NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)
|
rs2298771
|
0.73872
|
NM_001165963.4(SCN1A):c.4002+1985C>T
|
rs59010534
|
0.03965
|
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)
|
rs36031496
|
0.03789
|
NM_001165963.4(SCN1A):c.4002+2052A>G
|
rs58140851
|
0.01036
|
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.4002+2422A>G
|
rs185755900
|
0.00310
|
NM_001165963.4(SCN1A):c.4002+2261A>C
|
rs539758485
|
0.00217
|
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.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)
|
rs143980709
|
0.00159
|
NM_001165963.4(SCN1A):c.4002+2088C>T
|
rs138488822
|
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.4002+2383G>T
|
rs191448880
|
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.4002+2112T>C
|
rs528876785
|
0.00024
|
NM_001165963.4(SCN1A):c.4002+2053T>C
|
rs541854992
|
0.00022
|
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.3591A>G (p.Glu1197=)
|
rs371596040
|
0.00014
|
NM_001165963.4(SCN1A):c.4002+2640A>C
|
rs534632576
|
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.4002+2621C>T
|
rs1165497884
|
0.00011
|
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)
|
rs201905405
|
0.00011
|
NM_001165963.4(SCN1A):c.4002+2535T>A
|
rs766365175
|
0.00010
|
NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=)
|
rs199727342
|
0.00010
|
NM_001165963.4(SCN1A):c.3931G>A (p.Ala1311Thr)
|
rs549152510
|
0.00009
|
NM_001165963.4(SCN1A):c.4002+2048C>T
|
rs890146293
|
0.00009
|
NM_001165963.4(SCN1A):c.4002+2121A>G
|
rs1036524256
|
0.00009
|
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.4002+2213C>T
|
rs930950827
|
0.00008
|
NM_001165963.4(SCN1A):c.4002+2540T>C
|
rs960944425
|
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.4002+2247A>C
|
rs920922978
|
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.4852+17G>A
|
rs562963222
|
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.3429+19G>C
|
rs945969546
|
0.00004
|
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.3879+10G>A
|
rs202002728
|
0.00004
|
NM_001165963.4(SCN1A):c.4002+2150T>A
|
rs569906674
|
0.00004
|
NM_001165963.4(SCN1A):c.4002+2372C>T
|
rs996059069
|
0.00004
|
NM_001165963.4(SCN1A):c.4002+2374del
|
rs1260713650
|
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.4452T>C (p.Asp1484=)
|
rs1349846696
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile)
|
rs780360360
|
0.00004
|
NM_001165963.4(SCN1A):c.4791T>C (p.His1597=)
|
rs141051370
|
0.00004
|
NM_001165963.4(SCN1A):c.5007G>A (p.Ala1669=)
|
rs750366817
|
0.00004
|
NM_001165963.4(SCN1A):c.5547C>G (p.Leu1849=)
|
rs140529318
|
0.00004
|
NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=)
|
rs754371368
|
0.00004
|
NM_001165963.4(SCN1A):c.3386C>T (p.Thr1129Met)
|
rs779989776
|
0.00003
|
NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=)
|
rs375953445
|
0.00003
|
NM_001165963.4(SCN1A):c.3584A>G (p.Asn1195Ser)
|
rs754010186
|
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.4339-12C>G
|
rs776548109
|
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.4697G>A (p.Ser1566Asn)
|
rs200263247
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=)
|
rs369500022
|
0.00003
|
NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro)
|
rs566595038
|
0.00003
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=)
|
rs746651472
|
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.3161T>G (p.Leu1054Arg)
|
rs985473996
|
0.00002
|
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=)
|
rs797045939
|
0.00002
|
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.3502G>A (p.Val1168Ile)
|
rs146374754
|
0.00002
|
NM_001165963.4(SCN1A):c.3550+16C>T
|
rs1000651886
|
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.3879+9C>T
|
rs570092799
|
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.3978C>T (p.Ala1326=)
|
rs150831315
|
0.00002
|
NM_001165963.4(SCN1A):c.4002+2084A>G
|
rs1355573329
|
0.00002
|
NM_001165963.4(SCN1A):c.4002+2370T>C
|
rs1188572792
|
0.00002
|
NM_001165963.4(SCN1A):c.4002+2494T>C
|
rs1057202299
|
0.00002
|
NM_001165963.4(SCN1A):c.4002+8A>G
|
rs762574934
|
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.4284+7G>A
|
rs745918943
|
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.5028A>G (p.Leu1676=)
|
rs763806559
|
0.00002
|
NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=)
|
rs372367100
|
0.00002
|
NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=)
|
rs1044871344
|
0.00002
|
NM_001165963.4(SCN1A):c.5651C>T (p.Ala1884Val)
|
rs1188972480
|
0.00002
|
NM_001165963.4(SCN1A):c.5787C>T (p.His1929=)
|
rs371253263
|
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.5834A>G (p.Asn1945Ser)
|
rs767935681
|
0.00002
|
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)
|
rs376656165
|
0.00002
|
NM_001165963.4(SCN1A):c.5874C>T (p.Asp1958=)
|
rs951275940
|
0.00002
|
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr)
|
rs766656231
|
0.00002
|
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)
|
rs796052992
|
0.00001
|
NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=)
|
rs370793418
|
0.00001
|
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser)
|
rs1373733895
|
0.00001
|
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu)
|
rs376649518
|
0.00001
|
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro)
|
rs776055539
|
0.00001
|
NM_001165963.4(SCN1A):c.3175G>T (p.Asp1059Tyr)
|
rs1426284889
|
0.00001
|
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val)
|
rs779306054
|
0.00001
|
NM_001165963.4(SCN1A):c.3195T>C (p.His1065=)
|
rs145219358
|
0.00001
|
NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys)
|
rs1226603266
|
0.00001
|
NM_001165963.4(SCN1A):c.3225T>C (p.Tyr1075=)
|
rs1358367140
|
0.00001
|
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg)
|
rs1248613652
|
0.00001
|
NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=)
|
rs961517010
|
0.00001
|
NM_001165963.4(SCN1A):c.3283T>C (p.Tyr1095His)
|
rs1388336286
|
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.3357A>G (p.Val1119=)
|
rs771222969
|
0.00001
|
NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn)
|
rs372555722
|
0.00001
|
NM_001165963.4(SCN1A):c.3392A>G (p.Asp1131Gly)
|
rs1252603738
|
0.00001
|
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu)
|
rs746718015
|
0.00001
|
NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=)
|
rs181995339
|
0.00001
|
NM_001165963.4(SCN1A):c.3435G>A (p.Leu1145=)
|
rs371910801
|
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.3478G>A (p.Gly1160Ser)
|
rs776752552
|
0.00001
|
NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys)
|
rs368609628
|
0.00001
|
NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=)
|
rs769635347
|
0.00001
|
NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=)
|
rs1057524122
|
0.00001
|
NM_001165963.4(SCN1A):c.3551-3C>T
|
rs1225446966
|
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.3629C>T (p.Thr1210Met)
|
rs121918738
|
0.00001
|
NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=)
|
rs377326177
|
0.00001
|
NM_001165963.4(SCN1A):c.3651T>C (p.His1217=)
|
rs538655845
|
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.3760T>C (p.Tyr1254His)
|
rs1475198821
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001165963.4(SCN1A):c.3807A>C (p.Leu1269=)
|
rs1359405350
|
0.00001
|
NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=)
|
rs998325208
|
0.00001
|
NM_001165963.4(SCN1A):c.3890T>G (p.Val1297Gly)
|
rs781267314
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.3955A>G (p.Arg1319Gly)
|
rs1553529492
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2023A>G
|
rs1052506764
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2199G>C
|
rs1048104424
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2214G>A
|
rs1414799202
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2336G>A
|
rs147529489
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2360A>G
|
rs1029107872
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2374G>A
|
rs899082987
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2381C>T
|
rs537142789
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2407A>G
|
rs1191367818
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2436C>T
|
rs1272621179
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2510C>T
|
rs1574028087
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2561T>C
|
rs762618716
|
0.00001
|
NM_001165963.4(SCN1A):c.4002+2568G>A
|
rs980081654
|
0.00001
|
NM_001165963.4(SCN1A):c.4003-18T>C
|
rs1305983184
|
0.00001
|
NM_001165963.4(SCN1A):c.4125C>T (p.His1375=)
|
rs370788427
|
0.00001
|
NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=)
|
rs1240740243
|
0.00001
|
NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=)
|
rs761168283
|
0.00001
|
NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His)
|
rs1295072436
|
0.00001
|
NM_001165963.4(SCN1A):c.4179T>A (p.His1393Gln)
|
rs772400574
|
0.00001
|
NM_001165963.4(SCN1A):c.4210G>A (p.Glu1404Lys)
|
rs200406481
|
0.00001
|
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met)
|
rs1691042935
|
0.00001
|
NM_001165963.4(SCN1A):c.4284+14A>G
|
rs370074740
|
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.4342G>C (p.Glu1448Gln)
|
rs1193847815
|
0.00001
|
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=)
|
rs587781146
|
0.00001
|
NM_001165963.4(SCN1A):c.4477-6C>G
|
rs1470740998
|
0.00001
|
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)
|
rs121918632
|
0.00001
|
NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=)
|
rs778620898
|
0.00001
|
NM_001165963.4(SCN1A):c.4567A>G (p.Ile1523Val)
|
rs1474960995
|
0.00001
|
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)
|
rs1559114408
|
0.00001
|
NM_001165963.4(SCN1A):c.4580G>C (p.Gly1527Ala)
|
rs751929295
|
0.00001
|
NM_001165963.4(SCN1A):c.4581+10A>G
|
rs766780193
|
0.00001
|
NM_001165963.4(SCN1A):c.4581+12C>T
|
rs886055042
|
0.00001
|
NM_001165963.4(SCN1A):c.4582-11T>C
|
rs377533926
|
0.00001
|
NM_001165963.4(SCN1A):c.4582-19C>T
|
rs1246767396
|
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.4659T>G (p.Leu1553=)
|
rs764244249
|
0.00001
|
NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=)
|
rs774376498
|
0.00001
|
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)
|
rs1689707865
|
0.00001
|
NM_001165963.4(SCN1A):c.4690G>A (p.Asp1564Asn)
|
rs766227610
|
0.00001
|
NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=)
|
rs1559110682
|
0.00001
|
NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=)
|
rs762836573
|
0.00001
|
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe)
|
rs377325221
|
0.00001
|
NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=)
|
rs1379533666
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001165963.4(SCN1A):c.4896T>C (p.Pro1632=)
|
rs1689370353
|
0.00001
|
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=)
|
rs770111331
|
0.00001
|
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys)
|
rs121918811
|
0.00001
|
NM_001165963.4(SCN1A):c.5052C>T (p.Tyr1684=)
|
rs1433806086
|
0.00001
|
NM_001165963.4(SCN1A):c.5064G>T (p.Gly1688=)
|
rs752375814
|
0.00001
|
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)
|
rs548487014
|
0.00001
|
NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn)
|
rs748333147
|
0.00001
|
NM_001165963.4(SCN1A):c.5151A>G (p.Leu1717=)
|
rs1177078569
|
0.00001
|
NM_001165963.4(SCN1A):c.5169T>G (p.Ser1723=)
|
rs1168333541
|
0.00001
|
NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=)
|
rs140664455
|
0.00001
|
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)
|
rs528239871
|
0.00001
|
NM_001165963.4(SCN1A):c.5236G>C (p.Val1746Leu)
|
rs777579756
|
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.5430G>A (p.Glu1810=)
|
rs765676433
|
0.00001
|
NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=)
|
rs762310676
|
0.00001
|
NM_001165963.4(SCN1A):c.5451C>T (p.Pro1817=)
|
rs776991363
|
0.00001
|
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn)
|
rs747251662
|
0.00001
|
NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=)
|
rs754566611
|
0.00001
|
NM_001165963.4(SCN1A):c.5511G>A (p.Pro1837=)
|
rs1689194398
|
0.00001
|
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=)
|
rs886043063
|
0.00001
|
NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val)
|
rs1689187575
|
0.00001
|
NM_001165963.4(SCN1A):c.5601C>T (p.Ile1867=)
|
rs1573944589
|
0.00001
|
NM_001165963.4(SCN1A):c.5618A>G (p.Lys1873Arg)
|
rs1689172357
|
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.5673G>A (p.Glu1891=)
|
rs1457641968
|
