|
NM_000828.4(GRIA3):c.-2G=
|
rs58044961
|
1.00000
|
|
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=)
|
rs426298
|
0.99420
|
|
NM_016032.4(ZDHHC9):c.487+15A>G
|
rs2275605
|
0.92100
|
|
NM_005765.3(ATP6AP2):c.534+45G>C
|
rs3112299
|
0.91713
|
|
NM_004187.5(KDM5C):c.2243+11G>T
|
rs1977364
|
0.81756
|
|
NM_001015877.2(PHF6):c.139-47G>A
|
rs5978001
|
0.75584
|
|
NM_080632.3(UPF3B):c.264-34G>A
|
rs2428212
|
0.66050
|
|
NM_024528.4(NKAP):c.923+6C>T
|
rs194302
|
0.60390
|
|
NM_007325.5(GRIA3):c.751-16T>C
|
rs550640
|
0.58620
|
|
NM_006517.5(SLC16A2):c.1399+43T>G
|
rs5937843
|
0.57946
|
|
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=)
|
rs502434
|
0.57798
|
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
|
NM_001415.4(EIF2S3):c.99C>T (p.His33=)
|
rs36018672
|
0.51303
|
|
NM_004595.5(SMS):c.170+30C>T
|
rs3747276
|
0.51062
|
|
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln)
|
rs3088074
|
0.50884
|
|
NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
|
NM_006950.3(SYN1):c.775-8085A>G
|
rs4898
|
0.46249
|
|
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=)
|
rs6638360
|
0.40138
|
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
|
NM_001081550.2(THOC2):c.3058-9C>T
|
rs2072914
|
0.35686
|
|
NM_031407.7(HUWE1):c.5716+37T>G
|
rs266786
|
0.34800
|
|
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=)
|
rs3747282
|
0.29345
|
|
NM_001039591.3(USP9X):c.3558+16T>C
|
rs5918130
|
0.27842
|
|
NM_001081550.2(THOC2):c.2317-47A>G
|
rs3764750
|
0.26774
|
|
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=)
|
rs2230488
|
0.24795
|
|
NM_005120.3(MED12):c.4415+29T>C
|
rs10521349
|
0.23097
|
|
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.205-38C>T
|
rs12850852
|
0.22082
|
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
|
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
|
NM_006013.5(RPL10):c.-24+3G>A
|
rs915942
|
0.18464
|
|
NM_005120.3(MED12):c.3354+27G>C
|
rs5030617
|
0.15058
|
|
NM_001079872.2(CUL4B):c.1174-20G>A
|
rs5957408
|
0.14035
|
|
NM_015107.3(PHF8):c.2650-35C>G
|
rs7886772
|
0.13065
|
|
NM_005120.3(MED12):c.2422+30C>T
|
rs2075790
|
0.12776
|
|
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=)
|
rs7691
|
0.11555
|
|
NM_004595.5(SMS):c.866-32T>C
|
rs2071136
|
0.09321
|
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
|
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_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_019597.5(HNRNPH2):c.1320C>T (p.Asn440=)
|
rs3027574
|
0.03836
|
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
|
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_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
|
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro)
|
rs35798522
|
0.02009
|
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
|
NM_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
|
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_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
|
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_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
|
NM_001110556.2(FLNA):c.4598+8G>C
|
rs112379782
|
0.01252
|
|
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158
|
0.01245
|
|
NM_006950.3(SYN1):c.838-8T>G
|
rs12394306
|
0.01234
|
|
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595
|
0.01179
|
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
|
NM_001110556.2(FLNA):c.869-7C>T
|
rs143311779
|
0.01084
|
|
NM_004187.5(KDM5C):c.564G>A (p.Lys188=)
|
rs61751437
|
0.01076
|
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
|
NM_007363.5(NONO):c.154+11G>C
|
rs142366840
|
0.01069
|
|
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=)
|
rs143752287
|
0.01066
|
|
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_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)
|
rs11573531
|
0.00965
|
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
|
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_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
|
NM_001356.5(DDX3X):c.104-10A>T
|
rs112766093
|
0.00708
|
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
|
NM_031407.7(HUWE1):c.963+18T>C
|
rs145428690
|
0.00694
|
|
NM_001015877.2(PHF6):c.729+4A>G
|
rs188961105
|
0.00691
|
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
|
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_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
|
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)
|
rs61730217
|
0.00593
|
|
NM_031407.7(HUWE1):c.6030+20G>A
|
rs144140925
|
0.00590
|
|
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=)
|
rs139718656
|
0.00549
|
|
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
|
rs142094773
|
0.00541
|
|
NM_001039591.3(USP9X):c.3028-7A>G
|
rs115310559
|
0.00514
|
|
NM_016032.4(ZDHHC9):c.-204+6G>T
|
rs3747339
|
0.00480
|
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
|
NM_001330360.2(POLA1):c.1687-15C>T
|
rs11573348
|
0.00442
|
|
NM_000489.6(ATRX):c.485-17C>G
|
rs193223073
|
0.00422
|
|
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)
|
rs139619000
|
0.00414
|
|
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met)
|
rs138108344
|
0.00403
|
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
|
NM_001079872.2(CUL4B):c.777-12C>T
|
rs192860595
|
0.00395
|
|
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)
|
rs143580749
|
0.00390
|
|
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)
|
rs2230928
|
0.00390
|
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561
|
0.00385
|
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
|
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613
|
0.00368
|
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
|
NM_001015877.2(PHF6):c.730-11T>G
|
rs192977933
|
0.00364
|
|
NM_001015877.2(PHF6):c.374+8T>C
|
rs142596708
|
0.00360
|
|
NM_001079872.2(CUL4B):c.2161-15T>G
|
rs183114462
|
0.00355
|
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
|
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_001110556.2(FLNA):c.1582G>A (p.Val528Met)
|
rs143873938
|
0.00313
|
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
|
NM_001830.4(CLCN4):c.1758G>A (p.Val586=)
|
rs143437511
|
0.00287
|
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
|
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_016032.4(ZDHHC9):c.167+10G>A
|
rs140526450
|
0.00244
|
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
|
NM_001032382.2(PQBP1):c.-18-69C>T
|
rs150603792
|
0.00229
|
|
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_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
|
NM_005120.3(MED12):c.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
|
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys)
|
rs142862074
|
0.00211
|
|
NM_001079872.2(CUL4B):c.1257-19T>C
|
rs201629851
|
0.00205
|
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
|
NM_016032.4(ZDHHC9):c.777+16C>T
|
rs193236859
|
0.00196
|
|
NM_006950.3(SYN1):c.528-19C>T
|
rs190935498
|
0.00192
|
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
|
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His)
|
rs143538947
|
0.00170
|
|
NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly)
|
rs144727288
|
0.00169
|
|
NM_006950.3(SYN1):c.980+14C>T
|
rs376734047
|
0.00157
|
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
|
NM_001184880.2(PCDH19):c.3280C>G (p.Leu1094Val)
|
rs184545774
|
0.00151
|
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
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_001123385.2(BCOR):c.4680G>A (p.Thr1560=)
|
rs146007249
|
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_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
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_001353921.2(ARHGEF9):c.49A>G (p.Ile17Val)
|
rs55868891
|
0.00125
|
|
NM_002547.3(OPHN1):c.702+11A>C
|
rs375325266
|
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_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
|
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_004586.3(RPS6KA3):c.139A>G (p.Ile47Val)
|
rs140987045
|
0.00109
|
|
NM_006950.3(SYN1):c.1107C>T (p.Ile369=)
|
rs150248483
|
0.00107
|
|
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_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
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_001110556.2(FLNA):c.1239G>A (p.Thr413=)
|
rs200278701
|
0.00098
|
|
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=)
|
rs188138322
|
0.00093
|
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
|
NM_000489.6(ATRX):c.5787-20G>T
|
rs185359850
|
0.00090
|
|
NM_001110556.2(FLNA):c.1066-19C>T
|
rs369196285
|
0.00089
|
|
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His)
|
rs151125150
|
0.00083
|
|
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)
|
rs41297324
|
0.00083
|
|
NM_004586.3(RPS6KA3):c.244-5T>C
|
rs192189478
|
0.00083
|
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
|
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr)
|
rs146521598
|
0.00080
|
|
NM_001110556.2(FLNA):c.3805+16G>A
|
rs201016252
|
0.00080
|
|
NM_001110556.2(FLNA):c.720+12C>T
|
rs367894653
|
0.00076
|
|
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_001184880.2(PCDH19):c.3235C>G (p.Pro1079Ala)
|
rs200854927
|
0.00074
|
|
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys)
|
rs202109957
|
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_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
|
NM_001110556.2(FLNA):c.753C>T (p.Asn251=)
|
rs377507152
|
0.00069
|
|
NM_001110556.2(FLNA):c.4142+5_4142+14dup
|
rs782735723
|
0.00067
|
|
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_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
0.00063
|
|
NM_001110556.2(FLNA):c.651C>T (p.Asp217=)
|
rs34644500
|
0.00062
|
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
|
NM_031206.7(LAS1L):c.5C>T (p.Ser2Leu)
|
rs148048579
|
0.00060
|
|
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_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_001110792.2(MECP2):c.414-61C>G
|
rs191076920
|
0.00056
|
|
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=)
|
rs199628956
|
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_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
|
NM_001110556.2(FLNA):c.6907+14G>T
|
rs199934017
|
0.00051
|
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
|
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn)
|
rs200709847
|
0.00049
|
|
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp)
|
rs61730768
|
0.00047
|
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
|
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_006950.3(SYN1):c.1701A>T (p.Thr567=)
|
rs770195822
|
0.00046
|
|
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)
|
rs141145230
|
0.00045
|
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
|
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)
|
rs146403660
|
0.00042
|
|
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_001353921.2(ARHGEF9):c.675G>A (p.Gln225=)
|
rs140777637
|
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_001123385.2(BCOR):c.482C>T (p.Ala161Val)
|
rs142236686
|
0.00038
|
|
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_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
|
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_001081550.2(THOC2):c.1261G>A (p.Ala421Thr)
|
rs145905162
|
0.00036
|
|
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=)
|
rs782651736
|
0.00036
|
|
NM_005120.3(MED12):c.397-12A>T
|
rs192515277
|
0.00036
|
|
NM_001184880.2(PCDH19):c.2617-7A>G
|
rs370859689
|
0.00035
|
|
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=)
|
rs77513704
|
0.00035
|
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
|
NM_001110792.2(MECP2):c.978C>T (p.Ile326=)
|
rs61751446
|
0.00034
|
|
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_004606.5(TAF1):c.4698G>A (p.Arg1566=)
|
rs148007434
|
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_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
|
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=)
|
rs373795773
|
0.00031
|
|
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr)
|
rs148934011
|
0.00031
|
|
NM_005120.3(MED12):c.4416-15T>C
|
rs770290521
|
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_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_004606.5(TAF1):c.4754-4A>G
|
rs370696191
|
0.00029
|
|
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=)
|
rs371501734
|
0.00028
|
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
|
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val)
|
rs371580333
|
0.00027
|
|
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys)
|
rs139646537
|
0.00027
|
|
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro)
|
rs145807475
|
0.00026
|
|
NM_001110556.2(FLNA):c.2656+18A>G
|
rs375154492
|
0.00026
|
|
NM_001184880.2(PCDH19):c.1968T>A (p.Ala656=)
|
rs776150934
|
0.00026
|
|
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=)
|
rs186110059
|
0.00026
|
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
|
NM_005120.3(MED12):c.4528-19T>C
|
rs370859385
|
0.00026
|
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
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_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
|
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_001110556.2(FLNA):c.1229-8C>T
|
rs376190976
|
0.00022
|
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
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_020717.5(SHROOM4):c.436C>T (p.Arg146Trp)
|
rs189694750
|
0.00022
|
|
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=)
|
rs200815004
|
0.00022
|
|
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_003588.4(CUL4B):c.65G>A (p.Gly22Asp)
|
rs145808703
|
0.00021
|
|
NM_006950.3(SYN1):c.1055+12G>A
|
rs373071109
|
0.00021
|
|
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_001353921.2(ARHGEF9):c.946-4C>A
|
rs56398019
|
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_006950.3(SYN1):c.939C>T (p.Asp313=)
|
rs373928763
|
0.00020
|
|
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser)
|
rs369178019
|
0.00019
|
|
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=)
|
rs199530601
|
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_006950.3(SYN1):c.999G>T (p.Gly333=)
|
rs752926074
|
0.00019
|
|
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)
|
rs200862250
|
0.00019
|
|
NM_000489.6(ATRX):c.4215-5G>A
|
rs111833322
|
0.00018
|
|
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)
|
rs398124212
|
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_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_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)
|
rs200982385
|
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_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
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_006950.3(SYN1):c.1369G>C (p.Ala457Pro)
|
rs748323076
|
0.00017
|
|
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_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_080632.3(UPF3B):c.1201C>T (p.Arg401Trp)
|
rs375418085
|
0.00016
|
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
|
NM_001015877.2(PHF6):c.241-13C>T
|
rs375674521
|
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_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
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_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu)
|
rs141738108
|
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_001184880.2(PCDH19):c.3037C>A (p.Arg1013=)
|
rs376406896
|
0.00014
|
|
NM_003491.4(NAA10):c.179+20G>A
|
rs199988253
|
0.00014
|
|
NM_004595.5(SMS):c.114G>A (p.Ser38=)
|
rs138924455
|
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_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_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_001184880.2(PCDH19):c.1700C>G (p.Pro567Arg)
|
rs201989363
|
0.00013
|
|
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
|
rs766355858
|
0.00013
|
|
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)
|
rs150514156
|
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_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_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_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly)
|
rs201434271
|
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_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_001289.6(CLIC2):c.303C>G (p.His101Gln)
|
rs398122917
|
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_005765.3(ATP6AP2):c.19C>T (p.Leu7Phe)
|
rs765852654
|
0.00012
|
|
NM_006950.3(SYN1):c.319G>A (p.Gly107Ser)
|
rs765045862
|
0.00012
|
|
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_001032382.2(PQBP1):c.585C>T (p.Ser195=)
|
rs149688357
|
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_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_002139.4(RBMX):c.389-8T>C
|
rs181515589
|
0.00011
|
|
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly)
|
rs374431961
|
0.00011
|
|
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=)
|
rs782570746
|
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_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_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_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
|
NM_001184880.2(PCDH19):c.942G>A (p.Leu314=)
|
rs773740606
|
0.00010
|
|
NM_001289.6(CLIC2):c.19G>A (p.Gly7Ser)
|
rs782061657
|
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_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_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala)
|
rs201467037
|
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_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_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_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
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_001289.6(CLIC2):c.434G>A (p.Arg145His)
|
rs782037891
|
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_004606.5(TAF1):c.1237G>A (p.Asp413Asn)
|
rs367907623
|
0.00009
|
|
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)
|
rs202158967
|
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_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_007325.5(GRIA3):c.580G>A (p.Gly194Arg)
|
rs189437004
|
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_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
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_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_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)
|
rs139459124
|
0.00008
|
|
NM_001015877.2(PHF6):c.714C>T (p.Ala238=)
|
rs761180935
|
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_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_002547.3(OPHN1):c.1743_1745dup (p.Thr582dup)
|
rs773508976
|
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_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_031206.7(LAS1L):c.99G>C (p.Ser33=)
|
rs779407196
|
0.00008
|
|
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser)
|
rs775715153
|
0.00008
|
|
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_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=)
|
rs200805356
|
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_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_004187.5(KDM5C):c.4304G>A (p.Arg1435His)
|
rs782413552
|
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_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_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln)
|
rs782366216
|
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_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_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_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)
|
rs141368794
|
0.00006
|
|
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)
|
rs192628082
|
0.00006
|
|
NM_004606.5(TAF1):c.2257A>G (p.Ile753Val)
|
rs764849779
|
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_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_031206.7(LAS1L):c.159G>A (p.Gln53=)
|
rs144560954
|
0.00006
|
|
NM_031206.7(LAS1L):c.1911A>G (p.Ala637=)
|
rs201733607
|
0.00006
|
|
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr)
|
rs138433243
|
0.00006
|
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
|
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_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser)
|
rs764843382
|
0.00005
|
|
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=)
|
rs139730174
|
0.00005
|
|
NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp)
|
rs201489630
|
0.00005
|
|
NM_001079872.2(CUL4B):c.139A>G (p.Ser47Gly)
|
rs145134351
|
0.00005
|
|
NM_001081550.2(THOC2):c.2481+42A>G
|
rs780461608
|
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_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
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_001394073.1(HS6ST2):c.652A>C (p.Lys218Gln)
|
rs746316980
|
0.00005
|
|
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly)
|
rs765914103
|
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_004606.5(TAF1):c.428C>T (p.Pro143Leu)
|
rs767354861
|
0.00005
|
|
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)
|
rs758753633
|
0.00005
|
|
NM_004606.5(TAF1):c.5596G>A (p.Asp1866Asn)
|
rs779974166
|
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_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_007325.5(GRIA3):c.466T>C (p.Tyr156His)
|
rs144902457
|
0.00005
|
|
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala)
|
rs748247534
|
0.00005
|
|
NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys)
|
rs782246021
|
0.00005
|
|
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro)
|
rs1557249087
|
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_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_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
|
rs750153892
|
0.00004
|
|
NM_001015877.2(PHF6):c.528A>G (p.Ser176=)
|
rs150815514
|
0.00004
|
|
NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp)
|
rs782792216
|
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_001110792.2(MECP2):c.1250C>T (p.Pro417Leu)
|
rs61753016
|
0.00004
|
|
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)
|
rs61753970
|
0.00004
|
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
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_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)
|
rs756416451
|
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_001830.4(CLCN4):c.1175A>G (p.Gln392Arg)
|
rs761118786
|
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_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_007325.5(GRIA3):c.813G>C (p.Gln271His)
|
rs756316953
|
0.00004
|
|
NM_014927.5(CNKSR2):c.2723C>T (p.Ser908Leu)
|
rs1159715093
|
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_020717.5(SHROOM4):c.775C>A (p.Gln259Lys)
|
rs373402338
|
0.00004
|
|
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=)
|
rs373278066
|
0.00004
|
|
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)
|
rs782526786
|
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.1450C>T (p.Leu484Phe)
|
rs752649243
|
0.00004
|
|
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_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg)
|
rs762464608
|
0.00003
|
|
NM_001015877.2(PHF6):c.342A>C (p.Gln114His)
|
rs1303947958
|
0.00003
|
|
NM_001032382.2(PQBP1):c.*3C>T
|
rs781944808
|
0.00003
|
|
NM_001032382.2(PQBP1):c.*8G>A
|
rs376272913
|
0.00003
|
|
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)
|
rs1467649797
|
0.00003
|
|
NM_001039591.3(USP9X):c.4657C>A (p.Pro1553Thr)
|
rs375616476
|
0.00003
|
|
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)
|
rs751833365
|
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_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
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_001289.6(CLIC2):c.103C>T (p.Arg35Cys)
|
rs1446453794
|
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_001830.4(CLCN4):c.11C>T (p.Ala4Val)
|
rs201381518
|
0.00003
|
|
NM_001830.4(CLCN4):c.2102C>T (p.Pro701Leu)
|
rs763898442
|
0.00003
|
|
