NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)
|
|
|
|
NM_001110556.2(FLNA):c.90C>T (p.Ala30=)
|
rs781895805
|
|
|
NM_001110556.2(FLNA):c.910T>G (p.Phe304Val)
|
|
|
|
NM_001110556.2(FLNA):c.917_918del (p.Val306fs)
|
|
|
|
NM_001110556.2(FLNA):c.933T>G (p.Ala311=)
|
rs782592312
|
|
|
NM_001110556.2(FLNA):c.93C>T (p.Thr31=)
|
rs1436289913
|
|
|
NM_001110556.2(FLNA):c.945G>A (p.Glu315=)
|
rs2148118444
|
|
|
NM_001110556.2(FLNA):c.94G>A (p.Glu32Lys)
|
|
|
|
NM_001110556.2(FLNA):c.954G>A (p.Val318=)
|
rs2148118437
|
|
|
NM_001110556.2(FLNA):c.959T>G (p.Val320Gly)
|
rs1064816
|
|
|
NM_001110556.2(FLNA):c.95A>G (p.Glu32Gly)
|
rs2067803278
|
|
|
NM_001110556.2(FLNA):c.972C>G (p.Ala324=)
|
rs781806385
|
|
|
NM_001110556.2(FLNA):c.974G>A (p.Gly325Glu)
|
|
|
|
NM_001110556.2(FLNA):c.982G>C (p.Glu328Gln)
|
rs1342130392
|
|
|
NM_001110556.2(FLNA):c.987+11C>A
|
|
|
|
NM_001110556.2(FLNA):c.987+11C>T
|
rs782385981
|
|
|
NM_001110556.2(FLNA):c.987+8C>T
|
|
|
|
NM_001110556.2(FLNA):c.988-10C>T
|
rs1603362942
|
|
|
NM_001110556.2(FLNA):c.988-13C>T
|
|
|
|
NM_001110556.2(FLNA):c.988-14C>T
|
|
|
|
NM_001110556.2(FLNA):c.988-7A>G
|
rs2148118325
|
|
|
NM_001110556.2(FLNA):c.988-8C>T
|
rs2148118330
|
|
|
NM_001110556.2(FLNA):c.988-9C>T
|
rs978710698
|
|
|
NM_001110556.2(FLNA):c.989C>G (p.Ala330Gly)
|
|
|
|
NM_001110556.2(FLNA):c.991A>G (p.Lys331Glu)
|
|
|
|
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer)
|
rs1557179357
|
|
|
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
|
rs267608426
|
|
|
NM_001111125.3(IQSEC2):c.1000-10T>C
|
rs2147123327
|
|
|
NM_001111125.3(IQSEC2):c.1000-12del
|
|
|
|
NM_001111125.3(IQSEC2):c.1000-17C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.1000-6_1001dup
|
|
|
|
NM_001111125.3(IQSEC2):c.1000-9C>T
|
rs1556864744
|
|
|
NM_001111125.3(IQSEC2):c.1008G>C (p.Met336Ile)
|
rs2074444300
|
|
|
NM_001111125.3(IQSEC2):c.1008G>T (p.Met336Ile)
|
rs2074444300
|
|
|
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs)
|
rs2074443766
|
|
|
NM_001111125.3(IQSEC2):c.1054A>G (p.Arg352Gly)
|
|
|
|
NM_001111125.3(IQSEC2):c.1059C>G (p.Thr353=)
|
rs2147123040
|
|
|
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.106C>T (p.Leu36=)
|
rs2146552909
|
|
|
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs)
|
rs1602291861
|
|
|
NM_001111125.3(IQSEC2):c.1089G>A (p.Met363Ile)
|
rs2147122803
|
|
|
NM_001111125.3(IQSEC2):c.108G>A (p.Leu36=)
|
rs1602383725
|
|
|
NM_001111125.3(IQSEC2):c.1105C>A (p.Arg369=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1110A>C (p.Leu370=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1115G>C (p.Ser372Thr)
|
rs2074442571
|
|
|
NM_001111125.3(IQSEC2):c.1128G>A (p.Glu376=)
|
rs2147122484
|
|
|
NM_001111125.3(IQSEC2):c.1147A>G (p.Ile383Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.1158C>T (p.Ser386=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1171C>A (p.Gln391Lys)
|
rs2074441863
|
|
|
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter)
|
rs1602291658
|
|
|
NM_001111125.3(IQSEC2):c.1194G>A (p.Glu398=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1218C>T (p.Phe406=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1219G>A (p.Glu407Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1230T>C (p.Pro410=)
|
rs2147121849
|
|
|
NM_001111125.3(IQSEC2):c.1250C>A (p.Ala417Asp)
|
|
|
|
NM_001111125.3(IQSEC2):c.1254G>A (p.Met418Ile)
|
|
|
|
NM_001111125.3(IQSEC2):c.1264C>T (p.Arg422Trp)
|
|
|
|
NM_001111125.3(IQSEC2):c.1274G>A (p.Arg425Gln)
|
rs2074439744
|
|
|
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter)
|
rs2147121012
|
|
|
NM_001111125.3(IQSEC2):c.1313G>A (p.Gly438Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.132C>T (p.Ile44=)
|
rs1556880287
|
|
|
NM_001111125.3(IQSEC2):c.1343C>T (p.Thr448Ile)
|
|
|
|
NM_001111125.3(IQSEC2):c.1385A>G (p.Asp462Gly)
|
|
|
|
NM_001111125.3(IQSEC2):c.1391_1393del (p.Phe464del)
|
rs2074437084
|
|
|
NM_001111125.3(IQSEC2):c.1398A>T (p.Lys466Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.1401+2T>A
|
|
|
|
NM_001111125.3(IQSEC2):c.1401+4A>G
|
rs1556864509
|
|
|
NM_001111125.3(IQSEC2):c.1401+8T>C
|
|
|
|
NM_001111125.3(IQSEC2):c.1402-10C>A
|
rs183644900
|
|
|
NM_001111125.3(IQSEC2):c.1402-10C>G
|
rs183644900
|
|
|
NM_001111125.3(IQSEC2):c.1402-11C>A
|
rs187186062
|
|
|
NM_001111125.3(IQSEC2):c.1402-11C>G
|
rs187186062
|
|
|
NM_001111125.3(IQSEC2):c.1402-11C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.1402-124_1533del
|
|
|
|
NM_001111125.3(IQSEC2):c.1402-12C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.1402-14C>T
|
rs2147105052
|
|
|
NM_001111125.3(IQSEC2):c.1402-15dup
|
rs781861463
|
|
|
NM_001111125.3(IQSEC2):c.1402-18C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.1402-3C>G
|
rs2074385671
|
|
|
NM_001111125.3(IQSEC2):c.1402-9del
|
rs781861463
|
|
|
NM_001111125.3(IQSEC2):c.1402G>A (p.Val468Ile)
|
|
|
|
NM_001111125.3(IQSEC2):c.1402G>C (p.Val468Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.1415C>A (p.Ala472Asp)
|
|
|
|
NM_001111125.3(IQSEC2):c.1422C>T (p.Ser474=)
|
rs2147104494
|
|
|
NM_001111125.3(IQSEC2):c.1429G>A (p.Glu477Lys)
|
rs2147104281
|
|
|
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.1436_1603del (p.Leu479_Thr535delinsPro)
|
rs1556863457
|
|
|
NM_001111125.3(IQSEC2):c.1448C>T (p.Pro483Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.145G>A (p.Gly49Ser)
|
rs2146552703
|
|
|
NM_001111125.3(IQSEC2):c.1463C>G (p.Ser488Cys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1468G>C (p.Glu490Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.1469A>G (p.Glu490Gly)
|
rs782279475
|
|
|
NM_001111125.3(IQSEC2):c.1474G>A (p.Gly492Arg)
|
rs2074383866
|
|
|
NM_001111125.3(IQSEC2):c.1485G>A (p.Gln495=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1496G>A (p.Arg499Gln)
|
rs782243346
|
|
|
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.1512G>A (p.Gln504=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs)
|
rs2074383129
|
|
|
NM_001111125.3(IQSEC2):c.1518G>A (p.Glu506=)
|
rs2147103383
|
|
|
NM_001111125.3(IQSEC2):c.151C>G (p.Leu51Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs)
|
rs1556863492
|
|
|
NM_001111125.3(IQSEC2):c.1554C>G (p.Leu518=)
|
rs782768601
|
|
|
NM_001111125.3(IQSEC2):c.1557C>T (p.Tyr519=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1561G>A (p.Asp521Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter)
|
rs1569302816
|
|
|
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs)
|
rs2074381038
|
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
|
NM_001111125.3(IQSEC2):c.1592G>A (p.Arg531Gln)
|
rs149027201
|
|
|
NM_001111125.3(IQSEC2):c.1603A>C (p.Thr535Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1613C>T (p.Pro538Leu)
|
rs2147102395
|
|
|
NM_001111125.3(IQSEC2):c.1615C>T (p.Pro539Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.1616C>G (p.Pro539Arg)
|
rs2147102337
|
|
|
NM_001111125.3(IQSEC2):c.1616C>T (p.Pro539Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.1624C>T (p.Arg542Trp)
|
|
|
|
NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu)
|
rs782420335
|
|
|
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter)
|
rs2074379209
|
|
|
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs)
|
rs1556863398
|
|
|
NM_001111125.3(IQSEC2):c.1654C>A (p.Pro552Thr)
|
rs1064797066
|
|
|
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln)
|
rs782165719
|
|
|
NM_001111125.3(IQSEC2):c.1668A>G (p.Pro556=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1669C>G (p.Pro557Ala)
|
rs1556863347
|
|
|
NM_001111125.3(IQSEC2):c.1672G>C (p.Val558Leu)
|
rs2074377782
|
|
|
NM_001111125.3(IQSEC2):c.1676C>T (p.Pro559Leu)
|
rs2074377574
|
|
|
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs)
|
rs1556863340
|
|
|
NM_001111125.3(IQSEC2):c.1684A>G (p.Thr562Ala)
|
rs1556863333
|
|
|
NM_001111125.3(IQSEC2):c.1685C>T (p.Thr562Ile)
|
rs2074377330
|
|
|
NM_001111125.3(IQSEC2):c.1688G>A (p.Arg563Gln)
|
rs1556863321
|
|
|
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.1702C>T (p.Arg568Cys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1712G>A (p.Gly571Asp)
|
rs1569302404
|
|
|
NM_001111125.3(IQSEC2):c.1712G>T (p.Gly571Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.1721G>A (p.Arg574Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1731G>A (p.Gly577=)
|
|
|
|
NM_001111125.3(IQSEC2):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.1744C>T (p.Arg582Trp)
|
rs1064797067
|
|
|
NM_001111125.3(IQSEC2):c.1754G>A (p.Arg585Gln)
|
rs2074375518
|
|
|
NM_001111125.3(IQSEC2):c.1760G>A (p.Arg587Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1788T>C (p.Ile596=)
|
rs2147100123
|
|
|
NM_001111125.3(IQSEC2):c.1791G>A (p.Glu597=)
|
rs1319710513
|
|
|
NM_001111125.3(IQSEC2):c.1809C>T (p.Ser603=)
|
rs1602283885
|
|
|
NM_001111125.3(IQSEC2):c.1812G>C (p.Val604=)
|
rs2147099994
|
|
|
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs)
|
rs2074374579
|
|
|
NM_001111125.3(IQSEC2):c.1835G>A (p.Arg612His)
|
|
|
|
NM_001111125.3(IQSEC2):c.1836C>T (p.Arg612=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1850G>A (p.Arg617His)
|
|
|
|
NM_001111125.3(IQSEC2):c.1868C>T (p.Ala623Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1872T>C (p.Asp624=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1878C>T (p.Cys626=)
|
|
|
|
NM_001111125.3(IQSEC2):c.187G>A (p.Glu63Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1884C>T (p.Pro628=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1886A>G (p.His629Arg)
|
rs2074372604
|
|
|
NM_001111125.3(IQSEC2):c.1892C>T (p.Thr631Ile)
|
|
|
|
NM_001111125.3(IQSEC2):c.1893C>A (p.Thr631=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1907G>T (p.Gly636Val)
|
rs2074372213
|
|
|
NM_001111125.3(IQSEC2):c.1911A>C (p.Pro637=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1925C>T (p.Pro642Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs)
|
rs1556863165
|
|
|
NM_001111125.3(IQSEC2):c.1936C>T (p.Arg646Cys)
|
|
|
|
NM_001111125.3(IQSEC2):c.1937G>A (p.Arg646His)
|
|
|
|
NM_001111125.3(IQSEC2):c.1981C>T (p.Pro661Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.1983C>G (p.Pro661=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1984C>T (p.Leu662=)
|
|
|
|
NM_001111125.3(IQSEC2):c.1997C>T (p.Pro666Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.19C>T (p.Pro7Ser)
|
rs2075428522
|
|
|
NM_001111125.3(IQSEC2):c.2008A>G (p.Thr670Ala)
|
|
|
|
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs)
|
rs2074369642
|
|
|
NM_001111125.3(IQSEC2):c.2032G>A (p.Gly678Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2035C>T (p.Arg679Trp)
|
rs2147098048
|
|
|
NM_001111125.3(IQSEC2):c.2036G>A (p.Arg679Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.2036G>T (p.Arg679Leu)
|
rs1345618130
|
|
|
NM_001111125.3(IQSEC2):c.2041T>C (p.Leu681=)
|
rs1556863072
|
|
|
NM_001111125.3(IQSEC2):c.2064C>A (p.Gly688=)
|
rs782766118
|
|
|
NM_001111125.3(IQSEC2):c.2103C>T (p.Ser701=)
|
rs2147097639
|
|
|
NM_001111125.3(IQSEC2):c.2106C>T (p.Ser702=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2117A>G (p.Asn706Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2127C>T (p.Ile709=)
|
rs1556863038
|
|
|
NM_001111125.3(IQSEC2):c.213G>A (p.Glu71=)
|
rs2146552192
|
|
|
NM_001111125.3(IQSEC2):c.2147C>T (p.Ser716Phe)
|
|
|
|
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.2182G>A (p.Gly728Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2220T>C (p.His740=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2221A>T (p.Ser741Cys)
|
rs2147096800
|
|
|
NM_001111125.3(IQSEC2):c.2241C>T (p.Phe747=)
|
|
|
|
NM_001111125.3(IQSEC2):c.225C>A (p.Asp75Glu)
|
rs2075425330
|
|
|
NM_001111125.3(IQSEC2):c.2261G>A (p.Arg754Lys)
|
rs2147096443
|
|
|
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
|
|
|
|
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2271C>T (p.Tyr757=)
|
rs1556862965
|
|
|
NM_001111125.3(IQSEC2):c.2278G>C (p.Gly760Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.2279G>A (p.Gly760Asp)
|
|
|
|
NM_001111125.3(IQSEC2):c.2297+7G>A
|
rs1556862951
|
|
|
NM_001111125.3(IQSEC2):c.2298G>A (p.Lys766=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2304A>G (p.Pro768=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter)
|
rs2147089995
|
|
|
NM_001111125.3(IQSEC2):c.2319G>A (p.Gln773=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2323C>G (p.Leu775Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.2323C>T (p.Leu775=)
|
rs1569300762
|
|
|
NM_001111125.3(IQSEC2):c.2329G>C (p.Glu777Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs)
|
rs2147089642
|
|
|
NM_001111125.3(IQSEC2):c.2342T>C (p.Leu781Pro)
|
rs2074344245
|
|
|
NM_001111125.3(IQSEC2):c.2346A>G (p.Ser782=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.2378T>C (p.Leu793Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter)
|
rs1569300687
|
|
|
NM_001111125.3(IQSEC2):c.2383C>T (p.Arg795Trp)
|
|
|
|
NM_001111125.3(IQSEC2):c.2384G>A (p.Arg795Gln)
|
rs2147089214
|
|
|
NM_001111125.3(IQSEC2):c.239G>A (p.Arg80Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.23C>G (p.Pro8Arg)
|
rs1556880353
|
|
|
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.2422G>A (p.Gly808Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.2459+8C>A
|
rs1485084441
|
|
|
NM_001111125.3(IQSEC2):c.2460-15T>C
|
|
|
|
NM_001111125.3(IQSEC2):c.2460-2A>G
|
rs1602279457
|
|
|
NM_001111125.3(IQSEC2):c.2467G>C (p.Val823Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.2469G>A (p.Val823=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2491A>G (p.Met831Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
|
NM_001111125.3(IQSEC2):c.2508G>T (p.Ala836=)
|
rs2274308
|
|
|
NM_001111125.3(IQSEC2):c.2525C>G (p.Ser842Cys)
|
rs2074335826
|
|
|
NM_001111125.3(IQSEC2):c.2529T>C (p.His843=)
|
rs2147086012
|
|
|
NM_001111125.3(IQSEC2):c.2531T>A (p.Ile844Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.2539C>A (p.Gln847Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.254G>A (p.Arg85His)
|
rs1556880243
|
|
|
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter)
|
rs587777261
|
|
|
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2576C>A (p.Ala859Asp)
|
rs2074335191
|
|
|
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG
|
rs2147085327
|
|
|
NM_001111125.3(IQSEC2):c.2582+1del
|
rs2074335019
|
|
|
NM_001111125.3(IQSEC2):c.2582+20G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.2582+3G>T
|
rs782493529
|
|
|
NM_001111125.3(IQSEC2):c.2582+4T>G
|
|
|
|
NM_001111125.3(IQSEC2):c.2583-14dup
|
|
|
|
NM_001111125.3(IQSEC2):c.258G>A (p.Glu86=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2618G>C (p.Arg873Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.2621A>G (p.Gln874Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.2631C>T (p.Asn877=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2652T>C (p.Leu884=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2667C>T (p.Ile889=)
|
rs2147080648
|
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
|
NM_001111125.3(IQSEC2):c.2679C>G (p.Thr893=)
|
rs782193796
|
|
|
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn)
|
rs1602277527
|
|
|
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr)
|
rs2147080510
|
|
|
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.2697C>T (p.Ser899=)
|
rs1602277510
|
|
|
NM_001111125.3(IQSEC2):c.2707G>C (p.Glu903Gln)
|
rs2074317421
|
|
|
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter)
|
rs2074317360
|
|
|
NM_001111125.3(IQSEC2):c.2727T>C (p.Asp909=)
|
rs2147080245
|
|
|
NM_001111125.3(IQSEC2):c.2749G>A (p.Gly917Arg)
|
rs2147080183
|
|
|
NM_001111125.3(IQSEC2):c.2750-7C>T
|
rs1602271589
|
|
|
NM_001111125.3(IQSEC2):c.2750-9C>T
|
rs1556861395
|
|
|
NM_001111125.3(IQSEC2):c.2750G>A (p.Gly917Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.2758A>G (p.Asn920Asp)
|
|
|
|
NM_001111125.3(IQSEC2):c.2760T>C (p.Asn920=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
|
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del)
|
rs1602271471
|
|
|
NM_001111125.3(IQSEC2):c.2794A>G (p.Ile932Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.279C>T (p.Arg93=)
|
|
|
|
NM_001111125.3(IQSEC2):c.27C>T (p.Gly9=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2821C>T (p.Leu941=)
|
rs2147060225
|
|
|
NM_001111125.3(IQSEC2):c.2828C>G (p.Thr943Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=)
|
rs782519675
|
|
|
NM_001111125.3(IQSEC2):c.2839C>T (p.His947Tyr)
|
|
|
|
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.2853G>A (p.Val951=)
|
rs1602271333
|
|
|
NM_001111125.3(IQSEC2):c.2857G>A (p.Ala953Thr)
|
rs1556861324
|
|
|
NM_001111125.3(IQSEC2):c.2866C>T (p.Arg956Cys)
|
rs2147059598
|
|
|
NM_001111125.3(IQSEC2):c.2869A>C (p.Met957Leu)
|
rs2074253394
|
|
|
NM_001111125.3(IQSEC2):c.2869A>G (p.Met957Val)
|
rs2074253394
|
|
|
NM_001111125.3(IQSEC2):c.2873T>C (p.Ile958Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.2889+12G>C
|
|
|
|
NM_001111125.3(IQSEC2):c.2889+1G>A
|
rs1556861311
|
|
|
NM_001111125.3(IQSEC2):c.2889+20G>T
|
|
|
|
NM_001111125.3(IQSEC2):c.288G>A (p.Gln96=)
|
rs2146551593
|
|
|
NM_001111125.3(IQSEC2):c.2890-13C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.2890-9C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.2908C>T (p.Arg970Cys)
|
rs2074227300
|
|
|
NM_001111125.3(IQSEC2):c.2909G>A (p.Arg970His)
|
rs1556860937
|
|
|
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter)
|
rs1131691887
|
|
|
NM_001111125.3(IQSEC2):c.291C>G (p.Phe97Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.2941G>T (p.Val981Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.2943G>A (p.Val981=)
|
|
|
|
NM_001111125.3(IQSEC2):c.2956C>T (p.Arg986Cys)
|
rs1556860910
|
|
|
NM_001111125.3(IQSEC2):c.2977C>T (p.His993Tyr)
|
|
|
|
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp)
|
rs1057521657
|
|
|
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.2991C>T (p.Val997=)
|
rs2147049319
|
|
|
NM_001111125.3(IQSEC2):c.3002A>G (p.Asn1001Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.3003T>C (p.Asn1001=)
|
rs2147049244
|
|
|
NM_001111125.3(IQSEC2):c.3015+14G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.3015+15G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.3016-9C>G
|
rs1325334521
|
|
|
NM_001111125.3(IQSEC2):c.3016G>T (p.Val1006Phe)
|
rs2147033257
|
|
|
NM_001111125.3(IQSEC2):c.301G>A (p.Glu101Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.3032AGA[3] (p.Lys1014del)
|
rs1556860396
|
|
|
NM_001111125.3(IQSEC2):c.3038A>G (p.Lys1013Arg)
|
rs2074181844
|
|
|
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=)
|
rs782748833
|
|
|
NM_001111125.3(IQSEC2):c.3054G>C (p.Thr1018=)
|
rs782748833
|
|
|
NM_001111125.3(IQSEC2):c.306G>A (p.Leu102=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3072T>C (p.Ser1024=)
|
rs1602264305
|
|
|
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs)
|
rs1602264294
|
|
|
NM_001111125.3(IQSEC2):c.3075C>T (p.Phe1025=)
|
rs1602264279
|
|
|
NM_001111125.3(IQSEC2):c.3093C>T (p.His1031=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3099G>A (p.Gln1033=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter)
|
rs2147032671
|
|
|
NM_001111125.3(IQSEC2):c.3115+13T>C
|
|
|
|
NM_001111125.3(IQSEC2):c.3115T>A (p.Tyr1039Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.3116-6C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.3139C>T (p.Leu1047=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3151C>G (p.Pro1051Ala)
|
|
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
|
NM_001111125.3(IQSEC2):c.3164G>A (p.Arg1055Gln)
|
rs1407117835
|
|
|
NM_001111125.3(IQSEC2):c.3188C>T (p.Ala1063Val)
|
rs2074165930
|
|
|
NM_001111125.3(IQSEC2):c.318G>A (p.Gln106=)
|
rs2146551348
|
|
|
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly)
|
rs367700660
|
|
|
NM_001111125.3(IQSEC2):c.3201G>A (p.Gln1067=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3206G>C (p.Arg1069Pro)
|
rs782632137
|
|
|
NM_001111125.3(IQSEC2):c.3210G>A (p.Leu1070=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3223G>A (p.Asp1075Asn)
|
rs2074165173
|
|
|
NM_001111125.3(IQSEC2):c.3225C>G (p.Asp1075Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.3228G>A (p.Leu1076=)
|
rs1284351565
|
|
|
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs)
|
rs2147026571
|
|
|
NM_001111125.3(IQSEC2):c.3252G>A (p.Gln1084=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.3269G>A (p.Arg1090His)
|
rs2074164267
|
|
|
NM_001111125.3(IQSEC2):c.3278-10T>C
|
rs2147015945
|
|
|
NM_001111125.3(IQSEC2):c.3278-13G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
|
NM_001111125.3(IQSEC2):c.3282G>A (p.Glu1094=)
|
rs2147015788
|
|
|
NM_001111125.3(IQSEC2):c.3296A>G (p.Lys1099Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.3301A>G (p.Met1101Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.3304A>C (p.Met1102Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.3316G>A (p.Ala1106Thr)
|
rs2074131912
|
|
|
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met)
|
rs782558010
|
|
|
NM_001111125.3(IQSEC2):c.3361G>T (p.Ala1121Ser)
|
rs2074131194
|
|
|
NM_001111125.3(IQSEC2):c.3362C>T (p.Ala1121Val)
|
rs781964002
|
|
|
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His)
|
rs868984872
|
|
|
NM_001111125.3(IQSEC2):c.3374T>G (p.Leu1125Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter)
|
rs374220843
|
|
|
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter)
|
rs374220843
|
|
|
NM_001111125.3(IQSEC2):c.3414C>A (p.Gly1138=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3420C>A (p.Leu1140=)
|
rs1602259971
|
|
|
NM_001111125.3(IQSEC2):c.3429C>T (p.Ser1143=)
|
rs2147014056
|
|
|
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter)
|
rs1556859652
|
|
|
NM_001111125.3(IQSEC2):c.3451+1G>C
|
|
|
|
NM_001111125.3(IQSEC2):c.3452-17C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.3452-9T>C
|
|
|
|
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly)
|
rs2074117985
|
|
|
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)
|
rs2074117985
|
|
|
NM_001111125.3(IQSEC2):c.3467G>A (p.Arg1156His)
|
|
|
|
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=)
|
rs2147010150
|
|
|
NM_001111125.3(IQSEC2):c.3483G>A (p.Ser1161=)
|
rs781859452
|
|
|
NM_001111125.3(IQSEC2):c.3502-12C>T
|
|
|
|
NM_001111125.3(IQSEC2):c.3502-14C>A
|
|
|
|
NM_001111125.3(IQSEC2):c.3502-15C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.3502-19C>A
|
rs782166410
|
|
|
NM_001111125.3(IQSEC2):c.3502-9C>T
|
rs2074108627
|
|
|
NM_001111125.3(IQSEC2):c.3546T>G (p.Pro1182=)
|
rs1602258133
|
|
|
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=)
|
rs1556859344
|
|
|
NM_001111125.3(IQSEC2):c.3554C>G (p.Pro1185Arg)
|
rs1556859338
|
|
|
NM_001111125.3(IQSEC2):c.3557C>G (p.Pro1186Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.355C>G (p.Arg119Gly)
|
rs2075423381
|
|
|
NM_001111125.3(IQSEC2):c.3561G>C (p.Pro1187=)
|
rs1286507586
|
|
|
NM_001111125.3(IQSEC2):c.356G>T (p.Arg119Leu)
|
rs782770335
|
|
|
NM_001111125.3(IQSEC2):c.3570G>A (p.Glu1190=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3573G>A (p.Glu1191=)
|
rs1556859307
|
|
|
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3591C>T (p.Pro1197=)
|
rs909191485
|
|
|
NM_001111125.3(IQSEC2):c.3599A>G (p.Asn1200Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs)
|
rs2147003883
|
|
|
NM_001111125.3(IQSEC2):c.3635A>G (p.Lys1212Arg)
|
|
|
|
NM_001111125.3(IQSEC2):c.3638G>C (p.Arg1213Pro)
|
rs1556859281
|
|
|
NM_001111125.3(IQSEC2):c.3640G>A (p.Gly1214Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.3665C>T (p.Pro1222Leu)
|
rs2074105508
|
|
|
NM_001111125.3(IQSEC2):c.3666A>G (p.Pro1222=)
|
rs1602257857
|
|
|
NM_001111125.3(IQSEC2):c.3668C>A (p.Pro1223Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.3674C>T (p.Thr1225Ile)
|
rs2147004930
|
|
|
NM_001111125.3(IQSEC2):c.3683C>T (p.Ala1228Val)
|
rs2147004797
|
|
|
NM_001111125.3(IQSEC2):c.3687T>A (p.Ser1229=)
|
rs1370477854
|
|
|
NM_001111125.3(IQSEC2):c.3693C>T (p.Ser1231=)
|
rs782095203
|
|
|
NM_001111125.3(IQSEC2):c.3693_3698del (p.Ser1233_Ser1234del)
|
rs782029247
|
|
|
NM_001111125.3(IQSEC2):c.3708T>C (p.Ser1236=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3714G>A (p.Thr1238=)
|
rs1355674546
|
|
|
NM_001111125.3(IQSEC2):c.3715C>T (p.His1239Tyr)
|
|
|
|
NM_001111125.3(IQSEC2):c.3717CCA[4] (p.His1245_His1247del)
|
rs782189881
|
|
|
NM_001111125.3(IQSEC2):c.3717CCA[6] (p.His1247del)
|
rs782189881
|
|
|
NM_001111125.3(IQSEC2):c.3717CCA[8] (p.His1247dup)
|
rs782189881
|
|
|
NM_001111125.3(IQSEC2):c.3721C>T (p.His1241Tyr)
|
rs2147004455
|
|
|
NM_001111125.3(IQSEC2):c.3723C>T (p.His1241=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3732C>T (p.His1244=)
|
rs932042983
|
|
|
NM_001111125.3(IQSEC2):c.373A>C (p.Asn125His)
|
|
|
|
NM_001111125.3(IQSEC2):c.3743G>A (p.Gly1248Asp)
|
|
|
|
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=)
|
rs782399288
|
|
|
NM_001111125.3(IQSEC2):c.3769C>T (p.Leu1257=)
|
rs2074102874
|
|
|
NM_001111125.3(IQSEC2):c.376C>A (p.Arg126=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.3792C>T (p.Leu1264=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3798C>A (p.Ala1266=)
|
rs2147003811
|
|
|
NM_001111125.3(IQSEC2):c.3825G>C (p.Pro1275=)
|
rs1057523277
|
|
|
NM_001111125.3(IQSEC2):c.3832G>A (p.Ala1278Thr)
|
rs1602257496
|
|
|
NM_001111125.3(IQSEC2):c.3840A>T (p.Pro1280=)
|
|
|
|
NM_001111125.3(IQSEC2):c.384T>C (p.Ala128=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3864C>T (p.Pro1288=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3872C>T (p.Pro1291Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
|
NM_001111125.3(IQSEC2):c.3884A>T (p.Gln1295Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.3907C>T (p.Leu1303=)
|
|
|
|
NM_001111125.3(IQSEC2):c.3923C>T (p.Pro1308Leu)
|
rs1260004392
|
|
|
NM_001111125.3(IQSEC2):c.3924G>A (p.Pro1308=)
|
rs1460397663
|
|
|
NM_001111125.3(IQSEC2):c.392G>C (p.Arg131Pro)
|
rs1556880174
|
|
|
NM_001111125.3(IQSEC2):c.3935C>T (p.Ser1312Leu)
|
rs2074099302
|
|
|
NM_001111125.3(IQSEC2):c.3938C>T (p.Ala1313Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.3944_3946del (p.Pro1315_Val1316delinsLeu)
|
rs1569291523
|
|
|
NM_001111125.3(IQSEC2):c.3958C>T (p.Arg1320Cys)
|
rs1556859104
|
|
|
NM_001111125.3(IQSEC2):c.3959G>A (p.Arg1320His)
|
rs2074098874
|
|
|
NM_001111125.3(IQSEC2):c.3969C>T (p.His1323=)
|
|
|
|
NM_001111125.3(IQSEC2):c.397A>G (p.Lys133Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.4014G>T (p.Arg1338=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4034G>A (p.Arg1345Gln)
|
rs1359566569
|
|
|
NM_001111125.3(IQSEC2):c.4038G>A (p.Gly1346=)
|
rs2074097744
|
|
|
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs)
|
rs1064795512
|
|
|
NM_001111125.3(IQSEC2):c.4041T>C (p.Ala1347=)
|
rs2147002214
|
|
|
NM_001111125.3(IQSEC2):c.4044A>C (p.Gly1348=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4051C>T (p.Pro1351Ser)
|
rs1033962543
|
|
|
NM_001111125.3(IQSEC2):c.4056G>C (p.Gln1352His)
|
|
|
|
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4098C>G (p.Ser1366=)
|
rs1200431219
|
|
|
NM_001111125.3(IQSEC2):c.409G>A (p.Ala137Thr)
|
rs2146550740
|
|
|
NM_001111125.3(IQSEC2):c.4106C>T (p.Pro1369Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.4110G>A (p.Leu1370=)
|
rs1214109386
|
|
|
NM_001111125.3(IQSEC2):c.4115G>A (p.Ser1372Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.4119T>C (p.Pro1373=)
|
rs1602256870
|
|
|
NM_001111125.3(IQSEC2):c.4120G>A (p.Ala1374Thr)
|
rs2074096260
|
|
|
NM_001111125.3(IQSEC2):c.4122C>A (p.Ala1374=)
|
rs2147001768
|
|
|
NM_001111125.3(IQSEC2):c.4127A>C (p.Gln1376Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.4129C>T (p.His1377Tyr)
|
rs1556859050
|
|
|
NM_001111125.3(IQSEC2):c.4136C>T (p.Pro1379Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.4138G>A (p.Ala1380Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.4145A>T (p.Lys1382Ile)
|
rs2074095926
|
|
|
NM_001111125.3(IQSEC2):c.4151G>T (p.Gly1384Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.4153C>T (p.Pro1385Ser)
|
rs1556859040
|
|
|
NM_001111125.3(IQSEC2):c.4155T>C (p.Pro1385=)
|
rs1602256804
|
|
|
NM_001111125.3(IQSEC2):c.4165A>G (p.Ile1389Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.4185G>A (p.Gln1395=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4200A>G (p.Ala1400=)
|
rs1602256754
|
|
|
NM_001111125.3(IQSEC2):c.4203C>G (p.Gly1401=)
|
rs1556859024
|
|
|
NM_001111125.3(IQSEC2):c.4203C>T (p.Gly1401=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.4206G>C (p.Ala1402=)
|
rs1057521782
|
|
|
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs)
|
rs2147001369
|
|
|
NM_001111125.3(IQSEC2):c.4217C>A (p.Pro1406His)
|
rs1569291207
|
|
|
NM_001111125.3(IQSEC2):c.4220G>C (p.Gly1407Ala)
|
rs2147001280
|
|
|
NM_001111125.3(IQSEC2):c.4224C>T (p.Ser1408=)
|
rs1602256714
|
|
|
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.4228C>A (p.Pro1410Thr)
|
rs2074094532
|
|
|
NM_001111125.3(IQSEC2):c.4233A>G (p.Pro1411=)
|
rs1602256699
|
|
|
NM_001111125.3(IQSEC2):c.4245C>T (p.Tyr1415=)
|
rs1556859017
|
|
|
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.4252C>T (p.Pro1418Ser)
|
rs1556859015
|
|
|
NM_001111125.3(IQSEC2):c.4256A>C (p.His1419Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.4264C>A (p.Gln1422Lys)
|
|
|
|
NM_001111125.3(IQSEC2):c.4281A>G (p.Pro1427=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4284C>T (p.His1428=)
|
rs2074093429
|
|
|
NM_001111125.3(IQSEC2):c.428A>T (p.Asp143Val)
|
rs2146550650
|
|
|
NM_001111125.3(IQSEC2):c.4296A>C (p.Pro1432=)
|
rs868908850
|
|
|
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs)
|
rs2074091750
|
|
|
NM_001111125.3(IQSEC2):c.4332C>A (p.Ser1444=)
|
rs1556858979
|
|
|
NM_001111125.3(IQSEC2):c.4332C>T (p.Ser1444=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs)
|
rs2147000428
|
|
|
NM_001111125.3(IQSEC2):c.4335T>C (p.Pro1445=)
|
rs1602256403
|
|
|
NM_001111125.3(IQSEC2):c.4344G>A (p.Pro1448=)
|
rs868922938
|
|
|
NM_001111125.3(IQSEC2):c.4344G>T (p.Pro1448=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4348T>C (p.Ser1450Pro)
|
|
|
|
NM_001111125.3(IQSEC2):c.434C>G (p.Thr145Ser)
|
rs1308523144
|
|
|
NM_001111125.3(IQSEC2):c.4350A>G (p.Ser1450=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4353C>G (p.Pro1451=)
|
rs1556858970
|
|
|
NM_001111125.3(IQSEC2):c.4356T>G (p.Leu1452=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4362C>T (p.Pro1454=)
|
rs1556858960
|
|
|
NM_001111125.3(IQSEC2):c.4380G>A (p.Pro1460=)
|
rs1332852634
|
|
|
NM_001111125.3(IQSEC2):c.4384C>T (p.His1462Tyr)
|
|
|
|
NM_001111125.3(IQSEC2):c.438T>G (p.Gly146=)
|
rs1556880144
|
|
|
NM_001111125.3(IQSEC2):c.4390T>C (p.Ser1464Pro)
|
rs1602256252
|
|
|
NM_001111125.3(IQSEC2):c.4391C>G (p.Ser1464Cys)
|
rs1556858946
|
|
|
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs)
|
rs2146999877
|
|
|
NM_001111125.3(IQSEC2):c.4407A>G (p.Thr1469=)
|
rs1556858934
|
|
|
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs)
|
rs2146999914
|
|
|
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs)
|
rs1569290954
|
|
|
NM_001111125.3(IQSEC2):c.4430C>T (p.Pro1477Leu)
|
rs2146999756
|
|
|
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs)
|
rs1556858912
|
|
|
NM_001111125.3(IQSEC2):c.4446C>T (p.Ser1482=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4448G>A (p.Arg1483Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.4455C>T (p.Ser1485=)
|
|
|
|
NM_001111125.3(IQSEC2):c.4457C>T (p.Thr1486Ile)
|
rs2146999666
|
|
|
NM_001111125.3(IQSEC2):c.447C>T (p.Ala149=)
|
|
|
|
NM_001111125.3(IQSEC2):c.448C>A (p.Arg150Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.44G>A (p.Ser15Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.454C>G (p.Arg152Gly)
|
rs2075421810
|
|
|
NM_001111125.3(IQSEC2):c.460G>A (p.Val154Met)
|
rs2075421767
|
|
|
NM_001111125.3(IQSEC2):c.487_531del (p.Asn163_Pro177del)
|
rs2075420581
|
|
|
NM_001111125.3(IQSEC2):c.499G>A (p.Gly167Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.500G>A (p.Gly167Asp)
|
rs2146550039
|
|
|
NM_001111125.3(IQSEC2):c.505G>C (p.Glu169Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.507G>A (p.Glu169=)
|
rs1556880086
|
|
|
NM_001111125.3(IQSEC2):c.525C>T (p.Ala175=)
|
rs2146549736
|
|
|
NM_001111125.3(IQSEC2):c.529C>A (p.Pro177Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.52C>T (p.Arg18Trp)
|
|
|
|
NM_001111125.3(IQSEC2):c.533C>T (p.Ala178Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.539C>T (p.Pro180Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs)
|
rs1602383045
|
|
|
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
|
|
|
|
NM_001111125.3(IQSEC2):c.573G>A (p.Ala191=)
|
rs2146549172
|
|
|
NM_001111125.3(IQSEC2):c.573G>C (p.Ala191=)
|
rs2146549172
|
|
|
NM_001111125.3(IQSEC2):c.57C>G (p.Ala19=)
|
rs1432737111
|
|
|
NM_001111125.3(IQSEC2):c.586_707+728del
|
rs2146544783
|
|
|
NM_001111125.3(IQSEC2):c.590G>T (p.Arg197Leu)
|
rs2075419421
|
|
|
NM_001111125.3(IQSEC2):c.596C>A (p.Pro199Gln)
|
|
|
|
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser)
|
rs1295281780
|
|
|
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
|
|
|
|
NM_001111125.3(IQSEC2):c.620G>A (p.Arg207His)
|
rs1556879985
|
|
|
NM_001111125.3(IQSEC2):c.624C>A (p.Gly208=)
|
|
|
|
NM_001111125.3(IQSEC2):c.625_626delinsAT (p.Ala209Ile)
|
rs2075418559
|
|
|
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs)
|
rs2146548468
|
|
|
NM_001111125.3(IQSEC2):c.628T>A (p.Ser210Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.641G>A (p.Ser214Asn)
|
|
|
|
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser)
|
rs1037744173
|
|
|
NM_001111125.3(IQSEC2):c.645C>T (p.Pro215=)
|
|
|
|
NM_001111125.3(IQSEC2):c.649G>T (p.Ala217Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.659G>T (p.Gly220Val)
|
rs2075417861
|
|
|
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.681C>T (p.Thr227=)
|
rs2146548006
|
|
|
NM_001111125.3(IQSEC2):c.687G>C (p.Pro229=)
|
rs2146547926
|
|
|
NM_001111125.3(IQSEC2):c.692C>T (p.Thr231Met)
|
|
|
|
NM_001111125.3(IQSEC2):c.702G>A (p.Gln234=)
|
rs2146547865
|
|
|
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs)
|
rs2146547822
|
|
|
NM_001111125.3(IQSEC2):c.707+12G>T
|
|
|
|
NM_001111125.3(IQSEC2):c.707+6G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.708-13G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.708-16T>C
|
|
|
|
NM_001111125.3(IQSEC2):c.708-18dup
|
rs782120447
|
|
|
NM_001111125.3(IQSEC2):c.708-19_708-18del
|
|
|
|
NM_001111125.3(IQSEC2):c.727A>G (p.Arg243Gly)
|
|
|
|
NM_001111125.3(IQSEC2):c.737+16C>G
|
|
|
|
NM_001111125.3(IQSEC2):c.738-5C>T
|
rs2147129385
|
|
|
NM_001111125.3(IQSEC2):c.738-9T>A
|
|
|
|
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly)
|
rs2075427734
|
|
|
NM_001111125.3(IQSEC2):c.750T>C (p.Asp250=)
|
|
|
|
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
|
|
|
|
NM_001111125.3(IQSEC2):c.765C>A (p.Asp255Glu)
|
|
|
|
NM_001111125.3(IQSEC2):c.765C>T (p.Asp255=)
|
|
|
|
NM_001111125.3(IQSEC2):c.775G>A (p.Ala259Thr)
|
rs2147129010
|
|
|
NM_001111125.3(IQSEC2):c.776C>T (p.Ala259Val)
|
|
|
|
NM_001111125.3(IQSEC2):c.778G>A (p.Val260Ile)
|
rs1556865162
|
|
|
NM_001111125.3(IQSEC2):c.800C>T (p.Pro267Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.801C>G (p.Pro267=)
|
rs2074461496
|
|
|
NM_001111125.3(IQSEC2):c.801C>T (p.Pro267=)
|
|
|
|
NM_001111125.3(IQSEC2):c.803C>A (p.Pro268His)
|
rs368559547
|
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
|
NM_001111125.3(IQSEC2):c.822G>A (p.Leu274=)
|
|
|
|
NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.826C>G (p.Pro276Ala)
|
|
|
|
NM_001111125.3(IQSEC2):c.826C>T (p.Pro276Ser)
|
|
|
|
NM_001111125.3(IQSEC2):c.827C>A (p.Pro276His)
|
|
|
|
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs)
|
rs1556865104
|
|
|
NM_001111125.3(IQSEC2):c.838C>T (p.His280Tyr)
|
|
|
|
NM_001111125.3(IQSEC2):c.848G>A (p.Gly283Asp)
|
rs1241595562
|
|
|
NM_001111125.3(IQSEC2):c.848G>C (p.Gly283Ala)
|
rs1241595562
|
|
|
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs)
|
rs782660318
|
|
|
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs)
|
rs782660318
|
|
|
NM_001111125.3(IQSEC2):c.850C>A (p.Pro284Thr)
|
rs782531514
|
|
|
NM_001111125.3(IQSEC2):c.852C>T (p.Pro284=)
|
rs1280970744
|
|
|
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.856G>A (p.Ala286Thr)
|
|
|
|
NM_001111125.3(IQSEC2):c.862G>A (p.Val288Met)
|
|
|
|
NM_001111125.3(IQSEC2):c.863del (p.Val288fs)
|
rs1556865060
|
|
|
NM_001111125.3(IQSEC2):c.882G>C (p.Gln294His)
|
|
|
|
NM_001111125.3(IQSEC2):c.889C>T (p.Arg297Cys)
|
rs990189482
|
|
|
NM_001111125.3(IQSEC2):c.890G>A (p.Arg297His)
|
|
|
|
NM_001111125.3(IQSEC2):c.89T>C (p.Ile30Thr)
|
rs2146553075
|
|
|
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)
|
|
|
|
NM_001111125.3(IQSEC2):c.910G>T (p.Ala304Ser)
|
rs782768117
|
|
|
NM_001111125.3(IQSEC2):c.912C>T (p.Ala304=)
|
rs2147127620
|
|
|
NM_001111125.3(IQSEC2):c.936G>A (p.Glu312=)
|
rs2074458569
|
|
|
NM_001111125.3(IQSEC2):c.937A>C (p.Ile313Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.944G>A (p.Arg315His)
|
|
|
|
NM_001111125.3(IQSEC2):c.959C>T (p.Ser320Leu)
|
|
|
|
NM_001111125.3(IQSEC2):c.960G>C (p.Ser320=)
|
rs782062867
|
|
|
NM_001111125.3(IQSEC2):c.968A>G (p.Tyr323Cys)
|
|
|
|
NM_001111125.3(IQSEC2):c.96C>T (p.Ser32=)
|
|
|
|
NM_001111125.3(IQSEC2):c.999+12G>A