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.5783G>A (p.Arg1928His)
|
rs1477444505
|
0.00001
|
NM_001165963.4(SCN1A):c.5802T>C (p.Thr1934=)
|
rs1391765490
|
0.00001
|
NM_001165963.4(SCN1A):c.5812G>A (p.Ala1938Thr)
|
rs536616689
|
0.00001
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NM_001165963.4(SCN1A):c.5831A>T (p.Lys1944Ile)
|
rs753059561
|
0.00001
|
NM_001165963.4(SCN1A):c.5832A>T (p.Lys1944Asn)
|
rs1255900122
|
0.00001
|
NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile)
|
rs763997333
|
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.5970A>C (p.Thr1990=)
|
rs1295648726
|
0.00001
|
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)
|
rs751750112
|
0.00001
|
NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=)
|
rs370049341
|
0.00001
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
|
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
|
|
|
NM_001165963.1(SCN1A):c.4853-110_4853-108delins129
|
|
|
NM_001165963.4(SCN1A):c.3077T>G (p.Val1026Gly)
|
rs1696379248
|
|
NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs)
|
rs1553540389
|
|
NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met)
|
|
|
NM_001165963.4(SCN1A):c.3104_3110del (p.Gln1035fs)
|
rs1574170908
|
|
NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter)
|
rs542420576
|
|
NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs)
|
rs1696373154
|
|
NM_001165963.4(SCN1A):c.3109_3119del (p.Ser1037fs)
|
rs2105795955
|
|
NM_001165963.4(SCN1A):c.3110C>A (p.Ser1037Tyr)
|
|
|
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.3124C>T (p.Gln1042Ter)
|
rs1553540342
|
|
NM_001165963.4(SCN1A):c.3124del (p.Gln1042fs)
|
|
|
NM_001165963.4(SCN1A):c.3126A>C (p.Gln1042His)
|
|
|
NM_001165963.4(SCN1A):c.3136G>T (p.Asp1046Tyr)
|
rs1696366603
|
|
NM_001165963.4(SCN1A):c.3139G>A (p.Glu1047Lys)
|
rs776984527
|
|
NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter)
|
rs776984527
|
|
NM_001165963.4(SCN1A):c.3144T>C (p.Ile1048=)
|
|
|
NM_001165963.4(SCN1A):c.3149C>T (p.Pro1050Leu)
|
|
|
NM_001165963.4(SCN1A):c.3150A>G (p.Pro1050=)
|
|
|
NM_001165963.4(SCN1A):c.3154G>T (p.Asp1052Tyr)
|
rs1696363649
|
|
NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val)
|
rs772577387
|
|
NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys)
|
rs797045939
|
|
NM_001165963.4(SCN1A):c.3167A>G (p.Asn1056Ser)
|
|
|
NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs)
|
rs1696358124
|
|
NM_001165963.4(SCN1A):c.3180_3181insA (p.Cys1061fs)
|
rs1696356978
|
|
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
|
|
|
NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs)
|
|
|
NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter)
|
rs1553540294
|
|
NM_001165963.4(SCN1A):c.3185T>A (p.Met1062Lys)
|
rs2105795236
|
|
NM_001165963.4(SCN1A):c.3185T>G (p.Met1062Arg)
|
|
|
NM_001165963.4(SCN1A):c.3186G>A (p.Met1062Ile)
|
|
|
NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser)
|
|
|
NM_001165963.4(SCN1A):c.3197C>A (p.Thr1066Lys)
|
|
|
NM_001165963.4(SCN1A):c.3200C>A (p.Ala1067Glu)
|
|
|
NM_001165963.4(SCN1A):c.3201A>C (p.Ala1067=)
|
rs1376202812
|
|
NM_001165963.4(SCN1A):c.3201A>G (p.Ala1067=)
|
|
|
NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly)
|
rs1553540263
|
|
NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs)
|
rs1574169179
|
|
NM_001165963.4(SCN1A):c.3232G>C (p.Asp1078His)
|
|
|
NM_001165963.4(SCN1A):c.3233A>G (p.Asp1078Gly)
|
|
|
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
|
|
|
NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter)
|
rs1248613652
|
|
NM_001165963.4(SCN1A):c.3245C>A (p.Thr1082Asn)
|
|
|
NM_001165963.4(SCN1A):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_001165963.4(SCN1A):c.3260G>A (p.Gly1087Glu)
|
|
|
NM_001165963.4(SCN1A):c.3260del (p.Gly1087fs)
|
rs2105794716
|
|
NM_001165963.4(SCN1A):c.3264T>C (p.Thr1088=)
|
rs1696342389
|
|
NM_001165963.4(SCN1A):c.3280A>G (p.Lys1094Glu)
|
|
|
NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs)
|
rs1696338792
|
|
NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys)
|
rs1188507636
|
|
NM_001165963.4(SCN1A):c.3301G>C (p.Asp1101His)
|
|
|
NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs)
|
rs1696333581
|
|
NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter)
|
rs863225032
|
|
NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr)
|
rs1559193311
|
|
NM_001165963.4(SCN1A):c.3309G>A (p.Met1103Ile)
|
rs2105794207
|
|
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
|
rs1574168611
|
|
NM_001165963.4(SCN1A):c.3311dup (p.Phe1105fs)
|
rs2105794174
|
|
NM_001165963.4(SCN1A):c.3324C>T (p.Asn1108=)
|
rs2105794049
|
|
NM_001165963.4(SCN1A):c.3327_3328del (p.Leu1111fs)
|
|
|
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr)
|
rs528170959
|
|
NM_001165963.4(SCN1A):c.3332T>C (p.Leu1111Pro)
|
|
|
NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met)
|
|
|
NM_001165963.4(SCN1A):c.3341C>T (p.Thr1114Ile)
|
|
|
NM_001165963.4(SCN1A):c.3342T>A (p.Thr1114=)
|
rs904226939
|
|
NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=)
|
|
|
NM_001165963.4(SCN1A):c.3342T>G (p.Thr1114=)
|
rs904226939
|
|
NM_001165963.4(SCN1A):c.3343G>C (p.Val1115Leu)
|
|
|
NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs)
|
rs1559193050
|
|
NM_001165963.4(SCN1A):c.3345A>T (p.Val1115=)
|
rs759998380
|
|
NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser)
|
|
|
NM_001165963.4(SCN1A):c.3356T>C (p.Val1119Ala)
|
rs2105793697
|
|
NM_001165963.4(SCN1A):c.3362A>T (p.Glu1121Val)
|
|
|
NM_001165963.4(SCN1A):c.3365C>G (p.Ser1122Cys)
|
rs2105793589
|
|
NM_001165963.4(SCN1A):c.3368A>C (p.Asp1123Ala)
|
rs1559192797
|
|
NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer)
|
rs1131691693
|
|
NM_001165963.4(SCN1A):c.3372T>G (p.Phe1124Leu)
|
rs1424688990
|
|
NM_001165963.4(SCN1A):c.3376A>G (p.Asn1126Asp)
|
|
|
NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs)
|
rs1064796177
|
|
NM_001165963.4(SCN1A):c.3380T>G (p.Leu1127Ter)
|
rs2105793395
|
|
NM_001165963.4(SCN1A):c.3385A>T (p.Thr1129Ser)
|
rs2105793364
|
|
NM_001165963.4(SCN1A):c.3391G>C (p.Asp1131His)
|
|
|
NM_001165963.4(SCN1A):c.3395T>C (p.Phe1132Ser)
|
|
|
NM_001165963.4(SCN1A):c.3395_3396del (p.Asp1131_Phe1132insTer)
|
rs2105793178
|
|
NM_001165963.4(SCN1A):c.3396T>C (p.Phe1132=)
|
|
|
NM_001165963.4(SCN1A):c.3401G>A (p.Ser1134Asn)
|
rs753444206
|
|
NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter)
|
rs2105793066
|
|
NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=)
|
rs796052954
|
|
NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter)
|
rs746718015
|
|
NM_001165963.4(SCN1A):c.3423C>T (p.Ser1141=)
|
rs1696301764
|
|
NM_001165963.4(SCN1A):c.3424A>G (p.Lys1142Glu)
|
rs1553540101
|
|
NM_001165963.4(SCN1A):c.3429+14G>C
|
rs1462589860
|
|
NM_001165963.4(SCN1A):c.3429+1G>A
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3429+20G>A
|
|
|
NM_001165963.4(SCN1A):c.3429+2T>C
|
|
|
NM_001165963.4(SCN1A):c.3429+5G>A
|
|
|
NM_001165963.4(SCN1A):c.3429+5G>T
|
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3430-13A>C
|
|
|
NM_001165963.4(SCN1A):c.3430-18T>C
|
|
|
NM_001165963.4(SCN1A):c.3430-1G>A
|
|
|
NM_001165963.4(SCN1A):c.3430-2A>G
|
rs1693198997
|
|
NM_001165963.4(SCN1A):c.3430-3C>G
|
rs1693199299
|
|
NM_001165963.4(SCN1A):c.3430-6T>C
|
|
|
NM_001165963.4(SCN1A):c.3430-7C>A
|
rs975085305
|
|
NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs)
|
rs1553534296
|
|
NM_001165963.4(SCN1A):c.3438_3442del (p.Asn1146fs)
|
rs2105630442
|
|
NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter)
|
rs794726733
|
|
NM_001165963.4(SCN1A):c.3445_3450del (p.Ser1151_Ser1152del)
|
rs1314539929
|
|
NM_001165963.4(SCN1A):c.3449G>A (p.Ser1150Asn)
|
|
|
NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro)
|
rs1693190884
|
|
NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter)
|
rs794726728
|
|
NM_001165963.4(SCN1A):c.3455C>T (p.Ser1152Leu)
|
|
|
NM_001165963.4(SCN1A):c.3462T>C (p.Gly1154=)
|
rs2105630006
|
|
NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs)
|
rs794726729
|
|
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.3483A>C (p.Ala1161=)
|
|
|
NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer)
|
rs794726774
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
|
|
|
NM_001165963.4(SCN1A):c.3504A>G (p.Val1168=)
|
|
|
NM_001165963.4(SCN1A):c.3506T>A (p.Val1169Glu)
|
rs1380673643
|
|
NM_001165963.4(SCN1A):c.3506T>G (p.Val1169Gly)
|
rs1380673643
|
|
NM_001165963.4(SCN1A):c.3510dup (p.Pro1171fs)
|
|
|
NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu)
|
rs1559152754
|
|
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys)
|
rs1553534085
|
|
NM_001165963.4(SCN1A):c.3517dup (p.Glu1173fs)
|
rs1693176153
|
|
NM_001165963.4(SCN1A):c.3524T>C (p.Leu1175Pro)
|
|
|
NM_001165963.4(SCN1A):c.3525_3526insTCTTCAGGTTCT (p.Leu1175_Glu1176insSerSerGlySer)
|
|
|
NM_001165963.4(SCN1A):c.3525_3526insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGAACCTGAAGAAACTCTT (p.Glu1176delinsPhePhePhePhePhePheXaaXaaXaaXaaTyrGluIleSerSerHisThrSerTer)
|
|
|
NM_001165963.4(SCN1A):c.3525dup (p.Glu1176Ter)
|
rs2105628869
|
|
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
|
|
|
NM_001165963.4(SCN1A):c.3529_3531del (p.Pro1177del)
|
|
|
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
|
rs1574069132
|
|
NM_001165963.4(SCN1A):c.3539G>T (p.Cys1180Phe)
|
rs1444741563
|
|
NM_001165963.4(SCN1A):c.3550+18A>C
|
rs866995453
|
|
NM_001165963.4(SCN1A):c.3550+18A>G
|
|
|
NM_001165963.4(SCN1A):c.3550+1G>A
|
rs794726836
|
|
NM_001165963.4(SCN1A):c.3550+20T>C
|
rs1693162810
|
|
NM_001165963.4(SCN1A):c.3550+2T>C
|
rs1574068971
|
|
NM_001165963.4(SCN1A):c.3550+6G>T
|
|
|
NM_001165963.4(SCN1A):c.3550+8A>C
|
|
|
NM_001165963.4(SCN1A):c.3551-12C>T
|
rs1692905818
|
|
NM_001165963.4(SCN1A):c.3551-18T>C
|
|
|
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT
|
rs2105611998
|
|
NM_001165963.4(SCN1A):c.3551-2A>T
|
rs2105612020
|
|
NM_001165963.4(SCN1A):c.3551-3C>A
|
|
|
NM_001165963.4(SCN1A):c.3551G>A (p.Gly1184Asp)
|
rs746541835
|
|
NM_001165963.4(SCN1A):c.3552C>T (p.Gly1184=)
|
rs1574061760
|
|
NM_001165963.4(SCN1A):c.3554G>A (p.Cys1185Tyr)
|
|
|
NM_001165963.4(SCN1A):c.3565T>C (p.Phe1189Leu)
|
rs1692897012
|
|
NM_001165963.4(SCN1A):c.3568A>C (p.Lys1190Gln)
|
rs1553532748
|
|
NM_001165963.4(SCN1A):c.3572G>A (p.Cys1191Tyr)
|
|
|
NM_001165963.4(SCN1A):c.3574T>G (p.Cys1192Gly)
|
|
|
NM_001165963.4(SCN1A):c.3579A>C (p.Gln1193His)
|
rs757649321
|
|
NM_001165963.4(SCN1A):c.3582C>T (p.Ile1194=)
|
rs2105611470
|
|
NM_001165963.4(SCN1A):c.3596G>A (p.Gly1199Asp)
|
|
|
NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter)
|
rs796052995
|
|
NM_001165963.4(SCN1A):c.3609A>G (p.Gln1203=)
|
rs2105611013
|
|
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs)
|
rs1574061044
|
|
NM_001165963.4(SCN1A):c.3610del (p.Trp1204fs)
|
|
|
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter)
|
rs1553532671
|
|
NM_001165963.4(SCN1A):c.3614G>A (p.Trp1205Ter)
|
rs2105610895
|
|
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)
|
rs794726720
|
|
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys)
|
rs762734890
|
|
NM_001165963.4(SCN1A):c.3618C>T (p.Asn1206=)
|
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.3621G>T (p.Leu1207=)
|
|
|
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys)
|
rs1559149025
|
|
NM_001165963.4(SCN1A):c.3623G>C (p.Arg1208Thr)
|
|
|
NM_001165963.4(SCN1A):c.3625A>T (p.Arg1209Trp)
|
rs2105610731
|
|
NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys)
|
rs121918738
|
|
NM_001165963.4(SCN1A):c.3631T>C (p.Cys1211Arg)
|
rs1692876877
|
|
NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs)
|
rs1060502182
|
|
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)
|
rs1574060743
|
|
NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter)
|
|
|
NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs)
|
rs1574060717
|
|
NM_001165963.4(SCN1A):c.3635del (p.Phe1212fs)
|
rs2105610528
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys)
|
|
|
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)
|
rs1692873873
|
|
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
|
|
|
NM_001165963.4(SCN1A):c.3644T>A (p.Val1215Asp)
|
rs1559148930
|
|
NM_001165963.4(SCN1A):c.3649_3650insTT (p.His1217fs)
|
rs2105610260
|
|
NM_001165963.4(SCN1A):c.3655T>A (p.Trp1219Arg)
|
rs1553532599
|
|
NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter)
|
rs1692870117
|
|
NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter)
|
rs863225033
|
|
NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu)
|