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)
|
rs779824005
|
0.00003
|
|
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His)
|
rs782272528
|
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_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_015107.3(PHF8):c.2117A>G (p.Tyr706Cys)
|
rs782680617
|
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_031206.7(LAS1L):c.132C>T (p.Ala44=)
|
rs377215853
|
0.00003
|
|
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met)
|
rs145338657
|
0.00003
|
|
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys)
|
rs782376870
|
0.00003
|
|
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)
|
rs1556915795
|
0.00003
|
|
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val)
|
rs200500110
|
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_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_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile)
|
rs370164571
|
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_001015877.2(PHF6):c.688A>G (p.Ile230Val)
|
rs794727879
|
0.00002
|
|
NM_001032382.2(PQBP1):c.-18-196A>G
|
rs1006576758
|
0.00002
|
|
NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln)
|
rs1249414837
|
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_001081550.2(THOC2):c.2734G>C (p.Ala912Pro)
|
rs1256411821
|
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_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
0.00002
|
|
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu)
|
rs193922676
|
0.00002
|
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
|
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)
|
rs1313448533
|
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_001330360.2(POLA1):c.1834-3C>T
|
rs757070068
|
0.00002
|
|
NM_001330360.2(POLA1):c.1931A>G (p.Asn644Ser)
|
rs1931360275
|
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_001353921.2(ARHGEF9):c.955A>G (p.Ile319Val)
|
rs781938857
|
0.00002
|
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
|
NM_001830.4(CLCN4):c.1820C>T (p.Pro607Leu)
|
rs1042357480
|
0.00002
|
|
NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser)
|
rs767349582
|
0.00002
|
|
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)
|
rs368138282
|
0.00002
|
|
NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu)
|
rs1175919760
|
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_004595.5(SMS):c.1019A>G (p.Glu340Gly)
|
rs751460863
|
0.00002
|
|
NM_004595.5(SMS):c.799G>A (p.Gly267Arg)
|
rs757074790
|
0.00002
|
|
NM_004606.5(TAF1):c.1417A>G (p.Asn473Asp)
|
rs200177996
|
0.00002
|
|
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)
|
rs1358610598
|
0.00002
|
|
NM_004606.5(TAF1):c.2771T>C (p.Ile924Thr)
|
rs1174447128
|
0.00002
|
|
NM_004606.5(TAF1):c.4821+3A>G
|
rs760062431
|
0.00002
|
|
NM_004606.5(TAF1):c.5599A>T (p.Ser1867Cys)
|
rs753892104
|
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.6267+166G>A
|
rs1247198443
|
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_005634.3(SOX3):c.20A>G (p.Asn7Ser)
|
rs1262847980
|
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_007325.5(GRIA3):c.609G>T (p.Arg203Ser)
|
rs147567539
|
0.00002
|
|
NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His)
|
rs750208984
|
0.00002
|
|
NM_015107.3(PHF8):c.-56C>T
|
rs376594438
|
0.00002
|
|
NM_015107.3(PHF8):c.2845C>T (p.Leu949Phe)
|
rs1342892989
|
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_020717.5(SHROOM4):c.1214C>A (p.Pro405His)
|
rs781938996
|
0.00002
|
|
NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe)
|
rs781981612
|
0.00002
|
|
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys)
|
rs782659789
|
0.00002
|
|
NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys)
|
rs782548063
|
0.00002
|
|
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn)
|
rs372119031
|
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_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
|
NM_031407.7(HUWE1):c.8809G>A (p.Gly2937Arg)
|
rs1370251359
|
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_000157.4(GBA1):c.695G>A (p.Gly232Glu)
|
rs1376479747
|
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.1733C>G (p.Thr578Ser)
|
rs782715901
|
0.00001
|
|
NM_000489.6(ATRX):c.1755A>G (p.Glu585=)
|
rs2071369876
|
0.00001
|
|
NM_000489.6(ATRX):c.1766A>C (p.Lys589Thr)
|
rs1557140828
|
0.00001
|
|
NM_000489.6(ATRX):c.177C>T (p.Asn59=)
|
rs782250182
|
0.00001
|
|
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val)
|
rs1557140749
|
0.00001
|
|
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
|
rs1205903424
|
0.00001
|
|
NM_000489.6(ATRX):c.1885C>G (p.Leu629Val)
|
rs1198114357
|
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.3287T>G (p.Leu1096Trp)
|
rs1337990307
|
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.3655G>A (p.Gly1219Arg)
|
rs1057524797
|
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.4862C>T (p.Thr1621Met)
|
rs122445106
|
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.4956+3A>G
|
rs1434725771
|
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_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala)
|
rs747472111
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His)
|
rs201084618
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro)
|
rs894871556
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln)
|
rs1342098183
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp)
|
rs752027152
|
0.00001
|
|
NM_001008537.3(NEXMIF):c.653G>A (p.Arg218Gln)
|
rs747496798
|
0.00001
|
|
NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)
|
rs760978695
|
0.00001
|
|
NM_001015877.2(PHF6):c.240+10T>C
|
rs750243844
|
0.00001
|
|
NM_001015877.2(PHF6):c.247T>G (p.Ser83Ala)
|
rs762897039
|
0.00001
|
|
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=)
|
rs143156492
|
0.00001
|
|
NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp)
|
rs781986555
|
0.00001
|
|
NM_001032382.2(PQBP1):c.642-9C>A
|
rs782015028
|
0.00001
|
|
NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln)
|
rs782596874
|
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_001079872.2(CUL4B):c.95C>T (p.Pro32Leu)
|
rs869320682
|
0.00001
|
|
NM_001081550.2(THOC2):c.2414A>G (p.Asn805Ser)
|
rs769718049
|
0.00001
|
|
NM_001081550.2(THOC2):c.3324G>A (p.Ser1108=)
|
rs375768878
|
0.00001
|
|
NM_001081550.2(THOC2):c.3613G>C (p.Gly1205Arg)
|
rs753209373
|
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.546G>C (p.Gln182His)
|
rs1557179648
|
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_001110792.2(MECP2):c.1394G>A (p.Arg465Gln)
|
rs61753980
|
0.00001
|
|
NM_001110792.2(MECP2):c.413+24C>A
|
rs267608462
|
0.00001
|
|
NM_001184.4(ATR):c.3152G>A (p.Arg1051His)
|
rs770645649
|
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.2599G>A (p.Gly867Ser)
|
rs752424355
|
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_001289.6(CLIC2):c.392C>A (p.Ala131Glu)
|
rs782547045
|
0.00001
|
|
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn)
|
rs774419889
|
0.00001
|
|
NM_001330360.2(POLA1):c.463-9C>T
|
rs778776585
|
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_001356.5(DDX3X):c.1537G>A (p.Val513Ile)
|
rs2063927856
|
0.00001
|
|
NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val)
|
rs1343137006
|
0.00001
|
|
NM_001394073.1(HS6ST2):c.1853C>T (p.Pro618Leu)
|
rs1425420882
|
0.00001
|
|
NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser)
|
rs1314814300
|
0.00001
|
|
NM_001394073.1(HS6ST2):c.916G>C (p.Gly306Arg)
|
rs866919041
|
0.00001
|
|
NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser)
|
rs1015209935
|
0.00001
|
|
NM_001830.4(CLCN4):c.1909G>C (p.Val637Leu)
|
rs376523351
|
0.00001
|
|
NM_001830.4(CLCN4):c.2000G>A (p.Gly667Asp)
|
rs953773970
|
0.00001
|
|
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr)
|
rs1924836688
|
0.00001
|
|
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu)
|
rs1246068842
|
0.00001
|
|
NM_002063.4(GLRA2):c.407A>G (p.Asn136Ser)
|
rs1276905604
|
0.00001
|
|
NM_002063.4(GLRA2):c.754C>T (p.Arg252Cys)
|
rs748764171
|
0.00001
|
|
NM_002139.4(RBMX):c.296C>T (p.Pro99Leu)
|
rs1241455828
|
0.00001
|
|
NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)
|
rs770608210
|
0.00001
|
|
NM_002547.3(OPHN1):c.1201+3A>G
|
rs1482683297
|
0.00001
|
|
NM_002547.3(OPHN1):c.1226G>A (p.Arg409His)
|
rs771624663
|
0.00001
|
|
NM_002547.3(OPHN1):c.148A>G (p.Met50Val)
|
rs367993068
|
0.00001
|
|
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr)
|
rs763066236
|
0.00001
|
|
NM_003491.4(NAA10):c.469G>A (p.Glu157Lys)
|
rs1557107264
|
0.00001
|
|
NM_003491.4(NAA10):c.534C>A (p.Asn178Lys)
|
rs1360898468
|
0.00001
|
|
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr)
|
rs387906729
|
0.00001
|
|
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp)
|
rs199422238
|
0.00001
|
|
NM_004187.5(KDM5C):c.2517-7T>G
|
rs1556838825
|
0.00001
|
|
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr)
|
rs1392496114
|
0.00001
|
|
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)
|
rs146232504
|
0.00001
|
|
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met)
|
rs782205045
|
0.00001
|
|
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp)
|
rs370060257
|
0.00001
|
|
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)
|
rs1556832824
|
0.00001
|
|
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu)
|
rs1556832305
|
0.00001
|
|
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys)
|
rs1245355138
|
0.00001
|
|
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys)
|
rs1556852786
|
0.00001
|
|
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu)
|
rs2073736194
|
0.00001
|
|
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu)
|
rs1428740468
|
0.00001
|
|
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln)
|
rs137861376
|
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_004595.5(SMS):c.872C>A (p.Thr291Lys)
|
rs755701744
|
0.00001
|
|
NM_004595.5(SMS):c.997G>C (p.Gly333Arg)
|
rs1200431087
|
0.00001
|
|
NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln)
|
rs748747814
|
0.00001
|
|
NM_004606.5(TAF1):c.802C>T (p.Arg268Cys)
|
rs1399230018
|
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.2444G>A (p.Arg815Gln)
|
rs762905361
|
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.3210-27C>T
|
rs752463122
|
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.4382C>T (p.Ser1461Leu)
|
rs1458136598
|
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_005634.3(SOX3):c.337G>A (p.Ala113Thr)
|
rs1927341730
|
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_006013.5(RPL10):c.236G>C (p.Ser79Thr)
|
rs782088842
|
0.00001
|
|
NM_006517.5(SLC16A2):c.448G>A (p.Ala150Thr)
|
rs373279555
|
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.340A>G (p.Arg114Gly)
|
rs760804604
|
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_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)
|
rs183018401
|
0.00001
|
|
NM_007325.5(GRIA3):c.424C>T (p.Arg142Cys)
|
rs775540855
|
0.00001
|
|
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val)
|
rs764670975
|
0.00001
|
|
NM_007363.5(NONO):c.107C>T (p.Pro36Leu)
|
rs750695677
|
0.00001
|
|
NM_014927.5(CNKSR2):c.176G>A (p.Arg59His)
|
rs1397199866
|
0.00001
|
|
NM_014927.5(CNKSR2):c.2666C>A (p.Ala889Glu)
|
rs893893504
|
0.00001
|
|
NM_015107.3(PHF8):c.1731-2A>G
|
rs1437750762
|
0.00001
|
|
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln)
|
rs1263803925
|
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.893G>A (p.Arg298Gln)
|
rs869312679
|
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_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys)
|
rs1555988314
|
0.00001
|
|
NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp)
|
rs782753421
|
0.00001
|
|
NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu)
|
rs121434620
|
0.00001
|
|
NM_020717.5(SHROOM4):c.3942+48T>C
|
rs781925536
|
0.00001
|
|
NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His)
|
rs781832862
|
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_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
|
rs375143574
|
0.00001
|
|
NM_031407.7(HUWE1):c.10988C>T (p.Pro3663Leu)
|
rs1556921594
|
0.00001
|
|
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)
|
rs143599552
|
0.00001
|
|
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala)
|
rs781821524
|
0.00001
|
|
NM_031407.7(HUWE1):c.3641C>T (p.Thr1214Met)
|
rs782621365
|
0.00001
|
|
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln)
|
rs781793405
|
0.00001
|
|
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)
|
rs782315292
|
0.00001
|
|
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser)
|
rs1556970140
|
0.00001
|
|
NM_031407.7(HUWE1):c.5662G>A (p.Val1888Met)
|
rs782222601
|
0.00001
|
|
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile)
|
rs782119109
|
0.00001
|
|
NM_031407.7(HUWE1):c.7013G>C (p.Ser2338Thr)
|
rs2062442667
|
0.00001
|
|
NM_031407.7(HUWE1):c.8944C>T (p.Arg2982Trp)
|
rs373845421
|
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.763A>G (p.Arg255Gly)
|
rs985384811
|
0.00001
|
|
NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)
|
rs376175156
|
0.00001
|
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
|
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)
|
rs1557314226
|
0.00001
|
|
GRCh37/hg19 Xq13.2(chrX:73160043-73703398)
|
|
|
|
GRCh37/hg19 Xq24(chrX:118714474-118718137)
|
|
|
|
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)
|
|
|
|
GRCh37/hg19 Xq28(chrX:152372767-155233731)
|
|
|
|
GRCh37/hg19 Xq28(chrX:153174571-153609996)
|
|
|
|
GRCh37/hg19 Xq28(chrX:153217915-153618382)x2
|
|
|
|
GRCh37/hg19 Xq28(chrX:153247464-153522710)x3
|
|
|
|
GRCh37/hg19 Xq28(chrX:153566798-153748208)x4
|
|
|
|
GRCh37/hg19 Xq28(chrX:154124170-154528181)x3
|
|
|
|
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
|
|
|
|
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
|
|
|
|
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
|
|
|
|
GRCh38/hg38 Xq28(chrX:153858452-154332213)x2
|
|
|
|
GRCh38/hg38 Xq28(chrX:153905292-154361918)
|
|
|
|
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
|
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
|
|
NC_000023.10:g.(?_117629935)_(119761021_?)del
|
|
|
|
NC_000023.10:g.(?_118708675)_(119761021_?)dup
|
|
|
|
NC_000023.10:g.(?_118968821)_(118986911_?)dup
|
|
|
|
NC_000023.10:g.(?_128674397)_(128975941_?)dup
|
|
|
|
NC_000023.10:g.(?_128674417)_(129299630_?)del
|
|
|
|
NC_000023.10:g.(?_128946967)_(128948896_?)del
|
|
|
|
NC_000023.10:g.(?_133511648)_(133559360_?)del
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
|
|
|
NC_000023.10:g.(?_152986307)_(153593345_?)dup
|
|
|
|
NC_000023.10:g.(?_153128118)_(153664237_?)dup
|
|
|
|
NC_000023.10:g.(?_153195397)_(153583460_?)dup
|
|
|
|
NC_000023.10:g.(?_153287264)_(153363188_?)dup
|
|
|
|
NC_000023.10:g.(?_153577197)_(153579429_?)dup
|
|
|
|
NC_000023.10:g.(?_153577197)_(153599633_?)dup
|
|
|
|
NC_000023.10:g.(?_153577197)_(153609577_?)dup
|
|
|
|
NC_000023.10:g.(?_153577207)_(153599623_?)dup
|
|
|
|
NC_000023.10:g.(?_153577207)_(153609567_?)dup
|
|
|
|
NC_000023.10:g.(?_153577207)_(153642537_?)dup
|
|
|
|
NC_000023.10:g.(?_153577207)_(153650075_?)dup
|
|
|
|
NC_000023.10:g.(?_153579929)_(153649363_?)dup
|
|
|
|
NC_000023.10:g.(?_153585782)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153586547)_(153609557_?)dup
|
|
|
|
NC_000023.10:g.(?_153592874)_(153593874_?)del
|
|
|
|
NC_000023.10:g.(?_153595748)_(153596947_?)del
|
|
|
|
NC_000023.10:g.(?_153599231)_(153609567_?)del
|
|
|
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
|
NC_000023.10:g.(?_20173516)_(20174387_?)del
|
|
|
|
NC_000023.10:g.(?_20173516)_(20195222_?)dup
|
|
|
|
NC_000023.10:g.(?_20173516)_(20252952_?)dup
|
|
|
|
NC_000023.10:g.(?_20204394)_(20206108_?)del
|
|
|
|
NC_000023.10:g.(?_39911342)_(41782261_?)dup
|
|
|
|
NC_000023.10:g.(?_39911362)_(41782241_?)del
|
|
|
|
NC_000023.10:g.(?_40464793)_(40465007_?)dup
|
|
|
|
NC_000023.10:g.(?_46466387)_(47489243_?)del
|
|
|
|
NC_000023.10:g.(?_46696536)_(47436910_?)dup
|
|
|
|
NC_000023.10:g.(?_47001716)_(50659607_?)dup
|
|
|
|
NC_000023.10:g.(?_47432243)_(47436920_?)del
|
|
|
|
NC_000023.10:g.(?_47432243)_(47479147_?)dup
|
|
|
|
NC_000023.10:g.(?_47464357)_(47479147_?)dup
|
|
|
|
NC_000023.10:g.(?_62857908)_(64196257_?)dup
|
|
|
|
NC_000023.10:g.(?_62875364)_(62944601_?)del
|
|
|
|
NC_000023.10:g.(?_62893898)_(63005025_?)dup
|
|
|
|
NC_000023.10:g.(?_69748945)_(70644108_?)dup
|
|
|
|
NC_000023.10:g.(?_70337406)_(70363304_?)del
|
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)del
|
|
|
|
NC_000023.10:g.(?_70338585)_(70362088_?)dup
|
|
|
|
NC_000023.10:g.(?_70348944)_(70350084_?)dup
|
|
|
|
NC_000023.10:g.(?_70348958)_(70350070_?)dup
|
|
|
|
NC_000023.10:g.(?_70348964)_(70350064_?)dup
|
|
|
|
NC_000023.10:g.(?_76759356)_(77042755_?)del
|
|
|
|
NC_000023.10:g.(?_76759357)_(77042755_?)dup
|
|
|
|
NC_000023.10:g.(?_76763809)_(76972740_?)dup
|
|
|
|
NC_000023.10:g.(?_76763809)_(77041507_?)del
|
|
|
|
NC_000023.10:g.(?_76763809)_(77041507_?)dup
|
|
|
|
NC_000023.10:g.(?_76763829)_(76776414_?)del
|
|
|
|
NC_000023.10:g.(?_76763829)_(76972740_?)dup
|
|
|
|
NC_000023.10:g.(?_76829695)_(77041507_?)dup
|
|
|
|
NC_000023.10:g.(?_76888675)_(77264780_?)dup
|
|
|
|
NC_000023.10:g.(?_76937002)_(76940508_?)del
|
|
|
|
NC_000023.10:g.(?_76937002)_(76972730_?)dup
|
|
|
|
NC_000023.10:g.(?_76944291)_(76972740_?)del
|
|
|
|
NC_000023.10:g.(?_76953051)_(76954137_?)dup
|
|
|
|
NC_000023.10:g.(?_77041448)_(77041487_?)dup
|
|
|
|
NC_000023.10:g.(?_77041448)_(77041507_?)dup
|
|
|
|
NC_000023.10:g.(?_99551255)_(99905882_?)del
|
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)del
|
|
|
|
NC_000023.10:g.(?_99551255)_(99926004_?)dup
|
|
|
|
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_000023.10:g.14693216_14836199del
|
|
|
|
NC_000023.11:g.(155246216_?)_(?_155288781)del
|
|
|
|
NC_000023.11:g.(41853228_41922929)(41923555_?)del
|
|
|
|
NC_000023.11:g.(41853228_41922929)_(41923555_?)del
|
|
|
|
NC_000023.11:g.(74305035_74421492)_(74422068_74520989)del
|
|
|
|
NC_000023.11:g.(74745698_74924882)_(74925453_?)dup
|
|
|
|
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.(?_123184278)_(123490915_?)del
|
|
|
|
NC_000023.11:g.(?_144988272)_(145271978_?)dup
|
|
|
|
NC_000023.11:g.(?_20155378)_(20176518_?)dup
|
|
|
|
NC_000023.11:g.(?_40581046)_(40605775_?)dup
|
|
|
|
NC_000023.11:g.(?_47572844)_(47605399_?)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.155264167_155265545del
|
|
|
|
NC_000023.11:g.68119248_68212212dup
|
|
|
|
NC_000023.11:g.71124975GTT[1]
|
|
|
|
NC_000023.11:g.71141229GCA[3]
|
|
|
|
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3]
|
rs773480549
|
|
|
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
|
|
|
|
NG_008960.1:g.224486-?_245539+?del
|
|
|
|
NG_008960.1:g.337629_355297del
|
|
|
|
NG_011641.2:g.(108110_108560)_(109645_112963)del
|
|
|
|
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.1219C>G (p.Leu407Val)
|
rs1557142145
|
|
|
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.1322C>G (p.Thr441Arg)
|
rs2148625660
|
|
|
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.134-4884_242+41del
|
|
|
|
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.134A>T (p.Asp45Val)
|
rs1557151500
|
|
|
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.1396A>T (p.Arg466Ter)
|
|
|
|
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.1423C>T (p.His475Tyr)
|
rs146863015
|
|
|
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.1466C>T (p.Thr489Ile)
|
|
|
|
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.1655C>G (p.Thr552Ser)
|
rs2071378519
|
|
|
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.1727C>G (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.1955A>T (p.Asp652Val)
|
rs2071357500
|
|
|
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.2011A>T (p.Asn671Tyr)
|
|
|
|
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.2101C>T (p.Arg701Cys)
|
|
|
|
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.2134A>G (p.Lys712Glu)
|
rs2071344958
|
|
|
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.2360G>C (p.Gly787Ala)
|
|
|
|
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.2422C>T (p.Arg808Ter)
|
rs891068548
|
|
|
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)
|
|
|
|
NM_000489.6(ATRX):c.2496T>C (p.Gly832=)
|
rs2148596137
|
|
|
NM_000489.6(ATRX):c.2498C>T (p.Ala833Val)
|
|
|
|
NM_000489.6(ATRX):c.249T>G (p.Pro83=)
|
|
|
|
NM_000489.6(ATRX):c.24A>C (p.Glu8Asp)
|
rs2148752831
|
|
|
NM_000489.6(ATRX):c.24A>G (p.Glu8=)
|
|
|
|
NM_000489.6(ATRX):c.2507C>A (p.Thr836Asn)
|
rs1603219919
|
|
|
NM_000489.6(ATRX):c.2515A>G (p.Lys839Glu)
|
|
|
|
NM_000489.6(ATRX):c.2519G>C (p.Arg840Thr)
|
|
|
|
NM_000489.6(ATRX):c.2519G>T (p.Arg840Ile)
|
|
|
|
NM_000489.6(ATRX):c.2520A>C (p.Arg840Ser)
|
|
|
|
NM_000489.6(ATRX):c.2526A>G (p.Pro842=)
|
|
|
|
NM_000489.6(ATRX):c.252A>C (p.Ser84=)
|
rs2148677928
|
|
|
NM_000489.6(ATRX):c.252A>G (p.Ser84=)
|
rs2148677928
|
|
|
NM_000489.6(ATRX):c.2536G>C (p.Asp846His)
|
|
|
|
NM_000489.6(ATRX):c.2542G>C (p.Asp848His)
|
|
|
|
NM_000489.6(ATRX):c.2547T>C (p.Ser849=)
|
rs2148594824
|
|
|
NM_000489.6(ATRX):c.2549C>T (p.Ser850Phe)
|
|
|
|
NM_000489.6(ATRX):c.2550T>C (p.Ser850=)
|
|
|
|
NM_000489.6(ATRX):c.2555A>G (p.Asp852Gly)
|
|
|
|
NM_000489.6(ATRX):c.2565C>T (p.His855=)
|
rs2148594303
|
|
|
NM_000489.6(ATRX):c.2566A>G (p.Ser856Gly)
|
|
|
|
NM_000489.6(ATRX):c.2574A>T (p.Lys858Asn)
|
|
|
|
NM_000489.6(ATRX):c.2575G>C (p.Gly859Arg)
|
|
|
|
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
|
|
|
|
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
|
|
|
|
NM_000489.6(ATRX):c.2591G>T (p.Gly864Val)
|
rs2148593605
|
|
|
NM_000489.6(ATRX):c.2592G>T (p.Gly864=)
|
rs782526944
|
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
|
NM_000489.6(ATRX):c.2595C>T (p.His865=)
|
rs61752455
|
|
|
NM_000489.6(ATRX):c.2601T>C (p.Asn867=)
|
|
|
|
NM_000489.6(ATRX):c.2604G>C (p.Leu868Phe)
|
rs781808505
|
|
|
NM_000489.6(ATRX):c.2610C>G (p.Thr870=)
|
rs782743152
|
|
|
NM_000489.6(ATRX):c.2610C>T (p.Thr870=)
|
|
|
|
NM_000489.6(ATRX):c.2616A>G (p.Gln872=)
|
|
|
|
NM_000489.6(ATRX):c.261A>C (p.Thr87=)
|
|
|
|
NM_000489.6(ATRX):c.2625A>G (p.Ser875=)
|
|
|
|
NM_000489.6(ATRX):c.2627C>G (p.Ser876Cys)
|
|
|
|
NM_000489.6(ATRX):c.2629G>A (p.Asp877Asn)
|
rs886044896
|
|
|
NM_000489.6(ATRX):c.2633A>G (p.Asp878Gly)
|
rs2071285505
|
|
|
NM_000489.6(ATRX):c.2640A>G (p.Glu880=)
|
rs2148592348
|
|
|
NM_000489.6(ATRX):c.2642G>A (p.Arg881Lys)
|
|
|
|
NM_000489.6(ATRX):c.2647C>A (p.Gln883Lys)
|
rs868926015
|
|
|
NM_000489.6(ATRX):c.264G>A (p.Lys88=)
|
rs782056075
|
|
|
NM_000489.6(ATRX):c.2653A>C (p.Arg885=)
|
rs1603219083
|
|
|
NM_000489.6(ATRX):c.2657A>G (p.Glu886Gly)
|
rs2071282891
|
|
|
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
|
|
|
|
NM_000489.6(ATRX):c.2664C>T (p.Phe888=)
|
|
|
|
NM_000489.6(ATRX):c.2667T>G (p.Ser889=)
|
|
|
|
NM_000489.6(ATRX):c.2673A>G (p.Ala891=)
|
rs2148591602
|
|
|
NM_000489.6(ATRX):c.2674G>A (p.Glu892Lys)
|
rs1603218994
|
|
|
NM_000489.6(ATRX):c.2677G>C (p.Gly893Arg)
|
|
|
|
NM_000489.6(ATRX):c.2678dup (p.Thr894fs)
|
rs2148591494
|
|
|
NM_000489.6(ATRX):c.267T>C (p.Tyr89=)
|
rs2148677803
|
|
|
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile)
|
rs2148591370
|
|
|
NM_000489.6(ATRX):c.2686G>C (p.Asp896His)
|
rs2071279824
|
|
|
NM_000489.6(ATRX):c.2688T>C (p.Asp896=)
|
rs2148591201
|
|
|
NM_000489.6(ATRX):c.2691A>C (p.Lys897Asn)
|
|
|
|
NM_000489.6(ATRX):c.2694C>T (p.Asp898=)
|
|
|
|
NM_000489.6(ATRX):c.2696C>A (p.Thr899Lys)
|
rs782757975
|
|
|
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
|
|
|
|
NM_000489.6(ATRX):c.2703C>T (p.Ile901=)
|
rs2148590818
|
|
|
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
|
|
|
|
NM_000489.6(ATRX):c.2716G>A (p.Asp906Asn)
|
|
|
|
NM_000489.6(ATRX):c.2721A>G (p.Arg907=)
|
|
|
|
NM_000489.6(ATRX):c.2726C>T (p.Pro909Leu)
|
|
|
|
NM_000489.6(ATRX):c.2731A>C (p.Lys911Gln)
|
|
|
|
NM_000489.6(ATRX):c.2752A>G (p.Thr918Ala)
|
rs1603218619
|
|
|
NM_000489.6(ATRX):c.2758G>A (p.Gly920Ser)
|
|
|
|
NM_000489.6(ATRX):c.2769G>A (p.Lys923=)
|
rs2148589245
|
|
|
NM_000489.6(ATRX):c.2770C>A (p.Leu924Ile)
|
rs1569538903
|
|
|
NM_000489.6(ATRX):c.2777G>A (p.Gly926Glu)
|
