NM_001165963.4(SCN1A):c.3551-192T>C
|
rs568376
|
0.99676
|
NM_001165963.4(SCN1A):c.*721A>G
|
rs4667859
|
0.99675
|
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_001165963.4(SCN1A):c.*1739C>T
|
rs1813502
|
0.70050
|
NM_001165963.4(SCN1A):c.3429+110T>A
|
rs114707732
|
0.69761
|
NM_001165963.4(SCN1A):c.3550+212G>T
|
rs577306
|
0.26364
|
NM_001165963.4(SCN1A):c.3429+212T>C
|
rs11691603
|
0.26022
|
NM_001165963.4(SCN1A):c.4853-223dup
|
rs34871628
|
0.24515
|
NM_001165963.4(SCN1A):c.3551-246C>G
|
rs10207252
|
0.15493
|
NM_001165963.4(SCN1A):c.*1961C>T
|
rs7577411
|
0.08473
|
NM_001165963.4(SCN1A):c.4853-142A>T
|
rs6754638
|
0.08458
|
NM_001165963.4(SCN1A):c.4477-338T>A
|
rs17791817
|
0.06433
|
NM_001165963.4(SCN1A):c.4853-271T>C
|
rs16851338
|
0.06306
|
NM_001165963.4(SCN1A):c.3429+108T>A
|
rs538930553
|
0.04901
|
NM_001165963.4(SCN1A):c.4284+179A>T
|
rs72871938
|
0.04355
|
NM_001165963.4(SCN1A):c.*1693A>G
|
rs7591522
|
0.03977
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_001165963.4(SCN1A):c.*172dup
|
rs113696479
|
0.03631
|
NM_001165963.4(SCN1A):c.4003-69T>C
|
rs1350798
|
0.03624
|
NM_001165963.4(SCN1A):c.4582-254G>A
|
rs919198
|
0.02168
|
NM_001165963.4(SCN1A):c.4338+74C>T
|
rs4305294
|
0.02157
|
NM_001165963.4(SCN1A):c.4339-96dup
|
rs142978131
|
0.01816
|
NM_001165963.4(SCN1A):c.3429+216C>G
|
rs74440143
|
0.01668
|
NM_001165963.4(SCN1A):c.3429+109T>A
|
rs200404199
|
0.01392
|
NM_001165963.4(SCN1A):c.3705+55C>G
|
rs76220226
|
0.01372
|
NM_001165963.4(SCN1A):c.4284+271T>A
|
rs149674261
|
0.01336
|
NM_001165963.4(SCN1A):c.*1653C>T
|
rs79971813
|
0.01291
|
NM_001165963.4(SCN1A):c.3706-146C>G
|
rs115294408
|
0.01136
|
NM_001165963.4(SCN1A):c.4853-222A>T
|
rs56079318
|
0.01100
|
NM_001165963.4(SCN1A):c.4476+33G>A
|
rs73969742
|
0.01061
|
NM_001165963.4(SCN1A):c.3705+33T>G
|
rs76743139
|
0.00915
|
NM_001165963.4(SCN1A):c.3551-67G>A
|
rs114396026
|
0.00881
|
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)
|
rs35735053
|
0.00876
|
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)
|
rs140237315
|
0.00855
|
NM_001165963.4(SCN1A):c.3705+166del
|
rs139618094
|
0.00770
|
NM_001165963.4(SCN1A):c.4581+124C>G
|
rs13398882
|
0.00690
|
NM_001165963.4(SCN1A):c.*1952T>C
|
rs184794128
|
0.00627
|
NM_001165963.4(SCN1A):c.4476+202T>A
|
rs149570962
|
0.00627
|
NM_001165963.4(SCN1A):c.4476+316C>T
|
rs184022580
|
0.00625
|
NM_001165963.4(SCN1A):c.4477-37A>G
|
rs182207375
|
0.00616
|
NM_001165963.4(SCN1A):c.*1750T>C
|
rs181548655
|
0.00414
|
NM_001165963.4(SCN1A):c.4002+2422A>G
|
rs185755900
|
0.00310
|
NM_001165963.4(SCN1A):c.3550+11G>T
|
rs202142409
|
0.00194
|
NM_001165963.4(SCN1A):c.3705+12T>G
|
rs147032678
|
0.00181
|
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)
|
rs78041051
|
0.00175
|
NM_001165963.4(SCN1A):c.4582-27G>A
|
rs113927395
|
0.00160
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)
|
rs143980709
|
0.00159
|
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)
|
rs138231868
|
0.00121
|
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)
|
rs145296488
|
0.00114
|
NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr)
|
rs121918818
|
0.00084
|
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=)
|
rs142019382
|
0.00078
|
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)
|
rs149579028
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)
|
rs142910512
|
0.00048
|
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)
|
rs148546224
|
0.00047
|
NM_001165963.4(SCN1A):c.*20A>G
|
rs565537621
|
0.00041
|
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)
|
rs150570058
|
0.00040
|
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile)
|
rs144691638
|
0.00038
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val)
|
rs762317674
|
0.00016
|
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=)
|
rs376579606
|
0.00015
|
NM_001165963.4(SCN1A):c.3550+34T>G
|
rs367591519
|
0.00014
|
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=)
|
rs145410000
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=)