rs2105610047
|
|
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
|
|
|
NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln)
|
rs794726854
|
|
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly)
|
rs1692866593
|
|
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3665C>T (p.Thr1222Ile)
|
|
|
NM_001165963.4(SCN1A):c.3667T>G (p.Phe1223Val)
|
|
|
NM_001165963.4(SCN1A):c.3669C>T (p.Phe1223=)
|
rs1574060392
|
|
NM_001165963.4(SCN1A):c.3670A>G (p.Ile1224Val)
|
rs1210683098
|
|
NM_001165963.4(SCN1A):c.3671T>C (p.Ile1224Thr)
|
rs1553532551
|
|
NM_001165963.4(SCN1A):c.3672T>G (p.Ile1224Met)
|
|
|
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val)
|
rs2105609833
|
|
NM_001165963.4(SCN1A):c.3677T>G (p.Phe1226Cys)
|
rs1692863303
|
|
NM_001165963.4(SCN1A):c.3680T>C (p.Met1227Thr)
|
|
|
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)
|
rs796052997
|
|
NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=)
|
|
|
NM_001165963.4(SCN1A):c.3685C>T (p.Leu1229Phe)
|
|
|
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe)
|
rs2105609699
|
|
NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro)
|
rs1574060250
|
|
NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter)
|
rs1057519534
|
|
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
|
|
|
NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr)
|
rs121918800
|
|
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
|
|
|
NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg)
|
rs121918746
|
|
NM_001165963.4(SCN1A):c.3695G>A (p.Ser1232Asn)
|
|
|
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
|
|
|
NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg)
|
|
|
NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser)
|
|
|
NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg)
|
rs121917911
|
|
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp)
|
rs1553532470
|
|
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs)
|
rs869312670
|
|
NM_001165963.4(SCN1A):c.3705+10del
|
rs570862962
|
|
NM_001165963.4(SCN1A):c.3705+18A>G
|
|
|
NM_001165963.4(SCN1A):c.3705+1G>A
|
rs794726744
|
|
NM_001165963.4(SCN1A):c.3705+1G>C
|
|
|
NM_001165963.4(SCN1A):c.3705+1G>T
|
rs794726744
|
|
NM_001165963.4(SCN1A):c.3705+2T>A
|
rs794726735
|
|
NM_001165963.4(SCN1A):c.3705+3G>T
|
rs2105609368
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3705+6T>C
|
rs1692854443
|
|
NM_001165963.4(SCN1A):c.3705G>A (p.Leu1235=)
|
rs1251252995
|
|
NM_001165963.4(SCN1A):c.3705G>C (p.Leu1235=)
|
rs1251252995
|
|
NM_001165963.4(SCN1A):c.3706-12T>G
|
rs2105594508
|
|
NM_001165963.4(SCN1A):c.3706-12dup
|
rs1692588027
|
|
NM_001165963.4(SCN1A):c.3706-14C>T
|
rs1692589493
|
|
NM_001165963.4(SCN1A):c.3706-18G>A
|
|
|
NM_001165963.4(SCN1A):c.3706-1G>C
|
rs1692586014
|
|
NM_001165963.4(SCN1A):c.3706-20_3706-19insCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT
|
|
|
NM_001165963.4(SCN1A):c.3706-2A>G
|
|
|
NM_001165963.4(SCN1A):c.3706-2A>T
|
rs1692586274
|
|
NM_001165963.4(SCN1A):c.3706-3T>C
|
rs1281873956
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser)
|
rs1553531410
|
|
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3712G>C (p.Glu1238Gln)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3715_3721dup (p.Tyr1241Ter)
|
rs2105593982
|
|
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del)
|
rs1574052546
|
|
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
|
|
|
NM_001165963.4(SCN1A):c.3724A>G (p.Ile1242Val)
|
rs2105593894
|
|
NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs)
|
rs796053072
|
|
NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs)
|
rs794726706
|
|
NM_001165963.4(SCN1A):c.3726del (p.Ile1242fs)
|
rs1692577292
|
|
NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter)
|
rs794726727
|
|
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.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter)
|
rs794726817
|
|
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
|
rs1574052179
|
|
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter)
|
rs1240187329
|
|
NM_001165963.4(SCN1A):c.3762T>C (p.Tyr1254=)
|
|
|
NM_001165963.4(SCN1A):c.3763G>A (p.Ala1255Thr)
|
|
|
NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro)
|
rs777939538
|
|
NM_001165963.4(SCN1A):c.3767A>C (p.Asp1256Ala)
|
|
|
NM_001165963.4(SCN1A):c.3767A>G (p.Asp1256Gly)
|
rs2105593110
|
|
NM_001165963.4(SCN1A):c.3768C>T (p.Asp1256=)
|
rs2105593083
|
|
NM_001165963.4(SCN1A):c.3774T>G (p.Val1258=)
|
|
|
NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro)
|
rs121918739
|
|
NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter)
|
rs1043031572
|
|
NM_001165963.4(SCN1A):c.3783C>T (p.Tyr1261=)
|
|
|
NM_001165963.4(SCN1A):c.3785_3797del (p.Ile1262fs)
|
rs1574051665
|
|
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu)
|
rs1559144956
|
|
NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu)
|
rs121918752
|
|
NM_001165963.4(SCN1A):c.3791T>C (p.Ile1264Thr)
|
|
|
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
|
|
|
NM_001165963.4(SCN1A):c.3793C>T (p.Leu1265=)
|
|
|
NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro)
|
rs121918794
|
|
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)
|
rs1064795355
|
|
NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs)
|
rs794726709
|
|
NM_001165963.4(SCN1A):c.3803T>G (p.Leu1268Arg)
|
rs2105592653
|
|
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr)
|
rs121918626
|
|
NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter)
|
rs1574051496
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
|
rs794726841
|
|
NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser)
|
rs794726852
|
|
NM_001165963.4(SCN1A):c.3822T>C (p.Tyr1274=)
|
|
|
NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter)
|
rs1060502188
|
|
NM_001165963.4(SCN1A):c.3824G>T (p.Gly1275Val)
|
|
|
NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe)
|
rs1692552933
|
|
NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter)
|
rs794726731
|
|
NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter)
|
rs1553531217
|
|
NM_001165963.4(SCN1A):c.3834A>G (p.Thr1278=)
|
rs757206525
|
|
NM_001165963.4(SCN1A):c.3836A>G (p.Tyr1279Cys)
|
|
|
NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs)
|
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp)
|
rs1692549700
|
|
NM_001165963.4(SCN1A):c.3845A>G (p.Asn1282Ser)
|
rs1692549264
|
|
NM_001165963.4(SCN1A):c.3846T>C (p.Asn1282=)
|
|
|
NM_001165963.4(SCN1A):c.3848C>G (p.Ala1283Gly)
|
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter)
|
rs1559144583
|
|
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
|
|
|
NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs)
|
rs863225034
|
|
NM_001165963.4(SCN1A):c.3854G>A (p.Cys1285Tyr)
|
rs1692546613
|
|
NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter)
|
rs794726853
|
|
NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro)
|
rs121918740
|
|
NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)
|
rs1692543303
|
|
NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del)
|
rs2105591602
|
|
NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser)
|
rs794727224
|
|
NM_001165963.4(SCN1A):c.3867del (p.Phe1289_Leu1290insTer)
|
|
|
NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter)
|
rs2105591567
|
|
NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu)
|
rs2105591537
|
|
NM_001165963.4(SCN1A):c.3879+12T>A
|
|
|
NM_001165963.4(SCN1A):c.3879+19T>C
|
|
|
NM_001165963.4(SCN1A):c.3879+1G>A
|
|
|
NM_001165963.4(SCN1A):c.3879+1G>T
|
rs794726700
|
|
NM_001165963.4(SCN1A):c.3879+4G>T
|
rs763755211
|
|
NM_001165963.4(SCN1A):c.3879+5G>C
|
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3880-10G>C
|
rs886055043
|
|
NM_001165963.4(SCN1A):c.3880-11del
|
|
|
NM_001165963.4(SCN1A):c.3880-15T>C
|
|
|
NM_001165963.4(SCN1A):c.3880-1G>A
|
|
|
NM_001165963.4(SCN1A):c.3880-1G>T
|
rs1559140855
|
|
NM_001165963.4(SCN1A):c.3880-2A>G
|
rs794726816
|
|
NM_001165963.4(SCN1A):c.3880-2_3880-1del
|
|
|
NM_001165963.4(SCN1A):c.3880G>T (p.Val1294Phe)
|
rs1692186944
|
|
NM_001165963.4(SCN1A):c.3883T>C (p.Ser1295Pro)
|
|
|
NM_001165963.4(SCN1A):c.3883T>G (p.Ser1295Ala)
|
|
|
NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter)
|
rs2105571577
|
|
NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=)
|
|
|
NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met)
|
rs375896308
|
|
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
|
rs2105571418
|
|
NM_001165963.4(SCN1A):c.3893G>C (p.Ser1298Thr)
|
rs2105571316
|
|
NM_001165963.4(SCN1A):c.3896T>C (p.Leu1299Ser)
|
|
|
NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg)
|
rs146878122
|
|
NM_001165963.4(SCN1A):c.3902C>T (p.Ala1301Val)
|
rs1553529579
|
|
NM_001165963.4(SCN1A):c.3905dup (p.Asn1302fs)
|
rs2105571117
|
|
NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val)
|
rs2105570936
|
|
NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter)
|
|
|
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val)
|
rs121918801
|
|
NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His)
|
rs1553529527
|
|
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
|
|
|
NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu)
|
rs1574039742
|
|
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.3937A>C (p.Lys1313Gln)
|
rs150017890
|
|
NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter)
|
|
|
NM_001165963.4(SCN1A):c.3942del (p.Leu1315fs)
|
rs2105570349
|
|
NM_001165963.4(SCN1A):c.3943C>T (p.Leu1315Phe)
|
rs1559140423
|
|
NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs)
|
rs1692166604
|
|
NM_001165963.4(SCN1A):c.3951A>G (p.Thr1317=)
|
|
|
NM_001165963.4(SCN1A):c.3952C>G (p.Leu1318Val)
|
rs1692165143
|
|
NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del)
|
rs1553529461
|
|
NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro)
|
rs1692164539
|
|
NM_001165963.4(SCN1A):c.3954A>G (p.Leu1318=)
|
rs2105570166
|
|
NM_001165963.4(SCN1A):c.3961C>T (p.Leu1321=)
|
rs2105570052
|
|
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
|
|
|
NM_001165963.4(SCN1A):c.3962T>C (p.Leu1321Pro)
|
rs1692162066
|
|
NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr)
|
rs2105569996
|
|
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
|
|
|
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer)
|
rs794726723
|
|
NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro)
|
|
|
NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs)
|
rs1559140306
|
|
NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter)
|
|
|
NM_001165963.4(SCN1A):c.3975A>C (p.Arg1325Ser)
|
rs1692159292
|
|
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp)
|
rs2105569724
|
|
NM_001165963.4(SCN1A):c.3979T>G (p.Leu1327Val)
|
|
|
NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro)
|
|
|
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro)
|
|
|
NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu)
|
|
|
NM_001165963.4(SCN1A):c.3989T>C (p.Phe1330Ser)
|
rs1559140205
|
|
NM_001165963.4(SCN1A):c.3996G>A (p.Gly1332=)
|
|
|
NM_001165963.4(SCN1A):c.3996del (p.Gly1332_Met1333insTer)
|
rs2105569513
|
|
NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer)
|
rs1553529426
|
|
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
|
|
|
NM_001165963.4(SCN1A):c.4001G>A (p.Arg1334Lys)
|
|
|
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
|
|
|
NM_001165963.4(SCN1A):c.4002+14A>C
|
|
|
NM_001165963.4(SCN1A):c.4002+1953_4221del
|
|
|
NM_001165963.4(SCN1A):c.4002+1960A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+1965C>T
|
rs2105551111
|
|
NM_001165963.4(SCN1A):c.4002+1979G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+1983T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+1985del
|
rs2105550969
|
|
NM_001165963.4(SCN1A):c.4002+1992T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+1997C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+1999_4002+2014del
|
|
|
NM_001165963.4(SCN1A):c.4002+19C>T
|
rs1692150049
|
|
NM_001165963.4(SCN1A):c.4002+1G>T
|
rs1692153643
|
|
NM_001165963.4(SCN1A):c.4002+2005G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2008C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2022T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2025T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2033G>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2042A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2044A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2051G>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2057_4002+2059del
|
rs1192335240
