NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)
|
rs398123591
|
0.00001
|
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)
|
rs1559114408
|
0.00001
|
NM_001165963.4(SCN1A):c.5275C>T (p.Pro1759Ser)
|
rs1064794630
|
0.00001
|
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)
|
rs796053037
|
0.00001
|
NM_001165963.4(SCN1A):c.5421G>A (p.Met1807Ile)
|
rs1689220137
|
0.00001
|
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
|
|
|
NM_001165963.4(SCN1A):c.3429G>C (p.Glu1143Asp)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs)
|
rs1064794495
|
|
NM_001165963.4(SCN1A):c.3457G>T (p.Glu1153Ter)
|
rs1553534233
|
|
NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg)
|
rs1553532782
|
|
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)
|
rs796052997
|
|
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser)
|
rs1553531410
|
|
NM_001165963.4(SCN1A):c.3715G>C (p.Asp1239His)
|
rs2105594076
|
|
NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr)
|
rs1064795355
|
|
NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val)
|
rs794726841
|
|
NM_001165963.4(SCN1A):c.3820T>A (p.Tyr1274Asn)
|
rs2105592343
|
|
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp)
|
rs796053000
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3862G>C (p.Asp1288His)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3879+5G>A
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal)
|
rs1064795733
|
|
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val)
|
rs2105570494
|
|
NM_001165963.4(SCN1A):c.3938A>C (p.Lys1313Thr)
|
rs1064795239
|
|
NM_001165963.4(SCN1A):c.3953_3956del (p.Leu1318fs)
|
rs1064796964
|
|
NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile)
|
rs794726822
|
|
NM_001165963.4(SCN1A):c.4060T>C (p.Cys1354Arg)
|
rs1131691461
|
|
NM_001165963.4(SCN1A):c.4061G>C (p.Cys1354Ser)
|
rs1057521537
|
|
NM_001165963.4(SCN1A):c.4074G>T (p.Trp1358Cys)
|
rs1553525267
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4111G>C (p.Gly1371Arg)
|
rs1064795303
|
|
NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4172A>G (p.Asn1391Ser)
|
rs1553525062
|
|
NM_001165963.4(SCN1A):c.4192A>T (p.Lys1398Ter)
|
rs1553525023
|
|
NM_001165963.4(SCN1A):c.4255G>T (p.Gly1419Ter)
|
rs1085307893
|
|
NM_001165963.4(SCN1A):c.4262G>A (p.Gly1421Glu)
|
rs1064795756
|
|
NM_001165963.4(SCN1A):c.4280A>T (p.Gln1427Leu)
|
rs1057518062
|
|
NM_001165963.4(SCN1A):c.4304T>A (p.Met1435Lys)
|
rs796053009
|
|
NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr)
|
rs121917974
|
|
NM_001165963.4(SCN1A):c.4412C>A (p.Ser1471Tyr)
|
rs794726809
|
|
NM_001165963.4(SCN1A):c.4436T>C (p.Ile1479Thr)
|
|
|
NM_001165963.4(SCN1A):c.4438G>T (p.Gly1480Cys)
|
rs796053015
|
|
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)
|
rs1085307484
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4493T>A (p.Ile1498Asn)
|
rs796053017
|
|
NM_001165963.4(SCN1A):c.4511A>T (p.Gln1504Leu)
|
rs796053018
|
|
NM_001165963.4(SCN1A):c.4532T>G (p.Met1511Arg)
|
rs1553521507
|
|
NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg)
|
rs796053022
|
|
NM_001165963.4(SCN1A):c.4581+2T>A
|
rs886039457
|
|
NM_001165963.4(SCN1A):c.4581+2T>C
|
rs886039457
|
|
NM_001165963.4(SCN1A):c.4630G>C (p.Asp1544His)
|
rs1131691367
|
|
NM_001165963.4(SCN1A):c.4667T>C (p.Val1556Ala)
|
|
|
NM_001165963.4(SCN1A):c.4701A>G (p.Glu1567=)
|
rs796053025
|
|
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.4830_4836delinsAGGTAATGG (p.Val1611fs)
|
rs1573962628
|
|
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
|
|
|
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)
|
rs796053029
|
|
NM_001165963.4(SCN1A):c.4926G>T (p.Arg1642Ser)
|
rs1131691581
|
|
NM_001165963.4(SCN1A):c.4954G>T (p.Gly1652Ter)
|
rs1553520442
|
|
NM_001165963.4(SCN1A):c.4965del (p.Ile1656fs)
|
rs1573952473
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)
|
rs796053031
|
|
NM_001165963.4(SCN1A):c.4999C>T (p.Leu1667Phe)
|
rs796053032
|
|
NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro)
|
rs1131691774
|
|
NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr)
|
rs2105433516
|
|
NM_001165963.4(SCN1A):c.5018_5019delinsAG (p.Ile1673Lys)
|
rs1553520404
|
|
NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser)
|
rs121918792
|
|
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5104G>T (p.Asp1702Tyr)
|
rs748333147
|
|
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5121T>G (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)
|
rs796053098
|
|
NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala)
|
rs1553520321
|
|
NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe)
|
rs796053099
|
|
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)
|
rs796053100
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg)
|
rs1057518258
|
|
NM_001165963.4(SCN1A):c.5261G>T (p.Gly1754Val)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu)
|
rs1085307930
|
|
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala)
|
rs1057518252
|
|
NM_001165963.4(SCN1A):c.5294T>G (p.Phe1765Cys)
|
rs1553520199
|
|
NM_001165963.4(SCN1A):c.5299del (p.Val1767fs)
|
rs1553520197
|
|
NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys)
|
rs886039460
|
|
NM_001165963.4(SCN1A):c.5338A>G (p.Met1780Val)
|
rs1085307945
|
|
NM_001165963.4(SCN1A):c.5361G>T (p.Glu1787Asp)
|
rs796053038
|
|
NM_001165963.4(SCN1A):c.5375C>A (p.Ala1792Asp)
|
rs1085307942
|
|
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly)
|
|
|
NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)
|
rs121918751
|
|
NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn)
|
|
|
NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs)
|
rs1131691500
|
|
NM_001165963.4(SCN1A):c.5483T>C (p.Leu1828Ser)
|
rs1131691599
|
|
NM_001165963.4(SCN1A):c.5486del (p.Ser1829fs)
|
rs1064796990
|
|
NM_001165963.4(SCN1A):c.5489_5490insAA (p.Phe1831fs)
|
rs1573945872
|
|
NM_001165963.4(SCN1A):c.5495C>A (p.Ala1832Glu)
|
rs2105427061
|
|
NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter)
|
rs1064795579
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu)
|
rs1057517958
|
|
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)
|
rs796053042
|
|
NM_001165963.4(SCN1A):c.5600T>A (p.Ile1867Asn)
|
rs1131691773
|
|
NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr)
|
rs1131691773
|
|
NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del)
|
rs1553519902
|
|
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile)
|
rs121918793
|
|
NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr)
|
rs121917981
|
|
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)
|
rs756519197
|
|