Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166233368_166233369delCA2661765695SCN1A-AS1,SCN9Ac.3897_3898del (p.Arg1299SerfsTer4)
c.3769-4395_3769-4394del (n.3769-4395_3769-4394del)
c.3864_3865del (p.Arg1288SerfsTer4)
n.612-14827_612-14826del
c.3510_3511del (p.Arg1170SerfsTer4)
c.3153_3154del (p.Arg1051SerfsTer4)
 gnomAD v4
2g.166233368C>ACA349066394SCN1A-AS1,SCN9Ac.3896G>T (p.Arg1299Ile)
c.3769-4396G>T (n.3769-4396G>T)
c.3863G>T (p.Arg1288Ile)
n.612-14827C>A
c.3509G>T (p.Arg1170Ile)
c.3152G>T (p.Arg1051Ile)
2g.166233368C=CA1304946715SCN1A-AS1,SCN9Ac.3896G= (p.Arg1299=)
c.3769-4396G= (n.3769-4396G=)
c.3863G= (p.Arg1288=)
n.612-14827C=
c.3509G= (p.Arg1170=)
c.3152G= (p.Arg1051=)
2g.166233368C>GCA349066396SCN1A-AS1,SCN9Ac.3896G>C (p.Arg1299Thr)
c.3769-4396G>C (n.3769-4396G>C)
c.3863G>C (p.Arg1288Thr)
n.612-14827C>G
c.3509G>C (p.Arg1170Thr)
c.3152G>C (p.Arg1051Thr)
2g.166233368C>TCA1943985SCN1A-AS1,SCN9Ac.3896G>A (p.Arg1299Lys)
c.3769-4396G>A (n.3769-4396G>A)
c.3863G>A (p.Arg1288Lys)
n.612-14827C>T
c.3509G>A (p.Arg1170Lys)
c.3152G>A (p.Arg1051Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233369T>ACA349066398SCN1A-AS1,SCN9Ac.3895A>T (p.Arg1299Ter)
c.3769-4397A>T (n.3769-4397A>T)
c.3862A>T (p.Arg1288Ter)
n.612-14826T>A
c.3508A>T (p.Arg1170Ter)
c.3151A>T (p.Arg1051Ter)
 dbSNP
2g.166233369T>CCA349066399SCN1A-AS1,SCN9Ac.3895A>G (p.Arg1299Gly)
c.3769-4397A>G (n.3769-4397A>G)
c.3862A>G (p.Arg1288Gly)
n.612-14826T>C
c.3508A>G (p.Arg1170Gly)
c.3151A>G (p.Arg1051Gly)
 ClinVar dbSNP
2g.166233369T>GCA429900444SCN1A-AS1,SCN9Ac.3895A>C (p.Arg1299=)
c.3769-4397A>C (n.3769-4397A>C)
c.3862A>C (p.Arg1288=)
n.612-14826T>G
c.3508A>C (p.Arg1170=)
c.3151A>C (p.Arg1051=)
2g.166233369T=CA1304946724SCN1A-AS1,SCN9Ac.3895A= (p.Arg1299=)
c.3769-4397A= (n.3769-4397A=)
c.3862A= (p.Arg1288=)
n.612-14826T=
c.3508A= (p.Arg1170=)
c.3151A= (p.Arg1051=)
2g.166233370delCA2661765696SCN1A-AS1,SCN9Ac.3895del (p.Arg1299GlufsTer9)
c.3769-4397del (n.3769-4397del)
c.3862del (p.Arg1288GlufsTer9)
n.612-14825del
c.3508del (p.Arg1170GlufsTer9)
c.3151del (p.Arg1051GlufsTer9)
 gnomAD v4
2g.166233370T>ACA429900446SCN1A-AS1,SCN9Ac.3894A>T (p.Leu1298=)
c.3769-4398A>T (n.3769-4398A>T)
c.3861A>T (p.Leu1287=)
n.612-14825T>A
c.3507A>T (p.Leu1169=)
c.3150A>T (p.Leu1050=)
 dbSNP gnomAD v4
2g.166233370T>CCA1943986SCN1A-AS1,SCN9Ac.3894A>G (p.Leu1298=)
c.3769-4398A>G (n.3769-4398A>G)
c.3861A>G (p.Leu1287=)
n.612-14825T>C
c.3507A>G (p.Leu1169=)
c.3150A>G (p.Leu1050=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233370T>GCA429900448SCN1A-AS1,SCN9Ac.3894A>C (p.Leu1298=)
c.3769-4398A>C (n.3769-4398A>C)
c.3861A>C (p.Leu1287=)
n.612-14825T>G
c.3507A>C (p.Leu1169=)
c.3150A>C (p.Leu1050=)
2g.166233370T=CA1304946729SCN1A-AS1,SCN9Ac.3894A= (p.Leu1298=)
c.3769-4398A= (n.3769-4398A=)
c.3861A= (p.Leu1287=)
n.612-14825T=
c.3507A= (p.Leu1169=)
c.3150A= (p.Leu1050=)
2g.166233371A>CCA349066402SCN1A-AS1,SCN9Ac.3893T>G (p.Leu1298Arg)
c.3769-4399T>G (n.3769-4399T>G)
c.3860T>G (p.Leu1287Arg)
n.612-14824A>C
c.3506T>G (p.Leu1169Arg)
c.3149T>G (p.Leu1050Arg)
2g.166233371A>GCA349066401SCN1A-AS1,SCN9Ac.3893T>C (p.Leu1298Pro)
c.3769-4399T>C (n.3769-4399T>C)
c.3860T>C (p.Leu1287Pro)
n.612-14824A>G
c.3506T>C (p.Leu1169Pro)
c.3149T>C (p.Leu1050Pro)
2g.166233371A>TCA349066400SCN1A-AS1,SCN9Ac.3893T>A (p.Leu1298Gln)
c.3769-4399T>A (n.3769-4399T>A)
c.3860T>A (p.Leu1287Gln)
n.612-14824A>T
c.3506T>A (p.Leu1169Gln)
c.3149T>A (p.Leu1050Gln)
2g.166233373_166233374delCA2753023772SCN1A-AS1,SCN9Ac.3892_3893del (p.Leu1298LysfsTer5)
c.3769-4400_3769-4399del (n.3769-4400_3769-4399del)
c.3859_3860del (p.Leu1287LysfsTer5)
n.612-14822_612-14821del
c.3505_3506del (p.Leu1169LysfsTer5)
c.3148_3149del (p.Leu1050LysfsTer5)
2g.166233372G>ACA429900454SCN1A-AS1,SCN9Ac.3892C>T (p.Leu1298=)
c.3769-4400C>T (n.3769-4400C>T)
c.3859C>T (p.Leu1287=)
n.612-14823G>A
c.3505C>T (p.Leu1169=)
c.3148C>T (p.Leu1050=)
 gnomAD v4
2g.166233372G>CCA349066403SCN1A-AS1,SCN9Ac.3892C>G (p.Leu1298Val)
c.3769-4400C>G (n.3769-4400C>G)
c.3859C>G (p.Leu1287Val)
n.612-14823G>C
c.3505C>G (p.Leu1169Val)
c.3148C>G (p.Leu1050Val)
 gnomAD v4
2g.166233372G>TCA349066404SCN1A-AS1,SCN9Ac.3892C>A (p.Leu1298Ile)
c.3769-4400C>A (n.3769-4400C>A)
c.3859C>A (p.Leu1287Ile)
n.612-14823G>T
c.3505C>A (p.Leu1169Ile)
c.3148C>A (p.Leu1050Ile)
2g.166233373A>CCA429900458SCN1A-AS1,SCN9Ac.3891T>G (p.Pro1297=)
c.3769-4401T>G (n.3769-4401T>G)
c.3858T>G (p.Pro1286=)
n.612-14822A>C
c.3504T>G (p.Pro1168=)
c.3147T>G (p.Pro1049=)
 gnomAD v4
2g.166233373A>GCA429900460SCN1A-AS1,SCN9Ac.3891T>C (p.Pro1297=)
c.3769-4401T>C (n.3769-4401T>C)
c.3858T>C (p.Pro1286=)
n.612-14822A>G
c.3504T>C (p.Pro1168=)
c.3147T>C (p.Pro1049=)
 gnomAD v4
2g.166233373A>TCA429900461SCN1A-AS1,SCN9Ac.3891T>A (p.Pro1297=)
c.3769-4401T>A (n.3769-4401T>A)
c.3858T>A (p.Pro1286=)
n.612-14822A>T
c.3504T>A (p.Pro1168=)
c.3147T>A (p.Pro1049=)
2g.166233374G>ACA349066405SCN1A-AS1,SCN9Ac.3890C>T (p.Pro1297Leu)
c.3769-4402C>T (n.3769-4402C>T)
c.3857C>T (p.Pro1286Leu)
n.612-14821G>A
c.3503C>T (p.Pro1168Leu)
c.3146C>T (p.Pro1049Leu)
 gnomAD v4
2g.166233374G>CCA349066406SCN1A-AS1,SCN9Ac.3890C>G (p.Pro1297Arg)
c.3769-4402C>G (n.3769-4402C>G)
c.3857C>G (p.Pro1286Arg)
n.612-14821G>C
c.3503C>G (p.Pro1168Arg)
c.3146C>G (p.Pro1049Arg)
2g.166233374G>TCA349066407SCN1A-AS1,SCN9Ac.3890C>A (p.Pro1297His)
c.3769-4402C>A (n.3769-4402C>A)
c.3857C>A (p.Pro1286His)
n.612-14821G>T
c.3503C>A (p.Pro1168His)
c.3146C>A (p.Pro1049His)
2g.166233375G>ACA349066408SCN1A-AS1,SCN9Ac.3889C>T (p.Pro1297Ser)
c.3769-4403C>T (n.3769-4403C>T)
c.3856C>T (p.Pro1286Ser)
n.612-14820G>A
c.3502C>T (p.Pro1168Ser)
c.3145C>T (p.Pro1049Ser)
 COSMIC COSMIC
2g.166233375G>CCA349066409SCN1A-AS1,SCN9Ac.3889C>G (p.Pro1297Ala)
c.3769-4403C>G (n.3769-4403C>G)
c.3856C>G (p.Pro1286Ala)
n.612-14820G>C
c.3502C>G (p.Pro1168Ala)
c.3145C>G (p.Pro1049Ala)
2g.166233375G>TCA349066410SCN1A-AS1,SCN9Ac.3889C>A (p.Pro1297Thr)
c.3769-4403C>A (n.3769-4403C>A)
c.3856C>A (p.Pro1286Thr)
n.612-14820G>T
c.3502C>A (p.Pro1168Thr)
c.3145C>A (p.Pro1049Thr)
 gnomAD v4
2g.166233376T>ACA349066411SCN1A-AS1,SCN9Ac.3888A>T (p.Arg1296Ser)
c.3769-4404A>T (n.3769-4404A>T)
c.3855A>T (p.Arg1285Ser)
n.612-14819T>A
c.3501A>T (p.Arg1167Ser)
c.3144A>T (p.Arg1048Ser)
2g.166233376T>CCA429900473SCN1A-AS1,SCN9Ac.3888A>G (p.Arg1296=)
c.3769-4404A>G (n.3769-4404A>G)
c.3855A>G (p.Arg1285=)
n.612-14819T>C
c.3501A>G (p.Arg1167=)
c.3144A>G (p.Arg1048=)
2g.166233376T>GCA349066412SCN1A-AS1,SCN9Ac.3888A>C (p.Arg1296Ser)
c.3769-4404A>C (n.3769-4404A>C)
c.3855A>C (p.Arg1285Ser)
n.612-14819T>G
c.3501A>C (p.Arg1167Ser)
c.3144A>C (p.Arg1048Ser)
2g.166233377C>ACA349066413SCN1A-AS1,SCN9Ac.3887G>T (p.Arg1296Ile)
c.3769-4405G>T (n.3769-4405G>T)
c.3854G>T (p.Arg1285Ile)
n.612-14818C>A
c.3500G>T (p.Arg1167Ile)
c.3143G>T (p.Arg1048Ile)
2g.166233377C>GCA349066414SCN1A-AS1,SCN9Ac.3887G>C (p.Arg1296Thr)
c.3769-4405G>C (n.3769-4405G>C)
c.3854G>C (p.Arg1285Thr)
n.612-14818C>G
c.3500G>C (p.Arg1167Thr)
c.3143G>C (p.Arg1048Thr)
2g.166233377C>TCA349066415SCN1A-AS1,SCN9Ac.3887G>A (p.Arg1296Lys)
c.3769-4405G>A (n.3769-4405G>A)
c.3854G>A (p.Arg1285Lys)
n.612-14818C>T
c.3500G>A (p.Arg1167Lys)
c.3143G>A (p.Arg1048Lys)
2g.166233378T>ACA349066417SCN1A-AS1,SCN9Ac.3886A>T (p.Arg1296Ter)
c.3769-4406A>T (n.3769-4406A>T)
c.3853A>T (p.Arg1285Ter)
n.612-14817T>A
c.3499A>T (p.Arg1167Ter)
c.3142A>T (p.Arg1048Ter)
 dbSNP
2g.166233378T>CCA349066416SCN1A-AS1,SCN9Ac.3886A>G (p.Arg1296Gly)
c.3769-4406A>G (n.3769-4406A>G)
c.3853A>G (p.Arg1285Gly)
n.612-14817T>C
c.3499A>G (p.Arg1167Gly)
c.3142A>G (p.Arg1048Gly)
2g.166233378T>GCA429900474SCN1A-AS1,SCN9Ac.3886A>C (p.Arg1296=)
c.3769-4406A>C (n.3769-4406A>C)
c.3853A>C (p.Arg1285=)
n.612-14817T>G
c.3499A>C (p.Arg1167=)
c.3142A>C (p.Arg1048=)
2g.166233378T=CA1304946734SCN1A-AS1,SCN9Ac.3886A= (p.Arg1296=)
c.3769-4406A= (n.3769-4406A=)
c.3853A= (p.Arg1285=)
n.612-14817T=
c.3499A= (p.Arg1167=)
c.3142A= (p.Arg1048=)
2g.166233379T>ACA349066418SCN1A-AS1,SCN9Ac.3885A>T (p.Leu1295Phe)
c.3769-4407A>T (n.3769-4407A>T)
c.3852A>T (p.Leu1284Phe)
n.612-14816T>A
c.3498A>T (p.Leu1166Phe)
c.3141A>T (p.Leu1047Phe)
2g.166233379T>CCA429900475SCN1A-AS1,SCN9Ac.3885A>G (p.Leu1295=)
c.3769-4407A>G (n.3769-4407A>G)
c.3852A>G (p.Leu1284=)
n.612-14816T>C
c.3498A>G (p.Leu1166=)
c.3141A>G (p.Leu1047=)
2g.166233379T>GCA349066419SCN1A-AS1,SCN9Ac.3885A>C (p.Leu1295Phe)
c.3769-4407A>C (n.3769-4407A>C)
c.3852A>C (p.Leu1284Phe)
n.612-14816T>G
c.3498A>C (p.Leu1166Phe)
c.3141A>C (p.Leu1047Phe)
2g.166233379T=CA1304946738SCN1A-AS1,SCN9Ac.3885A= (p.Leu1295=)