|
rs199727342
|
0.00010
|
NM_001165963.4(SCN1A):c.3706-20G>A
|
rs187973818
|
0.00008
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=)
|
rs368785509
|
0.00008
|
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=)
|
rs587780445
|
0.00008
|
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=)
|
rs758014915
|
0.00007
|
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)
|
rs201079458
|
0.00006
|
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=)
|
rs369688121
|
0.00006
|
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)
|
rs143088184
|
0.00006
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp)
|
rs746016312
|
0.00005
|
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=)
|
rs587781145
|
0.00005
|
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)
|
rs774858072
|
0.00005
|
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=)
|
rs138181528
|
0.00004
|
NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=)
|
rs760181074
|
0.00004
|
NM_001165963.4(SCN1A):c.4003-15C>T
|
rs1057521559
|
0.00004
|
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=)
|
rs376118833
|
0.00004
|
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)
|
rs768638174
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=)
|
rs141051370
|
0.00004
|
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=)
|
rs754371368
|
0.00004
|
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=)
|
rs375953445
|
0.00003
|
NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr)
|
rs749638533
|
0.00003
|
NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys)
|
rs775820803
|
0.00003
|
NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=)
|
rs1176622466
|
0.00003
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
NM_001165963.4(SCN1A):c.4582-12A>G
|
rs752455718
|
0.00003
|
NM_001165963.4(SCN1A):c.4582-3C>T
|
rs747649993
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=)
|
rs767698089
|
0.00003
|
NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met)
|
rs756845310
|
0.00003
|
NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn)
|
rs371243629
|
0.00003
|
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)
|
rs751514645
|
0.00002
|
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=)
|
rs895560193
|
0.00002
|
NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=)
|
rs727504137
|
0.00002
|
NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=)
|
rs376901032
|
0.00002
|
NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln)
|
rs566081370
|
0.00002
|
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)
|
rs375896308
|
0.00002
|
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)
|
rs1260685558
|
0.00002
|
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=)
|
rs372749240
|
0.00002
|
NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile)
|
rs121918805
|
0.00002
|
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile)
|
rs756238700
|
0.00002
|
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=)
|
rs369650500
|
0.00002
|
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile)
|
rs1205848223
|
0.00002
|
NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu)
|
rs1358776988
|
0.00002
|
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)
|
rs376656165
|
0.00002
|
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)
|
rs796052992
|
0.00001
|
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu)
|
rs376649518
|
0.00001
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
NM_001165963.4(SCN1A):c.3233A>C (p.Asp1078Ala)
|
rs758221668
|
0.00001
|
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=)
|
rs961517010
|
0.00001
|
NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr)
|
rs753452775
|
0.00001
|
NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile)
|
rs774410570
|
0.00001
|
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu)
|
rs746718015
|
0.00001
|
NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn)
|
rs1213569051
|
0.00001
|