rs2071271385
|
|
|
NM_000489.6(ATRX):c.2783A>G (p.Glu928Gly)
|
|
|
|
NM_000489.6(ATRX):c.2789G>C (p.Ser930Thr)
|
rs727503817
|
|
|
NM_000489.6(ATRX):c.2796T>C (p.Thr932=)
|
rs2071269397
|
|
|
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
|
|
|
|
NM_000489.6(ATRX):c.2803G>A (p.Glu935Lys)
|
|
|
|
NM_000489.6(ATRX):c.2806G>T (p.Val936Phe)
|
rs149232501
|
|
|
NM_000489.6(ATRX):c.2812A>G (p.Lys938Glu)
|
|
|
|
NM_000489.6(ATRX):c.2814A>G (p.Lys938=)
|
|
|
|
NM_000489.6(ATRX):c.2818G>A (p.Ala940Thr)
|
rs2148588122
|
|
|
NM_000489.6(ATRX):c.2819C>T (p.Ala940Val)
|
rs2071267970
|
|
|
NM_000489.6(ATRX):c.2829A>G (p.Lys943=)
|
rs2148587852
|
|
|
NM_000489.6(ATRX):c.2830G>C (p.Glu944Gln)
|
|
|
|
NM_000489.6(ATRX):c.2830_2832del (p.Glu944del)
|
rs1338172022
|
|
|
NM_000489.6(ATRX):c.2837G>T (p.Ser946Ile)
|
|
|
|
NM_000489.6(ATRX):c.2838C>G (p.Ser946Arg)
|
rs2071266406
|
|
|
NM_000489.6(ATRX):c.2853C>T (p.Thr951=)
|
rs2148587341
|
|
|
NM_000489.6(ATRX):c.2861G>T (p.Cys954Phe)
|
|
|
|
NM_000489.6(ATRX):c.2864A>C (p.Lys955Thr)
|
|
|
|
NM_000489.6(ATRX):c.2866_2868del (p.Lys956del)
|
rs782077612
|
|
|
NM_000489.6(ATRX):c.2870T>C (p.Val957Ala)
|
rs2148587031
|
|
|
NM_000489.6(ATRX):c.2874G>A (p.Gln958=)
|
|
|
|
NM_000489.6(ATRX):c.2876A>G (p.Asp959Gly)
|
|
|
|
NM_000489.6(ATRX):c.2877T>C (p.Asp959=)
|
rs2148586813
|
|
|
NM_000489.6(ATRX):c.2883A>G (p.Leu961=)
|
rs2148586654
|
|
|
NM_000489.6(ATRX):c.2884T>C (p.Ser962Pro)
|
rs2148586632
|
|
|
NM_000489.6(ATRX):c.2897A>G (p.Glu966Gly)
|
|
|
|
NM_000489.6(ATRX):c.2898G>A (p.Glu966=)
|
rs138256318
|
|
|
NM_000489.6(ATRX):c.2906T>C (p.Leu969Pro)
|
rs2071260958
|
|
|
NM_000489.6(ATRX):c.2907A>G (p.Leu969=)
|
rs782330959
|
|
|
NM_000489.6(ATRX):c.2910G>A (p.Lys970=)
|
|
|
|
NM_000489.6(ATRX):c.2918A>G (p.Gln973Arg)
|
rs2148585851
|
|
|
NM_000489.6(ATRX):c.2928A>G (p.Glu976=)
|
|
|
|
NM_000489.6(ATRX):c.2934T>C (p.Ser978=)
|
|
|
|
NM_000489.6(ATRX):c.2935G>C (p.Glu979Gln)
|
|
|
|
NM_000489.6(ATRX):c.2939A>G (p.Asp980Gly)
|
|
|
|
NM_000489.6(ATRX):c.2942A>G (p.Asp981Gly)
|
rs2071258052
|
|
|
NM_000489.6(ATRX):c.2956A>G (p.Lys986Glu)
|
rs2071255335
|
|
|
NM_000489.6(ATRX):c.2961G>A (p.Lys987=)
|
|
|
|
NM_000489.6(ATRX):c.2962G>A (p.Gly988Arg)
|
rs2071254827
|
|
|
NM_000489.6(ATRX):c.2970A>G (p.Glu990=)
|
rs782253066
|
|
|
NM_000489.6(ATRX):c.2971G>A (p.Glu991Lys)
|
rs782574426
|
|
|
NM_000489.6(ATRX):c.2971G>C (p.Glu991Gln)
|
|
|
|
NM_000489.6(ATRX):c.2972A>G (p.Glu991Gly)
|
|
|
|
NM_000489.6(ATRX):c.2973A>G (p.Glu991=)
|
rs2148584456
|
|
|
NM_000489.6(ATRX):c.2974A>G (p.Lys992Glu)
|
rs2148584437
|
|
|
NM_000489.6(ATRX):c.2978A>G (p.Lys993Arg)
|
|
|
|
NM_000489.6(ATRX):c.2988A>G (p.Ser996=)
|
|
|
|
NM_000489.6(ATRX):c.2989G>C (p.Asp997His)
|
|
|
|
NM_000489.6(ATRX):c.2991C>T (p.Asp997=)
|
|
|
|
NM_000489.6(ATRX):c.3001A>C (p.Lys1001Gln)
|
rs2148583946
|
|
|
NM_000489.6(ATRX):c.3003A>C (p.Lys1001Asn)
|
rs782295266
|
|
|
NM_000489.6(ATRX):c.3003A>G (p.Lys1001=)
|
|
|
|
NM_000489.6(ATRX):c.300T>C (p.Asp100=)
|
rs1603243650
|
|
|
NM_000489.6(ATRX):c.3012A>C (p.Lys1004Asn)
|
|
|
|
NM_000489.6(ATRX):c.3013A>G (p.Met1005Val)
|
|
|
|
NM_000489.6(ATRX):c.3018A>G (p.Glu1006=)
|
rs2148583558
|
|
|
NM_000489.6(ATRX):c.3028G>A (p.Glu1010Lys)
|
|
|
|
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
|
|
|
|
NM_000489.6(ATRX):c.3048T>C (p.Thr1016=)
|
|
|
|
NM_000489.6(ATRX):c.3063G>A (p.Glu1021=)
|
rs2071246611
|
|
|
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
|
|
|
|
NM_000489.6(ATRX):c.3066A>G (p.Arg1022=)
|
|
|
|
NM_000489.6(ATRX):c.306T>G (p.Thr102=)
|
|
|
|
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
|
|
|
|
NM_000489.6(ATRX):c.3075T>G (p.Ile1025Met)
|
rs2148582142
|
|
|
NM_000489.6(ATRX):c.3086C>T (p.Pro1029Leu)
|
|
|
|
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
|
|
|
|
NM_000489.6(ATRX):c.3090G>C (p.Lys1030Asn)
|
|
|
|
NM_000489.6(ATRX):c.3092G>A (p.Gly1031Asp)
|
rs782088552
|
|
|
NM_000489.6(ATRX):c.3094A>G (p.Ile1032Val)
|
|
|
|
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
|
|
|
|
NM_000489.6(ATRX):c.3108G>A (p.Lys1036=)
|
|
|
|
NM_000489.6(ATRX):c.3111T>C (p.Asn1037=)
|
|
|
|
NM_000489.6(ATRX):c.3112G>A (p.Gly1038Arg)
|
|
|
|
NM_000489.6(ATRX):c.3120T>G (p.Thr1040=)
|
rs2148581284
|
|
|
NM_000489.6(ATRX):c.3122A>T (p.Asp1041Val)
|
|
|
|
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
|
|
|
|
NM_000489.6(ATRX):c.3137_3145del (p.Ser1046_Lys1048del)
|
rs781799810
|
|
|
NM_000489.6(ATRX):c.3145A>G (p.Ile1049Val)
|
|
|
|
NM_000489.6(ATRX):c.3146T>C (p.Ile1049Thr)
|
|
|
|
NM_000489.6(ATRX):c.3152A>G (p.Asp1051Gly)
|
rs1557138081
|
|
|
NM_000489.6(ATRX):c.3153T>C (p.Asp1051=)
|
rs1453641319
|
|
|
NM_000489.6(ATRX):c.3166A>G (p.Lys1056Glu)
|
|
|
|
NM_000489.6(ATRX):c.3170A>T (p.Lys1057Met)
|
rs2071238285
|
|
|
NM_000489.6(ATRX):c.3173A>G (p.Asp1058Gly)
|
|
|
|
NM_000489.6(ATRX):c.3178T>C (p.Leu1060=)
|
rs2148580080
|
|
|
NM_000489.6(ATRX):c.3180A>G (p.Leu1060=)
|
|
|
|
NM_000489.6(ATRX):c.3196A>G (p.Lys1066Glu)
|
|
|
|
NM_000489.6(ATRX):c.3200C>T (p.Ser1067Leu)
|
rs2071236443
|
|
|
NM_000489.6(ATRX):c.3205G>A (p.Gly1069Arg)
|
|
|
|
NM_000489.6(ATRX):c.3209A>C (p.Lys1070Thr)
|
|
|
|
NM_000489.6(ATRX):c.320C>T (p.Ala107Val)
|
|
|
|
NM_000489.6(ATRX):c.3214G>C (p.Asp1072His)
|
|
|
|
NM_000489.6(ATRX):c.3219T>C (p.Ser1073=)
|
|
|
|
NM_000489.6(ATRX):c.3220T>C (p.Cys1074Arg)
|
|
|
|
NM_000489.6(ATRX):c.3226T>G (p.Ser1076Ala)
|
|
|
|
NM_000489.6(ATRX):c.3231A>G (p.Ser1077=)
|
|
|
|
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.3318T>A (p.Asp1106Glu)
|
rs2148576296
|
|
|
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.3535G>A (p.Val1179Ile)
|
rs1569538665
|
|
|
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.3649G>A (p.Gly1217Ser)
|
|
|
|
NM_000489.6(ATRX):c.3654G>A (p.Glu1218=)
|
|
|
|
NM_000489.6(ATRX):c.3676del (p.Ile1226fs)
|
rs2148567280
|
|
|
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.3813T>G (p.Ile1271Met)
|
rs2070142302
|
|
|
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.399_400dup (p.Leu134fs)
|
|
|
|
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.4103G>T (p.Gly1368Val)
|
rs2148487205
|
|
|
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.4199A>T (p.Gln1400Leu)
|
rs2069567164
|
|
|
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.4317G>A (p.Lys1439=)
|
rs1569535642
|
|
|
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.4558-3T>G
|
rs1602996115
|
|
|
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.4654G>T (p.Val1552Phe)
|
rs1602995714
|
|
|
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.477del (p.Lys159fs)
|
rs1603240572
|
|
|
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.4825C>T (p.His1609Tyr)
|
|
|
|
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg)
|
rs122445093
|
|
|
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.4840T>C (p.Cys1614Arg)
|
rs122445094
|
|
|
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>A
|
rs1225852818
|
|
|
NM_000489.6(ATRX):c.485-7C>G
|
rs1225852818
|
|
|
NM_000489.6(ATRX):c.4852G>C (p.Asp1618His)
|
|
|
|
NM_000489.6(ATRX):c.4865C>T (p.Ala1622Val)
|
rs1135401793
|
|
|
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.4950G>T (p.Lys1650Asn)
|
rs122445095
|
|
|
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.4957-4A>G
|
rs1602979818
|
|
|
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.4981C>T (p.Arg1661Cys)
|
|
|
|
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.5039T>C (p.Ile1680Thr)
|
rs1557106482
|
|
|
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)
|
rs1602979414
|
|
|
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.5080A>G (p.Asn1694Asp)
|
rs2068193669
|
|
|
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.5124G>T (p.Leu1708Phe)
|
rs1602978896
|
|
|
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.5137C>T (p.Pro1713Ser)
|
rs2148272498
|
|
|
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.5225G>A (p.Arg1742Lys)
|
rs122445104
|
|
|
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.5273-10T>A
|
rs2148261114
|
|
|
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.5281A>G (p.Met1761Val)
|
rs2148260943
|
|
|
NM_000489.6(ATRX):c.5289T>C (p.Asn1763=)
|
|
|
|
NM_000489.6(ATRX):c.5302A>T (p.Asn1768Tyr)
|
|
|
|
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.536A>G (p.Asn179Ser)
|
rs398123425
|
|
|
NM_000489.6(ATRX):c.5370A>G (p.Ala1790=)
|
|
|
|
NM_000489.6(ATRX):c.5377A>C (p.Thr1793Pro)
|
rs1569531570
|
|
|
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.5405A>C (p.Lys1802Thr)
|
rs1602876401
|
|
|
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.5449-7A>G
|
rs2067371776
|
|
|
NM_000489.6(ATRX):c.5449-9T>A
|
rs2148245921
|
|
|
NM_000489.6(ATRX):c.5454A>G (p.Lys1818=)
|
|
|
|
NM_000489.6(ATRX):c.5461A>G (p.Thr1821Ala)
|
rs2148245541
|
|
|
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.5567G>A (p.Gly1856Asp)
|
|
|
|
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.565C>T (p.His189Tyr)
|
rs2148656473
|
|
|
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.568C>G (p.Pro190Ala)
|
rs122445103
|
|
|
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.569C>T (p.Pro190Leu)
|
rs1057518708
|
|
|
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.5803A>G (p.Lys1935Glu)
|
rs2148145177
|
|
|
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.6003G>C (p.Trp2001Cys)
|
|
|
|
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.6104A>G (p.Asp2035Gly)
|
rs122445096
|
|
|
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val)
|
rs122445096
|
|
|
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.6122G>A (p.Ser2041Asn)
|
rs1060499658
|
|
|
NM_000489.6(ATRX):c.6125A>G (p.Gln2042Arg)
|
|
|
|
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
|
|
|
|
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.6157T>G (p.Phe2053Val)
|
rs2066171841
|
|
|
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.6227A>C (p.Lys2076Thr)
|
|
|
|
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.6250T>C (p.Tyr2084His)
|
rs122445097
|
|
|
NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)
|
rs2148019913
|
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
|
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)
|
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.6392G>A (p.Arg2131Gln)
|
rs122445101
|
|
|
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.6488A>G (p.Tyr2163Cys)
|
rs122445098
|
|
|
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.6504+5_6504+14del
|
rs2064891953
|
|
|
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.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
|
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.6653C>T (p.Pro2218Leu)
|
rs2147941337
|
|
|
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.6718C>T (p.Leu2240Phe)
|
rs199474698
|
|
|
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
|
|
|
|
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.6742A>G (p.Ile2248Val)
|
|
|
|
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.6793G>A (p.Glu2265Lys)
|
|
|
|
NM_000489.6(ATRX):c.6794A>G (p.Glu2265Gly)
|
rs1557042387
|
|
|
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.7066G>A (p.Ala2356Thr)
|
rs1339589345
|
|
|
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.7117G>T (p.Ala2373Ser)
|
|
|
|
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.715T>C (p.Phe239Leu)
|
rs2071445748
|
|
|
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter)
|
rs122445100
|
|
|
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.7192C>T (p.Gln2398Ter)
|
rs1569515457
|
|
|
NM_000489.6(ATRX):c.7200+10C>A
|
rs781824017
|
|
|
NM_000489.6(ATRX):c.7200+10C>G
|
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.7205del (p.Ile2402fs)
|
rs1569513017
|
|
|
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.729C>G (p.Cys243Trp)
|
rs1057524153
|
|
|
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.7366dup (p.Met2456fs)
|
|
|
|
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.751A>G (p.Lys251Glu)
|
rs1569539477
|
|
|
NM_000489.6(ATRX):c.756G>A (p.Glu252=)
|
|
|
|
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
|
|
|
|
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.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
|
NM_000489.6(ATRX):c.783C>G (p.Asn261Lys)
|
|
|
|
NM_000489.6(ATRX):c.796T>C (p.Tyr266His)
|
rs2071441898
|
|
|
NM_000489.6(ATRX):c.806A>G (p.His269Arg)
|
|
|
|
NM_000489.6(ATRX):c.809C>T (p.Pro270Leu)
|
rs2148637532
|
|
|
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.839G>A (p.Cys280Tyr)
|
rs2071439399
|
|
|
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_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
|
NM_000828.5(GRIA3):c.2359G>A (p.Glu787Lys)
|
|
|
|
NM_000828.5(GRIA3):c.2399A>G (p.Tyr800Cys)
|
|
|
|
NM_001008222.3(ZDHHC9):c.286C>T (p.Arg96Trp)
|
rs1131690786
|
|
|
NM_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile)
|
rs745417882
|
|
|
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)
|
rs886041971
|
|
|
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)
|
rs886041774
|
|
|
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
|
|
|
|
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter)
|
rs2080114203
|
|
|
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys)
|
rs966045847
|
|
|
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer)
|
rs1057518730
|
|
|
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
|
|
|
|
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)
|
rs891017786
|
|
|
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)
|
rs886041701
|
|
|
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs)
|
rs2080113065
|
|
|
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
|
|
|
|
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs)
|
rs727503977
|
|
|
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)
|
rs1556016632
|
|
|
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
|
|
|
|
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
|
|
|
|
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs)
|
rs2080111520
|
|
|
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter)
|
rs2147440717
|
|
|
NM_001008537.3(NEXMIF):c.1769A>T (p.Lys590Met)
|
|
|
|
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala)
|
rs752183295
|
|
|
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs)
|
rs397518479
|
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
|
NM_001008537.3(NEXMIF):c.1993C>T (p.His665Tyr)
|
|
|
|
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
|
|
|
|
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs)
|
rs1556016555
|
|
|
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
|
rs2080109236
|
|
|
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)
|
rs1556016529
|
|
|
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp)
|
rs1556016488
|
|
|
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
|
|
|
|
NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)
|
|
|
|
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys)
|
rs2080106700
|
|
|
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro)
|
rs1216179072
|
|
|
NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs)
|
rs2080105696
|
|
|
NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter)
|
rs2147440006
|
|
|
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)
|
rs797045646
|
|
|
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs)
|
rs1569336024
|
|
|
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter)
|
rs2080104580
|
|
|
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter)
|
rs2147439880
|
|
|
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)
|
rs1569335265
|
|
|
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs)
|
rs875989829
|
|
|
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe)
|
rs1556016358
|
|
|
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter)
|
rs2080102486
|
|
|
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter)
|
rs2147439567
|
|
|
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter)
|
rs2080118279
|
|
|
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)
|
rs2147439499
|
|
|
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter)
|
rs2080101717
|
|
|
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)
|
rs2080101583
|
|
|
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)
|
rs1602211123
|
|
|
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter)
|
rs1060499652
|
|
|
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)
|
|
|
|
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs)
|
rs2147439375
|
|
|
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)
|
rs2147439364
|
|
|
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)
|
rs1556016292
|
|
|
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)
|
rs397518478
|
|
|
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)
|
rs1602210960
|
|
|
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter)
|
rs1181632862
|
|
|
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His)
|
rs1256402686
|
|
|
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
|
|
|
|
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
|
|
|
|
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)
|
rs1299106178
|
|
|
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs)
|
rs1556016224
|
|
|
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs)
|
rs1057518728
|
|
|
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe)
|
rs2080097689
|
|
|
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter)
|
rs1556016802
|
|
|
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro)
|
rs2080097127
|
|
|
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr)
|
rs2080117655
|
|
|
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser)
|
rs747231678
|
|
|
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)
|
rs758719615
|
|
|
NM_001008537.3(NEXMIF):c.67del (p.Val23fs)
|
rs2147442619
|
|
|
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)
|
rs2080116462
|
|
|
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs)
|
rs2147441408
|
|
|
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter)
|
rs2080115999
|
|
|
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val)
|
rs2080115822
|
|
|
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)
|
|
|
|
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)
|
rs878854425
|
|
|
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)
|
rs1556016731
|
|
|
NM_001015877.2(PHF6):c.-47+5G>A
|
rs2077265772
|
|
|
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.113del (p.Lys38fs)
|
rs1057519064
|
|
|
NM_001015877.2(PHF6):c.134G>A (p.Cys45Tyr)
|
rs132630299
|
|
|
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.139-8A>G
|
rs771399346
|
|
|
NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)
|
|
|
|
NM_001015877.2(PHF6):c.157G>T (p.Val53Leu)
|
|
|
|
NM_001015877.2(PHF6):c.22A>T (p.Lys8Ter)
|
rs132630301
|
|
|
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.255C>A (p.Cys85Ter)
|
rs1114167289
|
|
|
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
|
|
|
|
NM_001015877.2(PHF6):c.27dup (p.Gly10fs)
|
rs758791658
|
|
|
NM_001015877.2(PHF6):c.294A>C (p.Thr98=)
|
|
|
|
NM_001015877.2(PHF6):c.296G>T (p.Cys99Phe)
|
rs132630298
|
|
|
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)
|
rs1556013203
|
|
|
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.369T>G (p.Ile123Met)
|
|
|
|
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.376delinsCC (p.Val126fs)
|
|
|
|
NM_001015877.2(PHF6):c.383G>A (p.Cys128Tyr)
|
|
|
|
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.415G>T (p.Glu139Ter)
|
rs770811341
|
|
|
NM_001015877.2(PHF6):c.418+17C>T
|
|
|
|
NM_001015877.2(PHF6):c.418G>A (p.Ala140Thr)
|
rs864309532
|
|
|
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.497G>A (p.Arg166Lys)
|
|
|
|
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.585+1G>A
|
rs2077460481
|
|
|
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.65C>A (p.Ser22Ter)
|
rs1569334260
|
|
|
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)
|
rs1556018932
|
|
|
NM_001015877.2(PHF6):c.686A>G (p.His229Arg)
|
rs104894918
|
|
|
NM_001015877.2(PHF6):c.700A>G (p.Lys234Glu)
|
rs104894917
|
|
|
NM_001015877.2(PHF6):c.729+2T>C
|
|
|
|
NM_001015877.2(PHF6):c.730-16C>A
|
|
|
|
NM_001015877.2(PHF6):c.743G>T (p.Gly248Val)
|
|
|
|
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)
|
rs1556019105
|
|
|
NM_001015877.2(PHF6):c.762A>C (p.Thr254=)
|
|
|
|
NM_001015877.2(PHF6):c.766_768del (p.Ser256del)
|
|
|
|
NM_001015877.2(PHF6):c.769A>G (p.Arg257Gly)
|
rs104894919
|
|
|
NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)
|
rs2077467347
|
|
|
NM_001015877.2(PHF6):c.804A>G (p.Val268=)
|
|
|
|
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)
|
rs1556019107
|
|
|
NM_001015877.2(PHF6):c.823G>A (p.Gly275Arg)
|
rs1602716458
|
|
|
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.890G>T (p.Cys297Phe)
|
|
|
|
NM_001015877.2(PHF6):c.89A>G (p.Gln30Arg)
|
|
|
|
NM_001015877.2(PHF6):c.914G>T (p.Cys305Phe)
|
rs587777489
|
|
|
NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)
|
rs2124252847
|
|
|
NM_001015877.2(PHF6):c.947A>T (p.Asn316Ile)
|
|
|
|
NM_001015877.2(PHF6):c.969-6T>G
|
rs2077504087
|
|
|
NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs)
|
rs2147468376
|
|
|
NM_001032382.2(PQBP1):c.180-306G>A
|
rs2063414930
|
|
|
NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys)
|
rs121917899
|
|
|
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
|
|
|
|
NM_001032382.2(PQBP1):c.292+1G>A
|
rs2147472456
|
|
|
NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp)
|
rs1222724041
|
|
|
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)
|
rs2063344708
|
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
|
NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp)
|
rs28372358
|
|
|
NM_001032382.2(PQBP1):c.431G>A (p.Arg144His)
|
|
|
|
NM_001032382.2(PQBP1):c.457_459del (p.Arg153del)
|
|
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
|
NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs)
|
rs606231193
|
|
|
NM_001032382.2(PQBP1):c.461_462dup (p.Arg155fs)
|
rs606231193
|
|
|
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)
|
rs1602330420
|
|
|
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp)
|
rs200715521
|
|
|
NM_001032382.2(PQBP1):c.530G>A (p.Arg177His)
|
rs1047322213
|
|
|
NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs)
|
rs606231197
|
|
|
NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs)
|
rs2147475642
|
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
|
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs)
|
rs1602332039
|
|
|
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)
|
rs2063444025
|
|
|
NM_001032382.2(PQBP1):c.640dup (p.Arg214fs)
|
rs606231196
|
|
|
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
|
|
|
|
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)
|
rs2063451959
|
|
|
NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg)
|
rs2147479387
|
|
|
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)
|
rs1569510706
|
|
|
NM_001039590.2:c.3466_3879del
|
|
|
|
NM_001039591.3(USP9X):c.1081G>A (p.Val361Met)
|
|
|
|
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter)
|
rs869025592
|
|
|
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter)
|
rs886041595
|
|
|
NM_001039591.3(USP9X):c.1315-284G>T
|
|
|
|
NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
|
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=)
|
rs2062543205
|
|
|
NM_001039591.3(USP9X):c.1812_1815del (p.Gln605fs)
|
rs2147080697
|
|
|
NM_001039591.3(USP9X):c.1840_1843del (p.Thr614fs)
|
rs2147080766
|
|
|
NM_001039591.3(USP9X):c.2089T>C (p.Cys697Arg)
|
|
|
|
NM_001039591.3(USP9X):c.2276G>A (p.Arg759Lys)
|
|
|
|
NM_001039591.3(USP9X):c.2281dup (p.Tyr761fs)
|
|
|
|
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter)
|
rs869025588
|
|
|
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs)
|
rs2147118205
|
|
|
NM_001039591.3(USP9X):c.2633C>T (p.Ser878Leu)
|
|
|
|
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs)
|
rs869025590
|
|
|
NM_001039591.3(USP9X):c.2877+2T>C
|
rs2147123290
|
|
|
NM_001039591.3(USP9X):c.2969A>G (p.His990Arg)
|
|
|
|