|
|
NM_001165963.4(SCN1A):c.4002+2062A>G
|
rs1691837819
|
|
NM_001165963.4(SCN1A):c.4002+2063G>T
|
rs2105550345
|
|
NM_001165963.4(SCN1A):c.4002+2070A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2073A>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2076_4002+2079del
|
rs1259590393
|
|
NM_001165963.4(SCN1A):c.4002+2085_4002+2087del
|
|
|
NM_001165963.4(SCN1A):c.4002+2089G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2089G>T
|
rs539034474
|
|
NM_001165963.4(SCN1A):c.4002+2095C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2097T>C
|
rs2105550019
|
|
NM_001165963.4(SCN1A):c.4002+2098T>C
|
rs182825244
|
|
NM_001165963.4(SCN1A):c.4002+2098T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2098del
|
rs768145184
|
|
NM_001165963.4(SCN1A):c.4002+2099G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+20C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2107C>T
|
rs2105549912
|
|
NM_001165963.4(SCN1A):c.4002+2109T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2118C>T
|
rs2105549796
|
|
NM_001165963.4(SCN1A):c.4002+2119A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2128G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2130T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2144C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2147T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2151T>C
|
rs2105549480
|
|
NM_001165963.4(SCN1A):c.4002+2155T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2161A>G
|
rs886825546
|
|
NM_001165963.4(SCN1A):c.4002+2171C>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2182A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2184T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2184T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2203G>A
|
rs1375615632
|
|
NM_001165963.4(SCN1A):c.4002+2206T>A
|
rs927311502
|
|
NM_001165963.4(SCN1A):c.4002+2206T>C
|
rs927311502
|
|
NM_001165963.4(SCN1A):c.4002+2213_4002+2215del
|
|
|
NM_001165963.4(SCN1A):c.4002+2242T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2253G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2260T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2261A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2264T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2267C>T
|
rs1009086858
|
|
NM_001165963.4(SCN1A):c.4002+2272C>G
|
rs2105548669
|
|
NM_001165963.4(SCN1A):c.4002+2273T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2276G>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2281_4002+2287del
|
|
|
NM_001165963.4(SCN1A):c.4002+2289C>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2298T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2304G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2305_4002+2312dup
|
rs2105548367
|
|
NM_001165963.4(SCN1A):c.4002+2310_4002+2311dup
|
|
|
NM_001165963.4(SCN1A):c.4002+2320G>A
|
rs577323922
|
|
NM_001165963.4(SCN1A):c.4002+2342C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2347T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2347T>G
|
rs1476753090
|
|
NM_001165963.4(SCN1A):c.4002+2349A>T
|
rs2105547965
|
|
NM_001165963.4(SCN1A):c.4002+2352A>C
|
rs2105547919
|
|
NM_001165963.4(SCN1A):c.4002+2356del
|
|
|
NM_001165963.4(SCN1A):c.4002+2358T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2361C>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2361C>T
|
rs2105547851
|
|
NM_001165963.4(SCN1A):c.4002+2364C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2369G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2388CTAA[3]
|
|
|
NM_001165963.4(SCN1A):c.4002+2393T>C
|
rs2105547616
|
|
NM_001165963.4(SCN1A):c.4002+2395_4002+2398dup
|
|
|
NM_001165963.4(SCN1A):c.4002+2401A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2404T>C
|
rs754877109
|
|
NM_001165963.4(SCN1A):c.4002+2407A>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2410T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2421T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2430_4002+2432dup
|
rs2105547380
|
|
NM_001165963.4(SCN1A):c.4002+2439C>A
|
rs2105547332
|
|
NM_001165963.4(SCN1A):c.4002+2450G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>C
|
rs869312684
|
|
NM_001165963.4(SCN1A):c.4002+2452G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2455G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2458C>T
|
rs2105547203
|
|
NM_001165963.4(SCN1A):c.4002+2459G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2467C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2471C>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2493C>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2494T>G
|
rs1057202299
|
|
NM_001165963.4(SCN1A):c.4002+2499T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2499T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2501C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2509G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2510del
|
|
|
NM_001165963.4(SCN1A):c.4002+2519A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2532G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2537A>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2538T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2543A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2544G>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2545T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2548G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2557G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2563G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2565G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2569G>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2576T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2577T>A
|
rs1691773795
|
|
NM_001165963.4(SCN1A):c.4002+2579T>A
|
rs947601907
|
|
NM_001165963.4(SCN1A):c.4002+2579T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2588A>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2589G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2590T>C
|
rs1574027484
|
|
NM_001165963.4(SCN1A):c.4002+2592G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2600A>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2600A>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2614C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2623T>C
|
rs2105545931
|
|
NM_001165963.4(SCN1A):c.4002+2624C>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2627_4002+2628del
|
rs1462666494
|
|
NM_001165963.4(SCN1A):c.4002+2634G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2635T>C
|
|
|
NM_001165963.4(SCN1A):c.4002+2636C>T
|
|
|
NM_001165963.4(SCN1A):c.4002+2649T>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2649del
|
|
|
NM_001165963.4(SCN1A):c.4002+2650del
|
|
|
NM_001165963.4(SCN1A):c.4002+2T>C
|
rs1559140110
|
|
NM_001165963.4(SCN1A):c.4003-11_4036del
|
rs1559128532
|
|
NM_001165963.4(SCN1A):c.4003-14C>T
|
rs1241008825
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003-4T>G
|
|
|
NM_001165963.4(SCN1A):c.4003-603T>C
|
|
|
NM_001165963.4(SCN1A):c.4003-6T>G
|
|
|
NM_001165963.4(SCN1A):c.4003-7G>A
|
rs1334990688
|
|
NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met)
|
rs121917960
|
|
NM_001165963.4(SCN1A):c.4005G>A (p.Val1335=)
|
|
|
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)
|
rs1691097432
|
|
NM_001165963.4(SCN1A):c.4010T>C (p.Val1337Ala)
|
rs794727338
|
|
NM_001165963.4(SCN1A):c.4013_4015dup (p.Asn1338_Ala1339insAsp)
|
rs1691093633
|
|
NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val)
|
rs794726789
|
|
NM_001165963.4(SCN1A):c.4017C>T (p.Ala1339=)
|
rs2105510596
|
|
NM_001165963.4(SCN1A):c.4017_4018dup (p.Leu1340fs)
|
rs2105510576
|
|
NM_001165963.4(SCN1A):c.4020T>C (p.Leu1340=)
|
rs1691091194
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs)
|
rs1691088488
|
|
NM_001165963.4(SCN1A):c.4031T>C (p.Ile1344Thr)
|
rs1691087838
|
|
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)
|
rs1574006857
|
|
NM_001165963.4(SCN1A):c.4035A>G (p.Pro1345=)
|
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.4037C>T (p.Ser1346Phe)
|
|
|
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
|
|
|
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
|
|
|
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile)
|
rs794726822
|
|
NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr)
|
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=)
|
rs2105510228
|
|
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe)
|
rs1691082638
|
|
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro)
|
rs1553525313
|
|
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe)
|
rs121917954
|
|
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
|
|
|
NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe)
|
rs1057521537
|
|
NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro)
|
rs121918776
|
|
NM_001165963.4(SCN1A):c.4068A>G (p.Ile1356Met)
|
rs1691078631
|
|
NM_001165963.4(SCN1A):c.4070T>A (p.Phe1357Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg)
|
|
|
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu)
|
rs121917961
|
|
NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile)
|
rs1691077298
|
|
NM_001165963.4(SCN1A):c.4075C>G (p.Leu1359Val)
|
rs1691077298
|
|
NM_001165963.4(SCN1A):c.4076T>C (p.Leu1359Pro)
|
|
|
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
|
|
|
NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu)
|
rs2105509873
|
|
NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg)
|
rs794726779
|
|
NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn)
|
rs794726707
|
|
NM_001165963.4(SCN1A):c.4088T>C (p.Ile1363Thr)
|
|
|
NM_001165963.4(SCN1A):c.4091T>C (p.Met1364Thr)
|
rs1691074591
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4095C>G (p.Gly1365=)
|
rs372749240
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys)
|
rs121918760
|
|
NM_001165963.4(SCN1A):c.4102T>G (p.Leu1368Val)
|
rs1553525227
|
|
NM_001165963.4(SCN1A):c.4104G>A (p.Leu1368=)
|
|
|
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro)
|
rs2105509598
|
|
NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val)
|
rs1553525210
|
|
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
|
|
|
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys)
|
rs1064795303
|
|
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4117T>G (p.Phe1373Val)
|
rs2105509471
|
|
NM_001165963.4(SCN1A):c.4118T>C (p.Phe1373Ser)
|
rs2105509458
|
|
NM_001165963.4(SCN1A):c.4119C>T (p.Phe1373=)
|
rs2105509444
|
|
NM_001165963.4(SCN1A):c.4120T>C (p.Tyr1374His)
|
rs750007609
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
|
|
|
NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr)
|
rs2105509347
|
|
NM_001165963.4(SCN1A):c.4128T>G (p.Cys1376Trp)
|
rs1485075354
|
|
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4133_4134insATAA (p.Asn1378delinsLysTer)
|
|
|
NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=)
|
|
|
NM_001165963.4(SCN1A):c.4144G>A (p.Gly1382Ser)
|
rs2105509153
|
|
NM_001165963.4(SCN1A):c.4144_4153del (p.Gly1382fs)
|
|
|
NM_001165963.4(SCN1A):c.4146T>C (p.Gly1382=)
|
rs1574005667
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4147G>A (p.Asp1383Asn)
|
rs2105509090
|
|
NM_001165963.4(SCN1A):c.4156G>A (p.Asp1386Asn)
|
|
|
NM_001165963.4(SCN1A):c.4158C>T (p.Asp1386=)
|
|
|
NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val)
|
rs764507532
|
|
NM_001165963.4(SCN1A):c.4161C>G (p.Ile1387Met)
|
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4168G>T (p.Val1390Leu)
|
|
|
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
|
|
|
NM_001165963.4(SCN1A):c.4170G>C (p.Val1390=)
|
rs1474333400
|
|
NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs)
|
rs1553525036
|
|
NM_001165963.4(SCN1A):c.4177C>T (p.His1393Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs)
|
rs1574005235
|
|
NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro)
|
|
|
NM_001165963.4(SCN1A):c.4181C>T (p.Thr1394Ile)
|
|
|
NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs)
|
rs1691052813
|
|
NM_001165963.4(SCN1A):c.4184_4187dup (p.Cys1396Ter)
|
rs2105508605
|
|
NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly)
|
rs121917987
|
|
NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter)
|
rs794726745
|
|
NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro)
|
|
|
NM_001165963.4(SCN1A):c.4201G>A (p.Glu1401Lys)
|
rs1691049407
|
|
NM_001165963.4(SCN1A):c.4204del (p.Arg1402fs)
|
rs2105508454
|
|
NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs)
|
rs1691048388
|
|
NM_001165963.4(SCN1A):c.4214C>T (p.Thr1405Ile)