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr)
|
rs763254451
|
0.00001
|
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=)
|
rs761878186
|
0.00001
|
NM_001165963.4(SCN1A):c.3500C>T (p.Pro1167Leu)
|
rs1693179742
|
0.00001
|
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=)
|
rs1057524122
|
0.00001
|
NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu)
|
rs780607306
|
0.00001
|
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=)
|
rs750943685
|
0.00001
|
NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=)
|
rs150638891
|
0.00001
|
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=)
|
rs377326177
|
0.00001
|
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr)
|
rs776629634
|
0.00001
|
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His)
|
rs922514173
|
0.00001
|
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=)
|
rs200745708
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=)
|
rs998325208
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)
|
rs1295072436
|
0.00001
|
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met)
|
rs1691042935
|
0.00001
|
NM_001165963.4(SCN1A):c.4284+19C>A
|
rs1383995139
|
0.00001
|
NM_001165963.4(SCN1A):c.4338+12T>C
|
rs761062999
|
0.00001
|
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=)
|
rs587781146
|
0.00001
|
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=)
|
rs778620898
|
0.00001
|
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)
|
rs1559114408
|
0.00001
|
NM_001165963.4(SCN1A):c.4581+12C>T
|
rs886055042
|
0.00001
|
NM_001165963.4(SCN1A):c.4581A>G (p.Gly1527=)
|
rs1470930262
|
0.00001
|
NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu)
|
rs1689724218
|
0.00001
|
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)
|
rs121917992
|
0.00001
|
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe)
|
rs377325221
|
0.00001
|
NM_001165963.4(SCN1A):c.4853-3dup
|
rs1553520532
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=)
|
rs770111331
|
0.00001
|
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=)
|
rs140664455
|
0.00001
|
NM_001165963.4(SCN1A):c.5275C>T (p.Pro1759Ser)
|
rs1064794630
|
0.00001
|
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)
|
rs796053037
|
0.00001
|
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)
|
rs121918763
|
0.00001
|
NM_001165963.4(SCN1A):c.5421G>A (p.Met1807Ile)
|
rs1689220137
|
0.00001
|
NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=)
|
rs765676433
|
0.00001
|
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn)
|
rs747251662
|
0.00001
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)
|
rs796053043
|
0.00001
|
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=)
|
rs779614747
|
0.00001
|
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln)
|
rs373896263
|
0.00001
|
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=)
|
rs587781149
|
0.00001
|
NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His)
|
rs3749029
|
0.00001
|
NM_001165963.4(SCN1A):c.5852C>T (p.Ala1951Val)
|
rs1057524816
|
0.00001
|
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)
|
rs771936735
|
0.00001
|
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)
|
rs769477807
|
0.00001
|
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)
|
rs751750112
|
0.00001
|
NM_001165963.4(SCN1A):c.3092A>G (p.Tyr1031Cys)
|
rs2105796301
|
|
NM_001165963.4(SCN1A):c.3093T>A (p.Tyr1031Ter)
|
rs1553540382
|
|
NM_001165963.4(SCN1A):c.3105A>G (p.Gln1035=)
|
rs144013543
|
|
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
|
rs542420576
|
|
NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys)
|
rs1265022938
|
|
NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=)
|
rs1204620691
|
|
NM_001165963.4(SCN1A):c.3128A>T (p.Lys1043Met)
|
rs1553540334
|
|
NM_001165963.4(SCN1A):c.3165CAA[1] (p.Asn1056del)
|
rs796053069
|
|
NM_001165963.4(SCN1A):c.3166A>C (p.Asn1056His)
|
rs746016312
|
|
NM_001165963.4(SCN1A):c.3172A>G (p.Lys1058Glu)
|
|
|
NM_001165963.4(SCN1A):c.3188C>T (p.Ser1063Phe)
|
rs2105795201
|
|