c.3769-4407A= (n.3769-4407A=)
c.3852A= (p.Leu1284=)
n.612-14816T=
c.3498A= (p.Leu1166=)
c.3141A= (p.Leu1047=)
2g.166233380A=CA1304946744SCN1A-AS1,SCN9Ac.3884T= (p.Leu1295=)
c.3769-4408T= (n.3769-4408T=)
c.3851T= (p.Leu1284=)
n.612-14815A=
c.3497T= (p.Leu1166=)
c.3140T= (p.Leu1047=)
2g.166233380A>CCA349066420SCN1A-AS1,SCN9Ac.3884T>G (p.Leu1295Ter)
c.3769-4408T>G (n.3769-4408T>G)
c.3851T>G (p.Leu1284Ter)
n.612-14815A>C
c.3497T>G (p.Leu1166Ter)
c.3140T>G (p.Leu1047Ter)
2g.166233380A>GCA349066421SCN1A-AS1,SCN9Ac.3884T>C (p.Leu1295Ser)
c.3769-4408T>C (n.3769-4408T>C)
c.3851T>C (p.Leu1284Ser)
n.612-14815A>G
c.3497T>C (p.Leu1166Ser)
c.3140T>C (p.Leu1047Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166233380A>TCA349066422SCN1A-AS1,SCN9Ac.3884T>A (p.Leu1295Ter)
c.3769-4408T>A (n.3769-4408T>A)
c.3851T>A (p.Leu1284Ter)
n.612-14815A>T
c.3497T>A (p.Leu1166Ter)
c.3140T>A (p.Leu1047Ter)
2g.166233380_166233381insGAACA537511603SCN1A-AS1,SCN9Ac.3884_3885insTCT (p.Ala1294_Leu1295insPhe)
c.3769-4408_3769-4407insTCT (n.3769-4408_3769-4407insTCT)
c.3851_3852insTCT (p.Ala1283_Leu1284insPhe)
n.612-14815_612-14814insGAA
c.3497_3498insTCT (p.Ala1165_Leu1166insPhe)
c.3140_3141insTCT (p.Ala1046_Leu1047insPhe)
 dbSNP gnomAD v2 gnomAD v4
2g.166233382delCA2661765697SCN1A-AS1,SCN9Ac.3884del (p.Leu1295Ter)
c.3769-4408del (n.3769-4408del)
c.3851del (p.Leu1284Ter)
n.612-14813del
c.3497del (p.Leu1166Ter)
c.3140del (p.Leu1047Ter)
 ClinVar gnomAD v4
2g.166233381A>CCA349066423SCN1A-AS1,SCN9Ac.3883T>G (p.Leu1295Val)
c.3769-4409T>G (n.3769-4409T>G)
c.3850T>G (p.Leu1284Val)
n.612-14814A>C
c.3496T>G (p.Leu1166Val)
c.3139T>G (p.Leu1047Val)
 ClinVar dbSNP
2g.166233381A>GCA429900476SCN1A-AS1,SCN9Ac.3883T>C (p.Leu1295=)
c.3769-4409T>C (n.3769-4409T>C)
c.3850T>C (p.Leu1284=)
n.612-14814A>G
c.3496T>C (p.Leu1166=)
c.3139T>C (p.Leu1047=)
2g.166233381A>TCA349066424SCN1A-AS1,SCN9Ac.3883T>A (p.Leu1295Ile)
c.3769-4409T>A (n.3769-4409T>A)
c.3850T>A (p.Leu1284Ile)
n.612-14814A>T
c.3496T>A (p.Leu1166Ile)
c.3139T>A (p.Leu1047Ile)
2g.166233382A>CCA429900477SCN1A-AS1,SCN9Ac.3882T>G (p.Ala1294=)
c.3769-4410T>G (n.3769-4410T>G)
c.3849T>G (p.Ala1283=)
n.612-14813A>C
c.3495T>G (p.Ala1165=)
c.3138T>G (p.Ala1046=)
 gnomAD v4
2g.166233382A>GCA429900478SCN1A-AS1,SCN9Ac.3882T>C (p.Ala1294=)
c.3769-4410T>C (n.3769-4410T>C)
c.3849T>C (p.Ala1283=)
n.612-14813A>G
c.3495T>C (p.Ala1165=)
c.3138T>C (p.Ala1046=)
2g.166233382A>TCA429900479SCN1A-AS1,SCN9Ac.3882T>A (p.Ala1294=)
c.3769-4410T>A (n.3769-4410T>A)
c.3849T>A (p.Ala1283=)
n.612-14813A>T
c.3495T>A (p.Ala1165=)
c.3138T>A (p.Ala1046=)
2g.166233383G>ACA349066425SCN1A-AS1,SCN9Ac.3881C>T (p.Ala1294Val)
c.3769-4411C>T (n.3769-4411C>T)
c.3848C>T (p.Ala1283Val)
n.612-14812G>A
c.3494C>T (p.Ala1165Val)
c.3137C>T (p.Ala1046Val)
 ClinVar dbSNP gnomAD v4
2g.166233383G>CCA349066426SCN1A-AS1,SCN9Ac.3881C>G (p.Ala1294Gly)
c.3769-4411C>G (n.3769-4411C>G)
c.3848C>G (p.Ala1283Gly)
n.612-14812G>C
c.3494C>G (p.Ala1165Gly)
c.3137C>G (p.Ala1046Gly)
2g.166233383G>TCA349066427SCN1A-AS1,SCN9Ac.3881C>A (p.Ala1294Asp)
c.3769-4411C>A (n.3769-4411C>A)
c.3848C>A (p.Ala1283Asp)
n.612-14812G>T
c.3494C>A (p.Ala1165Asp)
c.3137C>A (p.Ala1046Asp)
2g.166233384C>ACA349066428SCN1A-AS1,SCN9Ac.3880G>T (p.Ala1294Ser)
c.3769-4412G>T (n.3769-4412G>T)
c.3847G>T (p.Ala1283Ser)
n.612-14811C>A
c.3493G>T (p.Ala1165Ser)
c.3136G>T (p.Ala1046Ser)
 gnomAD v4
2g.166233384C>GCA349066429SCN1A-AS1,SCN9Ac.3880G>C (p.Ala1294Pro)
c.3769-4412G>C (n.3769-4412G>C)
c.3847G>C (p.Ala1283Pro)
n.612-14811C>G
c.3493G>C (p.Ala1165Pro)
c.3136G>C (p.Ala1046Pro)
2g.166233384C>TCA349066430SCN1A-AS1,SCN9Ac.3880G>A (p.Ala1294Thr)
c.3769-4412G>A (n.3769-4412G>A)
c.3847G>A (p.Ala1283Thr)
n.612-14811C>T
c.3493G>A (p.Ala1165Thr)
c.3136G>A (p.Ala1046Thr)
2g.166233385T>ACA349066432SCN1A-AS1,SCN9Ac.3879A>T (p.Arg1293Ser)
c.3769-4413A>T (n.3769-4413A>T)
c.3846A>T (p.Arg1282Ser)
n.612-14810T>A
c.3492A>T (p.Arg1164Ser)
c.3135A>T (p.Arg1045Ser)
2g.166233385T>CCA429900480SCN1A-AS1,SCN9Ac.3879A>G (p.Arg1293=)
c.3769-4413A>G (n.3769-4413A>G)
c.3846A>G (p.Arg1282=)
n.612-14810T>C
c.3492A>G (p.Arg1164=)
c.3135A>G (p.Arg1045=)
 gnomAD v4
2g.166233385T>GCA349066431SCN1A-AS1,SCN9Ac.3879A>C (p.Arg1293Ser)
c.3769-4413A>C (n.3769-4413A>C)
c.3846A>C (p.Arg1282Ser)
n.612-14810T>G
c.3492A>C (p.Arg1164Ser)
c.3135A>C (p.Arg1045Ser)
2g.166233386C>ACA349066435SCN1A-AS1,SCN9Ac.3878G>T (p.Arg1293Ile)
c.3769-4414G>T (n.3769-4414G>T)
c.3845G>T (p.Arg1282Ile)
n.612-14809C>A
c.3491G>T (p.Arg1164Ile)
c.3134G>T (p.Arg1045Ile)
2g.166233386C>GCA349066439SCN1A-AS1,SCN9Ac.3878G>C (p.Arg1293Thr)
c.3769-4414G>C (n.3769-4414G>C)
c.3845G>C (p.Arg1282Thr)
n.612-14809C>G
c.3491G>C (p.Arg1164Thr)
c.3134G>C (p.Arg1045Thr)
 ClinVar dbSNP
2g.166233386C>TCA349066437SCN1A-AS1,SCN9Ac.3878G>A (p.Arg1293Lys)
c.3769-4414G>A (n.3769-4414G>A)
c.3845G>A (p.Arg1282Lys)
n.612-14809C>T
c.3491G>A (p.Arg1164Lys)
c.3134G>A (p.Arg1045Lys)
2g.166233387T>ACA349066440SCN1A-AS1,SCN9Ac.3877A>T (p.Arg1293Ter)
c.3769-4415A>T (n.3769-4415A>T)
c.3844A>T (p.Arg1282Ter)
n.612-14808T>A
c.3490A>T (p.Arg1164Ter)
c.3133A>T (p.Arg1045Ter)
 dbSNP
2g.166233387T>CCA349066442SCN1A-AS1,SCN9Ac.3877A>G (p.Arg1293Gly)
c.3769-4415A>G (n.3769-4415A>G)
c.3844A>G (p.Arg1282Gly)
n.612-14808T>C
c.3490A>G (p.Arg1164Gly)
c.3133A>G (p.Arg1045Gly)
 COSMIC
2g.166233387T>GCA429900481SCN1A-AS1,SCN9Ac.3877A>C (p.Arg1293=)
c.3769-4415A>C (n.3769-4415A>C)
c.3844A>C (p.Arg1282=)
n.612-14808T>G
c.3490A>C (p.Arg1164=)
c.3133A>C (p.Arg1045=)
2g.166233387T=CA1304946753SCN1A-AS1,SCN9Ac.3877A= (p.Arg1293=)
c.3769-4415A= (n.3769-4415A=)
c.3844A= (p.Arg1282=)
n.612-14808T=
c.3490A= (p.Arg1164=)
c.3133A= (p.Arg1045=)
2g.166233388C>ACA429900483SCN1A-AS1,SCN9Ac.3876G>T (p.Leu1292=)
c.3769-4416G>T (n.3769-4416G>T)
c.3843G>T (p.Leu1281=)
n.612-14807C>A
c.3489G>T (p.Leu1163=)
c.3132G>T (p.Leu1044=)
2g.166233388C>GCA429900484SCN1A-AS1,SCN9Ac.3876G>C (p.Leu1292=)
c.3769-4416G>C (n.3769-4416G>C)
c.3843G>C (p.Leu1281=)
n.612-14807C>G
c.3489G>C (p.Leu1163=)
c.3132G>C (p.Leu1044=)
2g.166233388C>TCA429900482SCN1A-AS1,SCN9Ac.3876G>A (p.Leu1292=)
c.3769-4416G>A (n.3769-4416G>A)
c.3843G>A (p.Leu1281=)
n.612-14807C>T
c.3489G>A (p.Leu1163=)
c.3132G>A (p.Leu1044=)
 gnomAD v4
2g.166233389A=CA1304946760SCN1A-AS1,SCN9Ac.3875T= (p.Leu1292=)
c.3769-4417T= (n.3769-4417T=)
c.3842T= (p.Leu1281=)
n.612-14806A=
c.3488T= (p.Leu1163=)
c.3131T= (p.Leu1044=)
2g.166233389A>CCA349066444SCN1A-AS1,SCN9Ac.3875T>G (p.Leu1292Arg)
c.3769-4417T>G (n.3769-4417T>G)
c.3842T>G (p.Leu1281Arg)
n.612-14806A>C
c.3488T>G (p.Leu1163Arg)
c.3131T>G (p.Leu1044Arg)
 ClinVar dbSNP
2g.166233389A>GCA349066446SCN1A-AS1,SCN9Ac.3875T>C (p.Leu1292Pro)
c.3769-4417T>C (n.3769-4417T>C)
c.3842T>C (p.Leu1281Pro)
n.612-14806A>G
c.3488T>C (p.Leu1163Pro)
c.3131T>C (p.Leu1044Pro)
 gnomAD v4
2g.166233389A>TCA349066448SCN1A-AS1,SCN9Ac.3875T>A (p.Leu1292Gln)
c.3769-4417T>A (n.3769-4417T>A)
c.3842T>A (p.Leu1281Gln)
n.612-14806A>T
c.3488T>A (p.Leu1163Gln)
c.3131T>A (p.Leu1044Gln)
2g.166233390G>ACA429900485SCN1A-AS1,SCN9Ac.3874C>T (p.Leu1292=)
c.3769-4418C>T (n.3769-4418C>T)
c.3841C>T (p.Leu1281=)
n.612-14805G>A
c.3487C>T (p.Leu1163=)
c.3130C>T (p.Leu1044=)
2g.166233390G>CCA349066450SCN1A-AS1,SCN9Ac.3874C>G (p.Leu1292Val)
c.3769-4418C>G (n.3769-4418C>G)
c.3841C>G (p.Leu1281Val)
n.612-14805G>C
c.3487C>G (p.Leu1163Val)
c.3130C>G (p.Leu1044Val)
2g.166233390G>TCA349066452SCN1A-AS1,SCN9Ac.3874C>A (p.Leu1292Met)
c.3769-4418C>A (n.3769-4418C>A)
c.3841C>A (p.Leu1281Met)
n.612-14805G>T
c.3487C>A (p.Leu1163Met)
c.3130C>A (p.Leu1044Met)
2g.166233391T>ACA429900486SCN1A-AS1,SCN9Ac.3873A>T (p.Thr1291=)
c.3769-4419A>T (n.3769-4419A>T)
c.3840A>T (p.Thr1280=)
n.612-14804T>A
c.3486A>T (p.Thr1162=)
c.3129A>T (p.Thr1043=)
2g.166233391T>CCA429900487SCN1A-AS1,SCN9Ac.3873A>G (p.Thr1291=)
c.3769-4419A>G (n.3769-4419A>G)
c.3840A>G (p.Thr1280=)
n.612-14804T>C
c.3486A>G (p.Thr1162=)
c.3129A>G (p.Thr1043=)
2g.166233391T>GCA429900488SCN1A-AS1,SCN9Ac.3873A>C (p.Thr1291=)
c.3769-4419A>C (n.3769-4419A>C)
c.3840A>C (p.Thr1280=)
n.612-14804T>G
c.3486A>C (p.Thr1162=)
c.3129A>C (p.Thr1043=)
2g.166233392G>ACA349066454SCN1A-AS1,SCN9Ac.3872C>T (p.Thr1291Ile)
c.3769-4420C>T (n.3769-4420C>T)
c.3839C>T (p.Thr1280Ile)
n.612-14803G>A
c.3485C>T (p.Thr1162Ile)
c.3128C>T (p.Thr1043Ile)
 gnomAD v4
2g.166233392G>CCA349066455SCN1A-AS1,SCN9Ac.3872C>G (p.Thr1291Arg)
c.3769-4420C>G (n.3769-4420C>G)
c.3839C>G (p.Thr1280Arg)
n.612-14803G>C
c.3485C>G (p.Thr1162Arg)
c.3128C>G (p.Thr1043Arg)
2g.166233392G>TCA349066457SCN1A-AS1,SCN9Ac.3872C>A (p.Thr1291Lys)