|
|
|
|
NM_001111125.3(IQSEC2):c.999+7C>T
|
|
|
|
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
|
|
|
|
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
|
|
|
|
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
|
|
|
|
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
|
|
|
|
NM_001159699.2(FHL1):c.108G>A (p.Val36=)
|
rs2073842775
|
|
|
NM_001159699.2(FHL1):c.108del (p.Gln37fs)
|
rs1060502840
|
|
|
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
|
|
|
|
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
|
|
|
|
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr)
|
rs1569530250
|
|
|
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
|
|
|
|
NM_001159699.2(FHL1):c.135G>A (p.Leu45=)
|
rs1603270464
|
|
|
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
|
|
|
|
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu)
|
rs2148371771
|
|
|
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
|
|
|
|
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
|
|
|
|
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
|
|
|
|
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln)
|
rs754421860
|
|
|
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
|
|
|
|
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
|
|
|
|
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg)
|
rs2148371880
|
|
|
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr)
|
rs1556638703
|
|
|
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
|
|
|
|
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
|
|
|
|
NM_001159699.2(FHL1):c.183G>A (p.Lys61=)
|
rs780792982
|
|
|
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser)
|
rs1467233713
|
|
|
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
|
|
|
|
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
|
|
|
|
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe)
|
rs1327221666
|
|
|
NM_001159699.2(FHL1):c.204+17T>C
|
|
|
|
NM_001159699.2(FHL1):c.204+7G>C
|
|
|
|
NM_001159699.2(FHL1):c.205-13G>A
|
|
|
|
NM_001159699.2(FHL1):c.205-14T>C
|
|
|
|
NM_001159699.2(FHL1):c.205-19C>T
|
|
|
|
NM_001159699.2(FHL1):c.205-1G>A
|
rs2073859427
|
|
|
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
|
|
|
|
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter)
|
rs2073860048
|
|
|
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
|
|
|
|
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys)
|
rs1343871742
|
|
|
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
|
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
|
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
|
|
|
|
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter)
|
rs777580253
|
|
|
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
|
|
|
|
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn)
|
rs2073861633
|
|
|
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg)
|
rs2148373315
|
|
|
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
|
|
|
|
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
|
|
|
|
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
|
|
|
|
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
|
|
|
|
NM_001159699.2(FHL1):c.288del (p.Phe96fs)
|
rs2148373432
|
|
|
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
|
|
|
|
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del)
|
rs1237021594
|
|
|
NM_001159699.2(FHL1):c.301A>C (p.Asn101His)
|
rs2073862975
|
|
|
NM_001159699.2(FHL1):c.309C>A (p.Ile103=)
|
rs372049507
|
|
|
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
|
|
|
|
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
|
|
|
|
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg)
|
rs2073864792
|
|
|
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met)
|
rs1311888697
|
|
|
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val)
|
rs1556638919
|
|
|
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp)
|
rs1277704131
|
|
|
NM_001159699.2(FHL1):c.360dup (p.Phe121fs)
|
rs1556638935
|
|
|
NM_001159699.2(FHL1):c.377_379+24del
|
rs2148373814
|
|
|
NM_001159699.2(FHL1):c.379+10C>T
|
rs2148373876
|
|
|
NM_001159699.2(FHL1):c.379+11C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+18C>T
|
rs2148373890
|
|
|
NM_001159699.2(FHL1):c.379+19C>A
|
|
|
|
NM_001159699.2(FHL1):c.379+19C>T
|
|
|
|
NM_001159699.2(FHL1):c.379+1G>A
|
rs2073866799
|
|
|
NM_001159699.2(FHL1):c.379+7C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-10C>G
|
|
|
|
NM_001159699.2(FHL1):c.380-14G>A
|
|
|
|
NM_001159699.2(FHL1):c.380-16T>G
|
|
|
|
NM_001159699.2(FHL1):c.380-2A>G
|
rs2148375467
|
|
|
NM_001159699.2(FHL1):c.380-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.380-9C>T
|
rs766762163
|
|
|
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
|
|
|
|
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup)
|
rs2073883748
|
|
|
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
|
|
|
|
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
|
|
|
|
NM_001159699.2(FHL1):c.393G>A (p.Val131=)
|
rs2148375546
|
|
|
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
|
|
|
|
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
|
|
|
|
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala)
|
rs886042453
|
|
|
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)
|
rs1569530437
|
|
|
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter)
|
rs122458140
|
|
|
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys)
|
rs1556639109
|
|
|
NM_001159699.2(FHL1):c.414del (p.Trp138fs)
|
rs2148375686
|
|
|
NM_001159699.2(FHL1):c.416A>G (p.His139Arg)
|
rs267606812
|
|
|
NM_001159699.2(FHL1):c.417C>A (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.417C>G (p.His139Gln)
|
rs267606813
|
|
|
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
|
|
|
|
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs)
|
rs2073885767
|
|
|
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg)
|
rs1569530450
|
|
|
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
|
|
|
|
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu)
|
rs1603271576
|
|
|
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
|
|
|
|
NM_001159699.2(FHL1):c.432C>G (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.432C>T (p.Thr144=)
|
rs1603271583
|
|
|
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly)
|
rs878854460
|
|
|
NM_001159699.2(FHL1):c.441del (p.Cys148fs)
|
rs2148375860
|
|
|
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro)
|
rs2148375919
|
|
|
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp)
|
rs2073887416
|
|
|
NM_001159699.2(FHL1):c.456C>A (p.Ile152=)
|
rs747594885
|
|
|
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
|
|
|
|
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)
|
rs1556639151
|
|
|
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu)
|
rs2073888626
|
|
|
NM_001159699.2(FHL1):c.471C>T (p.Phe157=)
|
rs2148376029
|
|
|
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup)
|
rs1314023088
|
|
|
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)
|
rs2148376111
|
|
|
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del)
|
rs886044209
|
|
|
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg)
|
rs1603271659
|
|
|
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr)
|
rs122459146
|
|
|
NM_001159699.2(FHL1):c.498C>G (p.Cys166Trp)
|
rs145445372
|
|
|
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
|
|
|
|
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser)
|
rs2073890274
|
|
|
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly)
|
rs122458144
|
|
|
NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr)
|
rs122458145
|
|
|
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
|
|
|
|
NM_001159699.2(FHL1):c.50T>C (p.Met17Thr)
|
|
|
|
NM_001159699.2(FHL1):c.510T>C (p.His170=)
|
rs1603271708
|
|
|
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
|
|
|
|
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
|
|
|
|
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
|
|
|
|
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
|
|
|
|
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
|
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
|
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly)
|
rs1556639237
|
|
|
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr)
|
rs1569530504
|
|
|
NM_001159699.2(FHL1):c.549+20C>T
|
|
|
|
NM_001159699.2(FHL1):c.549+3A>G
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>C
|
|
|
|
NM_001159699.2(FHL1):c.549+4T>G
|
|
|
|
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
|
|
|
|
NM_001159699.2(FHL1):c.550-13C>G
|
rs372709825
|
|
|
NM_001159699.2(FHL1):c.550-13C>T
|
|
|
|
NM_001159699.2(FHL1):c.550-15C>T
|
rs764137409
|
|
|
NM_001159699.2(FHL1):c.550-16A>G
|
|
|
|
NM_001159699.2(FHL1):c.550-18C>G
|
|
|
|
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
|
|
|
|
NM_001159699.2(FHL1):c.558A>G (p.Thr186=)
|
rs2148378187
|
|
|
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter)
|
rs2148371451
|
|
|
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg)
|
rs2148378198
|
|
|
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
|
|
|
|
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter)
|
rs1603272191
|
|
|
NM_001159699.2(FHL1):c.585G>A (p.Gln195=)
|
rs2148378283
|
|
|
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
|
|
|
|
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter)
|
rs1191211949
|
|
|
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
|
|
|
|
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
|
|
|
|
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)
|
rs1569530588
|
|
|
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
|
|
|
|
NM_001159699.2(FHL1):c.618del (p.Cys207fs)
|
rs2148378462
|
|
|
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp)
|
rs2148378483
|
|
|
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys)
|
rs1406462908
|
|
|
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly)
|
rs2073912710
|
|
|
NM_001159699.2(FHL1):c.63T>C (p.Phe21=)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu)
|
rs2073841797
|
|
|
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter)
|
rs1603272223
|
|
|
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs)
|
rs2073913069
|
|
|
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
|
|
|
|
NM_001159699.2(FHL1):c.661dup (p.Asp221fs)
|
rs1556639379
|
|
|
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg)
|
rs915687031
|
|
|
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=)
|
rs1603272258
|
|
|
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs)
|
rs1603272263
|
|
|
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
|
|
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
|
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe)
|
rs2073842039
|
|
|
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys)
|
rs2073914454
|
|
|
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
|
|
|
|
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup)
|
rs1569530609
|
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
|
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser)
|
rs2073916017
|
|
|
NM_001159699.2(FHL1):c.726C>T (p.Asn242=)
|
rs781537817
|
|
|
NM_001159699.2(FHL1):c.729C>A (p.Pro243=)
|
rs1060504733
|
|
|
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
|
|
|
|
NM_001159699.2(FHL1):c.736+1G>C
|
rs786200914
|
|
|
NM_001159699.2(FHL1):c.736+2T>G
|
rs2073916521
|
|
|
NM_001159699.2(FHL1):c.736+3_736+4del
|
|
|
|
NM_001159699.2(FHL1):c.736+5G>T
|
|
|
|
NM_001159699.2(FHL1):c.736+9A>T
|
|
|
|
NM_001159699.2(FHL1):c.737-10T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-11T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-13T>G
|
|
|
|
NM_001159699.2(FHL1):c.737-13_737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.737-14_737-13insCTTT
|
rs767661713
|
|
|
NM_001159699.2(FHL1):c.737-16T>C
|
|
|
|
NM_001159699.2(FHL1):c.737-18_737-15del
|
rs2148383206
|
|
|
NM_001159699.2(FHL1):c.737-22_737-19del
|
|
|
|
NM_001159699.2(FHL1):c.737-3del
|
rs368428875
|
|
|
NM_001159699.2(FHL1):c.737-3dup
|
|
|
|
NM_001159699.2(FHL1):c.737-6C>T
|
|
|
|
NM_001159699.2(FHL1):c.737-7C>T
|
rs774150299
|
|
|
NM_001159699.2(FHL1):c.737-8C>A
|
rs2076705
|
|
|
NM_001159699.2(FHL1):c.737-9_737-8delinsCT
|
rs1603273550
|
|
|
NM_001159699.2(FHL1):c.737-9del
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.737-9dup
|
rs374867802
|
|
|
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
|
|
|
|
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
|
|
|
|
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
|
|
|
|
NM_001159699.2(FHL1):c.753C>T (p.Ser251=)
|
rs2148383466
|
|
|
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
|
|
|
|
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=)
|
rs2148371522
|
|
|
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg)
|
rs2148371530
|
|
|
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg)
|
rs1389916579
|
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
|
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
|
|
|
|
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr)
|
rs1569530811
|
|
|
NM_001159699.2(FHL1):c.786C>A (p.His262Gln)
|
rs141231353
|
|
|
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
|
|
|
|
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser)
|
rs56391414
|
|
|
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
|
|
|
|
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
|
|
|
|
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr)
|
rs1569530823
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
|
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg)
|
rs1569530825
|
|
|
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr)
|
rs869025431
|
|
|
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
|
|
|
|
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr)
|
rs2073964922
|
|
|
NM_001159699.2(FHL1):c.816C>A (p.Ser272=)
|
rs758552293
|
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
|
NM_001159699.2(FHL1):c.819G>C (p.Val273=)
|
rs2148383774
|
|
|
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val)
|
rs2148383784
|
|
|
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
|
|
|
|
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser)
|
rs2148383804
|
|
|
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
|
|
|
|
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
|
|
|
|
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
|
|
|
|
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
|
|
|
|
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs)
|
rs1603273685
|
|
|
NM_001159699.2(FHL1):c.847C>A (p.His283Asn)
|
rs2148383871
|
|
|
NM_001159699.2(FHL1):c.852G>A (p.Gln284=)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
|
|
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_001159699.2(FHL1):c.855G>A (p.Glu285=)
|
rs1556639756
|
|
|
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
|
|
|
|
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
|
|
|
|
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs)
|
rs2148383945
|
|
|
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
|
|
|
|
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly)
|
rs2073967346
|
|
|
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe)
|
rs1603273709
|
|
|
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser)
|
rs1039991254
|
|
|
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
|
|
|
|
NM_001159699.2(FHL1):c.874T>A (p.Cys292Ser)
|
rs1556639771
|
|
|
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr)
|
rs2148384040
|
|
|
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
|
|
|
|
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
|
|
|
|
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
|
|
|
|
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
|
|
|
|
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr)
|
rs2073968496
|
|
|
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
|
|
|
|
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser)
|
rs1603272887
|
|
|
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
|
|
|
|
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs)
|
rs2148096182
|
|
|
NM_001167.4(XIAP):c.1015A>G (p.Ile339Val)
|
|
|
|
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)
|
rs2053404854
|
|
|
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs)
|
rs1556406033
|
|
|
NM_001167.4(XIAP):c.1042C>T (p.Leu348Phe)
|
|
|
|
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)
|
rs199683465
|
|
|
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
|
rs773573633
|
|
|
NM_001167.4(XIAP):c.104A>G (p.Asn35Ser)
|
|
|
|
NM_001167.4(XIAP):c.1053T>C (p.Cys351=)
|
rs2053405322
|
|
|
NM_001167.4(XIAP):c.1056+13T>A
|
|
|
|
NM_001167.4(XIAP):c.1056+13_1056+14del
|
rs1491462505
|
|
|
NM_001167.4(XIAP):c.1056+21_1056+22del
|
rs2148096290
|
|
|
NM_001167.4(XIAP):c.1056+28_1056+60dup
|
|
|
|
NM_001167.4(XIAP):c.1057-20A>G
|
|
|
|
NM_001167.4(XIAP):c.1066A>G (p.Thr356Ala)
|
|
|
|
NM_001167.4(XIAP):c.108del (p.Pro37fs)
|
rs1556404455
|
|
|
NM_001167.4(XIAP):c.1090A>G (p.Arg364Gly)
|
|
|
|
NM_001167.4(XIAP):c.1099+20A>G
|
rs751904914
|
|
|
NM_001167.4(XIAP):c.1099+2T>C
|
rs2148097889
|
|
|
NM_001167.4(XIAP):c.1099G>A (p.Asp367Asn)
|
|
|
|
NM_001167.4(XIAP):c.1100-14A>T
|
|
|
|
NM_001167.4(XIAP):c.1100-8del
|
|
|
|
NM_001167.4(XIAP):c.1101T>C (p.Asp367=)
|
rs2148107324
|
|
|
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)
|
rs2053505712
|
|
|
NM_001167.4(XIAP):c.1122T>C (p.Pro374=)
|
|
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
|
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)
|
rs2053506466
|
|
|
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu)
|
rs2053506750
|
|
|
NM_001167.4(XIAP):c.1207A>G (p.Asn403Asp)
|
|
|
|
NM_001167.4(XIAP):c.1234G>T (p.Ala412Ser)
|
rs2148107469
|
|
|
NM_001167.4(XIAP):c.124G>A (p.Val42Ile)
|
|
|
|
NM_001167.4(XIAP):c.1257A>G (p.Lys419=)
|
|
|
|
NM_001167.4(XIAP):c.1259A>G (p.Asp420Gly)
|
|
|
|
NM_001167.4(XIAP):c.1264A>G (p.Met422Val)
|
|
|
|
NM_001167.4(XIAP):c.1299A>G (p.Lys433=)
|
|
|
|
NM_001167.4(XIAP):c.1300+10G>T
|
|
|
|
NM_001167.4(XIAP):c.1300+12T>G
|
|
|
|
NM_001167.4(XIAP):c.1300+17T>C
|
rs2148107543
|
|
|
NM_001167.4(XIAP):c.1301-17A>T
|
|
|
|
NM_001167.4(XIAP):c.1301-1G>A
|
|
|
|
NM_001167.4(XIAP):c.1301-20A>C
|
rs1424655367
|
|
|
NM_001167.4(XIAP):c.1301-6_1301-5del
|
|
|
|
NM_001167.4(XIAP):c.1314A>G (p.Glu438=)
|
rs199833128
|
|
|
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter)
|
rs2148112149
|
|
|
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter)
|
rs2148112156
|
|
|
NM_001167.4(XIAP):c.1323A>G (p.Leu441=)
|
rs2148112163
|
|
|
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
|
rs1489246570
|
|
|
NM_001167.4(XIAP):c.134C>T (p.Ser45Leu)
|
|
|
|
NM_001167.4(XIAP):c.1358G>A (p.Cys453Tyr)
|
|
|
|
NM_001167.4(XIAP):c.1380C>T (p.Ile460=)
|
|
|
|
NM_001167.4(XIAP):c.1381G>A (p.Val461Ile)
|
|
|
|
NM_001167.4(XIAP):c.1386del (p.Phe462fs)
|
rs2148112215
|
|
|
NM_001167.4(XIAP):c.140T>C (p.Leu47Pro)
|
|
|
|
NM_001167.4(XIAP):c.1428A>C (p.Glu476Asp)
|
|
|
|
NM_001167.4(XIAP):c.1429G>A (p.Ala477Thr)
|
|
|
|
NM_001167.4(XIAP):c.1452C>T (p.Cys484=)
|
|
|
|
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs)
|
rs2053561076
|
|
|
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
|
|
|
|
NM_001167.4(XIAP):c.168T>C (p.Gly56=)
|
|
|
|
NM_001167.4(XIAP):c.171A>G (p.Glu57=)
|
rs1556404487
|
|
|
NM_001167.4(XIAP):c.180C>T (p.Thr60=)
|
|
|
|
NM_001167.4(XIAP):c.181G>A (p.Val61Met)
|
rs2148089430
|
|
|
NM_001167.4(XIAP):c.185G>A (p.Arg62Gln)
|
|
|
|
NM_001167.4(XIAP):c.18T>C (p.Phe6=)
|
|
|
|
NM_001167.4(XIAP):c.203C>T (p.Ala68Val)
|
rs2148089461
|
|
|
NM_001167.4(XIAP):c.209T>G (p.Val70Gly)
|
|
|
|
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter)
|
rs2053346219
|
|
|
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs)
|
rs2053346343
|
|
|
NM_001167.4(XIAP):c.249C>T (p.His83=)
|
|
|
|
NM_001167.4(XIAP):c.251G>C (p.Arg84Thr)
|
|
|
|
NM_001167.4(XIAP):c.261C>T (p.Ser87=)
|
|
|
|
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)
|
rs2053346722
|
|
|
NM_001167.4(XIAP):c.300T>C (p.Asn100=)
|
rs2148089584
|
|
|
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser)
|
rs28382721
|
|
|
NM_001167.4(XIAP):c.327T>C (p.Gly109=)
|
|
|
|
NM_001167.4(XIAP):c.369C>T (p.Ser123=)
|
|
|
|
NM_001167.4(XIAP):c.371del (p.Arg124fs)
|
|
|
|
NM_001167.4(XIAP):c.376C>G (p.His126Asp)
|
rs2053348107
|
|
|
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)
|
rs1556404575
|
|
|
NM_001167.4(XIAP):c.408T>C (p.His136=)
|
|
|
|
NM_001167.4(XIAP):c.410C>G (p.Ala137Gly)
|
|
|
|
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
|
rs2053348573
|
|
|
NM_001167.4(XIAP):c.438T>G (p.Val146=)
|
|
|
|
NM_001167.4(XIAP):c.445A>G (p.Ile149Val)
|
|
|
|
NM_001167.4(XIAP):c.446dup (p.Ser150fs)
|
rs2053348979
|
|
|
NM_001167.4(XIAP):c.459A>G (p.Ile153Met)
|
rs2148089808
|
|
|
NM_001167.4(XIAP):c.464C>T (p.Pro155Leu)
|
|
|
|
NM_001167.4(XIAP):c.465G>A (p.Pro155=)
|
|
|
|
NM_001167.4(XIAP):c.471C>T (p.Asn157=)
|
|
|
|
NM_001167.4(XIAP):c.478A>G (p.Met160Val)
|
|
|
|
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
|
|
|
|
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)
|
rs2053349276
|
|
|
NM_001167.4(XIAP):c.486T>C (p.Ser162=)
|
rs2053349352
|
|
|
NM_001167.4(XIAP):c.491A>G (p.Glu164Gly)
|
|
|
|
NM_001167.4(XIAP):c.492A>T (p.Glu164Asp)
|
|
|
|
NM_001167.4(XIAP):c.509T>A (p.Phe170Tyr)
|
rs2148089869
|
|
|
NM_001167.4(XIAP):c.532C>T (p.His178Tyr)
|
|
|
|
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)
|
rs1602544454
|
|
|
NM_001167.4(XIAP):c.588C>T (p.Asp196=)
|
|
|
|
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter)
|
rs2053350325
|
|
|
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del)
|
rs2148089962
|
|
|
NM_001167.4(XIAP):c.60del (p.Glu21fs)
|
rs2148089318
|
|
|
NM_001167.4(XIAP):c.61G>A (p.Glu21Lys)
|
|
|
|
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)
|
rs2053350739
|
|
|
NM_001167.4(XIAP):c.643C>T (p.Arg215Cys)
|
|
|
|
NM_001167.4(XIAP):c.659A>G (p.His220Arg)
|
|
|
|
NM_001167.4(XIAP):c.660C>G (p.His220Gln)
|
|
|
|
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter)
|
rs1556404684
|
|
|
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
|
|
|
|
NM_001167.4(XIAP):c.666A>G (p.Arg222=)
|
|
|
|
NM_001167.4(XIAP):c.683T>C (p.Phe228Ser)
|
|
|
|
NM_001167.4(XIAP):c.693G>A (p.Leu231=)
|
|
|
|
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter)
|
rs111978474
|
|
|
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln)
|
rs1226148384
|
|
|
NM_001167.4(XIAP):c.722C>T (p.Ser241Phe)
|
|
|
|
NM_001167.4(XIAP):c.72A>G (p.Val24=)
|
rs1209504379
|
|
|
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe)
|
rs1602544652
|
|
|
NM_001167.4(XIAP):c.738T>C (p.Ser246=)
|
|
|
|
NM_001167.4(XIAP):c.744G>C (p.Arg248Ser)
|
|
|
|
NM_001167.4(XIAP):c.746A>G (p.Asn249Ser)
|
|
|
|
NM_001167.4(XIAP):c.755dup (p.Asn252fs)
|
rs2148090158
|
|
|
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser)
|
rs1602544717
|
|
|
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)
|
rs2148090201
|
|
|
NM_001167.4(XIAP):c.802C>T (p.Arg268Trp)
|
rs2148090224
|
|
|
NM_001167.4(XIAP):c.804G>A (p.Arg268=)
|
|
|
|
NM_001167.4(XIAP):c.805A>C (p.Ile269Leu)
|
rs2148090233
|
|
|
NM_001167.4(XIAP):c.807C>G (p.Ile269Met)
|
|
|
|
NM_001167.4(XIAP):c.819G>A (p.Gly273=)
|
rs2148090248
|
|
|
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)
|
rs2053353262
|
|
|
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)
|
rs777303823
|
|
|
NM_001167.4(XIAP):c.877+8_877+9del
|
rs1355498168
|
|
|
NM_001167.4(XIAP):c.878-5C>G
|
rs367801081
|
|
|
NM_001167.4(XIAP):c.878-5C>T
|
rs367801081
|
|
|
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly)
|
rs2148092754
|
|
|
NM_001167.4(XIAP):c.894_898del (p.Lys299fs)
|
rs2148092759
|
|
|
NM_001167.4(XIAP):c.921_924del (p.Thr308fs)
|
rs2148092792
|
|
|
NM_001167.4(XIAP):c.934C>T (p.Pro312Ser)
|
|
|
|
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter)
|
rs1602546782
|
|
|
NM_001167.4(XIAP):c.965A>G (p.Lys322Arg)
|
|
|
|
NM_001167.4(XIAP):c.977+3A>G
|
rs2053376412
|
|
|
NM_001167.4(XIAP):c.977+4A>G
|
|
|
|
NM_001167.4(XIAP):c.978-10_978-4del
|
rs1602549230
|
|
|
NM_001167.4(XIAP):c.978-2A>G
|
rs2148096152
|
|
|
NM_001167.4(XIAP):c.978-6G>A
|
|
|
|
NM_001167.4(XIAP):c.978-9A>G
|
rs1602549234
|
|
|
NM_001167.4(XIAP):c.979T>A (p.Cys327Ser)
|
|
|
|
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)
|
|
|
|
NM_001184880.1(PCDH19):c.79_2616+17371del
|
|
|
|
NM_001184880.2(PCDH19):c.1000G>C (p.Val334Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1001_1007del (p.Val334fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1002C>T (p.Val334=)
|
rs945213958
|
|
|
NM_001184880.2(PCDH19):c.1004G>A (p.Ser335Asn)
|
rs796052810
|
|
|
NM_001184880.2(PCDH19):c.1012G>T (p.Asp338Tyr)
|
rs2147539946
|
|
|
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr)
|
rs796052839
|
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
|
NM_001184880.2(PCDH19):c.1022A>G (p.Asp341Gly)
|
rs2147539926
|
|
|
NM_001184880.2(PCDH19):c.1029G>T (p.Pro343=)
|
|
|
|
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1031C>T (p.Pro344Leu)
|
rs796052811
|
|
|
NM_001184880.2(PCDH19):c.1037T>C (p.Ile346Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.103G>C (p.Ala35Pro)
|
rs2147542686
|
|
|
NM_001184880.2(PCDH19):c.1041C>T (p.Asn347=)
|
rs1182490407
|
|
|
NM_001184880.2(PCDH19):c.1045C>T (p.Leu349=)
|
|
|
|
NM_001184880.2(PCDH19):c.1056C>T (p.Asn352=)
|
rs2147539781
|
|
|
NM_001184880.2(PCDH19):c.1059_1062del (p.Glu354fs)
|
rs796052828
|
|
|
NM_001184880.2(PCDH19):c.1069G>A (p.Glu357Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
|
|
|
|
NM_001184880.2(PCDH19):c.1080G>C (p.Glu360Asp)
|
rs2147539716
|
|
|
NM_001184880.2(PCDH19):c.1083C>T (p.Ser361=)
|
|
|
|
NM_001184880.2(PCDH19):c.1085C>T (p.Ala362Val)
|
rs776497186
|
|
|
NM_001184880.2(PCDH19):c.1090C>G (p.Pro364Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)
|
rs758946412
|
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
|
NM_001184880.2(PCDH19):c.1095C>T (p.Gly365=)
|
rs926688509
|
|
|
NM_001184880.2(PCDH19):c.1097A>G (p.Tyr366Cys)
|
rs1928409253
|
|
|
NM_001184880.2(PCDH19):c.1098C>G (p.Tyr366Ter)
|
rs1239794408
|
|
|
NM_001184880.2(PCDH19):c.1101G>A (p.Val367=)
|
|
|
|
NM_001184880.2(PCDH19):c.1104C>G (p.Ile368Met)
|
|
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
|
NM_001184880.2(PCDH19):c.1110G>A (p.Leu370=)
|
|
|
|
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
|
rs796052812
|
|
|
NM_001184880.2(PCDH19):c.1116G>A (p.Arg372=)
|
|
|
|
NM_001184880.2(PCDH19):c.1120T>A (p.Ser374Thr)
|
rs1928407939
|
|
|
NM_001184880.2(PCDH19):c.1120T>C (p.Ser374Pro)
|
rs1928407939
|
|
|
NM_001184880.2(PCDH19):c.1121_1122del (p.Val373_Ser374insTer)
|
rs1569315042
|
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
|
NM_001184880.2(PCDH19):c.1129G>A (p.Asp377Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1129G>C (p.Asp377His)
|
rs1928407149
|
|
|
NM_001184880.2(PCDH19):c.1130A>T (p.Asp377Val)
|
rs1555985306
|
|
|
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter)
|
rs1555985301
|
|
|
NM_001184880.2(PCDH19):c.1134_1137dup (p.Leu380fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1145del (p.Gly382fs)
|
rs1928406047
|
|
|
NM_001184880.2(PCDH19):c.1148G>A (p.Arg383His)
|
rs1569315006
|
|
|
NM_001184880.2(PCDH19):c.1151_1152dup (p.Gln385fs)
|
rs1928405402
|
|
|
NM_001184880.2(PCDH19):c.1155del (p.Gln385fs)
|
|
|
|
NM_001184880.2(PCDH19):c.115A>C (p.Ile39Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1164G>A (p.Leu388=)
|
|
|
|
NM_001184880.2(PCDH19):c.1165C>G (p.Leu389Val)
|
rs1928404497
|
|
|
NM_001184880.2(PCDH19):c.1165C>T (p.Leu389=)
|
|
|
|
NM_001184880.2(PCDH19):c.1172dup (p.Asn391fs)
|
rs1602636591
|
|
|
NM_001184880.2(PCDH19):c.1176G>T (p.Val392=)
|
rs1602636583
|
|
|
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1183C>A (p.Arg395=)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.1183C>T (p.Arg395Ter)
|
rs769967221
|
|
|
NM_001184880.2(PCDH19):c.1188G>T (p.Leu396=)
|
|
|
|
NM_001184880.2(PCDH19):c.1189C>T (p.Gln397Ter)
|
rs2147539395
|
|
|
NM_001184880.2(PCDH19):c.1191G>A (p.Gln397=)
|
|
|
|
NM_001184880.2(PCDH19):c.1192G>T (p.Glu398Ter)
|
rs2147539378
|
|
|
NM_001184880.2(PCDH19):c.1196_1197del (p.Glu398_Tyr399insTer)
|
|
|
|
NM_001184880.2(PCDH19):c.1197T>G (p.Tyr399Ter)
|
rs2147539361
|
|
|
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile)
|
rs2147539327
|
|
|
NM_001184880.2(PCDH19):c.1225G>C (p.Gly409Arg)
|
rs1928402131
|
|
|
NM_001184880.2(PCDH19):c.122A>G (p.Asn41Ser)
|
rs2147542647
|
|
|
NM_001184880.2(PCDH19):c.1232T>A (p.Leu411Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys)
|
rs796052813
|
|
|
NM_001184880.2(PCDH19):c.1250A>T (p.Asp417Val)
|
rs2147539257
|
|
|
NM_001184880.2(PCDH19):c.1252C>A (p.Gln418Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.1252C>G (p.Gln418Glu)
|
|
|
|
NM_001184880.2(PCDH19):c.1252C>T (p.Gln418Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1256_1268del (p.Tyr419fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1263C>T (p.Leu421=)
|
|
|
|
NM_001184880.2(PCDH19):c.1265_1266del (p.Thr422fs)
|
rs886043572
|
|
|
NM_001184880.2(PCDH19):c.1276C>T (p.Arg426Cys)
|
rs1928399359
|
|
|
NM_001184880.2(PCDH19):c.1279G>A (p.Asp427Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1281C>G (p.Asp427Glu)
|
rs1555985244
|
|
|
NM_001184880.2(PCDH19):c.1284C>A (p.Gly428=)
|
|
|
|
NM_001184880.2(PCDH19):c.1292C>G (p.Pro431Arg)
|
rs1569314874
|
|
|
NM_001184880.2(PCDH19):c.1297C>A (p.Leu433Met)
|
rs764650219
|
|
|
NM_001184880.2(PCDH19):c.12C>T (p.Leu4=)
|
rs1272402084
|
|
|
NM_001184880.2(PCDH19):c.1300C>T (p.Gln434Ter)
|
rs1928398128
|
|
|
NM_001184880.2(PCDH19):c.1313C>A (p.Ser438Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.1319C>T (p.Thr440Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.1321G>T (p.Val441Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
|
rs1602638463
|
|
|
NM_001184880.2(PCDH19):c.1335C>G (p.Asp445Glu)
|
rs796052815
|
|
|
NM_001184880.2(PCDH19):c.1339A>G (p.Asn447Asp)
|
rs2147539047
|
|
|
NM_001184880.2(PCDH19):c.1342G>A (p.Asp448Asn)
|
rs1569314809
|
|
|
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr)
|
rs1569314809
|
|
|
NM_001184880.2(PCDH19):c.1347C>T (p.Asn449=)
|
|
|
|
NM_001184880.2(PCDH19):c.1349A>C (p.His450Pro)
|
rs2147539030
|
|
|
NM_001184880.2(PCDH19):c.1349_1355del (p.His450fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1352C>T (p.Pro451Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1353G>T (p.Pro451=)
|
rs373795773
|
|
|
NM_001184880.2(PCDH19):c.1353del (p.His452fs)
|
rs2147539018
|
|
|
NM_001184880.2(PCDH19):c.1360_1361delinsAA (p.Ser454Asn)
|
rs2147538982
|
|
|
NM_001184880.2(PCDH19):c.1364A>G (p.Lys455Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1366C>T (p.Pro456Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1371C>T (p.Tyr457=)
|
|
|
|
NM_001184880.2(PCDH19):c.1372T>A (p.Tyr458Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1372dup (p.Tyr458fs)
|
rs2147538939
|
|
|
NM_001184880.2(PCDH19):c.1373A>G (p.Tyr458Cys)
|
rs1928392499
|
|
|
NM_001184880.2(PCDH19):c.1375C>T (p.Gln459Ter)
|
rs2147538918
|
|
|
NM_001184880.2(PCDH19):c.1375del (p.Gln459fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1376_1377insATGTTGAG (p.Gln459_Val460insCysTer)
|
rs2147538910
|
|
|
NM_001184880.2(PCDH19):c.1390G>C (p.Glu464Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.13C>T (p.Leu5=)
|
|
|
|
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=)
|
rs794726896
|
|
|
NM_001184880.2(PCDH19):c.1407C>A (p.Gly469=)
|
rs1060504502
|
|
|
NM_001184880.2(PCDH19):c.140G>T (p.Arg47Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1410del (p.Tyr471fs)
|
rs1928388987
|
|
|
NM_001184880.2(PCDH19):c.1412A>G (p.Tyr471Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.1416_1420del (p.Leu473fs)
|
rs2147538807
|
|
|
NM_001184880.2(PCDH19):c.1419_1422del (p.Ser474fs)
|
rs1085307873
|
|
|
NM_001184880.2(PCDH19):c.1421_1422del (p.Ser474fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1425_1426del (p.Ser476fs)
|
rs2147538796
|
|
|
NM_001184880.2(PCDH19):c.1427C>T (p.Ser476Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.1430C>A (p.Ala477Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.1430C>T (p.Ala477Val)
|
|
|
|
NM_001184880.2(PCDH19):c.1432C>T (p.Arg478Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.1438C>T (p.Pro480Ser)
|
rs201320371
|
|
|
NM_001184880.2(PCDH19):c.1440C>T (p.Pro480=)
|
rs1928386353
|
|
|
NM_001184880.2(PCDH19):c.1440del (p.Asp481fs)
|
rs2147538759
|
|
|
NM_001184880.2(PCDH19):c.1442_1448del (p.Asp481fs)
|
rs1555985163
|
|
|
NM_001184880.2(PCDH19):c.1443C>G (p.Asp481Glu)
|
rs1602636091
|
|
|
NM_001184880.2(PCDH19):c.1443C>T (p.Asp481=)
|
rs1602636091
|
|
|
NM_001184880.2(PCDH19):c.1444C>G (p.Leu482Val)
|
|
|
|
NM_001184880.2(PCDH19):c.1446G>T (p.Leu482=)
|
|
|
|
NM_001184880.2(PCDH19):c.1455C>T (p.Asn485=)
|
rs2147538708
|
|
|
NM_001184880.2(PCDH19):c.1456G>C (p.Gly486Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1458C>T (p.Gly486=)
|
rs1602636047
|
|
|
NM_001184880.2(PCDH19):c.145G>A (p.Ala49Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.1461del (p.Ser487fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)
|
rs1555985142
|
|
|
NM_001184880.2(PCDH19):c.1478T>A (p.Val493Glu)
|
rs1060502177
|
|
|
NM_001184880.2(PCDH19):c.1479_1483del (p.Pro494fs)
|
rs1928383528
|
|
|
NM_001184880.2(PCDH19):c.1481C>G (p.Pro494Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1481C>T (p.Pro494Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1483T>C (p.Ser495Pro)
|
rs2147538640
|
|
|
NM_001184880.2(PCDH19):c.1485G>T (p.Ser495=)
|
|
|
|
NM_001184880.2(PCDH19):c.1488G>C (p.Gln496His)
|
rs2147538625
|
|
|
NM_001184880.2(PCDH19):c.1500del (p.Met500fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1500dup (p.Pro501fs)
|
rs2147538605
|
|
|
NM_001184880.2(PCDH19):c.150dup (p.Phe51fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1512C>T (p.Thr504=)
|
|
|
|
NM_001184880.2(PCDH19):c.1514A>G (p.Tyr505Cys)
|
rs1928382143
|
|
|
NM_001184880.2(PCDH19):c.1518C>A (p.Val506=)
|
|
|
|
NM_001184880.2(PCDH19):c.1521dup (p.Ile508fs)
|
rs1131691646
|
|
|
NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser)
|
rs1928381502
|
|
|
NM_001184880.2(PCDH19):c.1536A>T (p.Ser512=)
|
|
|
|
NM_001184880.2(PCDH19):c.1538G>A (p.Gly513Asp)
|
rs1928380918
|
|
|
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val)
|
rs1928380918
|
|
|
NM_001184880.2(PCDH19):c.1538del (p.Gly513fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1548C>A (p.Tyr516Ter)
|
rs587784295
|
|
|
NM_001184880.2(PCDH19):c.154G>C (p.Ala52Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.1555C>T (p.Arg519Ter)
|
rs1555985105
|
|
|
NM_001184880.2(PCDH19):c.155C>T (p.Ala52Val)
|
rs2147542586
|
|
|
NM_001184880.2(PCDH19):c.1568A>C (p.His523Pro)
|
rs1928379105
|
|
|
NM_001184880.2(PCDH19):c.1569C>A (p.His523Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.1579_2057delinsTCTCTGC (p.Lys527fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1581G>A (p.Lys527=)
|
|
|
|
NM_001184880.2(PCDH19):c.1581G>C (p.Lys527Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1601T>C (p.Leu534Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.1611C>A (p.Asp537Glu)
|
rs766582540
|
|
|
NM_001184880.2(PCDH19):c.1613G>A (p.Gly538Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe)
|
rs374593325
|
|
|
NM_001184880.2(PCDH19):c.1620T>C (p.Leu540=)
|
|
|
|
NM_001184880.2(PCDH19):c.1628T>C (p.Leu543Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
|
rs1928375454
|
|
|
NM_001184880.2(PCDH19):c.1639_1640delinsTT (p.Ala547Phe)
|
rs1928375319
|
|
|
NM_001184880.2(PCDH19):c.163C>T (p.Pro55Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1640delinsTA (p.Ala547fs)
|
rs1928375176
|
|
|
NM_001184880.2(PCDH19):c.1641T>C (p.Ala547=)
|
rs2147538281
|
|
|
NM_001184880.2(PCDH19):c.1643C>T (p.Thr548Met)
|
rs761718877
|
|
|
NM_001184880.2(PCDH19):c.1644G>C (p.Thr548=)
|
|
|
|
NM_001184880.2(PCDH19):c.1645dup (p.Val549fs)
|
rs1928374520
|
|
|
NM_001184880.2(PCDH19):c.164C>G (p.Pro55Arg)
|
rs1928476240
|
|
|
NM_001184880.2(PCDH19):c.1652T>A (p.Val551Asp)
|
rs1928373723
|
|
|
NM_001184880.2(PCDH19):c.1652T>C (p.Val551Ala)
|
rs1928373723
|
|
|
NM_001184880.2(PCDH19):c.1656C>T (p.Ile552=)
|
rs779051005
|
|
|
NM_001184880.2(PCDH19):c.1657_2616+3340del
|
|
|
|
NM_001184880.2(PCDH19):c.1659C>T (p.Ile553=)
|
|
|
|
NM_001184880.2(PCDH19):c.165C>G (p.Pro55=)
|
rs1002430549
|
|
|
NM_001184880.2(PCDH19):c.1660C>T (p.Leu554Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.1662C>G (p.Leu554=)
|
|
|
|
NM_001184880.2(PCDH19):c.166C>G (p.Arg56Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.1670A>G (p.Asn557Ser)
|
rs1928372472
|
|
|
NM_001184880.2(PCDH19):c.1671C>A (p.Asn557Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs)
|
rs2147538169
|
|
|
NM_001184880.2(PCDH19):c.1675A>G (p.Asn559Asp)
|
rs2147538146
|
|
|
NM_001184880.2(PCDH19):c.1676del (p.Asn559fs)
|
rs1569314475
|
|
|