|
rs2105508351
|
|
NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.4218T>A (p.Ala1406=)
|
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln)
|
rs1691045272
|
|
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter)
|
rs794726784
|
|
NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter)
|
rs794727337
|
|
NM_001165963.4(SCN1A):c.4232T>C (p.Val1411Ala)
|
|
|
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4234A>T (p.Lys1412Ter)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer)
|
rs1060502183
|
|
NM_001165963.4(SCN1A):c.4238T>A (p.Val1413Glu)
|
rs1559127385
|
|
NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr)
|
rs121917925
|
|
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
|
|
|
NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser)
|
rs1691039670
|
|
NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys)
|
|
|
NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer)
|
rs794726705
|
|
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
|
|
|
NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly)
|
rs2105507958
|
|
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
|
|
|
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val)
|
rs373547836
|
|
NM_001165963.4(SCN1A):c.4257A>T (p.Gly1419=)
|
rs2105507859
|
|
NM_001165963.4(SCN1A):c.4260del (p.Phe1420fs)
|
|
|
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
|
|
|
NM_001165963.4(SCN1A):c.4262G>T (p.Gly1421Val)
|
rs1064795756
|
|
NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=)
|
|
|
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
|
|
|
NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter)
|
rs863225035
|
|
NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val)
|
rs1060502190
|
|
NM_001165963.4(SCN1A):c.4269_4272del (p.Ser1424fs)
|
rs1574004452
|
|
NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro)
|
|
|
NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg)
|
rs121917944
|
|
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
|
|
|
NM_001165963.4(SCN1A):c.4282G>C (p.Val1428Leu)
|
rs878854263
|
|
NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe)
|
rs878854263
|
|
NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp)
|
rs121918627
|
|
NM_001165963.4(SCN1A):c.4284+18del
|
|
|
NM_001165963.4(SCN1A):c.4284+1G>A
|
rs1553524865
|
|
NM_001165963.4(SCN1A):c.4284+1G>T
|
rs1553524865
|
|
NM_001165963.4(SCN1A):c.4284+7G>T
|
|
|
NM_001165963.4(SCN1A):c.4285-12C>T
|
|
|
NM_001165963.4(SCN1A):c.4285-4A>G
|
rs796053007
|
|
NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4285G>T (p.Ala1429Ser)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val)
|
rs2105487145
|
|
NM_001165963.4(SCN1A):c.4288A>T (p.Thr1430Ser)
|
|
|
NM_001165963.4(SCN1A):c.4293C>A (p.Phe1431Leu)
|
|
|
NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu)
|
rs1553523204
|
|
NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile)
|
rs1690583220
|
|
NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg)
|
rs121917908
|
|
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.4300T>C (p.Trp1434Arg)
|
rs121918789
|
|
NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter)
|
rs794726699
|
|
NM_001165963.4(SCN1A):c.4306G>A (p.Asp1436Asn)
|
|
|
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
|
|
|
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
|
|
|
NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr)
|
rs796053010
|
|
NM_001165963.4(SCN1A):c.4316A>G (p.Tyr1439Cys)
|
rs1690577824
|
|
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)
|
rs2105486716
|
|
NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val)
|
rs1559122124
|
|
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)
|
rs2105486615
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4325T>C (p.Val1442Ala)
|
rs1690573756
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4328A>G (p.Asp1443Gly)
|
|
|
NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter)
|
rs1553523142
|
|
NM_001165963.4(SCN1A):c.4334G>A (p.Arg1445Lys)
|
|
|
NM_001165963.4(SCN1A):c.4335A>G (p.Arg1445=)
|
rs2105486418
|
|
NM_001165963.4(SCN1A):c.4338+17T>A
|
|
|
NM_001165963.4(SCN1A):c.4338+19C>T
|
rs2105486220
|
|
NM_001165963.4(SCN1A):c.4338+1G>A
|
|
|
NM_001165963.4(SCN1A):c.4338+4A>C
|
rs794726734
|
|
NM_001165963.4(SCN1A):c.4338+5G>A
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4338+5G>C
|
rs796053011
|
|
NM_001165963.4(SCN1A):c.4338+5G>T
|
|
|
NM_001165963.4(SCN1A):c.4338+616G>A
|
rs1366966423
|
|
NM_001165963.4(SCN1A):c.4339-12C>A
|
rs776548109
|
|
NM_001165963.4(SCN1A):c.4339-1G>A
|
rs1553522517
|
|
NM_001165963.4(SCN1A):c.4339-21C>G
|
rs1690353601
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
NM_001165963.4(SCN1A):c.4339G>C (p.Val1447Leu)
|
rs1559119642
|
|
NM_001165963.4(SCN1A):c.4339G>T (p.Val1447Leu)
|
rs1559119642
|
|
NM_001165963.4(SCN1A):c.4342G>A (p.Glu1448Lys)
|
|
|
NM_001165963.4(SCN1A):c.4343A>T (p.Glu1448Val)
|
|
|
NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys)
|
rs121918806
|
|
NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg)
|
rs121918790
|
|
NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr)
|
rs794726696
|
|
NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala)
|
rs794726696
|
|
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys)
|
rs1690345764
|
|
NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=)
|
rs1573984787
|
|
NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter)
|
rs1573984787
|
|
NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys)
|
rs1553522472
|
|
NM_001165963.4(SCN1A):c.4362A>T (p.Glu1454Asp)
|
|
|
NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys)
|
rs1131691600
|
|
NM_001165963.4(SCN1A):c.4363G>C (p.Glu1455Gln)
|
rs1131691600
|
|
NM_001165963.4(SCN1A):c.4365A>C (p.Glu1455Asp)
|
|
|
NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG (p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu)
|
rs2105476619
|
|
NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs)
|
rs1690342079
|
|
NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter)
|
|
|
NM_001165963.4(SCN1A):c.4375A>G (p.Met1459Val)
|
rs1553522451
|
|
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs)
|
rs2105476550
|
|
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
|
|
|
NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile)
|
rs121918772
|
|
NM_001165963.4(SCN1A):c.4382T>C (p.Leu1461Pro)
|
|
|
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His)
|
rs1559119345
|
|
NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys)
|
rs121917962
|
|
NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser)
|
rs121917946
|
|
NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu)
|
|
|
NM_001165963.4(SCN1A):c.4390G>T (p.Val1464Phe)
|
rs1690336662
|
|
NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala)
|
|
|
NM_001165963.4(SCN1A):c.4392T>C (p.Val1464=)
|
|
|
NM_001165963.4(SCN1A):c.4393dup (p.Ile1465fs)
|
|
|
NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)
|
rs2105476313
|
|
NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val)
|
|
|
NM_001165963.4(SCN1A):c.4401C>T (p.Ile1467=)
|
rs1690335252
|
|
NM_001165963.4(SCN1A):c.4408G>C (p.Gly1470Arg)
|
rs121917924
|
|
NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp)
|
rs121917924
|
|
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.4409G>C (p.Gly1470Ala)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe)
|
rs794726809
|
|
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
|
rs1690331819
|
|
NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser)
|
|
|
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val)
|
rs2105476084
|
|
NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser)
|
rs121917947
|
|
NM_001165963.4(SCN1A):c.4424T>G (p.Leu1475Trp)
|
rs121917947
|
|
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr)
|
rs2105476040
|
|
NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser)
|
rs2105476040
|
|
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
|
|
|
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4437T>G (p.Ile1479Met)
|
|
|
NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val)
|
rs121917996
|
|
NM_001165963.4(SCN1A):c.4441_4442del (p.Val1481fs)
|
rs2105475874
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4444dup (p.Ile1482fs)
|
rs1573984004
|
|
NM_001165963.4(SCN1A):c.4446C>G (p.Ile1482Met)
|
rs398123596
|
|
NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=)
|
rs398123596
|
|
NM_001165963.4(SCN1A):c.4449A>G (p.Ile1483Met)
|
|
|
NM_001165963.4(SCN1A):c.4451A>C (p.Asp1484Ala)
|
rs1553522339
|
|
NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp)
|
rs1553522331
|
|
NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser)
|
|
|
NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs)
|
rs1553522321
|
|
NM_001165963.4(SCN1A):c.4468A>G (p.Lys1490Glu)
|
rs1553522306
|
|
NM_001165963.4(SCN1A):c.4473del (p.Lys1492fs)
|
rs2105475598
|
|
NM_001165963.4(SCN1A):c.4474A>G (p.Lys1492Glu)
|
rs1553522287
|
|
NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter)
|
|
|
NM_001165963.4(SCN1A):c.4476+14del
|
|
|
NM_001165963.4(SCN1A):c.4476+16A>G
|
|
|
NM_001165963.4(SCN1A):c.4476+1A>C
|
|
|
NM_001165963.4(SCN1A):c.4476+1A>G
|
rs796053014
|
|
NM_001165963.4(SCN1A):c.4476+2T>C
|
|
|
NM_001165963.4(SCN1A):c.4476+5G>A
|
rs1553522266
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4476_4476+2del
|
|
|
NM_001165963.4(SCN1A):c.4477-11C>T
|
rs775315152
|
|
NM_001165963.4(SCN1A):c.4477-1C>T
|
rs1553521567
|
|
NM_001165963.4(SCN1A):c.4477-20T>C
|
rs2105463114
|
|
NM_001165963.4(SCN1A):c.4477-2A>G
|
rs863225036
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4477-3T>C
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4477-4A>G
|
rs2105462878
|
|
NM_001165963.4(SCN1A):c.4477-7T>G
|
rs2105462945
|
|
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)
|
rs2105462778
|
|
NM_001165963.4(SCN1A):c.4482A>G (p.Gly1494=)
|
rs2105462751
|
|
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro)
|
rs2105462677
|
|
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
|
|
|
NM_001165963.4(SCN1A):c.4490del (p.Asp1497fs)
|
rs1690011364
|
|
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr)
|
rs745687892
|
|
NM_001165963.4(SCN1A):c.4501_4502insGAGAAGAA (p.Thr1501fs)
|
|
|
NM_001165963.4(SCN1A):c.4503A>C (p.Thr1501=)
|
rs1326158259
|
|
NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys)
|
|
|
NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys)
|
rs1553521530
|
|
NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs)
|
|
|
NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4513A>C (p.Lys1505Gln)
|
|
|
NM_001165963.4(SCN1A):c.4514A>T (p.Lys1505Met)
|
|
|
NM_001165963.4(SCN1A):c.4515_4516del (p.Lys1506fs)
|
rs2105462303
|
|
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.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)
|
rs796053019
|
|
NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer)
|
rs1690001575
|
|
NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter)
|
|
|
NM_001165963.4(SCN1A):c.4539A>G (p.Lys1513=)
|
rs2105462034
|
|
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
|
rs1573973548
|
|
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
|
|
|
NM_001165963.4(SCN1A):c.4540T>C (p.Leu1514=)
|
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg)
|
rs796053020
|
|
NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg)
|
rs796053020
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp)
|
rs139300715
|
|
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.4552A>C (p.Lys1518Gln)
|
rs1689995442
|
|
NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4555C>G (p.Pro1519Ala)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg)
|
rs372425457
|
|
NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs)
|
|
|
NM_001165963.4(SCN1A):c.4563_4581+39del
|
rs1559114202
|
|
NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs)
|
rs1689992185
|
|
NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser)
|
rs143088184
|
|
NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs)
|
rs1689990205
|
|
NM_001165963.4(SCN1A):c.4573C>A (p.Arg1525=)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.4573_4581del (p.Arg1525_Gly1527del)
|
|
|
NM_001165963.4(SCN1A):c.4574G>C (p.Arg1525Pro)
|
rs1559114408
|
|
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)
|
rs796053022
|
|
NM_001165963.4(SCN1A):c.4578A>G (p.Pro1526=)
|
|
|
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu)
|
rs751929295
|
|
NM_001165963.4(SCN1A):c.4581+11T>C
|
