NM_000037.4(ANK1):c.129+125C>T
|
rs486223
|
0.98833
|
NM_000037.4(ANK1):c.5096+16T>C
|
rs508112
|
0.97818
|
NM_000037.4(ANK1):c.5544+146A>G
|
rs516946
|
0.78262
|
NM_000037.4(ANK1):c.5394+285C>G
|
rs573939
|
0.77350
|
NM_000037.4(ANK1):c.5479-3T>C
|
rs515071
|
0.75703
|
NM_000037.4(ANK1):c.712-136A>G
|
rs2099861
|
0.66600
|
NM_000037.4(ANK1):c.2559-101T>C
|
rs492008
|
0.65643
|
NM_000037.4(ANK1):c.1107+165T>C
|
rs7841341
|
0.62421
|
NM_000037.4(ANK1):c.229-47G>A
|
rs1872877
|
0.61566
|
NM_000037.4(ANK1):c.*37-259A>G
|
rs17659386
|
0.60132
|
NM_000037.4(ANK1):c.2461+170A>C
|
rs2304881
|
0.45942
|
NM_000037.4(ANK1):c.909+36A>G
|
rs7826127
|
0.38387
|
NM_000037.4(ANK1):c.1206+185C>T
|
rs2304875
|
0.35163
|
NM_000037.4(ANK1):c.2637+88A>G
|
rs2241896
|
0.34940
|
NM_000037.4(ANK1):c.2637+195A>G
|
rs559651
|
0.33449
|
NM_000037.4(ANK1):c.2637+188C>T
|
rs559000
|
0.33311
|
NM_000037.4(ANK1):c.2960+46C>T
|
rs2304883
|
0.32403
|
NM_000037.4(ANK1):c.5394+197G>A
|
rs541194
|
0.27057
|
NM_000037.4(ANK1):c.1207-200T>G
|
rs2304876
|
0.24931
|
NM_000037.4(ANK1):c.315C>T (p.Asn105=)
|
rs2304871
|
0.23757
|
NM_000037.4(ANK1):c.327+42A>C
|
rs2304872
|
0.22674
|
NM_000037.4(ANK1):c.5265G>A (p.Val1755=)
|
rs750625
|
0.21708
|
NM_000037.4(ANK1):c.2073C>T (p.Gly691=)
|
rs1137177
|
0.21318
|
NM_000037.4(ANK1):c.2295+176C>T
|
rs11778833
|
0.20414
|
NM_000037.4(ANK1):c.1405-121C>T
|
rs473235
|
0.19978
|
NM_000037.4(ANK1):c.228+215C>T
|
rs17661532
|
0.19240
|
NM_000037.4(ANK1):c.810+147C>T
|
rs2304874
|
0.19208
|
NM_000037.4(ANK1):c.229-53C>T
|
rs2304870
|
0.19181
|
NM_001142446.2(ANK1):c.126+30G>C
|
rs77115522
|
0.18323
|
NM_000037.4(ANK1):c.4104+171T>C
|
rs7831871
|
0.18120
|
NM_000037.4(ANK1):c.3859-195G>A
|
rs6987404
|
0.18095
|
NM_000037.4(ANK1):c.4101C>T (p.Ala1367=)
|
rs7816734
|
0.18067
|
NM_000037.4(ANK1):c.3859-90G>A
|
rs6987255
|
0.17944
|
NM_000037.4(ANK1):c.3859-92G>A
|
rs6987261
|
0.17941
|
NM_000037.4(ANK1):c.4104+85C>T
|
rs2278621
|
0.17053
|
NM_000037.4(ANK1):c.3859-318G>A
|
rs55924225
|
0.15223
|
NM_000037.4(ANK1):c.5097-147C>A
|
rs10481313
|
0.13912
|
NM_000037.4(ANK1):c.1107+58G>C
|
rs7823698
|
0.13665
|
NM_000037.4(ANK1):c.2559-165T>C
|
rs6474360
|
0.11463
|
NM_000037.4(ANK1):c.130-56G>A
|
rs2304869
|
0.11111
|
NM_000037.4(ANK1):c.712-166A>T
|
rs148588732
|
0.10659
|
NM_000037.4(ANK1):c.1701+109T>C
|
rs73619336
|
0.10287
|
NM_000037.4(ANK1):c.4258+33T>C
|
rs55846950
|
0.09620
|
NM_000037.4(ANK1):c.3858+295C>T
|
rs80338618
|
0.07952
|
NM_000037.4(ANK1):c.3328-108C>T
|
rs13438835
|
0.06807
|
NM_001142446.2(ANK1):c.-129C>T
|
rs112926512
|
0.05827
|
NM_000037.4(ANK1):c.*37-181G>A
|
rs79227184
|
0.05250
|
NM_000037.4(ANK1):c.1856G>A (p.Arg619His)
|
rs2304877
|
0.04842
|
NM_001142446.2(ANK1):c.127-39509T>C
|
rs77173848
|
0.04675
|
NM_000037.4(ANK1):c.*37-267A>G
|
rs72638945
|
0.04620
|
NM_000037.4(ANK1):c.*238T>C
|
rs72638944
|
0.04617
|
NM_000037.4(ANK1):c.910-119A>G
|
rs78660118
|
0.04468
|
NM_000037.4(ANK1):c.229-55C>T
|
rs80118742
|
0.04418
|
NM_000037.4(ANK1):c.909+7A>G
|
rs17661203
|
0.04301
|
NM_000037.4(ANK1):c.910-147G>A
|
rs17661031
|
0.04287
|
NM_000037.4(ANK1):c.711+256T>A
|
rs17603470
|
0.04282
|
NM_000037.4(ANK1):c.2558+128G>A
|
rs57017888
|
0.04191
|
NM_000037.4(ANK1):c.3486C>T (p.Ser1162=)
|
rs35964634
|
0.04182
|
NM_000037.4(ANK1):c.2389-45del
|
rs3217508
|
0.04161
|
NM_000037.4(ANK1):c.3973A>G (p.Met1325Val)
|
rs10093583
|
0.04068
|
NM_000037.4(ANK1):c.1320G>A (p.Pro440=)
|
rs28533718
|
0.03824
|
NM_000037.4(ANK1):c.2559-97G>A
|
rs55935493
|
0.03680
|
NM_000037.4(ANK1):c.*36+233G>A
|
rs77023555
|
0.03572
|
NM_000037.4(ANK1):c.2559-171G>A
|
rs7841477
|
0.03497
|
NM_000037.4(ANK1):c.5395-1147C>G
|
rs112350393
|
0.03054
|
NM_000037.4(ANK1):c.3116-122C>T
|
rs73617344
|
0.03049
|
NM_000037.4(ANK1):c.4105-287C>T
|
rs61559971
|
0.02204
|
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val)
|
rs34664882
|
0.02105
|
NM_000037.4(ANK1):c.3327+21C>G
|
rs61207451
|
0.01947
|