NM_001184880.2(PCDH19):c.167G>A (p.Arg56Gln)
|
rs1928475827
|
|
|
NM_001184880.2(PCDH19):c.1681C>G (p.Pro561Ala)
|
rs1569314471
|
|
|
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser)
|
rs1569314471
|
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
|
NM_001184880.2(PCDH19):c.1682C>T (p.Pro561Leu)
|
rs796052819
|
|
|
NM_001184880.2(PCDH19):c.1693G>A (p.Ala565Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.1696C>G (p.Pro566Ala)
|
rs1928370474
|
|
|
NM_001184880.2(PCDH19):c.1696C>T (p.Pro566Ser)
|
rs1928370474
|
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
|
NM_001184880.2(PCDH19):c.1702C>T (p.Leu568=)
|
|
|
|
NM_001184880.2(PCDH19):c.1707dup (p.Asn570Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1710C>T (p.Asn570=)
|
|
|
|
NM_001184880.2(PCDH19):c.1715del (p.Thr572fs)
|
|
|
|
NM_001184880.2(PCDH19):c.1716T>A (p.Thr572=)
|
|
|
|
NM_001184880.2(PCDH19):c.1718C>G (p.Ala573Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>G (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1719C>T (p.Ala573=)
|
|
|
|
NM_001184880.2(PCDH19):c.1722G>A (p.Glu574=)
|
rs767824461
|
|
|
NM_001184880.2(PCDH19):c.1727A>G (p.Tyr576Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.1732C>T (p.Pro578Ser)
|
rs951696281
|
|
|
NM_001184880.2(PCDH19):c.1737C>A (p.Arg579=)
|
|
|
|
NM_001184880.2(PCDH19):c.1755C>G (p.Tyr585Ter)
|
rs749662385
|
|
|
NM_001184880.2(PCDH19):c.1765_1766del (p.Val589fs)
|
rs2147537854
|
|
|
NM_001184880.2(PCDH19):c.1776A>T (p.Ala592=)
|
rs2147537845
|
|
|
NM_001184880.2(PCDH19):c.177A>C (p.Ser59=)
|
rs1466130318
|
|
|
NM_001184880.2(PCDH19):c.1785C>T (p.Tyr595=)
|
|
|
|
NM_001184880.2(PCDH19):c.1786G>A (p.Asp596Asn)
|
rs1928365978
|
|
|
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr)
|
rs1928365978
|
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
|
NM_001184880.2(PCDH19):c.1803C>T (p.Gly601=)
|
|
|
|
NM_001184880.2(PCDH19):c.1804C>A (p.Arg602=)
|
|
|
|
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
|
rs1928365677
|
|
|
NM_001184880.2(PCDH19):c.1808_1816del (p.Val603_Tyr605del)
|
rs1928365074
|
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
|
NM_001184880.2(PCDH19):c.1815C>T (p.Tyr605=)
|
rs1057521256
|
|
|
NM_001184880.2(PCDH19):c.1816G>A (p.Asp606Asn)
|
rs1928364873
|
|
|
NM_001184880.2(PCDH19):c.1816G>T (p.Asp606Tyr)
|
rs1928364873
|
|
|
NM_001184880.2(PCDH19):c.1817A>G (p.Asp606Gly)
|
rs2147537779
|
|
|
NM_001184880.2(PCDH19):c.1823C>T (p.Thr608Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.1836C>T (p.Arg612=)
|
rs756311067
|
|
|
NM_001184880.2(PCDH19):c.1853_1857delinsCGAAGTCAGAA (p.Asp618_Gln619delinsAlaLysSerGlu)
|
rs1569314297
|
|
|
NM_001184880.2(PCDH19):c.1854C>G (p.Asp618Glu)
|
rs1569314304
|
|
|
NM_001184880.2(PCDH19):c.1855C>T (p.Gln619Ter)
|
rs796052820
|
|
|
NM_001184880.2(PCDH19):c.1862A>G (p.Asn621Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1865G>T (p.Gly622Val)
|
rs1928362026
|
|
|
NM_001184880.2(PCDH19):c.1873A>G (p.Arg625Gly)
|
rs796052822
|
|
|
NM_001184880.2(PCDH19):c.1887C>T (p.Thr629=)
|
|
|
|
NM_001184880.2(PCDH19):c.1890C>T (p.Phe630=)
|
rs796052791
|
|
|
NM_001184880.2(PCDH19):c.1891G>C (p.Gly631Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp)
|
rs750599959
|
|
|
NM_001184880.2(PCDH19):c.1894G>T (p.Glu632Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.1901_1902insG (p.Lys635fs)
|
rs1928359639
|
|
|
NM_001184880.2(PCDH19):c.1904A>G (p.Lys635Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1917G>A (p.Glu639=)
|
|
|
|
NM_001184880.2(PCDH19):c.1920T>G (p.Leu640=)
|
rs1602635297
|
|
|
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met)
|
rs1221643775
|
|
|
NM_001184880.2(PCDH19):c.1924G>T (p.Val642Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
|
|
|
|
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
|
|
|
|
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
|
|
|
|
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
|
|
|
|
NM_001184880.2(PCDH19):c.1974C>G (p.Val658=)
|
|
|
|
NM_001184880.2(PCDH19):c.1975C>T (p.Leu659=)
|
|
|
|
NM_001184880.2(PCDH19):c.197A>G (p.Asn66Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1985_1995del (p.Leu662fs)
|
rs2147537315
|
|
|
NM_001184880.2(PCDH19):c.1988C>T (p.Ser663Phe)
|
rs2147537323
|
|
|
NM_001184880.2(PCDH19):c.1992T>G (p.Pro664=)
|
|
|
|
NM_001184880.2(PCDH19):c.1993_1994delinsAA (p.Ala665Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.1995T>C (p.Ala665=)
|
|
|
|
NM_001184880.2(PCDH19):c.1996C>G (p.Leu666Val)
|
rs2147537309
|
|
|
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2023G>A (p.Val675Met)
|
|
|
|
NM_001184880.2(PCDH19):c.2025G>A (p.Val675=)
|
rs2147537254
|
|
|
NM_001184880.2(PCDH19):c.2029T>C (p.Leu677=)
|
rs2147537247
|
|
|
NM_001184880.2(PCDH19):c.202G>A (p.Ala68Thr)
|
rs1064797379
|
|
|
NM_001184880.2(PCDH19):c.2030T>C (p.Leu677Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2037G>A (p.Leu679=)
|
rs1060504503
|
|
|
NM_001184880.2(PCDH19):c.203C>T (p.Ala68Val)
|
rs1928473737
|
|
|
NM_001184880.2(PCDH19):c.2052C>G (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2052C>T (p.Ala684=)
|
rs1555984966
|
|
|
NM_001184880.2(PCDH19):c.2063T>C (p.Ile688Thr)
|
rs2147537200
|
|
|
NM_001184880.2(PCDH19):c.2068G>C (p.Gly690Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.2069del (p.Gly690fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2082A>T (p.Val694=)
|
|
|
|
NM_001184880.2(PCDH19):c.210C>T (p.His70=)
|
|
|
|
NM_001184880.2(PCDH19):c.2113C>T (p.Arg705Ter)
|
rs1928350631
|
|
|
NM_001184880.2(PCDH19):c.211C>A (p.Leu71Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2136C>T (p.Thr712=)
|
rs950694232
|
|
|
NM_001184880.2(PCDH19):c.2139C>A (p.Tyr713Ter)
|
rs1928349391
|
|
|
NM_001184880.2(PCDH19):c.2147+12T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2147+1G>T
|
rs1555984947
|
|
|
NM_001184880.2(PCDH19):c.2148-8C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2175C>T (p.Leu725=)
|
rs777049971
|
|
|
NM_001184880.2(PCDH19):c.2181T>C (p.Cys727=)
|
rs2147534431
|
|
|
NM_001184880.2(PCDH19):c.2187A>G (p.Ile729Met)
|
rs1928262563
|
|
|
NM_001184880.2(PCDH19):c.2195A>G (p.Gln732Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.21G>C (p.Pro7=)
|
rs1345525424
|
|
|
NM_001184880.2(PCDH19):c.2202C>T (p.Ser734=)
|
|
|
|
NM_001184880.2(PCDH19):c.2213A>T (p.His738Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.2222C>G (p.Ser741Trp)
|
|
|
|
NM_001184880.2(PCDH19):c.2222C>T (p.Ser741Leu)
|
rs1335592289
|
|
|
NM_001184880.2(PCDH19):c.2230C>T (p.Pro744Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2239G>A (p.Glu747Lys)
|
rs1407091251
|
|
|
NM_001184880.2(PCDH19):c.2255A>G (p.Lys752Arg)
|
rs1452944576
|
|
|
NM_001184880.2(PCDH19):c.2258C>A (p.Thr753Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.2260G>A (p.Glu754Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.2263G>T (p.Glu755Ter)
|
rs2147534335
|
|
|
NM_001184880.2(PCDH19):c.2263_2288+1dup
|
rs779136255
|
|
|
NM_001184880.2(PCDH19):c.2266_2273del (p.Lys756fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2274C>A (p.Ser758Arg)
|
rs1928258437
|
|
|
NM_001184880.2(PCDH19):c.2277A>T (p.Leu759=)
|
rs2147534303
|
|
|
NM_001184880.2(PCDH19):c.2288+16C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2288+6A>G
|
rs948910239
|
|
|
NM_001184880.2(PCDH19):c.2288+9G>C
|
|
|
|
NM_001184880.2(PCDH19):c.2289-2A>G
|
rs1928233784
|
|
|
NM_001184880.2(PCDH19):c.2289-4A>G
|
rs2147533541
|
|
|
NM_001184880.2(PCDH19):c.2301C>T (p.Tyr767=)
|
rs1057524610
|
|
|
NM_001184880.2(PCDH19):c.2302T>C (p.Ser768Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.2308G>C (p.Gly770Arg)
|
rs1036691760
|
|
|
NM_001184880.2(PCDH19):c.2314C>T (p.Gln772Ter)
|
rs1471944316
|
|
|
NM_001184880.2(PCDH19):c.2316A>G (p.Gln772=)
|
|
|
|
NM_001184880.2(PCDH19):c.2319G>T (p.Lys773Asn)
|
rs765066118
|
|
|
NM_001184880.2(PCDH19):c.231C>T (p.Ser77=)
|
rs2147542388
|
|
|
NM_001184880.2(PCDH19):c.2331G>A (p.Lys777=)
|
|
|
|
NM_001184880.2(PCDH19):c.2338A>T (p.Lys780Ter)
|
rs2147533439
|
|
|
NM_001184880.2(PCDH19):c.2339A>T (p.Lys780Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)
|
rs1060502175
|
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
|
NM_001184880.2(PCDH19):c.2344_2351dup (p.Asn784fs)
|
|
|
|
NM_001184880.2(PCDH19):c.234T>C (p.Ser78=)
|
|
|
|
NM_001184880.2(PCDH19):c.2355C>T (p.Asp785=)
|
|
|
|
NM_001184880.2(PCDH19):c.2360G>A (p.Arg787His)
|
|
|
|
NM_001184880.2(PCDH19):c.2360G>T (p.Arg787Leu)
|
rs371839798
|
|
|
NM_001184880.2(PCDH19):c.2373G>T (p.Arg791=)
|
|
|
|
NM_001184880.2(PCDH19):c.2380GAG[1] (p.Glu795del)
|
|
|
|
NM_001184880.2(PCDH19):c.2381A>G (p.Glu794Gly)
|
rs1226080727
|
|
|
NM_001184880.2(PCDH19):c.2387C>T (p.Thr796Ile)
|
rs1928228798
|
|
|
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu)
|
rs2147533341
|
|
|
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
|
|
|
|
NM_001184880.2(PCDH19):c.2400C>T (p.Asn800=)
|
rs200756110
|
|
|
NM_001184880.2(PCDH19):c.2419C>T (p.Leu807=)
|
rs1555984464
|
|
|
NM_001184880.2(PCDH19):c.242T>G (p.Leu81Arg)
|
rs1569316056
|
|
|
NM_001184880.2(PCDH19):c.2431C>A (p.Leu811Ile)
|
rs2147533269
|
|
|
NM_001184880.2(PCDH19):c.2435A>G (p.Asn812Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.2445C>T (p.Asp815=)
|
rs1602632552
|
|
|
NM_001184880.2(PCDH19):c.2446T>C (p.Tyr816His)
|
|
|
|
NM_001184880.2(PCDH19):c.2448C>A (p.Tyr816Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2449dup (p.His817fs)
|
|
|
|
NM_001184880.2(PCDH19):c.244dup (p.Val82fs)
|
rs1928471120
|
|
|
NM_001184880.2(PCDH19):c.2452C>T (p.Gln818Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2453del (p.Gln818fs)
|
rs1555984453
|
|
|
NM_001184880.2(PCDH19):c.2467C>T (p.Leu823=)
|
|
|
|
NM_001184880.2(PCDH19):c.2470_2474dup (p.Cys825fs)
|
rs1928224021
|
|
|
NM_001184880.2(PCDH19):c.2476C>T (p.Arg826Cys)
|
rs914370738
|
|
|
NM_001184880.2(PCDH19):c.2479C>T (p.Arg827Cys)
|
rs773732791
|
|
|
NM_001184880.2(PCDH19):c.2487G>C (p.Glu829Asp)
|
rs1928222467
|
|
|
NM_001184880.2(PCDH19):c.2490C>G (p.Ser830Arg)
|
rs1602632480
|
|
|
NM_001184880.2(PCDH19):c.2499G>A (p.Leu833=)
|
rs2147533161
|
|
|
NM_001184880.2(PCDH19):c.249C>G (p.Thr83=)
|
|
|
|
NM_001184880.2(PCDH19):c.2500A>G (p.Asn834Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.2502T>C (p.Asn834=)
|
|
|
|
NM_001184880.2(PCDH19):c.2502del (p.Asn834fs)
|
rs2147533148
|
|
|
NM_001184880.2(PCDH19):c.2504T>C (p.Val835Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.2508G>A (p.Glu836=)
|
|
|
|
NM_001184880.2(PCDH19):c.2512del (p.Gln838fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2522G>T (p.Arg841Leu)
|
rs756818874
|
|
|
NM_001184880.2(PCDH19):c.252del (p.Lys84fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=)
|
rs2147533082
|
|
|
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
|
rs1928470713
|
|
|
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs)
|
rs1928217378
|
|
|
NM_001184880.2(PCDH19):c.2558del (p.Phe853fs)
|
rs2147533042
|
|
|
NM_001184880.2(PCDH19):c.2559C>G (p.Phe853Leu)
|
rs924686008
|
|
|
NM_001184880.2(PCDH19):c.256A>T (p.Lys86Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2571G>A (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2571G>T (p.Gly857=)
|
rs1480768621
|
|
|
NM_001184880.2(PCDH19):c.2575C>T (p.Gln859Ter)
|
rs2147532974
|
|
|
NM_001184880.2(PCDH19):c.2578C>G (p.Gln860Glu)
|
|
|
|
NM_001184880.2(PCDH19):c.2580G>T (p.Gln860His)
|
rs2147532962
|
|
|
NM_001184880.2(PCDH19):c.2581_2582delinsG (p.Pro861fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2592dup (p.Ile865fs)
|
|
|
|
NM_001184880.2(PCDH19):c.25CTG[5] (p.Leu12_Ala13insLeu)
|
|
|
|
NM_001184880.2(PCDH19):c.2606C>T (p.Pro869Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.2616+1G>A
|
rs1602632270
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>A
|
|
|
|
NM_001184880.2(PCDH19):c.2617-19T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2617-1G>A
|
rs1602600561
|
|
|
NM_001184880.2(PCDH19):c.2619del (p.Glu874fs)
|
rs2147492697
|
|
|
NM_001184880.2(PCDH19):c.2646C>A (p.Tyr882Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2646C>G (p.Tyr882Ter)
|
rs770935301
|
|
|
NM_001184880.2(PCDH19):c.2646C>T (p.Tyr882=)
|
|
|
|
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
|
rs756414485
|
|
|
NM_001184880.2(PCDH19):c.2659G>A (p.Ala887Thr)
|
rs747735300
|
|
|
NM_001184880.2(PCDH19):c.2662dup (p.His888fs)
|
rs2147492627
|
|
|
NM_001184880.2(PCDH19):c.2671A>C (p.Lys891Gln)
|
rs1602600456
|
|
|
NM_001184880.2(PCDH19):c.2675+1G>T
|
|
|
|
NM_001184880.2(PCDH19):c.2675+2T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2675+7T>C
|
rs1926541351
|
|
|
NM_001184880.2(PCDH19):c.2675G>A (p.Ser892Asn)
|
rs1602600445
|
|
|
NM_001184880.2(PCDH19):c.2676-11C>T
|
|
|
|
NM_001184880.2(PCDH19):c.2676-17T>C
|
|
|
|
NM_001184880.2(PCDH19):c.2676-6A>G
|
rs1602595136
|
|
|
NM_001184880.2(PCDH19):c.2676-8C>A
|
rs1174620986
|
|
|
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)
|
rs1555985780
|
|
|
NM_001184880.2(PCDH19):c.2694C>T (p.Asp898=)
|
rs754570811
|
|
|
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly)
|
rs2147542320
|
|
|
NM_001184880.2(PCDH19):c.2726A>G (p.His909Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)
|
rs2147485081
|
|
|
NM_001184880.2(PCDH19):c.2730G>C (p.Glu910Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.2754G>T (p.Glu918Asp)
|
rs1926264482
|
|
|
NM_001184880.2(PCDH19):c.2761G>A (p.Val921Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.2764C>T (p.Gln922Ter)
|
rs2147485040
|
|
|
NM_001184880.2(PCDH19):c.2766G>A (p.Gln922=)
|
|
|
|
NM_001184880.2(PCDH19):c.2768G>A (p.Arg923Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2795A>G (p.Asn932Ser)
|
rs1926262402
|
|
|
NM_001184880.2(PCDH19):c.2823C>T (p.Ser941=)
|
|
|
|
NM_001184880.2(PCDH19):c.2825T>C (p.Met942Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.2833C>T (p.Gln945Ter)
|
rs2147484924
|
|
|
NM_001184880.2(PCDH19):c.2836A>G (p.Met946Val)
|
rs1064793304
|
|
|
NM_001184880.2(PCDH19):c.2837T>C (p.Met946Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.2846A>C (p.His949Pro)
|
rs1200510047
|
|
|
NM_001184880.2(PCDH19):c.2848+1G>A
|
|
|
|
NM_001184880.2(PCDH19):c.2848+7A>G
|
|
|
|
NM_001184880.2(PCDH19):c.2885G>A (p.Arg962Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2901dup (p.Asp968Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.290C>T (p.Pro97Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.291dup (p.Lys98fs)
|
rs2147542264
|
|
|
NM_001184880.2(PCDH19):c.2921G>A (p.Arg974Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2929A>G (p.Met977Val)
|
rs2147446474
|
|
|
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.2977del (p.Leu993fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2979G>C (p.Leu993=)
|
|
|
|
NM_001184880.2(PCDH19):c.2983A>G (p.Ile995Val)
|
rs1413490920
|
|
|
NM_001184880.2(PCDH19):c.298ATC[1] (p.Ile101del)
|
rs796052825
|
|
|
NM_001184880.2(PCDH19):c.3002A>G (p.Asp1001Gly)
|
rs1924624840
|
|
|
NM_001184880.2(PCDH19):c.3002A>T (p.Asp1001Val)
|
|
|
|
NM_001184880.2(PCDH19):c.300_301del (p.Ile101fs)
|
rs2147542217
|
|
|
NM_001184880.2(PCDH19):c.3011C>T (p.Ala1004Val)
|
rs1060502178
|
|
|
NM_001184880.2(PCDH19):c.3019G>A (p.Asp1007Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val)
|
rs779017688
|
|
|
NM_001184880.2(PCDH19):c.3020A>C (p.Asp1007Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.3021C>G (p.Asp1007Glu)
|
rs1569284419
|
|
|
NM_001184880.2(PCDH19):c.3025G>A (p.Gly1009Ser)
|
rs2147446230
|
|
|
NM_001184880.2(PCDH19):c.3028C>T (p.Pro1010Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.3037C>T (p.Arg1013Trp)
|
rs376406896
|
|
|
NM_001184880.2(PCDH19):c.3046G>A (p.Ala1016Thr)
|
rs1327141854
|
|
|
NM_001184880.2(PCDH19):c.3046G>T (p.Ala1016Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.3051C>T (p.Thr1017=)
|
rs1283188999
|
|
|
NM_001184880.2(PCDH19):c.3062A>G (p.Asp1021Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.3065T>C (p.Val1022Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.3066C>T (p.Val1022=)
|
|
|
|
NM_001184880.2(PCDH19):c.3070G>A (p.Asp1024Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.3073C>T (p.His1025Tyr)
|
rs2147446139
|
|
|
NM_001184880.2(PCDH19):c.3075C>T (p.His1025=)
|
|
|
|
NM_001184880.2(PCDH19):c.3087G>T (p.Glu1029Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.3096C>T (p.Thr1032=)
|
|
|
|
NM_001184880.2(PCDH19):c.309C>T (p.Leu103=)
|
|
|
|
NM_001184880.2(PCDH19):c.30G>A (p.Leu10=)
|
rs2147542972
|
|
|
NM_001184880.2(PCDH19):c.3103G>A (p.Gly1035Ser)
|
rs2147446085
|
|
|
NM_001184880.2(PCDH19):c.3105C>T (p.Gly1035=)
|
|
|
|
NM_001184880.2(PCDH19):c.3114T>C (p.Thr1038=)
|
rs2147446077
|
|
|
NM_001184880.2(PCDH19):c.3115G>A (p.Val1039Ile)
|
rs2147446072
|
|
|
NM_001184880.2(PCDH19):c.3118G>A (p.Asp1040Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe)
|
rs189342249
|
|
|
NM_001184880.2(PCDH19):c.3138C>T (p.Pro1046=)
|
rs2147446027
|
|
|
NM_001184880.2(PCDH19):c.315C>T (p.Val105=)
|
rs1555985739
|
|
|
NM_001184880.2(PCDH19):c.3174C>A (p.Gly1058=)
|
|
|
|
NM_001184880.2(PCDH19):c.3196del (p.Thr1066fs)
|
|
|
|
NM_001184880.2(PCDH19):c.31C>T (p.Leu11=)
|
rs775517393
|
|
|
NM_001184880.2(PCDH19):c.3200C>A (p.Ser1067Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.3204C>A (p.Pro1068=)
|
rs377415279
|
|
|
NM_001184880.2(PCDH19):c.3204C>G (p.Pro1068=)
|
|
|
|
NM_001184880.2(PCDH19):c.3204C>T (p.Pro1068=)
|
rs377415279
|
|
|
NM_001184880.2(PCDH19):c.3205C>A (p.Leu1069Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.3205C>T (p.Leu1069Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.3205del (p.Leu1069fs)
|
|
|
|
NM_001184880.2(PCDH19):c.3208C>G (p.His1070Asp)
|
rs2147445892
|
|
|
NM_001184880.2(PCDH19):c.3219C>T (p.Ser1073=)
|
|
|
|
NM_001184880.2(PCDH19):c.3221C>G (p.Ser1074Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.3240C>T (p.Ser1080=)
|
|
|
|
NM_001184880.2(PCDH19):c.3241G>C (p.Val1081Leu)
|
rs774791898
|
|
|
NM_001184880.2(PCDH19):c.3248del (p.Tyr1083fs)
|
rs1602566823
|
|
|
NM_001184880.2(PCDH19):c.3269C>A (p.Pro1090Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.3272C>T (p.Ala1091Val)
|
|
|
|
NM_001184880.2(PCDH19):c.3274C>T (p.Arg1092Cys)
|
rs745989871
|
|
|
NM_001184880.2(PCDH19):c.3286C>A (p.Gln1096Lys)
|
rs2147445718
|
|
|
NM_001184880.2(PCDH19):c.3293TCAACAATG[1] (p.1098VNN[1])
|
|
|
|
NM_001184880.2(PCDH19):c.3300T>C (p.Asn1100=)
|
|
|
|
NM_001184880.2(PCDH19):c.3308A>G (p.Asn1103Ser)
|
rs754499060
|
|
|
NM_001184880.2(PCDH19):c.330G>A (p.Met110Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.3324C>T (p.Pro1108=)
|
|
|
|
NM_001184880.2(PCDH19):c.3340C>A (p.Arg1114Ser)
|
rs763455091
|
|
|
NM_001184880.2(PCDH19):c.3341G>C (p.Arg1114Pro)
|
rs770137596
|
|
|
NM_001184880.2(PCDH19):c.3344G>T (p.Gly1115Val)
|
rs2147445596
|
|
|
NM_001184880.2(PCDH19):c.3353G>T (p.Ser1118Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.3354_3355insT (p.Glu1119Ter)
|
rs2147445563
|
|
|
NM_001184880.2(PCDH19):c.3356A>T (p.Glu1119Val)
|
|
|
|
NM_001184880.2(PCDH19):c.335T>G (p.Ile112Ser)
|
rs2147542128
|
|
|
NM_001184880.2(PCDH19):c.3361G>C (p.Val1121Leu)
|
rs1924601817
|
|
|
NM_001184880.2(PCDH19):c.3364A>C (p.Met1122Leu)
|
|
|
|
NM_001184880.2(PCDH19):c.336C>T (p.Ile112=)
|
|
|
|
NM_001184880.2(PCDH19):c.3370G>C (p.Glu1124Gln)
|
rs1569284025
|
|
|
NM_001184880.2(PCDH19):c.3384T>G (p.Ile1128Met)
|
rs1924600376
|
|
|
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
|
rs999749949
|
|
|
NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=)
|
rs1555972516
|
|
|
NM_001184880.2(PCDH19):c.3412C>T (p.Pro1138Ser)
|
rs778782448
|
|
|
NM_001184880.2(PCDH19):c.3415G>A (p.Gly1139Ser)
|
rs760947009
|
|
|
NM_001184880.2(PCDH19):c.3416G>A (p.Gly1139Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.3421A>G (p.Lys1141Glu)
|
rs1456843420
|
|
|
NM_001184880.2(PCDH19):c.3422A>G (p.Lys1141Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.3431_3436dup (p.Lys1144_Asp1145dup)
|
rs1924597346
|
|
|
NM_001184880.2(PCDH19):c.3436_3437dup (p.Val1147fs)
|
rs1924597176
|
|
|
NM_001184880.2(PCDH19):c.3438del (p.Ile1146fs)
|
rs764067138
|
|
|
NM_001184880.2(PCDH19):c.3439G>C (p.Val1147Leu)
|
rs138771033
|
|
|
NM_001184880.2(PCDH19):c.344T>A (p.Ile115Lys)
|
rs1928464417
|
|
|
NM_001184880.2(PCDH19):c.357del (p.Lys120fs)
|
|
|
|
NM_001184880.2(PCDH19):c.360G>C (p.Lys120Asn)
|
rs1214373921
|
|
|
NM_001184880.2(PCDH19):c.360G>T (p.Lys120Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.362A>C (p.Asp121Ala)
|
rs1928463633
|
|
|
NM_001184880.2(PCDH19):c.369C>A (p.Asn123Lys)
|
rs796052796
|
|
|
NM_001184880.2(PCDH19):c.369C>G (p.Asn123Lys)
|
rs796052796
|
|
|
NM_001184880.2(PCDH19):c.370G>C (p.Asp124His)
|
rs796052797
|
|
|
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala)
|
rs2147542056
|
|
|
NM_001184880.2(PCDH19):c.374A>G (p.Asn125Ser)
|
rs398123603
|
|
|
NM_001184880.2(PCDH19):c.378G>A (p.Ala126=)
|
|
|
|
NM_001184880.2(PCDH19):c.378_379dup (p.Pro127fs)
|
|
|
|
NM_001184880.2(PCDH19):c.379C>T (p.Pro127Ser)
|
rs1928462873
|
|
|
NM_001184880.2(PCDH19):c.37G>A (p.Ala13Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.380C>T (p.Pro127Leu)
|
rs2147542030
|
|
|
NM_001184880.2(PCDH19):c.384_394del (p.Phe129fs)
|
rs1928462092
|
|
|
NM_001184880.2(PCDH19):c.386T>C (p.Phe129Ser)
|
rs1602638047
|
|
|
NM_001184880.2(PCDH19):c.3G>A (p.Met1Ile)
|
rs2147543046
|
|
|
NM_001184880.2(PCDH19):c.402C>G (p.Ile134Met)
|
|
|
|
NM_001184880.2(PCDH19):c.403G>T (p.Glu135Ter)
|
rs759398718
|
|
|
NM_001184880.2(PCDH19):c.409G>T (p.Glu137Ter)
|
rs1555985689
|
|
|
NM_001184880.2(PCDH19):c.413T>A (p.Ile138Asn)
|
rs1602637994
|
|
|
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu)
|
rs1555985687
|
|
|
NM_001184880.2(PCDH19):c.418G>A (p.Glu140Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.418G>C (p.Glu140Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.419A>G (p.Glu140Gly)
|
rs1928460473
|
|
|
NM_001184880.2(PCDH19):c.437C>A (p.Thr146Lys)
|
rs796052799
|
|
|
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg)
|
rs796052799
|
|
|
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
|
|
|
|
NM_001184880.2(PCDH19):c.438G>A (p.Thr146=)
|
rs776584913
|
|
|
NM_001184880.2(PCDH19):c.439C>T (p.Arg147Cys)
|
|
|
|
NM_001184880.2(PCDH19):c.43C>A (p.Leu15Met)
|
|
|
|
NM_001184880.2(PCDH19):c.444C>G (p.Ile148Met)
|
rs770381945
|
|
|
NM_001184880.2(PCDH19):c.445C>T (p.Pro149Ser)
|
rs1928459143
|
|
|
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
|
NM_001184880.2(PCDH19):c.463G>C (p.Asp155His)
|
rs796052800
|
|
|
NM_001184880.2(PCDH19):c.471dup (p.Ser158fs)
|
rs1928457666
|
|
|
NM_001184880.2(PCDH19):c.474A>G (p.Ser158=)
|
|
|
|
NM_001184880.2(PCDH19):c.475G>A (p.Gly159Arg)
|
rs2147541809
|
|
|
NM_001184880.2(PCDH19):c.476del (p.Gly159fs)
|
rs1928457396
|
|
|
NM_001184880.2(PCDH19):c.478del (p.Ser160fs)
|
|
|
|
NM_001184880.2(PCDH19):c.487G>A (p.Val163Met)
|
|
|
|
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
|
rs1928454411
|
|
|
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
|
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)
|
rs2147541733
|
|
|
NM_001184880.2(PCDH19):c.506del (p.Thr169fs)
|
rs2147541704
|
|
|
NM_001184880.2(PCDH19):c.512dup (p.Asn171fs)
|
|
|
|
NM_001184880.2(PCDH19):c.514G>T (p.Glu172Ter)
|
rs1928454112
|
|
|
NM_001184880.2(PCDH19):c.515del (p.Glu172fs)
|
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
|
NM_001184880.2(PCDH19):c.529G>C (p.Glu177Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.52C>T (p.Gln18Ter)
|
rs2147542870
|
|
|
NM_001184880.2(PCDH19):c.533del (p.Ile178fs)
|
rs1928452385
|
|
|
NM_001184880.2(PCDH19):c.534C>G (p.Ile178Met)
|
|
|
|
NM_001184880.2(PCDH19):c.535A>T (p.Lys179Ter)
|
rs1602637774
|
|
|
NM_001184880.2(PCDH19):c.539C>A (p.Thr180Lys)
|
rs796052803
|
|
|
NM_001184880.2(PCDH19):c.53_62del (p.Gln18fs)
|
rs2147542837
|
|
|
NM_001184880.2(PCDH19):c.540G>T (p.Thr180=)
|
|
|
|
NM_001184880.2(PCDH19):c.543_544del (p.Gly182fs)
|
|
|
|
NM_001184880.2(PCDH19):c.554C>T (p.Ser185Phe)
|
|
|
|
NM_001184880.2(PCDH19):c.564del (p.Glu189fs)
|
rs1928449770
|
|
|
NM_001184880.2(PCDH19):c.567A>G (p.Glu189=)
|
|
|
|
NM_001184880.2(PCDH19):c.569T>C (p.Leu190Pro)
|
rs2147541432
|
|
|
NM_001184880.2(PCDH19):c.56C>T (p.Ala19Val)
|
rs1928482665
|
|
|
NM_001184880.2(PCDH19):c.570C>G (p.Leu190=)
|
|
|
|
NM_001184880.2(PCDH19):c.571G>A (p.Val191Met)
|
rs753757730
|
|
|
NM_001184880.2(PCDH19):c.573G>A (p.Val191=)
|
|
|
|
NM_001184880.2(PCDH19):c.574G>A (p.Val192Met)
|
|
|
|
NM_001184880.2(PCDH19):c.577G>T (p.Glu193Ter)
|
rs2147541401
|
|
|
NM_001184880.2(PCDH19):c.581del (p.Lys194fs)
|
rs1928448324
|
|
|
NM_001184880.2(PCDH19):c.58G>C (p.Ala20Pro)
|
rs1413763025
|
|
|
NM_001184880.2(PCDH19):c.590A>G (p.Asp197Gly)
|
rs2147541373
|
|
|
NM_001184880.2(PCDH19):c.591C>G (p.Asp197Glu)
|
rs374554305
|
|
|
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly)
|
rs2147541358
|
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
|
NM_001184880.2(PCDH19):c.594C>A (p.Arg198=)
|
|
|
|
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
|
|
|
|
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys)
|
rs2147541289
|
|
|
NM_001184880.2(PCDH19):c.606G>A (p.Ser202=)
|
|
|
|
NM_001184880.2(PCDH19):c.609C>G (p.His203Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.60C>T (p.Ala20=)
|
rs2147542847
|
|
|
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
|
|
|
|
NM_001184880.2(PCDH19):c.619del (p.Arg207fs)
|
rs1555985543
|
|
|
NM_001184880.2(PCDH19):c.623T>A (p.Ile208Asn)
|
rs796052804
|
|
|
NM_001184880.2(PCDH19):c.623_624delinsAA (p.Ile208Lys)
|
rs2147541189
|
|
|
NM_001184880.2(PCDH19):c.636C>G (p.Asp212Glu)
|
rs2147541121
|
|
|
NM_001184880.2(PCDH19):c.636C>T (p.Asp212=)
|
|
|
|
NM_001184880.2(PCDH19):c.638G>T (p.Gly213Val)
|
rs1928443396
|
|
|
NM_001184880.2(PCDH19):c.644A>T (p.Asp215Val)
|
rs935781189
|
|
|
NM_001184880.2(PCDH19):c.648G>A (p.Pro216=)
|
rs996601558
|
|
|
NM_001184880.2(PCDH19):c.653G>C (p.Arg218Pro)
|
rs1210258504
|
|
|
NM_001184880.2(PCDH19):c.659del (p.Gly220fs)
|
rs1928441222
|
|
|
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.667G>C (p.Gly223Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.670del (p.Ser225fs)
|
rs1602637452
|
|
|
NM_001184880.2(PCDH19):c.678C>T (p.Ile226=)
|
|
|
|
NM_001184880.2(PCDH19):c.679A>T (p.Lys227Ter)
|
rs1928440191
|
|
|
NM_001184880.2(PCDH19):c.681G>A (p.Lys227=)
|
|
|
|
NM_001184880.2(PCDH19):c.687C>T (p.Thr229=)
|
rs1380357181
|
|
|
NM_001184880.2(PCDH19):c.687del (p.Asp230fs)
|
rs1928439511
|
|
|
NM_001184880.2(PCDH19):c.688G>A (p.Asp230Asn)
|
rs1928439241
|
|
|
NM_001184880.2(PCDH19):c.691T>G (p.Ser231Ala)
|
rs1555985491
|
|
|
NM_001184880.2(PCDH19):c.696T>G (p.Asn232Lys)
|
rs796052807
|
|
|
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
|
rs1928438552
|
|
|
NM_001184880.2(PCDH19):c.700AAC[1] (p.Asn235del)
|
rs1928438102
|
|
|
NM_001184880.2(PCDH19):c.701A>C (p.Asn234Thr)
|
rs1555985475
|
|
|
NM_001184880.2(PCDH19):c.703A>T (p.Asn235Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.706C>T (p.Pro236Ser)
|
rs1928437614
|
|
|
NM_001184880.2(PCDH19):c.707C>G (p.Pro236Arg)
|
rs1060502176
|
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
|
NM_001184880.2(PCDH19):c.714del (p.Phe238fs)
|
rs2147540836
|
|
|
NM_001184880.2(PCDH19):c.724A>T (p.Thr242Ser)
|
rs1602637358
|
|
|
NM_001184880.2(PCDH19):c.729C>G (p.Tyr243Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.730G>A (p.Ala244Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.735G>A (p.Val245=)
|
|
|
|
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
|
rs1602637340
|
|
|
NM_001184880.2(PCDH19):c.746A>G (p.Glu249Gly)
|
rs2147540751
|
|
|
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp)
|
rs2147540748
|
|
|
NM_001184880.2(PCDH19):c.74T>C (p.Leu25Pro)
|
|
|
|
NM_001184880.2(PCDH19):c.752C>A (p.Ser251Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.754C>T (p.Pro252Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.758C>A (p.Pro253His)
|
|
|
|
NM_001184880.2(PCDH19):c.762C>A (p.Asn254Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.765A>G (p.Thr255=)
|
rs2147540684
|
|
|
NM_001184880.2(PCDH19):c.783C>T (p.Asn261=)
|
rs1928431100
|
|
|
NM_001184880.2(PCDH19):c.784G>T (p.Ala262Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.786del (p.Ser263fs)
|
|
|
|
NM_001184880.2(PCDH19):c.787A>C (p.Ser263Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
|
NM_001184880.2(PCDH19):c.792T>G (p.Asp264Glu)
|
rs373181586
|
|
|
NM_001184880.2(PCDH19):c.793C>T (p.Pro265Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.795A>T (p.Pro265=)
|
rs1602637247
|
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
|
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
|
rs1057524751
|
|
|
NM_001184880.2(PCDH19):c.799G>T (p.Glu267Ter)
|
rs1057524751
|
|
|
NM_001184880.2(PCDH19):c.79T>A (p.Tyr27Asn)
|
rs1928481376
|
|
|
NM_001184880.2(PCDH19):c.800_802del (p.Glu267del)
|
|
|
|
NM_001184880.2(PCDH19):c.804C>T (p.Gly268=)
|
|
|
|
NM_001184880.2(PCDH19):c.805del (p.Thr269fs)
|
rs796052827
|
|
|
NM_001184880.2(PCDH19):c.807_810dup (p.Gly271fs)
|
rs2147540522
|
|
|
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.810C>T (p.Asn270=)
|
rs2147540518
|
|
|
NM_001184880.2(PCDH19):c.811G>A (p.Gly271Ser)
|
rs1928427097
|
|
|
NM_001184880.2(PCDH19):c.812G>T (p.Gly271Val)
|
rs2147540502
|
|
|
NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter)
|
rs794726897
|
|
|
NM_001184880.2(PCDH19):c.816_817del (p.Gln272fs)
|
rs1928426655
|
|
|
NM_001184880.2(PCDH19):c.824A>G (p.Tyr275Cys)
|
rs1928426496
|
|
|
NM_001184880.2(PCDH19):c.826_827del (p.Ser276fs)
|
|
|
|
NM_001184880.2(PCDH19):c.827_829del (p.Ser276del)
|
rs1569315403
|
|
|
NM_001184880.2(PCDH19):c.82T>G (p.Ser28Ala)
|
|
|
|
NM_001184880.2(PCDH19):c.830_832del (p.Phe277del)
|
|
|
|
NM_001184880.2(PCDH19):c.831C>T (p.Phe277=)
|
|
|
|
NM_001184880.2(PCDH19):c.833del (p.Tyr278fs)
|
rs2147540431
|
|
|
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
|
|
|
|
NM_001184880.2(PCDH19):c.854C>A (p.Thr285Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.854C>T (p.Thr285Met)
|
|
|
|
NM_001184880.2(PCDH19):c.859G>T (p.Glu287Ter)
|
rs1555985427
|
|
|
NM_001184880.2(PCDH19):c.864C>G (p.Leu288=)
|
rs750350919
|
|
|
NM_001184880.2(PCDH19):c.870G>T (p.Gln290His)
|
|
|
|
NM_001184880.2(PCDH19):c.873C>A (p.Ile291=)
|
|
|
|
NM_001184880.2(PCDH19):c.875_879dup (p.His294fs)
|
rs1555985416
|
|
|
NM_001184880.2(PCDH19):c.879G>C (p.Pro293=)
|
|
|
|
NM_001184880.2(PCDH19):c.882C>T (p.His294=)
|
rs2147540267
|
|
|
NM_001184880.2(PCDH19):c.883_886dup (p.Gly296fs)
|
rs2147540245
|
|
|
NM_001184880.2(PCDH19):c.883del (p.Ser295fs)
|
rs2147540261
|
|
|
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)
|
rs1459520904
|
|
|
NM_001184880.2(PCDH19):c.88G>A (p.Glu30Lys)
|
rs931969825
|
|
|
NM_001184880.2(PCDH19):c.891G>A (p.Leu297=)
|
|
|
|
NM_001184880.2(PCDH19):c.899T>C (p.Val300Ala)
|
rs1555985398
|
|
|
NM_001184880.2(PCDH19):c.8C>A (p.Ser3Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.902C>T (p.Thr301Ile)
|
rs1928420254
|
|
|
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter)
|
rs1569315231
|
|
|
NM_001184880.2(PCDH19):c.91G>A (p.Glu31Lys)
|
rs796052794
|
|
|
NM_001184880.2(PCDH19):c.92_95dup (p.Gln33fs)
|
rs2147542719
|
|
|
NM_001184880.2(PCDH19):c.930C>T (p.His310=)
|
|
|
|
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
|
|
|
|
NM_001184880.2(PCDH19):c.949C>T (p.Gln317Ter)
|
rs2147540086
|
|
|
NM_001184880.2(PCDH19):c.957G>A (p.Lys319=)
|
|
|
|
NM_001184880.2(PCDH19):c.958G>A (p.Asp320Asn)
|
|
|
|
NM_001184880.2(PCDH19):c.958G>C (p.Asp320His)
|
rs1928416953
|
|
|
NM_001184880.2(PCDH19):c.959A>G (p.Asp320Gly)
|
|
|
|
NM_001184880.2(PCDH19):c.966G>A (p.Gly322=)
|
|
|
|
NM_001184880.2(PCDH19):c.967C>A (p.Pro323Thr)
|
rs2147540049
|
|
|
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser)
|
rs2147540049
|
|
|
NM_001184880.2(PCDH19):c.973_974del (p.Ser325fs)
|
|
|
|
NM_001184880.2(PCDH19):c.979C>T (p.Pro327Ser)
|
rs1928416253
|
|
|
NM_001184880.2(PCDH19):c.97C>T (p.Gln33Ter)
|
rs1928479952
|
|
|
NM_001184880.2(PCDH19):c.98_102del (p.Gln33fs)
|
|
|
|
NM_001184880.2(PCDH19):c.994G>A (p.Val332Ile)
|
|
|
|
NM_001184880.2(PCDH19):c.994del (p.Val332fs)
|
rs1569315156
|
|
|
NM_001184880.2(PCDH19):c.999del (p.Val334fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1009C>G (p.Gln337Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1020C>T (p.Gly340=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1022G>T (p.Arg341Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1025A>G (p.Asn342Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1029G>A (p.Gln343=)
|
rs2049510920
|
|
|
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp)
|
rs869312941
|
|
|
NM_001353921.2(ARHGEF9):c.1049T>G (p.Phe350Cys)
|
rs2147265726
|
|
|
NM_001353921.2(ARHGEF9):c.1056C>T (p.His352=)
|
rs370689173
|
|
|
NM_001353921.2(ARHGEF9):c.1077+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.1077+19T>G
|
rs2147265464
|
|
|
NM_001353921.2(ARHGEF9):c.1077+5C>T
|
rs2049507995
|
|
|
NM_001353921.2(ARHGEF9):c.1077+7C>G
|
rs2147265578
|
|
|
NM_001353921.2(ARHGEF9):c.1078-11_1078-8del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1078-18C>T
|
rs781901799
|
|
|
NM_001353921.2(ARHGEF9):c.1095C>T (p.Asp365=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)
|
rs2048831313
|
|
|
NM_001353921.2(ARHGEF9):c.1122C>T (p.Asp374=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1126_1128dup (p.Asp376dup)
|
rs2048830256
|
|
|
NM_001353921.2(ARHGEF9):c.1144G>A (p.Asp382Asn)
|
rs2048829340
|
|
|
NM_001353921.2(ARHGEF9):c.1149T>G (p.Ile383Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter)
|
rs2147218558
|
|
|
NM_001353921.2(ARHGEF9):c.1157G>A (p.Gly386Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1158C>A (p.Gly386=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>G (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.117C>T (p.Gly39=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1180A>C (p.Ser394Arg)
|
rs2048827604
|
|
|
NM_001353921.2(ARHGEF9):c.1193C>T (p.Ala398Val)
|
rs2048826532
|
|
|
NM_001353921.2(ARHGEF9):c.1203T>G (p.Leu401=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1206C>T (p.His402=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1208A>G (p.Asn403Ser)
|
rs2147218280
|
|
|
NM_001353921.2(ARHGEF9):c.1209C>G (p.Asn403Lys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.121G>A (p.Val41Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1233G>A (p.Leu411=)
|
rs2147218180
|
|
|
NM_001353921.2(ARHGEF9):c.1248G>T (p.Lys416Asn)
|
rs2048824581
|
|
|
NM_001353921.2(ARHGEF9):c.124A>G (p.Ile42Val)
|
rs2053845797
|
|
|
NM_001353921.2(ARHGEF9):c.1251G>A (p.Leu417=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.126C>T (p.Ile42=)
|
rs2147624145
|
|
|
NM_001353921.2(ARHGEF9):c.1294A>G (p.Lys432Glu)
|
rs1569441733
|
|
|
NM_001353921.2(ARHGEF9):c.1300G>T (p.Val434Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+16G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.1321+5G>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10T>C
|
rs2147143891
|
|
|
NM_001353921.2(ARHGEF9):c.1322-10del
|
|
|
|
NM_001353921.2(ARHGEF9):c.1322G>T (p.Gly441Val)
|
rs2147143865
|
|
|
NM_001353921.2(ARHGEF9):c.1326T>A (p.Phe442Leu)
|
rs2147143845
|
|
|
NM_001353921.2(ARHGEF9):c.1354G>C (p.Ala452Pro)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1362G>T (p.Met454Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1378C>T (p.Pro460Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1389A>G (p.Lys463=)
|
rs1602179094
|
|
|
NM_001353921.2(ARHGEF9):c.1390+13C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.1391-14C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.1397A>G (p.Asn466Ser)
|
rs2147114917
|
|
|
NM_001353921.2(ARHGEF9):c.13A>G (p.Arg5Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)
|
rs1556301404
|
|
|
NM_001353921.2(ARHGEF9):c.1406G>A (p.Arg469His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1417C>T (p.Pro473Ser)
|
rs2147114796
|
|
|
NM_001353921.2(ARHGEF9):c.1420T>C (p.Ser474Pro)
|
rs1556301359
|
|
|
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1435C>T (p.Gln479Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1442C>T (p.Pro481Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1443G>T (p.Pro481=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1448A>G (p.Asn483Ser)
|
rs2147114604
|
|
|
NM_001353921.2(ARHGEF9):c.1453G>A (p.Gly485Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.145A>G (p.Asn49Asp)
|
rs2053844904
|
|
|
NM_001353921.2(ARHGEF9):c.1470C>T (p.Pro490=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1473C>T (p.Asp491=)
|
rs374753195
|
|
|
NM_001353921.2(ARHGEF9):c.1492G>A (p.Val498Ile)
|
rs2147114206
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>C (p.Phe499=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1497T>G (p.Phe499Leu)
|
rs2147114173
|
|
|
NM_001353921.2(ARHGEF9):c.1500G>T (p.Glu500Asp)
|
rs2147114132
|
|
|
NM_001353921.2(ARHGEF9):c.1517G>A (p.Arg506His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1533C>G (p.Phe511Leu)
|
rs1556300785
|
|
|
NM_001353921.2(ARHGEF9):c.1536G>A (p.Trp512Ter)
|
rs1556300769
|
|
|
NM_001353921.2(ARHGEF9):c.1540A>C (p.Asn514His)
|
rs1556300759
|
|
|