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4581+1G>A
|
rs1689986058
|
|
NM_001165963.4(SCN1A):c.4581+2del
|
rs1689985819
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4581+7A>G
|
rs1689984075
|
|
NM_001165963.4(SCN1A):c.4582-14C>A
|
|
|
NM_001165963.4(SCN1A):c.4582-1G>C
|
rs2105449923
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4582-3C>G
|
rs747649993
|
|
NM_001165963.4(SCN1A):c.4582-9del
|
rs1689727784
|
|
NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp)
|
rs794727398
|
|
NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys)
|
rs398123597
|
|
NM_001165963.4(SCN1A):c.4584C>T (p.Asn1528=)
|
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001165963.4(SCN1A):c.4590T>G (p.Phe1530Leu)
|
|
|
NM_001165963.4(SCN1A):c.4594G>A (p.Gly1532Arg)
|
rs1553521078
|
|
NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter)
|
|
|
NM_001165963.4(SCN1A):c.4598T>A (p.Met1533Lys)
|
rs1689722313
|
|
NM_001165963.4(SCN1A):c.4599G>T (p.Met1533Ile)
|
rs2105449769
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=)
|
|
|
NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer)
|
rs794726757
|
|
NM_001165963.4(SCN1A):c.4620A>T (p.Arg1540Ser)
|
|
|
NM_001165963.4(SCN1A):c.4622A>G (p.Gln1541Arg)
|
|
|
NM_001165963.4(SCN1A):c.4624G>A (p.Val1542Ile)
|
|
|
NM_001165963.4(SCN1A):c.4629T>C (p.Phe1543=)
|
rs1329723137
|
|
NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly)
|
rs1573964628
|
|
NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=)
|
rs1057521371
|
|
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)
|
rs121917975
|
|
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)
|
rs2105449347
|
|
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
|
|
|
NM_001165963.4(SCN1A):c.4637G>A (p.Ser1546Asn)
|
|
|
NM_001165963.4(SCN1A):c.4650C>T (p.Leu1550=)
|
rs2105449280
|
|
NM_001165963.4(SCN1A):c.4651A>C (p.Ile1551Leu)
|
rs1553521053
|
|
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe)
|
rs1553521053
|
|
NM_001165963.4(SCN1A):c.4653C>G (p.Ile1551Met)
|
rs2105449247
|
|
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
|
|
|
NM_001165963.4(SCN1A):c.4656T>A (p.Cys1552Ter)
|
rs1553521051
|
|
NM_001165963.4(SCN1A):c.4662C>A (p.Asn1554Lys)
|
rs1689710741
|
|
NM_001165963.4(SCN1A):c.4663A>G (p.Met1555Val)
|
rs2105449182
|
|
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
|
|
|
NM_001165963.4(SCN1A):c.4673T>A (p.Met1558Lys)
|
|
|
NM_001165963.4(SCN1A):c.4674G>T (p.Met1558Ile)
|
rs796053023
|
|
NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg)
|
rs1689707865
|
|
NM_001165963.4(SCN1A):c.4680G>A (p.Val1560=)
|
rs1014933161
|
|
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys)
|
rs796053024
|
|
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly)
|
rs1573964264
|
|
NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs)
|
rs1559110846
|
|
NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter)
|
rs1386425283
|
|
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys)
|
rs1037225738
|
|
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
|
rs1573963975
|
|
NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs)
|
|
|
NM_001165963.4(SCN1A):c.4712C>A (p.Thr1571Asn)
|
rs112547129
|
|
NM_001165963.4(SCN1A):c.4724G>C (p.Arg1575Pro)
|
rs368834365
|
|
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val)
|
rs1689696329
|
|
NM_001165963.4(SCN1A):c.4727T>A (p.Ile1576Asn)
|
rs2105448524
|
|
NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=)
|
rs758734319
|
|
NM_001165963.4(SCN1A):c.4736T>C (p.Val1579Ala)
|
|
|
NM_001165963.4(SCN1A):c.4736T>G (p.Val1579Gly)
|
|
|
NM_001165963.4(SCN1A):c.4739T>G (p.Phe1580Cys)
|
rs1689693509
|
|
NM_001165963.4(SCN1A):c.4748T>A (p.Leu1583Gln)
|
|
|
NM_001165963.4(SCN1A):c.4749A>T (p.Leu1583=)
|
rs2105448280
|
|
NM_001165963.4(SCN1A):c.4750T>C (p.Phe1584Leu)
|
|
|
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu)
|
rs121918742
|
|
NM_001165963.4(SCN1A):c.4758A>T (p.Gly1586=)
|
|
|
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
|
|
|
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.4766T>G (p.Val1589Gly)
|
rs764037830
|
|
NM_001165963.4(SCN1A):c.4767A>C (p.Val1589=)
|
|
|
NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro)
|
|
|
NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg)
|
|
|
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)
|
rs1689684958
|
|
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro)
|
rs2105447944
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
|
|
|
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.4788C>A (p.Arg1596=)
|
rs762836573
|
|
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)
|
rs1689680658
|
|
NM_001165963.4(SCN1A):c.4793A>G (p.Tyr1598Cys)
|
rs377325221
|
|
NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp)
|
rs1689679432
|
|
NM_001165963.4(SCN1A):c.4799T>A (p.Phe1600Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala)
|
rs1573963046
|
|
NM_001165963.4(SCN1A):c.4803C>A (p.Thr1601=)
|
|
|
NM_001165963.4(SCN1A):c.4805T>C (p.Ile1602Thr)
|
|
|
NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter)
|
rs761333438
|
|
NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter)
|
rs794726800
|
|
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs)
|
rs794726785
|
|
NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs)
|
rs794726850
|
|
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe)
|
rs121918630
|
|
NM_001165963.4(SCN1A):c.4833dup (p.Val1612fs)
|
|
|
NM_001165963.4(SCN1A):c.4834G>T (p.Val1612Phe)
|
|
|
NM_001165963.4(SCN1A):c.4843T>A (p.Ser1615Thr)
|
rs2105447300
|
|
NM_001165963.4(SCN1A):c.4843T>C (p.Ser1615Pro)
|
rs2105447300
|
|
NM_001165963.4(SCN1A):c.4844C>T (p.Ser1615Phe)
|
rs2105447276
|
|
NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr)
|
rs2105447247
|
|
NM_001165963.4(SCN1A):c.4852+11T>G
|
rs746573662
|
|
NM_001165963.4(SCN1A):c.4852+17G>T
|
|
|
NM_001165963.4(SCN1A):c.4852+1G>A
|
rs1573962555
|
|
NM_001165963.4(SCN1A):c.4852+1G>T
|
rs1573962555
|
|
NM_001165963.4(SCN1A):c.4852+2T>C
|
|
|
NM_001165963.4(SCN1A):c.4852+5G>C
|
|
|
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)
|
rs2105447216
|
|
NM_001165963.4(SCN1A):c.4852G>C (p.Gly1618Arg)
|
|
|
NM_001165963.4(SCN1A):c.4853-12G>A
|
rs2105435765
|
|
NM_001165963.4(SCN1A):c.4853-13T>C
|
|
|
NM_001165963.4(SCN1A):c.4853-13del
|
rs1689384635
|
|
NM_001165963.4(SCN1A):c.4853-16C>T
|
|
|
NM_001165963.4(SCN1A):c.4853-1G>C
|
rs1553520530
|
|
NM_001165963.4(SCN1A):c.4854_4855insTA (p.Met1619Ter)
|
|
|
NM_001165963.4(SCN1A):c.4855_4858dup (p.Phe1620fs)
|
|
|
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu)
|
rs1689381070
|
|
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu)
|
rs2105435603
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.4863T>A (p.Leu1621=)
|
rs2105435563
|
|
NM_001165963.4(SCN1A):c.4867G>A (p.Glu1623Lys)
|
|
|
NM_001165963.4(SCN1A):c.4875_4918dup (p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer)
|
rs2105434895
|
|
NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)
|
|
|
NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter)
|
rs794726701
|
|
NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met)
|
|
|
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
|
|
|
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)
|
rs121917914
|
|
NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu)
|
|
|
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
|
|
|
NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser)
|
rs121918755
|
|
NM_001165963.4(SCN1A):c.4897A>C (p.Thr1633Pro)
|
|
|
NM_001165963.4(SCN1A):c.4900C>G (p.Leu1634Val)
|
rs1211903272
|
|
NM_001165963.4(SCN1A):c.4901T>G (p.Leu1634Arg)
|
|
|
NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer)
|
|
|
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
|
|
|
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)
|
rs199727342
|
|
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)
|
rs121917995
|
|
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
|
|
|
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
|
|
|
NM_001165963.4(SCN1A):c.4910T>C (p.Val1637Ala)
|
rs121918810
|
|
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly)
|
rs1573953030
|
|
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
|
|
|
NM_001165963.4(SCN1A):c.4915del (p.Arg1639fs)
|
|
|
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)
|
rs796053029
|
|
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe)
|
rs1553520463
|
|
NM_001165963.4(SCN1A):c.4919T>A (p.Leu1640His)
|
rs2105434860
|
|
NM_001165963.4(SCN1A):c.4920T>C (p.Leu1640=)
|
rs1573952959
|
|
NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr)
|
rs2105434822
|
|
NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met)
|
rs1573952908
|
|
NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser)
|
rs1131691581
|
|
NM_001165963.4(SCN1A):c.4930G>A (p.Gly1644Ser)
|
|
|
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.4934G>C (p.Arg1645Pro)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4938C>T (p.Ile1646=)
|
|
|
NM_001165963.4(SCN1A):c.4940T>C (p.Leu1647Pro)
|
|
|
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.4952A>C (p.Lys1651Thr)
|
rs1553520446
|
|
NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=)
|
|
|
NM_001165963.4(SCN1A):c.4955G>A (p.Gly1652Glu)
|
rs1573952568
|
|
NM_001165963.4(SCN1A):c.4958C>A (p.Ala1653Glu)
|
rs2105434461
|
|
NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val)
|
|
|
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg)
|
rs1689350809
|
|
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
|
|
|
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala)
|
rs1553520439
|
|
NM_001165963.4(SCN1A):c.4964_4965del (p.Gly1655fs)
|
rs1573952473
|
|
NM_001165963.4(SCN1A):c.4965G>A (p.Gly1655=)
|
|
|
NM_001165963.4(SCN1A):c.4966_4969dup (p.Arg1657fs)
|
rs2105434276
|
|
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met)
|
rs121917955
|
|
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
|
|
|
NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs)
|
rs1689347935
|
|
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)
|
rs121917994
|
|
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
|
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
|
|
|
NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro)
|
rs1559105368
|
|
NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro)
|
rs1131691675
|
|
NM_001165963.4(SCN1A):c.4980_4981del (p.Phe1661fs)
|
rs1559105301
|
|
NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser)
|
rs121918797
|
|
NM_001165963.4(SCN1A):c.4984_4986del (p.Ala1662del)
|
|
|
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)
|
rs794726839
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs)
|
rs794726819
|
|
NM_001165963.4(SCN1A):c.4994T>C (p.Met1665Thr)
|
rs2105433922
|
|
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)
|
rs796053031
|
|
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
|
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro)
|
rs1131691774
|
|
NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala)
|
rs121917948
|
|
NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg)
|
rs794726698
|
|
NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu)
|
|
|
NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs)
|
rs794726758
|
|
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)
|
rs397514458
|
|
NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val)
|
rs397514458
|
|
NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=)
|
|
|
NM_001165963.4(SCN1A):c.5010G>A (p.Leu1670=)
|
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5012T>C (p.Phe1671Ser)
|
|
|
NM_001165963.4(SCN1A):c.5013dup (p.Asn1672Ter)
|
|
|
NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His)
|
rs794726740
|
|
NM_001165963.4(SCN1A):c.5016del (p.Asn1672fs)
|
rs2105433569
|
|
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val)
|
rs375651364
|
|
NM_001165963.4(SCN1A):c.5019C>A (p.Ile1673=)
|
rs757002972
|
|
NM_001165963.4(SCN1A):c.5019C>T (p.Ile1673=)
|
rs757002972
|
|
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=)
|
rs1689327411
|
|
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
|
|
|
NM_001165963.4(SCN1A):c.5027T>C (p.Leu1676Pro)
|
|
|
NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe)
|
rs2105433326
|
|
NM_001165963.4(SCN1A):c.5032T>C (p.Phe1678Leu)
|
|
|
NM_001165963.4(SCN1A):c.5035del (p.Phe1678_Leu1679insTer)
|
|
|
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)
|
rs2105433264
|
|
NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp)
|
rs1553520380
|
|
NM_001165963.4(SCN1A):c.5045del (p.Phe1682fs)
|
rs2105433161
|
|
NM_001165963.4(SCN1A):c.5046C>A (p.Phe1682Leu)
|
rs1201126725
|
|
NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr)
|
rs2105433108
|
|
NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys)
|
rs1689321394
|
|
NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter)
|
rs1433806086
|
|
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
|
|
|
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5053_5054delinsTT (p.Ala1685Phe)
|
rs2105433023
|
|
NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val)
|
rs121918744
|
|
NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg)
|
rs2105432939
|
|
NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val)
|
rs794726851
|
|
NM_001165963.4(SCN1A):c.5064G>A (p.Gly1688=)
|
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5068T>C (p.Ser1690Pro)
|
|
|
NM_001165963.4(SCN1A):c.5071A>G (p.Asn1691Asp)
|
|
|
NM_001165963.4(SCN1A):c.5072A>G (p.Asn1691Ser)
|
|
|
NM_001165963.4(SCN1A):c.5073C>T (p.Asn1691=)
|
|
|
NM_001165963.4(SCN1A):c.5074T>A (p.Phe1692Ile)
|
rs1689313945
|
|
NM_001165963.4(SCN1A):c.5074T>G (p.Phe1692Val)
|
rs1689313945
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp)
|
rs2105432780
|
|
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)
|
rs121918777
|
|
NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter)
|
rs794726748
|
|
NM_001165963.4(SCN1A):c.5085T>G (p.Val1695=)
|
rs2105432702
|
|
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)
|
rs1689309551
|
|
NM_001165963.4(SCN1A):c.5096T>C (p.Val1699Ala)
|
|
|
NM_001165963.4(SCN1A):c.5099G>A (p.Gly1700Glu)
|
rs1689305230
|
|
NM_001165963.4(SCN1A):c.5100G>A (p.Gly1700=)
|
rs1689304358
|
|
NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=)
|
|
|
NM_001165963.4(SCN1A):c.5104G>C (p.Asp1702His)
|
|
|
NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu)
|
rs794726804
|
|
NM_001165963.4(SCN1A):c.5108A>G (p.Asp1703Gly)
|
|
|
NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val)
|
rs794726802
|
|
NM_001165963.4(SCN1A):c.5108del (p.Asp1703fs)
|
rs1689300152
|
|
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr)
|
rs1689298888
|
|
NM_001165963.4(SCN1A):c.5112G>A (p.Met1704Ile)
|
rs2105432342
|
|
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
|
rs1689298277
|
|
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr)
|
rs1553520340
|
|
NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val)
|
rs121917977
|
|
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys)
|
|
|
NM_001165963.4(SCN1A):c.5123A>T (p.Glu1708Val)
|
rs2105432174
|
|
NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=)
|
|
|
NM_001165963.4(SCN1A):c.5125A>G (p.Thr1709Ala)
|
rs1573950349
|
|
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=)
|
rs777044331
|
|
NM_001165963.4(SCN1A):c.5128T>G (p.Phe1710Val)
|
|
|
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)
|
rs1689294239
|
|
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)
|
rs796053098
|
|
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
|
|
|
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys)
|
rs2105432013
|
|
NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn)
|
rs121918816
|
|
NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile)
|
rs121918816
|
|
NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg)
|
rs121917949
|
|
NM_001165963.4(SCN1A):c.5143A>T (p.Ile1715Phe)
|
|
|
NM_001165963.4(SCN1A):c.5144T>C (p.Ile1715Thr)
|
|
|
NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met)
|
rs1559104174
|
|
NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg)
|
rs121917926
|
|
NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg)
|
|
|
NM_001165963.4(SCN1A):c.5152T>C (p.Phe1718Leu)
|
|
|
NM_001165963.4(SCN1A):c.5155C>G (p.Gln1719Glu)
|
|
|
NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His)
|
rs1689285717
|
|
NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val)
|
|
|
NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg)
|
rs121917978
|
|
NM_001165963.4(SCN1A):c.5162C>T (p.Thr1721Ile)
|
|
|
NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro)
|
rs1553520320
|
|
NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr)
|
|
|
NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val)
|
rs1553520319
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp)
|
rs1553520318
|
|
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)
|
|
|
NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg)
|
rs121917979
|
|
NM_001165963.4(SCN1A):c.5176T>G (p.Trp1726Gly)
|
rs121917979
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His)
|
rs1689278461
|
|
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr)
|
rs1689278461
|
|
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
|
rs1689278062
|
|
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg)
|
rs1238612161
|
|
NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg)
|
|
|
NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs)
|
rs1553520298
|
|
NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu)
|
rs2105431330
|
|
NM_001165963.4(SCN1A):c.5183G>C (p.Gly1728Ala)
|
|
|
NM_001165963.4(SCN1A):c.5187G>T (p.Leu1729Phe)
|
rs747155595
|
|
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)
|
rs796053100
|
|
NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu)
|
rs2105431242
|
|
NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=)
|
|
|
NM_001165963.4(SCN1A):c.5198_5201dup (p.Asn1735fs)
|
rs2105431162
|
|
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.5209_5210del (p.Lys1737fs)
|
rs2105431024
|
|
NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs)
|
rs1689272728
|
|
NM_001165963.4(SCN1A):c.5215C>G (p.Pro1739Ala)
|
|
|
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)
|
rs1689271992
|
|
NM_001165963.4(SCN1A):c.5216C>G (p.Pro1739Arg)
|
rs1689271621
|
|
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
|
rs1573949198
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser)
|
rs794726763
|
|
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr)
|
rs528239871
|
|
NM_001165963.4(SCN1A):c.5225A>C (p.Asp1742Ala)
|
rs121918812
|
|
NM_001165963.4(SCN1A):c.5227C>T (p.Pro1743Ser)
|
|
|
NM_001165963.4(SCN1A):c.5235A>G (p.Lys1745=)
|
rs1689266758
|
|
NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=)
|
rs2105430607
|
|
NM_001165963.4(SCN1A):c.5241C>A (p.Asn1747Lys)
|
rs2105430589
|
|
NM_001165963.4(SCN1A):c.5243C>G (p.Pro1748Arg)
|
rs1689265965
|
|
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)
|
rs1057518258
|
|
NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu)
|
rs121918798
|
|
NM_001165963.4(SCN1A):c.5249G>A (p.Ser1750Asn)
|
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5250C>T (p.Ser1750=)
|
rs1689264252
|
|
NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs)
|
rs794726702
|
|
NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg)
|
rs794726703
|
|
NM_001165963.4(SCN1A):c.5255T>G (p.Val1752Gly)
|
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala)
|
|
|
NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)
|
|
|
NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr)
|
rs927722314
|
|
NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly)
|
rs794726722
|
|
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
|
|
|
NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly)
|
rs121918809
|
|
NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr)
|
rs1559103294
|
|
NM_001165963.4(SCN1A):c.5269G>A (p.Gly1757Arg)
|
rs1553520227
|
|
NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg)
|
rs1553520227
|
|
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.5273_5277delinsT (p.Asn1758fs)
|
|
|
NM_001165963.4(SCN1A):c.5276C>T (p.Pro1759Leu)
|
|
|
NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro)
|
|
|
NM_001165963.4(SCN1A):c.5281_5282del (p.Val1761fs)
|
|
|
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala)
|
rs1057518252
|
|
NM_001165963.4(SCN1A):c.5283T>G (p.Val1761=)
|
rs1573948237
|
|
NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs)
|
rs794726814
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu)
|
rs1573948129
|
|
NM_001165963.4(SCN1A):c.5289T>A (p.Ile1763=)
|
|
|
NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)
|
rs1689251604
|
|
NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser)
|
|
|
NM_001165963.4(SCN1A):c.5296_5298del (p.Phe1766del)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs)
|
rs794726832
|
|
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
|
|
|
NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp)
|
rs2105429648
|
|
NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly)
|
rs2105429627
|
|
NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=)
|
|
|
NM_001165963.4(SCN1A):c.5305T>C (p.Tyr1769His)
|
|
|
NM_001165963.4(SCN1A):c.5306A>C (p.Tyr1769Ser)
|
rs886039460
|
|
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
|
rs1573947939
|
|
NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn)
|
|
|
NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser)
|
rs1253117981
|
|
NM_001165963.4(SCN1A):c.5313C>T (p.Ile1771=)
|
|
|
NM_001165963.4(SCN1A):c.5315_5316insC (p.Ser1773fs)
|
rs2105429444
|
|
NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met)
|
|
|
NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro)
|
|
|
NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe)
|
rs121917951
|
|
NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser)
|
|
|
NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu)
|
|
|
NM_001165963.4(SCN1A):c.5323del (p.Leu1775fs)
|
|
|
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro)
|
rs2105429381
|
|
NM_001165963.4(SCN1A):c.5329G>A (p.Val1777Met)
|
|
|
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)
|
rs1689245014
|
|
NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs)
|
rs794726783
|
|
NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp)
|
rs794727416
|
|
NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr)
|
rs121917952
|
|
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)
|
rs1689242255
|
|
NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys)
|
rs121918779
|
|
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)
|
rs1689241423
|
|
NM_001165963.4(SCN1A):c.5344A>C (p.Ile1782Leu)
|
rs1689240616
|
|
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
|
|
|
NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met)
|
rs121918763
|
|
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.5349_5352dup (p.Ile1785fs)
|
rs794726741
|
|
NM_001165963.4(SCN1A):c.5350G>C (p.Val1784Leu)
|
|
|
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5352C>T (p.Val1784=)
|
|
|
NM_001165963.4(SCN1A):c.5353A>T (p.Ile1785Phe)
|
rs1689237157
|
|
NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys)
|
rs121917916
|
|
NM_001165963.4(SCN1A):c.5359G>C (p.Glu1787Gln)
|
rs121917916
|
|
NM_001165963.4(SCN1A):c.5361G>A (p.Glu1787=)
|
rs796053038
|
|
NM_001165963.4(SCN1A):c.5371G>T (p.Val1791Phe)
|
rs2105428742
|
|
NM_001165963.4(SCN1A):c.5371_5372del (p.Val1791fs)
|
rs2105428710
|
|
NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr)
|
rs2105428686
|
|
NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile)
|
|
|
NM_001165963.4(SCN1A):c.5379T>C (p.Thr1793=)
|
rs1553520152
|
|
NM_001165963.4(SCN1A):c.5379del (p.Glu1794fs)
|
rs2105428629
|
|
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.5383G>T (p.Glu1795Ter)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5392G>A (p.Glu1798Lys)
|
rs1689226880
|
|
NM_001165963.4(SCN1A):c.5395C>T (p.Pro1799Ser)
|
|
|
NM_001165963.4(SCN1A):c.5396C>A (p.Pro1799His)
|
rs1689226274
|
|
NM_001165963.4(SCN1A):c.5396C>G (p.Pro1799Arg)
|
rs1689226274
|
|
NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg)
|
rs2105428344
|
|
NM_001165963.4(SCN1A):c.5399del (p.Leu1800fs)
|
rs1573946994
|
|
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)
|
rs794726780
|
|
NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter)
|
rs794726780
|
|
NM_001165963.4(SCN1A):c.5410G>A (p.Asp1804Asn)
|
rs2105428229
|
|
NM_001165963.4(SCN1A):c.5412C>A (p.Asp1804Glu)
|
|
|
NM_001165963.4(SCN1A):c.5414T>C (p.Phe1805Ser)
|
rs1689222238
|
|
NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu)
|
rs121918757
|
|
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del)
|
rs2105428012
|
|
NM_001165963.4(SCN1A):c.5426del (p.Tyr1809fs)
|
rs1689218857
|
|
NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=)
|
|
|