NM_001165963.4(SCN1A):c.3195_3196del (p.Thr1066fs)
|
rs1553540282
|
|
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
|
|
|
NM_001165963.4(SCN1A):c.3249A>C (p.Thr1083=)
|
rs1042252202
|
|
NM_001165963.4(SCN1A):c.3266G>A (p.Gly1089Asp)
|
rs2105794575
|
|
NM_001165963.4(SCN1A):c.3268dup (p.Ser1090fs)
|
rs796053070
|
|
NM_001165963.4(SCN1A):c.3278A>G (p.Glu1093Gly)
|
|
|
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs)
|
rs1696338792
|
|
NM_001165963.4(SCN1A):c.3295G>T (p.Glu1099Ter)
|
rs1553540207
|
|
NM_001165963.4(SCN1A):c.3361G>T (p.Glu1121Ter)
|
rs796052993
|
|
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer)
|
rs1131691693
|
|
NM_001165963.4(SCN1A):c.3372T>A (p.Phe1124Leu)
|
|
|
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs)
|
rs1064796177
|
|
NM_001165963.4(SCN1A):c.3379T>G (p.Leu1127Val)
|
rs1481310706
|
|
NM_001165963.4(SCN1A):c.3398G>T (p.Ser1133Ile)
|
rs2105793124
|
|
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)
|
rs796052954
|
|
NM_001165963.4(SCN1A):c.3409del (p.Asp1137fs)
|
rs796053071
|
|
NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs)
|
rs886039529
|
|
NM_001165963.4(SCN1A):c.3429+109_3429+113del
|
rs34673057
|
|
NM_001165963.4(SCN1A):c.3429+111_3429+113del
|
rs34673057
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3429G>C (p.Glu1143Asp)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3430-7C>A
|
rs975085305
|
|
NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs)
|
rs1064794495
|
|
NM_001165963.4(SCN1A):c.3457G>A (p.Glu1153Lys)
|
rs1553534233
|
|
NM_001165963.4(SCN1A):c.3457G>T (p.Glu1153Ter)
|
rs1553534233
|
|
NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=)
|
rs369594817
|
|
NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=)
|
rs369594817
|
|
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys)
|
rs1553534085
|
|
NM_001165963.4(SCN1A):c.3542T>C (p.Phe1181Ser)
|
rs2105628529
|
|
NM_001165963.4(SCN1A):c.3551-12_3551-11delinsGC
|
rs2105612181
|
|
NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg)
|
rs1553532782
|
|
NM_001165963.4(SCN1A):c.3553del (p.Cys1185fs)
|
rs796053068
|
|
NM_001165963.4(SCN1A):c.3556G>A (p.Val1186Ile)
|
|
|
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)
|
rs796052995
|
|
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys)
|
rs762734890
|
|
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys)
|
rs1559149025
|
|
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)
|
rs1574060743
|
|
NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3650A>G (p.His1217Arg)
|
rs796052996
|
|
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)
|
rs796052997
|
|
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
|
|
|
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)
|
rs1553532470
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
NM_001165963.4(SCN1A):c.3705+17A>G
|
rs1553532428
|
|
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser)
|
rs1553531410
|
|
NM_001165963.4(SCN1A):c.3715G>C (p.Asp1239His)
|
rs2105594076
|
|
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs)
|
rs796053072
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3740C>T (p.Thr1247Met)
|
|
|
NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=)
|
rs771494149
|
|
NM_001165963.4(SCN1A):c.3772G>A (p.Val1258Ile)
|
rs796052998
|
|
NM_001165963.4(SCN1A):c.3776dup (p.Thr1260fs)
|
rs796053073
|
|
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)
|
rs1064795355
|
|
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
|
rs794726841
|
|
NM_001165963.4(SCN1A):c.3820T>A (p.Tyr1274Asn)
|
rs2105592343
|
|
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp)
|
rs796053000
|
|
NM_001165963.4(SCN1A):c.3835del (p.Tyr1279fs)
|
rs1574051206
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter)
|
rs1553531178
|
|
NM_001165963.4(SCN1A):c.3853dup (p.Cys1285fs)
|
rs796053074
|
|
NM_001165963.4(SCN1A):c.3857G>A (p.Trp1286Ter)
|
rs886039705
|
|
NM_001165963.4(SCN1A):c.3862G>C (p.Asp1288His)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3877del (p.Asp1293fs)