NM_001039591.3(USP9X):c.3027+5G>T
|
rs2147124048
|
|
|
NM_001039591.3(USP9X):c.3028-2A>G
|
rs869025589
|
|
|
NM_001039591.3(USP9X):c.323-1G>A
|
|
|
|
NM_001039591.3(USP9X):c.323-1G>C
|
rs5918118
|
|
|
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr)
|
rs1555927212
|
|
|
NM_001039591.3(USP9X):c.3386T>C (p.Met1129Thr)
|
rs2147158621
|
|
|
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter)
|
rs869025591
|
|
|
NM_001039591.3(USP9X):c.4135_4136del (p.Leu1379fs)
|
|
|
|
NM_001039591.3(USP9X):c.44del (p.Asn15fs)
|
rs1555917927
|
|
|
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs)
|
rs1555930128
|
|
|
NM_001039591.3(USP9X):c.4796T>C (p.Met1599Thr)
|
rs2147202009
|
|
|
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly)
|
rs2063039248
|
|
|
NM_001039591.3(USP9X):c.4881A>T (p.Lys1627Asn)
|
|
|
|
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter)
|
rs1555932766
|
|
|
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg)
|
rs2147230302
|
|
|
NM_001039591.3(USP9X):c.52C>T (p.Gln18Ter)
|
rs2062209732
|
|
|
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile)
|
rs2147245804
|
|
|
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter)
|
rs2063213305
|
|
|
NM_001039591.3(USP9X):c.6310C>A (p.Leu2104Ile)
|
|
|
|
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs)
|
rs2063238551
|
|
|
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
|
|
|
|
NM_001039591.3(USP9X):c.6679_6685delinsTCCTG (p.Lys2227_Tyr2229delinsSerTer)
|
rs2147262405
|
|
|
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
|
|
|
|
NM_001039591.3(USP9X):c.6991dup (p.Tyr2331fs)
|
rs2147266578
|
|
|
NM_001039591.3(USP9X):c.7096C>T (p.Arg2366Ter)
|
|
|
|
NM_001039591.3(USP9X):c.771-2A>G
|
|
|
|
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.1108C>T (p.Arg370Ter)
|
rs121434616
|
|
|
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
|
|
|
|
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
|
|
|
|
NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser)
|
rs1300720472
|
|
|
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.1386del (p.Phe462fs)
|
rs1602577238
|
|
|
NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=)
|
|
|
|
NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)
|
|
|
|
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)
|
rs905353542
|
|
|
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
|
|
|
|
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)
|
rs1556206910
|
|
|
NM_001079872.2(CUL4B):c.141CAG[3] (p.Ser49_Asn50insSer)
|
|
|
|
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
|
|
|
|
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)
|
rs1924000101
|
|
|
NM_001079872.2(CUL4B):c.1444-1G>A
|
|
|
|
NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)
|
|
|
|
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)
|
rs2147329944
|
|
|
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)
|
rs1923920343
|
|
|
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)
|
rs1923919394
|
|
|
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.1651T>A (p.Ser551Thr)
|
rs2147328768
|
|
|
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)
|
rs121434615
|
|
|
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)
|
rs1057519396
|
|
|
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)
|
rs1923849803
|
|
|
NM_001079872.2(CUL4B):c.1741+4_1741+7del
|
rs1569389364
|
|
|
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
|
|
|
|
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
|
|
|
|
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)
|
rs1556200641
|
|
|
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
|
|
|
|
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro)
|
rs2147328180
|
|
|
NM_001079872.2(CUL4B):c.1852+1G>T
|
rs797044862
|
|
|
NM_001079872.2(CUL4B):c.1852+3A>G
|
|
|
|
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.197C>A (p.Ser66Tyr)
|
|
|
|
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
|
|
|
|
NM_001079872.2(CUL4B):c.2046+6A>C
|
|
|
|
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)
|
rs2147325555
|
|
|
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.2264_2265dup (p.Glu756Ter)
|
|
|
|
NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)
|
|
|
|
NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)
|
|
|
|
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)
|
|
|
|
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
|
|
|
|
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)
|
|
|
|
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.2523G>C (p.Lys841Asn)
|
rs1556181426
|
|
|
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
|
|
|
|
NM_001079872.2(CUL4B):c.2592+3A>T
|
|
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
|
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)
|
rs1922994124
|
|
|
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)
|
rs768424127
|
|
|
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)
|
rs2147314730
|
|
|
NM_001079872.2(CUL4B):c.279C>A (p.Ser93Arg)
|
|
|
|
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.43G>A (p.Ala15Thr)
|
rs1925231122
|
|
|
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.516del (p.Lys172fs)
|
|
|
|
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.695dup (p.Tyr232Ter)
|
|
|
|
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.784T>A (p.Leu262Met)
|
rs1379343211
|
|
|
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.847-2A>G
|
rs786200913
|
|
|
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)
|
rs866840262
|
|
|
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
|
|
|
|
NM_001079872.2(CUL4B):c.920+9G>A
|
|
|
|
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
|
|
|
|
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.953_957del (p.Ile318fs)
|
rs1085307760
|
|
|
NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)
|
|
|
|
NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)
|
|
|
|
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)
|
|
|
|
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)
|
|
|
|
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)
|
rs1924204795
|
|
|
NM_001081550.2(THOC2):c.1010T>C (p.Val337Ala)
|
|
|
|
NM_001081550.2(THOC2):c.1313T>C (p.Leu438Pro)
|
rs797045018
|
|
|
NM_001081550.2(THOC2):c.133T>A (p.Phe45Ile)
|
rs1569441509
|
|
|
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser)
|
rs1603326578
|
|
|
NM_001081550.2(THOC2):c.1550A>G (p.Tyr517Cys)
|
rs1556036052
|
|
|
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr)
|
rs2147667154
|
|
|
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)
|
rs2047665750
|
|
|
NM_001081550.2(THOC2):c.195G>C (p.Gln65His)
|
rs2050956716
|
|
|
NM_001081550.2(THOC2):c.1967A>G (p.Asp656Gly)
|
rs2047664414
|
|
|
NM_001081550.2(THOC2):c.1996A>G (p.Asn666Asp)
|
rs1603255389
|
|
|
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)
|
rs1556024875
|
|
|
NM_001081550.2(THOC2):c.2138G>A (p.Gly713Asp)
|
rs1556023928
|
|
|
NM_001081550.2(THOC2):c.2170A>G (p.Lys724Glu)
|
rs1603252573
|
|
|
NM_001081550.2(THOC2):c.229C>T (p.Arg77Cys)
|
rs1556302160
|
|
|
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
|
|
|
|
NM_001081550.2(THOC2):c.2399T>C (p.Ile800Thr)
|
rs797045021
|
|
|
NM_001081550.2(THOC2):c.2642A>G (p.Tyr881Cys)
|
rs1603246794
|
|
|
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His)
|
rs2147617004
|
|
|
NM_001081550.2(THOC2):c.2942G>A (p.Cys981Tyr)
|
rs1556017474
|
|
|
NM_001081550.2(THOC2):c.2983T>C (p.Tyr995His)
|
|
|
|
NM_001081550.2(THOC2):c.2993G>A (p.Arg998His)
|
rs1326074013
|
|
|
NM_001081550.2(THOC2):c.3034T>C (p.Ser1012Pro)
|
rs797045020
|
|
|
NM_001081550.2(THOC2):c.3038C>T (p.Thr1013Ile)
|
|
|
|
NM_001081550.2(THOC2):c.317A>G (p.Tyr106Cys)
|
|
|
|
NM_001081550.2(THOC2):c.3223C>T (p.Arg1075Trp)
|
rs1603242504
|
|
|
NM_001081550.2(THOC2):c.3300G>T (p.Trp1100Cys)
|
rs1603242447
|
|
|
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)
|
rs2047177327
|
|
|
NM_001081550.2(THOC2):c.3323C>T (p.Ser1108Leu)
|
rs1556015593
|
|
|
NM_001081550.2(THOC2):c.3361A>G (p.Arg1121Gly)
|
rs1556015553
|
|
|
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)
|
rs2148016775
|
|
|
NM_001081550.2(THOC2):c.3503+4A>C
|
rs1556015437
|
|
|
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)
|
rs1556014935
|
|
|
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His)
|
rs1556014537
|
|
|
NM_001081550.2(THOC2):c.4135G>T (p.Val1379Phe)
|
|
|
|
NM_001081550.2(THOC2):c.4226G>A (p.Arg1409His)
|
|
|
|
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
|
|
|
|
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=)
|
rs367878305
|
|
|
NM_001081550.2(THOC2):c.4450-2A>G
|
rs1556005930
|
|
|
NM_001081550.2(THOC2):c.4519+3A>G
|
rs2046785257
|
|
|
NM_001081550.2(THOC2):c.4643A>C (p.Glu1548Ala)
|
|
|
|
NM_001081550.2(THOC2):c.4646A>G (p.Lys1549Arg)
|
rs1603229932
|
|
|
NM_001081550.2(THOC2):c.4678-572_*18+1195del
|
|
|
|
NM_001081550.2(THOC2):c.623A>G (p.Asn208Ser)
|
|
|
|
NM_001081550.2(THOC2):c.769-20dup
|
rs201356571
|
|
|
NM_001081550.2(THOC2):c.937C>T (p.Leu313Phe)
|
rs797045019
|
|
|
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.1204A>G (p.Thr402Ala)
|
rs1569551838
|
|
|
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>A (p.Asp1184Glu)
|
rs80338837
|
|
|
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.3562G>A (p.Ala1188Thr)
|
rs28935472
|
|
|
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.4314C>G (p.Phe1438Leu)
|
rs1557177412
|
|
|
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.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
|
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.5183G>T (p.Gly1728Val)
|
rs2148107380
|
|
|
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.5621G>C (p.Gly1874Ala)
|
|
|
|
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>A
|
rs111542756
|
|
|
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.6904C>T (p.Pro2302Ser)
|
rs201008265
|
|
|
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_001110792.1(MECP2):c.-46_-45delGC
|
rs782107551
|
|
|
NM_001110792.2(MECP2):c.-27_-26delinsTT
|
rs786205039
|
|
|
NM_001110792.2(MECP2):c.-31AG[2]
|
rs587783128
|
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
|
NM_001110792.2(MECP2):c.112del (p.Leu38fs)
|
rs61754426
|
|
|
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)
|
|
|
|
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)
|
rs1557135315
|
|
|
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)
|
rs2148661028
|
|
|
NM_001110792.2(MECP2):c.1147dup (p.His383fs)
|
rs1057519404
|
|
|
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
|
|
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
|
NM_001110792.2(MECP2):c.1173del (p.Val392fs)
|
rs1557135793
|
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
|
rs1557135793
|
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
|
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs)
|
rs267608329
|
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
|
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs)
|
rs267608590
|
|
|
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)
|
rs1557134946
|
|
|
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
|
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter)
|
rs61753965
|
|
|
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs)
|
rs786205036
|
|
|
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)
|
rs61753973
|
|
|
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)
|
rs2065902096
|
|
|
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs)
|
rs267608426
|
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
|
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)
|
rs267608399
|
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
|
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
|
|
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
|
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln)
|
rs61754457
|
|
|
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)
|
rs2148770984
|
|
|
NM_001110792.2(MECP2):c.413+5G>A
|
rs2148666320
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
|
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly)
|
rs61748392
|
|
|
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
|
|
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
|
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys)
|
rs786205046
|
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
|
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)
|
|
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
|
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser)
|
rs61748426
|
|
|
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
|
|
|
|
NM_001110792.2(MECP2):c.618dup (p.Gly207fs)
|
rs2148663602
|
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
|
NM_001110792.2(MECP2):c.642del (p.Thr215fs)
|
rs2148663473
|
|
|
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup)
|
rs398123566
|
|
|
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu)
|
rs61749715
|
|
|
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)
|
rs61749737
|
|
|
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)
|
rs1209806388
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
|
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
|
|
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
|
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu)
|
rs61750255
|
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
|
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)
|
rs61751373
|
|
|
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met)
|
rs61751439
|
|
|
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)
|
rs2148661952
|
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
|
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)
|
rs1569548388
|
|
|
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)
|
rs398124312
|
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
|
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.1036A>G (p.Ile346Val)
|
rs1928413482
|
|
|
NM_001184880.2(PCDH19):c.1036_1040dup (p.Asn347fs)
|
rs2147539848
|
|
|
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.1069G>C (p.Glu357Gln)
|
rs868697675
|
|
|
NM_001184880.2(PCDH19):c.106G>A (p.Gly36Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.1074C>T (p.Val358=)
|
|
|
|
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
|
|
|
|
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.1087C>A (p.Pro363Thr)
|
|
|
|
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.1118dup (p.Ser374fs)
|
rs2147539591
|
|
|
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.1153C>G (p.Gln385Glu)
|
rs1928405180
|
|
|
NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter)
|
rs1928405180
|
|
|
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.1172del (p.Asn391fs)
|
rs1602636591
|
|
|
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.117_142dup (p.Glu48fs)
|
|
|
|
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.1206del (p.Ser403fs)
|
|
|
|
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.1238G>C (p.Arg413Pro)
|
rs2147539292
|
|
|
NM_001184880.2(PCDH19):c.1240G>A (p.Glu414Lys)
|
rs796052813
|
|
|
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
|
|
|
|
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.1322T>A (p.Val441Glu)
|
rs132630323
|
|
|
NM_001184880.2(PCDH19):c.132del (p.Asp45fs)
|
rs1602638463
|
|
|
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)
|
rs796052815
|
|
|
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.1343A>G (p.Asp448Gly)
|
rs1928395285
|
|
|
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.134_135del (p.Asp45fs)
|
rs1602638456
|
|
|
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.138_139delinsTT (p.Arg47Ter)
|
rs1555985820
|
|
|
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.142G>T (p.Glu48Ter)
|
rs132630326
|
|
|
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.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
|
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>C (p.Tyr490Ser)
|
rs1555985142
|
|
|
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.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
|
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.1556del (p.Arg519fs)
|
rs2147538465
|
|
|
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.158dup (p.Asp54fs)
|
|
|
|
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.1623del (p.Ser542fs)
|
rs1602635781
|
|
|
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.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
|
NM_001184880.2(PCDH19):c.1671del (p.Asn557fs)
|
rs2147538169
|
|
|
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)
|
rs748611349
|
|
|
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.1682del (p.Pro561fs)
|
rs1602635656
|
|
|
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.1713_1719dup (p.Glu574fs)
|
rs1928369132
|
|
|
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.1728C>G (p.Tyr576Ter)
|
|
|
|
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.1762A>C (p.Thr588Pro)
|
rs2147537859
|
|
|
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.1810A>G (p.Thr604Ala)
|
rs1928365372
|
|
|
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.1849del (p.Glu616_Ile617insTer)
|
|
|
|
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.1919T>C (p.Leu640Pro)
|
rs1928358562
|
|
|
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)
|
rs1928358562
|
|
|
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.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
|
NM_001184880.2(PCDH19):c.1936G>C (p.Asp646His)
|
|
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
|
NM_001184880.2(PCDH19):c.1942G>A (p.Gly648Ser)
|
|
|
|
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)
|
rs796052835
|
|
|
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)
|
rs1928356260
|
|
|
NM_001184880.2(PCDH19):c.1968T>C (p.Ala656=)
|
|
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
|
NM_001184880.2(PCDH19):c.1971C>T (p.Leu657=)
|
|
|
|
NM_001184880.2(PCDH19):c.1973_1999del (p.Val658_Leu666del)
|
|
|
|
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs)
|
rs1928355133
|
|
|
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.2008G>C (p.Glu670Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.2009_2010del (p.Glu670fs)
|
|
|
|
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp)
|
rs868762744
|
|
|
NM_001184880.2(PCDH19):c.2012C>A (p.Ser671Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.2012C>G (p.Ser671Ter)
|
rs132630325
|
|
|
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.2030dup (p.Leu677fs)
|
rs1569314152
|
|
|
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.2056G>A (p.Gly686Ser)
|
|
|
|
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.2130C>G (p.Ile710Met)
|
|
|
|
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.2143dup (p.Cys715fs)
|
|
|
|
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.2298G>C (p.Glu766Asp)
|
rs1928233323
|
|
|
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.2365G>T (p.Val789Leu)
|
rs1928230109
|
|
|
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.2391_2392del (p.Asp797fs)
|
rs2147533347
|
|
|
NM_001184880.2(PCDH19):c.2392A>G (p.Lys798Glu)
|
rs2147533341
|
|
|
NM_001184880.2(PCDH19):c.2398A>C (p.Asn800His)
|
|
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
|
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.2531_2540del (p.Ser844fs)
|
|
|
|
NM_001184880.2(PCDH19):c.2535T>C (p.Ala845=)
|
rs2147533082
|
|
|
NM_001184880.2(PCDH19):c.2539C>G (p.His847Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.253C>T (p.Gln85Ter)
|
rs132630324
|
|
|
NM_001184880.2(PCDH19):c.254A>G (p.Gln85Arg)
|
rs1928470713
|
|
|
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs)
|
rs1928217668
|
|
|
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.2567dup (p.Pro858fs)
|
rs1928216298
|
|
|
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.2587del (p.Asp862_Leu863insTer)
|
|
|
|
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.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
|
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.2624del (p.Asn875fs)
|
rs34651888
|
|
|
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.2697dup (p.Glu900fs)
|
rs1602595101
|
|
|
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.2740C>T (p.Gln914Ter)
|
rs1926264984
|
|
|
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)
|
rs2147542293
|
|
|
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.296G>A (p.Cys99Tyr)
|
rs2147542235
|
|
|
NM_001184880.2(PCDH19):c.2974G>A (p.Ala992Thr)
|
|
|
|
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)
|
rs371109150
|
|
|
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.3001G>A (p.Asp1001Asn)
|
|
|
|
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.3057dup (p.Lys1020fs)
|
rs1924620442
|
|
|
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.317T>A (p.Met106Lys)
|
|
|
|
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)
|
rs2147445956
|
|
|
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.3203C>G (p.Pro1068Arg)
|
|
|
|
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.344_345del (p.Ile115fs)
|
|
|
|
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>G (p.Pro149Ala)
|
rs1928459143
|
|
|
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.475G>C (p.Gly159Arg)
|
|
|
|
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.489_490delinsAT (p.Gln164Ter)
|
rs1555985639
|
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
|
NM_001184880.2(PCDH19):c.490_513del (p.Gln164_Asn171del)
|
rs1928454411
|
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
|
NM_001184880.2(PCDH19):c.496T>G (p.Tyr166Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
|
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.50C>T (p.Thr17Met)
|
|
|
|
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.565G>T (p.Glu189Ter)
|
rs1602637696
|
|
|
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.595G>C (p.Glu199Gln)
|
|
|
|
NM_001184880.2(PCDH19):c.599C>T (p.Thr200Met)
|
|
|
|
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs)
|
rs2147541270
|
|
|
NM_001184880.2(PCDH19):c.601C>A (p.Gln201Lys)
|
rs2147541289
|
|
|
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)
|
rs1928446616
|
|
|
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.612C>A (p.Tyr204Ter)
|
rs1602637608
|
|
|
NM_001184880.2(PCDH19):c.615C>G (p.Ser205Arg)
|
|
|
|
NM_001184880.2(PCDH19):c.615del (p.Phe206fs)
|
rs1928445406
|
|
|
NM_001184880.2(PCDH19):c.617T>A (p.Phe206Tyr)
|
|
|
|
NM_001184880.2(PCDH19):c.618C>T (p.Phe206=)
|
|
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
|
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.626C>A (p.Thr209Asn)
|
rs1928444379
|
|
|
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.676A>G (p.Ile226Val)
|
rs1248114037
|
|
|
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.695A>T (p.Asn232Ile)
|
rs587784299
|
|
|
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>A (p.Tyr243Ter)
|
rs1166554052
|
|
|
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.745del (p.Glu249fs)
|
|
|
|
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.778C>G (p.Leu260Val)
|
|
|
|
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)
|
rs1928431321
|
|
|
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.790G>T (p.Asp264Tyr)
|
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.820_847del (p.Val274fs)
|
rs1928424443
|
|
|
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.83C>A (p.Ser28Ter)
|
rs766962106
|
|
|
NM_001184880.2(PCDH19):c.840C>A (p.Tyr280Ter)
|
|
|
|
NM_001184880.2(PCDH19):c.844A>G (p.Asn282Asp)
|
|
|
|
NM_001184880.2(PCDH19):c.84G>A (p.Ser28=)
|
|
|
|
NM_001184880.2(PCDH19):c.853_854dup (p.Glu287fs)
|
rs1928424117
|
|
|
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.85del (p.Ser28_Val29insTer)
|
rs1928480582
|
|
|
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs)
|
|
|
|
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.919G>A (p.Glu307Lys)
|
rs1569315225
|
|
|
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.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
|
NM_001184880.2(PCDH19):c.940C>A (p.Leu314Met)
|
|
|