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1551G>A (p.Arg517=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.1561T>C (p.Phe521Leu)
|
rs2047401810
|
|
|
NM_001353921.2(ARHGEF9):c.166C>A (p.Gln56Lys)
|
rs781823638
|
|
|
NM_001353921.2(ARHGEF9):c.172G>A (p.Asp58Asn)
|
|
|
|
NM_001353921.2(ARHGEF9):c.172G>C (p.Asp58His)
|
rs374489713
|
|
|
NM_001353921.2(ARHGEF9):c.174C>T (p.Asp58=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.198C>T (p.Ala66=)
|
rs1602577401
|
|
|
NM_001353921.2(ARHGEF9):c.1A>G (p.Met1Val)
|
rs2147835608
|
|
|
NM_001353921.2(ARHGEF9):c.211-13C>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.219G>A (p.Val73=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.227A>G (p.Glu76Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.234G>A (p.Glu78=)
|
rs868932053
|
|
|
NM_001353921.2(ARHGEF9):c.240G>T (p.Glu80Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.243G>A (p.Glu81=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.248C>A (p.Pro83His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.249C>T (p.Pro83=)
|
rs2147508633
|
|
|
NM_001353921.2(ARHGEF9):c.24G>C (p.Ser8=)
|
rs1413001108
|
|
|
NM_001353921.2(ARHGEF9):c.256G>A (p.Val86Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.256G>T (p.Val86Leu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.25G>C (p.Gly9Arg)
|
|
|
|
NM_001353921.2(ARHGEF9):c.270C>A (p.His90Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.271C>A (p.Leu91Met)
|
|
|
|
NM_001353921.2(ARHGEF9):c.281A>G (p.Asn94Ser)
|
rs886044863
|
|
|
NM_001353921.2(ARHGEF9):c.285A>G (p.Ser95=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.296G>C (p.Cys99Ser)
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+10T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+16C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.30+9A>C
|
rs2147835548
|
|
|
NM_001353921.2(ARHGEF9):c.304C>T (p.Arg102Trp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.308C>A (p.Pro103Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.309A>G (p.Pro103=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29577C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29579C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588A>G
|
rs2055839126
|
|
|
NM_001353921.2(ARHGEF9):c.31-29588_31-29587del
|
rs782126971
|
|
|
NM_001353921.2(ARHGEF9):c.31-5C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.31-6C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.313C>G (p.Gln105Glu)
|
rs2052542875
|
|
|
NM_001353921.2(ARHGEF9):c.31C>A (p.Leu11Met)
|
rs2053850779
|
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
|
NM_001353921.2(ARHGEF9):c.336C>T (p.Ala112=)
|
rs2147507989
|
|
|
NM_001353921.2(ARHGEF9):c.368G>A (p.Arg123His)
|
rs868956996
|
|
|
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+15T>C
|
rs2147507524
|
|
|
NM_001353921.2(ARHGEF9):c.402+20T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+8T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-12C>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-17T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.403-3C>T
|
rs1602447219
|
|
|
NM_001353921.2(ARHGEF9):c.411G>A (p.Leu137=)
|
rs2147451122
|
|
|
NM_001353921.2(ARHGEF9):c.414G>A (p.Lys138=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_001353921.2(ARHGEF9):c.438G>A (p.Met146Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.443G>A (p.Ser148Asn)
|
|
|
|
NM_001353921.2(ARHGEF9):c.476T>C (p.Ile159Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.488A>T (p.Tyr163Phe)
|
rs2051815541
|
|
|
NM_001353921.2(ARHGEF9):c.499A>G (p.Met167Val)
|
rs2147450532
|
|
|
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.544C>T (p.Pro182Ser)
|
rs2051812917
|
|
|
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)
|
rs1602446549
|
|
|
NM_001353921.2(ARHGEF9):c.564A>G (p.Gly188=)
|
rs782187939
|
|
|
NM_001353921.2(ARHGEF9):c.569G>A (p.Cys190Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.578A>G (p.Glu193Gly)
|
rs1556388997
|
|
|
NM_001353921.2(ARHGEF9):c.582+10T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+10_582+14del
|
rs1556388923
|
|
|
NM_001353921.2(ARHGEF9):c.582+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.582+1G>A
|
rs1569476483
|
|
|
NM_001353921.2(ARHGEF9):c.583-11dup
|
rs782366734
|
|
|
NM_001353921.2(ARHGEF9):c.583-13del
|
|
|
|
NM_001353921.2(ARHGEF9):c.583-17T>G
|
rs2147334936
|
|
|
NM_001353921.2(ARHGEF9):c.632C>T (p.Ala211Val)
|
rs2147334711
|
|
|
NM_001353921.2(ARHGEF9):c.643C>T (p.Leu215Phe)
|
|
|
|
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val)
|
rs2050412325
|
|
|
NM_001353921.2(ARHGEF9):c.660G>A (p.Lys220=)
|
rs2147334626
|
|
|
NM_001353921.2(ARHGEF9):c.66A>G (p.Ala22=)
|
rs2147624503
|
|
|
NM_001353921.2(ARHGEF9):c.688G>A (p.Ala230Thr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.694C>T (p.Arg232Cys)
|
rs2147334395
|
|
|
NM_001353921.2(ARHGEF9):c.703C>G (p.Gln235Glu)
|
rs2050408893
|
|
|
NM_001353921.2(ARHGEF9):c.727G>T (p.Asp243Tyr)
|
rs782266558
|
|
|
NM_001353921.2(ARHGEF9):c.735C>T (p.Phe245=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.747A>G (p.Pro249=)
|
rs369716500
|
|
|
NM_001353921.2(ARHGEF9):c.761G>A (p.Cys254Tyr)
|
|
|
|
NM_001353921.2(ARHGEF9):c.766T>C (p.Tyr256His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.775C>G (p.Gln259Glu)
|
|
|
|
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser)
|
rs782497496
|
|
|
NM_001353921.2(ARHGEF9):c.788T>C (p.Leu263Pro)
|
rs1602360899
|
|
|
NM_001353921.2(ARHGEF9):c.79G>A (p.Val27Ile)
|
|
|
|
NM_001353921.2(ARHGEF9):c.811C>T (p.His271Tyr)
|
rs2050403490
|
|
|
NM_001353921.2(ARHGEF9):c.815+10C>T
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+18T>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>C
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+5G>T
|
rs56239759
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>G
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.815+8A>T
|
rs1464003224
|
|
|
NM_001353921.2(ARHGEF9):c.816-10G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.816-12_816-11del
|
rs781845457
|
|
|
NM_001353921.2(ARHGEF9):c.816-9T>C
|
rs1057522347
|
|
|
NM_001353921.2(ARHGEF9):c.880C>T (p.Arg294Cys)
|
|
|
|
NM_001353921.2(ARHGEF9):c.886C>A (p.Arg296=)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter)
|
rs1135401795
|
|
|
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)
|
rs2050115619
|
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.915T>C (p.Ala305=)
|
rs782362648
|
|
|
NM_001353921.2(ARHGEF9):c.91A>G (p.Asn31Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)
|
rs1569458475
|
|
|
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter)
|
rs2147307979
|
|
|
NM_001353921.2(ARHGEF9):c.944A>C (p.Glu315Ala)
|
rs2147307964
|
|
|
NM_001353921.2(ARHGEF9):c.945+5G>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=)
|
rs2050112328
|
|
|
NM_001353921.2(ARHGEF9):c.946-13A>C
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-17T>A
|
|
|
|
NM_001353921.2(ARHGEF9):c.946-18A>G
|
|
|
|
NM_001353921.2(ARHGEF9):c.94C>G (p.Arg32Gly)
|
|
|
|
NM_001353921.2(ARHGEF9):c.961G>C (p.Asp321His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.968G>T (p.Ser323Ile)
|
rs1569451962
|
|
|
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)
|
rs2147266023
|
|
|
NM_001375834.1(WIPF1):c.1000C>T (p.Leu334Phe)
|
|
|
|
NM_001375834.1(WIPF1):c.1007A>G (p.Gln336Arg)
|
|
|
|
NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=)
|
|
|
|
NM_001375834.1(WIPF1):c.1034C>T (p.Thr345Met)
|
rs1684852145
|
|
|
NM_001375834.1(WIPF1):c.1043T>C (p.Leu348Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=)
|
|
|
|
NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=)
|
|
|
|
NM_001375834.1(WIPF1):c.1085G>A (p.Ser362Asn)
|
rs779795011
|
|
|
NM_001375834.1(WIPF1):c.1094C>T (p.Pro365Leu)
|
rs1225689201
|
|
|
NM_001375834.1(WIPF1):c.1100C>T (p.Pro367Leu)
|
rs1684847875
|
|
|
NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=)
|
|
|
|
NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=)
|
|
|
|
NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=)
|
rs1033892508
|
|
|
NM_001375834.1(WIPF1):c.1129+13G>A
|
|
|
|
NM_001375834.1(WIPF1):c.1129+16G>C
|
|
|
|
NM_001375834.1(WIPF1):c.1129+7C>G
|
rs1005877347
|
|
|
NM_001375834.1(WIPF1):c.1129+9A>G
|
rs1002688852
|
|
|
NM_001375834.1(WIPF1):c.1130-10T>C
|
|
|
|
NM_001375834.1(WIPF1):c.1130-4C>T
|
rs771873177
|
|
|
NM_001375834.1(WIPF1):c.1130-8dup
|
|
|
|
NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)
|
|
|
|
NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=)
|
|
|
|
NM_001375834.1(WIPF1):c.1133C>T (p.Pro378Leu)
|
rs770870596
|
|
|
NM_001375834.1(WIPF1):c.1141C>T (p.Pro381Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.116A>T (p.Asp39Val)
|
|
|
|
NM_001375834.1(WIPF1):c.1181C>T (p.Ala394Val)
|
|
|
|
NM_001375834.1(WIPF1):c.1196C>G (p.Pro399Arg)
|
rs1684716723
|
|
|
NM_001375834.1(WIPF1):c.1218A>T (p.Gly406=)
|
|
|
|
NM_001375834.1(WIPF1):c.1227T>C (p.Ser409=)
|
rs577852991
|
|
|
NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=)
|
rs1334845649
|
|
|
NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=)
|
|
|
|
NM_001375834.1(WIPF1):c.1252C>G (p.Leu418Val)
|
rs371993338
|
|
|
NM_001375834.1(WIPF1):c.1252C>T (p.Leu418Phe)
|
|
|
|
NM_001375834.1(WIPF1):c.1258C>T (p.Pro420Ser)
|
rs1684713583
|
|
|
NM_001375834.1(WIPF1):c.1263T>C (p.Asp421=)
|
|
|
|
NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)
|
|
|
|
NM_001375834.1(WIPF1):c.1271G>T (p.Ser424Ile)
|
|
|
|
NM_001375834.1(WIPF1):c.1283C>G (p.Pro428Arg)
|
|
|
|
NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=)
|
rs2105796945
|
|
|
NM_001375834.1(WIPF1):c.1303A>G (p.Thr435Ala)
|
rs2105796927
|
|
|
NM_001375834.1(WIPF1):c.1316A>G (p.Asn439Ser)
|
rs747335347
|
|
|
NM_001375834.1(WIPF1):c.1335A>C (p.Pro445=)
|
|
|
|
NM_001375834.1(WIPF1):c.1342+20C>T
|
rs77346261
|
|
|
NM_001375834.1(WIPF1):c.1343-14G>A
|
|
|
|
NM_001375834.1(WIPF1):c.1343-14G>C
|
|
|
|
NM_001375834.1(WIPF1):c.1343-20C>T
|
|
|
|
NM_001375834.1(WIPF1):c.1343-5C>T
|
|
|
|
NM_001375834.1(WIPF1):c.1361T>A (p.Phe454Tyr)
|
|
|
|
NM_001375834.1(WIPF1):c.1364A>G (p.Tyr455Cys)
|
|
|
|
NM_001375834.1(WIPF1):c.13C>T (p.Pro5Ser)
|
rs753073816
|
|
|
NM_001375834.1(WIPF1):c.1426C>A (p.Pro476Thr)
|
|
|
|
NM_001375834.1(WIPF1):c.1435C>G (p.Leu479Val)
|
|
|
|
NM_001375834.1(WIPF1):c.1441A>G (p.Arg481Gly)
|
rs1684685114
|
|
|
NM_001375834.1(WIPF1):c.1456+9T>C
|
|
|
|
NM_001375834.1(WIPF1):c.1457-13T>C
|
rs1265013243
|
|
|
NM_001375834.1(WIPF1):c.1457-14G>A
|
|
|
|
NM_001375834.1(WIPF1):c.1457G>A (p.Ser486Asn)
|
|
|
|
NM_001375834.1(WIPF1):c.16C>A (p.Pro6Thr)
|
rs200376655
|
|
|
NM_001375834.1(WIPF1):c.181+13dup
|
|
|
|
NM_001375834.1(WIPF1):c.181+7A>T
|
|
|
|
NM_001375834.1(WIPF1):c.181+9A>G
|
rs1476162237
|
|
|
NM_001375834.1(WIPF1):c.181A>C (p.Lys61Gln)
|
rs1685234520
|
|
|
NM_001375834.1(WIPF1):c.182-10T>C
|
rs1013513013
|
|
|
NM_001375834.1(WIPF1):c.182-14C>T
|
|
|
|
NM_001375834.1(WIPF1):c.182-20G>A
|
|
|
|
NM_001375834.1(WIPF1):c.182-8T>C
|
|
|
|
NM_001375834.1(WIPF1):c.19_20delinsAG (p.Pro7Arg)
|
rs1685388514
|
|
|
NM_001375834.1(WIPF1):c.209G>A (p.Gly70Asp)
|
|
|
|
NM_001375834.1(WIPF1):c.217_219dup (p.Gly73_Phe74insGly)
|
|
|
|
NM_001375834.1(WIPF1):c.231C>G (p.Gly77=)
|
rs772302114
|
|
|
NM_001375834.1(WIPF1):c.234C>T (p.Gly78=)
|
|
|
|
NM_001375834.1(WIPF1):c.235G>C (p.Gly79Arg)
|
rs531744802
|
|
|
NM_001375834.1(WIPF1):c.253G>T (p.Gly85Cys)
|
|
|
|
NM_001375834.1(WIPF1):c.255_269del (p.Gly86_Gly90del)
|
rs561738348
|
|
|
NM_001375834.1(WIPF1):c.265G>T (p.Gly89Cys)
|
|
|
|
NM_001375834.1(WIPF1):c.267_287dup (p.Gly90_Gly96dup)
|
rs760752697
|
|
|
NM_001375834.1(WIPF1):c.271A>C (p.Ser91Arg)
|
|
|
|
NM_001375834.1(WIPF1):c.279A>C (p.Gly93=)
|
|
|
|
NM_001375834.1(WIPF1):c.279A>G (p.Gly93=)
|
|
|
|
NM_001375834.1(WIPF1):c.285C>T (p.Gly95=)
|
|
|
|
NM_001375834.1(WIPF1):c.30G>C (p.Pro10=)
|
rs745425874
|
|
|
NM_001375834.1(WIPF1):c.320G>C (p.Gly107Ala)
|
rs773373271
|
|
|
NM_001375834.1(WIPF1):c.326C>T (p.Pro109Leu)
|
|
|
|
NM_001375834.1(WIPF1):c.34C>A (p.Pro12Thr)
|
|
|
|
NM_001375834.1(WIPF1):c.358+19T>C
|
|
|
|
NM_001375834.1(WIPF1):c.359-19T>C
|
|
|
|
NM_001375834.1(WIPF1):c.374G>A (p.Arg125Gln)
|
|
|
|
NM_001375834.1(WIPF1):c.392C>T (p.Pro131Leu)
|
rs1435025827
|
|
|
NM_001375834.1(WIPF1):c.401G>A (p.Arg134Lys)
|
rs1006829187
|
|
|
NM_001375834.1(WIPF1):c.403T>G (p.Ser135Ala)
|
|
|
|
NM_001375834.1(WIPF1):c.422T>C (p.Phe141Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.427C>A (p.Pro143Thr)
|
|
|
|
NM_001375834.1(WIPF1):c.430C>G (p.Pro144Ala)
|
rs144275492
|
|
|
NM_001375834.1(WIPF1):c.432A>C (p.Pro144=)
|
|
|
|
NM_001375834.1(WIPF1):c.444G>A (p.Gly148=)
|
|
|
|
NM_001375834.1(WIPF1):c.469C>T (p.His157Tyr)
|
rs1358662433
|
|
|
NM_001375834.1(WIPF1):c.483C>G (p.Pro161=)
|
|
|
|
NM_001375834.1(WIPF1):c.509C>T (p.Pro170Leu)
|
rs560424291
|
|
|
NM_001375834.1(WIPF1):c.51+14C>A
|
|
|
|
NM_001375834.1(WIPF1):c.51+19_51+22del
|
|
|
|
NM_001375834.1(WIPF1):c.51+4_51+7del
|
rs1685384616
|
|
|
NM_001375834.1(WIPF1):c.510G>A (p.Pro170=)
|
|
|
|
NM_001375834.1(WIPF1):c.52-15A>G
|
|
|
|
NM_001375834.1(WIPF1):c.532T>A (p.Ser178Thr)
|
|
|
|
NM_001375834.1(WIPF1):c.551C>T (p.Pro184Leu)
|
rs752786667
|
|
|
NM_001375834.1(WIPF1):c.560T>C (p.Val187Ala)
|
|
|
|
NM_001375834.1(WIPF1):c.587C>G (p.Ser196Ter)
|
|
|
|
NM_001375834.1(WIPF1):c.605G>C (p.Gly202Ala)
|
rs1684887381
|
|
|
NM_001375834.1(WIPF1):c.606G>T (p.Gly202=)
|
|
|
|
NM_001375834.1(WIPF1):c.613C>A (p.Pro205Thr)
|
rs150415094
|
|
|
NM_001375834.1(WIPF1):c.615A>G (p.Pro205=)
|
|
|
|
NM_001375834.1(WIPF1):c.618G>A (p.Val206=)
|
|
|
|
NM_001375834.1(WIPF1):c.61G>A (p.Glu21Lys)
|
rs1685238274
|
|
|
NM_001375834.1(WIPF1):c.621C>G (p.Pro207=)
|
|
|
|
NM_001375834.1(WIPF1):c.664T>G (p.Phe222Val)
|
rs2105807074
|
|
|
NM_001375834.1(WIPF1):c.668C>G (p.Pro223Arg)
|
rs2105807046
|
|
|
NM_001375834.1(WIPF1):c.66G>A (p.Lys22=)
|
|
|
|
NM_001375834.1(WIPF1):c.679G>A (p.Gly227Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.679G>T (p.Gly227Cys)
|
rs778029521
|
|
|
NM_001375834.1(WIPF1):c.707G>C (p.Arg236Pro)
|
rs1412093478
|
|
|
NM_001375834.1(WIPF1):c.723C>A (p.Ser241Arg)
|
|
|
|
NM_001375834.1(WIPF1):c.762T>A (p.Pro254=)
|
|
|
|
NM_001375834.1(WIPF1):c.764C>A (p.Thr255Asn)
|
|
|
|
NM_001375834.1(WIPF1):c.765C>A (p.Thr255=)
|
|
|
|
NM_001375834.1(WIPF1):c.778T>A (p.Leu260Met)
|
rs1684872337
|
|
|
NM_001375834.1(WIPF1):c.810A>G (p.Pro270=)
|
|
|
|
NM_001375834.1(WIPF1):c.811G>A (p.Val271Met)
|
rs1684870740
|
|
|
NM_001375834.1(WIPF1):c.811G>C (p.Val271Leu)
|
rs1684870740
|
|
|
NM_001375834.1(WIPF1):c.843G>C (p.Ala281=)
|
|
|
|
NM_001375834.1(WIPF1):c.843G>T (p.Ala281=)
|
rs369696922
|
|
|
NM_001375834.1(WIPF1):c.848C>G (p.Pro283Arg)
|
rs369736015
|
|
|
NM_001375834.1(WIPF1):c.851CTC[3] (p.Pro287del)
|
rs556678311
|
|
|
NM_001375834.1(WIPF1):c.851CTC[5] (p.Pro287dup)
|
rs556678311
|
|
|
NM_001375834.1(WIPF1):c.870C>G (p.Asn290Lys)
|
rs2105806273
|
|
|
NM_001375834.1(WIPF1):c.893C>G (p.Pro298Arg)
|
|
|
|
NM_001375834.1(WIPF1):c.894G>A (p.Pro298=)
|
|
|
|
NM_001375834.1(WIPF1):c.91G>T (p.Ala31Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.926C>T (p.Pro309Leu)
|
|
|
|
NM_001375834.1(WIPF1):c.936T>A (p.Pro312=)
|
|
|
|
NM_001375834.1(WIPF1):c.936T>G (p.Pro312=)
|
rs1040586347
|
|
|
NM_001375834.1(WIPF1):c.941G>A (p.Ser314Asn)
|
|
|
|
NM_001375834.1(WIPF1):c.961C>T (p.Leu321=)
|
|
|
|
NM_001375834.1(WIPF1):c.971G>A (p.Ser324Asn)
|
rs1397897929
|
|
|
NM_001375834.1(WIPF1):c.975C>G (p.Ser325=)
|
rs751419161
|
|
|
NM_001375834.1(WIPF1):c.978C>T (p.Ser326=)
|
|
|
|
NM_001375834.1(WIPF1):c.980G>A (p.Gly327Asp)
|
|
|
|
NM_001375834.1(WIPF1):c.983A>G (p.Asn328Ser)
|
|
|
|
NM_001375834.1(WIPF1):c.984T>C (p.Asn328=)
|
|
|
|
NM_001375834.1(WIPF1):c.996A>G (p.Pro332=)
|
rs2105805756
|
|
|
NM_001399.5(EDA):c.-36_47del (p.Met1fs)
|
rs1931920527
|
|
|
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
|
|
|
|
NM_001399.5(EDA):c.1008C>T (p.Ile336=)
|
rs746241095
|
|
|
NM_001399.5(EDA):c.1009G>T (p.Glu337Ter)
|
rs191378148
|
|
|
NM_001399.5(EDA):c.1010A>T (p.Glu337Val)
|
|
|
|
NM_001399.5(EDA):c.1012A>G (p.Thr338Ala)
|
|
|
|
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
|
|
|
|
NM_001399.5(EDA):c.1026C>T (p.Asn342=)
|
rs2147519135
|
|
|
NM_001399.5(EDA):c.1029C>G (p.Tyr343Ter)
|
|
|
|
NM_001399.5(EDA):c.1029del (p.Asn342_Tyr343insTer)
|
|
|
|
NM_001399.5(EDA):c.1035T>C (p.Thr345=)
|
rs2147519148
|
|
|
NM_001399.5(EDA):c.1036T>C (p.Cys346Arg)
|
|
|
|
NM_001399.5(EDA):c.1041T>C (p.Tyr347=)
|
rs2020253809
|
|
|
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
|
|
|
|
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)
|
rs132630317
|
|
|
NM_001399.5(EDA):c.1045G>T (p.Ala349Ser)
|
rs132630317
|
|
|
NM_001399.5(EDA):c.1048G>T (p.Gly350Cys)
|
rs2147519167
|
|
|
NM_001399.5(EDA):c.1066G>A (p.Ala356Thr)
|
|
|
|
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp)
|
rs876657639
|
|
|
NM_001399.5(EDA):c.1067C>T (p.Ala356Val)
|
rs876657639
|
|
|
NM_001399.5(EDA):c.1068C>T (p.Ala356=)
|
|
|
|
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)
|
rs886039347
|
|
|
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
|
|
|
|
NM_001399.5(EDA):c.1074G>A (p.Gln358=)
|
rs2147519229
|
|
|
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
|
|
|
|
NM_001399.5(EDA):c.1091T>C (p.Met364Thr)
|
|
|
|
NM_001399.5(EDA):c.1093G>A (p.Val365Met)
|
rs2147519270
|
|
|
NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs)
|
rs1556110934
|
|
|
NM_001399.5(EDA):c.1104C>T (p.Asp368=)
|
rs150292516
|
|
|
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn)
|
rs1569407331
|
|
|
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
|
|
|
|
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)
|
rs2020255486
|
|
|
NM_001399.5(EDA):c.1119G>A (p.Met373Ile)
|
|
|
|
NM_001399.5(EDA):c.1119G>T (p.Met373Ile)
|
|
|
|
NM_001399.5(EDA):c.111G>C (p.Gly37=)
|
rs1301485954
|
|
|
NM_001399.5(EDA):c.1133C>T (p.Thr378Met)
|
rs1569407346
|
|
|
NM_001399.5(EDA):c.1143G>T (p.Gly381=)
|
|
|
|
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr)
|
rs749830948
|
|
|
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)
|
|
|
|
NM_001399.5(EDA):c.1144del (p.Ala382fs)
|
|
|
|
NM_001399.5(EDA):c.1152G>T (p.Arg384Ser)
|
rs2020256386
|
|
|
NM_001399.5(EDA):c.1167T>G (p.Pro389=)
|
|
|
|
NM_001399.5(EDA):c.1176G>C (p.Ter392Tyr)
|
rs2020256932
|
|
|
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
|
|
|
|
NM_001399.5(EDA):c.121C>T (p.Leu41=)
|
rs2147197470
|
|
|
NM_001399.5(EDA):c.134G>A (p.Gly45Asp)
|
rs1931938364
|
|
|
NM_001399.5(EDA):c.148T>G (p.Ser50Ala)
|
rs1931939988
|
|
|
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
|
|
|
|
NM_001399.5(EDA):c.163C>G (p.Leu55Val)
|
rs1602221926
|
|
|
NM_001399.5(EDA):c.166C>T (p.Leu56=)
|
|
|
|
NM_001399.5(EDA):c.167T>A (p.Leu56Gln)
|
rs1569272203
|
|
|
NM_001399.5(EDA):c.170C>G (p.Thr57Arg)
|
|
|
|
NM_001399.5(EDA):c.181T>A (p.Tyr61Asn)
|
rs132630308
|
|
|
NM_001399.5(EDA):c.181T>C (p.Tyr61His)
|
rs132630308
|
|
|
NM_001399.5(EDA):c.183C>G (p.Tyr61Ter)
|
rs132630318
|
|
|
NM_001399.5(EDA):c.183C>T (p.Tyr61=)
|
rs132630318
|
|
|
NM_001399.5(EDA):c.195C>A (p.Arg65=)
|
rs2147197722
|
|
|
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
|
|
|
|
NM_001399.5(EDA):c.198G>A (p.Ser66=)
|
|
|
|
NM_001399.5(EDA):c.198G>C (p.Ser66=)
|
|
|
|
NM_001399.5(EDA):c.1A>G (p.Met1Val)
|
rs2147196982
|
|
|
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
|
|
|
|
NM_001399.5(EDA):c.213del (p.Glu71fs)
|
rs2147197808
|
|
|
NM_001399.5(EDA):c.215G>A (p.Arg72His)
|
|
|
|
NM_001399.5(EDA):c.216_220del (p.Gly73fs)
|
rs2147197831
|
|
|
NM_001399.5(EDA):c.218G>C (p.Gly73Ala)
|
|
|
|
NM_001399.5(EDA):c.223G>T (p.Glu75Ter)
|
rs2147197866
|
|
|
NM_001399.5(EDA):c.225G>A (p.Glu75=)
|
|
|
|
NM_001399.5(EDA):c.228_234delinsAA (p.Leu78fs)
|
rs1555972067
|
|
|
NM_001399.5(EDA):c.234T>A (p.Leu78=)
|
rs1569272277
|
|
|
NM_001399.5(EDA):c.239dup (p.Ser81fs)
|
rs1555972071
|
|
|
NM_001399.5(EDA):c.243G>C (p.Ser81=)
|
|
|
|
NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)
|
|
|
|
NM_001399.5(EDA):c.249C>T (p.Thr83=)
|
rs769141538
|
|
|
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del)
|
rs763527972
|
|
|
NM_001399.5(EDA):c.252del (p.Gly85fs)
|
rs1569272328
|
|
|
NM_001399.5(EDA):c.258C>T (p.Thr86=)
|
rs1931955604
|
|
|
NM_001399.5(EDA):c.271dup (p.Ser91fs)
|
rs1931956776
|
|
|
NM_001399.5(EDA):c.272dup (p.Ser91fs)
|
rs397516656
|
|
|
NM_001399.5(EDA):c.273C>T (p.Ser91=)
|
|
|
|
NM_001399.5(EDA):c.288C>G (p.Leu96=)
|
|
|
|
NM_001399.5(EDA):c.28G>C (p.Glu10Gln)
|
|
|
|
NM_001399.5(EDA):c.28G>T (p.Glu10Ter)
|
|
|
|
NM_001399.5(EDA):c.2T>G (p.Met1Arg)
|
|
|
|
NM_001399.5(EDA):c.318T>C (p.Leu106=)
|
rs1602222372
|
|
|
NM_001399.5(EDA):c.321G>A (p.Gly107=)
|
rs2147198265
|
|
|
NM_001399.5(EDA):c.321G>C (p.Gly107=)
|
|
|
|
NM_001399.5(EDA):c.326dup (p.Ser110fs)
|
rs2147198269
|
|
|
NM_001399.5(EDA):c.327G>C (p.Pro109=)
|
|
|
|
NM_001399.5(EDA):c.345A>T (p.Pro115=)
|
rs775366784
|
|
|
NM_001399.5(EDA):c.354G>A (p.Pro118=)
|
|
|
|
NM_001399.5(EDA):c.354G>C (p.Pro118=)
|
rs762842929
|
|
|
NM_001399.5(EDA):c.366A>C (p.Ala122=)
|
rs1931965002
|
|
|
NM_001399.5(EDA):c.36G>A (p.Leu12=)
|
|
|
|
NM_001399.5(EDA):c.375T>C (p.Ser125=)
|
|
|
|
NM_001399.5(EDA):c.387C>G (p.Asp129Glu)
|
|
|
|
NM_001399.5(EDA):c.396+4dup
|
rs1569272528
|
|
|
NM_001399.5(EDA):c.396+5G>C
|
rs1931970978
|
|
|
NM_001399.5(EDA):c.396+9C>T
|
rs1931971305
|
|
|
NM_001399.5(EDA):c.397-12T>C
|
|
|
|
NM_001399.5(EDA):c.397-16_397-11del
|
|
|
|
NM_001399.5(EDA):c.397-19G>A
|
|
|
|
NM_001399.5(EDA):c.397-1G>C
|
|
|
|
NM_001399.5(EDA):c.397-2A>T
|
|
|
|
NM_001399.5(EDA):c.397-6T>C
|
|
|
|
NM_001399.5(EDA):c.39T>C (p.Pro13=)
|
|
|
|
NM_001399.5(EDA):c.406T>C (p.Leu136=)
|
|
|
|
NM_001399.5(EDA):c.410A>T (p.Asn137Ile)
|
rs2147419026
|
|
|
NM_001399.5(EDA):c.413_416del (p.Phe138fs)
|
rs2019017595
|
|
|
NM_001399.5(EDA):c.414C>T (p.Phe138=)
|
|
|
|
NM_001399.5(EDA):c.42A>G (p.Ala14=)
|
|
|
|
NM_001399.5(EDA):c.440C>G (p.Ser147Cys)
|
rs2147419080
|
|
|
NM_001399.5(EDA):c.441dup (p.Glu148Ter)
|
rs2147419086
|
|
|
NM_001399.5(EDA):c.456G>A (p.Arg152=)
|
rs2147419121
|
|
|
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)
|
rs397516662
|
|
|
NM_001399.5(EDA):c.459T>C (p.Arg153=)
|
rs2147419146
|
|
|
NM_001399.5(EDA):c.459T>G (p.Arg153=)
|
|
|
|
NM_001399.5(EDA):c.459dup (p.Val154fs)
|
rs1569384962
|
|
|
NM_001399.5(EDA):c.462T>C (p.Val154=)
|
|
|
|
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)
|
rs132630313
|
|
|
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
|
|
|
|
NM_001399.5(EDA):c.471T>C (p.Asn157=)
|
|
|
|
NM_001399.5(EDA):c.473A>G (p.Lys158Arg)
|
rs982209417
|
|
|
NM_001399.5(EDA):c.476G>C (p.Arg159Thr)
|
rs1556039084
|
|
|
NM_001399.5(EDA):c.479G>A (p.Ser160Asn)
|
rs1556039088
|
|
|
NM_001399.5(EDA):c.486_487insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAGCAAAAGC (p.Asn163delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer)
|
|
|
|
NM_001399.5(EDA):c.48G>A (p.Ala16=)
|
rs2147197188
|
|
|
NM_001399.5(EDA):c.494G>C (p.Gly165Ala)
|
rs1057521131
|
|
|
NM_001399.5(EDA):c.497C>T (p.Ala166Val)
|
|
|
|
NM_001399.5(EDA):c.497del (p.Ala166fs)
|
rs2147419276
|
|
|
NM_001399.5(EDA):c.502+10_502+14del
|
|
|
|
NM_001399.5(EDA):c.502+16T>C
|
|
|
|
NM_001399.5(EDA):c.503-13A>G
|
|
|
|
NM_001399.5(EDA):c.503-14T>C
|
|
|
|
NM_001399.5(EDA):c.503-2del
|
rs1602614385
|
|
|
NM_001399.5(EDA):c.503-4A>C
|
rs1602614380
|
|
|
NM_001399.5(EDA):c.521_522delinsT (p.Lys174fs)
|
rs1556092261
|
|
|
NM_001399.5(EDA):c.526+17A>G
|
|
|
|
NM_001399.5(EDA):c.526+1G>A
|
rs2147503858
|
|
|
NM_001399.5(EDA):c.526+20A>C
|
|
|
|
NM_001399.5(EDA):c.526+5G>A
|
rs397516664
|
|
|
NM_001399.5(EDA):c.527-18del
|
|
|
|
NM_001399.5(EDA):c.527-19A>G
|
|
|
|
NM_001399.5(EDA):c.527-2A>T
|
rs1569404780
|
|
|
NM_001399.5(EDA):c.527-7T>C
|
rs2147509468
|
|
|
NM_001399.5(EDA):c.527-9A>G
|
|
|
|
NM_001399.5(EDA):c.528A>G (p.Gly176=)
|
rs2147509479
|
|
|
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
|
|
|
|
NM_001399.5(EDA):c.540A>G (p.Gly180=)
|
|
|
|
NM_001399.5(EDA):c.543_569del (p.Asn185_Pro193del)
|
|
|
|
NM_001399.5(EDA):c.546T>G (p.Pro182=)
|
rs758937877
|
|
|
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del)
|
rs397516665
|
|
|
NM_001399.5(EDA):c.552C>A (p.Pro184=)
|
|
|
|
NM_001399.5(EDA):c.552_578del (p.Asn185_Pro193del)
|
rs2147509524
|
|
|
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)
|
rs397516666
|
|
|
NM_001399.5(EDA):c.560dup (p.Pro188fs)
|
rs1556098384
|
|
|
NM_001399.5(EDA):c.564A>G (p.Pro188=)
|
|
|
|
NM_001399.5(EDA):c.565G>A (p.Gly189Arg)
|
|
|
|
NM_001399.5(EDA):c.570C>T (p.Pro190=)
|
rs1328353332
|
|
|
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1])
|
rs397516668
|
|
|
NM_001399.5(EDA):c.572del (p.Pro191fs)
|
|
|
|
NM_001399.5(EDA):c.576_592del (p.Pro193fs)
|
rs2147509622
|
|
|
NM_001399.5(EDA):c.582A>T (p.Pro194=)
|
rs2147509679
|
|
|
NM_001399.5(EDA):c.585_697del (p.Pro196fs)
|
rs2147509660
|
|
|
NM_001399.5(EDA):c.588C>A (p.Pro196=)
|
rs2020137851
|
|
|
NM_001399.5(EDA):c.589del (p.Gln197fs)
|
rs2020137674
|
|
|
NM_001399.5(EDA):c.58C>T (p.Arg20Ter)
|
|
|
|
NM_001399.5(EDA):c.595_613del (p.Pro199fs)
|
rs2147509712
|
|
|
NM_001399.5(EDA):c.597C>T (p.Pro199=)
|
|
|
|
NM_001399.5(EDA):c.599del (p.Pro200fs)
|
rs1556098570
|
|
|
NM_001399.5(EDA):c.599dup (p.Gly201fs)
|
rs1556098570
|
|
|
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del)
|
rs1602618255
|
|
|
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
|
|
|
|
NM_001399.5(EDA):c.607C>T (p.Pro203Ser)
|
rs397516671
|
|
|
NM_001399.5(EDA):c.608C>T (p.Pro203Leu)
|
rs2020138975
|
|
|
NM_001399.5(EDA):c.610G>A (p.Gly204Arg)
|
rs2020139065
|
|
|
NM_001399.5(EDA):c.611G>A (p.Gly204Glu)
|
|
|
|
NM_001399.5(EDA):c.612G>A (p.Gly204=)
|
|
|
|
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])
|
rs1064793104
|
|
|
NM_001399.5(EDA):c.613A>T (p.Ile205Phe)
|
rs1556098680
|
|
|
NM_001399.5(EDA):c.614_699del (p.Ile205fs)
|
rs2147509775
|
|
|
NM_001399.5(EDA):c.617C>T (p.Pro206Leu)
|
rs1057520742
|
|
|
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)
|
rs2147509825
|
|
|
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)
|
rs2020139491
|
|
|
NM_001399.5(EDA):c.625C>T (p.Pro209Ser)
|
|
|
|
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)
|
rs132630315
|
|
|
NM_001399.5(EDA):c.628G>C (p.Gly210Arg)
|
rs1556098733
|
|
|
NM_001399.5(EDA):c.628G>T (p.Gly210Ter)
|
rs1556098733
|
|
|
NM_001399.5(EDA):c.632C>G (p.Thr211Arg)
|
rs2147509853
|
|
|
NM_001399.5(EDA):c.636T>A (p.Thr212=)
|
|
|
|
NM_001399.5(EDA):c.641T>A (p.Met214Lys)
|
rs1569404950
|
|
|
NM_001399.5(EDA):c.643G>T (p.Gly215Ter)
|
rs2147509886
|
|
|
NM_001399.5(EDA):c.644G>A (p.Gly215Glu)
|
|
|
|
NM_001399.5(EDA):c.646C>T (p.Pro216Ser)
|
rs1556098806
|
|
|
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del)
|
rs876657685
|
|
|
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
|
|
|
|
NM_001399.5(EDA):c.658C>G (p.Pro220Ala)
|
|
|
|
NM_001399.5(EDA):c.659C>T (p.Pro220Leu)
|
rs2147509932
|
|
|
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])
|
rs876657686
|
|
|
NM_001399.5(EDA):c.660_668del (p.217PGP[2])
|
|
|
|
NM_001399.5(EDA):c.662G>A (p.Gly221Asp)
|
|
|
|
NM_001399.5(EDA):c.663_697del (p.Pro222fs)
|
rs397516670
|
|
|
NM_001399.5(EDA):c.66C>T (p.Ser22=)
|
rs2147197257
|
|
|
NM_001399.5(EDA):c.670G>C (p.Gly224Arg)
|
rs1602618398
|
|
|
NM_001399.5(EDA):c.672T>C (p.Gly224=)
|
|
|
|
NM_001399.5(EDA):c.673_706+2del
|
rs2020140911
|
|
|
NM_001399.5(EDA):c.676C>T (p.Gln226Ter)
|
rs727503007
|
|
|
NM_001399.5(EDA):c.67C>T (p.Gln23Ter)
|
rs132630310
|
|
|
NM_001399.5(EDA):c.681_697del (p.Pro228fs)
|
rs1556098978
|
|
|
NM_001399.5(EDA):c.684C>T (p.Pro228=)
|
rs1255651906
|
|
|
NM_001399.5(EDA):c.706+10_706+11del
|
rs1347482754
|
|
|
NM_001399.5(EDA):c.706+13G>C
|
|
|
|
NM_001399.5(EDA):c.706+14T>A
|
|
|
|
NM_001399.5(EDA):c.706+14T>C
|
|
|
|
NM_001399.5(EDA):c.706+1G>A
|
rs886039344
|
|
|
NM_001399.5(EDA):c.706+5G>T
|
rs780966428
|
|
|
NM_001399.5(EDA):c.706+8C>A
|
|
|
|
NM_001399.5(EDA):c.707-13T>G
|
rs2147511678
|
|
|
NM_001399.5(EDA):c.707-15T>G
|
|
|
|
NM_001399.5(EDA):c.707-17C>A
|
|
|
|
NM_001399.5(EDA):c.707-18T>G
|
|
|
|
NM_001399.5(EDA):c.707-7T>C
|
|
|
|
NM_001399.5(EDA):c.714T>C (p.Ala238=)
|
rs2147511706
|
|
|
NM_001399.5(EDA):c.720del (p.Ala241fs)
|
|
|
|
NM_001399.5(EDA):c.730C>T (p.Arg244Ter)
|
rs397516672
|
|
|
NM_001399.5(EDA):c.732A>T (p.Arg244=)
|
rs2147511739
|
|
|
NM_001399.5(EDA):c.741+17T>C
|
|
|
|
NM_001399.5(EDA):c.741+18C>G
|
|
|
|
NM_001399.5(EDA):c.741+18C>T
|
|
|
|
NM_001399.5(EDA):c.741G>A (p.Gln247=)
|
rs886042183
|
|
|
NM_001399.5(EDA):c.741G>T (p.Gln247His)
|
rs886042183
|
|
|
NM_001399.5(EDA):c.742-20_742-17del
|
|
|
|
NM_001399.5(EDA):c.744A>G (p.Pro248=)
|
rs2147512873
|
|
|
NM_001399.5(EDA):c.753G>T (p.Val251=)
|
|
|
|
NM_001399.5(EDA):c.759A>T (p.Leu253=)
|
|
|
|
NM_001399.5(EDA):c.764G>A (p.Gly255Asp)
|
rs1064793105
|
|
|
NM_001399.5(EDA):c.766C>T (p.Gln256Ter)
|
rs727504417
|
|
|
NM_001399.5(EDA):c.771G>A (p.Gly257=)
|
rs2147512913
|
|
|
NM_001399.5(EDA):c.777A>G (p.Ala259=)
|
rs777145505
|
|
|
NM_001399.5(EDA):c.793+10A>G
|
|
|
|
NM_001399.5(EDA):c.793+19T>C
|
|
|
|
NM_001399.5(EDA):c.793+19del
|
|
|
|
NM_001399.5(EDA):c.793+20C>G
|
|
|
|
NM_001399.5(EDA):c.794-11C>T
|
rs2147516230
|
|
|
NM_001399.5(EDA):c.794-14_794-12del
|
|
|
|
NM_001399.5(EDA):c.794-1G>A
|
rs2147516240
|
|
|
NM_001399.5(EDA):c.794-7T>C
|
|
|
|
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
|
|
|
|
NM_001399.5(EDA):c.794A>G (p.Asp265Gly)
|
rs727504750
|
|
|
NM_001399.5(EDA):c.798T>C (p.Leu266=)
|
rs2147516257
|
|
|
NM_001399.5(EDA):c.801A>G (p.Ser267=)
|
rs2147516275
|
|
|
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
|
|
|
|
NM_001399.5(EDA):c.805G>A (p.Gly269Arg)
|
|
|
|
NM_001399.5(EDA):c.810G>A (p.Val270=)
|
|
|
|
NM_001399.5(EDA):c.814A>G (p.Asn272Asp)
|
rs1556106742
|
|
|
NM_001399.5(EDA):c.822del (p.Trp274fs)
|
rs397516676
|
|
|
NM_001399.5(EDA):c.826C>G (p.Arg276Gly)
|
|
|
|
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)
|
rs387907197
|
|
|
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
|
|
|
|
NM_001399.5(EDA):c.827G>T (p.Arg276Leu)
|
rs1057517731
|
|
|
NM_001399.5(EDA):c.831C>T (p.Ile277=)
|
|
|
|
NM_001399.5(EDA):c.836T>G (p.Met279Arg)
|
|
|
|
NM_001399.5(EDA):c.852T>C (p.Phe284=)
|
rs2147516387
|
|
|
NM_001399.5(EDA):c.853A>G (p.Lys285Glu)
|
rs1556106974
|
|
|
NM_001399.5(EDA):c.858A>G (p.Leu286=)
|
rs2147516404
|
|
|
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)
|
rs879255551
|
|
|
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln)
|
rs2020226101
|
|
|
NM_001399.5(EDA):c.867C>A (p.Arg289=)
|
rs1471642587
|
|
|
NM_001399.5(EDA):c.867C>T (p.Arg289=)
|
|
|
|
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)
|
rs397516677
|
|
|
NM_001399.5(EDA):c.871G>C (p.Gly291Arg)
|
|
|
|
NM_001399.5(EDA):c.872G>A (p.Gly291Glu)
|
rs886042021
|
|
|
NM_001399.5(EDA):c.872G>T (p.Gly291Val)
|
|
|
|
NM_001399.5(EDA):c.873G>A (p.Gly291=)
|
|
|
|
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del)
|
rs1602622972
|
|
|
NM_001399.5(EDA):c.881A>T (p.Glu294Val)
|
rs397516678
|
|
|
NM_001399.5(EDA):c.883del (p.Val295fs)
|
|
|
|
NM_001399.5(EDA):c.885A>G (p.Val295=)
|
|
|
|
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del)
|
rs2147516497
|
|
|
NM_001399.5(EDA):c.886C>T (p.Leu296=)
|
|
|
|
NM_001399.5(EDA):c.889_898del (p.Val297fs)
|
|
|
|
NM_001399.5(EDA):c.894C>T (p.Asp298=)
|
rs1602623024
|
|
|
NM_001399.5(EDA):c.895G>A (p.Gly299Ser)
|
rs397516679
|
|
|
NM_001399.5(EDA):c.895G>T (p.Gly299Cys)
|
|
|
|
NM_001399.5(EDA):c.896G>A (p.Gly299Asp)
|
rs2147516523
|
|
|
NM_001399.5(EDA):c.897C>T (p.Gly299=)
|
|
|
|
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp)
|
rs2020226899
|
|
|
NM_001399.5(EDA):c.904T>C (p.Phe302Leu)
|
|
|
|
NM_001399.5(EDA):c.90C>A (p.Ala30=)
|
|
|
|
NM_001399.5(EDA):c.914G>A (p.Ser305Asn)
|
rs2020227357
|
|
|
NM_001399.5(EDA):c.916C>T (p.Gln306Ter)
|
rs2147516557
|
|
|
NM_001399.5(EDA):c.917A>C (p.Gln306Pro)
|
|
|
|
NM_001399.5(EDA):c.924+14T>G
|
|
|
|
NM_001399.5(EDA):c.924+15A>C
|
|
|
|
NM_001399.5(EDA):c.924+1G>A
|
rs2147516572
|
|
|
NM_001399.5(EDA):c.924+20T>G
|
|
|
|
NM_001399.5(EDA):c.924+4A>T
|
|
|
|
NM_001399.5(EDA):c.924+5G>A
|
rs2020227617
|
|
|
NM_001399.5(EDA):c.924+8C>A
|
rs370406516
|
|
|
NM_001399.5(EDA):c.924+8C>T
|
|
|
|
NM_001399.5(EDA):c.924+9G>A
|
|
|
|
NM_001399.5(EDA):c.925-11C>T
|
|
|
|
NM_001399.5(EDA):c.925-13G>A
|
|
|
|
NM_001399.5(EDA):c.925-17T>G
|
|
|
|
NM_001399.5(EDA):c.927A>G (p.Val309=)
|
|
|
|
NM_001399.5(EDA):c.928T>G (p.Tyr310Asp)
|
|
|
|
NM_001399.5(EDA):c.930C>T (p.Tyr310=)
|
|
|
|
NM_001399.5(EDA):c.935T>C (p.Ile312Thr)
|
rs1791938725
|
|
|
NM_001399.5(EDA):c.941T>C (p.Phe314Ser)
|
rs1556110180
|
|
|
NM_001399.5(EDA):c.948C>G (p.Asp316Glu)
|
|
|
|
NM_001399.5(EDA):c.950T>G (p.Phe317Cys)
|
rs2020251589
|
|
|
NM_001399.5(EDA):c.958T>C (p.Tyr320His)
|
|
|
|
NM_001399.5(EDA):c.958T>G (p.Tyr320Asp)
|
rs1416551006
|
|
|
NM_001399.5(EDA):c.959A>C (p.Tyr320Ser)
|
|
|
|
NM_001399.5(EDA):c.960T>C (p.Tyr320=)
|
|
|
|
NM_001399.5(EDA):c.970G>A (p.Val324Met)
|
rs1556110308
|
|
|
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr)
|
rs2147519024
|
|
|
NM_001399.5(EDA):c.97C>A (p.Arg33=)
|
|
|
|
NM_001399.5(EDA):c.97C>T (p.Arg33Trp)
|
rs1168030930
|
|
|
NM_001399.5(EDA):c.986T>C (p.Phe329Ser)
|
rs1569407150
|
|
|
NM_001399.5(EDA):c.986T>G (p.Phe329Cys)
|
|
|
|
NM_001399.5(EDA):c.988C>T (p.Leu330=)
|
rs2147519044
|
|
|
NM_001399.5(EDA):c.991C>T (p.Gln331Ter)
|
rs727503011
|
|
|
NM_001399.5(EDA):c.993G>A (p.Gln331=)
|
|
|
|
NM_001399.5(EDA):c.995G>A (p.Cys332Tyr)
|
rs1602624745
|
|
|
NM_001399.5(EDA):c.998C>G (p.Thr333Arg)
|
rs1556110379
|
|
|
NM_001449.4(FHL1):c.157-?_*1334+?dup
|
|
|
|
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
|
|
|
|
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val)
|
rs1556619338
|
|
|
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
|
|
|
|
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
|
|
|
|
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
|
|
|
|
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)
|
rs2059993925
|
|
|
NM_002351.5(SH2D1A):c.138-1G>A
|
|
|
|
NM_002351.5(SH2D1A):c.138-7T>C
|
|
|
|
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
|
|
|
|
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val)
|
rs2147531318
|
|
|
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
|
|
|
|
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)
|
rs111033623
|
|
|
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln)
|
rs111033630
|
|
|
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=)
|
rs1569527577
|
|
|
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter)
|
rs746035909
|
|
|
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
|
|
|
|
NM_002351.5(SH2D1A):c.197_201+9del
|
rs2060052777
|
|
|
NM_002351.5(SH2D1A):c.201+12T>C
|
|
|
|
NM_002351.5(SH2D1A):c.201+1G>A
|
|
|
|
NM_002351.5(SH2D1A):c.201+20del
|
|
|
|
NM_002351.5(SH2D1A):c.201+2T>C
|
rs2147531379
|
|
|
NM_002351.5(SH2D1A):c.202-10T>C
|
|
|
|
NM_002351.5(SH2D1A):c.202-17G>A
|
rs2147534006
|
|
|
NM_002351.5(SH2D1A):c.202-5del
|
rs767110636
|
|
|
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile)
|
rs111033627
|
|
|
NM_002351.5(SH2D1A):c.219T>C (p.His73=)
|
|
|
|
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=)
|
rs2147534039
|
|
|
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
|
|
|
|
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)
|
rs2147534047
|
|
|
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
|
|
|
|
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu)
|
rs775759946
|
|
|
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
|
|
|
|
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
|
|
|
|
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)
|
rs2147519353
|
|
|
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
|
|
|
|
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=)
|
rs2060066337
|
|
|
NM_002351.5(SH2D1A):c.347-32_347-28del
|
rs200198093
|
|
|
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met)
|
rs2147534671
|
|
|
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)
|
rs2060068693
|
|
|
NM_002351.5(SH2D1A):c.366T>C (p.Asp122=)
|
|
|
|
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
|
rs2060068721
|
|
|
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly)
|
rs111033625
|
|
|
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
|
|
|
|
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=)
|
rs72610640
|
|
|
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=)
|
rs72610640
|
|
|
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)
|
rs2059993641
|
|
|
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
|
|
|
|
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
|
|
|
|
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)
|
|
|
|
NM_003588.4(CUL4B):c.46G>C (p.Ala16Pro)
|
|
|
|
NM_003588.4(CUL4B):c.5T>C (p.Met2Thr)
|
|
|
|
NM_003588.4(CUL4B):c.67+10T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1000-10T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1000-10del