NM_001142446.2(ANK1):c.127-39554G>A
|
rs183894680
|
0.01664
|
NM_000037.4(ANK1):c.3224C>T (p.Thr1075Ile)
|
rs35213384
|
0.01414
|
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=)
|
rs147536061
|
0.01340
|
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys)
|
rs61735313
|
0.01280
|
NM_000037.4(ANK1):c.2970C>T (p.Ile990=)
|
rs34969689
|
0.01218
|
NM_000037.4(ANK1):c.2211C>G (p.Pro737=)
|
rs34194642
|
0.01217
|
NM_000037.4(ANK1):c.183G>C (p.Val61=)
|
rs61753680
|
0.01208
|
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=)
|
rs16890758
|
0.01205
|
NM_000037.4(ANK1):c.2296-20C>T
|
rs73619321
|
0.01143
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_000037.4(ANK1):c.*1708G>C
|
rs182454354
|
0.00775
|
NM_000037.4(ANK1):c.1590C>T (p.Ala530=)
|
rs61758865
|
0.00673
|
NM_000037.4(ANK1):c.1999-17C>T
|
rs28571216
|
0.00543
|
NM_000037.4(ANK1):c.-204C>G
|
rs117184692
|
0.00514
|
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=)
|
rs117516263
|
0.00465
|
NM_000037.4(ANK1):c.3033C>T (p.Ser1011=)
|
rs61758866
|
0.00422
|
NM_000037.4(ANK1):c.1506C>T (p.Ala502=)
|
rs34387324
|
0.00407
|
NM_000037.4(ANK1):c.2403G>A (p.Lys801=)
|
rs147130318
|
0.00376
|
NM_000037.4(ANK1):c.2735+10G>A
|
rs75296105
|
0.00374
|
NM_000037.4(ANK1):c.5544+46G>A
|
rs114905632
|
0.00304
|
NM_000037.4(ANK1):c.5097-34C>T
|
rs185434561
|
0.00261
|
NM_000037.4(ANK1):c.981C>T (p.Tyr327=)
|
rs61758867
|
0.00253
|
NM_000037.4(ANK1):c.2197-17G>A
|
rs188360816
|
0.00183
|
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr)
|
rs35797405
|
0.00170
|
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln)
|
rs34523608
|
0.00150
|
NM_000037.4(ANK1):c.2745G>A (p.Val915=)
|
rs143585080
|
0.00150
|
NM_000037.4(ANK1):c.5395-1162C>A
|
rs145094714
|
0.00138
|
NM_000037.4(ANK1):c.5479-17T>C
|
rs142836307
|
0.00138
|
NM_000037.4(ANK1):c.3532+13C>A
|
rs181905023
|
0.00122
|
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys)
|
rs146416859
|
0.00121
|
NM_000037.4(ANK1):c.2826G>A (p.Thr942=)
|
rs7002295
|
0.00119
|
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)
|
rs147608206
|
0.00119
|
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser)
|
rs142690258
|
0.00114
|
NM_000037.4(ANK1):c.1387G>A (p.Val463Ile)
|
rs140085544
|
0.00105
|
NM_000037.4(ANK1):c.2589C>T (p.Pro863=)
|
rs114870847
|
0.00102
|
NM_000037.4(ANK1):c.1896G>A (p.Ser632=)
|
rs140050236
|
0.00101
|
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=)
|
rs145169484
|
0.00101
|
NM_000037.4(ANK1):c.2960+13G>T
|
rs200746947
|
0.00099
|
NM_000037.4(ANK1):c.690C>G (p.Ala230=)
|
rs138331080
|
0.00098
|
NM_000037.4(ANK1):c.2132A>G (p.Tyr711Cys)
|
rs139375455
|
0.00093
|
NM_000037.4(ANK1):c.1257C>T (p.Ile419=)
|
rs139550171
|
0.00092
|
NM_000037.4(ANK1):c.5544+79C>T
|
rs199880684
|
0.00085
|
NM_000037.4(ANK1):c.2844C>T (p.Arg948=)
|
rs7001141
|
0.00069
|
NM_000037.4(ANK1):c.4713G>A (p.Ala1571=)
|
rs138394311
|
0.00068
|
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys)
|
rs142626656
|
0.00067
|
NM_000037.4(ANK1):c.1404+15C>T
|
rs201598401
|
0.00067
|
NM_000037.4(ANK1):c.2196+6G>A
|
rs200761553
|
0.00064
|
NM_000037.4(ANK1):c.4022C>T (p.Ser1341Leu)
|
rs145562489
|
0.00063
|
NM_000037.4(ANK1):c.1467G>A (p.Leu489=)
|
rs148165519
|
0.00057
|
NM_000037.4(ANK1):c.1483A>C (p.Asn495His)
|
rs143839208
|
0.00057
|
NM_000037.4(ANK1):c.2796C>T (p.Asn932=)
|
rs141257975
|
0.00054
|
NM_000037.4(ANK1):c.5615G>A (p.Arg1872Gln)
|
rs139762174
|
0.00046
|
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His)
|
rs201439151
|
0.00041
|
NM_000037.4(ANK1):c.2167C>A (p.His723Asn)
|
rs150899388
|
0.00039
|
NM_000037.4(ANK1):c.1337G>C (p.Arg446Thr)
|
rs142010751
|
0.00038
|
NM_000037.4(ANK1):c.229-11A>G
|
rs372152994
|
0.00035
|
NM_000037.4(ANK1):c.5395-1057C>T
|
rs372282334
|
0.00034
|
NM_000037.4(ANK1):c.3668T>C (p.Val1223Ala)
|
rs185516533
|
0.00033
|
NM_000037.4(ANK1):c.1203C>T (p.Thr401=)
|
rs145628190
|
0.00032
|
NM_000037.4(ANK1):c.3570A>C (p.Gly1190=)
|