|
NM_001184880.2(PCDH19):c.949C>G (p.Gln317Glu)
|
|
|
|
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.959A>T (p.Asp320Val)
|
rs1602636925
|
|
|
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.971del (p.Asn324fs)
|
|
|
|
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.986_987del (p.His329fs)
|
|
|
|
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_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
|
|
|
|
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)
|
rs1772040461
|
|
|
NM_001272071.2(AP1S2):c.*241A>C
|
|
|
|
NM_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
|
NM_001272071.2(AP1S2):c.1-2A>G
|
rs1934209113
|
|
|
NM_001272071.2(AP1S2):c.1-3C>A
|
rs1060499672
|
|
|
NM_001272071.2(AP1S2):c.106C>T (p.Gln36Ter)
|
rs104894739
|
|
|
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter)
|
rs104894735
|
|
|
NM_001272071.2(AP1S2):c.180-5_180-2del
|
rs587776738
|
|
|
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
|
|
|
|
NM_001272071.2(AP1S2):c.226G>T (p.Glu76Ter)
|
rs137852213
|
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
|
NM_001272071.2(AP1S2):c.288+1G>A
|
|
|
|
NM_001272071.2(AP1S2):c.288+5G>A
|
rs587776739
|
|
|
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)
|
rs1933972061
|
|
|
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)
|
rs1555904878
|
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
|
NM_001289.6(CLIC2):c.171G>C (p.Lys57Asn)
|
|
|
|
NM_001330360.2(POLA1):c.254T>G (p.Ile85Ser)
|
rs1569271378
|
|
|
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala)
|
rs2045884607
|
|
|
NM_001330360.2(POLA1):c.3050A>G (p.Asn1017Ser)
|
rs2045884809
|
|
|
NM_001330360.2(POLA1):c.3212A>G (p.Asp1071Gly)
|
|
|
|
NM_001330360.2(POLA1):c.346G>A (p.Gly116Arg)
|
rs1569271892
|
|
|
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
|
|
|
|
NM_001330360.2(POLA1):c.4001A>G (p.Asn1334Ser)
|
|
|
|
NM_001330360.2(POLA1):c.4160C>T (p.Pro1387Leu)
|
rs1569350993
|
|
|
NM_001330360.2(POLA1):c.4313A>T (p.Lys1438Ile)
|
|
|
|
NM_001330360.2(POLA1):c.463-2A>T
|
rs2148341850
|
|
|
NM_001330360.2(POLA1):c.478T>C (p.Ser160Pro)
|
rs2148341883
|
|
|
NM_001330360.2(POLA1):c.525+1G>A
|
rs1569277899
|
|
|
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.1061T>G (p.Met354Arg)
|
|
|
|
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.1077G>A (p.Lys359=)
|
rs1556347185
|
|
|
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.1078-3T>G
|
|
|
|
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.1126G>T (p.Asp376Tyr)
|
|
|
|
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.1306del (p.Glu436fs)
|
rs1602253296
|
|
|
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.1351C>T (p.Gln451Ter)
|
|
|
|
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.1469C>T (p.Pro490Leu)
|
|
|
|
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.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
|
NM_001353921.2(ARHGEF9):c.180G>A (p.Glu60=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala)
|
rs121918361
|
|
|
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+1G>A
|
|
|
|
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.334del (p.Ala112fs)
|
|
|
|
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.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
|
NM_001353921.2(ARHGEF9):c.384C>T (p.His128=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.402+15T>C
|
rs2147507524
|
|
|
NM_001353921.2(ARHGEF9):c.402+1G>A
|
rs2052538764
|
|
|
NM_001353921.2(ARHGEF9):c.402+1G>C
|
|
|
|
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.419G>A (p.Cys140Tyr)
|
|
|
|
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.4C>T (p.Gln2Ter)
|
rs397514460
|
|
|
NM_001353921.2(ARHGEF9):c.503G>A (p.Gly168Asp)
|
|
|
|
NM_001353921.2(ARHGEF9):c.519G>A (p.Leu173=)
|
|
|
|
NM_001353921.2(ARHGEF9):c.536A>G (p.Asn179Ser)
|
rs2051813469
|
|
|
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.562G>C (p.Gly188Arg)
|
rs1556389083
|
|
|
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.653T>C (p.Leu218Pro)
|
|
|
|
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.740del (p.Leu246_Leu247insTer)
|
rs2050407403
|
|
|
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.813_814del (p.His271fs)
|
|
|
|
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.920G>A (p.Trp307Ter)
|
rs1556358991
|
|
|
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
|
|
|
|
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter)
|
rs1569458475
|
|
|
NM_001353921.2(ARHGEF9):c.924G>C (p.Gln308His)
|
|
|
|
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
|
|
|
|
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.971C>T (p.Ser324Leu)
|
rs1602300014
|
|
|
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs)
|
rs2147266023
|
|
|
NM_001356.5(DDX3X):c.1025+1G>A
|
rs2147354193
|
|
|
NM_001356.5(DDX3X):c.103+6T>G
|
rs2147340616
|
|
|
NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)
|
|
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
|
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)
|
rs797045026
|
|
|
NM_001356.5(DDX3X):c.1099dup (p.Gln367fs)
|
rs1555953819
|
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
|
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
|
rs2063908570
|
|
|
NM_001356.5(DDX3X):c.1135_1136del (p.Met379fs)
|
|
|
|
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)
|
rs1555951993
|
|
|
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly)
|
rs1602134248
|
|
|
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
|
|
|
|
NM_001356.5(DDX3X):c.1168C>T (p.Gln390Ter)
|
|
|
|
NM_001356.5(DDX3X):c.1171-1G>C
|
rs1602134459
|
|
|
NM_001356.5(DDX3X):c.1171-2A>C
|
rs2147356545
|
|
|
NM_001356.5(DDX3X):c.1171-2A>G
|
rs2147356545
|
|
|
NM_001356.5(DDX3X):c.1171-8dup
|
rs747987697
|
|
|
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro)
|
rs796052232
|
|
|
NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)
|
|
|
|
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)
|
rs1602134468
|
|
|
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
|
|
|
|
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)
|
rs1064793796
|
|
|
NM_001356.5(DDX3X):c.122C>A (p.Pro41His)
|
rs1341824034
|
|
|
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)
|
|
|
|
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu)
|
rs2147356661
|
|
|
NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)
|
|
|
|
NM_001356.5(DDX3X):c.1251_1252del (p.Lys418fs)
|
rs2147356679
|
|
|
NM_001356.5(DDX3X):c.1261T>G (p.Trp421Gly)
|
rs2147356713
|
|
|
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)
|
rs2147356723
|
|
|
NM_001356.5(DDX3X):c.1274C>G (p.Ser425Ter)
|
rs2147356745
|
|
|
NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)
|
|
|
|
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)
|
rs2063911698
|
|
|
NM_001356.5(DDX3X):c.1315+1G>A
|
rs2063911832
|
|
|
NM_001356.5(DDX3X):c.1316-2A>G
|
rs1602135698
|
|
|
NM_001356.5(DDX3X):c.1329G>T (p.Leu443=)
|
|
|
|
NM_001356.5(DDX3X):c.1354A>T (p.Lys452Ter)
|
|
|
|
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)
|
rs1569234653
|
|
|
NM_001356.5(DDX3X):c.1398C>G (p.Tyr466Ter)
|
|
|
|
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)
|
rs2147358490
|
|
|
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)
|
rs2063923221
|
|
|
NM_001356.5(DDX3X):c.1421A>T (p.Asp474Val)
|
rs2147358546
|
|
|
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)
|
rs1064794574
|
|
|
NM_001356.5(DDX3X):c.1429C>G (p.Gln477Glu)
|
rs1555954105
|
|
|
NM_001356.5(DDX3X):c.1436_1439delinsTCTC (p.Asp479_Arg480delinsValSer)
|
rs2063923605
|
|
|
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly)
|
rs1064796827
|
|
|
NM_001356.5(DDX3X):c.1439G>C (p.Arg480Thr)
|
rs1569240005
|
|
|
NM_001356.5(DDX3X):c.1439_1440insTCTC (p.Arg480fs)
|
|
|
|
NM_001356.5(DDX3X):c.1443dup (p.Glu482fs)
|
rs2147358635
|
|
|
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)
|
rs2063923749
|
|
|
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro)
|
rs2063923789
|
|
|
NM_001356.5(DDX3X):c.1460T>C (p.Phe487Ser)
|
|
|
|
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
|
|
|
|
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)
|
rs796052235
|
|
|
NM_001356.5(DDX3X):c.1463G>C (p.Arg488Pro)
|
rs796052235
|
|
|
NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)
|
|
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
|
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)
|
|
|
|
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)
|
rs796052236
|
|
|
NM_001356.5(DDX3X):c.1511G>A (p.Gly504Glu)
|
rs2063927503
|
|
|
NM_001356.5(DDX3X):c.152-1G>A
|
rs1131691769
|
|
|
NM_001356.5(DDX3X):c.1520T>C (p.Ile507Thr)
|
rs797045024
|
|
|
NM_001356.5(DDX3X):c.1528G>A (p.Val510Met)
|
|
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
|
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)
|
rs1602136369
|
|
|
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
|
|
|
|
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)
|
rs766409654
|
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
|
NM_001356.5(DDX3X):c.1600C>G (p.Arg534Gly)
|
rs1555954284
|
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
|
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu)
|
rs2147359928
|
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
|
NM_001356.5(DDX3X):c.1693C>T (p.Gln565Ter)
|
rs2147360033
|
|
|
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
|
|
|
|
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)
|
rs2147360044
|
|
|
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
|
rs1057519430
|
|
|
NM_001356.5(DDX3X):c.1728T>G (p.Tyr576Ter)
|
rs2063933550
|
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
|
NM_001356.5(DDX3X):c.1769G>A (p.Ser590Asn)
|
|
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
|
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
|
|
|
|
NM_001356.5(DDX3X):c.1922G>A (p.Gly641Asp)
|
|
|
|
NM_001356.5(DDX3X):c.192dup (p.Asp65fs)
|
rs1057519431
|
|
|
NM_001356.5(DDX3X):c.207T>G (p.Tyr69Ter)
|
rs2147348697
|
|
|
NM_001356.5(DDX3X):c.229_230dup (p.Asp77fs)
|
|
|
|
NM_001356.5(DDX3X):c.233C>A (p.Ser78Ter)
|
rs886041589
|
|
|
NM_001356.5(DDX3X):c.250TTC[1] (p.Phe85del)
|
|
|
|
NM_001356.5(DDX3X):c.255del (p.Phe85fs)
|
rs1131691299
|
|
|
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)
|
rs1602127262
|
|
|
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu)
|
rs1057519446
|
|
|
NM_001356.5(DDX3X):c.372_373del (p.Asn124fs)
|
rs1057518171
|
|
|
NM_001356.5(DDX3X):c.381G>A (p.Trp127Ter)
|
|
|
|
NM_001356.5(DDX3X):c.42G>C (p.Gln14His)
|
rs2147332861
|
|
|
NM_001356.5(DDX3X):c.443+3A>T
|
rs2147350644
|
|
|
NM_001356.5(DDX3X):c.453_454del (p.Ser152fs)
|
rs2147350816
|
|
|
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
|
|
|
|
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
|
|
|
|
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter)
|
rs61755357
|
|
|
NM_001356.5(DDX3X):c.538G>T (p.Glu180Ter)
|
|
|
|
NM_001356.5(DDX3X):c.544-8_544-6del
|
rs2063875026
|
|
|
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)
|
rs2063875155
|
|
|
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)
|
rs875989803
|
|
|
NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)
|
|
|
|
NM_001356.5(DDX3X):c.589_590dup (p.Thr198fs)
|
|
|
|
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr)
|
rs1569233520
|
|
|
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
|
|
|
|
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
|
|
|
|
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter)
|
rs869312692
|
|
|
NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)
|
|
|
|
NM_001356.5(DDX3X):c.641_643del (p.Ile214del)
|
rs2063876114
|
|
|
NM_001356.5(DDX3X):c.643A>T (p.Lys215Ter)
|
rs2063876197
|
|
|
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)
|
rs2063876393
|
|
|
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)
|
rs2063876594
|
|
|
NM_001356.5(DDX3X):c.67_72dup (p.Ser24_Asp25insSerSer)
|
|
|
|
NM_001356.5(DDX3X):c.692C>G (p.Thr231Ser)
|
rs2063884615
|
|
|
NM_001356.5(DDX3X):c.693_694del (p.Ala232fs)
|
|
|
|
NM_001356.5(DDX3X):c.71C>A (p.Ser24Ter)
|
rs2147340483
|
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
|
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter)
|
rs752738546
|
|
|
NM_001356.5(DDX3X):c.765+2T>G
|
rs2147352999
|
|
|
NM_001356.5(DDX3X):c.770dup (p.Asn257fs)
|
rs1555953398
|
|
|
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter)
|
rs2063889019
|
|
|
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser)
|
rs1267519974
|
|
|
NM_001356.5(DDX3X):c.824C>T (p.Thr275Met)
|
rs2063889558
|
|
|
NM_001356.5(DDX3X):c.828_831del (p.Arg276fs)
|
rs1602131859
|
|
|
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
|
|
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
|
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)
|
rs1602131872
|
|
|
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter)
|
rs2147353543
|
|
|
NM_001356.5(DDX3X):c.846C>A (p.Ile282=)
|
rs2063889864
|
|
|
NM_001356.5(DDX3X):c.857C>A (p.Ala286Asp)
|
rs2063889955
|
|
|
NM_001356.5(DDX3X):c.862A>G (p.Lys288Glu)
|
rs1064796820
|
|
|
NM_001356.5(DDX3X):c.864+2T>G
|
|
|
|
NM_001356.5(DDX3X):c.865-2A>G
|
|
|
|
NM_001356.5(DDX3X):c.873C>A (p.Tyr291Ter)
|
rs869320681
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
|
NM_001356.5(DDX3X):c.887G>A (p.Arg296His)
|
|
|
|
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)
|
rs1602132216
|
|
|
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
|
|
|
|
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)
|
rs2147353947
|
|
|
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser)
|
rs875989802
|
|
|
NM_001356.5(DDX3X):c.930dup (p.Arg311fs)
|
rs2147353994
|
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
|
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)
|
rs1555953527
|
|
|
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
|
|
|
|
NM_001356.5(DDX3X):c.976C>T (p.Arg326Cys)
|
rs1555953548
|
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
|
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)
|
rs1602119305
|
|
|
NM_001367721.1(CASK):c.109C>T (p.Gln37Ter)
|
rs1556254569
|
|
|
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
|
|
|
|
NM_001367721.1(CASK):c.1269C>T (p.Asn423=)
|
rs17315800
|
|
|
NM_001367721.1(CASK):c.1315-7A>G
|
rs1555986221
|
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
|
NM_001367721.1(CASK):c.1504-97G>A
|
|
|
|
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
|
|
|
|
NM_001367721.1(CASK):c.1582+1G>A
|
rs2147179060
|
|
|
NM_001367721.1(CASK):c.1583-1G>T
|
|
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
|
NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)
|
rs1569306724
|
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
|
NM_001367721.1(CASK):c.173-1G>A
|
|
|
|
NM_001367721.1(CASK):c.1811del (p.Leu604fs)
|
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
|
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
|
|
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
|
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)
|
rs1602253464
|
|
|
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
|
|
|
|
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
|
|
|
|
NM_001367721.1(CASK):c.2039+1G>A
|
rs2147138207
|
|
|
NM_001367721.1(CASK):c.2039+1del
|
|
|
|
NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser)
|
rs587783358
|
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
|
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
|
|
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
|
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)
|
rs1569295677
|
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
|
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)
|
rs12842195
|
|
|
NM_001367721.1(CASK):c.2156-1G>A
|
rs1569291261
|
|
|
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
|
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
|
NM_001367721.1(CASK):c.2317+1G>A
|
rs1555975458
|
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
|
NM_001367721.1(CASK):c.2318-2A>G
|
rs863224854
|
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
|
NM_001367721.1(CASK):c.2530G>T (p.Val844Phe)
|
rs2147067804
|
|
|
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
|
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)
|
rs1569283243
|
|
|
NM_001367721.1(CASK):c.2604+1G>T
|
rs1555972599
|
|
|
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
|
|
|
|
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
|
|
|
|
NM_001367721.1(CASK):c.278+2_278+3del
|
|
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
|
NM_001367721.1(CASK):c.356+1G>T
|
rs2147736023
|
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
|
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)
|
rs2147495562
|
|
|
NM_001367721.1(CASK):c.533-2A>G
|
rs1569380062
|
|
|
NM_001367721.1(CASK):c.533-5T>G
|
rs2147479605
|
|
|
NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)
|
|
|
|
NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)
|
rs2072812741
|
|
|
NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)
|
|
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
|
NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)
|
rs1556014749
|
|
|
NM_001367721.1(CASK):c.68del (p.Phe23fs)
|
rs1135401762
|
|
|
NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)
|
|
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
|
NM_001367721.1(CASK):c.709-3C>T
|
rs2067016459
|
|
|
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)
|
rs2067016221
|
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
|
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
|
rs1602424869
|
|
|
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)
|
rs1602424843
|
|
|
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)
|
rs794727270
|
|
|
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)
|
rs1602424764
|
|
|
NM_001367721.1(CASK):c.825G>A (p.Trp275Ter)
|
rs2147465256
|
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
|
NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter)
|
rs886128077
|
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
|
NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)
|
|
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
|
NM_001367721.1(CASK):c.915G>A (p.Lys305=)
|
rs387906499
|
|
|
NM_001394073.1(HS6ST2):c.1182G>C (p.Arg394Ser)
|
rs1448659572
|
|
|
NM_001394073.1(HS6ST2):c.1331A>G (p.Asn444Ser)
|
|
|
|
NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe)
|
rs1276990594
|
|
|
NM_001415.4(EIF2S3):c.1003G>A (p.Gly335Ser)
|
rs2147129316
|
|
|
NM_001415.4(EIF2S3):c.1046G>A (p.Arg349Gln)
|
|
|
|
NM_001415.4(EIF2S3):c.1183-15A>G
|
rs1379305185
|
|
|
NM_001415.4(EIF2S3):c.1294C>T (p.Pro432Ser)
|
rs2147131515
|
|
|
NM_001415.4(EIF2S3):c.1394_1397del (p.Ile465fs)
|
rs886040857
|
|
|
NM_001415.4(EIF2S3):c.1403C>G (p.Thr468Arg)
|
rs2147132795
|
|
|
NM_001415.4(EIF2S3):c.324T>A (p.Ser108Arg)
|
rs1057515578
|
|
|
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)
|
rs751468976
|
|
|
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)
|
rs1602041478
|
|
|
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
|
|
|
|
NM_001415.4(EIF2S3):c.65C>T (p.Thr22Ile)
|
|
|
|
NM_001415.4(EIF2S3):c.665T>C (p.Ile222Thr)
|
rs886040855
|
|
|
NM_001415.4(EIF2S3):c.717A>G (p.Ile239Met)
|
|
|
|
NM_001415.4(EIF2S3):c.777T>G (p.Ile259Met)
|
rs886040856
|
|
|
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)
|
rs2147128410
|
|
|
NM_001551.3(IGBP1):c.-57_-55delinsAA
|
rs2147562704
|
|
|
NM_001551.3(IGBP1):c.266C>T (p.Thr89Ile)
|
|
|
|
NM_001551.3(IGBP1):c.37C>G (p.Pro13Ala)
|
rs2085079076
|
|
|
NM_001551.3(IGBP1):c.797C>T (p.Thr266Met)
|
|
|
|
NM_001551.3(IGBP1):c.995A>G (p.Tyr332Cys)
|
rs2085295702
|
|
|
NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn)
|
|
|
|
NM_001830.4(CLCN4):c.1025G>A (p.Gly342Glu)
|
|
|
|
NM_001830.4(CLCN4):c.1051C>G (p.Arg351Gly)
|
rs763535956
|
|
|
NM_001830.4(CLCN4):c.1078C>A (p.Arg360Ser)
|
|
|
|
NM_001830.4(CLCN4):c.1078C>T (p.Arg360Cys)
|
rs1602157389
|
|
|
NM_001830.4(CLCN4):c.1090A>G (p.Arg364Gly)
|
|
|
|
NM_001830.4(CLCN4):c.1106C>T (p.Pro369Leu)
|
rs1924447309
|
|
|
NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)
|
rs2147167432
|
|
|
NM_001830.4(CLCN4):c.1185C>G (p.Ser395Arg)
|
|
|
|
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)
|
rs1924450715
|
|
|
NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)
|
|
|
|
NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)
|
|
|
|
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser)
|
rs1602159841
|
|
|
NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val)
|
|
|
|
NM_001830.4(CLCN4):c.1439G>T (p.Gly480Val)
|
rs2147182640
|
|
|
NM_001830.4(CLCN4):c.1561G>A (p.Ala521Thr)
|
rs1924590136
|
|
|
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)
|
rs1555976973
|
|
|
NM_001830.4(CLCN4):c.1597G>A (p.Val533Met)
|
|
|
|
NM_001830.4(CLCN4):c.1606G>A (p.Val536Met)
|
rs1569231897
|
|
|
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
|
|
|
|
NM_001830.4(CLCN4):c.1630G>A (p.Gly544Arg)
|
rs587777161
|
|
|
NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)
|
|
|
|
NM_001830.4(CLCN4):c.1646T>A (p.Ile549Asn)
|
|
|
|
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)
|
rs1924631837
|
|
|
NM_001830.4(CLCN4):c.1648G>C (p.Val550Leu)
|
|
|
|
NM_001830.4(CLCN4):c.1664C>T (p.Ala555Val)
|
rs879255583
|
|
|
NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)
|
|
|
|
NM_001830.4(CLCN4):c.1849A>G (p.Met617Val)
|
rs2147183851
|
|
|
NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg)
|
|
|
|
NM_001830.4(CLCN4):c.1886C>T (p.Thr629Ile)
|
|
|
|
NM_001830.4(CLCN4):c.1904C>G (p.Pro635Arg)
|
|
|
|
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)
|
|
|
|
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr)
|
rs142375213
|
|
|
NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)
|
|
|
|
NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)
|
|
|
|
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)
|
rs879255584
|
|
|
NM_001830.4(CLCN4):c.2167C>T (p.Arg723Trp)
|
rs1924842665
|
|
|
NM_001830.4(CLCN4):c.2191G>C (p.Gly731Arg)
|
rs1569233549
|
|
|
NM_001830.4(CLCN4):c.2192G>T (p.Gly731Val)
|
|
|
|
NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)
|
rs1569226551
|
|
|
NM_001830.4(CLCN4):c.373del (p.Asp125fs)
|
rs1924061524
|
|
|
NM_001830.4(CLCN4):c.43_55del (p.Asp15fs)
|
rs1923775114
|
|
|
NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu)
|
rs913431577
|
|
|
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
|
|
|
|
NM_001830.4(CLCN4):c.661C>G (p.Leu221Val)
|
rs1569230006
|
|
|
NM_001830.4(CLCN4):c.677C>T (p.Pro226Leu)
|
|
|
|
NM_001830.4(CLCN4):c.740dup (p.Asn248fs)
|
rs2147178526
|
|
|
NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)
|
|
|
|
NM_001830.4(CLCN4):c.826C>T (p.Leu276Phe)
|
|
|
|
NM_001830.4(CLCN4):c.832del (p.Ser278fs)
|
rs1924399093
|
|
|
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
|
|
|
|
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
|
|
|
|
NM_001830.4(CLCN4):c.848G>A (p.Ser283Asn)
|
|
|
|
NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter)
|
rs2147179499
|
|
|
NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)
|
|
|
|
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
|
|
|
|
NM_001830.4(CLCN4):c.925_928del (p.Asn309fs)
|
|
|
|
NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser)
|
rs2147179530
|
|
|
NM_001830.4(CLCN4):c.928C>T (p.Pro310Ser)
|
|
|
|
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)
|
rs1374813094
|
|
|
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)
|
rs1064796023
|
|
|
NM_001830.4(CLCN4):c.956T>C (p.Phe319Ser)
|
|
|
|
NM_002063.4(GLRA2):c.1048C>T (p.Arg350Cys)
|
|
|
|
NM_002063.4(GLRA2):c.1049G>T (p.Arg350Leu)
|
rs761094724
|
|
|
NM_002063.4(GLRA2):c.458G>A (p.Arg153Gln)
|
rs2147065620
|
|
|
NM_002063.4(GLRA2):c.659A>C (p.Gln220Pro)
|
|
|
|
NM_002063.4(GLRA2):c.777C>G (p.Ile259Met)
|
rs2147096455
|
|
|
NM_002063.4(GLRA2):c.887C>T (p.Thr296Met)
|
rs1601761445
|
|
|
NM_002139.4(RBMX):c.-1C>A
|
rs2011584
|
|
|
NM_002139.4(RBMX):c.101T>C (p.Ile34Thr)
|
rs2148714108
|
|
|
NM_002139.4(RBMX):c.1037_1059del (p.Glu346fs)