|
rs886041562
|
|
NM_001165963.4(SCN1A):c.3879+5G>A
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3880-305del
|
rs146427393
|
|
NM_001165963.4(SCN1A):c.3880-338T>C
|
rs72871943
|
|
NM_001165963.4(SCN1A):c.3898del (p.Thr1300fs)
|
rs1057518229
|
|
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal)
|
rs1064795733
|
|
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val)
|
rs2105570494
|
|
NM_001165963.4(SCN1A):c.3938A>C (p.Lys1313Thr)
|
rs1064795239
|
|
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del)
|
rs1553529461
|
|
NM_001165963.4(SCN1A):c.3953_3956del (p.Leu1318fs)
|
rs1064796964
|
|
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr)
|
rs2105569996
|
|
NM_001165963.4(SCN1A):c.3966_3976del (p.Arg1322fs)
|
rs796053107
|
|
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4002+2454G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2651dup
|
rs560882795
|
|
NM_001165963.4(SCN1A):c.4003-168dup
|
rs139683811
|
|
NM_001165963.4(SCN1A):c.4003-320_4003-319insAAAC
|
rs10654011
|
|
NM_001165963.4(SCN1A):c.4003-8T>C
|
rs1553525411
|
|
NM_001165963.4(SCN1A):c.4003-8T>G
|
|
|
NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile)
|
rs796053005
|
|
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4018C>G (p.Leu1340Val)
|
rs2105510551
|
|
NM_001165963.4(SCN1A):c.4027G>C (p.Ala1343Pro)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile)
|
rs794726822
|
|
NM_001165963.4(SCN1A):c.4060T>C (p.Cys1354Arg)
|
rs1131691461
|
|
NM_001165963.4(SCN1A):c.4061G>C (p.Cys1354Ser)
|
rs1057521537
|
|
NM_001165963.4(SCN1A):c.4074G>T (p.Trp1358Cys)
|
rs1553525267
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4107T>G (p.Phe1369Leu)
|
rs2105509616
|
|
NM_001165963.4(SCN1A):c.4111G>C (p.Gly1371Arg)
|
rs1064795303
|
|
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4141del (p.Thr1381fs)
|
rs1553525146
|
|
NM_001165963.4(SCN1A):c.4151G>A (p.Arg1384Lys)
|
|
|
NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386_Glu1388delinsGluTer)
|
rs886039712
|
|
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val)
|
rs764507532
|
|
NM_001165963.4(SCN1A):c.4160del (p.Ile1387fs)
|
rs1064796714
|
|
NM_001165963.4(SCN1A):c.4166del (p.Asp1389fs)
|
rs796053077
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4172A>G (p.Asn1391Ser)
|
rs1553525062
|
|
NM_001165963.4(SCN1A):c.4192A>T (p.Lys1398Ter)
|
rs1553525023
|
|
NM_001165963.4(SCN1A):c.4216dup (p.Ala1406fs)
|
rs796053078
|
|
NM_001165963.4(SCN1A):c.4217C>A (p.Ala1406Asp)
|
rs2105508284
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4255G>T (p.Gly1419Ter)
|
rs1085307893
|
|
NM_001165963.4(SCN1A):c.4262G>A (p.Gly1421Glu)
|
rs1064795756
|
|
NM_001165963.4(SCN1A):c.4280A>T (p.Gln1427Leu)
|
rs1057518062
|
|
NM_001165963.4(SCN1A):c.4284+2T>C
|
rs398123595
|
|
NM_001165963.4(SCN1A):c.4285-4A>G
|
rs796053007
|
|
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg)
|
rs121917908
|
|
NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu)
|
rs121918741
|
|
NM_001165963.4(SCN1A):c.4304T>A (p.Met1435Lys)
|
rs796053009
|
|
NM_001165963.4(SCN1A):c.4318del (p.Ala1440fs)
|
rs796053079
|
|
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4338+18dup
|
rs1064795145
|
|
NM_001165963.4(SCN1A):c.4338+5G>A
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4339-3T>A
|
rs1467483299
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=)
|
rs1573984787
|
|
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys)
|
rs1131691600
|
|
NM_001165963.4(SCN1A):c.4369C>G (p.Leu1457Val)
|
rs796053013
|
|
NM_001165963.4(SCN1A):c.4412C>A (p.Ser1471Tyr)
|
rs794726809
|
|
NM_001165963.4(SCN1A):c.4433T>G (p.Phe1478Cys)
|
rs2105475961
|
|
NM_001165963.4(SCN1A):c.4436T>C (p.Ile1479Thr)
|
|
|
NM_001165963.4(SCN1A):c.4438G>T (p.Gly1480Cys)
|
rs796053015
|
|
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)
|
rs1085307484
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476+1A>T
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476+6T>C
|