c.3769-4420C>A (n.3769-4420C>A)
c.3839C>A (p.Thr1280Lys)
n.612-14803G>T
c.3485C>A (p.Thr1162Lys)
c.3128C>A (p.Thr1043Lys)
 gnomAD v4
2g.166233393T>ACA349066459SCN1A-AS1,SCN9Ac.3871A>T (p.Thr1291Ser)
c.3769-4421A>T (n.3769-4421A>T)
c.3838A>T (p.Thr1280Ser)
n.612-14802T>A
c.3484A>T (p.Thr1162Ser)
c.3127A>T (p.Thr1043Ser)
2g.166233393T>CCA349066461SCN1A-AS1,SCN9Ac.3871A>G (p.Thr1291Ala)
c.3769-4421A>G (n.3769-4421A>G)
c.3838A>G (p.Thr1280Ala)
n.612-14802T>C
c.3484A>G (p.Thr1162Ala)
c.3127A>G (p.Thr1043Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166233393T>GCA349066463SCN1A-AS1,SCN9Ac.3871A>C (p.Thr1291Pro)
c.3769-4421A>C (n.3769-4421A>C)
c.3838A>C (p.Thr1280Pro)
n.612-14802T>G
c.3484A>C (p.Thr1162Pro)
c.3127A>C (p.Thr1043Pro)
2g.166233393T=CA1304946763SCN1A-AS1,SCN9Ac.3871A= (p.Thr1291=)
c.3769-4421A= (n.3769-4421A=)
c.3838A= (p.Thr1280=)
n.612-14802T=
c.3484A= (p.Thr1162=)
c.3127A= (p.Thr1043=)
2g.166233394C>ACA429900491SCN1A-AS1,SCN9Ac.3870G>T (p.Arg1290=)
c.3769-4422G>T (n.3769-4422G>T)
c.3837G>T (p.Arg1279=)
n.612-14801C>A
c.3483G>T (p.Arg1161=)
c.3126G>T (p.Arg1042=)
2g.166233394C>GCA429900490SCN1A-AS1,SCN9Ac.3870G>C (p.Arg1290=)
c.3769-4422G>C (n.3769-4422G>C)
c.3837G>C (p.Arg1279=)
n.612-14801C>G
c.3483G>C (p.Arg1161=)
c.3126G>C (p.Arg1042=)
 gnomAD v4
2g.166233394C>TCA429900489SCN1A-AS1,SCN9Ac.3870G>A (p.Arg1290=)
c.3769-4422G>A (n.3769-4422G>A)
c.3837G>A (p.Arg1279=)
n.612-14801C>T
c.3483G>A (p.Arg1161=)
c.3126G>A (p.Arg1042=)
 gnomAD v4
2g.166233395C>ACA1943988SCN1A-AS1,SCN9Ac.3869G>T (p.Arg1290Leu)
c.3769-4423G>T (n.3769-4423G>T)
c.3836G>T (p.Arg1279Leu)
n.612-14800C>A
c.3482G>T (p.Arg1161Leu)
c.3125G>T (p.Arg1042Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233395C=CA1304946769SCN1A-AS1,SCN9Ac.3869G= (p.Arg1290=)
c.3769-4423G= (n.3769-4423G=)
c.3836G= (p.Arg1279=)
n.612-14800C=
c.3482G= (p.Arg1161=)
c.3125G= (p.Arg1042=)
2g.166233395C>GCA349066466SCN1A-AS1,SCN9Ac.3869G>C (p.Arg1290Pro)
c.3769-4423G>C (n.3769-4423G>C)
c.3836G>C (p.Arg1279Pro)
n.612-14800C>G
c.3482G>C (p.Arg1161Pro)
c.3125G>C (p.Arg1042Pro)
 ClinVar dbSNP gnomAD v4
2g.166233395C>TCA1943987SCN1A-AS1,SCN9Ac.3869G>A (p.Arg1290Gln)
c.3769-4423G>A (n.3769-4423G>A)
c.3836G>A (p.Arg1279Gln)
n.612-14800C>T
c.3482G>A (p.Arg1161Gln)
c.3125G>A (p.Arg1042Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166233396G>ACA1943989SCN1A-AS1,SCN9Ac.3868C>T (p.Arg1290Trp)
c.3769-4424C>T (n.3769-4424C>T)
c.3835C>T (p.Arg1279Trp)
n.612-14799G>A
c.3481C>T (p.Arg1161Trp)
c.3124C>T (p.Arg1042Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166233396G>CCA349066472SCN1A-AS1,SCN9Ac.3868C>G (p.Arg1290Gly)
c.3769-4424C>G (n.3769-4424C>G)
c.3835C>G (p.Arg1279Gly)
n.612-14799G>C
c.3481C>G (p.Arg1161Gly)
c.3124C>G (p.Arg1042Gly)
2g.166233396G=CA1304946784SCN1A-AS1,SCN9Ac.3868C= (p.Arg1290=)
c.3769-4424C= (n.3769-4424C=)
c.3835C= (p.Arg1279=)
n.612-14799G=
c.3481C= (p.Arg1161=)
c.3124C= (p.Arg1042=)
2g.166233396G>TCA429900492SCN1A-AS1,SCN9Ac.3868C>A (p.Arg1290=)
c.3769-4424C>A (n.3769-4424C>A)
c.3835C>A (p.Arg1279=)
n.612-14799G>T
c.3481C>A (p.Arg1161=)
c.3124C>A (p.Arg1042=)
 ClinVar gnomAD v4
2g.166233397A>CCA429900493SCN1A-AS1,SCN9Ac.3867T>G (p.Leu1289=)
c.3769-4425T>G (n.3769-4425T>G)
c.3834T>G (p.Leu1278=)
n.612-14798A>C
c.3480T>G (p.Leu1160=)
c.3123T>G (p.Leu1041=)
2g.166233397A>GCA429900494SCN1A-AS1,SCN9Ac.3867T>C (p.Leu1289=)
c.3769-4425T>C (n.3769-4425T>C)
c.3834T>C (p.Leu1278=)
n.612-14798A>G
c.3480T>C (p.Leu1160=)
c.3123T>C (p.Leu1041=)
2g.166233397A>TCA429900495SCN1A-AS1,SCN9Ac.3867T>A (p.Leu1289=)
c.3769-4425T>A (n.3769-4425T>A)
c.3834T>A (p.Leu1278=)
n.612-14798A>T
c.3480T>A (p.Leu1160=)
c.3123T>A (p.Leu1041=)
2g.166233398A>CCA349066475SCN1A-AS1,SCN9Ac.3866T>G (p.Leu1289Arg)
c.3769-4426T>G (n.3769-4426T>G)
c.3833T>G (p.Leu1278Arg)
n.612-14797A>C
c.3479T>G (p.Leu1160Arg)
c.3122T>G (p.Leu1041Arg)
2g.166233398A>GCA349066477SCN1A-AS1,SCN9Ac.3866T>C (p.Leu1289Pro)
c.3769-4426T>C (n.3769-4426T>C)
c.3833T>C (p.Leu1278Pro)
n.612-14797A>G
c.3479T>C (p.Leu1160Pro)
c.3122T>C (p.Leu1041Pro)
 gnomAD v4
2g.166233398A>TCA349066479SCN1A-AS1,SCN9Ac.3866T>A (p.Leu1289His)
c.3769-4426T>A (n.3769-4426T>A)
c.3833T>A (p.Leu1278His)
n.612-14797A>T
c.3479T>A (p.Leu1160His)
c.3122T>A (p.Leu1041His)
2g.166233399G>ACA349066481SCN1A-AS1,SCN9Ac.3865C>T (p.Leu1289Phe)
c.3769-4427C>T (n.3769-4427C>T)
c.3832C>T (p.Leu1278Phe)
n.612-14796G>A
c.3478C>T (p.Leu1160Phe)
c.3121C>T (p.Leu1041Phe)
 ClinVar gnomAD v4
2g.166233399G>CCA349066483SCN1A-AS1,SCN9Ac.3865C>G (p.Leu1289Val)
c.3769-4427C>G (n.3769-4427C>G)
c.3832C>G (p.Leu1278Val)
n.612-14796G>C
c.3478C>G (p.Leu1160Val)
c.3121C>G (p.Leu1041Val)
2g.166233399G>TCA349066485SCN1A-AS1,SCN9Ac.3865C>A (p.Leu1289Ile)
c.3769-4427C>A (n.3769-4427C>A)
c.3832C>A (p.Leu1278Ile)
n.612-14796G>T
c.3478C>A (p.Leu1160Ile)
c.3121C>A (p.Leu1041Ile)
2g.166233400G>ACA429900496SCN1A-AS1,SCN9Ac.3864C>T (p.Ser1288=)
c.3769-4428C>T (n.3769-4428C>T)
c.3831C>T (p.Ser1277=)
n.612-14795G>A
c.3477C>T (p.Ser1159=)
c.3120C>T (p.Ser1040=)
2g.166233400G>CCA429900497SCN1A-AS1,SCN9Ac.3864C>G (p.Ser1288=)
c.3769-4428C>G (n.3769-4428C>G)
c.3831C>G (p.Ser1277=)
n.612-14795G>C
c.3477C>G (p.Ser1159=)
c.3120C>G (p.Ser1040=)
2g.166233400G>TCA429900498SCN1A-AS1,SCN9Ac.3864C>A (p.Ser1288=)
c.3769-4428C>A (n.3769-4428C>A)
c.3831C>A (p.Ser1277=)
n.612-14795G>T
c.3477C>A (p.Ser1159=)
c.3120C>A (p.Ser1040=)
 gnomAD v4
2g.166233401G>ACA349066487SCN1A-AS1,SCN9Ac.3863C>T (p.Ser1288Phe)
c.3769-4429C>T (n.3769-4429C>T)
c.3830C>T (p.Ser1277Phe)
n.612-14794G>A
c.3476C>T (p.Ser1159Phe)
c.3119C>T (p.Ser1040Phe)
 COSMIC COSMIC
2g.166233401G>CCA349066490SCN1A-AS1,SCN9Ac.3863C>G (p.Ser1288Cys)
c.3769-4429C>G (n.3769-4429C>G)
c.3830C>G (p.Ser1277Cys)
n.612-14794G>C
c.3476C>G (p.Ser1159Cys)
c.3119C>G (p.Ser1040Cys)
2g.166233401G>TCA349066492SCN1A-AS1,SCN9Ac.3863C>A (p.Ser1288Tyr)
c.3769-4429C>A (n.3769-4429C>A)
c.3830C>A (p.Ser1277Tyr)
n.612-14794G>T
c.3476C>A (p.Ser1159Tyr)
c.3119C>A (p.Ser1040Tyr)
2g.166233402A>CCA349066502SCN1A-AS1,SCN9Ac.3862T>G (p.Ser1288Ala)
c.3769-4430T>G (n.3769-4430T>G)
c.3829T>G (p.Ser1277Ala)
n.612-14793A>C
c.3475T>G (p.Ser1159Ala)
c.3118T>G (p.Ser1040Ala)
2g.166233402A>GCA349066500SCN1A-AS1,SCN9Ac.3862T>C (p.Ser1288Pro)
c.3769-4430T>C (n.3769-4430T>C)
c.3829T>C (p.Ser1277Pro)
n.612-14793A>G
c.3475T>C (p.Ser1159Pro)
c.3118T>C (p.Ser1040Pro)
2g.166233402A>TCA349066495SCN1A-AS1,SCN9Ac.3862T>A (p.Ser1288Thr)
c.3769-4430T>A (n.3769-4430T>A)
c.3829T>A (p.Ser1277Thr)
n.612-14793A>T
c.3475T>A (p.Ser1159Thr)
c.3118T>A (p.Ser1040Thr)
2g.166233403T>ACA349066504SCN1A-AS1,SCN9Ac.3861A>T (p.Lys1287Asn)
c.3769-4431A>T (n.3769-4431A>T)
c.3828A>T (p.Lys1276Asn)
n.612-14792T>A
c.3474A>T (p.Lys1158Asn)
c.3117A>T (p.Lys1039Asn)
2g.166233403T>CCA429900499SCN1A-AS1,SCN9Ac.3861A>G (p.Lys1287=)
c.3769-4431A>G (n.3769-4431A>G)
c.3828A>G (p.Lys1276=)
n.612-14792T>C
c.3474A>G (p.Lys1158=)
c.3117A>G (p.Lys1039=)
2g.166233403T>GCA349066506SCN1A-AS1,SCN9Ac.3861A>C (p.Lys1287Asn)
c.3769-4431A>C (n.3769-4431A>C)
c.3828A>C (p.Lys1276Asn)
n.612-14792T>G
c.3474A>C (p.Lys1158Asn)
c.3117A>C (p.Lys1039Asn)
2g.166233404T>ACA349066509SCN1A-AS1,SCN9Ac.3860A>T (p.Lys1287Ile)
c.3769-4432A>T (n.3769-4432A>T)
c.3827A>T (p.Lys1276Ile)
n.612-14791T>A
c.3473A>T (p.Lys1158Ile)
c.3116A>T (p.Lys1039Ile)
2g.166233404T>CCA349066510SCN1A-AS1,SCN9Ac.3860A>G (p.Lys1287Arg)
c.3769-4432A>G (n.3769-4432A>G)
c.3827A>G (p.Lys1276Arg)
n.612-14791T>C
c.3473A>G (p.Lys1158Arg)
c.3116A>G (p.Lys1039Arg)
2g.166233404T>GCA349066512SCN1A-AS1,SCN9Ac.3860A>C (p.Lys1287Thr)
c.3769-4432A>C (n.3769-4432A>C)
c.3827A>C (p.Lys1276Thr)
n.612-14791T>G
c.3473A>C (p.Lys1158Thr)
c.3116A>C (p.Lys1039Thr)
2g.166233405T>ACA349066514SCN1A-AS1,SCN9Ac.3859A>T (p.Lys1287Ter)
c.3769-4433A>T (n.3769-4433A>T)
c.3826A>T (p.Lys1276Ter)
n.612-14790T>A
c.3472A>T (p.Lys1158Ter)
c.3115A>T (p.Lys1039Ter)
 dbSNP
2g.166233405T>CCA349066516SCN1A-AS1,SCN9Ac.3859A>G (p.Lys1287Glu)
c.3769-4433A>G (n.3769-4433A>G)
c.3826A>G (p.Lys1276Glu)
n.612-14790T>C
c.3472A>G (p.Lys1158Glu)
c.3115A>G (p.Lys1039Glu)
 gnomAD v4
2g.166233405T>GCA349066518SCN1A-AS1,SCN9Ac.3859A>C (p.Lys1287Gln)
c.3769-4433A>C (n.3769-4433A>C)
c.3826A>C (p.Lys1276Gln)
n.612-14790T>G
c.3472A>C (p.Lys1158Gln)
c.3115A>C (p.Lys1039Gln)
2g.166233405T=CA1304946790SCN1A-AS1,SCN9Ac.3859A= (p.Lys1287=)
c.3769-4433A= (n.3769-4433A=)
c.3826A= (p.Lys1276=)
n.612-14790T=
c.3472A= (p.Lys1158=)
c.3115A= (p.Lys1039=)
2g.166233406A>CCA349066520SCN1A-AS1,SCN9Ac.3858T>G (p.Ile1286Met)
c.3769-4434T>G (n.3769-4434T>G)