rs762382303
|
0.00032
|
NM_000037.4(ANK1):c.1194C>T (p.Asp398=)
|
rs148471199
|
0.00030
|
NM_000037.4(ANK1):c.3984+9A>G
|
rs369984591
|
0.00029
|
NM_000037.4(ANK1):c.675C>T (p.Leu225=)
|
rs146507999
|
0.00026
|
NM_000037.4(ANK1):c.876G>A (p.Leu292=)
|
rs373060967
|
0.00026
|
NM_000037.4(ANK1):c.2097+15C>T
|
rs200206750
|
0.00023
|
NM_000037.4(ANK1):c.3533-10G>A
|
rs374510116
|
0.00019
|
NM_000037.4(ANK1):c.3955C>T (p.Arg1319Trp)
|
rs113948846
|
0.00019
|
NM_000037.4(ANK1):c.4099G>A (p.Ala1367Thr)
|
rs148620640
|
0.00019
|
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=)
|
rs144821829
|
0.00016
|
NM_000037.4(ANK1):c.3594C>T (p.Asn1198=)
|
rs186020985
|
0.00016
|
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=)
|
rs147232364
|
0.00016
|
NM_000037.4(ANK1):c.1293C>T (p.Asn431=)
|
rs377436685
|
0.00014
|
NM_000037.4(ANK1):c.3045C>T (p.Ser1015=)
|
rs112451551
|
0.00014
|
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=)
|
rs112677283
|
0.00014
|
NM_000037.4(ANK1):c.5045G>A (p.Arg1682Gln)
|
rs140231188
|
0.00014
|
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=)
|
rs150975400
|
0.00014
|
NM_000037.4(ANK1):c.2462-26G>A
|
rs374680836
|
0.00013
|
NM_000037.4(ANK1):c.2982G>A (p.Pro994=)
|
rs139623406
|
0.00013
|
NM_000037.4(ANK1):c.5574G>A (p.Pro1858=)
|
rs139528300
|
0.00013
|
NM_000037.4(ANK1):c.3039C>T (p.Asn1013=)
|
rs111620878
|
0.00012
|
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=)
|
rs755219802
|
0.00011
|
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=)
|
rs140964621
|
0.00011
|
NM_000037.4(ANK1):c.3984+12C>T
|
rs200019819
|
0.00011
|
NM_000037.4(ANK1):c.2389-10C>T
|
rs764935260
|
0.00010
|
NM_000037.4(ANK1):c.1926C>T (p.Ala642=)
|
rs534680895
|
0.00009
|
NM_000037.4(ANK1):c.3652C>T (p.Arg1218Trp)
|
rs142542271
|
0.00009
|
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu)
|
rs748160803
|
0.00009
|
NM_000037.4(ANK1):c.4665G>A (p.Thr1555=)
|
rs372732341
|
0.00009
|
NM_000037.4(ANK1):c.1859G>A (p.Ser620Asn)
|
rs750068521
|
0.00008
|
NM_000037.4(ANK1):c.5124G>A (p.Ser1708=)
|
rs143994699
|
0.00008
|
NM_000037.4(ANK1):c.5447C>T (p.Thr1816Met)
|
rs778838145
|
0.00008
|
NM_000037.4(ANK1):c.1227C>T (p.His409=)
|
rs572292527
|
0.00007
|
NM_000037.4(ANK1):c.1603-6C>T
|
rs751217909
|
0.00007
|
NM_000037.4(ANK1):c.2284G>A (p.Glu762Lys)
|
rs771469784
|
0.00006
|
NM_000037.4(ANK1):c.4105-5T>G
|
rs768183148
|
0.00006
|
NM_000037.4(ANK1):c.5051C>T (p.Thr1684Ile)
|
rs376601712
|
0.00006
|
NM_000037.4(ANK1):c.5178G>A (p.Thr1726=)
|
rs756122138
|
0.00006
|
NM_000037.4(ANK1):c.5223G>A (p.Gly1741=)
|
rs145473653
|
0.00006
|
NM_000037.4(ANK1):c.624G>A (p.Thr208=)
|
rs532040830
|
0.00006
|
NM_000037.4(ANK1):c.1197G>A (p.Ala399=)
|
rs756075877
|
0.00005
|
NM_000037.4(ANK1):c.1801-18C>T
|
rs756538201
|
0.00005
|
NM_000037.4(ANK1):c.4658C>T (p.Ala1553Val)
|
rs774117685
|
0.00005
|
NM_000037.4(ANK1):c.1480G>A (p.Ala494Thr)
|
rs190256257
|
0.00004
|
NM_000037.4(ANK1):c.3002G>A (p.Arg1001His)
|
rs144724635
|
0.00004
|
NM_000037.4(ANK1):c.4635C>T (p.Ala1545=)
|
rs142386792
|
0.00004
|
NM_000037.4(ANK1):c.909+24C>T
|
rs376868940
|
0.00004
|
NM_000037.4(ANK1):c.1341C>T (p.Ala447=)
|
rs768336827
|
0.00003
|
NM_000037.4(ANK1):c.2518G>A (p.Glu840Lys)
|
rs746374514
|
0.00003
|
NM_000037.4(ANK1):c.328-17C>T
|
rs1345182289
|
0.00003
|
NM_000037.4(ANK1):c.4259-13T>C
|
rs772895763
|
0.00003
|
NM_000037.4(ANK1):c.1178C>T (p.Thr393Met)
|
rs563833117
|
0.00002
|
NM_000037.4(ANK1):c.1327A>G (p.Met443Val)
|
rs769619019
|
0.00002
|
NM_000037.4(ANK1):c.1405-2A>G
|
rs1264533950
|
0.00002
|
NM_000037.4(ANK1):c.1563C>T (p.Ala521=)
|
rs762615459
|
0.00002
|
NM_000037.4(ANK1):c.1968G>A (p.Ser656=)
|
rs201462433
|
0.00002
|
NM_000037.4(ANK1):c.3115+8C>T
|
rs747861245
|
0.00002
|
NM_000037.4(ANK1):c.3816G>A (p.Gln1272=)
|
rs374155078
|
0.00002
|
NM_000037.4(ANK1):c.5370G>T (p.Lys1790Asn)
|
rs760157830
|
0.00002
|
NM_000037.4(ANK1):c.5395-1090G>A
|
rs1291679242
|
0.00002
|