|
rs748680802
|
|
|
NM_004586.3(RPS6KA3):c.1000-18T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1000-19dup
|
rs748680802
|
|
|
NM_004586.3(RPS6KA3):c.1000-7C>T
|
rs1555933444
|
|
|
NM_004586.3(RPS6KA3):c.1000-8C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1004T>C (p.Leu335Pro)
|
rs2067699414
|
|
|
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1038T>C (p.Pro346=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1062A>G (p.Thr354=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1103-10C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
|
rs2067670297
|
|
|
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
|
|
|
|
NM_004586.3(RPS6KA3):c.1227+14T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1227+18T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1227+7G>A
|
|
|
|
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
|
|
|
|
NM_004586.3(RPS6KA3):c.124A>G (p.Thr42Ala)
|
|
|
|
NM_004586.3(RPS6KA3):c.126+13T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.126+19C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1269A>T (p.Glu423Asp)
|
rs2067605278
|
|
|
NM_004586.3(RPS6KA3):c.127-19C>G
|
|
|
|
NM_004586.3(RPS6KA3):c.1291G>T (p.Gly431Cys)
|
|
|
|
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1336A>G (p.Met446Val)
|
|
|
|
NM_004586.3(RPS6KA3):c.1353+13dup
|
rs766402947
|
|
|
NM_004586.3(RPS6KA3):c.1353+5A>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1353+6T>A
|
|
|
|
NM_004586.3(RPS6KA3):c.1354-15A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.1354-17A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1377C>T (p.Asp459=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1402C>G (p.Leu468Val)
|
|
|
|
NM_004586.3(RPS6KA3):c.1413A>G (p.Gly471=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1422A>G (p.Pro474=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
|
|
|
|
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
|
|
|
|
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1602+13A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1602+17C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1602+2del
|
rs2148649846
|
|
|
NM_004586.3(RPS6KA3):c.1602+2dup
|
|
|
|
NM_004586.3(RPS6KA3):c.1603-19T>G
|
|
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
|
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1762G>A (p.Glu588Lys)
|
|
|
|
NM_004586.3(RPS6KA3):c.1765-2A>C
|
rs2067343280
|
|
|
NM_004586.3(RPS6KA3):c.17T>C (p.Leu6Pro)
|
rs1429116502
|
|
|
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
|
|
|
|
NM_004586.3(RPS6KA3):c.1842-20T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1842-7A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer)
|
rs1569190602
|
|
|
NM_004586.3(RPS6KA3):c.1851A>G (p.Pro617=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1858A>G (p.Asn620Asp)
|
rs2148635858
|
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
|
NM_004586.3(RPS6KA3):c.1920C>T (p.Leu640=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1952C>T (p.Thr651Ile)
|
|
|
|
NM_004586.3(RPS6KA3):c.1959+17A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.1960-16A>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter)
|
rs1603417440
|
|
|
NM_004586.3(RPS6KA3):c.2000G>A (p.Arg667Lys)
|
|
|
|
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
|
|
|
|
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
|
|
|
|
NM_004586.3(RPS6KA3):c.2037C>T (p.Ile679=)
|
|
|
|
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
|
|
|
|
NM_004586.3(RPS6KA3):c.2095G>A (p.Val699Ile)
|
|
|
|
NM_004586.3(RPS6KA3):c.2100+15A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.2100+5G>A
|
|
|
|
NM_004586.3(RPS6KA3):c.2101-19C>A
|
|
|
|
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
|
|
|
|
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
|
|
|
|
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)
|
rs2148622591
|
|
|
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
|
|
|
|
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)
|
rs1555950495
|
|
|
NM_004586.3(RPS6KA3):c.243+19C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.243+6T>G
|
|
|
|
NM_004586.3(RPS6KA3):c.244-17C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.244-20T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.244-4G>T
|
|
|
|
NM_004586.3(RPS6KA3):c.244-7A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer)
|
rs2148721944
|
|
|
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val)
|
rs1569232184
|
|
|
NM_004586.3(RPS6KA3):c.300G>T (p.Lys100Asn)
|
|
|
|
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
|
|
|
|
NM_004586.3(RPS6KA3):c.318A>G (p.Thr106=)
|
|
|
|
NM_004586.3(RPS6KA3):c.325+16A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.325+6T>A
|
|
|
|
NM_004586.3(RPS6KA3):c.326-20A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln)
|
|
|
|
NM_004586.3(RPS6KA3):c.387T>C (p.Phe129=)
|
|
|
|
NM_004586.3(RPS6KA3):c.406+11G>A
|
rs2148703536
|
|
|
NM_004586.3(RPS6KA3):c.406+12C>A
|
|
|
|
NM_004586.3(RPS6KA3):c.406+13C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.406+14G>A
|
|
|
|
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
|
|
|
|
NM_004586.3(RPS6KA3):c.486+20T>G
|
|
|
|
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
|
|
|
|
NM_004586.3(RPS6KA3):c.593+16A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.593+2_593+5del
|
rs1555942692
|
|
|
NM_004586.3(RPS6KA3):c.593+7A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.594-10dup
|
rs755566588
|
|
|
NM_004586.3(RPS6KA3):c.594-18T>C
|
|
|
|
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
|
|
|
|
NM_004586.3(RPS6KA3):c.62G>T (p.Ser21Ile)
|
rs996264009
|
|
|
NM_004586.3(RPS6KA3):c.631+12del
|
|
|
|
NM_004586.3(RPS6KA3):c.631+12dup
|
rs751517771
|
|
|
NM_004586.3(RPS6KA3):c.631+17C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
|
|
|
|
NM_004586.3(RPS6KA3):c.70-15C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.70-19C>A
|
|
|
|
NM_004586.3(RPS6KA3):c.70-20G>A
|
|
|
|
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val)
|
rs1569216043
|
|
|
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
|
|
|
|
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter)
|
rs1603425345
|
|
|
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs)
|
rs2148686409
|
|
|
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)
|
rs1569215936
|
|
|
NM_004586.3(RPS6KA3):c.765T>A (p.Gly255=)
|
|
|
|
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs)
|
rs2148686334
|
|
|
NM_004586.3(RPS6KA3):c.771A>G (p.Leu257=)
|
|
|
|
NM_004586.3(RPS6KA3):c.772A>G (p.Met258Val)
|
rs2148686350
|
|
|
NM_004586.3(RPS6KA3):c.775-17A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.83T>C (p.Ile28Thr)
|
|
|
|
NM_004586.3(RPS6KA3):c.840_845+3del
|
|
|
|
NM_004586.3(RPS6KA3):c.845+10C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.845+5G>A
|
|
|
|
NM_004586.3(RPS6KA3):c.846-13A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.846A>C (p.Lys282Asn)
|
|
|
|
NM_004586.3(RPS6KA3):c.877C>G (p.Pro293Ala)
|
|
|
|
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
|
|
|
|
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)
|
rs1603422409
|
|
|
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
|
|
|
|
NM_004586.3(RPS6KA3):c.934+14_934+17del
|
|
|
|
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
|
|
|
|
NM_004586.3(RPS6KA3):c.999+2dup
|
rs2067702056
|
|
|
NM_005120.2(MED12):c.6273_6278dup
|
rs748394417
|
|
|
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)
|
rs748394417
|
|
|
NM_005120.2(MED12):c.6300_6329del
|
rs773480549
|
|
|
NM_005120.3(MED12):c.100-10C>G
|
|
|
|
NM_005120.3(MED12):c.100-11T>G
|
|
|
|
NM_005120.3(MED12):c.100-15G>T
|
|
|
|
NM_005120.3(MED12):c.100-15_100-14delinsAA
|
rs2147769578
|
|
|
NM_005120.3(MED12):c.100-15_100-14delinsTT
|
|
|
|
NM_005120.3(MED12):c.100-19C>T
|
rs930154299
|
|
|
NM_005120.3(MED12):c.100-2A>T
|
|
|
|
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
|
|
|
|
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
|
|
|
|
NM_005120.3(MED12):c.1011A>G (p.Pro337=)
|
rs749348331
|
|
|
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
|
|
|
|
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
|
|
|
|
NM_005120.3(MED12):c.1026C>T (p.Pro342=)
|
|
|
|
NM_005120.3(MED12):c.1029G>A (p.Ser343=)
|
|
|
|
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)
|
rs1556334571
|
|
|
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
|
|
|
|
NM_005120.3(MED12):c.1068G>T (p.Arg356=)
|
|
|
|
NM_005120.3(MED12):c.106C>A (p.Leu36Met)
|
rs2147769903
|
|
|
NM_005120.3(MED12):c.1077T>G (p.Val359=)
|
|
|
|
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr)
|
rs2147780559
|
|
|
NM_005120.3(MED12):c.1101+14G>A
|
|
|
|
NM_005120.3(MED12):c.1101+14G>C
|
|
|
|
NM_005120.3(MED12):c.1101+16G>A
|
|
|
|
NM_005120.3(MED12):c.1101+19C>T
|
|
|
|
NM_005120.3(MED12):c.1101+3A>G
|
|
|
|
NM_005120.3(MED12):c.1102-14T>C
|
|
|
|
NM_005120.3(MED12):c.1102-20T>C
|
rs2147781663
|
|
|
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
|
|
|
|
NM_005120.3(MED12):c.1113G>A (p.Leu371=)
|
rs780470012
|
|
|
NM_005120.3(MED12):c.1131G>A (p.Leu377=)
|
rs755897379
|
|
|
NM_005120.3(MED12):c.1197T>A (p.Ile399=)
|
|
|
|
NM_005120.3(MED12):c.1203G>A (p.Pro401=)
|
rs368546216
|
|
|
NM_005120.3(MED12):c.1217T>C (p.Met406Thr)
|
|
|
|
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
|
|
|
|
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
|
|
|
|
NM_005120.3(MED12):c.1248+13A>G
|
|
|
|
NM_005120.3(MED12):c.1248+7C>G
|
rs2147782206
|
|
|
NM_005120.3(MED12):c.1249-16C>T
|
|
|
|
NM_005120.3(MED12):c.1249-4G>T
|
rs1272068008
|
|
|
NM_005120.3(MED12):c.1249-7A>G
|
|
|
|
NM_005120.3(MED12):c.1249G>A (p.Val417Ile)
|
rs2147783166
|
|
|
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys)
|
rs2147783217
|
|
|
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
|
|
|
|
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
|
|
|
|
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
|
|
|
|
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro)
|
|
|
|
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys)
|
|
|
|
NM_005120.3(MED12):c.1314C>T (p.Arg438=)
|
|
|
|
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg)
|
rs2092292301
|
|
|
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
|
|
|
|
NM_005120.3(MED12):c.1348+14A>C
|
rs937971791
|
|
|
NM_005120.3(MED12):c.135C>T (p.Phe45=)
|
rs2147770770
|
|
|
NM_005120.3(MED12):c.1374T>C (p.His458=)
|
|
|
|
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile)
|
rs2092292878
|
|
|
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
|
|
|
|
NM_005120.3(MED12):c.137A>G (p.Asn46Ser)
|
|
|
|
NM_005120.3(MED12):c.1409G>A (p.Arg470His)
|
|
|
|
NM_005120.3(MED12):c.1416C>T (p.Asp472=)
|
rs1569481100
|
|
|
NM_005120.3(MED12):c.1425C>T (p.Asn475=)
|
|
|
|
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn)
|
rs2092293014
|
|
|
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu)
|
|
|
|
NM_005120.3(MED12):c.1438C>G (p.Leu480Val)
|
|
|
|
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln)
|
|
|
|
NM_005120.3(MED12):c.144G>A (p.Gln48=)
|
|
|
|
NM_005120.3(MED12):c.1476T>C (p.Asp492=)
|
rs1602295711
|
|
|
NM_005120.3(MED12):c.1485+11A>G
|
|
|
|
NM_005120.3(MED12):c.1485+20G>C
|
|
|
|
NM_005120.3(MED12):c.1485+6C>T
|
rs565198403
|
|
|
NM_005120.3(MED12):c.1485+7G>A
|
rs2092293131
|
|
|
NM_005120.3(MED12):c.1485+9A>G
|
rs1602295737
|
|
|
NM_005120.3(MED12):c.1486-13C>T
|
|
|
|
NM_005120.3(MED12):c.1486-14C>T
|
|
|
|
NM_005120.3(MED12):c.1486-4C>A
|
|
|
|
NM_005120.3(MED12):c.1536C>T (p.Val512=)
|
rs942361290
|
|
|
NM_005120.3(MED12):c.153C>T (p.Val51=)
|
|
|
|
NM_005120.3(MED12):c.1554T>A (p.Gly518=)
|
rs2147786408
|
|
|
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly)
|
rs1289442309
|
|
|
NM_005120.3(MED12):c.15G>C (p.Gly5=)
|
|
|
|
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser)
|
|
|
|
NM_005120.3(MED12):c.1614T>C (p.Ala538=)
|
|
|
|
NM_005120.3(MED12):c.1617+16T>A
|
|
|
|
NM_005120.3(MED12):c.1617+8G>T
|
|
|
|
NM_005120.3(MED12):c.1618-18_1618-15del
|
rs1285811923
|
|
|
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr)
|
|
|
|
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln)
|
rs2147787733
|
|
|
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro)
|
|
|
|
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr)
|
rs370812643
|
|
|
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser)
|
|
|
|
NM_005120.3(MED12):c.1640C>T (p.Ala547Val)
|
|
|
|
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)
|
rs863223709
|
|
|
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser)
|
rs2092295382
|
|
|
NM_005120.3(MED12):c.1671C>T (p.Ser557=)
|
rs1556335123
|
|
|
NM_005120.3(MED12):c.1684A>G (p.Ser562Gly)
|
|
|
|
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu)
|
|
|
|
NM_005120.3(MED12):c.171C>T (p.Gly57=)
|
|
|
|
NM_005120.3(MED12):c.1744+10C>T
|
|
|
|
NM_005120.3(MED12):c.1744+5G>A
|
rs368353373
|
|
|
NM_005120.3(MED12):c.1744+6G>A
|
|
|
|
NM_005120.3(MED12):c.1745-10C>T
|
rs2147789290
|
|
|
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp)
|
rs2147789356
|
|
|
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln)
|
|
|
|
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
|
|
|
|
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
|
|
|
|
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu)
|
rs375897167
|
|
|
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
|
|
|
|
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
|
|
|
|
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile)
|
|
|
|
NM_005120.3(MED12):c.184G>A (p.Val62Ile)
|
rs1039763693
|
|
|
NM_005120.3(MED12):c.1875C>T (p.Ala625=)
|
|
|
|
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
|
|
|
|
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
|
|
|
|
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
|
|
|
|
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
|
|
|
|
NM_005120.3(MED12):c.1923C>G (p.Ala641=)
|
rs754725206
|
|
|
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)
|
rs1556335288
|
|
|
NM_005120.3(MED12):c.1924_1974+17dup
|
|
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
|
NM_005120.3(MED12):c.1935G>A (p.Glu645=)
|
rs376986062
|
|
|
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala)
|
|
|
|
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
|
|
|
|
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
|
|
|
|
NM_005120.3(MED12):c.1962C>T (p.Ser654=)
|
|
|
|
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)
|
rs1569481250
|
|
|
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
|
|
|
|
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro)
|
rs2147790051
|
|
|
NM_005120.3(MED12):c.1974+7G>A
|
|
|
|
NM_005120.3(MED12):c.1975-16T>C
|
|
|
|
NM_005120.3(MED12):c.1975-9T>C
|
|
|
|
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
|
|
|
|
NM_005120.3(MED12):c.1986C>T (p.Leu662=)
|
|
|
|
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
|
|
|
|
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
|
|
|
|
NM_005120.3(MED12):c.204+12C>G
|
|
|
|
NM_005120.3(MED12):c.204+12_204+13del
|
rs200301833
|
|
|
NM_005120.3(MED12):c.204+14G>C
|
|
|
|
NM_005120.3(MED12):c.204+9A>C
|
|
|
|
NM_005120.3(MED12):c.204+9A>G
|
|
|
|
NM_005120.3(MED12):c.205-11T>G
|
|
|
|
NM_005120.3(MED12):c.205-17C>T
|
|
|
|
NM_005120.3(MED12):c.205-3C>T
|
|
|
|
NM_005120.3(MED12):c.2055+18C>T
|
|
|
|
NM_005120.3(MED12):c.2055+20T>C
|
|
|
|
NM_005120.3(MED12):c.2056-16C>G
|
|
|
|
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala)
|
rs878854752
|
|
|
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
|
|
|
|
NM_005120.3(MED12):c.2091C>T (p.Gly697=)
|
|
|
|
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)
|
rs863223710
|
|
|
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del)
|
rs1261680398
|
|
|
NM_005120.3(MED12):c.2143A>G (p.Lys715Glu)
|
|
|
|
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
|
|
|
|
NM_005120.3(MED12):c.216C>T (p.Asn72=)
|
|
|
|
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
|
|
|
|
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
|
|
|
|
NM_005120.3(MED12):c.2193C>T (p.His731=)
|
|
|
|
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
|
|
|
|
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
|
|
|
|
NM_005120.3(MED12):c.2235A>G (p.Ser745=)
|
|
|
|
NM_005120.3(MED12):c.2247G>A (p.Glu749=)
|
|
|
|
NM_005120.3(MED12):c.2260T>C (p.Leu754=)
|
|
|
|
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
|
|
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
|
NM_005120.3(MED12):c.2271G>A (p.Leu757=)
|
rs756091104
|
|
|
NM_005120.3(MED12):c.2271G>C (p.Leu757=)
|
|
|
|
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
|
|
|
|
NM_005120.3(MED12):c.2286G>A (p.Lys762=)
|
rs1602297586
|
|
|
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr)
|
rs2147792986
|
|
|
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys)
|
|
|
|
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
|
|
|
|
NM_005120.3(MED12):c.2325C>G (p.Thr775=)
|
rs2147793224
|
|
|
NM_005120.3(MED12):c.232G>A (p.Ala78Thr)
|
|
|
|
NM_005120.3(MED12):c.2334C>T (p.Ile778=)
|
|
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
|
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
|
|
|
|
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
|
|
|
|
NM_005120.3(MED12):c.2371+13C>T
|
|
|
|
NM_005120.3(MED12):c.2371+4G>C
|
|
|
|
NM_005120.3(MED12):c.2371+7T>G
|
|
|
|
NM_005120.3(MED12):c.2372-10C>G
|
rs752691764
|
|
|
NM_005120.3(MED12):c.2372-10C>T
|
rs752691764
|
|
|
NM_005120.3(MED12):c.2372-15T>A
|
|
|
|
NM_005120.3(MED12):c.2372-17_2372-6del
|
|
|
|
NM_005120.3(MED12):c.2372-8C>G
|
|
|
|
NM_005120.3(MED12):c.2372-8dup
|
rs1457000276
|
|
|
NM_005120.3(MED12):c.2372-9C>A
|
rs758698633
|
|
|
NM_005120.3(MED12):c.2372-9C>G
|
rs758698633
|
|
|
NM_005120.3(MED12):c.2372-9C>T
|
|
|
|
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
|
|
|
|
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)
|
rs1602297729
|
|
|
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu)
|
rs2092301217
|
|
|
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
|
|
|
|
NM_005120.3(MED12):c.2422+11G>A
|
|
|
|
NM_005120.3(MED12):c.2422+6T>G
|
rs1569481413
|
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
|
NM_005120.3(MED12):c.2436G>A (p.Gly812=)
|
|
|
|
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
|
|
|
|
NM_005120.3(MED12):c.2451C>A (p.Arg817=)
|
rs2147795617
|
|
|
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln)
|
rs1192740859
|
|
|
NM_005120.3(MED12):c.2457G>A (p.Arg819=)
|
rs2147795650
|
|
|
NM_005120.3(MED12):c.245G>A (p.Arg82His)
|
|
|
|
NM_005120.3(MED12):c.2466C>T (p.Ala822=)
|
rs2147795665
|
|
|
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
|
|
|
|
NM_005120.3(MED12):c.2469C>T (p.Phe823=)
|
rs2147795677
|
|
|
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
|
|
|
|
NM_005120.3(MED12):c.2478T>C (p.Ala826=)
|
rs2147795724
|
|
|
NM_005120.3(MED12):c.2481A>G (p.Glu827=)
|
rs2147795738
|
|
|
NM_005120.3(MED12):c.2529G>C (p.Gln843His)
|
rs2147795833
|
|
|
NM_005120.3(MED12):c.2532C>G (p.Val844=)
|
|
|
|
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
|
|
|
|
NM_005120.3(MED12):c.2535G>C (p.Thr845=)
|
rs915335433
|
|
|
NM_005120.3(MED12):c.2541+13G>C
|
rs2147795910
|
|
|
NM_005120.3(MED12):c.2542-19C>T
|
|
|
|
NM_005120.3(MED12):c.2542-4T>G
|
rs2147796325
|
|
|
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln)
|
rs2092303365
|
|
|
NM_005120.3(MED12):c.2559G>A (p.Leu853=)
|
rs2147796383
|
|
|
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
|
|
|
|
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
|
|
|
|
NM_005120.3(MED12):c.2571G>C (p.Thr857=)
|
rs368090262
|
|
|
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
|
|
|
|
NM_005120.3(MED12):c.2616T>C (p.His872=)
|
|
|
|
NM_005120.3(MED12):c.2619G>A (p.Val873=)
|
rs763140070
|
|
|
NM_005120.3(MED12):c.2622G>A (p.Gln874=)
|
|
|
|
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
|
|
|
|
NM_005120.3(MED12):c.2649A>G (p.Ser883=)
|
|
|
|
NM_005120.3(MED12):c.2652C>T (p.Leu884=)
|
|
|
|
NM_005120.3(MED12):c.2667C>T (p.Leu889=)
|
|
|
|
NM_005120.3(MED12):c.2670C>T (p.Ile890=)
|
rs1602298322
|
|
|
NM_005120.3(MED12):c.267T>C (p.Thr89=)
|
|
|
|
NM_005120.3(MED12):c.2685+20G>A
|
|
|
|
NM_005120.3(MED12):c.2685+6G>A
|
rs2147796689
|
|
|
NM_005120.3(MED12):c.2686-16C>A
|
|
|
|
NM_005120.3(MED12):c.2686-17C>G
|
|
|
|
NM_005120.3(MED12):c.2686-20A>T
|
|
|
|
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
|
|
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
|
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
|
|
|
|
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
|
|
|
|
NM_005120.3(MED12):c.2817C>T (p.Leu939=)
|
|
|
|
NM_005120.3(MED12):c.281C>T (p.Pro94Leu)
|
rs1602293842
|
|
|
NM_005120.3(MED12):c.2823G>A (p.Gln941=)
|
|
|
|
NM_005120.3(MED12):c.2835A>G (p.Ala945=)
|
|
|
|
NM_005120.3(MED12):c.2849+15G>A
|
|
|
|
NM_005120.3(MED12):c.2850-16T>C
|
|
|
|
NM_005120.3(MED12):c.2850-7C>G
|
rs1556336208
|
|
|
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
|
|
|
|
NM_005120.3(MED12):c.285A>G (p.Gln95=)
|
|
|
|
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
|
|
|
|
NM_005120.3(MED12):c.2871T>C (p.His957=)
|
rs1602298730
|
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
|
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)
|
rs2147799414
|
|
|
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr)
|
|
|
|
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
|
|
|
|
NM_005120.3(MED12):c.2919T>C (p.Ala973=)
|
|
|
|
NM_005120.3(MED12):c.2940C>T (p.Thr980=)
|
|
|
|
NM_005120.3(MED12):c.2952T>C (p.His984=)
|
|
|
|
NM_005120.3(MED12):c.2964A>G (p.Lys988=)
|
rs1346914696
|
|
|
NM_005120.3(MED12):c.2981+9G>C
|
|
|
|
NM_005120.3(MED12):c.2982-14C>T
|
|
|
|
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
|
|
|
|
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
|
|
|
|
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
|
|
|
|
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
|
|
|
|
NM_005120.3(MED12):c.300T>C (p.Asp100=)
|
rs2147773351
|
|
|
NM_005120.3(MED12):c.3021C>T (p.Asn1007=)
|
|
|
|
NM_005120.3(MED12):c.3033G>A (p.Ser1011=)
|
|
|
|
NM_005120.3(MED12):c.3039A>C (p.Ser1013=)
|
|
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
|
NM_005120.3(MED12):c.3069C>A (p.Ile1023=)
|
rs753751305
|
|
|
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met)
|
rs753751305
|
|
|
NM_005120.3(MED12):c.3105C>G (p.Thr1035=)
|
|
|
|
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala)
|
rs2147800946
|
|
|
NM_005120.3(MED12):c.310C>T (p.Leu104=)
|
|
|
|
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)
|
rs1556336419
|
|
|
NM_005120.3(MED12):c.3129T>G (p.Leu1043=)
|
|
|
|
NM_005120.3(MED12):c.3156C>T (p.Ser1052=)
|
|
|
|
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser)
|
rs2147801044
|
|
|
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
|
|
|
|
NM_005120.3(MED12):c.3195C>T (p.His1065=)
|
|
|
|
NM_005120.3(MED12):c.3209+4T>C
|
|
|
|
NM_005120.3(MED12):c.3209+6G>A
|
|
|
|
NM_005120.3(MED12):c.3209+7G>T
|
rs2147801168
|
|
|
NM_005120.3(MED12):c.320C>T (p.Ala107Val)
|
rs2092284960
|
|
|
NM_005120.3(MED12):c.3210-18A>G
|
|
|
|
NM_005120.3(MED12):c.3210-20G>A
|
rs1032124326
|
|
|
NM_005120.3(MED12):c.3210-7T>C
|
|
|
|
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val)
|
rs2092308336
|
|
|
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
|
|
|
|
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
|
|
|
|
NM_005120.3(MED12):c.3246C>G (p.Thr1082=)
|
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
|
NM_005120.3(MED12):c.327C>T (p.Ser109=)
|
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
|
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
|
|
|
|
NM_005120.3(MED12):c.3297G>A (p.Leu1099=)
|
|
|
|
NM_005120.3(MED12):c.3354+6A>C
|
|
|
|
NM_005120.3(MED12):c.3355-11T>C
|
|
|
|
NM_005120.3(MED12):c.3355-14G>T
|
|
|
|
NM_005120.3(MED12):c.3355-16_3355-13del
|
rs1556336608
|
|
|
NM_005120.3(MED12):c.3355-8dup
|
rs750373111
|
|
|
NM_005120.3(MED12):c.336C>T (p.Ala112=)
|
|
|
|
NM_005120.3(MED12):c.3381G>A (p.Ser1127=)
|
rs369946933
|
|
|
NM_005120.3(MED12):c.3390T>G (p.Thr1130=)
|
|
|
|
NM_005120.3(MED12):c.3393T>C (p.Phe1131=)
|
|
|
|
NM_005120.3(MED12):c.3399C>T (p.Ala1133=)
|
rs1042095169
|
|
|
NM_005120.3(MED12):c.33C>A (p.His11Gln)
|
|
|
|
NM_005120.3(MED12):c.3412C>A (p.Arg1138=)
|
rs1057523906
|
|
|
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
|
|
|
|
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
|
|
|
|
NM_005120.3(MED12):c.3476-12T>C
|
|
|
|
NM_005120.3(MED12):c.3476-20C>G
|
|
|
|
NM_005120.3(MED12):c.3476-6T>A
|
|
|
|
NM_005120.3(MED12):c.3480T>C (p.Cys1160=)
|
rs1463883892
|
|
|
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
|
|
|
|
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
|
|
|
|
NM_005120.3(MED12):c.3498G>A (p.Glu1166=)
|
rs1556336751
|
|
|
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp)
|
rs1389138246
|
|
|
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln)
|
rs2147804813
|
|
|
NM_005120.3(MED12):c.3516C>A (p.Thr1172=)
|
rs1057521581
|
|
|
NM_005120.3(MED12):c.3546A>G (p.Thr1182=)
|
|
|
|
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
|
|
|
|
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg)
|
rs2147804938
|
|
|
NM_005120.3(MED12):c.3567G>T (p.Gln1189His)
|
rs2147804945
|
|
|
NM_005120.3(MED12):c.3577+12T>C
|
|
|
|
NM_005120.3(MED12):c.3578-11G>A
|
|
|
|
NM_005120.3(MED12):c.3578-11G>T
|
|
|
|
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
|
|
|
|
NM_005120.3(MED12):c.3582G>A (p.Lys1194=)
|
rs1060504499
|
|
|
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)
|
rs1556336812
|
|
|
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys)
|
|
|
|
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
|
|
|
|
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
|
|
|
|
NM_005120.3(MED12):c.3618C>T (p.His1206=)
|
|
|
|
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val)
|
rs2092311035
|
|
|
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
|
|
|
|
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
|
|
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
|
NM_005120.3(MED12):c.3654A>G (p.Gly1218=)
|
|
|
|
NM_005120.3(MED12):c.3657C>T (p.Ala1219=)
|
|
|
|
NM_005120.3(MED12):c.3691+10T>C
|
|
|
|
NM_005120.3(MED12):c.3691+9G>A
|
|
|
|
NM_005120.3(MED12):c.3691+9dup
|
rs966516434
|
|
|
NM_005120.3(MED12):c.3692-16C>T
|
rs2147807080
|
|
|
NM_005120.3(MED12):c.3692-17C>T
|
|
|
|
NM_005120.3(MED12):c.3692-20C>T
|
|
|
|
NM_005120.3(MED12):c.3692-5C>T
|
|
|
|
NM_005120.3(MED12):c.369C>T (p.Thr123=)
|
rs769484204
|
|
|
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
|
|
|
|
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
|
|
|
|
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
|
|
|
|
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
|
|
|
|
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg)
|
rs1459632977
|
|
|
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del)
|
rs1602300077
|
|
|
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)
|
rs776373565
|
|
|
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val)
|
rs2147807429
|
|
|
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
|
|
|
|
NM_005120.3(MED12):c.3789G>C (p.Gln1263His)
|
|
|
|
NM_005120.3(MED12):c.378C>T (p.Leu126=)
|
|
|
|
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
|
|
|
|
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His)
|
rs2147807577
|
|
|
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser)
|
|
|
|
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val)
|
|
|
|
NM_005120.3(MED12):c.3807T>C (p.Ser1269=)
|
rs1319771105
|
|
|
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
|
|
|
|
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly)
|
rs2147807641
|
|
|
NM_005120.3(MED12):c.3823C>T (p.Leu1275=)
|
|
|
|
NM_005120.3(MED12):c.3861C>T (p.Cys1287=)
|
|
|
|
NM_005120.3(MED12):c.3867+10_3867+11del
|
rs2147807790
|
|
|
NM_005120.3(MED12):c.3868-11A>G
|
|
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
|
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
|
|
|
|
NM_005120.3(MED12):c.3934T>C (p.Leu1312=)
|
rs1406760316
|
|
|
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
|
|
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
|
NM_005120.3(MED12):c.3951G>A (p.Ala1317=)
|
|
|
|
NM_005120.3(MED12):c.3951G>T (p.Ala1317=)
|
rs755194632
|
|
|
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys)
|
rs901783069
|
|
|
NM_005120.3(MED12):c.3956G>A (p.Arg1319His)
|
rs1421325265
|
|
|
NM_005120.3(MED12):c.3960C>T (p.Leu1320=)
|
|
|
|
NM_005120.3(MED12):c.397-7C>T
|
rs2092285587
|
|
|
NM_005120.3(MED12):c.397-8C>T
|
|
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
|
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
|
|
|
|
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
|
|
|
|
NM_005120.3(MED12):c.399C>A (p.Val133=)
|
rs754050535
|
|
|
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp)
|
rs2147808786
|
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
|
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
|
|
|
|
NM_005120.3(MED12):c.4047+13C>T
|
|
|
|
NM_005120.3(MED12):c.4047+20G>A
|
|
|
|
NM_005120.3(MED12):c.4048-11C>G
|
|
|
|
NM_005120.3(MED12):c.4048-11dup
|
rs1213691583
|
|
|
NM_005120.3(MED12):c.4048-1G>A
|
rs2092317530
|
|
|
NM_005120.3(MED12):c.4048-20G>T
|
|
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
|
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
|
|
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
|
NM_005120.3(MED12):c.4074G>A (p.Gln1358=)
|
rs2147811874
|
|
|
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr)
|
|
|
|
NM_005120.3(MED12):c.4080C>T (p.Ser1360=)
|
rs2147811888
|
|
|
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
|
|
|
|
NM_005120.3(MED12):c.4087C>T (p.Leu1363=)
|
|
|
|
NM_005120.3(MED12):c.4116C>T (p.Asn1372=)
|
|
|
|
NM_005120.3(MED12):c.4120-17C>A
|
|
|
|
NM_005120.3(MED12):c.4120-5C>T
|
rs2147813260
|
|
|
NM_005120.3(MED12):c.4120-7T>A
|
|
|
|
NM_005120.3(MED12):c.4120-7T>C
|
rs2147813240
|
|
|
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
|
|
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
|
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
|
|
|
|
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
|
|
|
|
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
|
|
|
|
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn)
|
rs2147813483
|
|
|
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr)
|
rs2147813494
|
|
|
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg)
|
rs2092319173
|
|
|
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu)
|
|
|
|
NM_005120.3(MED12):c.4245T>C (p.Pro1415=)
|
rs2147813683
|
|
|
NM_005120.3(MED12):c.4254-11_4254-8del
|
|
|
|
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro)
|
rs2147814288
|
|
|
NM_005120.3(MED12):c.4260A>G (p.Leu1420=)
|
rs34299769
|
|
|
NM_005120.3(MED12):c.4290C>T (p.Pro1430=)
|
rs2147814427
|
|
|
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
|
|
|
|
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
|
|
|
|
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
|
|
|
|
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu)
|
rs2147814559
|
|
|
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
|
|
|
|
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
|
|
|
|
NM_005120.3(MED12):c.4415+11T>A
|
|
|
|
NM_005120.3(MED12):c.4415+9G>A
|
|
|
|
NM_005120.3(MED12):c.4416-13C>T
|
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insC
|
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC
|
|
|
|
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC
|
rs58328145
|
|
|
NM_005120.3(MED12):c.4416-20C>T
|
|
|
|
NM_005120.3(MED12):c.4416-42_4416-9del
|
|
|
|
NM_005120.3(MED12):c.4416-7T>A
|
|
|
|
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
|
|
|
|
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
|
|
|
|
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys)
|
rs759105512
|
|
|
NM_005120.3(MED12):c.4488C>A (p.Arg1496=)
|
|
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
|
NM_005120.3(MED12):c.4491G>A (p.Glu1497=)
|
|
|
|
NM_005120.3(MED12):c.4509C>T (p.Leu1503=)
|
rs2147817069
|
|
|
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=)
|
rs2092322482
|
|
|
NM_005120.3(MED12):c.4527+14G>A
|
|
|
|
NM_005120.3(MED12):c.4527+16C>T
|
|
|
|
NM_005120.3(MED12):c.4527+18A>G
|
|
|
|
NM_005120.3(MED12):c.4527+18A>T
|
|
|
|
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
|
|
|
|
NM_005120.3(MED12):c.4543C>A (p.Arg1515=)
|
|
|
|
NM_005120.3(MED12):c.454C>T (p.Pro152Ser)
|
rs2147774389
|
|
|
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
|
|
|
|
NM_005120.3(MED12):c.4584T>C (p.Leu1528=)
|
rs1220815401
|
|
|
NM_005120.3(MED12):c.4593G>A (p.Glu1531=)
|
|
|
|
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp)
|
rs2092323072
|
|
|
NM_005120.3(MED12):c.4617+13G>C
|
|
|
|
NM_005120.3(MED12):c.4618-13G>T
|
|
|
|
NM_005120.3(MED12):c.4618-19C>T
|
|
|
|
NM_005120.3(MED12):c.4618-7C>T
|
|
|
|
NM_005120.3(MED12):c.4623G>A (p.Gly1541=)
|
|
|
|
NM_005120.3(MED12):c.4638G>A (p.Thr1546=)
|
rs980389482
|
|
|
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
|
|
|
|
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)
|
rs1375497967
|
|
|
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
|
|
|
|
NM_005120.3(MED12):c.4662C>A (p.Thr1554=)
|
|
|
|
NM_005120.3(MED12):c.466G>A (p.Ala156Thr)
|
rs2147774436
|
|
|
NM_005120.3(MED12):c.46C>A (p.Arg16=)
|
|
|
|
NM_005120.3(MED12):c.4701C>T (p.Ser1567=)
|
|
|
|
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
|
|
|
|
NM_005120.3(MED12):c.4727+17C>T
|
|
|
|
NM_005120.3(MED12):c.4727+18G>A
|
|
|
|
NM_005120.3(MED12):c.4728-6T>A
|
|
|
|
NM_005120.3(MED12):c.4728-9C>T
|
|
|
|
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
|
|
|
|
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
|
|
|
|
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu)
|
rs767396596
|
|
|
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
|
|
|
|
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser)
|
rs2147822394
|
|
|
NM_005120.3(MED12):c.4779A>G (p.Thr1593=)
|
|
|
|
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
|
|
|
|
NM_005120.3(MED12):c.4806G>A (p.Ser1602=)
|
rs755218771
|
|
|
NM_005120.3(MED12):c.4806G>C (p.Ser1602=)
|
rs755218771
|
|
|
NM_005120.3(MED12):c.4806G>T (p.Ser1602=)
|
rs755218771
|
|
|
NM_005120.3(MED12):c.4816A>G (p.Met1606Val)
|
|
|
|
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
|
|
|
|
NM_005120.3(MED12):c.4863+7A>G
|
rs2147822616
|
|
|
NM_005120.3(MED12):c.4864-12del
|
|
|
|
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
|
|
|
|
NM_005120.3(MED12):c.489C>A (p.Thr163=)
|
|
|
|
NM_005120.3(MED12):c.4902G>A (p.Lys1634=)
|
|
|
|
NM_005120.3(MED12):c.4914G>A (p.Leu1638=)
|
rs2092328932
|
|
|
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln)
|
rs2092328967
|
|
|
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser)
|
|
|
|
NM_005120.3(MED12):c.4980C>T (p.Thr1660=)
|
rs2147823550
|
|
|
NM_005120.3(MED12):c.4995T>C (p.Ile1665=)
|
|
|
|
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn)
|
rs779481901
|
|
|
NM_005120.3(MED12):c.5025+10A>G
|
|
|
|
NM_005120.3(MED12):c.5025+11T>C
|
|
|
|
NM_005120.3(MED12):c.5025+1G>C
|
|
|
|
NM_005120.3(MED12):c.5025+20C>T
|
|
|
|
NM_005120.3(MED12):c.5026-4G>T
|
|
|
|
NM_005120.3(MED12):c.503C>T (p.Ala168Val)
|
rs1602294043
|
|
|
NM_005120.3(MED12):c.5088G>T (p.Pro1696=)
|
|
|
|
NM_005120.3(MED12):c.5142G>A (p.Val1714=)
|
rs2147826171
|
|
|
NM_005120.3(MED12):c.5172G>C (p.Leu1724=)
|
rs1602304398
|
|
|
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
|
|
|
|
NM_005120.3(MED12):c.5184A>G (p.Thr1728=)
|
|
|
|
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)
|
rs1569482278
|
|
|
NM_005120.3(MED12):c.5205C>G (p.Arg1735=)
|
rs747836622
|
|
|
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu)
|
rs2147826599
|
|
|
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln)
|
rs748064846
|
|
|
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)
|
rs748064846
|
|
|
NM_005120.3(MED12):c.5253G>C (p.Pro1751=)
|
|
|
|
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
|
|
|
|
NM_005120.3(MED12):c.5268G>T (p.Leu1756=)
|
rs1375174608
|
|
|
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
|
|
|
|
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp)
|
|
|
|
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
|
|
|
|
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)
|
rs1295791827
|
|
|
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
|
|
|
|
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile)
|
rs1556338856
|
|
|
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
|
|
|
|
NM_005120.3(MED12):c.5345G>A (p.Arg1782His)
|
rs1060502167
|
|
|
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
|
|
|
|
NM_005120.3(MED12):c.5349G>A (p.Lys1783=)
|
|
|
|
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
|
|
|
|