c.3825T>G (p.Ile1275Met)
n.612-14789A>C
c.3471T>G (p.Ile1157Met)
c.3114T>G (p.Ile1038Met)
2g.166233406A>GCA429900500SCN1A-AS1,SCN9Ac.3858T>C (p.Ile1286=)
c.3769-4434T>C (n.3769-4434T>C)
c.3825T>C (p.Ile1275=)
n.612-14789A>G
c.3471T>C (p.Ile1157=)
c.3114T>C (p.Ile1038=)
 gnomAD v4
2g.166233406A>TCA429900501SCN1A-AS1,SCN9Ac.3858T>A (p.Ile1286=)
c.3769-4434T>A (n.3769-4434T>A)
c.3825T>A (p.Ile1275=)
n.612-14789A>T
c.3471T>A (p.Ile1157=)
c.3114T>A (p.Ile1038=)
2g.166233407A>CCA349066522SCN1A-AS1,SCN9Ac.3857T>G (p.Ile1286Ser)
c.3769-4435T>G (n.3769-4435T>G)
c.3824T>G (p.Ile1275Ser)
n.612-14788A>C
c.3470T>G (p.Ile1157Ser)
c.3113T>G (p.Ile1038Ser)
2g.166233407A>GCA349066524SCN1A-AS1,SCN9Ac.3857T>C (p.Ile1286Thr)
c.3769-4435T>C (n.3769-4435T>C)
c.3824T>C (p.Ile1275Thr)
n.612-14788A>G
c.3470T>C (p.Ile1157Thr)
c.3113T>C (p.Ile1038Thr)
 gnomAD v4
2g.166233407A>TCA349066526SCN1A-AS1,SCN9Ac.3857T>A (p.Ile1286Asn)
c.3769-4435T>A (n.3769-4435T>A)
c.3824T>A (p.Ile1275Asn)
n.612-14788A>T
c.3470T>A (p.Ile1157Asn)
c.3113T>A (p.Ile1038Asn)
2g.166233408T>ACA349066530SCN1A-AS1,SCN9Ac.3856A>T (p.Ile1286Phe)
c.3769-4436A>T (n.3769-4436A>T)
c.3823A>T (p.Ile1275Phe)
n.612-14787T>A
c.3469A>T (p.Ile1157Phe)
c.3112A>T (p.Ile1038Phe)
2g.166233408T>CCA349066533SCN1A-AS1,SCN9Ac.3856A>G (p.Ile1286Val)
c.3769-4436A>G (n.3769-4436A>G)
c.3823A>G (p.Ile1275Val)
n.612-14787T>C
c.3469A>G (p.Ile1157Val)
c.3112A>G (p.Ile1038Val)
 ClinVar dbSNP gnomAD v4
2g.166233408T>GCA349066529SCN1A-AS1,SCN9Ac.3856A>C (p.Ile1286Leu)
c.3769-4436A>C (n.3769-4436A>C)
c.3823A>C (p.Ile1275Leu)
n.612-14787T>G
c.3469A>C (p.Ile1157Leu)
c.3112A>C (p.Ile1038Leu)
2g.166233408T=CA1304946792SCN1A-AS1,SCN9Ac.3856A= (p.Ile1286=)
c.3769-4436A= (n.3769-4436A=)
c.3823A= (p.Ile1275=)
n.612-14787T=
c.3469A= (p.Ile1157=)
c.3112A= (p.Ile1038=)
2g.166233409G>ACA1943990SCN1A-AS1,SCN9Ac.3855C>T (p.Pro1285=)
c.3769-4437C>T (n.3769-4437C>T)
c.3822C>T (p.Pro1274=)
n.612-14786G>A
c.3468C>T (p.Pro1156=)
c.3111C>T (p.Pro1037=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166233409G>CCA429900503SCN1A-AS1,SCN9Ac.3855C>G (p.Pro1285=)
c.3769-4437C>G (n.3769-4437C>G)
c.3822C>G (p.Pro1274=)
n.612-14786G>C
c.3468C>G (p.Pro1156=)
c.3111C>G (p.Pro1037=)
2g.166233409G=CA1304946797SCN1A-AS1,SCN9Ac.3855C= (p.Pro1285=)
c.3769-4437C= (n.3769-4437C=)
c.3822C= (p.Pro1274=)
n.612-14786G=
c.3468C= (p.Pro1156=)
c.3111C= (p.Pro1037=)
2g.166233409G>TCA429900502SCN1A-AS1,SCN9Ac.3855C>A (p.Pro1285=)
c.3769-4437C>A (n.3769-4437C>A)
c.3822C>A (p.Pro1274=)
n.612-14786G>T
c.3468C>A (p.Pro1156=)
c.3111C>A (p.Pro1037=)
 gnomAD v4
2g.166233410G>ACA349066538SCN1A-AS1,SCN9Ac.3854C>T (p.Pro1285Leu)
c.3769-4438C>T (n.3769-4438C>T)
c.3821C>T (p.Pro1274Leu)
n.612-14785G>A
c.3467C>T (p.Pro1156Leu)
c.3110C>T (p.Pro1037Leu)
 gnomAD v4
2g.166233410G>CCA349066539SCN1A-AS1,SCN9Ac.3854C>G (p.Pro1285Arg)
c.3769-4438C>G (n.3769-4438C>G)
c.3821C>G (p.Pro1274Arg)
n.612-14785G>C
c.3467C>G (p.Pro1156Arg)
c.3110C>G (p.Pro1037Arg)
2g.166233410G>TCA349066541SCN1A-AS1,SCN9Ac.3854C>A (p.Pro1285His)
c.3769-4438C>A (n.3769-4438C>A)
c.3821C>A (p.Pro1274His)
n.612-14785G>T
c.3467C>A (p.Pro1156His)
c.3110C>A (p.Pro1037His)
2g.166233411G>ACA349066548SCN1A-AS1,SCN9Ac.3853C>T (p.Pro1285Ser)
c.3769-4439C>T (n.3769-4439C>T)
c.3820C>T (p.Pro1274Ser)
n.612-14784G>A
c.3466C>T (p.Pro1156Ser)
c.3109C>T (p.Pro1037Ser)
 gnomAD v4
2g.166233411G>CCA349066546SCN1A-AS1,SCN9Ac.3853C>G (p.Pro1285Ala)
c.3769-4439C>G (n.3769-4439C>G)
c.3820C>G (p.Pro1274Ala)
n.612-14784G>C
c.3466C>G (p.Pro1156Ala)
c.3109C>G (p.Pro1037Ala)
 gnomAD v4
2g.166233411G>TCA349066544SCN1A-AS1,SCN9Ac.3853C>A (p.Pro1285Thr)
c.3769-4439C>A (n.3769-4439C>A)
c.3820C>A (p.Pro1274Thr)
n.612-14784G>T
c.3466C>A (p.Pro1156Thr)
c.3109C>A (p.Pro1037Thr)
2g.166233412G>ACA429900506SCN1A-AS1,SCN9Ac.3852C>T (p.Gly1284=)
c.3769-4440C>T (n.3769-4440C>T)
c.3819C>T (p.Gly1273=)
n.612-14783G>A
c.3465C>T (p.Gly1155=)
c.3108C>T (p.Gly1036=)
 gnomAD v4
2g.166233412G>CCA429900505SCN1A-AS1,SCN9Ac.3852C>G (p.Gly1284=)
c.3769-4440C>G (n.3769-4440C>G)
c.3819C>G (p.Gly1273=)
n.612-14783G>C
c.3465C>G (p.Gly1155=)
c.3108C>G (p.Gly1036=)
2g.166233412G=CA1304946802SCN1A-AS1,SCN9Ac.3852C= (p.Gly1284=)
c.3769-4440C= (n.3769-4440C=)
c.3819C= (p.Gly1273=)
n.612-14783G=
c.3465C= (p.Gly1155=)
c.3108C= (p.Gly1036=)
2g.166233412G>TCA429900504SCN1A-AS1,SCN9Ac.3852C>A (p.Gly1284=)
c.3769-4440C>A (n.3769-4440C>A)
c.3819C>A (p.Gly1273=)
n.612-14783G>T
c.3465C>A (p.Gly1155=)
c.3108C>A (p.Gly1036=)
 dbSNP gnomAD v4
2g.166233413C>ACA349066551SCN1A-AS1,SCN9Ac.3851G>T (p.Gly1284Val)
c.3769-4441G>T (n.3769-4441G>T)
c.3818G>T (p.Gly1273Val)
n.612-14782C>A
c.3464G>T (p.Gly1155Val)
c.3107G>T (p.Gly1036Val)
 dbSNP gnomAD v4
2g.166233413C=CA1304946806SCN1A-AS1,SCN9Ac.3851G= (p.Gly1284=)
c.3769-4441G= (n.3769-4441G=)
c.3818G= (p.Gly1273=)
n.612-14782C=
c.3464G= (p.Gly1155=)
c.3107G= (p.Gly1036=)
2g.166233413C>GCA349066552SCN1A-AS1,SCN9Ac.3851G>C (p.Gly1284Ala)
c.3769-4441G>C (n.3769-4441G>C)
c.3818G>C (p.Gly1273Ala)
n.612-14782C>G
c.3464G>C (p.Gly1155Ala)
c.3107G>C (p.Gly1036Ala)
2g.166233413C>TCA349066553SCN1A-AS1,SCN9Ac.3851G>A (p.Gly1284Asp)
c.3769-4441G>A (n.3769-4441G>A)
c.3818G>A (p.Gly1273Asp)
n.612-14782C>T
c.3464G>A (p.Gly1155Asp)
c.3107G>A (p.Gly1036Asp)
 dbSNP
2g.166233414C>ACA349066555SCN1A-AS1,SCN9Ac.3850G>T (p.Gly1284Cys)
c.3769-4442G>T (n.3769-4442G>T)
c.3817G>T (p.Gly1273Cys)
n.612-14781C>A
c.3463G>T (p.Gly1155Cys)
c.3106G>T (p.Gly1036Cys)
2g.166233414C>GCA349066557SCN1A-AS1,SCN9Ac.3850G>C (p.Gly1284Arg)
c.3769-4442G>C (n.3769-4442G>C)
c.3817G>C (p.Gly1273Arg)
n.612-14781C>G
c.3463G>C (p.Gly1155Arg)
c.3106G>C (p.Gly1036Arg)
2g.166233414C>TCA349066558SCN1A-AS1,SCN9Ac.3850G>A (p.Gly1284Ser)
c.3769-4442G>A (n.3769-4442G>A)
c.3817G>A (p.Gly1273Ser)
n.612-14781C>T
c.3463G>A (p.Gly1155Ser)
c.3106G>A (p.Gly1036Ser)
 gnomAD v4
2g.166233415A>CCA429900507SCN1A-AS1,SCN9Ac.3849T>G (p.Leu1283=)
c.3769-4443T>G (n.3769-4443T>G)
c.3816T>G (p.Leu1272=)
n.612-14780A>C
c.3462T>G (p.Leu1154=)
c.3105T>G (p.Leu1035=)
2g.166233415A>GCA429900509SCN1A-AS1,SCN9Ac.3849T>C (p.Leu1283=)
c.3769-4443T>C (n.3769-4443T>C)
c.3816T>C (p.Leu1272=)
n.612-14780A>G
c.3462T>C (p.Leu1154=)
c.3105T>C (p.Leu1035=)
 gnomAD v4
2g.166233415A>TCA429900508SCN1A-AS1,SCN9Ac.3849T>A (p.Leu1283=)
c.3769-4443T>A (n.3769-4443T>A)
c.3816T>A (p.Leu1272=)
n.612-14780A>T
c.3462T>A (p.Leu1154=)
c.3105T>A (p.Leu1035=)
2g.166233416A>CCA349066560SCN1A-AS1,SCN9Ac.3848T>G (p.Leu1283Arg)
c.3769-4444T>G (n.3769-4444T>G)
c.3815T>G (p.Leu1272Arg)
n.612-14779A>C
c.3461T>G (p.Leu1154Arg)
c.3104T>G (p.Leu1035Arg)
 COSMIC COSMIC
2g.166233416A>GCA349066564SCN1A-AS1,SCN9Ac.3848T>C (p.Leu1283Pro)
c.3769-4444T>C (n.3769-4444T>C)
c.3815T>C (p.Leu1272Pro)
n.612-14779A>G
c.3461T>C (p.Leu1154Pro)
c.3104T>C (p.Leu1035Pro)
 gnomAD v4
2g.166233416A>TCA349066562SCN1A-AS1,SCN9Ac.3848T>A (p.Leu1283His)
c.3769-4444T>A (n.3769-4444T>A)
c.3815T>A (p.Leu1272His)
n.612-14779A>T
c.3461T>A (p.Leu1154His)
c.3104T>A (p.Leu1035His)
2g.166233417G>ACA349066567SCN1A-AS1,SCN9Ac.3847C>T (p.Leu1283Phe)
c.3769-4445C>T (n.3769-4445C>T)
c.3814C>T (p.Leu1272Phe)
n.612-14778G>A
c.3460C>T (p.Leu1154Phe)
c.3103C>T (p.Leu1035Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.166233417G>CCA349066570SCN1A-AS1,SCN9Ac.3847C>G (p.Leu1283Val)
c.3769-4445C>G (n.3769-4445C>G)
c.3814C>G (p.Leu1272Val)
n.612-14778G>C
c.3460C>G (p.Leu1154Val)
c.3103C>G (p.Leu1035Val)
2g.166233417G=CA1304946809SCN1A-AS1,SCN9Ac.3847C= (p.Leu1283=)
c.3769-4445C= (n.3769-4445C=)
c.3814C= (p.Leu1272=)
n.612-14778G=
c.3460C= (p.Leu1154=)
c.3103C= (p.Leu1035=)
2g.166233417G>TCA349066568SCN1A-AS1,SCN9Ac.3847C>A (p.Leu1283Ile)
c.3769-4445C>A (n.3769-4445C>A)
c.3814C>A (p.Leu1272Ile)
n.612-14778G>T
c.3460C>A (p.Leu1154Ile)
c.3103C>A (p.Leu1035Ile)
2g.166233418A>CCA349066573SCN1A-AS1,SCN9Ac.3846T>G (p.Asp1282Glu)
c.3769-4446T>G (n.3769-4446T>G)
c.3813T>G (p.Asp1271Glu)
n.612-14777A>C
c.3459T>G (p.Asp1153Glu)
c.3102T>G (p.Asp1034Glu)
2g.166233418A>GCA429900510SCN1A-AS1,SCN9Ac.3846T>C (p.Asp1282=)
c.3769-4446T>C (n.3769-4446T>C)
c.3813T>C (p.Asp1271=)
n.612-14777A>G
c.3459T>C (p.Asp1153=)
c.3102T>C (p.Asp1034=)
2g.166233418A>TCA349066575SCN1A-AS1,SCN9Ac.3846T>A (p.Asp1282Glu)
c.3769-4446T>A (n.3769-4446T>A)
c.3813T>A (p.Asp1271Glu)
n.612-14777A>T
c.3459T>A (p.Asp1153Glu)
c.3102T>A (p.Asp1034Glu)
2g.166233419T>ACA349066578SCN1A-AS1,SCN9Ac.3845A>T (p.Asp1282Val)
c.3769-4447A>T (n.3769-4447A>T)
c.3812A>T (p.Asp1271Val)
n.612-14776T>A
c.3458A>T (p.Asp1153Val)