|
|
|
|
NM_002139.4(RBMX):c.217-2dup
|
|
|
|
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
|
|
|
|
NM_002139.4(RBMX):c.388G>T (p.Asp130Tyr)
|
|
|
|
NM_002139.4(RBMX):c.478CCT[2] (p.Pro162del)
|
|
|
|
NM_002139.4(RBMX):c.591A>G (p.Glu197=)
|
rs1261521581
|
|
|
NM_002547.2(OPHN1):c.313_326del
|
|
|
|
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
|
|
|
|
NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
|
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)
|
rs2078892867
|
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
|
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys)
|
rs1064795031
|
|
|
NM_002547.3(OPHN1):c.1228A>G (p.Thr410Ala)
|
|
|
|
NM_002547.3(OPHN1):c.1343C>T (p.Ser448Phe)
|
rs2077140176
|
|
|
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
|
rs1602169116
|
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
|
NM_002547.3(OPHN1):c.1489C>T (p.Arg497Ter)
|
rs1569215382
|
|
|
NM_002547.3(OPHN1):c.1526+1G>A
|
rs2147429591
|
|
|
NM_002547.3(OPHN1):c.155-2A>C
|
rs1064793755
|
|
|
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
|
|
|
|
NM_002547.3(OPHN1):c.1579del (p.Ile527fs)
|
rs1569211016
|
|
|
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)
|
rs2147404496
|
|
|
NM_002547.3(OPHN1):c.170T>A (p.Val57Asp)
|
rs2147627388
|
|
|
NM_002547.3(OPHN1):c.1714G>C (p.Ala572Pro)
|
|
|
|
NM_002547.3(OPHN1):c.1733C>T (p.Pro578Leu)
|
|
|
|
NM_002547.3(OPHN1):c.1781G>A (p.Arg594His)
|
|
|
|
NM_002547.3(OPHN1):c.184C>T (p.Gln62Ter)
|
rs137854493
|
|
|
NM_002547.3(OPHN1):c.1889C>A (p.Pro630His)
|
rs866834118
|
|
|
NM_002547.3(OPHN1):c.1913T>C (p.Leu638Pro)
|
|
|
|
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro)
|
rs2078108310
|
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
|
NM_002547.3(OPHN1):c.2129C>T (p.Ala710Val)
|
rs2076902830
|
|
|
NM_002547.3(OPHN1):c.2150A>G (p.His717Arg)
|
|
|
|
NM_002547.3(OPHN1):c.2159-1G>C
|
rs2147349266
|
|
|
NM_002547.3(OPHN1):c.2159-4C>T
|
rs587784233
|
|
|
NM_002547.3(OPHN1):c.230C>T (p.Thr77Ile)
|
|
|
|
NM_002547.3(OPHN1):c.295A>T (p.Asn99Tyr)
|
|
|
|
NM_002547.3(OPHN1):c.328G>T (p.Asp110Tyr)
|
|
|
|
NM_002547.3(OPHN1):c.384+1G>A
|
rs2147594453
|
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
|
NM_002547.3(OPHN1):c.597+1del
|
|
|
|
NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
|
NM_002547.3(OPHN1):c.644_645del (p.Val215fs)
|
rs1569244467
|
|
|
NM_002547.3(OPHN1):c.702+4A>G
|
rs2147481894
|
|
|
NM_002547.3(OPHN1):c.702+4A>T
|
rs2147481894
|
|
|
NM_002547.3(OPHN1):c.745_752dup (p.Lys251fs)
|
rs1569243931
|
|
|
NM_002547.3(OPHN1):c.812A>G (p.Tyr271Cys)
|
rs2077578419
|
|
|
NM_002547.3(OPHN1):c.833G>C (p.Trp278Ser)
|
|
|
|
NM_002547.3(OPHN1):c.841G>A (p.Gly281Arg)
|
|
|
|
NM_002547.3(OPHN1):c.869A>G (p.Gln290Arg)
|
|
|
|
NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys)
|
rs2053450670
|
|
|
NM_003336.4(UBE2A):c.242-3_244del
|
rs2053456972
|
|
|
NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys)
|
rs2053457206
|
|
|
NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala)
|
rs2053457309
|
|
|
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)
|
rs2053457413
|
|
|
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)
|
rs1603308066
|
|
|
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln)
|
rs387906728
|
|
|
NM_003336.4(UBE2A):c.330+1G>A
|
rs2053457643
|
|
|
NM_003336.4(UBE2A):c.330+1del
|
|
|
|
NM_003336.4(UBE2A):c.352C>A (p.Pro118Thr)
|
|
|
|
NM_003336.4(UBE2A):c.373del (p.Gln125fs)
|
rs1556244406
|
|
|
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter)
|
rs104894952
|
|
|
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
|
|
|
|
NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp)
|
rs767224681
|
|
|
NM_003336.4(UBE2A):c.421_422del (p.Val141fs)
|
rs2147382084
|
|
|
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)
|
|
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
|
NM_003491.4(NAA10):c.*39A>G
|
rs1603289774
|
|
|
NM_003491.4(NAA10):c.*40A>G
|
rs1342269961
|
|
|
NM_003491.4(NAA10):c.*43A>G
|
rs1603289772
|
|
|
NM_003491.4(NAA10):c.109T>C (p.Ser37Pro)
|
rs387906701
|
|
|
NM_003491.4(NAA10):c.112T>G (p.Trp38Gly)
|
rs2148536647
|
|
|
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr)
|
rs1603290816
|
|
|
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)
|
rs1557107942
|
|
|
NM_003491.4(NAA10):c.128A>C (p.Tyr43Ser)
|
rs863225427
|
|
|
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)
|
|
|
|
NM_003491.4(NAA10):c.16G>C (p.Ala6Pro)
|
rs2148537138
|
|
|
NM_003491.4(NAA10):c.190C>T (p.Pro64Ser)
|
rs2148535394
|
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
|
NM_003491.4(NAA10):c.257T>G (p.Leu86Arg)
|
rs2065171820
|
|
|
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser)
|
rs1557107543
|
|
|
NM_003491.4(NAA10):c.303C>A (p.Asn101Lys)
|
rs781871487
|
|
|
NM_003491.4(NAA10):c.303C>G (p.Asn101Lys)
|
rs781871487
|
|
|
NM_003491.4(NAA10):c.30C>G (p.Asp10Glu)
|
rs2148536720
|
|
|
NM_003491.4(NAA10):c.319G>T (p.Val107Phe)
|
rs587780562
|
|
|
NM_003491.4(NAA10):c.332T>G (p.Val111Gly)
|
rs1557107528
|
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
|
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)
|
rs2065169655
|
|
|
NM_003491.4(NAA10):c.361C>G (p.Leu121Val)
|
rs1557107462
|
|
|
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)
|
rs1603290291
|
|
|
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
|
|
|
|
NM_003491.4(NAA10):c.384T>A (p.Phe128Leu)
|
|
|
|
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu)
|
rs878853263
|
|
|
NM_003491.4(NAA10):c.386A>C (p.Gln129Pro)
|
rs2065169457
|
|
|
NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr)
|
rs2148534337
|
|
|
NM_003491.4(NAA10):c.430G>A (p.Ala144Thr)
|
rs2065162376
|
|
|
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)
|
rs2065162324
|
|
|
NM_003491.4(NAA10):c.455_458del (p.Thr152fs)
|
rs2148534324
|
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
|
NM_003491.4(NAA10):c.472-2A>C
|
rs2065158556
|
|
|
NM_003491.4(NAA10):c.47A>C (p.His16Pro)
|
rs2065185202
|
|
|
NM_003491.4(NAA10):c.494_495del (p.Lys165fs)
|
rs1569546255
|
|
|
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)
|
rs2147321510
|
|
|
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)
|
rs2147360370
|
|
|
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_003688.3:c.116_117delCA
|
|
|
|
NM_004187.5(KDM5C):c.*129C>T
|
rs1602156447
|
|
|
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
|
|
|
|
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro)
|
rs199422235
|
|
|
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
|
|
|
|
NM_004187.5(KDM5C):c.1243-3C>T
|
|
|
|
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
|
|
|
|
NM_004187.5(KDM5C):c.12dup (p.Ser5fs)
|
rs2146978931
|
|
|
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
|
|
|
|
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg)
|
rs199422237
|
|
|
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser)
|
rs2073559814
|
|
|
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs)
|
rs2146919819
|
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
|
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
|
|
|
|
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs)
|
rs2146915836
|
|
|
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe)
|
rs2146915737
|
|
|
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys)
|
rs886037836
|
|
|
NM_004187.5(KDM5C):c.1583+5G>T
|
rs2073531540
|
|
|
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala)
|
rs2146914851
|
|
|
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys)
|
rs2146914735
|
|
|
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)
|
rs587780372
|
|
|
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
|
|
|
|
NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala)
|
rs2146914266
|
|
|
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe)
|
rs1602183890
|
|
|
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
|
|
|
|
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
|
|
|
|
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val)
|
rs2073151214
|
|
|
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe)
|
rs2146868023
|
|
|
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)
|
rs2146867887
|
|
|
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)
|
rs1602183619
|
|
|
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
|
|
|
|
NM_004187.5(KDM5C):c.202dup (p.Arg68fs)
|
rs782600511
|
|
|
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter)
|
rs199422236
|
|
|
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)
|
rs2146961698
|
|
|
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His)
|
rs1569264240
|
|
|
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter)
|
rs2146852767
|
|
|
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter)
|
rs281860639
|
|
|
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe)
|
rs199422234
|
|
|
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
|
|
|
|
NM_004187.5(KDM5C):c.2243+1G>T
|
rs2073058023
|
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
|
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr)
|
rs199422239
|
|
|
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
|
|
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
|
NM_004187.5(KDM5C):c.2517-15T>A
|
|
|
|
NM_004187.5(KDM5C):c.2517_2622del
|
rs2146844343
|
|
|
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter)
|
rs1602231587
|
|
|
NM_004187.5(KDM5C):c.2622+2dup
|
rs1057519393
|
|
|
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp)
|
rs2146840102
|
|
|
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr)
|
rs2146839898
|
|
|
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val)
|
rs2073805082
|
|
|
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
|
|
|
|
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln)
|
rs1556837428
|
|
|
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
|
|
|
|
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
|
|
|
|
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter)
|
rs2146837810
|
|
|
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
|
|
|
|
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
|
|
|
|
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp)
|
rs2146833113
|
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
|
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
|
|
|
|
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
|
|
|
|
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs)
|
rs1934751829
|
|
|
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)
|
rs1934728804
|
|
|
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter)
|
rs1934722562
|
|
|
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys)
|
rs1602162404
|
|
|
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
|
|
|
|
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)
|
rs1131692227
|
|
|
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala)
|
rs2146951019
|
|
|
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
|
|
|
|
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
|
|
|
|
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu)
|
rs2146821316
|
|
|
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
|
|
|
|
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter)
|
rs1934657828
|
|
|
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
|
|
|
|
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
|
|
|
|
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del)
|
rs2146819410
|
|
|
NM_004187.5(KDM5C):c.4118-2A>G
|
rs2146815883
|
|
|
NM_004187.5(KDM5C):c.4118-9A>G
|
|
|
|
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
|
|
|
|
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
|
|
|
|
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys)
|
rs1556852793
|
|
|
NM_004187.5(KDM5C):c.589dup (p.Leu197fs)
|
rs1602228596
|
|
|
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
|
|
|
|
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter)
|
rs1556852362
|
|
|
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs)
|
rs1060499661
|
|
|
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
|
|
|
|
NM_004187.5(KDM5C):c.807del (p.Thr270fs)
|
rs1569278313
|
|
|
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)
|
rs2146978491
|
|
|
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu)
|
rs782081983
|
|
|
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
|
|
|
|
NM_004187.5(KDM5C):c.94G>T (p.Ala32Ser)
|
|
|
|
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)
|
rs2146934865
|
|
|
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)
|
rs2146934832
|
|
|
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.1000-2A>G
|
rs2148664125
|
|
|
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.1022del (p.His341fs)
|
rs2148664069
|
|
|
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.1148G>C (p.Arg383Pro)
|
|
|
|
NM_004586.3(RPS6KA3):c.1151G>T (p.Gly384Val)
|
rs2067670297
|
|
|
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs)
|
rs2148662359
|
|
|
NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala)
|
rs2148784759
|
|
|
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.1308C>A (p.Cys436Ter)
|
rs1160828151
|
|
|
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.1376A>T (p.Asp459Val)
|
rs2148653302
|
|
|
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.1428_1430del (p.Ile477del)
|
rs1603420690
|
|
|
NM_004586.3(RPS6KA3):c.1443+6T>C
|
rs2067519822
|
|
|
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
|
|
|
|
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
|
|
|
|
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)
|
rs2148650076
|
|
|
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
|
|
|
|
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
|
rs2067475470
|
|
|
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.1762G>C (p.Glu588Gln)
|
rs1555927532
|
|
|
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.1823T>G (p.Leu608Arg)
|
rs2067342745
|
|
|
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.1877C>T (p.Pro626Leu)
|
rs1555926370
|
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
|
NM_004586.3(RPS6KA3):c.1900G>T (p.Gly634Cys)
|
rs1555926346
|
|
|
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.1959+2dup
|
rs1057518853
|
|
|
NM_004586.3(RPS6KA3):c.1960-16A>T
|
|
|
|
NM_004586.3(RPS6KA3):c.1960-6_1971del
|
|
|
|
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)
|
rs1555924704
|
|
|
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.2065C>T (p.Gln689Ter)
|
rs122454128
|
|
|
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.2101-2A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.2118A>G (p.Thr706=)
|
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
|
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
|
|
|
|
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs)
|
rs2148622591
|
|
|
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs)
|
rs1603417213
|
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
|
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs)
|
rs1603417191
|
|
|
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn)
|
|
|
|
NM_004586.3(RPS6KA3):c.2205C>T (p.Ile735=)
|
|
|
|
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val)
|
rs122454124
|
|
|
NM_004586.3(RPS6KA3):c.225G>T (p.Gly75=)
|
rs1555950495
|
|
|
NM_004586.3(RPS6KA3):c.243+19C>T
|
|
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
|
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.244G>T (p.Val82Phe)
|
rs122454126
|
|
|
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.326-11A>G
|
rs1555943503
|
|
|
NM_004586.3(RPS6KA3):c.326-1G>C
|
rs587776755
|
|
|
NM_004586.3(RPS6KA3):c.326-20A>C
|
|
|
|
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs)
|
rs1555943492
|
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
|
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter)
|
rs1555943479
|
|
|
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)
|
rs122454127
|
|
|
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.406+1G>T
|
|
|
|
NM_004586.3(RPS6KA3):c.407-1G>T
|
|
|
|
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
|
|
|
|
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter)
|
rs2148701884
|
|
|
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)
|
rs2148701829
|
|
|
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs)
|
rs1603426295
|
|
|
NM_004586.3(RPS6KA3):c.486+20T>G
|
|
|
|
NM_004586.3(RPS6KA3):c.486+3A>G
|
rs1603426293
|
|
|
NM_004586.3(RPS6KA3):c.51C>T (p.Ser17=)
|
|
|
|
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys)
|
rs122454130
|
|
|
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.629C>T (p.Thr210Ile)
|
rs1325953089
|
|
|
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.632-1G>C
|
rs398124177
|
|
|
NM_004586.3(RPS6KA3):c.632-2A>C
|
rs2148686736
|
|
|
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
|
|
|
|
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)
|
rs1555939456
|
|
|
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
|
|
|
|
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala)
|
rs122454125
|
|
|
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.748G>A (p.Asp250Asn)
|
rs1603425338
|
|
|
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg)
|
rs1569215936
|
|
|
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp)
|
rs1555939335
|
|
|
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.774+1G>C
|
rs1555939331
|
|
|
NM_004586.3(RPS6KA3):c.775-17A>G
|
|
|
|
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser)
|
rs122454131
|
|
|
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.889_890del (p.Leu298fs)
|
|
|
|
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del)
|
rs1555933769
|
|
|
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter)
|
rs1603422409
|
|
|
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
|
|
|
|
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter)
|
rs1603422403
|
|
|
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_004595.5(SMS):c.1061+2T>C
|
|
|
|
NM_004595.5(SMS):c.113C>T (p.Ser38Leu)
|
|
|
|
NM_004595.5(SMS):c.13C>G (p.Arg5Gly)
|
rs1921698887
|
|
|
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)
|
rs2147508108
|
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
|
NM_004595.5(SMS):c.174T>A (p.Phe58Leu)
|
rs397515549
|
|
|
NM_004595.5(SMS):c.200G>A (p.Gly67Glu)
|
rs397515550
|
|
|
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
|
|
|
|
NM_004595.5(SMS):c.289A>G (p.Met97Val)
|
|
|
|
NM_004595.5(SMS):c.328C>G (p.Arg110Gly)
|
rs1924243873
|
|
|
NM_004595.5(SMS):c.329+5G>A
|
rs397515381
|
|
|
NM_004595.5(SMS):c.329G>A (p.Arg110Gln)
|
rs2147513193
|
|
|
NM_004595.5(SMS):c.335C>A (p.Pro112Gln)
|
|
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
|
NM_004595.5(SMS):c.395T>G (p.Val132Gly)
|
rs267607076
|
|
|
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)
|
rs1924586809
|
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
|
NM_004595.5(SMS):c.587T>C (p.Ile196Thr)
|
rs1924648986
|
|
|
NM_004595.5(SMS):c.608G>A (p.Gly203Asp)
|
rs1924650670
|
|
|
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
|
|
|
|
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
|
|
|
|
NM_004595.5(SMS):c.865+2T>C
|
rs2146953457
|
|
|
NM_004595.5(SMS):c.908_911del (p.Met303fs)
|
rs1602220706
|
|
|
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)
|
rs397515553
|
|
|
NM_004606.5(TAF1):c.1188TCT[1] (p.Leu398del)
|
rs1602468194
|
|
|
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)
|
rs2033670961
|
|
|
NM_004606.5(TAF1):c.1291C>T (p.Arg431Cys)
|
|
|
|
NM_004606.5(TAF1):c.1436G>A (p.Gly479Glu)
|
|
|
|
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)
|
rs2148276174
|
|
|
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly)
|
rs1602481623
|
|
|
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
|
|
|
|
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)
|
rs864321630
|
|
|
NM_004606.5(TAF1):c.1765A>G (p.Ile589Val)
|
rs1602485648
|
|
|
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp)
|
rs1602489684
|
|
|
NM_004606.5(TAF1):c.1A>T (p.Met1Leu)
|
rs2148106783
|
|
|
NM_004606.5(TAF1):c.2119C>T (p.Arg707Trp)
|
rs2148297957
|
|
|
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
|
rs1602490113
|
|
|
NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro)
|
rs1602490113
|
|
|
NM_004606.5(TAF1):c.2305A>G (p.Arg769Gly)
|
rs1602500103
|
|
|
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)
|
rs864321628
|
|
|
NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)
|
|
|
|
NM_004606.5(TAF1):c.2475G>C (p.Arg825Ser)
|
rs2148336686
|
|
|
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr)
|
rs2148336854
|
|
|
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)
|
rs2034364118
|
|
|
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
|
|
|
|
NM_004606.5(TAF1):c.2557T>G (p.Phe853Val)
|
rs1602504701
|
|
|
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)
|
rs1602506017
|
|
|
NM_004606.5(TAF1):c.2700+5A>G
|
rs2034394782
|
|
|
NM_004606.5(TAF1):c.2773G>A (p.Asp925Asn)
|
rs1555971253
|
|
|
NM_004606.5(TAF1):c.2806A>G (p.Thr936Ala)
|
rs1014764751
|
|
|
NM_004606.5(TAF1):c.2866G>C (p.Asp956His)
|
rs864321631
|
|
|
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)
|
rs1057518019
|
|
|
NM_004606.5(TAF1):c.290C>T (p.Ala97Val)
|
rs2032706255
|
|
|
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)
|
rs1602520317
|
|
|
NM_004606.5(TAF1):c.3407-1G>A
|
|
|
|
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)
|
rs1569301036
|
|
|
NM_004606.5(TAF1):c.352+7C>T
|
rs2032710993
|
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
|
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)
|
rs864321629
|
|
|
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)
|
rs1602538353
|
|
|
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)
|
rs864321627
|
|
|
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)
|
rs1131691982
|
|
|
NM_004606.5(TAF1):c.3992T>A (p.Ile1331Asn)
|
rs1602549992
|
|
|
NM_004606.5(TAF1):c.4108-5C>T
|
rs2148485195
|
|
|
NM_004606.5(TAF1):c.421C>G (p.Pro141Ala)
|
rs1602451776
|
|
|
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)
|
rs1555980523
|
|
|
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)
|
rs2148488146
|
|
|
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)
|
rs2148488251
|
|
|
NM_004606.5(TAF1):c.4315C>G (p.Leu1439Val)
|
|
|
|
NM_004606.5(TAF1):c.4382A>G (p.Asn1461Ser)
|
rs1602572645
|
|
|
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile)
|
rs1602572645
|
|
|
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)
|
rs1064793874
|
|
|
NM_004606.5(TAF1):c.4452+3A>G
|
rs2036334224
|
|
|
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)
|
rs1602624914
|
|
|
NM_004606.5(TAF1):c.448A>G (p.Lys150Glu)
|
|
|
|
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)
|
rs1602624950
|
|
|
NM_004606.5(TAF1):c.4576-9A>G
|
|
|
|
NM_004606.5(TAF1):c.4666A>G (p.Lys1556Glu)
|
rs1602627327
|
|
|
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)
|
rs2148612232
|
|
|
NM_004606.5(TAF1):c.5036G>A (p.Ser1679Asn)
|
|
|
|
NM_004606.5(TAF1):c.5128G>T (p.Ala1710Ser)
|
|
|
|
NM_004606.5(TAF1):c.5304G>C (p.Glu1768Asp)
|
rs1602753978
|
|
|
NM_004606.5(TAF1):c.5338_5339insGTAATCGATAGCAACATCAG (p.Met1780delinsSerAsnArgTer)
|
rs2038515067
|
|
|
NM_004606.5(TAF1):c.553A>G (p.Ser185Gly)
|
rs1602459601
|
|
|
NM_004606.5(TAF1):c.745G>A (p.Gly249Arg)
|
|
|
|
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)
|
rs1602463196
|
|
|
NM_004992.3:c.(?_-226)_(*1_?)dup
|
|
|
|
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.1102-6T>C
|
|
|
|
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+3A>G
|
rs2147782173
|
|
|
NM_005120.3(MED12):c.1248+7C>G
|
rs2147782206
|
|
|
NM_005120.3(MED12):c.1249-16C>T
|
|
|
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
|
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.1439T>C (p.Leu480Pro)
|
rs2092293046
|
|
|
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.1546C>T (p.Arg516Cys)
|
rs1569481124
|
|
|
NM_005120.3(MED12):c.1547G>A (p.Arg516His)
|
rs1556334969
|
|
|