NM_000037.4(ANK1):c.5486G>A (p.Arg1829His)
|
rs370175565
|
0.00002
|
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=)
|
rs116148295
|
0.00002
|
NM_000037.4(ANK1):c.5544+59T>A
|
rs770509350
|
0.00002
|
NM_000037.4(ANK1):c.723G>A (p.Thr241=)
|
rs1170323588
|
0.00002
|
NM_000037.4(ANK1):c.*36+1G>A
|
rs1301645470
|
0.00001
|
NM_000037.4(ANK1):c.117C>T (p.Asn39=)
|
rs758866739
|
0.00001
|
NM_000037.4(ANK1):c.1196C>T (p.Ala399Val)
|
rs753718191
|
0.00001
|
NM_000037.4(ANK1):c.1578A>G (p.Glu526=)
|
rs779446344
|
0.00001
|
NM_000037.4(ANK1):c.237C>T (p.Asn79=)
|
rs372696694
|
0.00001
|
NM_000037.4(ANK1):c.2424G>A (p.Glu808=)
|
rs763085301
|
0.00001
|
NM_000037.4(ANK1):c.24C>T (p.Arg8=)
|
rs764853398
|
0.00001
|
NM_000037.4(ANK1):c.3084C>T (p.Tyr1028=)
|
rs1032459507
|
0.00001
|
NM_000037.4(ANK1):c.31G>A (p.Asp11Asn)
|
rs760389556
|
0.00001
|
NM_000037.4(ANK1):c.4023G>A (p.Ser1341=)
|
rs371816885
|
0.00001
|
NM_000037.4(ANK1):c.4752T>G (p.Ser1584=)
|
rs200897610
|
0.00001
|
NM_000037.4(ANK1):c.5232C>T (p.Pro1744=)
|
rs146227434
|
0.00001
|
NM_000037.4(ANK1):c.5395-1080C>T
|
rs143349452
|
0.00001
|
NM_000037.4(ANK1):c.5497C>T (p.Arg1833Ter)
|
rs137852831
|
0.00001
|
NM_000037.4(ANK1):c.5545-72T>G
|
rs761575621
|
0.00001
|
NM_000037.4(ANK1):c.711+13C>T
|
rs763737257
|
0.00001
|
NM_000037.4(ANK1):c.882C>T (p.His294=)
|
rs775318818
|
0.00001
|
NM_000037.4(ANK1):c.912C>T (p.Asn304=)
|
rs377332629
|
0.00001
|
NM_000037.4(ANK1):c.96G>C (p.Leu32=)
|
rs769077232
|
0.00001
|
GRCh37/hg19 8p11.21(chr8:41721014-41761807)x3
|
|
|
NC_000008.10:g.(?_41525765)_(41526102_?)del
|
|
|
NC_000008.10:g.(?_41542042)_(41615675_?)del
|
|
|
NC_000008.11:g.41723224del
|
|
|
NC_000008.11:g.41896958T>G
|
rs117614251
|
|
NM_000037.4(ANK1):c.*2272C>G
|
rs2150523867
|
|
NM_000037.4(ANK1):c.*36+76C>G
|
rs3736217
|
|
NM_000037.4(ANK1):c.*385del
|
rs112209933
|
|
NM_000037.4(ANK1):c.*417G>C
|
rs980889226
|
|
NM_000037.4(ANK1):c.1039del (p.His347fs)
|
|
|
NM_000037.4(ANK1):c.1054A>G (p.Arg352Gly)
|
|
|
NM_000037.4(ANK1):c.1082G>A (p.Gly361Glu)
|
|
|
NM_000037.4(ANK1):c.1107+5G>C
|
|
|
NM_000037.4(ANK1):c.1108-1G>T
|
rs1586412723
|
|
NM_000037.4(ANK1):c.1108-28del
|
rs57093648
|
|
NM_000037.4(ANK1):c.1122del (p.Leu375fs)
|
|
|
NM_000037.4(ANK1):c.1169T>C (p.Leu390Pro)
|
|
|
NM_000037.4(ANK1):c.1175del (p.Lys392fs)
|
|
|
NM_000037.4(ANK1):c.1187C>T (p.Ser396Leu)
|
|
|
NM_000037.4(ANK1):c.1195G>A (p.Ala399Thr)
|
|
|
NM_000037.4(ANK1):c.1242G>A (p.Met414Ile)
|
|
|
NM_000037.4(ANK1):c.1252C>G (p.Pro418Ala)
|
|
|
NM_000037.4(ANK1):c.1270C>T (p.Leu424=)
|
|
|
NM_000037.4(ANK1):c.129+1G>A
|
|
|
NM_000037.4(ANK1):c.129+2dup
|
|
|
NM_000037.4(ANK1):c.130-20C>T
|
|
|
NM_000037.4(ANK1):c.1306-167T>G
|
rs575817
|
|
NM_000037.4(ANK1):c.1359C>T (p.Ala453=)
|
rs1586397519
|
|
NM_000037.4(ANK1):c.1361A>C (p.Lys454Thr)
|
|
|
NM_000037.4(ANK1):c.1378A>T (p.Lys460Ter)
|
|
|
NM_000037.4(ANK1):c.1383C>T (p.Ala461=)
|
|
|
NM_000037.4(ANK1):c.1404+181G>A
|
rs579414
|
|
NM_000037.4(ANK1):c.1411C>T (p.Gln471Ter)
|
|
|
NM_000037.4(ANK1):c.1412del (p.Gln471fs)
|
rs2150635565
|
|
NM_000037.4(ANK1):c.1438A>G (p.Ile480Val)
|
|
|
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
|
|
|
NM_000037.4(ANK1):c.1549G>T (p.Glu517Ter)
|
rs2150635175
|
|
NM_000037.4(ANK1):c.1592G>T (p.Cys531Phe)
|
rs1462634026
|
|
NM_000037.4(ANK1):c.1602+12C>T
|
|
|
NM_000037.4(ANK1):c.1602+17C>T
|
|
|
NM_000037.4(ANK1):c.1657G>T (p.Glu553Ter)
|
|
|
NM_000037.4(ANK1):c.165del (p.Gly56fs)
|
|
|
NM_000037.4(ANK1):c.1660C>T (p.Leu554=)
|
|
|
NM_000037.4(ANK1):c.1695C>T (p.Ala565=)
|
|
|
NM_000037.4(ANK1):c.1702-191T>A
|
rs74771278
|
|
NM_000037.4(ANK1):c.1801-158GTTT[5]
|
rs111376912
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.1801-18C>A
|
|
|
NM_000037.4(ANK1):c.1801-2A>T
|
rs2150622028
|
|
NM_000037.4(ANK1):c.1825G>A (p.Ala609Thr)
|
|
|
NM_000037.4(ANK1):c.1839C>G (p.Asn613Lys)
|
rs141134967
|
|
NM_000037.4(ANK1):c.1872T>A (p.Tyr624Ter)
|
|
|
NM_000037.4(ANK1):c.1880C>G (p.Ser627Ter)