rs1057523807
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-11C>A
|
rs775315152
|
|
NM_001165963.4(SCN1A):c.4493T>A (p.Ile1498Asn)
|
rs796053017
|
|
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr)
|
rs745687892
|
|
NM_001165963.4(SCN1A):c.4504G>T (p.Glu1502Ter)
|
rs1553521538
|
|
NM_001165963.4(SCN1A):c.4506A>G (p.Glu1502=)
|
rs587781147
|
|
NM_001165963.4(SCN1A):c.4511A>T (p.Gln1504Leu)
|
rs796053018
|
|
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys)
|
rs2105462218
|
|
NM_001165963.4(SCN1A):c.4532T>G (p.Met1511Arg)
|
rs1553521507
|
|
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg)
|
rs796053020
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs)
|
rs796053081
|
|
NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter)
|
rs794726835
|
|
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg)
|
rs2105461833
|
|
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=)
|
rs374087499
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4562del (p.Lys1521fs)
|
rs1064796343
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)
|
rs796053022
|
|
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu)
|
rs751929295
|
|
NM_001165963.4(SCN1A):c.4581+173_4581+176del
|
rs138116101
|
|
NM_001165963.4(SCN1A):c.4581+2T>A
|
rs886039457
|
|
NM_001165963.4(SCN1A):c.4581+2T>C
|
rs886039457
|
|
NM_001165963.4(SCN1A):c.4582-110C>T
|
rs75721122
|
|
NM_001165963.4(SCN1A):c.4582-262GTTT[5]
|
rs140431192
|
|
NM_001165963.4(SCN1A):c.4582-262GTTT[6]
|
rs140431192
|
|
NM_001165963.4(SCN1A):c.4582-262GTTT[8]
|
rs140431192
|
|
NM_001165963.4(SCN1A):c.4582-262GTTT[9]
|
rs140431192
|
|
NM_001165963.4(SCN1A):c.4582-3C>A
|
rs747649993
|
|
NM_001165963.4(SCN1A):c.4582-4A>C
|
rs1057521695
|
|
NM_001165963.4(SCN1A):c.4582-4A>G
|
rs1057521695
|
|
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)
|
rs398123597
|
|
NM_001165963.4(SCN1A):c.4610dup (p.Val1538fs)
|
rs886041982
|
|
NM_001165963.4(SCN1A):c.4630G>C (p.Asp1544His)
|
rs1131691367
|
|
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=)
|
rs1057521371
|
|
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe)
|
rs1553521053
|
|
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
|
|
|
NM_001165963.4(SCN1A):c.4667T>C (p.Val1556Ala)
|
|
|
NM_001165963.4(SCN1A):c.4672A>G (p.Met1558Val)
|
|
|
NM_001165963.4(SCN1A):c.4674G>A (p.Met1558Ile)
|
rs796053023
|
|
NM_001165963.4(SCN1A):c.4681G>T (p.Glu1561Ter)
|
rs796053024
|
|
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys)
|
rs1037225738
|
|
NM_001165963.4(SCN1A):c.4701A>G (p.Glu1567=)
|
rs796053025
|
|
NM_001165963.4(SCN1A):c.4706T>C (p.Val1569Ala)
|
rs2105448762
|
|
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val)
|
rs1689696329
|
|
NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu)
|
rs779090130
|
|
NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg)
|
rs121917919
|
|
NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr)
|
rs1553520982
|
|
NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu)
|
rs796053027
|
|
NM_001165963.4(SCN1A):c.4777_4778del (p.Ile1593fs)
|
rs796053080
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.4794T>G (p.Tyr1598Ter)
|
rs796053026
|
|
NM_001165963.4(SCN1A):c.4810T>C (p.Trp1604Arg)
|
rs1573962964
|
|
NM_001165963.4(SCN1A):c.4821del (p.Phe1607fs)
|
rs796053083
|
|
NM_001165963.4(SCN1A):c.4830_4836delinsAGGTAATGG (p.Val1611fs)
|
rs1573962628
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4870C>T (p.Leu1624=)
|
rs1553520513
|
|
NM_001165963.4(SCN1A):c.4896dup (p.Thr1633fs)
|
rs796053084
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
|
|
|
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)
|
rs796053029
|
|
NM_001165963.4(SCN1A):c.4926G>T (p.Arg1642Ser)
|
rs1131691581
|
|
NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp)
|
rs796053030
|
|
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter)
|
rs794726759
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys)
|
rs121918791
|
|
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu)
|