NM_005120.3(MED12):c.536A>G (p.His179Arg)
|
rs2092285751
|
|
|
NM_005120.3(MED12):c.5370G>A (p.Lys1790=)
|
|
|
|
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
|
|
|
|
NM_005120.3(MED12):c.5379C>T (p.Ser1793=)
|
|
|
|
NM_005120.3(MED12):c.5400+11C>T
|
|
|
|
NM_005120.3(MED12):c.5400+15C>T
|
rs1157498636
|
|
|
NM_005120.3(MED12):c.5400+16G>A
|
|
|
|
NM_005120.3(MED12):c.5400+2T>C
|
rs2147827179
|
|
|
NM_005120.3(MED12):c.5400+4A>G
|
|
|
|
NM_005120.3(MED12):c.5400+6C>A
|
|
|
|
NM_005120.3(MED12):c.5400+9C>T
|
|
|
|
NM_005120.3(MED12):c.5401-3C>A
|
rs1180673067
|
|
|
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
|
|
|
|
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu)
|
rs2147827854
|
|
|
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu)
|
rs368093012
|
|
|
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp)
|
rs372271659
|
|
|
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)
|
rs1432487094
|
|
|
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
|
|
|
|
NM_005120.3(MED12):c.543C>T (p.Asp181=)
|
|
|
|
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
|
|
|
|
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
|
|
|
|
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val)
|
|
|
|
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr)
|
rs2092334189
|
|
|
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
|
|
|
|
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
|
|
|
|
NM_005120.3(MED12):c.553+13T>C
|
rs2147774701
|
|
|
NM_005120.3(MED12):c.553+17dup
|
|
|
|
NM_005120.3(MED12):c.553+9C>T
|
rs1602294060
|
|
|
NM_005120.3(MED12):c.5552-20C>T
|
|
|
|
NM_005120.3(MED12):c.5552-3C>T
|
|
|
|
NM_005120.3(MED12):c.5552-4T>A
|
rs2147828853
|
|
|
NM_005120.3(MED12):c.5580T>A (p.Pro1860=)
|
|
|
|
NM_005120.3(MED12):c.5616A>G (p.Pro1872=)
|
rs750250372
|
|
|
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
|
|
|
|
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
|
|
|
|
NM_005120.3(MED12):c.5655C>T (p.Val1885=)
|
rs1556339100
|
|
|
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
|
|
|
|
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
|
|
|
|
NM_005120.3(MED12):c.5670C>T (p.Pro1890=)
|
rs2147829327
|
|
|
NM_005120.3(MED12):c.567C>T (p.Ile189=)
|
|
|
|
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
|
|
|
|
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
|
|
|
|
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
|
|
|
|
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
|
|
|
|
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser)
|
|
|
|
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys)
|
rs2147829625
|
|
|
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu)
|
rs767294730
|
|
|
NM_005120.3(MED12):c.5745C>G (p.Leu1915=)
|
|
|
|
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg)
|
rs2147829667
|
|
|
NM_005120.3(MED12):c.5748+11T>G
|
|
|
|
NM_005120.3(MED12):c.5749-11T>G
|
|
|
|
NM_005120.3(MED12):c.5749-11del
|
rs2147830057
|
|
|
NM_005120.3(MED12):c.5749-15C>T
|
|
|
|
NM_005120.3(MED12):c.5749-17C>T
|
|
|
|
NM_005120.3(MED12):c.5749-20G>T
|
|
|
|
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
|
|
|
|
NM_005120.3(MED12):c.5754T>C (p.Ser1918=)
|
rs1602305150
|
|
|
NM_005120.3(MED12):c.5760C>T (p.Gly1920=)
|
rs1437807483
|
|
|
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu)
|
|
|
|
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro)
|
rs2147830190
|
|
|
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
|
|
|
|
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
|
|
|
|
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
|
|
|
|
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
|
|
|
|
NM_005120.3(MED12):c.5826+8C>T
|
rs2147830320
|
|
|
NM_005120.3(MED12):c.5827-15C>G
|
rs1234497074
|
|
|
NM_005120.3(MED12):c.5827-15C>T
|
|
|
|
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser)
|
rs2147830593
|
|
|
NM_005120.3(MED12):c.5841T>C (p.Tyr1947=)
|
|
|
|
NM_005120.3(MED12):c.5849A>T (p.His1950Leu)
|
rs2092336344
|
|
|
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
|
|
|
|
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
|
|
|
|
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr)
|
rs2092336411
|
|
|
NM_005120.3(MED12):c.5897C>A (p.Pro1966His)
|
rs2147830796
|
|
|
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=)
|
rs2092336448
|
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
|
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly)
|
|
|
|
NM_005120.3(MED12):c.5928C>T (p.Thr1976=)
|
rs2147830882
|
|
|
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
|
|
|
|
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
|
|
|
|
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys)
|
rs1009330609
|
|
|
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
|
|
|
|
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
|
|
|
|
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro)
|
|
|
|
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser)
|
rs2092336678
|
|
|
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)
|
rs1556339260
|
|
|
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn)
|
|
|
|
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu)
|
rs2147831227
|
|
|
NM_005120.3(MED12):c.6022C>A (p.His2008Asn)
|
rs2147831234
|
|
|
NM_005120.3(MED12):c.6023A>G (p.His2008Arg)
|
|
|
|
NM_005120.3(MED12):c.6024T>C (p.His2008=)
|
|
|
|
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
|
|
|
|
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala)
|
rs777453338
|
|
|
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
|
|
|
|
NM_005120.3(MED12):c.6044+15G>C
|
rs2147831315
|
|
|
NM_005120.3(MED12):c.6045-10A>G
|
|
|
|
NM_005120.3(MED12):c.6045-13C>G
|
|
|
|
NM_005120.3(MED12):c.6045-7T>G
|
|
|
|
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu)
|
rs2092344632
|
|
|
NM_005120.3(MED12):c.6048T>C (p.Phe2016=)
|
|
|
|
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
|
|
|
|
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
|
|
|
|
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
|
|
|
|
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
|
|
|
|
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
|
|
|
|
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile)
|
|
|
|
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala)
|
rs2092344746
|
|
|
NM_005120.3(MED12):c.60G>A (p.Gly20=)
|
|
|
|
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr)
|
rs1602306821
|
|
|
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
|
|
|
|
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
|
|
|
|
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
|
|
|
|
NM_005120.3(MED12):c.6114C>T (p.Val2038=)
|
|
|
|
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
|
|
|
|
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
|
|
|
|
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
|
|
|
|
NM_005120.3(MED12):c.6138C>T (p.Ala2046=)
|
rs2147838956
|
|
|
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
|
|
|
|
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
|
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
|
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del)
|
rs769857818
|
|
|
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup)
|
rs769857818
|
|
|
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del)
|
rs762261992
|
|
|
NM_005120.3(MED12):c.6165GCAACAGCA[3] (p.Gln2074_Gln2076dup)
|
rs762261992
|
|
|
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del)
|
|
|
|
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)
|
rs1556334331
|
|
|
NM_005120.3(MED12):c.616C>T (p.Arg206Trp)
|
|
|
|
NM_005120.3(MED12):c.6177A>G (p.Gln2059=)
|
rs775267316
|
|
|
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)
|
rs773709991
|
|
|
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del)
|
rs753370104
|
|
|
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs753370104
|
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
|
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup)
|
rs2147839452
|
|
|
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del)
|
rs754533796
|
|
|
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
|
|
|
|
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup)
|
rs754533796
|
|
|
NM_005120.3(MED12):c.6191_6192insACAGCAACA (p.Gln2074_Gln2076dup)
|
rs752416697
|
|
|
NM_005120.3(MED12):c.6195G>A (p.Gln2065=)
|
rs1001762438
|
|
|
NM_005120.3(MED12):c.6198G>A (p.Gln2066=)
|
|
|
|
NM_005120.3(MED12):c.6201ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs758203078
|
|
|
NM_005120.3(MED12):c.6204G>A (p.Gln2068=)
|
rs1283568825
|
|
|
NM_005120.3(MED12):c.6207A>G (p.Gln2069=)
|
|
|
|
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6208CAG[10] (p.Gln2074_Gln2076dup)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
|
NM_005120.3(MED12):c.6210G>A (p.Gln2070=)
|
rs1229904793
|
|
|
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln)
|
rs1602306967
|
|
|
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del)
|
rs786200971
|
|
|
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
|
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup)
|
rs786200971
|
|
|
NM_005120.3(MED12):c.6264G>A (p.Leu2088=)
|
|
|
|
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln)
|
rs1001050248
|
|
|
NM_005120.3(MED12):c.6267+3A>C
|
rs2092345559
|
|
|
NM_005120.3(MED12):c.6268-17C>G
|
|
|
|
NM_005120.3(MED12):c.6268-3T>C
|
|
|
|
NM_005120.3(MED12):c.6268-7C>G
|
|
|
|
NM_005120.3(MED12):c.6268-7del
|
rs2147841483
|
|
|
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
|
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
|
|
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
|
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
|
|
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup)
|
rs766775649
|
|
|
NM_005120.3(MED12):c.6294G>A (p.Gln2098=)
|
rs1408739478
|
|
|
NM_005120.3(MED12):c.6297G>A (p.Gln2099=)
|
rs1480313864
|
|
|
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup)
|
rs1425637621
|
|
|
NM_005120.3(MED12):c.629C>T (p.Ala210Val)
|
|
|
|
NM_005120.3(MED12):c.6300G>A (p.Gln2100=)
|
rs1556340080
|
|
|
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup)
|
rs2092346839
|
|
|
NM_005120.3(MED12):c.6303G>A (p.Gln2101=)
|
rs1490399010
|
|
|
NM_005120.3(MED12):c.6306G>A (p.Gln2102=)
|
|
|
|
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del)
|
rs764789036
|
|
|
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs764789036
|
|
|
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup)
|
rs2147841816
|
|
|
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
|
|
|
|
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
|
|
|
|
NM_005120.3(MED12):c.6321G>A (p.Gln2107=)
|
rs778103349
|
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
|
NM_005120.3(MED12):c.6324G>A (p.Gln2108=)
|
rs749807888
|
|
|
NM_005120.3(MED12):c.6333G>A (p.Gln2111=)
|
rs1556340108
|
|
|
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)
|
rs1353930135
|
|
|
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln)
|
|
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
|
NM_005120.3(MED12):c.6351G>A (p.Gln2117=)
|
rs1175039083
|
|
|
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
|
rs1433422316
|
|
|
NM_005120.3(MED12):c.6360G>A (p.Gln2120=)
|
rs779631682
|
|
|
NM_005120.3(MED12):c.6360G>C (p.Gln2120His)
|
|
|
|
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
|
|
|
|
NM_005120.3(MED12):c.6372G>A (p.Ala2124=)
|
|
|
|
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)
|
rs1569482811
|
|
|
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
|
|
|
|
NM_005120.3(MED12):c.6393C>G (p.Pro2131=)
|
rs2147842475
|
|
|
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
|
|
|
|
NM_005120.3(MED12):c.6408+16C>T
|
rs1057522248
|
|
|
NM_005120.3(MED12):c.6408+19C>T
|
|
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
|
NM_005120.3(MED12):c.6408+22del
|
|
|
|
NM_005120.3(MED12):c.6408+9_6408+12del
|
|
|
|
NM_005120.3(MED12):c.6409-12A>G
|
|
|
|
NM_005120.3(MED12):c.6409-14C>G
|
|
|
|
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
|
|
|
|
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
|
|
|
|
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
|
|
|
|
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
|
|
|
|
NM_005120.3(MED12):c.6435C>T (p.Thr2145=)
|
|
|
|
NM_005120.3(MED12):c.6477A>G (p.Gln2159=)
|
|
|
|
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
|
|
|
|
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
|
|
|
|
NM_005120.3(MED12):c.6490+10C>T
|
|
|
|
NM_005120.3(MED12):c.6490+6C>T
|
rs2147845031
|
|
|
NM_005120.3(MED12):c.6491-20T>C
|
|
|
|
NM_005120.3(MED12):c.6495C>A (p.Thr2165=)
|
rs2147845582
|
|
|
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys)
|
|
|
|
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
|
|
|
|
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
|
|
|
|
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
|
|
|
|
NM_005120.3(MED12):c.6527G>A (p.Arg2176His)
|
|
|
|
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu)
|
rs2092350107
|
|
|
NM_005120.3(MED12):c.658G>C (p.Gly220Arg)
|
rs2147777706
|
|
|
NM_005120.3(MED12):c.669C>G (p.Pro223=)
|
rs2092288251
|
|
|
NM_005120.3(MED12):c.66C>A (p.Pro22=)
|
rs2092281557
|
|
|
NM_005120.3(MED12):c.691C>T (p.Arg231Trp)
|
|
|
|
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
|
|
|
|
NM_005120.3(MED12):c.6G>T (p.Ala2=)
|
|
|
|
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
|
|
|
|
NM_005120.3(MED12):c.705C>T (p.Tyr235=)
|
rs2147777898
|
|
|
NM_005120.3(MED12):c.706A>G (p.Thr236Ala)
|
rs2147777907
|
|
|
NM_005120.3(MED12):c.708C>G (p.Thr236=)
|
rs34668206
|
|
|
NM_005120.3(MED12):c.70G>A (p.Val24Ile)
|
rs2092281566
|
|
|
NM_005120.3(MED12):c.715C>G (p.Leu239Val)
|
|
|
|
NM_005120.3(MED12):c.726C>T (p.Phe242=)
|
|
|
|
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
|
|
|
|
NM_005120.3(MED12):c.735+13G>T
|
|
|
|
NM_005120.3(MED12):c.736-3T>C
|
rs2092288995
|
|
|
NM_005120.3(MED12):c.751A>C (p.Arg251=)
|
|
|
|
NM_005120.3(MED12):c.772G>T (p.Val258Leu)
|
|
|
|
NM_005120.3(MED12):c.789G>A (p.Glu263=)
|
|
|
|
NM_005120.3(MED12):c.795C>T (p.Ile265=)
|
|
|
|
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
|
|
|
|
NM_005120.3(MED12):c.82G>A (p.Asp28Asn)
|
|
|
|
NM_005120.3(MED12):c.831G>A (p.Leu277=)
|
rs2092289079
|
|
|
NM_005120.3(MED12):c.846+10G>A
|
|
|
|
NM_005120.3(MED12):c.846+20T>C
|
|
|
|
NM_005120.3(MED12):c.846+3A>T
|
|
|
|
NM_005120.3(MED12):c.846+6dup
|
|
|
|
NM_005120.3(MED12):c.847-12G>A
|
|
|
|
NM_005120.3(MED12):c.85C>A (p.Pro29Thr)
|
rs2147767136
|
|
|
NM_005120.3(MED12):c.876C>T (p.Tyr292=)
|
|
|
|
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
|
|
|
|
NM_005120.3(MED12):c.884G>A (p.Arg295His)
|
|
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
|
NM_005120.3(MED12):c.89A>G (p.Lys30Arg)
|
rs2147767167
|
|
|
NM_005120.3(MED12):c.903T>C (p.Cys301=)
|
|
|
|
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
|
|
|
|
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
|
|
|
|
NM_005120.3(MED12):c.913C>T (p.Leu305=)
|
|
|
|
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
|
|
|
|
NM_005120.3(MED12):c.934G>A (p.Val312Met)
|
rs377403264
|
|
|
NM_005120.3(MED12):c.938G>A (p.Ser313Asn)
|
rs1317622485
|
|
|
NM_005120.3(MED12):c.941G>A (p.Ser314Asn)
|
|
|
|
NM_005120.3(MED12):c.945C>T (p.His315=)
|
|
|
|
NM_005120.3(MED12):c.954T>C (p.His318=)
|
|
|
|
NM_005120.3(MED12):c.958A>G (p.Ile320Val)
|
rs781192327
|
|
|
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
|
|
|
|
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
|
|
|
|
NM_005120.3(MED12):c.965C>T (p.Ala322Val)
|
rs2092289745
|
|
|
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
|
|
|
|
NM_005120.3(MED12):c.96G>A (p.Lys32=)
|
rs2147767218
|
|
|
NM_005120.3(MED12):c.982C>T (p.Leu328=)
|
|
|
|
NM_005120.3(MED12):c.988A>C (p.Thr330Pro)
|
rs2147780054
|
|
|
NM_005120.3(MED12):c.99+9G>A
|
|
|
|
NM_005120.3(MED12):c.993C>T (p.Thr331=)
|
|
|
|
NM_005120.3(MED12):c.998C>T (p.Ala333Val)
|
|
|
|
NM_005120.3(MED12):c.99G>A (p.Glu33=)
|
|
|
|
NM_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
|
NM_005334.3(HCFC1):c.1084+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-17A>G
|
|
|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
|
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
|
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
|
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
|
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met)
|
rs782132752
|
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
|
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
|
|
|
|
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
|
rs2065413556
|
|
|
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
|
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
|
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
|
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
|
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
|
|
|
|
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
|
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
|
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|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
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|
|
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
|
rs782364666
|
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
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NM_005334.3(HCFC1):c.1444+14C>T
|
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|
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NM_005334.3(HCFC1):c.1444+18G>A
|
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|
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NM_005334.3(HCFC1):c.1445-11T>C
|
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NM_005334.3(HCFC1):c.1445-17G>T
|
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NM_005334.3(HCFC1):c.1445-20C>G
|
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NM_005334.3(HCFC1):c.1445-7T>C
|
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NM_005334.3(HCFC1):c.1445-8C>G
|
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|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
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|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
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|
|
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
|
|
|
|
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
|
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
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|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
|
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
|
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
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|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
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|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
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|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
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|
NM_005334.3(HCFC1):c.1606-16C>T
|
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|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
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|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
|
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
|
|
|
|
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
|
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
|
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn)
|
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
|
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
|
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
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|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
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|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
|
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
|
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
|
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
|
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
|
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
|
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
|
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2028+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2028+6T>C
|
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
|
|
|
|
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
|
|
|
|
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
|
|
|
|
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
|
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
|
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser)
|
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
|
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
|
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.2353+6G>A
|
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn)
|
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
|
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
|
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.2496+18G>A
|
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
|
NM_005334.3(HCFC1):c.2497-9G>T
|
|
|
|
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu)
|
|
|
|
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
|
|
|
|
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
|
|
|
|
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)
|
rs1131691855
|
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
|
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
|
|
|
|
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
|
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
|
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=)
|
rs782757775
|
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
|
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
|
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
|
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
|
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
|
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
|
rs949004802
|
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
|
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
|
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
|
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
|
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
|
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
|
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
|
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
|
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
|
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
|
|
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
|
NM_005334.3(HCFC1):c.2857-14G>C
|
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
|
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
|
|
|
|
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
|
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
|
|
|
|
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
|
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
|
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
|
|
|
|
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=)
|
rs782300483
|
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
|
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
|
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
|
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
|
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
|
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
|
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu)
|
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
|
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu)
|
rs2065360852
|
|
|
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
|
rs2065360777
|
|
|
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
|
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
|
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
|
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
|
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln)
|
|
|
|
NM_005334.3(HCFC1):c.342+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
|
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln)
|
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
|
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
|
|
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
|
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
|
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
|
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
|
|
|
|
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
|
|
|
|
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
|
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
|
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
|
|
|
|
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
|
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
|
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
|
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
|
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
|
|
|
|
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
|
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
|
|
|
|
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
|
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
|
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
|
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
|
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
|
|
|
|
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
|
rs2065352881
|
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
|
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
|
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
|
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1])
|
|
|
|
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala)
|
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
|
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser)
|
|
|
|
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
|
|
|
|
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
|
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
|
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg)
|
rs2148571129
|
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
|
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
|
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
|
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
|
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
|
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
|
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
|
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
|
|
|
|
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met)
|
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
|
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
|
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
|
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
|
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
|
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
|
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
|
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
|
|
|
|
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
|
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
|
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
|
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe)
|
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
|
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=)
|
rs782136932
|
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
|
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg)
|
rs2148569217
|
|
|
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
|
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
|
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
|
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
|
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
|
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-10G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
|
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
|
|
|
|
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
|
|
|
|
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
|
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
|
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
|
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
|
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
|
|
|
|
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
|
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
|
|
|
|
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
|
|
|
|
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
|
rs2065338418
|
|
|
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
|
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
|
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
|
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
|
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
|
|
|
|
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
|
|
|
|
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
|
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
|
NM_005334.3(HCFC1):c.4498-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu)
|
rs1277991321
|
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
|
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His)
|
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
|
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
|
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
|
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
|
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
|
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
|
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
|
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
|
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
|
|
|
|
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
|
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
|
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
|
|
|
|
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
|
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
|
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
|
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu)
|
rs1603294733
|
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
|
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
|
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met)
|
rs2148563099
|
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
|
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser)
|
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
|
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
|
|
|
|
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)
|
rs1275942023
|
|
|
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
|
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
|
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
|
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
|
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
|
|
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
|
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
|
|
|
|
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup)
|
rs2148561074
|
|
|
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
|
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
|
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
|
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
|
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
|
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
|
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
|
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
|
|
|
|
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
|
|
|
|
NM_005334.3(HCFC1):c.5260+16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
|
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
|
rs782384589
|
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
|
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
|
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-20G>A
|
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
|
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del)
|
rs782769309
|
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
|
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
|
rs2065309711
|
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.5517+20G>C
|
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
|
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
|
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
|
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
|
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
|
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
|
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
|
NM_005334.3(HCFC1):c.5703+18del
|
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
|
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
|
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
|
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
|
|
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
|
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
|
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
|
|
|
|
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
|
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
|
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
|
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+14G>T
|
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-12C>G
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-12C>T
|
rs181583112
|
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
|
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser)
|
|
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
|
NM_005334.3(HCFC1):c.6068+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.6069-20T>C
|
|
|
|
NM_005334.3(HCFC1):c.6069-8C>T
|
|
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
|
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr)
|
|
|
|
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
|
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
|
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
|
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
|
NM_005334.3(HCFC1):c.712+6C>T
|
rs1165322624
|
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
|
NM_005334.3(HCFC1):c.713-12G>A
|
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
|
NM_005334.3(HCFC1):c.713-18C>T
|
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
|
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
|
rs2065524568
|
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
|
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
|
|
|
|
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
|
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
|
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
|
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
|
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)
|
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
|
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
|
|
|
|
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
|
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
|
NM_005391.5(PDK3):c.*5C>T
|
|
|
|
NM_005391.5(PDK3):c.*7A>G
|
|
|
|
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr)
|
rs2148203320
|
|
|
NM_005391.5(PDK3):c.1032G>A (p.Leu344=)
|
|
|
|
NM_005391.5(PDK3):c.1032_1033del (p.Tyr345fs)
|
|
|
|
NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)
|
|
|
|
NM_005391.5(PDK3):c.106+11G>A
|
|
|
|
NM_005391.5(PDK3):c.106+18G>C
|
|
|
|
NM_005391.5(PDK3):c.1065C>G (p.Val355=)
|
|
|
|
NM_005391.5(PDK3):c.1065C>T (p.Val355=)
|
rs771588514
|
|
|
NM_005391.5(PDK3):c.1077+12del
|
rs1922655377
|
|
|
NM_005391.5(PDK3):c.1077+13A>T
|
|
|
|
NM_005391.5(PDK3):c.1077+13_1077+16del
|
rs1046476039
|
|
|
NM_005391.5(PDK3):c.1077+2T>G
|
|
|
|
NM_005391.5(PDK3):c.1077+7C>A
|
rs1254633549
|
|
|
NM_005391.5(PDK3):c.1078-3_1078-2dup
|
rs2148204260
|
|
|
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val)
|
rs1569228203
|
|
|
NM_005391.5(PDK3):c.1087dup (p.Ser363fs)
|
rs1569228214
|
|
|
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys)
|
rs1922715042
|
|
|
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro)
|
rs1922715462
|
|
|
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
|
|
|
|
NM_005391.5(PDK3):c.1161T>C (p.Asp387=)
|
rs2148204324
|
|
|
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
|
|
|
|
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg)
|
rs371788046
|
|
|
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
|
|
|
|
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
|
|
|
|
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?)