|
|
|
NM_000037.4(ANK1):c.1888G>A (p.Ala630Thr)
|
|
|
NM_000037.4(ANK1):c.1890C>T (p.Ala630=)
|
|
|
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
|
|
|
NM_000037.4(ANK1):c.1944A>G (p.Ala648=)
|
|
|
NM_000037.4(ANK1):c.1979A>G (p.Asn660Ser)
|
|
|
NM_000037.4(ANK1):c.1998+18G>A
|
|
|
NM_000037.4(ANK1):c.1998+20A>T
|
|
|
NM_000037.4(ANK1):c.1998G>A (p.Lys666=)
|
rs2150621572
|
|
NM_000037.4(ANK1):c.1998G>T (p.Lys666Asn)
|
rs2150621572
|
|
NM_000037.4(ANK1):c.1999-18A>G
|
rs2150616583
|
|
NM_000037.4(ANK1):c.2014del (p.Leu672fs)
|
rs2150616471
|
|
NM_000037.4(ANK1):c.202G>T (p.Glu68Ter)
|
|
|
NM_000037.4(ANK1):c.2085C>T (p.Asp695=)
|
|
|
NM_000037.4(ANK1):c.2095C>T (p.Arg699Trp)
|
|
|
NM_000037.4(ANK1):c.2098-1G>A
|
|
|
NM_000037.4(ANK1):c.2098-5T>C
|
rs2150613009
|
|
NM_000037.4(ANK1):c.2152A>T (p.Lys718Ter)
|
|
|
NM_000037.4(ANK1):c.2196+12C>A
|
|
|
NM_000037.4(ANK1):c.2199del (p.Gly734fs)
|
|
|
NM_000037.4(ANK1):c.219G>A (p.Thr73=)
|
rs925701582
|
|
NM_000037.4(ANK1):c.2202A>G (p.Gly734=)
|
|
|
NM_000037.4(ANK1):c.2220G>C (p.Gln740His)
|
|
|
NM_000037.4(ANK1):c.2221del (p.Ala741fs)
|
|
|
NM_000037.4(ANK1):c.2226C>G (p.Ala742=)
|
|
|
NM_000037.4(ANK1):c.224C>T (p.Thr75Ile)
|
rs2150672986
|
|
NM_000037.4(ANK1):c.2267del (p.Asn756fs)
|
|
|
NM_000037.4(ANK1):c.2296-18G>T
|
|
|
NM_000037.4(ANK1):c.2390_2393del
|
|
|
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs)
|
rs2150605978
|
|
NM_000037.4(ANK1):c.2407C>T (p.Arg803Ter)
|
|
|
NM_000037.4(ANK1):c.2461+799A>C
|
rs28537406
|
|
NM_000037.4(ANK1):c.2520G>A (p.Glu840=)
|
rs1182546869
|
|
NM_000037.4(ANK1):c.2539G>T (p.Val847Leu)
|
|
|
NM_000037.4(ANK1):c.2544_2548dup (p.Leu850fs)
|
rs1822063314
|
|
NM_000037.4(ANK1):c.2551G>T (p.Asp851Tyr)
|
|
|
NM_000037.4(ANK1):c.2558+15C>T
|
|
|
NM_000037.4(ANK1):c.2559-1G>A
|
|
|
NM_000037.4(ANK1):c.2590T>C (p.Cys864Arg)
|
|
|
NM_000037.4(ANK1):c.2688C>G (p.Thr896=)
|
rs377333429
|
|
NM_000037.4(ANK1):c.2691G>A (p.Glu897=)
|
|
|
NM_000037.4(ANK1):c.2736-1G>A
|
rs886042022
|
|
NM_000037.4(ANK1):c.2754G>A (p.Met918Ile)
|
|
|
NM_000037.4(ANK1):c.2799C>A (p.Gly933=)
|
rs752186182
|
|
NM_000037.4(ANK1):c.28-17G>A
|
|
|
NM_000037.4(ANK1):c.28-2A>G
|
|
|
NM_000037.4(ANK1):c.2803C>T (p.Arg935Ter)
|
rs2150597061
|
|
NM_000037.4(ANK1):c.2821C>T (p.Arg941Trp)
|
|
|
NM_000037.4(ANK1):c.2855G>A (p.Arg952His)
|
|
|
NM_000037.4(ANK1):c.2883G>A (p.Thr961=)
|
|
|
NM_000037.4(ANK1):c.2885C>T (p.Pro962Leu)
|
|
|
NM_000037.4(ANK1):c.2898C>T (p.Ala966=)
|
|
|
NM_000037.4(ANK1):c.2912T>A (p.Leu971Gln)
|
|
|
NM_000037.4(ANK1):c.2913G>C (p.Leu971=)
|
rs504574
|
|
NM_000037.4(ANK1):c.2915C>A (p.Ala972Asp)
|
|
|
NM_000037.4(ANK1):c.2947del (p.Ala983fs)
|
rs2150596718
|
|
NM_000037.4(ANK1):c.2960+1G>A
|
rs2150596703
|
|
NM_000037.4(ANK1):c.2961-1G>A
|
rs2150594688
|
|
NM_000037.4(ANK1):c.2961-2A>G
|
rs2150594692
|
|
NM_000037.4(ANK1):c.2961-8T>C
|
|
|
NM_000037.4(ANK1):c.2979C>G (p.Ile993Met)
|
|
|
NM_000037.4(ANK1):c.3016_3022dup (p.Val1008fs)
|
rs2150594539
|
|
NM_000037.4(ANK1):c.3037_3038del (p.Asn1013fs)
|
|
|
NM_000037.4(ANK1):c.303A>T (p.Gly101=)
|
rs1586511504
|
|
NM_000037.4(ANK1):c.3046G>A (p.Val1016Met)
|
|
|
NM_000037.4(ANK1):c.3081C>G (p.Ser1027Arg)
|
|
|
NM_000037.4(ANK1):c.30C>A (p.Ala10=)
|
rs763817982
|
|
NM_000037.4(ANK1):c.3106dup (p.Met1036fs)
|
|
|
NM_000037.4(ANK1):c.3115+9G>A
|
rs150850103
|
|
NM_000037.4(ANK1):c.3115+9G>C
|
rs150850103
|
|
NM_000037.4(ANK1):c.3116-9T>A
|
rs775620184
|
|
NM_000037.4(ANK1):c.312del (p.Asn105fs)
|
|
|
NM_000037.4(ANK1):c.3157C>T (p.Arg1053Ter)
|
rs2150593517
|
|
NM_000037.4(ANK1):c.3179C>T (p.Pro1060Leu)
|
rs267601925
|
|
NM_000037.4(ANK1):c.3186C>G (p.Tyr1062Ter)
|
rs1247598917
|
|
NM_000037.4(ANK1):c.3188del (p.Phe1063fs)
|
rs2150593448
|
|
NM_000037.4(ANK1):c.318C>T (p.Ala106=)
|
|
|
NM_000037.4(ANK1):c.3205C>T (p.Leu1069Phe)
|
|
|
NM_000037.4(ANK1):c.3228C>T (p.Ile1076=)
|
|
|
NM_000037.4(ANK1):c.3235G>T (p.Glu1079Ter)
|
rs368279119
|
|