rs121918622
|
|
NM_001165963.4(SCN1A):c.4954G>T (p.Gly1652Ter)
|
rs1553520442
|
|
NM_001165963.4(SCN1A):c.4965del (p.Ile1656fs)
|
rs1573952473
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro)
|
rs1131691675
|
|
NM_001165963.4(SCN1A):c.4980C>T (p.Leu1660=)
|
rs1057521307
|
|
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)
|
rs796053031
|
|
NM_001165963.4(SCN1A):c.4999C>T (p.Leu1667Phe)
|
rs796053032
|
|
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro)
|
rs1131691774
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr)
|
rs2105433516
|
|
NM_001165963.4(SCN1A):c.5018_5019delinsAG (p.Ile1673Lys)
|
rs1553520404
|
|
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5020_5025del (p.Gly1674_Leu1675del)
|
rs797044982
|
|
NM_001165963.4(SCN1A):c.5026C>T (p.Leu1676=)
|
rs1553520391
|
|
NM_001165963.4(SCN1A):c.5044T>C (p.Phe1682Leu)
|
|
|
NM_001165963.4(SCN1A):c.5053G>C (p.Ala1685Pro)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5104G>T (p.Asp1702Tyr)
|
rs748333147
|
|
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5121T>G (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=)
|
rs777044331
|
|
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)
|
rs796053098
|
|
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)
|
rs121917926
|
|
NM_001165963.4(SCN1A):c.5153T>C (p.Phe1718Ser)
|
rs1131691793
|
|
NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys)
|
rs121917978
|
|
NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala)
|
rs1553520321
|
|
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)
|
rs796053099
|
|
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs)
|
rs1553520298
|
|
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)
|
rs796053100
|
|
NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=)
|
rs2105431102
|
|
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu)
|
rs1553520293
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)
|
rs1057518258
|
|
NM_001165963.4(SCN1A):c.5261G>T (p.Gly1754Val)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu)
|
rs1085307930
|
|
NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs)
|
rs796053085
|
|
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala)
|
rs1057518252
|
|
NM_001165963.4(SCN1A):c.5294T>G (p.Phe1765Cys)
|
rs1553520199
|
|
NM_001165963.4(SCN1A):c.5294_5298del (p.Phe1765fs)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5299del (p.Val1767fs)
|
rs1553520197
|
|
NM_001165963.4(SCN1A):c.5303G>A (p.Ser1768Asn)
|
|
|
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys)
|
rs886039460
|
|
NM_001165963.4(SCN1A):c.5326G>A (p.Val1776Ile)
|
rs796053101
|
|
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)
|
rs1689245014
|
|
NM_001165963.4(SCN1A):c.5338A>G (p.Met1780Val)
|
rs1085307945
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val)
|
rs121917921
|
|
NM_001165963.4(SCN1A):c.5356C>T (p.Leu1786=)
|
rs587781148
|
|
NM_001165963.4(SCN1A):c.5361G>T (p.Glu1787Asp)
|
rs796053038
|
|
NM_001165963.4(SCN1A):c.5375C>A (p.Ala1792Asp)
|
rs1085307942
|
|
NM_001165963.4(SCN1A):c.5379T>A (p.Thr1793=)
|
rs1553520152
|
|
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5386del (p.Ser1796fs)
|
rs1553520151
|
|
NM_001165963.4(SCN1A):c.5403_5406del (p.Ser1801fs)
|
rs1085307901
|
|
NM_001165963.4(SCN1A):c.5416G>T (p.Glu1806Ter)
|
rs796053039
|
|
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)
|
rs121918757
|
|
NM_001165963.4(SCN1A):c.5426A>G (p.Tyr1809Cys)
|
rs1260877885
|
|
NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly)
|
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.5435G>A (p.Trp1812Ter)
|
rs796053040
|
|
NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn)
|
|
|
NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs)
|
rs1131691500
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5483T>C (p.Leu1828Ser)
|
rs1131691599
|
|
NM_001165963.4(SCN1A):c.5486del (p.Ser1829fs)
|
rs1064796990
|
|
NM_001165963.4(SCN1A):c.5489_5490insAA (p.Phe1831fs)
|
rs1573945872
|
|