c.3101A>T (p.Asp1034Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166233419T>CCA349066582SCN1A-AS1,SCN9Ac.3845A>G (p.Asp1282Gly)
c.3769-4447A>G (n.3769-4447A>G)
c.3812A>G (p.Asp1271Gly)
n.612-14776T>C
c.3458A>G (p.Asp1153Gly)
c.3101A>G (p.Asp1034Gly)
2g.166233419T>GCA349066580SCN1A-AS1,SCN9Ac.3845A>C (p.Asp1282Ala)
c.3769-4447A>C (n.3769-4447A>C)
c.3812A>C (p.Asp1271Ala)
n.612-14776T>G
c.3458A>C (p.Asp1153Ala)
c.3101A>C (p.Asp1034Ala)
2g.166233419T=CA1304946812SCN1A-AS1,SCN9Ac.3845A= (p.Asp1282=)
c.3769-4447A= (n.3769-4447A=)
c.3812A= (p.Asp1271=)
n.612-14776T=
c.3458A= (p.Asp1153=)
c.3101A= (p.Asp1034=)
2g.166233420C>ACA349066585SCN1A-AS1,SCN9Ac.3844G>T (p.Asp1282Tyr)
c.3769-4448G>T (n.3769-4448G>T)
c.3811G>T (p.Asp1271Tyr)
n.612-14775C>A
c.3457G>T (p.Asp1153Tyr)
c.3100G>T (p.Asp1034Tyr)
2g.166233420C=CA1304946814SCN1A-AS1,SCN9Ac.3844G= (p.Asp1282=)
c.3769-4448G= (n.3769-4448G=)
c.3811G= (p.Asp1271=)
n.612-14775C=
c.3457G= (p.Asp1153=)
c.3100G= (p.Asp1034=)
2g.166233420C>GCA59812144SCN1A-AS1,SCN9Ac.3844G>C (p.Asp1282His)
c.3769-4448G>C (n.3769-4448G>C)
c.3811G>C (p.Asp1271His)
n.612-14775C>G
c.3457G>C (p.Asp1153His)
c.3100G>C (p.Asp1034His)
 dbSNP
2g.166233420C>TCA349066587SCN1A-AS1,SCN9Ac.3844G>A (p.Asp1282Asn)
c.3769-4448G>A (n.3769-4448G>A)
c.3811G>A (p.Asp1271Asn)
n.612-14775C>T
c.3457G>A (p.Asp1153Asn)
c.3100G>A (p.Asp1034Asn)
2g.166233421T>ACA1943991SCN1A-AS1,SCN9Ac.3843A>T (p.Ser1281=)
c.3769-4449A>T (n.3769-4449A>T)
c.3810A>T (p.Ser1270=)
n.612-14774T>A
c.3456A>T (p.Ser1152=)
c.3099A>T (p.Ser1033=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233421T>CCA429900511SCN1A-AS1,SCN9Ac.3843A>G (p.Ser1281=)
c.3769-4449A>G (n.3769-4449A>G)
c.3810A>G (p.Ser1270=)
n.612-14774T>C
c.3456A>G (p.Ser1152=)
c.3099A>G (p.Ser1033=)
 gnomAD v4
2g.166233421T>GCA429900512SCN1A-AS1,SCN9Ac.3843A>C (p.Ser1281=)
c.3769-4449A>C (n.3769-4449A>C)
c.3810A>C (p.Ser1270=)
n.612-14774T>G
c.3456A>C (p.Ser1152=)
c.3099A>C (p.Ser1033=)
2g.166233421T=CA1304946822SCN1A-AS1,SCN9Ac.3843A= (p.Ser1281=)
c.3769-4449A= (n.3769-4449A=)
c.3810A= (p.Ser1270=)
n.612-14774T=
c.3456A= (p.Ser1152=)
c.3099A= (p.Ser1033=)
2g.166233422G>ACA349066590SCN1A-AS1,SCN9Ac.3842C>T (p.Ser1281Leu)
c.3769-4450C>T (n.3769-4450C>T)
c.3809C>T (p.Ser1270Leu)
n.612-14773G>A
c.3455C>T (p.Ser1152Leu)
c.3098C>T (p.Ser1033Leu)
 gnomAD v4
2g.166233422G>CCA349066591SCN1A-AS1,SCN9Ac.3842C>G (p.Ser1281Ter)
c.3769-4450C>G (n.3769-4450C>G)
c.3809C>G (p.Ser1270Ter)
n.612-14773G>C
c.3455C>G (p.Ser1152Ter)
c.3098C>G (p.Ser1033Ter)
2g.166233422G>TCA349066592SCN1A-AS1,SCN9Ac.3842C>A (p.Ser1281Ter)
c.3769-4450C>A (n.3769-4450C>A)
c.3809C>A (p.Ser1270Ter)
n.612-14773G>T
c.3455C>A (p.Ser1152Ter)
c.3098C>A (p.Ser1033Ter)
2g.166233423A>CCA349066594SCN1A-AS1,SCN9Ac.3841T>G (p.Ser1281Ala)
c.3769-4451T>G (n.3769-4451T>G)
c.3808T>G (p.Ser1270Ala)
n.612-14772A>C
c.3454T>G (p.Ser1152Ala)
c.3097T>G (p.Ser1033Ala)
2g.166233423A>GCA349066596SCN1A-AS1,SCN9Ac.3841T>C (p.Ser1281Pro)
c.3769-4451T>C (n.3769-4451T>C)
c.3808T>C (p.Ser1270Pro)
n.612-14772A>G
c.3454T>C (p.Ser1152Pro)
c.3097T>C (p.Ser1033Pro)
 gnomAD v4
2g.166233423A>TCA349066597SCN1A-AS1,SCN9Ac.3841T>A (p.Ser1281Thr)
c.3769-4451T>A (n.3769-4451T>A)
c.3808T>A (p.Ser1270Thr)
n.612-14772A>T
c.3454T>A (p.Ser1152Thr)
c.3097T>A (p.Ser1033Thr)
2g.166233424G>ACA429900513SCN1A-AS1,SCN9Ac.3840C>T (p.Tyr1280=)
c.3769-4452C>T (n.3769-4452C>T)
c.3807C>T (p.Tyr1269=)
n.612-14771G>A
c.3453C>T (p.Tyr1151=)
c.3096C>T (p.Tyr1032=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166233424G>CCA349066600SCN1A-AS1,SCN9Ac.3840C>G (p.Tyr1280Ter)
c.3769-4452C>G (n.3769-4452C>G)
c.3807C>G (p.Tyr1269Ter)
n.612-14771G>C
c.3453C>G (p.Tyr1151Ter)
c.3096C>G (p.Tyr1032Ter)
2g.166233424G=CA1304946826SCN1A-AS1,SCN9Ac.3840C= (p.Tyr1280=)
c.3769-4452C= (n.3769-4452C=)
c.3807C= (p.Tyr1269=)
n.612-14771G=
c.3453C= (p.Tyr1151=)
c.3096C= (p.Tyr1032=)
2g.166233424G>TCA349066599SCN1A-AS1,SCN9Ac.3840C>A (p.Tyr1280Ter)
c.3769-4452C>A (n.3769-4452C>A)
c.3807C>A (p.Tyr1269Ter)
n.612-14771G>T
c.3453C>A (p.Tyr1151Ter)
c.3096C>A (p.Tyr1032Ter)
 gnomAD v4
2g.166233425T>ACA349066601SCN1A-AS1,SCN9Ac.3839A>T (p.Tyr1280Phe)
c.3769-4453A>T (n.3769-4453A>T)
c.3806A>T (p.Tyr1269Phe)
n.612-14770T>A
c.3452A>T (p.Tyr1151Phe)
c.3095A>T (p.Tyr1032Phe)
 ClinVar
2g.166233425T>CCA59812152SCN1A-AS1,SCN9Ac.3839A>G (p.Tyr1280Cys)
c.3769-4453A>G (n.3769-4453A>G)
c.3806A>G (p.Tyr1269Cys)
n.612-14770T>C
c.3452A>G (p.Tyr1151Cys)
c.3095A>G (p.Tyr1032Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166233425T>GCA349066605SCN1A-AS1,SCN9Ac.3839A>C (p.Tyr1280Ser)
c.3769-4453A>C (n.3769-4453A>C)
c.3806A>C (p.Tyr1269Ser)
n.612-14770T>G
c.3452A>C (p.Tyr1151Ser)
c.3095A>C (p.Tyr1032Ser)
 ClinVar dbSNP
2g.166233425T=CA1304946833SCN1A-AS1,SCN9Ac.3839A= (p.Tyr1280=)
c.3769-4453A= (n.3769-4453A=)
c.3806A= (p.Tyr1269=)
n.612-14770T=
c.3452A= (p.Tyr1151=)
c.3095A= (p.Tyr1032=)
2g.166233425_166233426insGGCCACA2606309735SCN1A-AS1,SCN9Ac.3838_3839insTGGCC (p.Tyr1280LeufsTer15)
c.3769-4454_3769-4453insTGGCC (n.3769-4454_3769-4453insTGGCC)
c.3805_3806insTGGCC (p.Tyr1269LeufsTer15)
n.612-14770_612-14769insGGCCA
c.3451_3452insTGGCC (p.Tyr1151LeufsTer15)
c.3094_3095insTGGCC (p.Tyr1032LeufsTer15)
 gnomAD v3 gnomAD v4
2g.166233426A=CA1304946842SCN1A-AS1,SCN9Ac.3838T= (p.Tyr1280=)
c.3769-4454T= (n.3769-4454T=)
c.3805T= (p.Tyr1269=)
n.612-14769A=
c.3451T= (p.Tyr1151=)
c.3094T= (p.Tyr1032=)
2g.166233426A>CCA349066608SCN1A-AS1,SCN9Ac.3838T>G (p.Tyr1280Asp)
c.3769-4454T>G (n.3769-4454T>G)
c.3805T>G (p.Tyr1269Asp)
n.612-14769A>C
c.3451T>G (p.Tyr1151Asp)
c.3094T>G (p.Tyr1032Asp)
2g.166233426A>GCA349066611SCN1A-AS1,SCN9Ac.3838T>C (p.Tyr1280His)
c.3769-4454T>C (n.3769-4454T>C)
c.3805T>C (p.Tyr1269His)
n.612-14769A>G
c.3451T>C (p.Tyr1151His)
c.3094T>C (p.Tyr1032His)
 dbSNP gnomAD v3 gnomAD v4
2g.166233426A>TCA349066613SCN1A-AS1,SCN9Ac.3838T>A (p.Tyr1280Asn)
c.3769-4454T>A (n.3769-4454T>A)
c.3805T>A (p.Tyr1269Asn)
n.612-14769A>T
c.3451T>A (p.Tyr1151Asn)
c.3094T>A (p.Tyr1032Asn)
 ClinVar dbSNP
2g.166233427G>ACA429900514SCN1A-AS1,SCN9Ac.3837C>T (p.Gly1279=)
c.3769-4455C>T (n.3769-4455C>T)
c.3804C>T (p.Gly1268=)
n.612-14768G>A
c.3450C>T (p.Gly1150=)
c.3093C>T (p.Gly1031=)
2g.166233427G>CCA429900515SCN1A-AS1,SCN9Ac.3837C>G (p.Gly1279=)
c.3769-4455C>G (n.3769-4455C>G)
c.3804C>G (p.Gly1268=)
n.612-14768G>C
c.3450C>G (p.Gly1150=)
c.3093C>G (p.Gly1031=)
2g.166233427G>TCA429900516SCN1A-AS1,SCN9Ac.3837C>A (p.Gly1279=)
c.3769-4455C>A (n.3769-4455C>A)
c.3804C>A (p.Gly1268=)
n.612-14768G>T
c.3450C>A (p.Gly1150=)
c.3093C>A (p.Gly1031=)
2g.166233427_166233428insATCTGAGTATCA2606309736SCN1A-AS1,SCN9Ac.3836_3837insATACTCAGAT (p.Gly1284LeufsTer7)
c.3769-4456_3769-4455insATACTCAGAT (n.3769-4456_3769-4455insATACTCAGAT)
c.3803_3804insATACTCAGAT (p.Gly1273LeufsTer7)
n.612-14768_612-14767insATCTGAGTAT
c.3449_3450insATACTCAGAT (p.Gly1155LeufsTer7)
c.3092_3093insATACTCAGAT (p.Gly1036LeufsTer7)
 gnomAD v3 gnomAD v4
2g.166233428C>ACA349066616SCN1A-AS1,SCN9Ac.3836G>T (p.Gly1279Val)
c.3769-4456G>T (n.3769-4456G>T)
c.3803G>T (p.Gly1268Val)
n.612-14767C>A
c.3449G>T (p.Gly1150Val)
c.3092G>T (p.Gly1031Val)
 gnomAD v4
2g.166233428C>GCA349066619SCN1A-AS1,SCN9Ac.3836G>C (p.Gly1279Ala)
c.3769-4456G>C (n.3769-4456G>C)
c.3803G>C (p.Gly1268Ala)
n.612-14767C>G
c.3449G>C (p.Gly1150Ala)
c.3092G>C (p.Gly1031Ala)
 gnomAD v4
2g.166233428C>TCA349066618SCN1A-AS1,SCN9Ac.3836G>A (p.Gly1279Asp)
c.3769-4456G>A (n.3769-4456G>A)
c.3803G>A (p.Gly1268Asp)
n.612-14767C>T
c.3449G>A (p.Gly1150Asp)
c.3092G>A (p.Gly1031Asp)
2g.166233429C>ACA349066620SCN1A-AS1,SCN9Ac.3835G>T (p.Gly1279Cys)
c.3769-4457G>T (n.3769-4457G>T)
c.3802G>T (p.Gly1268Cys)
n.612-14766C>A
c.3448G>T (p.Gly1150Cys)
c.3091G>T (p.Gly1031Cys)
 gnomAD v4
2g.166233429C=CA1304946849SCN1A-AS1,SCN9Ac.3835G= (p.Gly1279=)
c.3769-4457G= (n.3769-4457G=)
c.3802G= (p.Gly1268=)
n.612-14766C=
c.3448G= (p.Gly1150=)
c.3091G= (p.Gly1031=)
2g.166233429C>GCA349066622SCN1A-AS1,SCN9Ac.3835G>C (p.Gly1279Arg)
c.3769-4457G>C (n.3769-4457G>C)
c.3802G>C (p.Gly1268Arg)
n.612-14766C>G
c.3448G>C (p.Gly1150Arg)
c.3091G>C (p.Gly1031Arg)
2g.166233429C>TCA349066624SCN1A-AS1,SCN9Ac.3835G>A (p.Gly1279Ser)
c.3769-4457G>A (n.3769-4457G>A)
c.3802G>A (p.Gly1268Ser)
n.612-14766C>T
c.3448G>A (p.Gly1150Ser)
c.3091G>A (p.Gly1031Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166233430A=CA1304946854SCN1A-AS1,SCN9Ac.3834T= (p.Leu1278=)
c.3769-4458T= (n.3769-4458T=)
c.3801T= (p.Leu1267=)
n.612-14765A=
c.3447T= (p.Leu1149=)
c.3090T= (p.Leu1030=)
2g.166233430A>CCA429900519SCN1A-AS1,SCN9Ac.3834T>G (p.Leu1278=)