NM_000037.4(ANK1):c.327+10C>T
|
rs1586510952
|
|
NM_000037.4(ANK1):c.328-2A>G
|
rs1064795837
|
|
NM_000037.4(ANK1):c.3323T>G (p.Leu1108Arg)
|
rs2150593172
|
|
NM_000037.4(ANK1):c.3327+19G>T
|
rs200871595
|
|
NM_000037.4(ANK1):c.3328-13T>A
|
rs2150592375
|
|
NM_000037.4(ANK1):c.3342G>A (p.Pro1114=)
|
rs374102892
|
|
NM_000037.4(ANK1):c.3386G>T (p.Ser1129Ile)
|
rs2150592257
|
|
NM_000037.4(ANK1):c.3395T>A (p.Val1132Asp)
|
|
|
NM_000037.4(ANK1):c.3408_3427del (p.Arg1137fs)
|
rs1554544862
|
|
NM_000037.4(ANK1):c.3468C>T (p.Thr1156=)
|
rs372816206
|
|
NM_000037.4(ANK1):c.3487G>A (p.Gly1163Arg)
|
|
|
NM_000037.4(ANK1):c.349A>G (p.Met117Val)
|
rs2150661861
|
|
NM_000037.4(ANK1):c.3532+10G>A
|
|
|
NM_000037.4(ANK1):c.3532+20C>T
|
|
|
NM_000037.4(ANK1):c.353C>A (p.Ala118Glu)
|
|
|
NM_000037.4(ANK1):c.358C>T (p.Gln120Ter)
|
rs2150661848
|
|
NM_000037.4(ANK1):c.3600C>T (p.Cys1200=)
|
|
|
NM_000037.4(ANK1):c.3615C>T (p.Thr1205=)
|
rs1586144324
|
|
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs)
|
rs1586144223
|
|
NM_000037.4(ANK1):c.3629+4A>T
|
|
|
NM_000037.4(ANK1):c.3629G>A (p.Arg1210Lys)
|
|
|
NM_000037.4(ANK1):c.3630-73del
|
rs113547907
|
|
NM_000037.4(ANK1):c.3656del (p.Thr1219fs)
|
|
|
NM_000037.4(ANK1):c.3679A>T (p.Thr1227Ser)
|
|
|
NM_000037.4(ANK1):c.368A>C (p.His123Pro)
|
|
|
NM_000037.4(ANK1):c.371T>A (p.Leu124Ter)
|
|
|
NM_000037.4(ANK1):c.3750C>T (p.Asp1250=)
|
rs1273182651
|
|
NM_000037.4(ANK1):c.3754C>T (p.Arg1252Ter)
|
|
|
NM_000037.4(ANK1):c.3762G>A (p.Gly1254=)
|
|
|
NM_000037.4(ANK1):c.3802A>T (p.Lys1268Ter)
|
rs1554543126
|
|
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met)
|
rs148942046
|
|
NM_000037.4(ANK1):c.3829G>C (p.Val1277Leu)
|
|
|
NM_000037.4(ANK1):c.3858+1G>A
|
|
|
NM_000037.4(ANK1):c.3858+6A>C
|
|
|
NM_000037.4(ANK1):c.3858G>T (p.Glu1286Asp)
|
rs2150589462
|
|
NM_000037.4(ANK1):c.389del (p.Leu130fs)
|
|
|
NM_000037.4(ANK1):c.390dup (p.Leu131fs)
|
|
|
NM_000037.4(ANK1):c.391C>T (p.Leu131=)
|
|
|
NM_000037.4(ANK1):c.3925C>T (p.Gln1309Ter)
|
|
|
NM_000037.4(ANK1):c.3946C>T (p.Gln1316Ter)
|
|
|
NM_000037.4(ANK1):c.3983del (p.Lys1328fs)
|
|
|
NM_000037.4(ANK1):c.3984+1G>T
|
|
|
NM_000037.4(ANK1):c.3984+2T>C
|
rs1818974494
|
|
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)
|
rs1172677213
|
|
NM_000037.4(ANK1):c.4007C>T (p.Pro1336Leu)
|
|
|
NM_000037.4(ANK1):c.4056C>T (p.Thr1352=)
|
|
|
NM_000037.4(ANK1):c.4080C>T (p.Asn1360=)
|
|
|
NM_000037.4(ANK1):c.4098C>T (p.Cys1366=)
|
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000037.4(ANK1):c.40del (p.Thr14fs)
|
|
|
NM_000037.4(ANK1):c.4104+18G>A
|
|
|
NM_000037.4(ANK1):c.4104+62A>G
|
rs7835812
|
|
NM_000037.4(ANK1):c.4105-1G>A
|
|
|
NM_000037.4(ANK1):c.4129del (p.Arg1377fs)
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NM_000037.4(ANK1):c.4160G>A (p.Ser1387Asn)
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NM_000037.4(ANK1):c.41C>G (p.Thr14Ser)
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NM_000037.4(ANK1):c.4259-1G>T
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NM_000037.4(ANK1):c.4262T>A (p.Leu1421Ter)
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NM_000037.4(ANK1):c.4336C>T (p.Gln1446Ter)
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NM_000037.4(ANK1):c.4376del (p.Gly1459fs)
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NM_000037.4(ANK1):c.4384G>A (p.Ala1462Thr)
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NM_000037.4(ANK1):c.4390+1G>A
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rs2150580336
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NM_000037.4(ANK1):c.4390+1G>C
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NM_000037.4(ANK1):c.44G>C (p.Ser15Thr)
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NM_000037.4(ANK1):c.4538-52G>C
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rs499295
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NM_000037.4(ANK1):c.4558G>C (p.Glu1520Gln)