NM_001165963.4(SCN1A):c.5428G>A (p.Glu1810Lys)
|
rs1218205706
|
|
NM_001165963.4(SCN1A):c.5430G>T (p.Glu1810Asp)
|
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.5435G>C (p.Trp1812Ser)
|
rs796053040
|
|
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
|
|
|
NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter)
|
rs863225037
|
|
NM_001165963.4(SCN1A):c.5440_5442del (p.Lys1814del)
|
rs2105427845
|
|
NM_001165963.4(SCN1A):c.5442G>A (p.Lys1814=)
|
rs144595013
|
|
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu)
|
rs1689211960
|
|
NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser)
|
rs1689211569
|
|
NM_001165963.4(SCN1A):c.5448T>A (p.Asp1816Glu)
|
|
|
NM_001165963.4(SCN1A):c.5450C>A (p.Pro1817His)
|
|
|
NM_001165963.4(SCN1A):c.5455G>A (p.Ala1819Thr)
|
|
|
NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser)
|
|
|
NM_001165963.4(SCN1A):c.5456C>G (p.Ala1819Gly)
|
|
|
NM_001165963.4(SCN1A):c.5457A>T (p.Ala1819=)
|
|
|
NM_001165963.4(SCN1A):c.5459C>T (p.Thr1820Ile)
|
|
|
NM_001165963.4(SCN1A):c.5461C>A (p.Gln1821Lys)
|
|
|
NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter)
|
rs794726781
|
|
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)
|
rs1559101839
|
|
NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter)
|
rs794726769
|
|
NM_001165963.4(SCN1A):c.5474T>G (p.Phe1825Cys)
|
rs749198402
|
|
NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter)
|
rs1553520107
|
|
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter)
|
rs1553520105
|
|
NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs)
|
|
|
NM_001165963.4(SCN1A):c.5485_5489del (p.Ser1829fs)
|
|
|
NM_001165963.4(SCN1A):c.5486C>G (p.Ser1829Cys)
|
rs2105427253
|
|
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter)
|
rs1553520103
|
|
NM_001165963.4(SCN1A):c.5488_5489del (p.Gln1830fs)
|
rs1689200375
|
|
NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs)
|
rs1573945872
|
|
NM_001165963.4(SCN1A):c.5490G>A (p.Gln1830=)
|
|
|
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5494G>T (p.Ala1832Ser)
|
rs2105427084
|
|
NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs)
|
rs1559101585
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe)
|
|
|
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter)
|
rs1064795579
|
|
NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu)
|
|
|
NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val)
|
rs794726801
|
|
NM_001165963.4(SCN1A):c.5522T>C (p.Leu1841Pro)
|
rs2105426709
|
|
NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter)
|
rs1553520078
|
|
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr)
|
rs1689190343
|
|
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs)
|
rs2105426446
|
|
NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter)
|
rs2105426467
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5551G>T (p.Ala1851Ser)
|
rs1689185359
|
|
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
|
|
|
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr)
|
rs121918783
|
|
NM_001165963.4(SCN1A):c.5560T>C (p.Leu1854=)
|
rs1452952636
|
|
NM_001165963.4(SCN1A):c.5561T>C (p.Leu1854Ser)
|
rs2105426177
|
|
NM_001165963.4(SCN1A):c.5561dup (p.Leu1854fs)
|
rs2105426198
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His)
|
|
|
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg)
|
|
|
NM_001165963.4(SCN1A):c.5569del (p.Met1856_Val1857insTer)
|
|
|
NM_001165963.4(SCN1A):c.5576G>C (p.Gly1859Ala)
|
rs2105425879
|
|
NM_001165963.4(SCN1A):c.5576del (p.Gly1859fs)
|
rs2105425898
|
|
NM_001165963.4(SCN1A):c.5579A>C (p.Asp1860Ala)
|
rs1689179203
|
|
NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=)
|
|
|
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)
|
rs760906812
|
|
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)
|
rs796053042
|
|
NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser)
|
|
|
NM_001165963.4(SCN1A):c.5594_5595dup (p.Asp1866fs)
|
rs2105425687
|
|
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly)
|
rs1553520029
|
|
NM_001165963.4(SCN1A):c.5598T>C (p.Asp1866=)
|
rs2105425631
|
|
NM_001165963.4(SCN1A):c.5599A>G (p.Ile1867Val)
|
|
|
NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs)
|
rs2105425501
|
|
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.5610T>G (p.Ala1870=)
|
|
|
NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs)
|
|
|
NM_001165963.4(SCN1A):c.5613del (p.Phe1871fs)
|
|
|
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)
|
rs1060502186
|
|
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.5634G>A (p.Glu1878=)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.5634G>T (p.Glu1878Asp)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.5636G>A (p.Ser1879Asn)
|
|
|
NM_001165963.4(SCN1A):c.5636del (p.Ser1879fs)
|
rs2105425094
|
|
NM_001165963.4(SCN1A):c.5639G>C (p.Gly1880Ala)
|
rs201905405
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NM_001165963.4(SCN1A):c.5643G>A (p.Glu1881=)
|
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NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp)
|
rs121918804
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|
NM_001165963.4(SCN1A):c.5645T>C (p.Met1882Thr)
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|
|
NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter)
|
rs779614747
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NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
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NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter)
|
rs794726845
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|
NM_001165963.4(SCN1A):c.5662_5663del (p.Gln1888fs)
|
rs2105424748
|
|
NM_001165963.4(SCN1A):c.5664G>A (p.Gln1888=)
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NM_001165963.4(SCN1A):c.5666T>C (p.Met1889Thr)
|
rs1197551054
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NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg)
|
rs1197551054
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|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.5675G>A (p.Arg1892Gln)
|
rs2105424575
|
|
NM_001165963.4(SCN1A):c.5675G>T (p.Arg1892Leu)
|
rs2105424575
|
|
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.5688C>T (p.Ser1896=)
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|
|
NM_001165963.4(SCN1A):c.5697del (p.Lys1900fs)
|
rs1689156608
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NM_001165963.4(SCN1A):c.5699A>G (p.Lys1900Arg)
|
|
|
NM_001165963.4(SCN1A):c.5701G>A (p.Val1901Ile)
|
rs1689155302
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NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly)
|
rs1559100042
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NM_001165963.4(SCN1A):c.5704T>C (p.Ser1902Pro)
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|
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NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs)
|
rs796053086
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NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter)
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|
|
NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter)
|
rs796053103
|
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NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val)
|
rs1689151041
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NM_001165963.4(SCN1A):c.5717T>A (p.Ile1906Asn)
|
rs1689150507
|
|
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del)
|
rs1553519902
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
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NM_001165963.4(SCN1A):c.5731A>G (p.Lys1911Glu)
|
rs1553519896
|
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NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly)
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|
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NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)
|
rs77216276
|
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NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=)
|
rs554861427
|
|
NM_001165963.4(SCN1A):c.5751A>G (p.Val1917=)
|
rs1173785519
|
|
NM_001165963.4(SCN1A):c.5753C>A (p.Ser1918Tyr)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs)
|
rs1553519872
|
|
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)
|
rs1689142827
|
|
NM_001165963.4(SCN1A):c.5757_5770del (p.Val1920fs)
|
|
|
NM_001165963.4(SCN1A):c.5761A>T (p.Ile1921Phe)
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|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
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NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys)
|
rs1553519865
|
|
NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter)
|
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
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NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5770C>T (p.Arg1924Cys)
|
|
|
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
|
|
|
NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys)
|
rs376669368
|
|
NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr)
|
rs794726737
|
|
NM_001165963.4(SCN1A):c.5781A>G (p.Arg1927=)
|
rs2105423230
|
|
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
|
rs1689136140
|
|
NM_001165963.4(SCN1A):c.5782C>A (p.Arg1928Ser)
|
rs121917956
|
|
NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys)
|
rs121917956
|
|
NM_001165963.4(SCN1A):c.5786A>G (p.His1929Arg)
|
|
|
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln)
|
rs371253263
|
|
NM_001165963.4(SCN1A):c.5789T>C (p.Leu1930Pro)
|
rs1689133956
|
|
NM_001165963.4(SCN1A):c.5792T>C (p.Leu1931Ser)
|
|
|
NM_001165963.4(SCN1A):c.5795del (p.Lys1932fs)
|
|
|
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=)
|
rs1351809843
|
|
NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter)
|
rs1351809843
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.5798G>C (p.Arg1933Pro)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.5804T>C (p.Val1935Ala)
|
rs1559099002
|
|
NM_001165963.4(SCN1A):c.5819T>A (p.Phe1940Tyr)
|
|
|
NM_001165963.4(SCN1A):c.5820T>C (p.Phe1940=)
|
rs2105422699
|
|
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)
|
rs756845310
|
|
NM_001165963.4(SCN1A):c.5841C>A (p.Ile1947=)
|
|
|
NM_001165963.4(SCN1A):c.5845G>T (p.Gly1949Cys)
|
rs1216022727
|
|
NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro)
|
rs376656165
|
|
NM_001165963.4(SCN1A):c.5855A>T (p.Asn1952Ile)
|
|
|
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)
|
rs1553519782
|
|
NM_001165963.4(SCN1A):c.5860C>T (p.Leu1954Phe)
|
rs1573941131
|
|
NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val)
|
|
|
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met)
|
rs796052952
|
|
NM_001165963.4(SCN1A):c.5869G>C (p.Glu1957Gln)
|
rs1553519769
|
|
NM_001165963.4(SCN1A):c.5872G>A (p.Asp1958Asn)
|
|
|
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
|
|
|
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr)
|
rs760676898
|
|
NM_001165963.4(SCN1A):c.5885A>G (p.Asp1962Gly)
|
rs1689109230
|
|
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
|
|
|
NM_001165963.4(SCN1A):c.5905_5908dup (p.Thr1970fs)
|
|
|
NM_001165963.4(SCN1A):c.5907T>C (p.Ile1969=)
|
|
|
NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=)
|
|
|
NM_001165963.4(SCN1A):c.5929A>G (p.Met1977Val)
|
|
|
NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr)
|
rs1553519733
|
|
NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe)
|
|
|
NM_001165963.4(SCN1A):c.5942C>A (p.Ala1981Asp)
|
rs148986284
|
|
NM_001165963.4(SCN1A):c.5957A>G (p.Tyr1986Cys)
|
rs1689099998
|
|
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)
|
rs756519197
|
|
NM_001165963.4(SCN1A):c.5971A>G (p.Lys1991Glu)
|
rs755419624
|
|
NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=)
|
|
|
NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)
|
|
|
NM_001165963.4(SCN1A):c.5983G>C (p.Glu1995Gln)
|
|
|
NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg)
|
rs1573939967
|
|
NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)
|
|
|
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)
|
rs886055041
|
|
NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=)
|
|
|
NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=)
|
|
|
NM_001165963.4(SCN1A):c.6006_6008del (p.Lys2002_Asp2003delinsAsn)
|
rs1689085952
|
|
NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=)
|
|
|
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu)
|
rs761426364
|
|