c.3769-4458T>G (n.3769-4458T>G)
c.3801T>G (p.Leu1267=)
n.612-14765A>C
c.3447T>G (p.Leu1149=)
c.3090T>G (p.Leu1030=)
 ClinVar dbSNP
2g.166233430A>GCA429900518SCN1A-AS1,SCN9Ac.3834T>C (p.Leu1278=)
c.3769-4458T>C (n.3769-4458T>C)
c.3801T>C (p.Leu1267=)
n.612-14765A>G
c.3447T>C (p.Leu1149=)
c.3090T>C (p.Leu1030=)
 gnomAD v4
2g.166233430A>TCA429900517SCN1A-AS1,SCN9Ac.3834T>A (p.Leu1278=)
c.3769-4458T>A (n.3769-4458T>A)
c.3801T>A (p.Leu1267=)
n.612-14765A>T
c.3447T>A (p.Leu1149=)
c.3090T>A (p.Leu1030=)
2g.166233431A=CA1304946861SCN1A-AS1,SCN9Ac.3833T= (p.Leu1278=)
c.3769-4459T= (n.3769-4459T=)
c.3800T= (p.Leu1267=)
n.612-14764A=
c.3446T= (p.Leu1149=)
c.3089T= (p.Leu1030=)
2g.166233431A>CCA59812155SCN1A-AS1,SCN9Ac.3833T>G (p.Leu1278Arg)
c.3769-4459T>G (n.3769-4459T>G)
c.3800T>G (p.Leu1267Arg)
n.612-14764A>C
c.3446T>G (p.Leu1149Arg)
c.3089T>G (p.Leu1030Arg)
 dbSNP
2g.166233431A>GCA349066627SCN1A-AS1,SCN9Ac.3833T>C (p.Leu1278Pro)
c.3769-4459T>C (n.3769-4459T>C)
c.3800T>C (p.Leu1267Pro)
n.612-14764A>G
c.3446T>C (p.Leu1149Pro)
c.3089T>C (p.Leu1030Pro)
 gnomAD v4
2g.166233431A>TCA349066629SCN1A-AS1,SCN9Ac.3833T>A (p.Leu1278His)
c.3769-4459T>A (n.3769-4459T>A)
c.3800T>A (p.Leu1267His)
n.612-14764A>T
c.3446T>A (p.Leu1149His)
c.3089T>A (p.Leu1030His)
2g.166233432G>ACA349066631SCN1A-AS1,SCN9Ac.3832C>T (p.Leu1278Phe)
c.3769-4460C>T (n.3769-4460C>T)
c.3799C>T (p.Leu1267Phe)
n.612-14763G>A
c.3445C>T (p.Leu1149Phe)
c.3088C>T (p.Leu1030Phe)
2g.166233432G>CCA201841SCN1A-AS1,SCN9Ac.3832C>G (p.Leu1278Val)
c.3769-4460C>G (n.3769-4460C>G)
c.3799C>G (p.Leu1267Val)
n.612-14763G>C
c.3445C>G (p.Leu1149Val)
c.3088C>G (p.Leu1030Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166233432G=CA1304946868SCN1A-AS1,SCN9Ac.3832C= (p.Leu1278=)
c.3769-4460C= (n.3769-4460C=)
c.3799C= (p.Leu1267=)
n.612-14763G=
c.3445C= (p.Leu1149=)
c.3088C= (p.Leu1030=)
2g.166233432G>TCA349066635SCN1A-AS1,SCN9Ac.3832C>A (p.Leu1278Ile)
c.3769-4460C>A (n.3769-4460C>A)
c.3799C>A (p.Leu1267Ile)
n.612-14763G>T
c.3445C>A (p.Leu1149Ile)
c.3088C>A (p.Leu1030Ile)
2g.166233433A>CCA429900520SCN1A-AS1,SCN9Ac.3831T>G (p.Thr1277=)
c.3769-4461T>G (n.3769-4461T>G)
c.3798T>G (p.Thr1266=)
n.612-14762A>C
c.3444T>G (p.Thr1148=)
c.3087T>G (p.Thr1029=)
2g.166233433A>GCA429900522SCN1A-AS1,SCN9Ac.3831T>C (p.Thr1277=)
c.3769-4461T>C (n.3769-4461T>C)
c.3798T>C (p.Thr1266=)
n.612-14762A>G
c.3444T>C (p.Thr1148=)
c.3087T>C (p.Thr1029=)
 gnomAD v4
2g.166233433A>TCA429900521SCN1A-AS1,SCN9Ac.3831T>A (p.Thr1277=)
c.3769-4461T>A (n.3769-4461T>A)
c.3798T>A (p.Thr1266=)
n.612-14762A>T
c.3444T>A (p.Thr1148=)
c.3087T>A (p.Thr1029=)
2g.166233434G>ACA349066638SCN1A-AS1,SCN9Ac.3830C>T (p.Thr1277Ile)
c.3769-4462C>T (n.3769-4462C>T)
c.3797C>T (p.Thr1266Ile)
n.612-14761G>A
c.3443C>T (p.Thr1148Ile)
c.3086C>T (p.Thr1029Ile)
2g.166233434G>CCA1943992SCN1A-AS1,SCN9Ac.3830C>G (p.Thr1277Ser)
c.3769-4462C>G (n.3769-4462C>G)
c.3797C>G (p.Thr1266Ser)
n.612-14761G>C
c.3443C>G (p.Thr1148Ser)
c.3086C>G (p.Thr1029Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233434G=CA1304946875SCN1A-AS1,SCN9Ac.3830C= (p.Thr1277=)
c.3769-4462C= (n.3769-4462C=)
c.3797C= (p.Thr1266=)
n.612-14761G=
c.3443C= (p.Thr1148=)
c.3086C= (p.Thr1029=)
2g.166233434G>TCA349066641SCN1A-AS1,SCN9Ac.3830C>A (p.Thr1277Asn)
c.3769-4462C>A (n.3769-4462C>A)
c.3797C>A (p.Thr1266Asn)
n.612-14761G>T
c.3443C>A (p.Thr1148Asn)
c.3086C>A (p.Thr1029Asn)
2g.166233435T>ACA349066644SCN1A-AS1,SCN9Ac.3829A>T (p.Thr1277Ser)
c.3769-4463A>T (n.3769-4463A>T)
c.3796A>T (p.Thr1266Ser)
n.612-14760T>A
c.3442A>T (p.Thr1148Ser)
c.3085A>T (p.Thr1029Ser)
2g.166233435T>CCA349066648SCN1A-AS1,SCN9Ac.3829A>G (p.Thr1277Ala)
c.3769-4463A>G (n.3769-4463A>G)
c.3796A>G (p.Thr1266Ala)
n.612-14760T>C
c.3442A>G (p.Thr1148Ala)
c.3085A>G (p.Thr1029Ala)
2g.166233435T>GCA349066646SCN1A-AS1,SCN9Ac.3829A>C (p.Thr1277Pro)
c.3769-4463A>C (n.3769-4463A>C)
c.3796A>C (p.Thr1266Pro)
n.612-14760T>G
c.3442A>C (p.Thr1148Pro)
c.3085A>C (p.Thr1029Pro)
2g.166233436G>ACA429900523SCN1A-AS1,SCN9Ac.3828C>T (p.Asn1276=)
c.3769-4464C>T (n.3769-4464C>T)
c.3795C>T (p.Asn1265=)
n.612-14759G>A
c.3441C>T (p.Asn1147=)
c.3084C>T (p.Asn1028=)
 gnomAD v4
2g.166233436G>CCA349066651SCN1A-AS1,SCN9Ac.3828C>G (p.Asn1276Lys)
c.3769-4464C>G (n.3769-4464C>G)
c.3795C>G (p.Asn1265Lys)
n.612-14759G>C
c.3441C>G (p.Asn1147Lys)
c.3084C>G (p.Asn1028Lys)
2g.166233436G>TCA349066653SCN1A-AS1,SCN9Ac.3828C>A (p.Asn1276Lys)
c.3769-4464C>A (n.3769-4464C>A)
c.3795C>A (p.Asn1265Lys)
n.612-14759G>T
c.3441C>A (p.Asn1147Lys)
c.3084C>A (p.Asn1028Lys)
2g.166233437T>ACA349066655SCN1A-AS1,SCN9Ac.3827A>T (p.Asn1276Ile)
c.3769-4465A>T (n.3769-4465A>T)
c.3794A>T (p.Asn1265Ile)
n.612-14758T>A
c.3440A>T (p.Asn1147Ile)
c.3083A>T (p.Asn1028Ile)
 ClinVar dbSNP
2g.166233437T>CCA349066657SCN1A-AS1,SCN9Ac.3827A>G (p.Asn1276Ser)
c.3769-4465A>G (n.3769-4465A>G)
c.3794A>G (p.Asn1265Ser)
n.612-14758T>C
c.3440A>G (p.Asn1147Ser)
c.3083A>G (p.Asn1028Ser)
2g.166233437T>GCA349066659SCN1A-AS1,SCN9Ac.3827A>C (p.Asn1276Thr)
c.3769-4465A>C (n.3769-4465A>C)
c.3794A>C (p.Asn1265Thr)
n.612-14758T>G
c.3440A>C (p.Asn1147Thr)
c.3083A>C (p.Asn1028Thr)
2g.166233437T=CA1304946887SCN1A-AS1,SCN9Ac.3827A= (p.Asn1276=)
c.3769-4465A= (n.3769-4465A=)
c.3794A= (p.Asn1265=)
n.612-14758T=
c.3440A= (p.Asn1147=)
c.3083A= (p.Asn1028=)
2g.166233438T>ACA349066666SCN1A-AS1,SCN9Ac.3826A>T (p.Asn1276Tyr)
c.3769-4466A>T (n.3769-4466A>T)
c.3793A>T (p.Asn1265Tyr)
n.612-14757T>A
c.3439A>T (p.Asn1147Tyr)
c.3082A>T (p.Asn1028Tyr)
2g.166233438T>CCA349066664SCN1A-AS1,SCN9Ac.3826A>G (p.Asn1276Asp)
c.3769-4466A>G (n.3769-4466A>G)
c.3793A>G (p.Asn1265Asp)
n.612-14757T>C
c.3439A>G (p.Asn1147Asp)
c.3082A>G (p.Asn1028Asp)
 ClinVar dbSNP gnomAD v4
2g.166233438T>GCA349066662SCN1A-AS1,SCN9Ac.3826A>C (p.Asn1276His)
c.3769-4466A>C (n.3769-4466A>C)
c.3793A>C (p.Asn1265His)
n.612-14757T>G
c.3439A>C (p.Asn1147His)
c.3082A>C (p.Asn1028His)
2g.166233438T=CA1304946891SCN1A-AS1,SCN9Ac.3826A= (p.Asn1276=)
c.3769-4466A= (n.3769-4466A=)
c.3793A= (p.Asn1265=)
n.612-14757T=
c.3439A= (p.Asn1147=)
c.3082A= (p.Asn1028=)
2g.166233439T>ACA429900524SCN1A-AS1,SCN9Ac.3825A>T (p.Ala1275=)
c.3769-4467A>T (n.3769-4467A>T)
c.3792A>T (p.Ala1264=)
n.612-14756T>A
c.3438A>T (p.Ala1146=)
c.3081A>T (p.Ala1027=)
2g.166233439T>CCA429900525SCN1A-AS1,SCN9Ac.3825A>G (p.Ala1275=)
c.3769-4467A>G (n.3769-4467A>G)
c.3792A>G (p.Ala1264=)
n.612-14756T>C
c.3438A>G (p.Ala1146=)
c.3081A>G (p.Ala1027=)
 gnomAD v4
2g.166233439T>GCA429900526SCN1A-AS1,SCN9Ac.3825A>C (p.Ala1275=)
c.3769-4467A>C (n.3769-4467A>C)
c.3792A>C (p.Ala1264=)
n.612-14756T>G
c.3438A>C (p.Ala1146=)
c.3081A>C (p.Ala1027=)
2g.166233440G>ACA349066667SCN1A-AS1,SCN9Ac.3824C>T (p.Ala1275Val)
c.3769-4468C>T (n.3769-4468C>T)
c.3791C>T (p.Ala1264Val)
n.612-14755G>A
c.3437C>T (p.Ala1146Val)
c.3080C>T (p.Ala1027Val)
 dbSNP gnomAD v3 gnomAD v4
2g.166233440G>CCA349066668SCN1A-AS1,SCN9Ac.3824C>G (p.Ala1275Gly)
c.3769-4468C>G (n.3769-4468C>G)
c.3791C>G (p.Ala1264Gly)
n.612-14755G>C
c.3437C>G (p.Ala1146Gly)
c.3080C>G (p.Ala1027Gly)
 gnomAD v4
2g.166233440G=CA1304946894SCN1A-AS1,SCN9Ac.3824C= (p.Ala1275=)
c.3769-4468C= (n.3769-4468C=)
c.3791C= (p.Ala1264=)
n.612-14755G=
c.3437C= (p.Ala1146=)
c.3080C= (p.Ala1027=)
2g.166233440G>TCA349066672SCN1A-AS1,SCN9Ac.3824C>A (p.Ala1275Glu)
c.3769-4468C>A (n.3769-4468C>A)
c.3791C>A (p.Ala1264Glu)
n.612-14755G>T
c.3437C>A (p.Ala1146Glu)
c.3080C>A (p.Ala1027Glu)
 gnomAD v4
2g.166233441C>ACA349066674SCN1A-AS1,SCN9Ac.3823G>T (p.Ala1275Ser)
c.3769-4469G>T (n.3769-4469G>T)
c.3790G>T (p.Ala1264Ser)
n.612-14754C>A
c.3436G>T (p.Ala1146Ser)
c.3079G>T (p.Ala1027Ser)
 ClinVar dbSNP gnomAD v4
2g.166233441C=CA1304946899SCN1A-AS1,SCN9Ac.3823G= (p.Ala1275=)
c.3769-4469G= (n.3769-4469G=)
c.3790G= (p.Ala1264=)
n.612-14754C=
c.3436G= (p.Ala1146=)
c.3079G= (p.Ala1027=)
2g.166233441C>GCA349066676SCN1A-AS1,SCN9Ac.3823G>C (p.Ala1275Pro)
c.3769-4469G>C (n.3769-4469G>C)
c.3790G>C (p.Ala1264Pro)
n.612-14754C>G
c.3436G>C (p.Ala1146Pro)
c.3079G>C (p.Ala1027Pro)
2g.166233441C>TCA349066677SCN1A-AS1,SCN9Ac.3823G>A (p.Ala1275Thr)
c.3769-4469G>A (n.3769-4469G>A)
c.3790G>A (p.Ala1264Thr)
n.612-14754C>T
c.3436G>A (p.Ala1146Thr)
c.3079G>A (p.Ala1027Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.166233442C>ACA429900528SCN1A-AS1,SCN9Ac.3822G>T (p.Val1274=)
c.3769-4470G>T (n.3769-4470G>T)
c.3789G>T (p.Val1263=)
n.612-14753C>A
c.3435G>T (p.Val1145=)
c.3078G>T (p.Val1026=)
 dbSNP gnomAD v2
2g.166233442C=CA1304946902SCN1A-AS1,SCN9Ac.3822G= (p.Val1274=)
c.3769-4470G= (n.3769-4470G=)