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NM_000037.4(ANK1):c.4585_4588dup (p.Ala1530fs)
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NM_000037.4(ANK1):c.4601C>T (p.Pro1534Leu)
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NM_000037.4(ANK1):c.4664C>T (p.Thr1555Met)
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NM_000037.4(ANK1):c.4680G>A (p.Met1560Ile)
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NM_000037.4(ANK1):c.4694del (p.Asp1565fs)
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rs2150563288
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NM_000037.4(ANK1):c.4744del (p.Asp1582fs)
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NM_000037.4(ANK1):c.4747del (p.Ser1583fs)
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NM_000037.4(ANK1):c.4792_4798del (p.His1598fs)
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NM_000037.4(ANK1):c.4800G>A (p.Trp1600Ter)
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NM_000037.4(ANK1):c.4813del (p.Ala1605fs)
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rs2150563125
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NM_000037.4(ANK1):c.4820C>G (p.Ser1607Ter)
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NM_000037.4(ANK1):c.4840G>T (p.Glu1614Ter)
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NM_000037.4(ANK1):c.4883C>T (p.Ser1628Leu)
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NM_000037.4(ANK1):c.4961A>G (p.Lys1654Arg)
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rs866562435
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NM_000037.4(ANK1):c.4974C>T (p.Asp1658=)
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rs149859024
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NM_000037.4(ANK1):c.4977del (p.Thr1660fs)
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NM_000037.4(ANK1):c.5080G>A (p.Glu1694Lys)
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rs1812685689
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NM_000037.4(ANK1):c.5096G>A (p.Arg1699Lys)
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NM_000037.4(ANK1):c.5097-9G>A
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NM_000037.4(ANK1):c.5135A>T (p.Tyr1712Phe)
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NM_000037.4(ANK1):c.5145T>C (p.Asp1715=)
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rs1563357304
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NM_000037.4(ANK1):c.5167G>A (p.Glu1723Lys)
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NM_000037.4(ANK1):c.5167G>T (p.Glu1723Ter)
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NM_000037.4(ANK1):c.5197C>T (p.Gln1733Ter)
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NM_000037.4(ANK1):c.5218G>T (p.Glu1740Ter)
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NM_000037.4(ANK1):c.5260del (p.Leu1754fs)
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rs1811228521
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NM_000037.4(ANK1):c.5285G>A (p.Trp1762Ter)
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NM_000037.4(ANK1):c.5298C>T (p.Pro1766=)
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NM_000037.4(ANK1):c.5299G>A (p.Glu1767Lys)
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NM_000037.4(ANK1):c.5317G>A (p.Ala1773Thr)
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NM_000037.4(ANK1):c.5344C>T (p.Gln1782Ter)
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rs2150556374
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NM_000037.4(ANK1):c.5363A>C (p.Glu1788Ala)
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NM_000037.4(ANK1):c.5395-1209G>A
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NM_000037.4(ANK1):c.5395-1222C>T
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NM_000037.4(ANK1):c.5395-1238T>G
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rs1585851432
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NM_000037.4(ANK1):c.5395-1731T>C