|
rs2148204361
|
|
|
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
|
|
|
|
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys)
|
rs2148188298
|
|
|
NM_005391.5(PDK3):c.138T>C (p.Tyr46=)
|
|
|
|
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp)
|
rs1940054079
|
|
|
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
|
|
|
|
NM_005391.5(PDK3):c.180A>G (p.Thr60=)
|
|
|
|
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys)
|
rs2148176546
|
|
|
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
|
|
|
|
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
|
|
|
|
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
|
|
|
|
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr)
|
rs2148188335
|
|
|
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
|
|
|
|
NM_005391.5(PDK3):c.248+3A>G
|
|
|
|
NM_005391.5(PDK3):c.249-15T>C
|
|
|
|
NM_005391.5(PDK3):c.249-8C>T
|
rs1231289510
|
|
|
NM_005391.5(PDK3):c.249-9del
|
rs374771377
|
|
|
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
|
|
|
|
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
|
|
|
|
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg)
|
rs2148190126
|
|
|
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
|
|
|
|
NM_005391.5(PDK3):c.321-11C>T
|
|
|
|
NM_005391.5(PDK3):c.321-3C>T
|
|
|
|
NM_005391.5(PDK3):c.327A>G (p.Leu109=)
|
rs187938221
|
|
|
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro)
|
rs2148191720
|
|
|
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
|
|
|
|
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
|
|
|
|
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
|
|
|
|
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
|
|
|
|
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
|
|
|
|
NM_005391.5(PDK3):c.402G>A (p.Lys134=)
|
|
|
|
NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)
|
|
|
|
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
|
|
|
|
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
|
|
|
|
NM_005391.5(PDK3):c.473G>A (p.Arg158His)
|
rs397515323
|
|
|
NM_005391.5(PDK3):c.485G>A (p.Arg162His)
|
rs867468579
|
|
|
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln)
|
rs2148176569
|
|
|
NM_005391.5(PDK3):c.505+3A>T
|
rs1921912997
|
|
|
NM_005391.5(PDK3):c.567C>T (p.Pro189=)
|
|
|
|
NM_005391.5(PDK3):c.577G>C (p.Val193Leu)
|
rs764909872
|
|
|
NM_005391.5(PDK3):c.595+20G>A
|
rs2148192422
|
|
|
NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
|
|
|
|
NM_005391.5(PDK3):c.597del (p.Asp199fs)
|
rs1569225940
|
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|
NM_005391.5(PDK3):c.608C>G (p.Thr203Arg)
|
rs1555949588
|
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NM_005391.5(PDK3):c.674-18T>C
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NM_005391.5(PDK3):c.674-5T>G
|
rs2148201118
|
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NM_005391.5(PDK3):c.681G>A (p.Ala227=)
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NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys)
|
rs2148201163
|
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NM_005391.5(PDK3):c.750+18A>G
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NM_005391.5(PDK3):c.750+20C>T
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NM_005391.5(PDK3):c.751-13C>A
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NM_005391.5(PDK3):c.780T>C (p.Tyr260=)
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NM_005391.5(PDK3):c.816C>A (p.Thr272=)
|
rs1393564034
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NM_005391.5(PDK3):c.852+18A>G
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NM_005391.5(PDK3):c.853-4G>A
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NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
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NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
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NM_005391.5(PDK3):c.896G>A (p.Arg299His)
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NM_005391.5(PDK3):c.940G>T (p.Glu314Ter)
|
rs1922567942
|
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NM_005391.5(PDK3):c.963+14A>C
|
rs2148201960
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NM_005391.5(PDK3):c.974G>T (p.Gly325Val)
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NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)
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NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)
|
rs1927055441
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NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
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NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
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NM_005765.3(ATP6AP2):c.168+15T>G
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NM_005765.3(ATP6AP2):c.168+3A>G
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NM_005765.3(ATP6AP2):c.168+7A>G
|
rs2146538326
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NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
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NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
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NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)
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NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)
|
rs2146539439
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NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
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NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu)
|
rs796052283
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NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)
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NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)
|
rs1926620037
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NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
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NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)
|
rs34217273
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NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)
|
rs1926621605
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NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)
|
rs770593270
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NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
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NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)
|
rs121918521
|
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NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
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NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
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NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)
|
rs1926309103
|
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NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
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NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
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NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)
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NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
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NM_005765.3(ATP6AP2):c.37+12G>A
|
rs2146534517
|
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NM_005765.3(ATP6AP2):c.37+15G>A
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NM_005765.3(ATP6AP2):c.37+17C>G
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NM_005765.3(ATP6AP2):c.37+18G>A
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NM_005765.3(ATP6AP2):c.37+5G>A
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NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
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NM_005765.3(ATP6AP2):c.397-16T>G
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NM_005765.3(ATP6AP2):c.397-9T>A
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NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)
|
rs1555977799
|
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NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)
|
rs2146542663
|
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NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=)
|
rs1555977800
|
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NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)
|
rs1926802970
|
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NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=)
|
rs1926803092
|
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NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)
|
rs2146542684
|
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NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)
|
rs866274169
|
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NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
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NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=)
|
rs2146542730
|
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NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)
|
rs1926552105
|
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|
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)
|
rs371701957
|
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NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
|
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|
NM_005765.3(ATP6AP2):c.534+10G>A
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NM_005765.3(ATP6AP2):c.534+10G>C
|
rs758140053
|
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NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)
|
rs773037776
|
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NM_005765.3(ATP6AP2):c.546C>T (p.Leu182=)
|
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NM_005765.3(ATP6AP2):c.589-19G>A
|
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NM_005765.3(ATP6AP2):c.589-6C>T
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NM_005765.3(ATP6AP2):c.594T>G (p.Ser198=)
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NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=)
|
rs2146543619
|
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NM_005765.3(ATP6AP2):c.60T>C (p.Ser20=)
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NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=)
|
rs1926856559
|
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NM_005765.3(ATP6AP2):c.6T>A (p.Ala2=)
|
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|
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)
|
rs2146543666
|
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NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
|
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NM_005765.3(ATP6AP2):c.735A>G (p.Gln245=)
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NM_005765.3(ATP6AP2):c.738+10A>T
|
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NM_005765.3(ATP6AP2):c.738+15G>A
|
rs777239225
|
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NM_005765.3(ATP6AP2):c.738+8T>A
|
rs2146543689
|
|
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NM_005765.3(ATP6AP2):c.739-5_739-4del
|
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NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)
|
rs2146544175
|
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NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
|
|
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|
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
|
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NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)
|
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NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
|
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NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)
|
rs2146544212
|
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NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)
|
rs1555978066
|
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|
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
|
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NM_005765.3(ATP6AP2):c.858+4A>G
|
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NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)
|
rs1555978069
|
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NM_005765.3(ATP6AP2):c.859-11C>G
|
rs767283025
|
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NM_005765.3(ATP6AP2):c.859-5T>C
|
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NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
|
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NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)
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NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
|
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NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)
|
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NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)
|
rs2146547241
|
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|
NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)
|
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|
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
|
|
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|
NM_005765.3(ATP6AP2):c.953C>A (p.Ala318Asp)
|
rs1555978614
|
|
|
NM_005765.3(ATP6AP2):c.954C>G (p.Ala318=)
|
|
|
|
NM_005765.3(ATP6AP2):c.961G>A (p.Val321Met)
|
rs2146547252
|
|
|
NM_005765.3(ATP6AP2):c.979A>G (p.Asn327Asp)
|
|
|
|
NM_005765.3(ATP6AP2):c.98G>A (p.Gly33Glu)
|
|
|
|
NM_006950.3(SYN1):c.1013A>G (p.Asn338Ser)
|
rs2057777720
|
|
|
NM_006950.3(SYN1):c.101C>T (p.Pro34Leu)
|
rs2147933524
|
|
|
NM_006950.3(SYN1):c.1025C>A (p.Ala342Glu)
|
|
|
|
NM_006950.3(SYN1):c.102G>A (p.Pro34=)
|
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|
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr)
|
rs2057777596
|
|
|
NM_006950.3(SYN1):c.1055+11C>T
|
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|
|
NM_006950.3(SYN1):c.1055+17C>G
|
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|
NM_006950.3(SYN1):c.1055+5G>A
|
rs1479589627
|
|
|
NM_006950.3(SYN1):c.1055+9C>T
|
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|
|
NM_006950.3(SYN1):c.1056-14_1056-8del
|
rs377385507
|
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|
NM_006950.3(SYN1):c.1056-20C>T
|
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|
NM_006950.3(SYN1):c.1077G>A (p.Thr359=)
|
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|
NM_006950.3(SYN1):c.1093G>A (p.Gly365Arg)
|
rs2147913172
|
|
|
NM_006950.3(SYN1):c.1110C>G (p.Cys370Trp)
|
rs141925310
|
|
|
NM_006950.3(SYN1):c.112_126del (p.His38_Ala42del)
|
rs2057941937
|
|
|
NM_006950.3(SYN1):c.1134G>A (p.Lys378=)
|
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|
|
NM_006950.3(SYN1):c.1149C>T (p.His383=)
|
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|
NM_006950.3(SYN1):c.1158+15G>T
|
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|
NM_006950.3(SYN1):c.1158+16G>A
|
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|
NM_006950.3(SYN1):c.1158+1G>T
|
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|
NM_006950.3(SYN1):c.1159-10C>T
|
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|
NM_006950.3(SYN1):c.1159-20G>A
|
rs1045349354
|
|
|
NM_006950.3(SYN1):c.1159-2A>G
|
|
|
|
NM_006950.3(SYN1):c.1159-6C>T
|
rs2057774148
|
|
|
NM_006950.3(SYN1):c.1161G>A (p.Val387=)
|
rs2057774095
|
|
|
NM_006950.3(SYN1):c.1176G>A (p.Met392Ile)
|
|
|
|
NM_006950.3(SYN1):c.117C>T (p.Ser39=)
|
|
|
|
NM_006950.3(SYN1):c.1200T>G (p.Asp400Glu)
|
rs2057773904
|
|
|
NM_006950.3(SYN1):c.1202A>T (p.Glu401Val)
|
|
|
|
NM_006950.3(SYN1):c.1208_1211del (p.Lys403fs)
|
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|
NM_006950.3(SYN1):c.120C>T (p.Pro40=)
|
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|
NM_006950.3(SYN1):c.1215C>A (p.Leu405=)
|
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|
NM_006950.3(SYN1):c.1218C>T (p.Ile406=)
|
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|
|
NM_006950.3(SYN1):c.1227C>A (p.Leu409=)
|
rs1603051010
|
|
|
NM_006950.3(SYN1):c.1227C>T (p.Leu409=)
|
rs1603051010
|
|
|
NM_006950.3(SYN1):c.1228G>A (p.Val410Met)
|
|
|
|
NM_006950.3(SYN1):c.1228G>T (p.Val410Leu)
|
|
|
|
NM_006950.3(SYN1):c.1236C>T (p.Asn412=)
|
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|
|
NM_006950.3(SYN1):c.1239G>A (p.Lys413=)
|
|
|
|
NM_006950.3(SYN1):c.1258C>G (p.Arg420Gly)
|
rs780269723
|
|
|
NM_006950.3(SYN1):c.1258_1261dup (p.Gln421fs)
|
rs2147912678
|
|
|
NM_006950.3(SYN1):c.1264C>A (p.Arg422=)
|
rs757027813
|
|
|
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
|
|
|
|
NM_006950.3(SYN1):c.1269G>T (p.Gln423His)
|
|
|
|
NM_006950.3(SYN1):c.1269_1270delinsTT (p.Gln423_Arg424delinsHisTrp)
|
rs2057773624
|
|
|
NM_006950.3(SYN1):c.1271G>A (p.Arg424Gln)
|
|
|
|
NM_006950.3(SYN1):c.1287del (p.Arg430fs)
|
|
|
|
NM_006950.3(SYN1):c.1305+14C>T
|
|
|
|
NM_006950.3(SYN1):c.1305+18G>A
|
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|
NM_006950.3(SYN1):c.1306-18T>C
|
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|
|
NM_006950.3(SYN1):c.1306-5C>T
|
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|
|
NM_006950.3(SYN1):c.1306-6C>T
|
|
|
|
NM_006950.3(SYN1):c.1306-9C>T
|
rs1603050792
|
|
|
NM_006950.3(SYN1):c.1310C>A (p.Pro437Gln)
|
|
|
|
NM_006950.3(SYN1):c.1319G>A (p.Gly440Glu)
|
rs1603050776
|
|
|
NM_006950.3(SYN1):c.1321G>A (p.Ala441Thr)
|
rs772106134
|
|
|
NM_006950.3(SYN1):c.1326G>A (p.Leu442=)
|
|
|
|
NM_006950.3(SYN1):c.132C>T (p.Pro44=)
|
|
|
|
NM_006950.3(SYN1):c.1330T>G (p.Leu444Val)
|
|
|
|
NM_006950.3(SYN1):c.1331_1336del (p.Leu444_Arg446delinsCys)
|
|
|
|
NM_006950.3(SYN1):c.1335C>T (p.Gly445=)
|
rs2147912475
|
|
|
NM_006950.3(SYN1):c.1338C>T (p.Arg446=)
|
|
|
|
NM_006950.3(SYN1):c.1342A>T (p.Thr448Ser)
|
|
|
|
NM_006950.3(SYN1):c.1354C>T (p.Pro452Ser)
|
rs2147912470
|
|
|
NM_006950.3(SYN1):c.1355C>T (p.Pro452Leu)
|
rs2147912468
|
|
|
NM_006950.3(SYN1):c.1363C>T (p.Pro455Ser)
|
rs1371497364
|
|
|
NM_006950.3(SYN1):c.1371T>C (p.Ala457=)
|
|
|
|
NM_006950.3(SYN1):c.1374G>A (p.Gln458=)
|
|
|
|
NM_006950.3(SYN1):c.1380A>T (p.Arg460=)
|
rs2147912444
|
|
|
NM_006950.3(SYN1):c.1383C>A (p.Pro461=)
|
|
|
|
NM_006950.3(SYN1):c.1385dup (p.Pro463fs)
|
rs2147912440
|
|
|
NM_006950.3(SYN1):c.1389A>C (p.Pro463=)
|
rs1435656023
|
|
|
NM_006950.3(SYN1):c.1389A>G (p.Pro463=)
|
|
|
|
NM_006950.3(SYN1):c.1394-10T>G
|
rs1603050623
|
|
|
NM_006950.3(SYN1):c.1394-13C>T
|
|
|
|
NM_006950.3(SYN1):c.1394-7C>A
|
rs1411087897
|
|
|
NM_006950.3(SYN1):c.1398C>T (p.Gly466=)
|
|
|
|
NM_006950.3(SYN1):c.139G>A (p.Gly47Arg)
|
rs1477670336
|
|
|
NM_006950.3(SYN1):c.1404A>C (p.Pro468=)
|
|
|
|
NM_006950.3(SYN1):c.1410G>A (p.Pro470=)
|
|
|
|
NM_006950.3(SYN1):c.1414C>T (p.Pro472Ser)
|
rs797046019
|
|
|
NM_006950.3(SYN1):c.141G>C (p.Gly47=)
|
rs2057941844
|
|
|
NM_006950.3(SYN1):c.141G>T (p.Gly47=)
|
|
|
|
NM_006950.3(SYN1):c.1435C>A (p.Pro479Thr)
|
|
|
|
NM_006950.3(SYN1):c.1439C>T (p.Pro480Leu)
|
|
|
|
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
|
|
|
|
NM_006950.3(SYN1):c.1460C>T (p.Pro487Leu)
|
rs2147912337
|
|
|
NM_006950.3(SYN1):c.1470GCA[1] (p.Gln491del)
|
rs775858141
|
|
|
NM_006950.3(SYN1):c.1471del (p.Gln491fs)
|
rs2147912333
|
|
|
NM_006950.3(SYN1):c.1490G>A (p.Gly497Glu)
|
rs2147912324
|
|
|
NM_006950.3(SYN1):c.150T>G (p.Thr50=)
|
rs1556861816
|
|
|
NM_006950.3(SYN1):c.1513C>T (p.Pro505Ser)
|
|
|
|
NM_006950.3(SYN1):c.1516C>T (p.Gln506Ter)
|
rs1603050544
|
|
|
NM_006950.3(SYN1):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_006950.3(SYN1):c.1538C>T (p.Ser513Leu)
|
|
|
|
NM_006950.3(SYN1):c.1554C>T (p.Pro518=)
|
|
|
|
NM_006950.3(SYN1):c.1556C>T (p.Ala519Val)
|
|
|
|
NM_006950.3(SYN1):c.1557G>A (p.Ala519=)
|
|
|
|
NM_006950.3(SYN1):c.1557G>T (p.Ala519=)
|
|
|
|
NM_006950.3(SYN1):c.1568C>T (p.Ala523Val)
|
rs1341949224
|
|
|
NM_006950.3(SYN1):c.1571C>T (p.Pro524Leu)
|
rs2057770771
|
|
|
NM_006950.3(SYN1):c.1577C>T (p.Thr526Ile)
|
rs2147912281
|
|
|
NM_006950.3(SYN1):c.1589G>A (p.Gly530Asp)
|
|
|
|
NM_006950.3(SYN1):c.1592G>A (p.Arg531His)
|
rs2147912269
|
|
|
NM_006950.3(SYN1):c.1594C>T (p.Gln532Ter)
|
|
|
|
NM_006950.3(SYN1):c.1600C>T (p.Arg534Trp)
|
|
|
|
NM_006950.3(SYN1):c.1609G>A (p.Ala537Thr)
|
rs1603050507
|
|
|
NM_006950.3(SYN1):c.1611G>A (p.Ala537=)
|
rs2147912259
|
|
|
NM_006950.3(SYN1):c.1614A>T (p.Gly538=)
|
|
|
|
NM_006950.3(SYN1):c.1629T>C (p.Pro543=)
|
rs1027134708
|
|
|
NM_006950.3(SYN1):c.1646C>T (p.Pro549Leu)
|
|
|
|
NM_006950.3(SYN1):c.1647C>T (p.Pro549=)
|
|
|
|
NM_006950.3(SYN1):c.1647_1650del (p.Ala550fs)
|
|
|
|
NM_006950.3(SYN1):c.1647_1650dup (p.Ser551fs)
|
|
|
|
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr)
|
rs397514680
|
|
|
NM_006950.3(SYN1):c.1648_1649delinsTT (p.Ala550Phe)
|
rs2057770383
|
|
|
NM_006950.3(SYN1):c.1654C>T (p.Pro552Ser)
|
|
|
|
NM_006950.3(SYN1):c.1655del (p.Pro552fs)
|
|
|
|
NM_006950.3(SYN1):c.1667G>T (p.Arg556Leu)
|
rs913197225
|
|
|
NM_006950.3(SYN1):c.1673C>T (p.Ala558Val)
|
rs2147912173
|
|
|
NM_006950.3(SYN1):c.1677C>G (p.Gly559=)
|
rs2147912166
|
|
|
NM_006950.3(SYN1):c.1677C>T (p.Gly559=)
|
rs2147912166
|
|
|
NM_006950.3(SYN1):c.1680C>A (p.Pro560=)
|
|
|
|
NM_006950.3(SYN1):c.1682C>G (p.Pro561Arg)
|
rs2147912162
|
|
|
NM_006950.3(SYN1):c.1682dup (p.Gln562fs)
|
rs2147912165
|
|
|
NM_006950.3(SYN1):c.1683A>G (p.Pro561=)
|
rs2147912160
|
|
|
NM_006950.3(SYN1):c.168G>C (p.Gly56=)
|
|
|
|
NM_006950.3(SYN1):c.169G>A (p.Val57Ile)
|
rs1200321961
|
|
|
NM_006950.3(SYN1):c.1704C>G (p.Ser568=)
|
|
|
|
NM_006950.3(SYN1):c.1711G>A (p.Gly571Ser)
|
rs1284009431
|
|
|
NM_006950.3(SYN1):c.1715C>A (p.Pro572Gln)
|
|
|
|
NM_006950.3(SYN1):c.1726A>G (p.Lys576Glu)
|
|
|
|
NM_006950.3(SYN1):c.1731C>T (p.Ala577=)
|
rs2147912133
|
|
|
NM_006950.3(SYN1):c.1739C>T (p.Ala580Val)
|
rs2057769764
|
|
|
NM_006950.3(SYN1):c.1754A>G (p.Gln585Arg)
|
|
|
|
NM_006950.3(SYN1):c.1759C>T (p.Arg587Cys)
|
|
|
|
NM_006950.3(SYN1):c.1764G>A (p.Gln588=)
|
|
|
|
NM_006950.3(SYN1):c.1782C>T (p.Pro594=)
|
rs2147912100
|
|
|
NM_006950.3(SYN1):c.1791A>G (p.Pro597=)
|
|
|
|
NM_006950.3(SYN1):c.1794C>G (p.Ala598=)
|
rs2057769499
|
|
|
NM_006950.3(SYN1):c.1815C>T (p.Ser605=)
|
rs1452773137
|
|
|
NM_006950.3(SYN1):c.1820C>A (p.Ala607Glu)
|
rs1339706473
|
|
|
NM_006950.3(SYN1):c.1820C>G (p.Ala607Gly)
|
|
|
|
NM_006950.3(SYN1):c.1821G>A (p.Ala607=)
|
|
|
|
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
|
|
|
|
NM_006950.3(SYN1):c.1822G>T (p.Gly608Cys)
|
|
|
|
NM_006950.3(SYN1):c.1837A>C (p.Thr613Pro)
|
rs1603050300
|
|
|
NM_006950.3(SYN1):c.1851C>A (p.Thr617=)
|
rs2147912062
|
|
|
NM_006950.3(SYN1):c.1855C>A (p.Gln619Lys)
|
rs1160768934
|
|
|
NM_006950.3(SYN1):c.185C>T (p.Ser62Phe)
|
|
|
|
NM_006950.3(SYN1):c.1864C>T (p.Arg622Trp)
|
|
|
|
NM_006950.3(SYN1):c.1869C>T (p.Pro623=)
|
|
|
|
NM_006950.3(SYN1):c.187C>G (p.Pro63Ala)
|
|
|
|
NM_006950.3(SYN1):c.1884C>T (p.Pro628=)
|
rs2147912043
|
|
|
NM_006950.3(SYN1):c.189G>A (p.Pro63=)
|
rs371739376
|
|
|
NM_006950.3(SYN1):c.189G>T (p.Pro63=)
|
rs371739376
|
|
|
NM_006950.3(SYN1):c.1905G>T (p.Gln635His)
|
|
|
|
NM_006950.3(SYN1):c.1941_1947dup (p.Ala650fs)
|
rs2147912005
|
|
|
NM_006950.3(SYN1):c.1944C>T (p.Ala648=)
|
rs1556857414
|
|
|
NM_006950.3(SYN1):c.1946C>T (p.Thr649Ile)
|
|
|
|
NM_006950.3(SYN1):c.1947C>A (p.Thr649=)
|
|
|
|
NM_006950.3(SYN1):c.1950C>T (p.Ala650=)
|
|
|
|
NM_006950.3(SYN1):c.1959G>A (p.Gly653=)
|
rs2147911994
|
|
|
NM_006950.3(SYN1):c.1964C>T (p.Pro655Leu)
|
rs1333198986
|
|
|
NM_006950.3(SYN1):c.1966C>T (p.Pro656Ser)
|
|
|
|
NM_006950.3(SYN1):c.1970A>C (p.His657Pro)
|
rs992542097
|
|
|
NM_006950.3(SYN1):c.1972C>T (p.Pro658Ser)
|
rs755832757
|
|
|
NM_006950.3(SYN1):c.1976A>G (p.Gln659Arg)
|
|
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
|
NM_006950.3(SYN1):c.1982+8_1982+20delinsT
|
|
|
|
NM_006950.3(SYN1):c.1982+9_1982+20del
|
|
|
|
NM_006950.3(SYN1):c.2023C>T (p.Pro675Ser)
|
rs2057764675
|
|
|
NM_006950.3(SYN1):c.2028C>T (p.Ala676=)
|
rs2057764630
|
|
|
NM_006950.3(SYN1):c.2044C>T (p.Leu682Phe)
|
rs2147911481
|
|
|
NM_006950.3(SYN1):c.236C>T (p.Ser79Leu)
|
|
|
|
NM_006950.3(SYN1):c.248_264del (p.Ala83fs)
|
rs2057941229
|
|
|
NM_006950.3(SYN1):c.249G>A (p.Ala83=)
|
rs780753887
|
|
|
NM_006950.3(SYN1):c.250G>A (p.Val84Ile)
|
|
|
|
NM_006950.3(SYN1):c.255G>A (p.Lys85=)
|
rs2147933415
|
|
|
NM_006950.3(SYN1):c.260C>A (p.Thr87Asn)
|
rs2147933414
|
|
|
NM_006950.3(SYN1):c.272C>T (p.Ala91Val)
|
rs2147933405
|
|
|
NM_006950.3(SYN1):c.301G>T (p.Gly101Cys)
|
|
|
|
NM_006950.3(SYN1):c.303C>T (p.Gly101=)
|
rs1603078601
|
|
|
NM_006950.3(SYN1):c.310G>A (p.Gly104Arg)
|
rs2057941013
|
|
|
NM_006950.3(SYN1):c.316G>A (p.Ala106Thr)
|
rs794726957
|
|
|
NM_006950.3(SYN1):c.338C>G (p.Ser113Cys)
|
|
|
|
NM_006950.3(SYN1):c.350T>C (p.Leu117Pro)
|
rs1556861785
|
|
|
NM_006950.3(SYN1):c.351G>T (p.Leu117=)
|
|
|
|
NM_006950.3(SYN1):c.377+4A>T
|
rs2147933325
|
|
|
NM_006950.3(SYN1):c.377+5G>A
|
|
|
|
NM_006950.3(SYN1):c.377+6C>A
|
|
|
|
NM_006950.3(SYN1):c.377+6C>G
|
rs1165500127
|
|
|
NM_006950.3(SYN1):c.378-14T>C
|
|
|
|
NM_006950.3(SYN1):c.378-16T>C
|
|
|
|
NM_006950.3(SYN1):c.378-18G>A
|
|
|
|
NM_006950.3(SYN1):c.378-19T>A
|
|
|
|
NM_006950.3(SYN1):c.378-1G>A
|
rs2057900552
|
|
|
NM_006950.3(SYN1):c.381A>G (p.Ala127=)
|
|
|
|
NM_006950.3(SYN1):c.42G>C (p.Met14Ile)
|
|
|
|
NM_006950.3(SYN1):c.432A>G (p.Glu144=)
|
rs1142635
|
|
|
NM_006950.3(SYN1):c.433_434del (p.Gln145fs)
|
rs2147928664
|
|
|
NM_006950.3(SYN1):c.436-4C>G
|
rs1603071933
|
|
|
NM_006950.3(SYN1):c.441A>G (p.Glu147=)
|
|
|
|
NM_006950.3(SYN1):c.462G>C (p.Val154=)
|
|
|
|
NM_006950.3(SYN1):c.472A>C (p.Asn158His)
|
rs759485248
|
|
|
NM_006950.3(SYN1):c.47A>G (p.Asn16Ser)
|
rs1289234549
|
|
|
NM_006950.3(SYN1):c.517_525del (p.Lys173_Val175del)
|
rs2147928561
|
|
|
NM_006950.3(SYN1):c.523G>A (p.Val175Met)
|
|
|
|
NM_006950.3(SYN1):c.527+11G>T
|
|
|
|
NM_006950.3(SYN1):c.527+18A>G
|
rs2147928548
|
|
|
NM_006950.3(SYN1):c.527+9A>T
|
rs2147928550
|
|
|
NM_006950.3(SYN1):c.527G>A (p.Arg176Gln)
|
|
|
|
NM_006950.3(SYN1):c.528-12C>T
|
|
|
|
NM_006950.3(SYN1):c.528-2A>T
|
rs1556860663
|
|
|
NM_006950.3(SYN1):c.539C>T (p.Pro180Leu)
|
rs773013704
|
|
|
NM_006950.3(SYN1):c.548T>C (p.Val183Ala)
|
|
|
|
NM_006950.3(SYN1):c.54A>G (p.Pro18=)
|
|
|
|
NM_006950.3(SYN1):c.553A>G (p.Ile185Val)
|
|
|
|
NM_006950.3(SYN1):c.554_555insA (p.Arg186fs)
|
|
|
|
NM_006950.3(SYN1):c.579A>G (p.Ala193=)
|
rs1556860653
|
|
|
NM_006950.3(SYN1):c.57_63del (p.Asn19fs)
|
|
|
|
NM_006950.3(SYN1):c.581G>A (p.Arg194His)
|
rs373152478
|
|
|
NM_006950.3(SYN1):c.592T>C (p.Tyr198His)
|
rs2057893070
|
|
|
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
|
|
|
|
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn)
|
rs1556860638
|
|
|
NM_006950.3(SYN1):c.645C>A (p.Ser215=)
|
rs1299304892
|
|
|
NM_006950.3(SYN1):c.645C>T (p.Ser215=)
|
|
|
|
NM_006950.3(SYN1):c.684+13A>C
|
|
|
|
NM_006950.3(SYN1):c.684+16G>A
|
|
|
|
NM_006950.3(SYN1):c.684+17G>T
|
|
|
|
NM_006950.3(SYN1):c.684+5_684+8del
|
|
|
|
NM_006950.3(SYN1):c.685-3T>C
|
rs2057892214
|
|
|
NM_006950.3(SYN1):c.685-4A>G
|
rs2147927610
|
|
|
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter)
|
rs2147927599
|
|
|
NM_006950.3(SYN1):c.701G>A (p.Arg234Gln)
|
rs2057892166
|
|
|
NM_006950.3(SYN1):c.707A>G (p.His236Arg)
|
|
|
|
NM_006950.3(SYN1):c.726A>G (p.Glu242=)
|
|
|
|
NM_006950.3(SYN1):c.744T>C (p.Asp248=)
|
|
|
|
NM_006950.3(SYN1):c.755A>T (p.Tyr252Phe)
|
rs2057891950
|
|
|
NM_006950.3(SYN1):c.756C>T (p.Tyr252=)
|
rs1556860614
|
|
|
NM_006950.3(SYN1):c.759C>G (p.Pro253=)
|
rs2147927565
|
|
|
NM_006950.3(SYN1):c.759C>T (p.Pro253=)
|
rs2147927565
|
|
|
NM_006950.3(SYN1):c.774+3G>A
|
rs2057891910
|
|
|
NM_006950.3(SYN1):c.775-14del
|
rs1381158508
|
|
|
NM_006950.3(SYN1):c.775-17T>C
|
rs2147913839
|
|
|
NM_006950.3(SYN1):c.775-3C>T
|
|
|
|
NM_006950.3(SYN1):c.780C>T (p.Ser260=)
|
|
|
|
NM_006950.3(SYN1):c.789G>C (p.Thr263=)
|
|
|
|
NM_006950.3(SYN1):c.789G>T (p.Thr263=)
|
rs754541700
|
|
|
NM_006950.3(SYN1):c.794C>T (p.Pro265Leu)
|
rs2057781537
|
|
|
NM_006950.3(SYN1):c.79C>T (p.Arg27Cys)
|
rs2057942233
|
|
|
NM_006950.3(SYN1):c.837+15G>A
|
|
|
|
NM_006950.3(SYN1):c.837+19T>C
|
|
|
|
NM_006950.3(SYN1):c.838-13C>T
|
|
|
|
NM_006950.3(SYN1):c.84G>A (p.Pro28=)
|
|
|
|
NM_006950.3(SYN1):c.860A>C (p.Asp287Ala)
|
rs2147913414
|
|
|
NM_006950.3(SYN1):c.873C>T (p.Ile291=)
|
|
|
|
NM_006950.3(SYN1):c.88C>G (p.Pro30Ala)
|
rs2147933540
|
|
|
NM_006950.3(SYN1):c.891G>A (p.Leu297=)
|
rs2147913391
|
|
|
NM_006950.3(SYN1):c.900G>A (p.Thr300=)
|
|
|
|
NM_006950.3(SYN1):c.90G>T (p.Pro30=)
|
rs2147933536
|
|
|
NM_006950.3(SYN1):c.910G>A (p.Ala304Thr)
|
|
|
|
NM_006950.3(SYN1):c.913G>A (p.Glu305Lys)
|
|
|
|
NM_006950.3(SYN1):c.924C>T (p.Ile308=)
|
|
|
|
NM_006950.3(SYN1):c.925G>A (p.Asp309Asn)
|
|
|
|
NM_006950.3(SYN1):c.945T>C (p.Arg315=)
|
|
|
|
NM_006950.3(SYN1):c.952A>C (p.Lys318Gln)
|
|
|
|
NM_006950.3(SYN1):c.953A>C (p.Lys318Thr)
|
rs2057778186
|
|
|
NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
|
|
|
|
NM_006950.3(SYN1):c.986C>A (p.Thr329Lys)
|
rs2057777813
|
|
|
NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
|
|
|
|
NM_016032.4(ZDHHC9):c.1003A>T (p.Asn335Tyr)
|
|
|
|
NM_016032.4(ZDHHC9):c.1021A>G (p.Ser341Gly)
|
|
|
|
NM_016032.4(ZDHHC9):c.1028C>T (p.Thr343Ile)
|
rs2124096171
|
|
|
NM_016032.4(ZDHHC9):c.1030C>T (p.Pro344Ser)
|
|
|
|
NM_016032.4(ZDHHC9):c.1032C>G (p.Pro344=)
|
|
|
|
NM_016032.4(ZDHHC9):c.1034A>C (p.Glu345Ala)
|
|
|
|
NM_016032.4(ZDHHC9):c.1038G>A (p.Glu346=)
|
|
|
|
NM_016032.4(ZDHHC9):c.1055C>G (p.Pro352Arg)
|
rs893901934
|
|
|
NM_016032.4(ZDHHC9):c.1064_1065insCCCACAGCC (p.Pro355_Gln357dup)
|
rs1413822794
|
|
|
NM_016032.4(ZDHHC9):c.1075G>A (p.Ala359Thr)
|
rs1927515432
|
|
|
NM_016032.4(ZDHHC9):c.1084G>C (p.Ala362Pro)
|
|
|
|
NM_016032.4(ZDHHC9):c.120G>T (p.Leu40=)
|
|
|
|
NM_016032.4(ZDHHC9):c.141G>A (p.Gly47=)
|
rs1602966301
|
|
|
NM_016032.4(ZDHHC9):c.144A>G (p.Thr48=)
|
rs145877196
|
|
|
NM_016032.4(ZDHHC9):c.153C>T (p.Leu51=)
|
|
|
|
NM_016032.4(ZDHHC9):c.159C>T (p.Phe53=)
|
rs2124141125
|
|
|
NM_016032.4(ZDHHC9):c.180G>A (p.Leu60=)
|
|
|
|
NM_016032.4(ZDHHC9):c.184G>A (p.Val62Ile)
|
|
|
|
NM_016032.4(ZDHHC9):c.197C>T (p.Pro66Leu)
|
|
|
|
NM_016032.4(ZDHHC9):c.220A>G (p.Met74Val)
|
|
|
|
NM_016032.4(ZDHHC9):c.222G>A (p.Met74Ile)
|
|
|
|
NM_016032.4(ZDHHC9):c.23A>G (p.Lys8Arg)
|
|
|
|
NM_016032.4(ZDHHC9):c.244A>G (p.Thr82Ala)
|
rs2124124631
|
|
|
NM_016032.4(ZDHHC9):c.266G>C (p.Ser89Thr)
|
|
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
|
NM_016032.4(ZDHHC9):c.274G>A (p.Gly92Arg)
|
rs2124124576
|
|
|
NM_016032.4(ZDHHC9):c.313A>G (p.Ile105Val)
|
rs2124124514
|
|
|
NM_016032.4(ZDHHC9):c.328+11C>T
|
rs769825368
|
|
|
NM_016032.4(ZDHHC9):c.328+16del
|
rs2124124472
|
|
|
NM_016032.4(ZDHHC9):c.328G>A (p.Glu110Lys)
|
|
|
|
NM_016032.4(ZDHHC9):c.329-11T>C
|
|
|
|
NM_016032.4(ZDHHC9):c.332C>T (p.Ala111Val)
|
rs1556006489
|
|
|
NM_016032.4(ZDHHC9):c.336C>T (p.Thr112=)
|
|
|
|
NM_016032.4(ZDHHC9):c.345G>A (p.Ala115=)
|
|
|
|
NM_016032.4(ZDHHC9):c.361C>T (p.Arg121Ter)
|
|
|
|
NM_016032.4(ZDHHC9):c.36G>A (p.Arg12=)
|
|
|
|
NM_016032.4(ZDHHC9):c.36G>C (p.Arg12=)
|
rs1602966376
|
|
|
NM_016032.4(ZDHHC9):c.373C>T (p.Arg125Cys)
|
|
|
|
NM_016032.4(ZDHHC9):c.396C>T (p.Asn132=)
|
|
|
|
NM_016032.4(ZDHHC9):c.397A>C (p.Asn133His)
|
rs1556006445
|
|
|
NM_016032.4(ZDHHC9):c.399C>A (p.Asn133Lys)
|
rs911311531
|
|
|
NM_016032.4(ZDHHC9):c.411A>G (p.Lys137=)
|
|
|
|
NM_016032.4(ZDHHC9):c.412C>A (p.Leu138Met)
|
rs142944444
|
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
|
NM_016032.4(ZDHHC9):c.443G>A (p.Arg148Gln)
|
rs2124117199
|
|
|
NM_016032.4(ZDHHC9):c.487+14_487+15inv
|
|
|
|
NM_016032.4(ZDHHC9):c.487+19A>G
|
|
|
|
NM_016032.4(ZDHHC9):c.487+19A>T
|
|
|
|
NM_016032.4(ZDHHC9):c.487+20C>T
|
|
|
|
NM_016032.4(ZDHHC9):c.487+8A>G
|
rs960379555
|
|
|
NM_016032.4(ZDHHC9):c.488-15C>G
|
|
|
|
NM_016032.4(ZDHHC9):c.488-15C>T
|
rs759659851
|
|
|
NM_016032.4(ZDHHC9):c.488-17C>G
|
|
|
|
NM_016032.4(ZDHHC9):c.488-19C>T
|
|
|
|
NM_016032.4(ZDHHC9):c.488-19CT[3]
|
rs762762877
|
|
|
NM_016032.4(ZDHHC9):c.488-5del
|
rs2124105781
|
|
|
NM_016032.4(ZDHHC9):c.488-9C>A
|
rs113127450
|
|
|
NM_016032.4(ZDHHC9):c.491G>A (p.Arg164His)
|
|
|
|
NM_016032.4(ZDHHC9):c.495C>T (p.Phe165=)
|
|
|
|
NM_016032.4(ZDHHC9):c.516G>A (p.Val172=)
|
|
|
|
NM_016032.4(ZDHHC9):c.51C>T (p.Leu17=)
|
rs2124141410
|
|
|
NM_016032.4(ZDHHC9):c.531A>G (p.Gly177=)
|
|
|
|
NM_016032.4(ZDHHC9):c.53C>G (p.Pro18Arg)
|
rs1928391209
|
|
|
NM_016032.4(ZDHHC9):c.544C>T (p.Arg182Cys)
|
rs2124105703
|
|
|
NM_016032.4(ZDHHC9):c.562A>G (p.Ile188Val)
|
|
|
|
NM_016032.4(ZDHHC9):c.586A>G (p.Ile196Val)
|
|
|
|
NM_016032.4(ZDHHC9):c.597C>T (p.Phe199=)
|
|
|
|
NM_016032.4(ZDHHC9):c.612C>T (p.Val204=)
|
|
|
|
NM_016032.4(ZDHHC9):c.614A>G (p.Tyr205Cys)
|
rs2124105555
|
|
|
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=)
|
|
|
|
NM_016032.4(ZDHHC9):c.625+10C>T
|
|
|
|
NM_016032.4(ZDHHC9):c.625+14G>A
|
|
|
|
NM_016032.4(ZDHHC9):c.626-11C>T
|
rs2124104577
|
|
|
NM_016032.4(ZDHHC9):c.626-16C>T
|
|
|
|
NM_016032.4(ZDHHC9):c.673A>G (p.Thr225Ala)
|
rs1927697408
|
|
|
NM_016032.4(ZDHHC9):c.674+10G>A
|
|
|
|
NM_016032.4(ZDHHC9):c.674+7T>C
|
rs1927697269
|
|
|
NM_016032.4(ZDHHC9):c.698T>C (p.Phe233Ser)
|
|
|
|
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=)
|
|
|
|
NM_016032.4(ZDHHC9):c.715G>A (p.Val239Ile)
|
|
|
|
NM_016032.4(ZDHHC9):c.718G>A (p.Val240Met)
|
|
|
|
NM_016032.4(ZDHHC9):c.718G>C (p.Val240Leu)
|
rs770589013
|
|
|
NM_016032.4(ZDHHC9):c.747C>T (p.Leu249=)
|
|
|
|
NM_016032.4(ZDHHC9):c.764C>A (p.Thr255Lys)
|
rs1927670769
|
|
|
NM_016032.4(ZDHHC9):c.76G>A (p.Asp26Asn)
|
|
|
|
NM_016032.4(ZDHHC9):c.770A>G (p.Asn257Ser)
|
|
|
|
NM_016032.4(ZDHHC9):c.778-11T>G
|
|
|
|
NM_016032.4(ZDHHC9):c.778-15G>T
|
|
|
|
NM_016032.4(ZDHHC9):c.778-4G>C
|
|
|
|
NM_016032.4(ZDHHC9):c.790T>C (p.Trp264Arg)
|
|
|
|
NM_016032.4(ZDHHC9):c.795A>T (p.Thr265=)
|
rs2124101786
|
|
|
NM_016032.4(ZDHHC9):c.805C>T (p.Arg269Cys)
|
|
|
|
NM_016032.4(ZDHHC9):c.807C>A (p.Arg269=)
|
|
|
|
NM_016032.4(ZDHHC9):c.807C>T (p.Arg269=)
|
|
|
|
NM_016032.4(ZDHHC9):c.858G>T (p.Val286=)
|
rs1556004572
|
|
|
NM_016032.4(ZDHHC9):c.873G>A (p.Leu291=)
|
rs1556004565
|
|
|
NM_016032.4(ZDHHC9):c.876C>T (p.Pro292=)
|
rs1556004557
|
|
|
NM_016032.4(ZDHHC9):c.881+10G>C
|
rs2124101663
|
|
|
NM_016032.4(ZDHHC9):c.881+17A>G
|
|
|
|
NM_016032.4(ZDHHC9):c.882-19dup
|
|
|
|
NM_016032.4(ZDHHC9):c.900T>C (p.Gly300=)
|
rs1556004503
|
|
|
NM_016032.4(ZDHHC9):c.913G>C (p.Glu305Gln)
|
|
|
|
NM_016032.4(ZDHHC9):c.925A>G (p.Ser309Gly)
|
rs1927626006
|
|
|
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser)
|
rs1927624839
|
|
|
NM_016032.4(ZDHHC9):c.952A>T (p.Ser318Cys)
|
|
|
|
NM_016032.4(ZDHHC9):c.956G>A (p.Ser319Asn)
|
|
|
|
NM_016032.4(ZDHHC9):c.961C>T (p.Leu321Phe)
|
|
|
|
NM_016032.4(ZDHHC9):c.978+6T>G
|
|
|
|
NM_016032.4(ZDHHC9):c.978+7G>A
|
|
|
|
NM_016032.4(ZDHHC9):c.979G>A (p.Ala327Thr)
|
|
|
|
NM_016032.4(ZDHHC9):c.984del (p.Thr329fs)
|
rs779289842
|
|
|
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=)
|
|
|
|
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile)
|
rs1437958560
|
|
|
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=)
|
rs757534089
|
|
|
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser)
|
rs1038661281
|
|
|
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=)
|
rs1669276096
|
|
|
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=)
|
rs2101075850
|
|
|
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs)
|
rs779442399
|
|
|
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg)
|
rs1558110707
|
|
|
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro)
|
rs1668897682
|
|
|
NM_022836.4(DCLRE1B):c.190-3C>G
|
rs1242019671
|
|
|
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln)
|
rs776471212
|
|
|
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val)
|
rs761321321
|
|
|
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile)
|
rs755192360
|
|
|
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser)
|
rs2101068175
|
|
|
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe)
|
rs1339289910
|
|
|
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly)
|
rs1333588223
|
|
|
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp)
|
rs369389853
|
|
|
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter)
|
rs138603501
|
|
|
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=)
|
rs1669111834
|
|
|
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=)
|
rs2101074559
|
|
|
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=)
|
rs574323645
|
|
|
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg)
|
rs1553260999
|
|
|
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del)
|
rs763030449
|
|
|
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe)
|
rs946912356
|
|
|
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=)
|
rs532282272
|
|
|
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=)
|
rs532282272
|
|
|
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His)
|
rs772803140
|
|
|
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg)
|
rs754841219
|
|
|
NM_022914.2(ACD):c.100C>G (p.Arg34Gly)
|
|
|
|
NM_022914.2(ACD):c.101G>C (p.Arg34Pro)
|
|
|
|
NM_022914.2(ACD):c.109C>A (p.Arg37Ser)
|
|
|
|
NM_022914.2(ACD):c.118G>A (p.Ala40Thr)
|
|
|
|
NM_022914.2(ACD):c.11G>A (p.Arg4His)
|
|
|
|
NM_022914.2(ACD):c.125C>T (p.Ala42Val)
|
|
|
|
NM_022914.2(ACD):c.133G>A (p.Val45Ile)
|
|
|
|
NM_022914.2(ACD):c.133G>T (p.Val45Leu)
|
|
|
|
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs)
|
rs764120026
|
|
|
NM_022914.2(ACD):c.147C>T (p.Gly49=)
|
|
|
|
NM_022914.2(ACD):c.147_149CCT[4] (p.Leu52_Arg53insLeu)
|
|
|
|
NM_022914.2(ACD):c.14G>A (p.Cys5Tyr)
|
rs1555542868
|
|
|
NM_022914.2(ACD):c.155delT (p.Leu52Profs)
|
|
|
|
NM_022914.2(ACD):c.17dup (p.Ser7Glufs)
|
|
|
|
NM_022914.2(ACD):c.184C>T (p.Leu62Phe)
|
|
|
|
NM_022914.2(ACD):c.188C>G (p.Pro63Arg)
|
|
|
|
NM_022914.2(ACD):c.199G>A (p.Gly67Arg)
|
|
|
|
NM_022914.2(ACD):c.209C>T (p.Ala70Val)
|
rs758189246
|
|
|
NM_022914.2(ACD):c.214G>C (p.Ala72Pro)
|
|
|
|
NM_022914.2(ACD):c.29C>G (p.Ala10Gly)
|
|
|
|
NM_022914.2(ACD):c.53C>T (p.Ser18Phe)
|
|
|
|
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs)
|
rs757084527
|
|
|
NM_022914.2(ACD):c.64G>C (p.Ala22Pro)
|
|
|
|
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
|
|
|
|
NM_022914.2(ACD):c.71G>A (p.Trp24Ter)
|
|
|
|
NM_022914.2(ACD):c.71_72invGG (p.Trp24Ser)
|
|
|
|
NM_022914.2(ACD):c.86T>A (p.Leu29Gln)
|
|
|
|
NM_022914.2(ACD):c.96dup (p.Arg34Profs)
|
|
|
|
NM_022914.2(ACD):c.98C>A (p.Pro33His)
|
|
|
|
NM_031206.7(LAS1L):c.1042+11G>T
|
rs1243724661
|
|
|
NM_031206.7(LAS1L):c.1082C>G (p.Pro361Arg)
|
rs867562406
|
|
|
NM_031206.7(LAS1L):c.1083A>G (p.Pro361=)
|
|
|
|
NM_031206.7(LAS1L):c.108C>T (p.Leu36=)
|
|
|
|
NM_031206.7(LAS1L):c.1093+18C>T
|
|
|
|
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile)
|
rs186130633
|
|
|
NM_031206.7(LAS1L):c.1114G>C (p.Val372Leu)
|
rs186130633
|
|
|
NM_031206.7(LAS1L):c.1129C>G (p.Pro377Ala)
|
|
|
|
NM_031206.7(LAS1L):c.1165C>T (p.Leu389=)
|
|
|
|
NM_031206.7(LAS1L):c.1203G>T (p.Arg401Ser)
|
rs1569438242
|
|
|
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
|
|
|
|
NM_031206.7(LAS1L):c.1209C>T (p.Leu403=)
|
|
|
|
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)
|
rs1057518699
|
|
|
NM_031206.7(LAS1L):c.1301-18T>A
|
|
|
|
NM_031206.7(LAS1L):c.1449-15C>T
|
rs1030269090
|
|
|
NM_031206.7(LAS1L):c.1472G>A (p.Gly491Asp)
|
rs1556301877
|
|
|
NM_031206.7(LAS1L):c.1505G>A (p.Arg502His)
|
|
|
|
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala)
|
rs2068725707
|
|
|
NM_031206.7(LAS1L):c.1662A>G (p.Gln554=)
|
|
|
|
NM_031206.7(LAS1L):c.1770G>A (p.Glu590=)
|
rs1602585869
|
|
|
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1])
|
rs766197666
|
|
|
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del)
|
rs750470319
|
|
|
NM_031206.7(LAS1L):c.1806G>A (p.Glu602=)
|
rs2068717941
|
|
|
NM_031206.7(LAS1L):c.1822G>T (p.Val608Leu)
|
|
|
|
NM_031206.7(LAS1L):c.1837A>G (p.Thr613Ala)
|
rs2148270110
|
|
|
NM_031206.7(LAS1L):c.1889G>T (p.Arg630Ile)
|
rs2148270017
|
|
|
NM_031206.7(LAS1L):c.2022T>C (p.Tyr674=)
|
rs929643656
|
|
|
NM_031206.7(LAS1L):c.204C>T (p.Tyr68=)
|
rs2069704573
|
|
|
NM_031206.7(LAS1L):c.2050C>T (p.Arg684Trp)
|
rs762602796
|
|
|
NM_031206.7(LAS1L):c.2051G>A (p.Arg684Gln)
|
rs900809839
|
|
|
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
|
|
|
|
NM_031206.7(LAS1L):c.2104G>A (p.Gly702Ser)
|
|
|
|
NM_031206.7(LAS1L):c.2166G>A (p.Gly722=)
|
|
|
|
NM_031206.7(LAS1L):c.2176G>A (p.Gly726Arg)
|
|
|
|
NM_031206.7(LAS1L):c.222G>A (p.Thr74=)
|
rs369263577
|
|
|
NM_031206.7(LAS1L):c.236+10C>G
|
|
|
|
NM_031206.7(LAS1L):c.320G>A (p.Gly107Asp)
|
rs2069620231
|
|
|
NM_031206.7(LAS1L):c.362+15G>A
|
|
|
|
NM_031206.7(LAS1L):c.362+20G>C
|
|
|
|
NM_031206.7(LAS1L):c.432+15G>A
|
|
|
|
NM_031206.7(LAS1L):c.433-19C>T
|
|
|
|
NM_031206.7(LAS1L):c.43G>C (p.Gly15Arg)
|
|
|
|
NM_031206.7(LAS1L):c.502G>A (p.Asp168Asn)
|
rs1569443405
|
|
|
NM_031206.7(LAS1L):c.515-5del
|
|
|
|
NM_031206.7(LAS1L):c.594G>A (p.Glu198=)
|
rs2148313376
|
|
|
NM_031206.7(LAS1L):c.639A>G (p.Glu213=)
|
|
|
|
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)
|
rs778389447
|
|
|
NM_031206.7(LAS1L):c.704G>A (p.Ser235Asn)
|
rs755168381
|
|
|
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala)
|
rs2069367677
|
|
|
NM_031206.7(LAS1L):c.717T>C (p.Asp239=)
|
|
|
|
NM_031206.7(LAS1L):c.727G>A (p.Asp243Asn)
|
|
|
|
NM_031206.7(LAS1L):c.801A>G (p.Glu267=)
|
rs2148311015
|
|
|
NM_031206.7(LAS1L):c.882T>A (p.Ile294=)
|
rs2148306861
|
|
|
NM_031206.7(LAS1L):c.900G>A (p.Pro300=)
|
|
|
|
NM_031206.7(LAS1L):c.942_956+6dup
|
|
|
|
NM_031206.7(LAS1L):c.947G>A (p.Cys316Tyr)
|
|
|
|
NM_080632.3(UPF3B):c.1008-18_1008-17del
|
|
|
|
NM_080632.3(UPF3B):c.1024G>A (p.Gly342Ser)
|
|
|
|
NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)
|
|
|
|
NM_080632.3(UPF3B):c.1052A>G (p.Glu351Gly)
|
|
|
|
NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)
|
|
|
|
NM_080632.3(UPF3B):c.108G>A (p.Gly36=)
|
|
|
|
NM_080632.3(UPF3B):c.1103G>A (p.Arg368Gln)
|
|
|
|
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys)
|
rs373472438
|
|
|
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
|
|
|
|
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=)
|
rs2056117477
|
|
|
NM_080632.3(UPF3B):c.1168GAA[2] (p.Glu392del)
|
|
|
|
NM_080632.3(UPF3B):c.1196C>T (p.Thr399Ile)
|
|
|
|
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
|
|
|
|
NM_080632.3(UPF3B):c.1230A>G (p.Thr410=)
|
|
|
|
NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)
|
|
|
|
NM_080632.3(UPF3B):c.1264_1266del (p.Lys422del)
|
|
|
|
NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)
|
|
|
|
NM_080632.3(UPF3B):c.1303-19A>G
|
|
|
|
NM_080632.3(UPF3B):c.1352G>A (p.Arg451Gln)
|
|
|
|
NM_080632.3(UPF3B):c.1372A>G (p.Ser458Gly)
|
|
|
|
NM_080632.3(UPF3B):c.1383dup (p.Gly462fs)
|
|
|
|
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
|
|
|
|
NM_080632.3(UPF3B):c.1440A>G (p.Gly480=)
|
|
|
|
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
|
|
|
|
NM_080632.3(UPF3B):c.156+16C>T
|
|
|
|
NM_080632.3(UPF3B):c.157-16T>G
|
rs769285530
|
|
|
NM_080632.3(UPF3B):c.159G>T (p.Val53=)
|
|
|
|
NM_080632.3(UPF3B):c.15G>A (p.Lys5=)
|
|
|
|
NM_080632.3(UPF3B):c.160delinsAC (p.Val54fs)
|
|
|
|
NM_080632.3(UPF3B):c.181A>G (p.Thr61Ala)
|
|
|
|
NM_080632.3(UPF3B):c.182C>G (p.Thr61Ser)
|
|
|
|
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
|
|
|
|
NM_080632.3(UPF3B):c.195G>A (p.Glu65=)
|
|
|
|
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
|
|
|
|
NM_080632.3(UPF3B):c.228G>A (p.Glu76=)
|
|
|
|
NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
|
|
|
|
NM_080632.3(UPF3B):c.261G>A (p.Thr87=)
|
|
|
|
NM_080632.3(UPF3B):c.261G>T (p.Thr87=)
|
rs749039837
|
|
|
NM_080632.3(UPF3B):c.263+10_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+11_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+12A>G
|
rs2056306448
|
|
|
NM_080632.3(UPF3B):c.263+12_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+13_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+14_263+18dup
|
|
|
|
NM_080632.3(UPF3B):c.263+15_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+17_263+18del
|
|
|
|
NM_080632.3(UPF3B):c.263+17_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
|
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18_263+19insAAAAAAAAAAAAC
|
|
|
|
NM_080632.3(UPF3B):c.263+18del
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+19_263+20delinsAA
|
|
|
|
NM_080632.3(UPF3B):c.263+3_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+4_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+5_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+6_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+7A>T
|
rs2147802761
|
|
|
NM_080632.3(UPF3B):c.263+7_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+8_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.263+9_263+18dup
|
rs55712755
|
|
|
NM_080632.3(UPF3B):c.264-6C>T
|
|
|
|
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
|
|
|
|
NM_080632.3(UPF3B):c.30G>A (p.Lys10=)
|
rs557005278
|
|
|
NM_080632.3(UPF3B):c.319A>G (p.Ile107Val)
|
|
|
|
NM_080632.3(UPF3B):c.332G>A (p.Arg111Lys)
|
|
|
|
NM_080632.3(UPF3B):c.365A>G (p.Asn122Ser)
|
|
|
|
NM_080632.3(UPF3B):c.370+20G>A
|
|
|
|
NM_080632.3(UPF3B):c.371-9del
|
|
|
|
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
|
|
|
|
NM_080632.3(UPF3B):c.388A>G (p.Ile130Val)
|
|
|
|
NM_080632.3(UPF3B):c.462C>T (p.Ile154=)
|
|
|
|
NM_080632.3(UPF3B):c.463G>A (p.Asp155Asn)
|
|
|
|
NM_080632.3(UPF3B):c.470A>G (p.Asp157Gly)
|
rs2147790181
|
|
|
NM_080632.3(UPF3B):c.494A>C (p.Glu165Ala)
|
|
|
|
NM_080632.3(UPF3B):c.520A>G (p.Met174Val)
|
|
|
|
NM_080632.3(UPF3B):c.56C>T (p.Pro19Leu)
|
|
|
|
NM_080632.3(UPF3B):c.580+10C>A
|
|
|
|
NM_080632.3(UPF3B):c.594C>G (p.Thr198=)
|
|
|
|
NM_080632.3(UPF3B):c.625-11T>C
|
|
|
|
NM_080632.3(UPF3B):c.625-15_625-14insGG
|
|
|
|
NM_080632.3(UPF3B):c.625-4C>T
|
|
|
|
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
|
|
|
|
NM_080632.3(UPF3B):c.66C>T (p.Ala22=)
|
rs890947408
|
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
|
NM_080632.3(UPF3B):c.711AGA[2] (p.Glu240del)
|
rs2056156815
|
|
|
NM_080632.3(UPF3B):c.717A>G (p.Glu239=)
|
|
|
|
NM_080632.3(UPF3B):c.808-8G>A
|
|
|
|
NM_080632.3(UPF3B):c.80G>A (p.Gly27Asp)
|
|
|
|
NM_080632.3(UPF3B):c.836A>G (p.Asn279Ser)
|
|
|
|
NM_080632.3(UPF3B):c.846+19A>T
|
|
|
|
NM_080632.3(UPF3B):c.847-20_847-18del
|
|
|
|
NM_080632.3(UPF3B):c.847-7T>C
|
|
|
|
NM_080632.3(UPF3B):c.87C>T (p.Thr29=)
|
|
|
|
NM_080632.3(UPF3B):c.89C>T (p.Ser30Leu)
|
|
|
|
NM_080632.3(UPF3B):c.903C>T (p.Ala301=)
|
|
|
|
NM_080632.3(UPF3B):c.912G>A (p.Leu304=)
|
|
|
|
NM_080632.3(UPF3B):c.937A>G (p.Arg313Gly)
|
|
|
|
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
|
|
|
|
NM_080632.3(UPF3B):c.950A>G (p.Gln317Arg)
|
|
|
|
NM_080632.3(UPF3B):c.960A>C (p.Thr320=)
|
rs2147784327
|
|
|
NM_080632.3(UPF3B):c.981C>T (p.Ser327=)
|
|
|
|
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
|
|
|
|
NM_139058.3(ARX):c.1005C>T (p.Phe335=)
|
|
|
|
NM_139058.3(ARX):c.1008C>A (p.Thr336=)
|
rs2147323576
|
|
|
NM_139058.3(ARX):c.1014C>T (p.Tyr338=)
|
|
|
|
NM_139058.3(ARX):c.1017G>A (p.Gln339=)
|
|
|
|
NM_139058.3(ARX):c.101G>C (p.Gly34Ala)
|
|
|
|
NM_139058.3(ARX):c.1026A>G (p.Glu342=)
|
|
|
|
NM_139058.3(ARX):c.1033C>A (p.Arg345=)
|
rs1601948273
|
|
|
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)
|
rs1556054888
|
|
|
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu)
|
rs1060503040
|
|
|
NM_139058.3(ARX):c.104G>A (p.Arg35Gln)
|
|
|
|
NM_139058.3(ARX):c.1050G>A (p.Thr350=)
|
|
|
|
NM_139058.3(ARX):c.1059G>A (p.Pro353=)
|
rs1060504804
|
|
|
NM_139058.3(ARX):c.1062C>T (p.Asp354=)
|
|
|
|
NM_139058.3(ARX):c.1070C>A (p.Thr357Asn)
|
|
|
|
NM_139058.3(ARX):c.1073+13G>A
|
|
|
|
NM_139058.3(ARX):c.1073+14G>T
|
|
|
|
NM_139058.3(ARX):c.1073+18T>C
|
|
|
|
NM_139058.3(ARX):c.1073+20G>A
|
|
|
|
NM_139058.3(ARX):c.1073+4T>C
|
rs1460686418
|
|
|
NM_139058.3(ARX):c.1073+5G>A
|
|
|
|
NM_139058.3(ARX):c.1073+6C>T
|
rs1176939436
|
|
|
NM_139058.3(ARX):c.1073+7G>A
|
|
|
|
NM_139058.3(ARX):c.1073+8C>A
|
|
|
|
NM_139058.3(ARX):c.1073+9G>A
|
|
|
|
NM_139058.3(ARX):c.1074-20T>G
|
|
|
|
NM_139058.3(ARX):c.1074-5T>C
|
|
|
|
NM_139058.3(ARX):c.1074-7C>A
|
|
|
|
NM_139058.3(ARX):c.107G>A (p.Arg36Lys)
|
|
|
|
NM_139058.3(ARX):c.1083G>A (p.Leu361=)
|
|
|
|
NM_139058.3(ARX):c.1083G>C (p.Leu361=)
|
|
|
|
NM_139058.3(ARX):c.1095G>C (p.Leu365=)
|
|
|
|
NM_139058.3(ARX):c.1095G>T (p.Leu365=)
|
|
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
|
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
|
rs587783182
|
|
|
NM_139058.3(ARX):c.1111del (p.Arg371fs)
|
|
|
|
NM_139058.3(ARX):c.1116C>A (p.Val372=)
|
|
|
|
NM_139058.3(ARX):c.1119+14C>T
|
|
|
|
NM_139058.3(ARX):c.1119+16G>A
|
|
|
|
NM_139058.3(ARX):c.1119+20G>A
|
rs2048696652
|
|
|
NM_139058.3(ARX):c.1120-12T>G
|
|
|
|
NM_139058.3(ARX):c.1120-17CT[3]
|
rs763304807
|
|
|
NM_139058.3(ARX):c.1120-2A>G
|
rs2147320644
|
|
|
NM_139058.3(ARX):c.1120-4G>A
|
|
|
|
NM_139058.3(ARX):c.1120-5del
|
rs2147320646
|
|
|
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)
|
rs2147320638
|
|
|
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)
|
rs1556049714
|
|
|
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)
|
rs1556049714
|
|
|
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)
|
|
|
|
NM_139058.3(ARX):c.1143C>T (p.Ala381=)
|
|
|
|
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
|
|
|
|
NM_139058.3(ARX):c.1155G>A (p.Lys385=)
|
rs1053434875
|
|
|
NM_139058.3(ARX):c.1158G>T (p.Arg386=)
|
|
|
|
NM_139058.3(ARX):c.1173G>A (p.Ala391=)
|
|
|
|
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
|
|
|
|
NM_139058.3(ARX):c.1185C>T (p.Pro395=)
|
|
|
|
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr)
|
rs776523818
|
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
|
NM_139058.3(ARX):c.1202C>T (p.Pro401Leu)
|
|
|
|
NM_139058.3(ARX):c.1203G>C (p.Pro401=)
|
|
|
|
NM_139058.3(ARX):c.1209G>A (p.Pro403=)
|
rs1380487514
|
|
|
NM_139058.3(ARX):c.1209G>C (p.Pro403=)
|
rs1380487514
|
|
|
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln)
|
rs1601946603
|
|
|
NM_139058.3(ARX):c.1230C>G (p.Leu410=)
|
|
|
|
NM_139058.3(ARX):c.1239C>T (p.Tyr413=)
|
|
|
|
NM_139058.3(ARX):c.1240C>G (p.Leu414Val)
|
|
|
|
NM_139058.3(ARX):c.1245C>T (p.Asp415=)
|
rs2147320537
|
|
|
NM_139058.3(ARX):c.1248C>T (p.Ala416=)
|
|
|
|
NM_139058.3(ARX):c.125G>C (p.Arg42Pro)
|
rs763796730
|
|
|
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala)
|
rs1417254985
|
|
|
NM_139058.3(ARX):c.1263G>A (p.Pro421=)
|
|
|
|
NM_139058.3(ARX):c.1263G>T (p.Pro421=)
|
|
|
|
NM_139058.3(ARX):c.1265ACC[1] (p.His423del)
|
rs2147320498
|
|
|
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala)
|
rs2147320496
|
|
|
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu)
|
rs2147320493
|
|
|
NM_139058.3(ARX):c.1272G>T (p.Pro424=)
|
rs398124507
|
|
|
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)
|
|
|
|
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
|
|
|
|
NM_139058.3(ARX):c.1275G>T (p.Ala425=)
|
rs2048682544
|
|
|
NM_139058.3(ARX):c.1278C>G (p.Leu426=)
|
|
|
|
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)
|
|
|
|
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)
|
rs2048682045
|
|
|
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del)
|
rs1064794482
|
|
|
NM_139058.3(ARX):c.1296C>T (p.Ala432=)
|
rs990653917
|
|
|
NM_139058.3(ARX):c.1298C>T (p.Ala433Val)
|
rs2147320466
|
|
|
NM_139058.3(ARX):c.1299T>A (p.Ala433=)
|
rs952488301
|
|
|
NM_139058.3(ARX):c.1299T>C (p.Ala433=)
|
|
|
|
NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del)
|
rs776061068
|
|
|
NM_139058.3(ARX):c.1299_1313dup (p.Ala440_Phe441insAlaAlaAlaAlaAla)
|
|
|
|
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)
|
rs398124508
|
|
|
NM_139058.3(ARX):c.1302C>T (p.Ala434=)
|
|
|
|
NM_139058.3(ARX):c.1305C>T (p.Ala435=)
|
|
|
|
NM_139058.3(ARX):c.1308C>T (p.Ala436=)
|
|
|
|
NM_139058.3(ARX):c.1311C>A (p.Ala437=)
|
rs1307707269
|
|
|
NM_139058.3(ARX):c.1311C>T (p.Ala437=)
|
|
|
|
NM_139058.3(ARX):c.1312G>A (p.Ala438Thr)
|
|
|
|
NM_139058.3(ARX):c.1314C>T (p.Ala438=)
|
|
|
|
NM_139058.3(ARX):c.1315G>A (p.Ala439Thr)
|
|
|
|
NM_139058.3(ARX):c.1320C>T (p.Ala440=)
|
|
|
|
NM_139058.3(ARX):c.1323C>T (p.Phe441=)
|
|
|
|
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)
|
|
|
|
NM_139058.3(ARX):c.1326G>C (p.Pro442=)
|
rs774538294
|
|
|
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly)
|
rs2048682085
|
|
|
NM_139058.3(ARX):c.132G>C (p.Leu44=)
|
|
|
|
NM_139058.3(ARX):c.1330C>T (p.Leu444=)
|
|
|
|
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser)
|
rs2147320407
|
|
|
NM_139058.3(ARX):c.1337C>T (p.Pro446Leu)
|
|
|
|
NM_139058.3(ARX):c.1338G>T (p.Pro446=)
|
|
|
|
NM_139058.3(ARX):c.1344G>C (p.Pro448=)
|
|
|
|
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser)
|
rs2147320401
|
|
|
NM_139058.3(ARX):c.1350G>C (p.Ser450=)
|
|
|
|
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)
|
|
|
|
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu)
|
rs2147320384
|
|
|
NM_139058.3(ARX):c.1362G>A (p.Pro454=)
|
|
|
|
NM_139058.3(ARX):c.1362G>T (p.Pro454=)
|
|
|
|
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)
|
|
|
|
NM_139058.3(ARX):c.1371G>T (p.Gly457=)
|
rs781348930
|
|
|
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)
|
|
|
|
NM_139058.3(ARX):c.1374G>A (p.Ala458=)
|
|
|
|
NM_139058.3(ARX):c.137C>T (p.Ala46Val)
|
|
|
|
NM_139058.3(ARX):c.138C>A (p.Ala46=)
|
|
|
|
NM_139058.3(ARX):c.1399G>A (p.Gly467Arg)
|
|
|
|
NM_139058.3(ARX):c.1400G>T (p.Gly467Val)
|
rs587783188
|
|
|
NM_139058.3(ARX):c.1404G>A (p.Ala468=)
|
|
|
|
NM_139058.3(ARX):c.141G>A (p.Ala47=)
|
|
|
|
NM_139058.3(ARX):c.1425T>C (p.Ala475=)
|
rs2147320329
|
|
|
NM_139058.3(ARX):c.1428C>T (p.Phe476=)
|
|
|
|
NM_139058.3(ARX):c.1443C>T (p.Phe481=)
|
|
|
|
NM_139058.3(ARX):c.1443dup (p.Gly482fs)
|
rs2147320305
|
|
|
NM_139058.3(ARX):c.1446C>G (p.Gly482=)
|
|
|
|
NM_139058.3(ARX):c.1448+11G>C
|
|
|
|
NM_139058.3(ARX):c.1448+14T>C
|
rs1201797048
|
|
|
NM_139058.3(ARX):c.1448+15C>T
|
rs2147320273
|
|
|
NM_139058.3(ARX):c.1448+16G>A
|
|
|
|
NM_139058.3(ARX):c.1448+19del
|
|
|
|
NM_139058.3(ARX):c.1448+20G>A
|
|
|
|
NM_139058.3(ARX):c.1448+7_1448+9del
|
rs2147320285
|
|
|
NM_139058.3(ARX):c.1448+8G>A
|
|
|
|
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)
|
|
|
|
NM_139058.3(ARX):c.1449-10C>T
|
|
|
|
NM_139058.3(ARX):c.1449-11T>C
|
|
|
|
NM_139058.3(ARX):c.1449-13G>A
|
|
|
|
NM_139058.3(ARX):c.1449-1G>C
|
|
|
|
NM_139058.3(ARX):c.1449-20G>A
|
|
|
|
NM_139058.3(ARX):c.1449-3C>A
|
rs1295206345
|
|
|
NM_139058.3(ARX):c.1449-4G>A
|
|
|
|
NM_139058.3(ARX):c.144G>A (p.Gln48=)
|
|
|
|
NM_139058.3(ARX):c.1450C>A (p.Leu484Ile)
|
|
|
|
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu)
|
rs2048670837
|
|
|
NM_139058.3(ARX):c.1470C>A (p.Pro490=)
|
|
|
|
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)
|
rs797045292
|
|
|
NM_139058.3(ARX):c.1473G>C (p.Leu491=)
|
|
|
|
NM_139058.3(ARX):c.1479C>T (p.Ser493=)
|
|
|
|
NM_139058.3(ARX):c.1491G>T (p.Ala497=)
|
rs1021002740
|
|
|
NM_139058.3(ARX):c.1494C>G (p.Ala498=)
|
|
|
|
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro)
|
rs2147318769
|
|
|
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)
|
|
|
|
NM_139058.3(ARX):c.1497G>A (p.Ala499=)
|
rs770318189
|
|
|
NM_139058.3(ARX):c.1497G>C (p.Ala499=)
|
rs770318189
|
|
|
NM_139058.3(ARX):c.1497G>T (p.Ala499=)
|
rs770318189
|
|
|
NM_139058.3(ARX):c.1497del (p.Leu500fs)
|
|
|
|
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile)
|
rs2147318762
|
|
|
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)
|
|
|
|
NM_139058.3(ARX):c.1500C>G (p.Leu500=)
|
|
|
|
NM_139058.3(ARX):c.1503G>A (p.Leu501=)
|
rs2147318758
|
|
|
NM_139058.3(ARX):c.1518C>G (p.Pro506=)
|
rs1601945679
|
|
|
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs)
|
rs1569393457
|
|
|
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp)
|
rs2048670328
|
|
|
NM_139058.3(ARX):c.152C>G (p.Pro51Arg)
|
|
|
|
NM_139058.3(ARX):c.1530C>A (p.Gly510=)
|
|
|
|
NM_139058.3(ARX):c.1533A>G (p.Ala511=)
|
rs1556046751
|
|
|
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp)
|
rs2048670174
|
|
|
NM_139058.3(ARX):c.1542G>C (p.Ser514=)
|
rs1240255602
|
|
|
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro)
|
rs747042039
|
|
|
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)
|
rs747042039
|
|
|
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)
|
rs1601945655
|
|
|
NM_139058.3(ARX):c.1559del (p.Pro520fs)
|
|
|
|
NM_139058.3(ARX):c.155C>A (p.Ala52Asp)
|
rs2048723704
|
|
|
NM_139058.3(ARX):c.1566G>C (p.Thr522=)
|
|
|
|
NM_139058.3(ARX):c.1568C>T (p.Ala523Val)
|
|
|
|
NM_139058.3(ARX):c.1569G>A (p.Ala523=)
|
|
|
|
NM_139058.3(ARX):c.1569G>C (p.Ala523=)
|
rs1601945635
|
|
|
NM_139058.3(ARX):c.1575A>T (p.Ala525=)
|
|
|
|
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)
|
rs1601945626
|
|
|
NM_139058.3(ARX):c.1587C>G (p.Ala529=)
|
|
|
|
NM_139058.3(ARX):c.1587C>T (p.Ala529=)
|
rs1601945617
|
|
|
NM_139058.3(ARX):c.158C>G (p.Pro53Arg)
|
rs1329228660
|
|
|
NM_139058.3(ARX):c.1590T>A (p.Ser530=)
|
|
|
|
NM_139058.3(ARX):c.1599C>A (p.Ala533=)
|
rs1057523196
|
|
|
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
|
|
|
|
NM_139058.3(ARX):c.1602G>A (p.Ala534=)
|
|
|
|
NM_139058.3(ARX):c.1602G>C (p.Ala534=)
|
|
|
|
NM_139058.3(ARX):c.1604T>C (p.Leu535Pro)
|
|
|
|
NM_139058.3(ARX):c.1611C>G (p.Leu537=)
|
|
|
|
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)
|
rs2147318633
|
|
|
NM_139058.3(ARX):c.1616C>T (p.Ala539Val)
|
rs2048669327
|
|
|
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu)
|
rs2048669310
|
|
|
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter)
|
rs938274319
|
|
|
NM_139058.3(ARX):c.1629G>A (p.Ala543=)
|
|
|
|
NM_139058.3(ARX):c.1638C>G (p.Leu546=)
|
|
|
|
NM_139058.3(ARX):c.1638C>T (p.Leu546=)
|
|
|
|
NM_139058.3(ARX):c.1641G>A (p.Thr547=)
|
|
|
|
NM_139058.3(ARX):c.1659G>A (p.Pro553=)
|
|
|
|
NM_139058.3(ARX):c.1670C>G (p.Thr557Arg)
|
|
|
|
NM_139058.3(ARX):c.1677G>A (p.Lys559=)
|
rs2147318581
|
|
|
NM_139058.3(ARX):c.169C>T (p.Arg57Cys)
|
|
|
|
NM_139058.3(ARX):c.174C>A (p.Ala58=)
|
|
|
|
NM_139058.3(ARX):c.179C>T (p.Pro60Leu)
|
rs1335616654
|
|
|
NM_139058.3(ARX):c.180G>T (p.Pro60=)
|
|
|
|
NM_139058.3(ARX):c.188C>T (p.Ala63Val)
|
|
|
|
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
|
|
|
|
NM_139058.3(ARX):c.195A>G (p.Gln65=)
|
|
|
|
NM_139058.3(ARX):c.196+15G>A
|
|
|
|
NM_139058.3(ARX):c.196+6G>A
|
|
|
|
NM_139058.3(ARX):c.197-15C>T
|
|
|
|
NM_139058.3(ARX):c.197-5C>T
|
|
|
|
NM_139058.3(ARX):c.197G>C (p.Gly66Ala)
|
|
|
|
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)
|
|
|
|
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)
|
|
|
|
NM_139058.3(ARX):c.215G>C (p.Ser72Thr)
|
rs1556056580
|
|
|
NM_139058.3(ARX):c.216C>T (p.Ser72=)
|
|
|
|
NM_139058.3(ARX):c.219C>T (p.Ala73=)
|
|
|
|
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)
|
|
|
|
NM_139058.3(ARX):c.222G>A (p.Pro74=)
|
rs2048714056
|
|
|
NM_139058.3(ARX):c.222G>T (p.Pro74=)
|
|
|
|
NM_139058.3(ARX):c.225C>G (p.Phe75Leu)
|
|
|
|
NM_139058.3(ARX):c.227A>G (p.Glu76Gly)
|
rs2147324478
|
|
|
NM_139058.3(ARX):c.239A>G (p.His80Arg)
|
|
|
|
NM_139058.3(ARX):c.240C>T (p.His80=)
|
|
|
|
NM_139058.3(ARX):c.250A>C (p.Lys84Gln)
|
rs2048713939
|
|
|
NM_139058.3(ARX):c.252G>A (p.Lys84=)
|
|
|
|
NM_139058.3(ARX):c.264G>A (p.Leu88=)
|
rs1556056513
|
|
|
NM_139058.3(ARX):c.267C>T (p.Tyr89=)
|
rs1060504805
|
|
|
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)
|
|
|
|
NM_139058.3(ARX):c.273G>A (p.Pro91=)
|
|
|
|
NM_139058.3(ARX):c.273G>C (p.Pro91=)
|
|
|
|
NM_139058.3(ARX):c.274G>C (p.Gly92Arg)
|
rs2048713809
|
|
|
NM_139058.3(ARX):c.276C>T (p.Gly92=)
|
|
|
|
NM_139058.3(ARX):c.279G>A (p.Gly93=)
|
rs1299202405
|
|
|
NM_139058.3(ARX):c.279G>T (p.Gly93=)
|
|
|
|
NM_139058.3(ARX):c.27C>G (p.Gly9=)
|
|
|
|
NM_139058.3(ARX):c.291T>C (p.Leu97=)
|
rs2147324418
|
|
|
NM_139058.3(ARX):c.294G>A (p.Gln98=)
|
|
|
|
NM_139058.3(ARX):c.300G>C (p.Ala100=)
|
|
|
|
NM_139058.3(ARX):c.303A>C (p.Ala101=)
|
|
|
|
NM_139058.3(ARX):c.303_305del (p.Ala115del)
|
|
|
|
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)
|
|
|
|
NM_139058.3(ARX):c.303_311del (p.Ala113_Ala115del)
|
|
|
|
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del)
|
rs1156871090
|
|
|
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)
|
rs2147324381
|
|
|
NM_139058.3(ARX):c.306G>A (p.Ala102=)
|
rs587783196
|
|
|
NM_139058.3(ARX):c.306G>C (p.Ala102=)
|
|
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)
|
rs1365611175
|
|
|
NM_139058.3(ARX):c.311C>T (p.Ala104Val)
|
|
|
|
NM_139058.3(ARX):c.312G>A (p.Ala104=)
|
rs1419161057
|
|
|
NM_139058.3(ARX):c.312G>C (p.Ala104=)
|
|
|
|
NM_139058.3(ARX):c.312G>T (p.Ala104=)
|
|
|
|
NM_139058.3(ARX):c.315G>A (p.Ala105=)
|
rs2048713533
|
|
|
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del)
|
rs1470521514
|
|
|
NM_139058.3(ARX):c.324G>A (p.Ala108=)
|
|
|
|
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)
|
rs2147324337
|
|
|
NM_139058.3(ARX):c.32C>G (p.Ser11Cys)
|
|
|
|
NM_139058.3(ARX):c.333G>C (p.Ala111=)
|
|
|
|
NM_139058.3(ARX):c.333G>T (p.Ala111=)
|
|
|
|
NM_139058.3(ARX):c.336_338del (p.Ala115del)
|
rs2048713322
|
|
|
NM_139058.3(ARX):c.336_338dup (p.Ala115_Thr116insAla)
|
|
|
|
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)
|
|
|
|
NM_139058.3(ARX):c.33C>T (p.Ser11=)
|
|
|
|
NM_139058.3(ARX):c.342C>G (p.Ala114=)
|
rs2147324330
|
|
|
NM_139058.3(ARX):c.345C>G (p.Ala115=)
|
rs2147324328
|
|
|
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)
|
|
|
|
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)
|
rs2147324326
|
|
|
NM_139058.3(ARX):c.346A>G (p.Thr116Ala)
|
rs1449728469
|
|
|
NM_139058.3(ARX):c.347C>T (p.Thr116Met)
|
|
|
|
NM_139058.3(ARX):c.348G>A (p.Thr116=)
|
rs1601948719
|
|
|
NM_139058.3(ARX):c.354G>A (p.Thr118=)
|
|
|
|
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
|
|
|
|
NM_139058.3(ARX):c.363A>G (p.Pro121=)
|
|
|
|
NM_139058.3(ARX):c.365G>A (p.Arg122His)
|
rs1335963054
|
|
|
NM_139058.3(ARX):c.373G>A (p.Ala125Thr)
|
rs1349449662
|
|
|
NM_139058.3(ARX):c.378_459del (p.Pro127fs)
|
|
|
|
NM_139058.3(ARX):c.387A>C (p.Pro129=)
|
|
|
|
NM_139058.3(ARX):c.389C>T (p.Pro130Leu)
|
rs1064795129
|
|
|
NM_139058.3(ARX):c.390G>T (p.Pro130=)
|
rs2147324273
|
|
|
NM_139058.3(ARX):c.398C>T (p.Ala133Val)
|
rs1601948689
|
|
|
NM_139058.3(ARX):c.399G>A (p.Ala133=)
|
rs2147324267
|
|
|
NM_139058.3(ARX):c.404C>T (p.Pro135Leu)
|
rs1569395563
|
|
|
NM_139058.3(ARX):c.409del (p.Glu137fs)
|
|
|
|
NM_139058.3(ARX):c.411A>C (p.Glu137Asp)
|
rs1601948681
|
|
|
NM_139058.3(ARX):c.414G>A (p.Arg138=)
|
|
|
|
NM_139058.3(ARX):c.414G>T (p.Arg138=)
|
|
|
|
NM_139058.3(ARX):c.415C>A (p.Pro139Thr)
|
rs2048712673
|
|
|
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)
|
|
|
|
NM_139058.3(ARX):c.420C>T (p.Asp140=)
|
rs2147324243
|
|
|
NM_139058.3(ARX):c.421G>A (p.Gly141Ser)
|
rs2048712606
|
|
|
NM_139058.3(ARX):c.426A>C (p.Ala142=)
|
|
|
|
NM_139058.3(ARX):c.426A>T (p.Ala142=)
|
|
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
|
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)
|
rs1556056154
|
|
|
NM_139058.3(ARX):c.428G>C (p.Gly143Ala)
|
rs2048712574
|
|
|
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)
|
rs387906493
|
|
|
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)
|
rs387906493
|
|
|
NM_139058.3(ARX):c.42C>G (p.Pro14=)
|
rs2048724355
|
|
|
NM_139058.3(ARX):c.42C>T (p.Pro14=)
|
|
|
|
NM_139058.3(ARX):c.432C>G (p.Ala144=)
|
|
|
|
NM_139058.3(ARX):c.432C>T (p.Ala144=)
|
|
|
|
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)
|
rs2147324216
|
|
|
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)
|
rs1438576250
|
|
|
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del)
|
rs1251374008
|
|
|
NM_139058.3(ARX):c.435C>G (p.Ala145=)
|
|
|
|
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)
|
|
|
|
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)
|
rs2048712160
|
|
|
NM_139058.3(ARX):c.43G>C (p.Glu15Gln)
|
|
|
|
NM_139058.3(ARX):c.441A>C (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
|
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)
|
rs1460450589
|
|
|
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)
|
rs1460450589
|
|
|
NM_139058.3(ARX):c.441_449del (p.Ala153_Ala155del)
|
|
|
|
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)
|
rs750585274
|
|
|
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
|
rs750585274
|
|
|
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)
|
rs398124510
|
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
|
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)
|
|
|
|
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)
|
|
|
|
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)
|
|
|
|
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)
|
rs398124512
|
|
|
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)
|
|
|
|
NM_139058.3(ARX):c.448GCCGCGGCC[1] (p.Ala153_Ala155del)
|
rs797045302
|
|
|
NM_139058.3(ARX):c.449C>T (p.Ala150Val)
|
rs2048712353
|
|
|
NM_139058.3(ARX):c.44A>G (p.Glu15Gly)
|
|
|
|
NM_139058.3(ARX):c.450C>T (p.Ala150=)
|
|
|
|
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)
|
rs757588621
|
|
|
NM_139058.3(ARX):c.452C>T (p.Ala151Val)
|
rs1439646032
|
|
|
NM_139058.3(ARX):c.453G>A (p.Ala151=)
|
|
|
|
NM_139058.3(ARX):c.453G>C (p.Ala151=)
|
rs878855205
|
|
|
NM_139058.3(ARX):c.454G>A (p.Ala152Thr)
|
rs587783201
|
|
|
NM_139058.3(ARX):c.456C>A (p.Ala152=)
|
|
|
|
NM_139058.3(ARX):c.457G>A (p.Ala153Thr)
|
rs2048712192
|
|
|
NM_139058.3(ARX):c.462G>C (p.Ala154=)
|
|
|
|
NM_139058.3(ARX):c.462G>T (p.Ala154=)
|
|
|
|
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe)
|
rs1569395505
|
|
|
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
|
|
|
|
NM_139058.3(ARX):c.492G>A (p.Ala164=)
|
|
|
|
NM_139058.3(ARX):c.495G>T (p.Pro165=)
|
|
|
|
NM_139058.3(ARX):c.498G>A (p.Gln166=)
|
|
|
|
NM_139058.3(ARX):c.501G>A (p.Val167=)
|
rs2048711777
|
|
|
NM_139058.3(ARX):c.504C>T (p.Ser168=)
|
|
|
|
NM_139058.3(ARX):c.509G>A (p.Ser170Asn)
|
rs1556056051
|
|
|
NM_139058.3(ARX):c.510C>T (p.Ser170=)
|
rs2147324103
|
|
|
NM_139058.3(ARX):c.516C>T (p.Ser172=)
|
rs2048711722
|
|
|
NM_139058.3(ARX):c.522G>T (p.Ser174=)
|
rs2048711689
|
|
|
NM_139058.3(ARX):c.528C>T (p.Arg176=)
|
|
|
|
NM_139058.3(ARX):c.535G>C (p.Gly179Arg)
|
rs2048711615
|
|
|
NM_139058.3(ARX):c.540G>A (p.Ala180=)
|
rs794727309
|
|
|
NM_139058.3(ARX):c.541C>A (p.Pro181Thr)
|
rs2147324074
|
|
|
NM_139058.3(ARX):c.541C>T (p.Pro181Ser)
|
|
|
|
NM_139058.3(ARX):c.547G>C (p.Val183Leu)
|
|
|
|
NM_139058.3(ARX):c.549G>A (p.Val183=)
|
|
|
|
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup)
|
rs1308129416
|
|
|
NM_139058.3(ARX):c.550C>G (p.Pro184Ala)
|
|
|
|
NM_139058.3(ARX):c.552G>A (p.Pro184=)
|
|
|
|
NM_139058.3(ARX):c.552G>C (p.Pro184=)
|
rs2147324063
|
|
|
NM_139058.3(ARX):c.553C>T (p.Pro185Ser)
|
rs2048711460
|
|
|
NM_139058.3(ARX):c.55A>C (p.Lys19Gln)
|
|
|
|
NM_139058.3(ARX):c.561C>G (p.Pro187=)
|
|
|
|
NM_139058.3(ARX):c.563C>G (p.Ala188Gly)
|
rs1441240819
|
|
|
NM_139058.3(ARX):c.578G>C (p.Gly193Ala)
|
rs2147324028
|
|
|
NM_139058.3(ARX):c.579C>T (p.Gly193=)
|
|
|
|
NM_139058.3(ARX):c.590dup (p.Val198fs)
|
|
|
|
NM_139058.3(ARX):c.594C>T (p.Val198=)
|
|
|
|
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)
|
|
|
|
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)
|
rs1268774120
|
|
|
NM_139058.3(ARX):c.597G>A (p.Thr199=)
|
rs398124515
|
|
|
NM_139058.3(ARX):c.597G>T (p.Thr199=)
|
|
|
|
NM_139058.3(ARX):c.611G>T (p.Arg204Leu)
|
rs755745002
|
|
|
NM_139058.3(ARX):c.613C>T (p.Leu205Phe)
|
rs797045304
|
|
|
NM_139058.3(ARX):c.615C>T (p.Leu205=)
|
|
|
|
NM_139058.3(ARX):c.618C>T (p.Gly206=)
|
|
|
|
NM_139058.3(ARX):c.619G>T (p.Val207Leu)
|
rs1276718018
|
|
|
NM_139058.3(ARX):c.61C>G (p.Pro21Ala)
|
rs1601949554
|
|
|
NM_139058.3(ARX):c.625G>A (p.Gly209Ser)
|
rs587783203
|
|
|
NM_139058.3(ARX):c.625G>C (p.Gly209Arg)
|
rs587783203
|
|
|
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)
|
|
|
|
NM_139058.3(ARX):c.629G>T (p.Gly210Val)
|
rs752323898
|
|
|
NM_139058.3(ARX):c.632C>G (p.Pro211Arg)
|
|
|
|
NM_139058.3(ARX):c.633G>A (p.Pro211=)
|
|
|
|
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del)
|
rs2147323937
|
|
|
NM_139058.3(ARX):c.636C>T (p.Gly212=)
|
|
|
|
NM_139058.3(ARX):c.641C>A (p.Ala214Asp)
|
|
|
|
NM_139058.3(ARX):c.642_645del (p.Pro215fs)
|
rs2147323943
|
|
|
NM_139058.3(ARX):c.644C>A (p.Pro215Gln)
|
rs964935114
|
|
|
NM_139058.3(ARX):c.645G>C (p.Pro215=)
|
|
|
|
NM_139058.3(ARX):c.659G>A (p.Gly220Asp)
|
|
|
|
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3])
|
rs876661147
|
|
|
NM_139058.3(ARX):c.662C>T (p.Thr221Ile)
|
rs1017790646
|
|
|
NM_139058.3(ARX):c.663C>G (p.Thr221=)
|
rs1006404746
|
|
|
NM_139058.3(ARX):c.664G>C (p.Gly222Arg)
|
rs1183516776
|
|
|
NM_139058.3(ARX):c.669C>A (p.Thr223=)
|
rs1473823603
|
|
|
NM_139058.3(ARX):c.669C>G (p.Thr223=)
|
|
|
|
NM_139058.3(ARX):c.669C>T (p.Thr223=)
|
|
|
|
NM_139058.3(ARX):c.670G>A (p.Glu224Lys)
|
|
|
|
NM_139058.3(ARX):c.674A>T (p.Asp225Val)
|
rs1057521690
|
|
|
NM_139058.3(ARX):c.675C>T (p.Asp225=)
|
|
|
|
NM_139058.3(ARX):c.678C>G (p.Asp226Glu)
|
rs764730866
|
|
|
NM_139058.3(ARX):c.681G>A (p.Glu227=)
|
|
|
|
NM_139058.3(ARX):c.690G>T (p.Leu230=)
|
|
|
|
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del)
|
rs1556055511
|
|
|
NM_139058.3(ARX):c.711G>A (p.Glu237=)
|
|
|
|
NM_139058.3(ARX):c.713A>T (p.Asp238Val)
|
|
|
|
NM_139058.3(ARX):c.714C>G (p.Asp238Glu)
|
rs2048710190
|
|
|
NM_139058.3(ARX):c.714C>T (p.Asp238=)
|
|
|
|
NM_139058.3(ARX):c.717G>A (p.Glu239=)
|
|
|
|
NM_139058.3(ARX):c.729G>A (p.Leu243=)
|
|
|
|
NM_139058.3(ARX):c.731T>C (p.Leu244Pro)
|
|
|
|
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1])
|
rs1473310605
|
|
|
NM_139058.3(ARX):c.747G>A (p.Glu249=)
|
rs797045305
|
|
|
NM_139058.3(ARX):c.748G>A (p.Glu250Lys)
|
|
|
|
NM_139058.3(ARX):c.756G>C (p.Leu252=)
|
|
|
|
NM_139058.3(ARX):c.762C>T (p.Asp254=)
|
|
|
|
NM_139058.3(ARX):c.765C>T (p.Asp255=)
|
|
|
|
NM_139058.3(ARX):c.766G>A (p.Ala256Thr)
|
rs769056463
|
|
|
NM_139058.3(ARX):c.766G>C (p.Ala256Pro)
|
rs769056463
|
|
|
NM_139058.3(ARX):c.769C>G (p.Arg257Gly)
|
rs1475419182
|
|
|
NM_139058.3(ARX):c.769C>T (p.Arg257Cys)
|
|
|
|
NM_139058.3(ARX):c.770G>A (p.Arg257His)
|
|
|
|
NM_139058.3(ARX):c.771C>T (p.Arg257=)
|
rs1601948418
|
|
|
NM_139058.3(ARX):c.773C>A (p.Ala258Glu)
|
rs759399062
|
|
|
NM_139058.3(ARX):c.774G>C (p.Ala258=)
|
|
|
|
NM_139058.3(ARX):c.780C>T (p.Leu260=)
|
|
|
|
NM_139058.3(ARX):c.787C>T (p.Pro263Ser)
|
rs2147323801
|
|
|
NM_139058.3(ARX):c.790C>A (p.Arg264=)
|
|
|
|
NM_139058.3(ARX):c.808G>A (p.Ala270Thr)
|
rs1057520487
|
|
|
NM_139058.3(ARX):c.810C>T (p.Ala270=)
|
|
|
|
NM_139058.3(ARX):c.813T>C (p.Thr271=)
|
|
|
|
NM_139058.3(ARX):c.816C>T (p.Gly272=)
|
|
|
|
NM_139058.3(ARX):c.822G>A (p.Val274=)
|
|
|
|
NM_139058.3(ARX):c.825C>A (p.Ala275=)
|
|
|
|
NM_139058.3(ARX):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_139058.3(ARX):c.831A>G (p.Ala277=)
|
|
|
|
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)
|
|
|
|
NM_139058.3(ARX):c.858C>T (p.Gly286=)
|
|
|
|
NM_139058.3(ARX):c.85A>G (p.Ile29Val)
|
|
|
|
NM_139058.3(ARX):c.865C>T (p.Leu289=)
|
|
|
|
NM_139058.3(ARX):c.86T>C (p.Ile29Thr)
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rs2147325441
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NM_139058.3(ARX):c.87C>G (p.Ile29Met)
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rs148694386
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NM_139058.3(ARX):c.887T>C (p.Leu296Pro)
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NM_139058.3(ARX):c.893A>T (p.His298Leu)
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NM_139058.3(ARX):c.899A>C (p.Glu300Ala)
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NM_139058.3(ARX):c.904G>C (p.Ala302Pro)
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rs146224124
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NM_139058.3(ARX):c.921C>T (p.Gly307=)
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rs398124519
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NM_139058.3(ARX):c.924G>A (p.Glu308=)
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NM_139058.3(ARX):c.927C>T (p.Asp309=)
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NM_139058.3(ARX):c.930C>T (p.Ser310=)
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rs1569395305
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NM_139058.3(ARX):c.936C>T (p.Cys312=)
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NM_139058.3(ARX):c.944C>T (p.Ala315Val)
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rs2048708779
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NM_139058.3(ARX):c.945G>A (p.Ala315=)
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rs1310022652
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NM_139058.3(ARX):c.948C>T (p.Gly316=)
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NM_139058.3(ARX):c.951C>T (p.Ser317=)
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rs2048708727
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NM_139058.3(ARX):c.956C>A (p.Ser319Ter)
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rs2048708701
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NM_139058.3(ARX):c.988C>T (p.Arg330Cys)
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NM_139058.3(ARX):c.993C>T (p.Tyr331=)
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NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
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rs2147323593
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NM_139058.3(ARX):c.995G>A (p.Arg332His)
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rs111033612
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