c.3789G= (p.Val1263=)
n.612-14753C=
c.3435G= (p.Val1145=)
c.3078G= (p.Val1026=)
2g.166233442C>GCA429900529SCN1A-AS1,SCN9Ac.3822G>C (p.Val1274=)
c.3769-4470G>C (n.3769-4470G>C)
c.3789G>C (p.Val1263=)
n.612-14753C>G
c.3435G>C (p.Val1145=)
c.3078G>C (p.Val1026=)
2g.166233442C>TCA429900527SCN1A-AS1,SCN9Ac.3822G>A (p.Val1274=)
c.3769-4470G>A (n.3769-4470G>A)
c.3789G>A (p.Val1263=)
n.612-14753C>T
c.3435G>A (p.Val1145=)
c.3078G>A (p.Val1026=)
2g.166233443A>CCA349066679SCN1A-AS1,SCN9Ac.3821T>G (p.Val1274Gly)
c.3769-4471T>G (n.3769-4471T>G)
c.3788T>G (p.Val1263Gly)
n.612-14752A>C
c.3434T>G (p.Val1145Gly)
c.3077T>G (p.Val1026Gly)
 gnomAD v4
2g.166233443A>GCA349066683SCN1A-AS1,SCN9Ac.3821T>C (p.Val1274Ala)
c.3769-4471T>C (n.3769-4471T>C)
c.3788T>C (p.Val1263Ala)
n.612-14752A>G
c.3434T>C (p.Val1145Ala)
c.3077T>C (p.Val1026Ala)
 gnomAD v4
2g.166233443A>TCA349066681SCN1A-AS1,SCN9Ac.3821T>A (p.Val1274Glu)
c.3769-4471T>A (n.3769-4471T>A)
c.3788T>A (p.Val1263Glu)
n.612-14752A>T
c.3434T>A (p.Val1145Glu)
c.3077T>A (p.Val1026Glu)
2g.166233444C>ACA349066685SCN1A-AS1,SCN9Ac.3820G>T (p.Val1274Leu)
c.3769-4472G>T (n.3769-4472G>T)
c.3787G>T (p.Val1263Leu)
n.612-14751C>A
c.3433G>T (p.Val1145Leu)
c.3076G>T (p.Val1026Leu)
2g.166233444C=CA1304946907SCN1A-AS1,SCN9Ac.3820G= (p.Val1274=)
c.3769-4472G= (n.3769-4472G=)
c.3787G= (p.Val1263=)
n.612-14751C=
c.3433G= (p.Val1145=)
c.3076G= (p.Val1026=)
2g.166233444C>GCA349066688SCN1A-AS1,SCN9Ac.3820G>C (p.Val1274Leu)
c.3769-4472G>C (n.3769-4472G>C)
c.3787G>C (p.Val1263Leu)
n.612-14751C>G
c.3433G>C (p.Val1145Leu)
c.3076G>C (p.Val1026Leu)
2g.166233444C>TCA1943993SCN1A-AS1,SCN9Ac.3820G>A (p.Val1274Met)
c.3769-4472G>A (n.3769-4472G>A)
c.3787G>A (p.Val1263Met)
n.612-14751C>T
c.3433G>A (p.Val1145Met)
c.3076G>A (p.Val1026Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166233445T>ACA349066691SCN1A-AS1,SCN9Ac.3819A>T (p.Leu1273Phe)
c.3769-4473A>T (n.3769-4473A>T)
c.3786A>T (p.Leu1262Phe)
n.612-14750T>A
c.3432A>T (p.Leu1144Phe)
c.3075A>T (p.Leu1025Phe)
2g.166233445T>CCA429900530SCN1A-AS1,SCN9Ac.3819A>G (p.Leu1273=)
c.3769-4473A>G (n.3769-4473A>G)
c.3786A>G (p.Leu1262=)
n.612-14750T>C
c.3432A>G (p.Leu1144=)
c.3075A>G (p.Leu1025=)
2g.166233445T>GCA349066692SCN1A-AS1,SCN9Ac.3819A>C (p.Leu1273Phe)
c.3769-4473A>C (n.3769-4473A>C)
c.3786A>C (p.Leu1262Phe)
n.612-14750T>G
c.3432A>C (p.Leu1144Phe)
c.3075A>C (p.Leu1025Phe)
2g.166233445_166233446delinsTACA1304946912SCN1A-AS1,SCN9Ac.3818_3819delinsTA (p.Leu1273=)
c.3769-4474_3769-4473delinsTA (n.3769-4474_3769-4473delinsTA)
c.3785_3786delinsTA (p.Leu1262=)
n.612-14750_612-14749delinsTA
c.3431_3432delinsTA (p.Leu1144=)
c.3074_3075delinsTA (p.Leu1025=)
2g.166233446A>CCA349066696SCN1A-AS1,SCN9Ac.3818T>G (p.Leu1273Ter)
c.3769-4474T>G (n.3769-4474T>G)
c.3785T>G (p.Leu1262Ter)
n.612-14749A>C
c.3431T>G (p.Leu1144Ter)
c.3074T>G (p.Leu1025Ter)
2g.166233446A>GCA349066698SCN1A-AS1,SCN9Ac.3818T>C (p.Leu1273Ser)
c.3769-4474T>C (n.3769-4474T>C)
c.3785T>C (p.Leu1262Ser)
n.612-14749A>G
c.3431T>C (p.Leu1144Ser)
c.3074T>C (p.Leu1025Ser)
 gnomAD v4
2g.166233446A>TCA349066700SCN1A-AS1,SCN9Ac.3818T>A (p.Leu1273Ter)
c.3769-4474T>A (n.3769-4474T>A)
c.3785T>A (p.Leu1262Ter)
n.612-14749A>T
c.3431T>A (p.Leu1144Ter)
c.3074T>A (p.Leu1025Ter)
2g.166233448delCA537511604SCN1A-AS1,SCN9Ac.3818del (p.Leu1273Ter)
c.3769-4474del (n.3769-4474del)
c.3785del (p.Leu1262Ter)
n.612-14747del
c.3431del (p.Leu1144Ter)
c.3074del (p.Leu1025Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166233447A>CCA349066702SCN1A-AS1,SCN9Ac.3817T>G (p.Leu1273Val)
c.3769-4475T>G (n.3769-4475T>G)
c.3784T>G (p.Leu1262Val)
n.612-14748A>C
c.3430T>G (p.Leu1144Val)
c.3073T>G (p.Leu1025Val)
2g.166233447A>GCA429900531SCN1A-AS1,SCN9Ac.3817T>C (p.Leu1273=)
c.3769-4475T>C (n.3769-4475T>C)
c.3784T>C (p.Leu1262=)
n.612-14748A>G
c.3430T>C (p.Leu1144=)
c.3073T>C (p.Leu1025=)
 gnomAD v4
2g.166233447A>TCA349066703SCN1A-AS1,SCN9Ac.3817T>A (p.Leu1273Ile)
c.3769-4475T>A (n.3769-4475T>A)
c.3784T>A (p.Leu1262Ile)
n.612-14748A>T
c.3430T>A (p.Leu1144Ile)
c.3073T>A (p.Leu1025Ile)
2g.166233448A>CCA429900532SCN1A-AS1,SCN9Ac.3816T>G (p.Thr1272=)
c.3769-4476T>G (n.3769-4476T>G)
c.3783T>G (p.Thr1261=)
n.612-14747A>C
c.3429T>G (p.Thr1143=)
c.3072T>G (p.Thr1024=)
2g.166233448A>GCA429900533SCN1A-AS1,SCN9Ac.3816T>C (p.Thr1272=)
c.3769-4476T>C (n.3769-4476T>C)
c.3783T>C (p.Thr1261=)
n.612-14747A>G
c.3429T>C (p.Thr1143=)
c.3072T>C (p.Thr1024=)
2g.166233448A>TCA429900534SCN1A-AS1,SCN9Ac.3816T>A (p.Thr1272=)
c.3769-4476T>A (n.3769-4476T>A)
c.3783T>A (p.Thr1261=)
n.612-14747A>T
c.3429T>A (p.Thr1143=)
c.3072T>A (p.Thr1024=)
2g.166233449G>ACA349066706SCN1A-AS1,SCN9Ac.3815C>T (p.Thr1272Ile)
c.3769-4477C>T (n.3769-4477C>T)
c.3782C>T (p.Thr1261Ile)
n.612-14746G>A
c.3428C>T (p.Thr1143Ile)
c.3071C>T (p.Thr1024Ile)
 ClinVar gnomAD v4
2g.166233449G>CCA349066710SCN1A-AS1,SCN9Ac.3815C>G (p.Thr1272Ser)
c.3769-4477C>G (n.3769-4477C>G)
c.3782C>G (p.Thr1261Ser)
n.612-14746G>C
c.3428C>G (p.Thr1143Ser)
c.3071C>G (p.Thr1024Ser)
2g.166233449G=CA1304946919SCN1A-AS1,SCN9Ac.3815C= (p.Thr1272=)
c.3769-4477C= (n.3769-4477C=)
c.3782C= (p.Thr1261=)
n.612-14746G=
c.3428C= (p.Thr1143=)
c.3071C= (p.Thr1024=)
2g.166233449G>TCA349066708SCN1A-AS1,SCN9Ac.3815C>A (p.Thr1272Asn)
c.3769-4477C>A (n.3769-4477C>A)
c.3782C>A (p.Thr1261Asn)
n.612-14746G>T
c.3428C>A (p.Thr1143Asn)
c.3071C>A (p.Thr1024Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.166233450T>ACA349066712SCN1A-AS1,SCN9Ac.3814A>T (p.Thr1272Ser)
c.3769-4478A>T (n.3769-4478A>T)
c.3781A>T (p.Thr1261Ser)
n.612-14745T>A
c.3427A>T (p.Thr1143Ser)
c.3070A>T (p.Thr1024Ser)
2g.166233450T>CCA349066716SCN1A-AS1,SCN9Ac.3814A>G (p.Thr1272Ala)
c.3769-4478A>G (n.3769-4478A>G)
c.3781A>G (p.Thr1261Ala)
n.612-14745T>C
c.3427A>G (p.Thr1143Ala)
c.3070A>G (p.Thr1024Ala)
 gnomAD v4
2g.166233450T>GCA349066714SCN1A-AS1,SCN9Ac.3814A>C (p.Thr1272Pro)
c.3769-4478A>C (n.3769-4478A>C)
c.3781A>C (p.Thr1261Pro)
n.612-14745T>G
c.3427A>C (p.Thr1143Pro)
c.3070A>C (p.Thr1024Pro)
2g.166233451A>CCA429900535SCN1A-AS1,SCN9Ac.3813T>G (p.Val1271=)
c.3769-4479T>G (n.3769-4479T>G)
c.3780T>G (p.Val1260=)
n.612-14744A>C
c.3426T>G (p.Val1142=)
c.3069T>G (p.Val1023=)
2g.166233451A>GCA429900536SCN1A-AS1,SCN9Ac.3813T>C (p.Val1271=)
c.3769-4479T>C (n.3769-4479T>C)
c.3780T>C (p.Val1260=)
n.612-14744A>G
c.3426T>C (p.Val1142=)
c.3069T>C (p.Val1023=)
 gnomAD v4
2g.166233451A>TCA429900537SCN1A-AS1,SCN9Ac.3813T>A (p.Val1271=)
c.3769-4479T>A (n.3769-4479T>A)
c.3780T>A (p.Val1260=)
n.612-14744A>T
c.3426T>A (p.Val1142=)
c.3069T>A (p.Val1023=)
2g.166233452A>CCA349066718SCN1A-AS1,SCN9Ac.3812T>G (p.Val1271Gly)
c.3769-4480T>G (n.3769-4480T>G)
c.3779T>G (p.Val1260Gly)
n.612-14743A>C
c.3425T>G (p.Val1142Gly)
c.3068T>G (p.Val1023Gly)
2g.166233452A>GCA349066720SCN1A-AS1,SCN9Ac.3812T>C (p.Val1271Ala)
c.3769-4480T>C (n.3769-4480T>C)
c.3779T>C (p.Val1260Ala)
n.612-14743A>G
c.3425T>C (p.Val1142Ala)
c.3068T>C (p.Val1023Ala)
 gnomAD v4
2g.166233452A>TCA349066722SCN1A-AS1,SCN9Ac.3812T>A (p.Val1271Asp)
c.3769-4480T>A (n.3769-4480T>A)
c.3779T>A (p.Val1260Asp)
n.612-14743A>T
c.3425T>A (p.Val1142Asp)
c.3068T>A (p.Val1023Asp)
2g.166233453C>ACA349066724SCN1A-AS1,SCN9Ac.3811G>T (p.Val1271Phe)
c.3769-4481G>T (n.3769-4481G>T)
c.3778G>T (p.Val1260Phe)
n.612-14742C>A
c.3424G>T (p.Val1142Phe)
c.3067G>T (p.Val1023Phe)
 gnomAD v4
2g.166233453C>GCA349066726SCN1A-AS1,SCN9Ac.3811G>C (p.Val1271Leu)
c.3769-4481G>C (n.3769-4481G>C)
c.3778G>C (p.Val1260Leu)
n.612-14742C>G
c.3424G>C (p.Val1142Leu)
c.3067G>C (p.Val1023Leu)
 gnomAD v4
2g.166233453C>TCA349066728SCN1A-AS1,SCN9Ac.3811G>A (p.Val1271Ile)
c.3769-4481G>A (n.3769-4481G>A)
c.3778G>A (p.Val1260Ile)
n.612-14742C>T
c.3424G>A (p.Val1142Ile)
c.3067G>A (p.Val1023Ile)
2g.166233454C>ACA59812165SCN1A-AS1,SCN9Ac.3810G>T (p.Leu1270Phe)
c.3769-4482G>T (n.3769-4482G>T)
c.3777G>T (p.Leu1259Phe)
n.612-14741C>A
c.3423G>T (p.Leu1141Phe)
c.3066G>T (p.Leu1022Phe)
 ClinVar dbSNP gnomAD v4
2g.166233454C=CA1304946926SCN1A-AS1,SCN9Ac.3810G= (p.Leu1270=)
c.3769-4482G= (n.3769-4482G=)
c.3777G= (p.Leu1259=)
n.612-14741C=
c.3423G= (p.Leu1141=)
c.3066G= (p.Leu1022=)
2g.166233454C>GCA349066731SCN1A-AS1,SCN9Ac.3810G>C (p.Leu1270Phe)
c.3769-4482G>C (n.3769-4482G>C)
c.3777G>C (p.Leu1259Phe)
n.612-14741C>G
c.3423G>C (p.Leu1141Phe)
c.3066G>C (p.Leu1022Phe)
2g.166233454C>TCA429900538SCN1A-AS1,SCN9Ac.3810G>A (p.Leu1270=)
c.3769-4482G>A (n.3769-4482G>A)
c.3777G>A (p.Leu1259=)
n.612-14741C>T
c.3423G>A (p.Leu1141=)
c.3066G>A (p.Leu1022=)
 dbSNP
2g.166233455A=CA1304946933SCN1A-AS1,SCN9Ac.3809T= (p.Leu1270=)