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rs508419
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NM_000037.4(ANK1):c.5395-209G>C
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rs474059
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NM_000037.4(ANK1):c.5395G>A (p.Gly1799Arg)
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rs2150548168
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NM_000037.4(ANK1):c.5401G>T (p.Glu1801Ter)
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NM_000037.4(ANK1):c.5422del (p.Glu1808fs)
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NM_000037.4(ANK1):c.5458G>A (p.Gly1820Ser)
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NM_000037.4(ANK1):c.5479-326dup
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rs11411870
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NM_000037.4(ANK1):c.5485C>T (p.Arg1829Cys)
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rs751690725
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NM_000037.4(ANK1):c.5504_5507del (p.Ile1835fs)
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NM_000037.4(ANK1):c.5526C>T (p.Ala1842=)
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NM_000037.4(ANK1):c.5544+11del
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NM_000037.4(ANK1):c.5544+15G>T
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NM_000037.4(ANK1):c.5603A>G (p.Gln1868Arg)
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NM_000037.4(ANK1):c.614C>T (p.Thr205Met)
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NM_000037.4(ANK1):c.629del (p.Leu210fs)
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NM_000037.4(ANK1):c.66A>G (p.Ser22=)
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NM_000037.4(ANK1):c.682A>T (p.Arg228Ter)
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NM_000037.4(ANK1):c.682del (p.Arg228fs)
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NM_000037.4(ANK1):c.694G>T (p.Val232Phe)
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NM_000037.4(ANK1):c.712-2A>G
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NM_000037.4(ANK1):c.721A>G (p.Thr241Ala)
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NM_000037.4(ANK1):c.72C>G (p.Asn24Lys)
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NM_000037.4(ANK1):c.769CTG[2] (p.Leu259del)
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NM_000037.4(ANK1):c.7T>C (p.Tyr3His)
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NM_000037.4(ANK1):c.810+5G>A
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NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)
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NM_000037.4(ANK1):c.841C>T (p.Arg281Ter)
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rs1829712320
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NM_000037.4(ANK1):c.856C>T (p.Arg286Ter)
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rs2150651762
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NM_000037.4(ANK1):c.893_897del (p.Ile298fs)
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NM_000037.4(ANK1):c.911_912del (p.Asn304fs)
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rs2150644706
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NM_000037.4(ANK1):c.925A>G (p.Ile309Val)
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NM_000037.4(ANK1):c.965G>A (p.Arg322Gln)
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NM_000037.4(ANK1):c.965G>T (p.Arg322Leu)
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rs183864227
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NM_000037.4(ANK1):c.98G>A (p.Arg33Gln)
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NM_000037.4(ANK1):c.991A>T (p.Ile331Leu)
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NM_001142446.2(ANK1):c.-207C>G
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rs77646170
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