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.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
|
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.2023C>T (p.Leu675Phe)
|
|
|
|
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.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
|
NM_005120.3(MED12):c.2235A>G (p.Ser745=)
|
|
|
|
NM_005120.3(MED12):c.2247G>A (p.Glu749=)
|
|
|
|
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)
|
rs867655376
|
|
|
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.2545T>C (p.Ser849Pro)
|
rs1135401775
|
|
|
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
|
|
|
|
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.2663G>C (p.Gly888Ala)
|
rs2092303518
|
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
|
NM_005120.3(MED12):c.2667C>T (p.Leu889=)
|
|
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
|
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.2692A>G (p.Asn898Asp)
|
rs2147797665
|
|
|
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.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
|
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile)
|
|
|
|
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
|
|
|
|
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)
|
rs2147798220
|
|
|
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.2861T>G (p.Val954Gly)
|
rs2147799283
|
|
|
NM_005120.3(MED12):c.2871T>C (p.His957=)
|
rs1602298730
|
|
|
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)
|
rs397515554
|
|
|
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.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
|
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.322C>T (p.Arg108Ter)
|
rs2147773440
|
|
|
NM_005120.3(MED12):c.3246C>G (p.Thr1082=)
|
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
|
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)
|
rs2147802318
|
|
|
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.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
|
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
|
|
|
|
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
|
|
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
|
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.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
|
NM_005120.3(MED12):c.3498G>A (p.Glu1166=)
|
rs1556336751
|
|
|
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)
|
rs1602299778
|
|
|
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.3613C>T (p.Arg1205Cys)
|
rs2092311027
|
|
|
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.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
|
NM_005120.3(MED12):c.3641G>A (p.Arg1214His)
|
rs2092311084
|
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
|
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)
|
rs2147805960
|
|
|
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.3742G>C (p.Glu1248Gln)
|
rs2092312145
|
|
|
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.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
|
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val)
|
|
|
|
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)
|
rs2147808490
|
|
|
NM_005120.3(MED12):c.3934T>C (p.Leu1312=)
|
rs1406760316
|
|
|
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)
|
rs2147808505
|
|
|
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.397-12A>G
|
rs192515277
|
|
|
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.4069C>T (p.Arg1357Cys)
|
|
|
|
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.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
|
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
|
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.4416-77CTCTT[14]
|
rs56658066
|
|
|
NM_005120.3(MED12):c.4416-7T>A
|
|
|
|
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
|
|
|
|
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
|
|
|
|
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.4492G>A (p.Gly1498Arg)
|
rs2147817009
|
|
|
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.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
|
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.4831C>T (p.Arg1611Cys)
|
rs727503868
|
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
|
NM_005120.3(MED12):c.4863+1G>A
|
|
|
|
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.4903_4906delinsCCAGCA (p.Val1635fs)
|
rs2147823333
|
|
|
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.5017AAG[1] (p.Lys1674del)
|
|
|
|
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.5111G>A (p.Trp1704Ter)
|
rs2147826070
|
|
|
NM_005120.3(MED12):c.5142G>A (p.Val1714=)
|
rs2147826171
|
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
|
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
|
|
|
|
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.5185C>A (p.His1729Asn)
|
rs387907362
|
|
|
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.5310C>A (p.Asp1770Glu)
|
|
|
|
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.5578C>T (p.Pro1860Ser)
|
rs2092334822
|
|
|
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.5622C>A (p.Tyr1874Ter)
|
rs2147829167
|
|
|
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.5898dup (p.Ser1967fs)
|
rs879255527
|
|
|
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=)
|
rs2092336448
|
|
|
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)
|
rs2147830849
|
|
|
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.6017A>G (p.Tyr2006Cys)
|
|
|
|
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.6045G>A (p.Arg2015=)
|
|
|
|
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.6169C>T (p.Gln2057Ter)
|
rs2147839335
|
|
|
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.6211del (p.Gln2071fs)
|
|
|
|
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)
|
rs2147839986
|
|
|
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[3] (p.Gln2084_Gln2086del)
|
rs786200971
|
|
|
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.6268C>T (p.Gln2090Ter)
|
rs2147841562
|
|
|
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.6280C>T (p.Gln2094Ter)
|
rs2147841653
|
|
|
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.628G>C (p.Ala210Pro)
|
rs1379201163
|
|
|
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.6328C>G (p.Gln2110Glu)
|
|
|
|
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.6407A>G (p.Gln2136Arg)
|
rs2092347481
|
|
|
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.6439C>A (p.Gln2147Lys)
|
rs863223699
|
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
|
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)
|
rs2147844978
|
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
|
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.728T>C (p.Met243Thr)
|
|
|
|
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.823C>G (p.Leu275Val)
|
rs2147778826
|
|
|
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.886C>T (p.Arg296Trp)
|
|
|
|
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.949T>C (p.Ser317Pro)
|
|
|
|
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_005634.3(SOX3):c.1265G>A (p.Arg422His)
|
|
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
|
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)
|
rs112180170
|
|
|
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
|
|
|
|
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr)
|
rs1556518231
|
|
|
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)
|
rs776775669
|
|
|
NM_005634.3(SOX3):c.712_744dup (p.Ala248_Ser249insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
|
|
|
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)
|
rs398124211
|
|
|
NM_005634.3(SOX3):c.791T>G (p.Val264Gly)
|
rs1927323032
|
|
|
NM_005765.3(ATP6AP2):c.1008T>C (p.Asp336=)
|
|
|
|
NM_005765.3(ATP6AP2):c.1015A>G (p.Ile339Val)
|
rs1927055441
|
|
|
NM_005765.3(ATP6AP2):c.127C>T (p.Pro43Ser)
|
|
|
|
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
|
|
|
|
NM_005765.3(ATP6AP2):c.168+15T>G
|
|
|
|
NM_005765.3(ATP6AP2):c.168+3A>G
|
|
|
|
NM_005765.3(ATP6AP2):c.168+6T>A
|
rs1057519331
|
|
|
NM_005765.3(ATP6AP2):c.168+7A>G
|
rs2146538326
|
|
|
NM_005765.3(ATP6AP2):c.169G>A (p.Asp57Asn)
|
|
|
|
NM_005765.3(ATP6AP2):c.176C>G (p.Ser59Cys)
|
|
|
|
NM_005765.3(ATP6AP2):c.192A>T (p.Ala64=)
|
|
|
|
NM_005765.3(ATP6AP2):c.209A>T (p.His70Leu)
|
rs2146539439
|
|
|
NM_005765.3(ATP6AP2):c.225C>T (p.Thr75=)
|
|
|
|
NM_005765.3(ATP6AP2):c.232G>T (p.Val78Leu)
|
rs796052283
|
|
|
NM_005765.3(ATP6AP2):c.252C>T (p.Asn84=)
|
|
|
|
NM_005765.3(ATP6AP2):c.259G>C (p.Ala87Pro)
|
rs1926620037
|
|
|
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
|
|
|
NM_005765.3(ATP6AP2):c.285G>C (p.Ser95=)
|
rs34217273
|
|
|
NM_005765.3(ATP6AP2):c.289C>T (p.Pro97Ser)
|
rs1926621605
|
|
|
NM_005765.3(ATP6AP2):c.301-11_301-10del
|
rs1926795050
|
|
|
NM_005765.3(ATP6AP2):c.303A>G (p.Ala101=)
|
rs770593270
|
|
|
NM_005765.3(ATP6AP2):c.315T>A (p.Ser105Arg)
|
|
|
|
NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=)
|
rs121918521
|
|
|
NM_005765.3(ATP6AP2):c.323G>A (p.Ser108Asn)
|
|
|
|
NM_005765.3(ATP6AP2):c.328G>A (p.Ala110Thr)
|
|
|
|
NM_005765.3(ATP6AP2):c.33G>A (p.Val11=)
|
rs1926309103
|
|
|
NM_005765.3(ATP6AP2):c.340C>T (p.His114Tyr)
|
|
|
|
NM_005765.3(ATP6AP2):c.345C>T (p.Ser115=)
|
rs397518480
|
|
|
NM_005765.3(ATP6AP2):c.351T>G (p.Phe117Leu)
|
|
|
|
NM_005765.3(ATP6AP2):c.35C>T (p.Ala12Val)
|
|
|
|
NM_005765.3(ATP6AP2):c.365C>A (p.Pro122His)
|
|
|
|
NM_005765.3(ATP6AP2):c.365C>T (p.Pro122Leu)
|
|
|
|
NM_005765.3(ATP6AP2):c.37+12G>A
|
rs2146534517
|
|
|
NM_005765.3(ATP6AP2):c.37+15G>A
|
|
|
|
NM_005765.3(ATP6AP2):c.37+17C>G
|
|
|
|
NM_005765.3(ATP6AP2):c.37+18G>A
|
|
|
|
NM_005765.3(ATP6AP2):c.37+5G>A
|
|
|
|
NM_005765.3(ATP6AP2):c.375G>T (p.Leu125Phe)
|
|
|
|
NM_005765.3(ATP6AP2):c.397-16T>G
|
|
|
|
NM_005765.3(ATP6AP2):c.397-9T>A
|
|
|
|
NM_005765.3(ATP6AP2):c.408G>A (p.Met136Ile)
|
rs1555977799
|
|
|
NM_005765.3(ATP6AP2):c.411A>G (p.Val137=)
|
rs2146542663
|
|
|
NM_005765.3(ATP6AP2):c.423C>T (p.Asn141=)
|
rs1555977800
|
|
|
NM_005765.3(ATP6AP2):c.428T>C (p.Val143Ala)
|
rs1926802970
|
|
|
NM_005765.3(ATP6AP2):c.432T>C (p.Phe144=)
|
rs1926803092
|
|
|
NM_005765.3(ATP6AP2):c.448A>T (p.Thr150Ser)
|
rs2146542684
|
|
|
NM_005765.3(ATP6AP2):c.47G>A (p.Gly16Glu)
|
rs866274169
|
|
|
NM_005765.3(ATP6AP2):c.500C>T (p.Ser167Leu)
|
|
|
|
NM_005765.3(ATP6AP2):c.504C>T (p.Leu168=)
|
rs2146542730
|
|
|
NM_005765.3(ATP6AP2):c.50A>G (p.Asn17Ser)
|
rs1926552105
|
|
|
NM_005765.3(ATP6AP2):c.51C>T (p.Asn17=)
|
rs371701957
|
|
|
NM_005765.3(ATP6AP2):c.529A>G (p.Asn177Asp)
|
|
|
|
NM_005765.3(ATP6AP2):c.534+10G>A
|
|
|
|
NM_005765.3(ATP6AP2):c.534+10G>C
|
rs758140053
|
|
|
NM_005765.3(ATP6AP2):c.536T>C (p.Val179Ala)
|
rs773037776
|
|
|
NM_005765.3(ATP6AP2):c.546C>T (p.Leu182=)
|
|
|
|
NM_005765.3(ATP6AP2):c.589-19G>A
|
|
|
|
NM_005765.3(ATP6AP2):c.589-6C>T
|
|
|
|
NM_005765.3(ATP6AP2):c.594T>G (p.Ser198=)
|
|
|
|
NM_005765.3(ATP6AP2):c.609A>G (p.Leu203=)
|
rs2146543619
|
|
|
NM_005765.3(ATP6AP2):c.60T>C (p.Ser20=)
|
|
|
|
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)
|
rs2146543631
|
|
|
NM_005765.3(ATP6AP2):c.690T>C (p.Ser230=)
|
rs1926856559
|
|
|
NM_005765.3(ATP6AP2):c.6T>A (p.Ala2=)
|
|
|
|
NM_005765.3(ATP6AP2):c.724G>A (p.Asp242Asn)
|
rs2146543666
|
|
|
NM_005765.3(ATP6AP2):c.727G>A (p.Ala243Thr)
|
|
|
|
NM_005765.3(ATP6AP2):c.735A>G (p.Gln245=)
|
|
|
|
NM_005765.3(ATP6AP2):c.738+10A>T
|
|
|
|
NM_005765.3(ATP6AP2):c.738+15G>A
|
rs777239225
|
|
|
NM_005765.3(ATP6AP2):c.738+8T>A
|
rs2146543689
|
|
|
NM_005765.3(ATP6AP2):c.739-5_739-4del
|
|
|
|
NM_005765.3(ATP6AP2):c.752T>C (p.Met251Thr)
|
rs2146544175
|
|
|
NM_005765.3(ATP6AP2):c.766G>T (p.Gly256Cys)
|
|
|
|
NM_005765.3(ATP6AP2):c.775G>A (p.Ala259Thr)
|
|
|
|
NM_005765.3(ATP6AP2):c.777A>G (p.Ala259=)
|
|
|
|
NM_005765.3(ATP6AP2):c.811A>T (p.Thr271Ser)
|
|
|
|
NM_005765.3(ATP6AP2):c.834G>A (p.Arg278=)
|
rs2146544212
|
|
|
NM_005765.3(ATP6AP2):c.840C>G (p.Ile280Met)
|
rs1555978066
|
|
|
NM_005765.3(ATP6AP2):c.857C>T (p.Ala286Val)
|
|
|
|
NM_005765.3(ATP6AP2):c.858+4A>G
|
|
|
|
NM_005765.3(ATP6AP2):c.858G>A (p.Ala286=)
|
rs1555978069
|
|
|
NM_005765.3(ATP6AP2):c.859-11C>G
|
rs767283025
|
|
|
NM_005765.3(ATP6AP2):c.859-5T>C
|
|
|
|
NM_005765.3(ATP6AP2):c.878A>C (p.Tyr293Ser)
|
|
|
|
NM_005765.3(ATP6AP2):c.891T>C (p.Tyr297=)
|
|
|
|
NM_005765.3(ATP6AP2):c.913G>A (p.Val305Met)
|
|
|
|
NM_005765.3(ATP6AP2):c.930A>G (p.Val310=)
|
|
|
|
NM_005765.3(ATP6AP2):c.942G>A (p.Met314Ile)
|
rs2146547241
|
|
|
NM_005765.3(ATP6AP2):c.945C>T (p.Ile315=)
|
|
|
|
NM_005765.3(ATP6AP2):c.946G>A (p.Ala316Thr)
|
|
|
|
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_006013.5(RPL10):c.191-5C>T
|
rs1286783643
|
|
|
NM_006013.5(RPL10):c.191C>T (p.Ala64Val)
|
rs1131692042
|
|
|
NM_006013.5(RPL10):c.214G>A (p.Ala72Thr)
|
|
|
|
NM_006013.5(RPL10):c.218A>C (p.Asn73Thr)
|
rs2148138707
|
|
|
NM_006013.5(RPL10):c.232A>G (p.Lys78Glu)
|
rs1131692040
|
|
|
NM_006013.5(RPL10):c.347G>A (p.Arg116Gln)
|
rs2068007021
|
|
|
NM_006013.5(RPL10):c.481G>A (p.Gly161Ser)
|
rs1131692041
|
|
|
NM_006013.5(RPL10):c.535G>A (p.Asp179Asn)
|
|
|
|
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)
|
rs1019534975
|
|
|
NM_006013.5(RPL10):c.578A>G (p.Asp193Gly)
|
rs2068013450
|
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[4]
|
rs760787234
|
|
|
NM_006517.5(SLC16A2):c.-53A>C
|
rs587784385
|
|
|
NM_006517.5(SLC16A2):c.-6_430+5del
|
rs2147833779
|
|
|
NM_006517.5(SLC16A2):c.1015dup (p.Tyr339fs)
|
|
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
|
NM_006517.5(SLC16A2):c.1070G>A (p.Trp357Ter)
|
rs1380635081
|
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
|
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter)
|
rs104894940
|
|
|
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6])
|
rs757881983
|
|
|
NM_006517.5(SLC16A2):c.1170+4_1170+7del
|
rs1555989846
|
|
|
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
|
rs122455132
|
|
|
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)
|
rs2147871837
|
|
|
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)
|
rs367543059
|
|
|
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
|
rs1602143383
|
|
|
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)
|
rs2147871878
|
|
|
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)
|
rs113994164
|
|
|
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro)
|
rs104894931
|
|
|
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
|
rs1602143432
|
|
|
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)
|
rs2147871919
|
|
|
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
|
|
|
|
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)
|
rs1363308293
|
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
|
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)
|
rs2147350836
|
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
|
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)
|
rs1569281085
|
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
|
NM_006517.5(SLC16A2):c.232G>T (p.Glu78Ter)
|
|
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
|
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
|
rs933036653
|
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
|
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg)
|
rs1928309226
|
|
|
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)
|
rs113994162
|
|
|
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
|
|
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
|
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)
|
rs1602099961
|
|
|
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)
|
rs1602099961
|
|
|
NM_006517.5(SLC16A2):c.431-2A>G
|
rs2147869490
|
|
|
NM_006517.5(SLC16A2):c.431-44029A>C
|
rs1303981973
|
|
|
NM_006517.5(SLC16A2):c.434G>A (p.Trp145Ter)
|
rs1555989364
|
|
|
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)
|
rs1930396705
|
|
|
NM_006517.5(SLC16A2):c.439G>A (p.Gly147Arg)
|
rs1602140936
|
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
|
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)
|
rs104894936
|
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
|
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)
|
rs1930398120
|
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
|
NM_006517.5(SLC16A2):c.532dup (p.Ala178fs)
|
|
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
|
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)
|
rs2147870528
|
|
|
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
|
|
|
|
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
|
|
|
|
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp)
|
rs1930457917
|
|
|
NM_006517.5(SLC16A2):c.698G>T (p.Gly233Val)
|
|
|
|
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
|
|
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
|
NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)
|
rs2147870614
|
|
|
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
|
|
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
|
NM_006517.5(SLC16A2):c.972G>A (p.Trp324Ter)
|
rs1930463806
|
|
|
NM_006517.5(SLC16A2):c.976T>C (p.Phe326Leu)
|
|
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
|
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)
|
rs2147833877
|
|
|
NM_006517.5(SLC16A2):c.993del (p.Ala332fs)
|
|
|
|
NM_006521.6(TFE3):c.350G>A (p.Arg117Gln)
|
rs2147777346
|
|
|
NM_006521.6(TFE3):c.356A>C (p.Gln119Pro)
|
rs2147777343
|
|
|
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
|
|
|
|
NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)
|
|
|
|
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
|
|
|
|
NM_006521.6(TFE3):c.557C>T (p.Pro186Leu)
|
|
|
|
NM_006521.6(TFE3):c.559A>G (p.Thr187Ala)
|
rs2147776463
|
|
|
NM_006521.6(TFE3):c.560C>A (p.Thr187Lys)
|
|
|
|
NM_006521.6(TFE3):c.560C>G (p.Thr187Arg)
|
rs2064742925
|
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
|
NM_006521.6(TFE3):c.569A>G (p.His190Arg)
|
rs2147776445
|
|
|
NM_006521.6(TFE3):c.569_583del (p.His190_Ala194del)
|
rs2147776427
|
|
|
NM_006521.6(TFE3):c.583_597dup (p.Arg195_Val199dup)
|
rs2147776393
|
|
|
NM_006521.6(TFE3):c.593A>C (p.Gln198Pro)
|
|
|
|
NM_006521.6(TFE3):c.602A>C (p.Gln201Pro)
|
rs2147776381
|
|
|
NM_006521.6(TFE3):c.780+1G>A
|
rs2147776168
|
|
|
NM_006521.6(TFE3):c.780+1_780+2dup
|
|
|
|
NM_006950.3(SYN1):c.1001del (p.Asn334fs)
|
rs1603051674
|
|
|
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=)
|
|
|
|
NM_006950.3(SYN1):c.1046T>C (p.Met349Thr)
|
rs2057777596
|
|
|
NM_006950.3(SYN1):c.1055+11C>T
|
|
|
|
NM_006950.3(SYN1):c.1055+17C>G
|
|
|
|
NM_006950.3(SYN1):c.1055+5G>A
|
rs1479589627
|
|
|
NM_006950.3(SYN1):c.1055+9C>T
|
|
|
|
NM_006950.3(SYN1):c.1056-14_1056-8del
|
rs377385507
|
|
|
NM_006950.3(SYN1):c.1056-20C>T
|
|
|
|
NM_006950.3(SYN1):c.1067G>A (p.Trp356Ter)
|
rs137852560
|
|
|
NM_006950.3(SYN1):c.1072G>A (p.Asp358Asn)
|
|
|
|
NM_006950.3(SYN1):c.1077G>A (p.Thr359=)
|
|
|
|
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=)
|
|
|
|
NM_006950.3(SYN1):c.1149C>T (p.His383=)
|
|
|
|
NM_006950.3(SYN1):c.1158+15G>T
|
|
|
|
NM_006950.3(SYN1):c.1158+16G>A
|
|
|
|
NM_006950.3(SYN1):c.1158+1G>T
|
|
|
|
NM_006950.3(SYN1):c.1158+8C>T
|
|
|
|
NM_006950.3(SYN1):c.1159-10C>T
|
|
|
|
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.1166dup (p.Ser390fs)
|
rs2147912740
|
|
|
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)
|
|
|
|
NM_006950.3(SYN1):c.120C>T (p.Pro40=)
|
|
|
|
NM_006950.3(SYN1):c.1215C>A (p.Leu405=)
|
|
|
|
NM_006950.3(SYN1):c.1218C>T (p.Ile406=)
|
|
|
|
NM_006950.3(SYN1):c.121G>A (p.Gly41Arg)
|
rs2057941966
|
|
|
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.122del (p.Gly41fs)
|
rs2147933505
|
|
|
NM_006950.3(SYN1):c.1236C>T (p.Asn412=)
|
|
|
|
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.1258dup (p.Arg420fs)
|
|
|
|
NM_006950.3(SYN1):c.1264C>A (p.Arg422=)
|
rs757027813
|
|
|
NM_006950.3(SYN1):c.1264C>T (p.Arg422Ter)
|
rs757027813
|
|
|
NM_006950.3(SYN1):c.1265G>A (p.Arg422Gln)
|
|
|
|
NM_006950.3(SYN1):c.1266del (p.Gln423fs)
|
|
|
|
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
|
|
|
|
NM_006950.3(SYN1):c.1306-18T>C
|
|
|
|
NM_006950.3(SYN1):c.1306-5C>T
|
|
|
|
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.1321dup (p.Ala441fs)
|
|
|
|
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.1406dup (p.Pro470fs)
|
|
|
|
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.1439dup (p.Leu481fs)
|
rs1556857481
|
|
|
NM_006950.3(SYN1):c.1444C>T (p.Gln482Ter)
|
|
|
|
NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter)
|
rs2057771219
|
|
|
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.1663C>T (p.Gln555Ter)
|
rs397514679
|
|
|
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.1729del (p.Ala577fs)
|
|
|
|
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.1794_1906del (p.Thr601fs)
|
|
|
|
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.2del (p.Met1fs)
|
rs2057942403
|
|
|
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.314del (p.Gly105fs)
|
rs1603078587
|
|
|
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.376T>A (p.Trp126Arg)
|
rs1556861783
|
|
|
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.39del (p.Phe13fs)
|
|
|
|
NM_006950.3(SYN1):c.405C>G (p.Ile135Met)
|
|
|
|
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.435G>A (p.Gln145=)
|
rs2147928661
|
|
|
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+1G>T
|
|
|
|
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.614T>A (p.Leu205Gln)
|
rs2057892972
|
|
|
NM_006950.3(SYN1):c.614_616dup (p.Leu205_Gln206insLeu)
|
|
|
|
NM_006950.3(SYN1):c.619T>C (p.Tyr207His)
|
|
|
|
NM_006950.3(SYN1):c.635G>A (p.Ser212Asn)
|
rs1556860638
|
|
|
NM_006950.3(SYN1):c.635G>T (p.Ser212Ile)
|
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.774G>T (p.Met258Ile)
|
|
|
|
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.838-2A>G
|
rs2147913419
|
|
|
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.954G>T (p.Lys318Asn)
|
|
|
|
NM_006950.3(SYN1):c.968A>G (p.Tyr323Cys)
|
|
|
|
NM_006950.3(SYN1):c.975del (p.Tyr326fs)
|
|
|
|
NM_006950.3(SYN1):c.986C>A (p.Thr329Lys)
|
rs2057777813
|
|
|
NM_006950.3(SYN1):c.986C>T (p.Thr329Met)
|
rs2057777813
|
|
|
NM_006950.3(SYN1):c.98C>A (p.Pro33Gln)
|
|
|
|
NM_006950.3(SYN1):c.98_114del (p.Pro33fs)
|
|
|
|
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)
|
rs562407134
|
|
|
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)
|
rs2147383715
|
|
|
NM_007325.5(GRIA3):c.1209A>C (p.Glu403Asp)
|
rs2045453992
|
|
|
NM_007325.5(GRIA3):c.1261G>C (p.Glu421Gln)
|
|
|
|
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)
|
rs2147384890
|
|
|
NM_007325.5(GRIA3):c.1531A>G (p.Ile511Val)
|
|
|
|
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
|
|
|
|
NM_007325.5(GRIA3):c.1581C>A (p.Ser527Arg)
|
|
|
|
NM_007325.5(GRIA3):c.1679T>C (p.Val560Ala)
|
|
|
|
NM_007325.5(GRIA3):c.1701C>A (p.Ser567Arg)
|
rs398123524
|
|
|
NM_007325.5(GRIA3):c.1844C>T (p.Ala615Val)
|
rs140908982
|
|
|
NM_007325.5(GRIA3):c.1888G>C (p.Gly630Arg)
|
rs587777361
|
|
|
NM_007325.5(GRIA3):c.1891C>A (p.Arg631Ser)
|
rs137852351
|
|
|
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
|
|
|
|
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)
|
rs1057521721
|
|
|
NM_007325.5(GRIA3):c.1957G>T (p.Ala653Ser)
|
|
|
|
NM_007325.5(GRIA3):c.1964T>C (p.Phe655Ser)
|
rs1135401788
|
|
|
NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)
|
|
|
|
NM_007325.5(GRIA3):c.2038_2040delinsTGT (p.Gly680Cys)
|
rs2147401116
|
|
|
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)
|
rs2045826576
|
|
|
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu)
|
rs1569441235
|
|
|
NM_007325.5(GRIA3):c.2117T>C (p.Met706Thr)
|
rs137852352
|
|
|
NM_007325.5(GRIA3):c.2171G>A (p.Arg724Gln)
|
|
|
|
NM_007325.5(GRIA3):c.2189G>C (p.Gly730Ala)
|
rs866395967
|
|
|
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)
|
rs1569442989
|
|
|
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile)
|
rs1569443329
|
|
|
NM_007325.5(GRIA3):c.2497G>A (p.Gly833Arg)
|
rs137852350
|
|
|
NM_007325.5(GRIA3):c.268+16757dup
|
rs778944548
|
|
|
NM_007325.5(GRIA3):c.268+16762dup
|
rs11452643
|
|
|
NM_007325.5(GRIA3):c.268+16792G>A
|
rs1927781157
|
|
|
NM_007325.5(GRIA3):c.284C>T (p.Ser95Leu)
|
|
|
|
NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)
|
|
|
|
NM_007325.5(GRIA3):c.384dup (p.Phe129fs)
|
rs2147282654
|
|
|
NM_007325.5(GRIA3):c.536A>G (p.Glu179Gly)
|
|
|
|
NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter)
|
rs139990565
|
|
|
NM_007325.5(GRIA3):c.69G>A (p.Leu23=)
|
rs759740734
|
|
|
NM_007325.5(GRIA3):c.783G>A (p.Met261Ile)
|
|
|
|
NM_007325.5(GRIA3):c.812A>G (p.Gln271Arg)
|
rs2045406349
|
|
|
NM_007325.5(GRIA3):c.826G>C (p.Glu276Gln)
|
rs2147378779
|
|
|
NM_007325.5(GRIA3):c.949A>G (p.Ile317Val)
|
rs2147381088
|
|
|
NM_007363.5(NONO):c.107del (p.Pro36fs)
|
rs1602385860
|
|
|
NM_007363.5(NONO):c.1093C>T (p.Arg365Ter)
|
rs869025345
|
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
|
NM_007363.5(NONO):c.1171+1G>T
|
rs876661316
|
|
|
NM_007363.5(NONO):c.1171G>T (p.Gly391Cys)
|
rs1114167441
|
|
|
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs)
|
rs2031508845
|
|
|
NM_007363.5(NONO):c.1242del (p.Gly415fs)
|
rs2148040741
|
|
|
NM_007363.5(NONO):c.1394dup (p.Asn466fs)
|
rs869025344
|
|
|
NM_007363.5(NONO):c.154+1GT[2]
|
|
|
|
NM_007363.5(NONO):c.201_202dup (p.Lys68fs)
|
rs2148033408
|
|
|
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
|
|
|
|
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
|
rs2148033495
|
|
|
NM_007363.5(NONO):c.298_307del (p.Ala100fs)
|
|
|
|
NM_007363.5(NONO):c.315_318del (p.His106fs)
|
rs2148033533
|
|
|
NM_007363.5(NONO):c.322_348+280del
|
rs2148033540
|
|
|
NM_007363.5(NONO):c.457C>T (p.Arg153Ter)
|
rs2031389522
|
|
|
NM_007363.5(NONO):c.550C>T (p.Arg184Ter)
|
rs1602387702
|
|
|
NM_007363.5(NONO):c.651-1G>C
|
rs2031456898
|
|
|
NM_007363.5(NONO):c.731dup (p.Asn244fs)
|
rs1555950011
|
|
|
NM_007363.5(NONO):c.809G>T (p.Arg270Leu)
|
|
|
|
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
|
|
|
|
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
|
|
|
|
NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys)
|
rs2091890198
|
|
|
NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter)
|
rs2147123782
|
|
|
NM_014927.5(CNKSR2):c.1268G>A (p.Ser423Asn)
|
|
|
|
NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln)
|
rs2092188951
|
|
|
NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val)
|
rs2092208925
|
|
|
NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)
|
rs2147191275
|
|
|
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter)
|
rs2092414327
|
|
|
NM_014927.5(CNKSR2):c.1657+1G>A
|
|
|
|
NM_014927.5(CNKSR2):c.1679A>G (p.Lys560Arg)
|
|
|
|
NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser)
|
rs2092417660
|
|
|
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter)
|
rs1569261319
|
|
|
NM_014927.5(CNKSR2):c.1844_1846del (p.Glu615del)
|
rs2147257943
|
|
|
NM_014927.5(CNKSR2):c.1904+6T>C
|
|
|
|
NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs)
|
rs2092480172
|
|
|
NM_014927.5(CNKSR2):c.2024_2027del (p.Glu675fs)
|
|
|
|
NM_014927.5(CNKSR2):c.2041C>T (p.Gln681Ter)
|
rs2147268813
|
|
|
NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter)
|
rs904072058
|
|
|
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)
|
|
|
|
NM_014927.5(CNKSR2):c.2228A>C (p.Glu743Ala)
|
|
|
|
NM_014927.5(CNKSR2):c.2336C>G (p.Ser779Ter)
|
rs2147283343
|
|
|
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del)
|
rs770084913
|
|
|
NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln)
|
rs1288431232
|
|
|
NM_014927.5(CNKSR2):c.3010A>G (p.Thr1004Ala)
|
|
|
|
NM_014927.5(CNKSR2):c.453dup (p.Asp152fs)
|
rs606231282
|
|
|
NM_014927.5(CNKSR2):c.548_551del (p.Lys183fs)
|
rs2147143428
|
|
|
NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn)
|
rs2090566346
|
|
|
NM_015107.3(PHF8):c.-60C>T
|
rs1557116325
|
|
|
NM_015107.3(PHF8):c.-63C>A
|
rs781976643
|
|
|
NM_015107.3(PHF8):c.1185T>C (p.His395=)
|
rs1468021929
|
|
|
NM_015107.3(PHF8):c.1233+6T>C
|
|
|
|
NM_015107.3(PHF8):c.1349A>G (p.Lys450Arg)
|
rs2065708006
|
|
|
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
|
|
|
|
NM_015107.3(PHF8):c.1620del (p.Ala541fs)
|
rs2149839580
|
|
|
NM_015107.3(PHF8):c.1880del (p.Lys627fs)
|
rs2065590491
|
|
|
NM_015107.3(PHF8):c.197G>A (p.Arg66His)
|
rs1557110261
|
|
|
NM_015107.3(PHF8):c.1995+1G>A
|
|
|
|
NM_015107.3(PHF8):c.2129+39G>C
|
rs2065554551
|
|
|
NM_015107.3(PHF8):c.2132A>C (p.Glu711Ala)
|
|
|
|
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
|
|
|
|
NM_015107.3(PHF8):c.2345G>C (p.Arg782Pro)
|
rs782358977
|
|
|
NM_015107.3(PHF8):c.2444-2A>G
|
rs1603305030
|
|
|
NM_015107.3(PHF8):c.2455del (p.Leu819fs)
|
rs2065126287
|
|
|
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln)
|
rs2149796421
|
|
|
NM_015107.3(PHF8):c.2959G>A (p.Gly987Ser)
|
|
|
|
NM_015107.3(PHF8):c.377del (p.Leu126fs)
|
rs1057518729
|
|
|
NM_015107.3(PHF8):c.529A>T (p.Lys177Ter)
|
rs121918523
|
|
|
NM_015107.3(PHF8):c.631C>T (p.Arg211Ter)
|
rs121918522
|
|
|
NM_015107.3(PHF8):c.738dup (p.His247fs)
|
|
|
|
NM_015107.3(PHF8):c.836T>C (p.Phe279Ser)
|
rs121918524
|
|
|
NM_015107.3(PHF8):c.865A>T (p.Asn289Tyr)
|
|
|
|
NM_015107.3(PHF8):c.943_946+8del
|
|
|
|
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.167+1G>A
|
|
|
|
NM_016032.4(ZDHHC9):c.167+5G>C
|
rs606231183
|
|
|
NM_016032.4(ZDHHC9):c.172_175del (p.Arg58fs)
|
rs606231182
|
|
|
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.268G>A (p.Asp90Asn)
|
|
|
|
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.354G>C (p.Gln118His)
|
rs1927947896
|
|
|
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.421T>C (p.Cys141Arg)
|
rs1927945327
|
|
|
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.448C>T (p.Pro150Ser)
|
rs137852215
|
|
|
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.496G>A (p.Asp166Asn)
|
rs2124105757
|
|
|
NM_016032.4(ZDHHC9):c.516G>A (p.Val172=)
|
|
|
|
NM_016032.4(ZDHHC9):c.51C>T (p.Leu17=)
|
rs2124141410
|
|
|
NM_016032.4(ZDHHC9):c.523T>G (p.Cys175Gly)
|
rs2124105731
|
|
|
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.566T>C (p.Leu189Pro)
|
|
|
|
NM_016032.4(ZDHHC9):c.586A>G (p.Ile196Val)
|
|
|
|
NM_016032.4(ZDHHC9):c.597C>T (p.Phe199=)
|
|
|
|
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu)
|
rs2124105600
|
|
|
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.852dup (p.Glu285Ter)
|
rs1927638009
|
|
|
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.892C>T (p.Arg298Ter)
|
|
|
|
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_016937.3(POLA1):c.445_507del
|
rs1569277866
|
|
|
NM_019597.5(HNRNPH2):c.1019A>T (p.Asp340Val)
|
rs1928852920
|
|
|
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp)
|
rs782191163
|
|
|
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
|
|
|
|
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
|
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
|
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu)
|
rs1555988417
|
|
|
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)
|
rs1555988422
|
|
|
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)
|
rs1928842837
|
|
|
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys)
|
|
|
|
NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly)
|
rs1931268073
|
|
|
NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser)
|
rs1931266627
|
|
|
NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr)
|
rs1473207542
|
|
|
NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp)
|
rs1931243162
|
|
|
NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala)
|
rs1931218179
|
|
|
NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr)
|
rs1931184202
|
|
|
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)
|
rs1313449720
|
|
|
NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile)
|
rs782154529
|
|
|
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile)
|
rs1569546782
|
|
|
NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys)
|
|
|
|
NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu)
|
rs1477304591
|
|
|
NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val)
|
|
|
|
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup)
|
rs201922875
|
|
|
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup)
|
rs143151534
|
|
|
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)
|
rs886044870
|
|
|
NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln)
|
rs1929724067
|
|
|
NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys)
|
|
|
|
NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn)
|
|
|
|
NM_020717.5(SHROOM4):c.3942+1G>A
|
|
|
|
NM_020717.5(SHROOM4):c.4212+1G>A
|
rs2147209054
|
|
|
NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser)
|
rs1931302115
|
|
|
NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys)
|
|
|
|
NM_020922.5(WNK3):c.1089+1G>A
|
|
|
|
NM_020922.5(WNK3):c.322_323del (p.Gln108fs)
|
|
|
|
NM_020922.5(WNK3):c.611C>G (p.Pro204Arg)
|
|
|
|
NM_020922.5(WNK3):c.721C>T (p.Arg241Ter)
|
|
|
|
NM_020922.5(WNK3):c.899T>C (p.Leu300Ser)
|
|
|
|
NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr)
|
rs1603379772
|
|
|
NM_024528.4(NKAP):c.1073+1672_1074-1701del
|
|
|
|
NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln)
|
rs1603379318
|
|
|
NM_024528.4(NKAP):c.128G>A (p.Arg43His)
|
|
|
|
NM_024528.4(NKAP):c.143C>G (p.Ser48Cys)
|
|
|
|
NM_024528.4(NKAP):c.538+8T>A
|
rs194308
|
|
|
NM_024528.4(NKAP):c.539-17A>T
|
rs194307
|
|
|
NM_024528.4(NKAP):c.550A>G (p.Lys184Glu)
|
|
|
|
NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del)
|
rs10577974
|
|
|
NM_024528.4(NKAP):c.812A>T (p.Glu271Val)
|
|
|
|
NM_024528.4(NKAP):c.961A>G (p.Met321Val)
|
rs2147845271
|
|
|
NM_024528.4(NKAP):c.988C>T (p.Arg330Cys)
|
rs1603379781
|
|
|
NM_024528.4(NKAP):c.989G>A (p.Arg330His)
|
rs1603379780
|
|
|
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)
|
rs1603379779
|
|
|
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.1237G>A (p.Gly413Arg)
|
rs1602612611
|
|
|
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)
|
rs1057518699
|
|
|
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
|
|
|
|
NM_031206.7(LAS1L):c.1298C>T (p.Thr433Ile)
|
rs2068997748
|
|
|
NM_031206.7(LAS1L):c.1301-10T>C
|
|
|
|
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>A (p.Pro524Thr)
|
|
|
|
NM_031206.7(LAS1L):c.1570C>G (p.Pro524Ala)
|
rs2068725707
|
|
|
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
|
|
|
|
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
|
|
|
|
NM_031206.7(LAS1L):c.1662A>G (p.Gln554=)
|
|
|
|
NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del)
|
rs747219544
|
|
|
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.1961G>T (p.Arg654Leu)
|
rs1556298998
|
|
|
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.2057A>G (p.Glu686Gly)
|
|
|
|
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.311G>T (p.Gly104Val)
|
|
|
|
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.515-6C>G
|
rs1379421207
|
|
|
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.806C>G (p.Ala269Gly)
|
rs1173514495
|
|
|
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_031407.7(HUWE1):c.-24-2A>G
|
rs1569511527
|
|
|
NM_031407.7(HUWE1):c.10111G>A (p.Ala3371Thr)
|
|
|
|
NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)
|
|
|
|
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala)
|
rs2061606792
|
|
|
NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)
|
|
|
|
NM_031407.7(HUWE1):c.10721C>G (p.Ser3574Cys)
|
|
|
|
NM_031407.7(HUWE1):c.10973G>A (p.Cys3658Tyr)
|
|
|
|
NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)
|
|
|
|
NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)
|
|
|
|
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
|
|
|
|
NM_031407.7(HUWE1):c.11501A>T (p.Glu3834Val)
|
|
|
|
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
|
|
|
|
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter)
|
rs1085307073
|
|
|
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)
|
rs121918525
|
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
|
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
|
|
|
|
NM_031407.7(HUWE1):c.12188G>A (p.Arg4063Gln)
|
rs1569399945
|
|
|
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe)
|
rs1556913268
|
|
|
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys)
|
rs1556913258
|
|
|
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
|
|
|
|
NM_031407.7(HUWE1):c.12293A>G (p.His4098Arg)
|
rs2146879830
|
|
|
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)
|
rs1556913180
|
|
|
NM_031407.7(HUWE1):c.12335G>A (p.Arg4112His)
|
|
|
|
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro)
|
rs2146878120
|
|
|
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)
|
rs1556912828
|
|
|
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser)
|
rs121918527
|
|
|
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala)
|
rs2146826433
|
|
|
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
|
|
|
|
NM_031407.7(HUWE1):c.12639G>A (p.Met4213Ile)
|
rs2060994971
|
|
|
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val)
|
rs398124423
|
|
|
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
|
|
|
|
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)
|
rs1556910184
|
|
|
NM_031407.7(HUWE1):c.12778G>A (p.Asp4260Asn)
|
|
|
|
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
|
|
|
|
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)
|
rs1325394060
|
|
|
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)
|
rs1556909287
|
|
|
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala)
|
rs2066616886
|
|
|
NM_031407.7(HUWE1):c.1445C>T (p.Pro482Leu)
|
rs2066586691
|
|
|
NM_031407.7(HUWE1):c.145-2A>G
|
rs1569509136
|
|
|
NM_031407.7(HUWE1):c.1489+6T>C
|
|
|
|
NM_031407.7(HUWE1):c.1779+5G>A
|
rs2148854427
|
|
|
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
|
|
|
|
NM_031407.7(HUWE1):c.1940G>A (p.Arg647Lys)
|
|
|
|
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)
|
rs1557006903
|
|
|
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln)
|
rs1557006873
|
|
|
NM_031407.7(HUWE1):c.212C>T (p.Thr71Ile)
|
|
|
|
NM_031407.7(HUWE1):c.2195_2203del (p.Glu732_Glu734del)
|
|
|
|
NM_031407.7(HUWE1):c.2210C>T (p.Ala737Val)
|
rs2148818275
|
|
|
NM_031407.7(HUWE1):c.2281C>T (p.Arg761Cys)
|
|
|
|
NM_031407.7(HUWE1):c.2320-19A>G
|
|
|
|
NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)
|
|
|
|
NM_031407.7(HUWE1):c.2656T>A (p.Ser886Thr)
|
|
|
|
NM_031407.7(HUWE1):c.2803A>G (p.Ser935Gly)
|
|
|
|
NM_031407.7(HUWE1):c.286G>A (p.Val96Met)
|
|
|
|
NM_031407.7(HUWE1):c.2960del (p.Gly987fs)
|
|
|
|
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)
|
|
|
|
NM_031407.7(HUWE1):c.3205CTT[1] (p.Leu1070del)
|
|
|
|
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)
|
rs1057518704
|
|
|
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp)
|
rs1057520538
|
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
|
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)
|
rs1557036757
|
|
|
NM_031407.7(HUWE1):c.353A>G (p.His118Arg)
|
|
|
|
NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr)
|
rs371644969
|
|
|
NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)
|
|
|
|
NM_031407.7(HUWE1):c.3896GAG[1] (p.Gly1300del)
|
|
|
|
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val)
|
rs1556978515
|
|
|
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val)
|
rs863224879
|
|
|
NM_031407.7(HUWE1):c.401T>G (p.Val134Gly)
|
|
|
|
NM_031407.7(HUWE1):c.4461+96T>G
|
rs1020095850
|
|
|
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu)
|
rs1602910127
|
|
|
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met)
|
rs1569473370
|
|
|
NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu)
|
rs2149250400
|
|
|
NM_031407.7(HUWE1):c.485G>A (p.Arg162Gln)
|
|
|
|
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys)
|
rs201226547
|
|
|
NM_031407.7(HUWE1):c.5101G>A (p.Glu1701Lys)
|
rs2148314338
|
|
|
NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)
|
|
|
|
NM_031407.7(HUWE1):c.5167C>A (p.Pro1723Thr)
|
|
|
|
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
|
|
|
|
NM_031407.7(HUWE1):c.5339G>A (p.Arg1780His)
|
|
|
|
NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)
|
|
|
|
NM_031407.7(HUWE1):c.567+1G>C
|
rs1557024919
|
|
|
NM_031407.7(HUWE1):c.5884+3A>G
|
rs2148030893
|
|
|
NM_031407.7(HUWE1):c.5885-1G>C
|
|
|
|
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
|
|
|
|
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys)
|
rs1602749982
|
|
|
NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)
|
|
|
|
NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)
|
|
|
|
NM_031407.7(HUWE1):c.6098-20_6109del
|
rs1602738933
|
|
|
NM_031407.7(HUWE1):c.6211A>G (p.Ile2071Val)
|
|
|
|
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met)
|
rs1556955128
|
|
|
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
|
|
|
|
NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)
|
|
|
|
NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)
|
|
|
|
NM_031407.7(HUWE1):c.646-1G>A
|
rs2149065229
|
|
|
NM_031407.7(HUWE1):c.6866A>T (p.Asn2289Ile)
|
|
|
|
NM_031407.7(HUWE1):c.6976G>T (p.Asp2326Tyr)
|
rs1569448303
|
|
|
NM_031407.7(HUWE1):c.7305GGA[6] (p.Glu2440dup)
|
rs781877059
|
|
|
NM_031407.7(HUWE1):c.7507+7T>C
|
rs2147654560
|
|
|
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
|
|
|
|
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys)
|
rs2062224866
|
|
|
NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)
|
|
|
|
NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)
|
|
|
|
NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)
|
|
|
|
NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His)
|
rs782530883
|
|
|
NM_031407.7(HUWE1):c.8321T>C (p.Leu2774Pro)
|
|
|
|
NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser)
|
rs2047925685
|
|
|
NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)
|
|
|
|
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met)
|
rs2147396387
|
|
|
NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)
|
|
|
|
NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)
|
|
|
|
NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)
|
|
|
|
NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu)
|
rs2147326587
|
|
|
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)
|
rs121918526
|
|
|
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly)
|
rs1401359685
|
|
|
NM_031407.7(HUWE1):c.9118G>A (p.Glu3040Lys)
|
|
|
|
NM_031407.7(HUWE1):c.9166A>C (p.Met3056Leu)
|
rs2147292812
|
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
|
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His)
|
rs2061745581
|
|
|
NM_031407.7(HUWE1):c.9514C>G (p.Leu3172Val)
|
rs2147253217
|
|
|
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser)
|
rs782393002
|
|
|
NM_031407.7(HUWE1):c.9608G>A (p.Ser3203Asn)
|
|
|
|
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser)
|
rs2147247961
|
|
|
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.1060C>T (p.Arg354Ter)
|
rs2056119926
|
|
|
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.1147G>T (p.Glu383Ter)
|
|
|
|
NM_080632.3(UPF3B):c.1158T>C (p.Phe386=)
|
rs2056117477
|
|
|
NM_080632.3(UPF3B):c.1166_1167del (p.Lys389fs)
|
rs2147783395
|
|
|
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.1288C>T (p.Arg430Ter)
|
rs122468181
|
|
|
NM_080632.3(UPF3B):c.1303-19A>G
|
|
|
|
NM_080632.3(UPF3B):c.133_135del (p.Glu45del)
|
|
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|
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)
|
rs1556377028
|
|
|
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=)
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|
|
|
NM_080632.3(UPF3B):c.15G>A (p.Lys5=)
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|
|
|
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)
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|
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|
NM_080632.3(UPF3B):c.190A>G (p.Lys64Glu)
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|
|
NM_080632.3(UPF3B):c.195G>A (p.Glu65=)
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|
|
|
NM_080632.3(UPF3B):c.224C>T (p.Pro75Leu)
|
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|
|
NM_080632.3(UPF3B):c.228G>A (p.Glu76=)
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|
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
|
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NM_080632.3(UPF3B):c.241G>A (p.Glu81Lys)
|
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|
NM_080632.3(UPF3B):c.261G>A (p.Thr87=)
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|
|
|
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.270T>G (p.Tyr90Ter)
|
|
|
|
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.478T>G (p.Tyr160Asp)
|
rs122468182
|
|
|
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.575_578del (p.Glu191_Leu192insTer)
|
rs1603371016
|
|
|
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.646_647del (p.Glu216fs)
|
|
|
|
NM_080632.3(UPF3B):c.659G>A (p.Arg220Lys)
|
|
|
|
NM_080632.3(UPF3B):c.66C>T (p.Ala22=)
|
rs890947408
|
|
|
NM_080632.3(UPF3B):c.670G>T (p.Glu224Ter)
|
rs2147787331
|
|
|
NM_080632.3(UPF3B):c.674_677del (p.Arg225fs)
|
rs794727881
|
|
|
NM_080632.3(UPF3B):c.697_698del (p.Arg233fs)
|
rs1064794254
|
|
|
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.815G>A (p.Arg272Lys)
|
|
|
|
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.867_868del (p.Gly290fs)
|
rs1603370185
|
|
|
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.982G>T (p.Glu328Ter)
|
rs376175156
|
|
|
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
|
|
|
|
NM_139058.3(ARX):c.1495G>A (p.Ala499Thr)
|
rs2147318769
|
|
|
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
|
|
|
|
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)
|
rs786203995
|
|
|
NM_139058.3(ARX):c.26dup (p.Cys10fs)
|
rs2147325489
|
|
|
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)
|
rs387906492
|
|
|
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)
|
rs387906493
|
|
|
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)
|
rs750585274
|
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
|
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys)
|
rs587777874
|
|
|
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg)
|
rs864309527
|
|
|
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)
|
rs2061711638
|
|
|
NM_203475.3(PORCN):c.1012G>T (p.Ala338Ser)
|
|
|
|
NM_203475.3(PORCN):c.1023+2T>A
|
rs1556975151
|
|
|
NM_203475.3(PORCN):c.1059_1071dup (p.Thr358fs)
|
rs587776737
|
|
|
NM_203475.3(PORCN):c.1076dup (p.Tyr359Ter)
|
|
|
|
NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)
|
|
|
|
NM_203475.3(PORCN):c.1094G>A (p.Arg365Gln)
|
rs2061714949
|
|
|
NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)
|
rs2147139830
|
|
|
NM_203475.3(PORCN):c.1225C>T (p.His409Tyr)
|
|
|
|
NM_203475.3(PORCN):c.1284+1G>A
|
|
|
|
NM_203475.3(PORCN):c.1356del (p.Cys453fs)
|
rs1602085557
|
|
|
NM_203475.3(PORCN):c.137-1G>C
|
|
|
|
NM_203475.3(PORCN):c.178G>A (p.Gly60Arg)
|
rs267606973
|
|
|
NM_203475.3(PORCN):c.222G>A (p.Trp74Ter)
|
rs137852219
|
|
|
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)
|
rs1114167283
|
|
|
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)
|
rs1602070472
|
|
|
NM_203475.3(PORCN):c.329+1G>A
|
rs1602070594
|
|
|
NM_203475.3(PORCN):c.329+1G>C
|
|
|
|
NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
|
|
|
|
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)
|
rs137852218
|
|
|
NM_203475.3(PORCN):c.374-2A>G
|
rs2147123496
|
|
|
NM_203475.3(PORCN):c.49_80del (p.Cys17fs)
|
rs2061661681
|
|
|
NM_203475.3(PORCN):c.502G>A (p.Gly168Arg)
|
|
|
|
NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)
|
rs1057519006
|
|
|
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
|
|
|
|
NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)
|
rs2147130188
|
|
|
NM_203475.3(PORCN):c.82C>T (p.Gln28Ter)
|
rs2061661896
|
|
|
NM_203475.3(PORCN):c.846-2A>G
|
|
|
|
NM_203475.3(PORCN):c.853_854delinsCCCCCAG (p.Thr285fs)
|
rs1556974808
|
|
|
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)
|
rs2061701575
|
|
|
NM_203475.3(PORCN):c.946+2_946+3del
|
rs2147131642
|
|
|
NM_203475.3(PORCN):c.964C>G (p.Leu322Val)
|
rs782200118
|
|
|
RPS6KA3, 187-BP DEL, NT406
|
|
|
|
Single allele
|
|
|
|
t(X;3)(q13.3;q11.2)dn
|
|
|