c.3769-4483T= (n.3769-4483T=)
c.3776T= (p.Leu1259=)
n.612-14740A=
c.3422T= (p.Leu1141=)
c.3065T= (p.Leu1022=)
2g.166233455A>CCA349066733SCN1A-AS1,SCN9Ac.3809T>G (p.Leu1270Trp)
c.3769-4483T>G (n.3769-4483T>G)
c.3776T>G (p.Leu1259Trp)
n.612-14740A>C
c.3422T>G (p.Leu1141Trp)
c.3065T>G (p.Leu1022Trp)
2g.166233455A>GCA59812169SCN1A-AS1,SCN9Ac.3809T>C (p.Leu1270Ser)
c.3769-4483T>C (n.3769-4483T>C)
c.3776T>C (p.Leu1259Ser)
n.612-14740A>G
c.3422T>C (p.Leu1141Ser)
c.3065T>C (p.Leu1022Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166233455A>TCA349066736SCN1A-AS1,SCN9Ac.3809T>A (p.Leu1270Ter)
c.3769-4483T>A (n.3769-4483T>A)
c.3776T>A (p.Leu1259Ter)
n.612-14740A>T
c.3422T>A (p.Leu1141Ter)
c.3065T>A (p.Leu1022Ter)
 dbSNP
2g.166233456A>CCA349066738SCN1A-AS1,SCN9Ac.3808T>G (p.Leu1270Val)
c.3769-4484T>G (n.3769-4484T>G)
c.3775T>G (p.Leu1259Val)
n.612-14739A>C
c.3421T>G (p.Leu1141Val)
c.3064T>G (p.Leu1022Val)
 gnomAD v4
2g.166233456A>GCA429900539SCN1A-AS1,SCN9Ac.3808T>C (p.Leu1270=)
c.3769-4484T>C (n.3769-4484T>C)
c.3775T>C (p.Leu1259=)
n.612-14739A>G
c.3421T>C (p.Leu1141=)
c.3064T>C (p.Leu1022=)
2g.166233456A>TCA349066740SCN1A-AS1,SCN9Ac.3808T>A (p.Leu1270Met)
c.3769-4484T>A (n.3769-4484T>A)
c.3775T>A (p.Leu1259Met)
n.612-14739A>T
c.3421T>A (p.Leu1141Met)
c.3064T>A (p.Leu1022Met)
2g.166233457A=CA1304946939SCN1A-AS1,SCN9Ac.3807T= (p.Ser1269=)
c.3769-4485T= (n.3769-4485T=)
c.3774T= (p.Ser1258=)
n.612-14738A=
c.3420T= (p.Ser1140=)
c.3063T= (p.Ser1021=)
2g.166233457A>CCA429900540SCN1A-AS1,SCN9Ac.3807T>G (p.Ser1269=)
c.3769-4485T>G (n.3769-4485T>G)
c.3774T>G (p.Ser1258=)
n.612-14738A>C
c.3420T>G (p.Ser1140=)
c.3063T>G (p.Ser1021=)
2g.166233457A>GCA429900541SCN1A-AS1,SCN9Ac.3807T>C (p.Ser1269=)
c.3769-4485T>C (n.3769-4485T>C)
c.3774T>C (p.Ser1258=)
n.612-14738A>G
c.3420T>C (p.Ser1140=)
c.3063T>C (p.Ser1021=)
 gnomAD v4
2g.166233457A>TCA429900542SCN1A-AS1,SCN9Ac.3807T>A (p.Ser1269=)
c.3769-4485T>A (n.3769-4485T>A)
c.3774T>A (p.Ser1258=)
n.612-14738A>T
c.3420T>A (p.Ser1140=)
c.3063T>A (p.Ser1021=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166233458G>ACA349066743SCN1A-AS1,SCN9Ac.3806C>T (p.Ser1269Phe)
c.3769-4486C>T (n.3769-4486C>T)
c.3773C>T (p.Ser1258Phe)
n.612-14737G>A
c.3419C>T (p.Ser1140Phe)
c.3062C>T (p.Ser1021Phe)
 gnomAD v4 COSMIC COSMIC
2g.166233458G>CCA349066747SCN1A-AS1,SCN9Ac.3806C>G (p.Ser1269Cys)
c.3769-4486C>G (n.3769-4486C>G)
c.3773C>G (p.Ser1258Cys)
n.612-14737G>C
c.3419C>G (p.Ser1140Cys)
c.3062C>G (p.Ser1021Cys)
 gnomAD v4
2g.166233458G>TCA349066745SCN1A-AS1,SCN9Ac.3806C>A (p.Ser1269Tyr)
c.3769-4486C>A (n.3769-4486C>A)
c.3773C>A (p.Ser1258Tyr)
n.612-14737G>T
c.3419C>A (p.Ser1140Tyr)
c.3062C>A (p.Ser1021Tyr)
2g.166233459A>CCA349066750SCN1A-AS1,SCN9Ac.3805T>G (p.Ser1269Ala)
c.3769-4487T>G (n.3769-4487T>G)
c.3772T>G (p.Ser1258Ala)
n.612-14736A>C
c.3418T>G (p.Ser1140Ala)
c.3061T>G (p.Ser1021Ala)
2g.166233459A>GCA349066751SCN1A-AS1,SCN9Ac.3805T>C (p.Ser1269Pro)
c.3769-4487T>C (n.3769-4487T>C)
c.3772T>C (p.Ser1258Pro)
n.612-14736A>G
c.3418T>C (p.Ser1140Pro)
c.3061T>C (p.Ser1021Pro)
2g.166233459A>TCA349066753SCN1A-AS1,SCN9Ac.3805T>A (p.Ser1269Thr)
c.3769-4487T>A (n.3769-4487T>A)
c.3772T>A (p.Ser1258Thr)
n.612-14736A>T
c.3418T>A (p.Ser1140Thr)
c.3061T>A (p.Ser1021Thr)
2g.166233460A>CCA429900543SCN1A-AS1,SCN9Ac.3804T>G (p.Val1268=)
c.3769-4488T>G (n.3769-4488T>G)
c.3771T>G (p.Val1257=)
n.612-14735A>C
c.3417T>G (p.Val1139=)
c.3060T>G (p.Val1020=)
2g.166233460A>GCA429900544SCN1A-AS1,SCN9Ac.3804T>C (p.Val1268=)
c.3769-4488T>C (n.3769-4488T>C)
c.3771T>C (p.Val1257=)
n.612-14735A>G
c.3417T>C (p.Val1139=)
c.3060T>C (p.Val1020=)
 gnomAD v4
2g.166233460A>TCA429900545SCN1A-AS1,SCN9Ac.3804T>A (p.Val1268=)
c.3769-4488T>A (n.3769-4488T>A)
c.3771T>A (p.Val1257=)
n.612-14735A>T
c.3417T>A (p.Val1139=)
c.3060T>A (p.Val1020=)
 gnomAD v4
2g.166233461A>CCA349066755SCN1A-AS1,SCN9Ac.3803T>G (p.Val1268Gly)
c.3769-4489T>G (n.3769-4489T>G)
c.3770T>G (p.Val1257Gly)
n.612-14734A>C
c.3416T>G (p.Val1139Gly)
c.3059T>G (p.Val1020Gly)
2g.166233461A>GCA349066757SCN1A-AS1,SCN9Ac.3803T>C (p.Val1268Ala)
c.3769-4489T>C (n.3769-4489T>C)
c.3770T>C (p.Val1257Ala)
n.612-14734A>G
c.3416T>C (p.Val1139Ala)
c.3059T>C (p.Val1020Ala)
 gnomAD v4
2g.166233461A>TCA349066759SCN1A-AS1,SCN9Ac.3803T>A (p.Val1268Asp)
c.3769-4489T>A (n.3769-4489T>A)
c.3770T>A (p.Val1257Asp)
n.612-14734A>T
c.3416T>A (p.Val1139Asp)
c.3059T>A (p.Val1020Asp)
2g.166233462C>ACA349066762SCN1A-AS1,SCN9Ac.3802G>T (p.Val1268Phe)
c.3769-4490G>T (n.3769-4490G>T)
c.3769G>T (p.Val1257Phe)
n.612-14733C>A
c.3415G>T (p.Val1139Phe)
c.3058G>T (p.Val1020Phe)
 gnomAD v4
2g.166233462C>GCA349066764SCN1A-AS1,SCN9Ac.3802G>C (p.Val1268Leu)
c.3769-4490G>C (n.3769-4490G>C)
c.3769G>C (p.Val1257Leu)
n.612-14733C>G
c.3415G>C (p.Val1139Leu)
c.3058G>C (p.Val1020Leu)
2g.166233462C>TCA349066765SCN1A-AS1,SCN9Ac.3802G>A (p.Val1268Ile)
c.3769-4490G>A (n.3769-4490G>A)
c.3769G>A (p.Val1257Ile)
n.612-14733C>T
c.3415G>A (p.Val1139Ile)
c.3058G>A (p.Val1020Ile)
2g.166233463C>ACA349066773SCN1A-AS1,SCN9Ac.3802-1G>T (n.3802-1G>T)
c.3769-4491G>T (n.3769-4491G>T)
c.3769-1G>T (n.3769-1G>T)
n.612-14732C>A
c.3415-1G>T (n.3415-1G>T)
c.3058-1G>T (n.3058-1G>T)
 gnomAD v4
2g.166233463C>GCA349066770SCN1A-AS1,SCN9Ac.3802-1G>C (n.3802-1G>C)
c.3769-4491G>C (n.3769-4491G>C)
c.3769-1G>C (n.3769-1G>C)
n.612-14732C>G
c.3415-1G>C (n.3415-1G>C)
c.3058-1G>C (n.3058-1G>C)
2g.166233463C>TCA349066769SCN1A-AS1,SCN9Ac.3802-1G>A (n.3802-1G>A)
c.3769-4491G>A (n.3769-4491G>A)
c.3769-1G>A (n.3769-1G>A)
n.612-14732C>T
c.3415-1G>A (n.3415-1G>A)
c.3058-1G>A (n.3058-1G>A)
 gnomAD v4
2g.166233464T>ACA349066776SCN1A-AS1,SCN9Ac.3802-2A>T (n.3802-2A>T)
c.3769-4492A>T (n.3769-4492A>T)
c.3769-2A>T (n.3769-2A>T)
n.612-14731T>A
c.3415-2A>T (n.3415-2A>T)
c.3058-2A>T (n.3058-2A>T)
2g.166233464T>CCA349066778SCN1A-AS1,SCN9Ac.3802-2A>G (n.3802-2A>G)
c.3769-4492A>G (n.3769-4492A>G)
c.3769-2A>G (n.3769-2A>G)
n.612-14731T>C
c.3415-2A>G (n.3415-2A>G)
c.3058-2A>G (n.3058-2A>G)
 gnomAD v4
2g.166233464T>GCA349066780SCN1A-AS1,SCN9Ac.3802-2A>C (n.3802-2A>C)
c.3769-4492A>C (n.3769-4492A>C)
c.3769-2A>C (n.3769-2A>C)
n.612-14731T>G
c.3415-2A>C (n.3415-2A>C)
c.3058-2A>C (n.3058-2A>C)
2g.166233465A=CA1304946945SCN1A-AS1,SCN9Ac.3802-3T= (n.3802-3T=)
c.3769-4493T= (n.3769-4493T=)
c.3769-3T= (n.3769-3T=)
n.612-14730A=
c.3415-3T= (n.3415-3T=)
c.3058-3T= (n.3058-3T=)
2g.166233465A>GCA1943994SCN1A-AS1,SCN9Ac.3802-3T>C (n.3802-3T>C)
c.3769-4493T>C (n.3769-4493T>C)
c.3769-3T>C (n.3769-3T>C)
n.612-14730A>G
c.3415-3T>C (n.3415-3T>C)
c.3058-3T>C (n.3058-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166233466T>ACA2581842792SCN1A-AS1,SCN9Ac.3802-4A>T (n.3802-4A>T)
c.3769-4494A>T (n.3769-4494A>T)
c.3769-4A>T (n.3769-4A>T)
n.612-14729T>A
c.3415-4A>T (n.3415-4A>T)
c.3058-4A>T (n.3058-4A>T)
 gnomAD v4
2g.166233466T>CCA155131SCN1A-AS1,SCN9Ac.3802-4A>G (n.3802-4A>G)
c.3769-4494A>G (n.3769-4494A>G)
c.3769-4A>G (n.3769-4A>G)
n.612-14729T>C
c.3415-4A>G (n.3415-4A>G)
c.3058-4A>G (n.3058-4A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166233466T>GCA2581842791SCN1A-AS1,SCN9Ac.3802-4A>C (n.3802-4A>C)
c.3769-4494A>C (n.3769-4494A>C)
c.3769-4A>C (n.3769-4A>C)
n.612-14729T>G
c.3415-4A>C (n.3415-4A>C)
c.3058-4A>C (n.3058-4A>C)
2g.166233466T=CA1304946953SCN1A-AS1,SCN9Ac.3802-4A= (n.3802-4A=)
c.3769-4494A= (n.3769-4494A=)
c.3769-4A= (n.3769-4A=)
n.612-14729T=
c.3415-4A= (n.3415-4A=)
c.3058-4A= (n.3058-4A=)
2g.166233466_166233468delinsTAACA1304946955SCN1A-AS1,SCN9Ac.3802-6_3802-4delinsTTA (n.3802-6_3802-4delinsTTA)
c.3769-4496_3769-4494delinsTTA (n.3769-4496_3769-4494delinsTTA)
c.3769-6_3769-4delinsTTA (n.3769-6_3769-4delinsTTA)
n.612-14729_612-14727delinsTAA
c.3415-6_3415-4delinsTTA (n.3415-6_3415-4delinsTTA)
c.3058-6_3058-4delinsTTA (n.3058-6_3058-4delinsTTA)
2g.166233470_166233471delCA760187421SCN1A-AS1,SCN9Ac.3802-6_3802-5del (n.3802-6_3802-5del)
c.3769-4496_3769-4495del (n.3769-4496_3769-4495del)
c.3769-6_3769-5del (n.3769-6_3769-5del)
n.612-14725_612-14724del
c.3415-6_3415-5del (n.3415-6_3415-5del)
c.3058-6_3058-5del (n.3058-6_3058-5del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166233468A=CA1304946963SCN1A-AS1,SCN9Ac.3802-6T= (n.3802-6T=)
c.3769-4496T= (n.3769-4496T=)
c.3769-6T= (n.3769-6T=)
n.612-14727A=
c.3415-6T= (n.3415-6T=)
c.3058-6T= (n.3058-6T=)
2g.166233468A>CCA1038851406SCN1A-AS1,SCN9Ac.3802-6T>G (n.3802-6T>G)
c.3769-4496T>G (n.3769-4496T>G)
c.3769-6T>G (n.3769-6T>G)
n.612-14727A>C
c.3415-6T>G (n.3415-6T>G)
c.3058-6T>G (n.3058-6T>G)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched