NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile)
|
rs756238700
|
0.00002
|
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg)
|
rs1248613652
|
0.00001
|
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met)
|
rs121918738
|
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.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)
|
rs1689707865
|
0.00001
|
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)
|
rs528239871
|
0.00001
|
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)
|
rs796053043
|
0.00001
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
|
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile)
|
rs2105794473
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
|
|
|
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT
|
rs2105611998
|
|
NM_001165963.4(SCN1A):c.3551-2A>T
|
rs2105612020
|
|
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)
|
rs1692873873
|
|
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
|
|
|
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
|
|
|
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.3676T>G (p.Phe1226Val)
|
rs2105609833
|
|
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe)
|
rs2105609699
|
|
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
|
|
|
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
|
|
|
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
|
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
|
|
|
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
|
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
|
|
|
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.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
|
rs2105571418
|
|
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val)
|
rs121918801
|
|
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
|
|
|
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
|
|
|
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
|
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
|
|
|
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
|
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003-4T>G
|
|
|
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)
|
rs1691091949
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)
|
rs1574006857
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
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.4043T>C (p.Met1348Thr)
|
rs1559128483
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
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.4060T>G (p.Cys1354Gly)
|
|
|
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
|
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro)
|
rs2105509598
|
|
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
|
|
|
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.4122C>G (p.Tyr1374Ter)
|
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
|
|
|
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
|
|
|
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
|
|
|
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
|
|
|
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
|
|
|
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val)
|
rs373547836
|
|
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
|
|
|
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
|
|
|
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4284+4A>C
|
rs1691026372
|
|
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val)
|
rs2105487145
|
|
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
|
|
|
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
|
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4338+616G>A
|
rs1366966423
|
|
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.4378T>C (p.Tyr1460His)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
|
|
|
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
|
rs1690331819
|
|
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
|
|
|
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4475_4476+1del
|
|
|
NM_001165963.4(SCN1A):c.4476+5G>T
|
rs1553522266
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)
|
rs2105462778
|
|
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
|
|
|
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
|
|
|
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.4540T>A (p.Leu1514Ile)
|
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg)
|
rs372425457
|
|
NM_001165963.4(SCN1A):c.4563_4581+39del
|
rs1559114202
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
|
|
|
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)
|
rs2105449347
|
|
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
|
|
|
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
|
|
|
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.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
|
|
|
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)
|
rs1689684958
|
|
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
|
|
|
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro)
|
rs2105447944
|
|
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.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)
|
rs2105447216
|
|
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.4867G>C (p.Glu1623Gln)
|
|
|
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
|
|
|
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
|
|
|
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
|
|
|
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
|
|
|
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
|
|
|
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
|
|
|
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.4969C>A (p.Arg1657Ser)
|
|
|
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>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr)
|
rs121918765
|
|
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.5017A>G (p.Ile1673Val)
|
rs375651364
|
|
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
|
|
|
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)
|
rs2105433264
|
|
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
|
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
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.5111T>C (p.Met1704Thr)
|
rs1689298888
|
|
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
|
rs1689298277
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)
|
rs1689294239
|
|
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
|
|
|
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys)
|
rs2105432013
|
|
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.5177G>A (p.Trp1726Ter)
|
|
|
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.5215C>T (p.Pro1739Ser)
|
rs1689271992
|
|
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.5221T>A (p.Cys1741Ser)
|
|
|
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr)
|
rs528239871
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
|
|
|
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu)
|
rs1573948129
|
|
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
|
|
|
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
|
rs1573947939
|
|
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro)
|
rs2105429381
|
|
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
|
|
|
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del)
|
rs2105428012
|
|
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
|
|
|
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu)
|
rs1689211960
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
|
|
|
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.5597A>G (p.Asp1866Gly)
|
rs1553520029
|
|
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)
|
rs1060502186
|
|
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)
|
rs2105425236
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)
|
rs1689142827
|
|
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys)
|
rs1553519865
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
|
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
|
rs1689136140
|
|