NM_001165963.4(SCN1A):c.5492T>G (p.Phe1831Cys)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5495C>A (p.Ala1832Glu)
|
rs2105427061
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del)
|
rs797044983
|
|
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter)
|
rs1064795579
|
|
NM_001165963.4(SCN1A):c.5525C>T (p.Pro1842Leu)
|
|
|
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu)
|
rs1057517958
|
|
NM_001165963.4(SCN1A):c.5567T>A (p.Met1856Lys)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)
|
rs796053042
|
|
NM_001165963.4(SCN1A):c.5600T>A (p.Ile1867Asn)
|
rs1131691773
|
|
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr)
|
rs1131691773
|
|
NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=)
|
rs1403005079
|
|
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)
|
rs1060502186
|
|
NM_001165963.4(SCN1A):c.5621G>C (p.Arg1874Pro)
|
|
|
NM_001165963.4(SCN1A):c.5623G>T (p.Val1875Phe)
|
rs2105425295
|
|
NM_001165963.4(SCN1A):c.5627T>C (p.Leu1876Pro)
|
rs796053044
|
|
NM_001165963.4(SCN1A):c.5630G>A (p.Gly1877Glu)
|
|
|
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln)
|
rs148703212
|
|
NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn)
|
rs1573944260
|
|
NM_001165963.4(SCN1A):c.5635A>G (p.Ser1879Gly)
|
rs2105425108
|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
NM_001165963.4(SCN1A):c.5665A>C (p.Met1889Leu)
|
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5677T>C (p.Phe1893Leu)
|
rs1085307686
|
|
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)
|
rs562208324
|
|
NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp)
|
rs1039777371
|
|
NM_001165963.4(SCN1A):c.5693C>T (p.Pro1898Leu)
|
rs2105424381
|
|
NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs)
|
rs796053086
|
|
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)
|
rs796053103
|
|
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del)
|
rs1553519902
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)
|
rs77216276
|
|
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=)
|
rs554861427
|
|
NM_001165963.4(SCN1A):c.5743G>A (p.Glu1915Lys)
|
rs796053045
|
|
NM_001165963.4(SCN1A):c.5744_5748del (p.Glu1915fs)
|
rs797044984
|
|
NM_001165963.4(SCN1A):c.5746G>T (p.Glu1916Ter)
|
rs796053046
|
|
NM_001165963.4(SCN1A):c.5746del (p.Glu1916fs)
|
rs796053087
|
|
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5755G>C (p.Ala1919Pro)
|
rs796053104
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5770_5790del (p.Arg1924_Leu1930del)
|
rs796053088
|
|
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
|
|
|
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)
|
rs376669368
|
|
NM_001165963.4(SCN1A):c.5778C>G (p.Tyr1926Ter)
|
rs1064794251
|
|
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln)
|
rs371253263
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|
NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu)
|
rs796053049
|
|
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)
|
rs1553519782
|
|
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met)
|
rs796052952
|
|
NM_001165963.4(SCN1A):c.5876T>C (p.Met1959Thr)
|
rs1368302993
|
|
NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del)
|
rs2105421697
|
|
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
|
|
|
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
|
|
|
NM_001165963.4(SCN1A):c.5896G>T (p.Glu1966Ter)
|
rs1057524615
|
|
NM_001165963.4(SCN1A):c.5911G>C (p.Glu1971Gln)
|
rs1553519738
|
|
NM_001165963.4(SCN1A):c.5917dup (p.Thr1973fs)
|
rs1480668529
|
|
NM_001165963.4(SCN1A):c.5956T>C (p.Tyr1986His)
|
rs2105421114
|
|
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)
|
rs756519197
|
|
NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs)
|
rs1388173033
|
|
NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu)
|
|
|
NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs)
|
rs1553519690
|
|
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu)
|
rs761426364
|
|
NM_001165963.4(SCN1A):c.6021A>T (p.Lys2007Asn)
|
rs2105420299
|
|