Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280355A>CCA349079269SCN1A-AS1,SCN9Ac.2343+2T>G (n.2343+2T>G)
c.2310+2T>G (n.2310+2T>G)
c.1345+2T>G
n.1029+3108A>C
c.1956+2T>G (n.1956+2T>G)
c.1599+2T>G (n.1599+2T>G)
n.2657+2T>G
2g.166280355A>GCA349079271SCN1A-AS1,SCN9Ac.2343+2T>C (n.2343+2T>C)
c.2310+2T>C (n.2310+2T>C)
c.1345+2T>C
n.1029+3108A>G
c.1956+2T>C (n.1956+2T>C)
c.1599+2T>C (n.1599+2T>C)
n.2657+2T>C
 gnomAD v4
2g.166280355A>TCA349079273SCN1A-AS1,SCN9Ac.2343+2T>A (n.2343+2T>A)
c.2310+2T>A (n.2310+2T>A)
c.1345+2T>A
n.1029+3108A>T
c.1956+2T>A (n.1956+2T>A)
c.1599+2T>A (n.1599+2T>A)
n.2657+2T>A
2g.166280356_166280359delCA2661767705SCN1A-AS1,SCN9Ac.2342_2343+2del
c.2309_2310+2del
c.1344_1345+2del
n.1029+3109_1029+3112del
c.1955_1956+2del
c.1598_1599+2del
n.2656_2657+2del
 gnomAD v4
2g.166280356C>ACA349079276SCN1A-AS1,SCN9Ac.2343+1G>T (n.2343+1G>T)
c.2310+1G>T (n.2310+1G>T)
c.1345+1G>T
n.1029+3109C>A
c.1956+1G>T (n.1956+1G>T)
c.1599+1G>T (n.1599+1G>T)
n.2657+1G>T
2g.166280356C>GCA349079280SCN1A-AS1,SCN9Ac.2343+1G>C (n.2343+1G>C)
c.2310+1G>C (n.2310+1G>C)
c.1345+1G>C
n.1029+3109C>G
c.1956+1G>C (n.1956+1G>C)
c.1599+1G>C (n.1599+1G>C)
n.2657+1G>C
 gnomAD v4
2g.166280356C>TCA349079278SCN1A-AS1,SCN9Ac.2343+1G>A (n.2343+1G>A)
c.2310+1G>A (n.2310+1G>A)
c.1345+1G>A
n.1029+3109C>T
c.1956+1G>A (n.1956+1G>A)
c.1599+1G>A (n.1599+1G>A)
n.2657+1G>A
 gnomAD v4
2g.166280357C>ACA349079283SCN1A-AS1,SCN9Ac.2343G>T (p.Leu781Phe)
c.2310G>T (p.Leu770Phe)
c.1345G>T
n.1029+3110C>A
c.1956G>T (p.Leu652Phe)
c.1599G>T (p.Leu533Phe)
n.2657G>T
 gnomAD v4
2g.166280357C=CA1304965631SCN1A-AS1,SCN9Ac.2343G= (p.Leu781=)
c.2310G= (p.Leu770=)
c.1345G=
n.1029+3110C=
c.1956G= (p.Leu652=)
c.1599G= (p.Leu533=)
n.2657G=
2g.166280357C>GCA349079286SCN1A-AS1,SCN9Ac.2343G>C (p.Leu781Phe)
c.2310G>C (p.Leu770Phe)
c.1345G>C
n.1029+3110C>G
c.1956G>C (p.Leu652Phe)
c.1599G>C (p.Leu533Phe)
n.2657G>C
2g.166280357C>TCA429902010SCN1A-AS1,SCN9Ac.2343G>A (p.Leu781=)
c.2310G>A (p.Leu770=)
c.1345G>A
n.1029+3110C>T
c.1956G>A (p.Leu652=)
c.1599G>A (p.Leu533=)
n.2657G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280358A=CA1304965633SCN1A-AS1,SCN9Ac.2342T= (p.Leu781=)
c.2309T= (p.Leu770=)
c.1344T=
n.1029+3111A=
c.1955T= (p.Leu652=)
c.1598T= (p.Leu533=)
n.2656T=
2g.166280358A>CCA349079289SCN1A-AS1,SCN9Ac.2342T>G (p.Leu781Trp)
c.2309T>G (p.Leu770Trp)
c.1344T>G
n.1029+3111A>C
c.1955T>G (p.Leu652Trp)
c.1598T>G (p.Leu533Trp)
n.2656T>G
2g.166280358A>GCA349079293SCN1A-AS1,SCN9Ac.2342T>C (p.Leu781Ser)
c.2309T>C (p.Leu770Ser)
c.1344T>C
n.1029+3111A>G
c.1955T>C (p.Leu652Ser)
c.1598T>C (p.Leu533Ser)
n.2656T>C
 ClinVar dbSNP gnomAD v4
2g.166280358A>TCA349079291SCN1A-AS1,SCN9Ac.2342T>A (p.Leu781Ter)
c.2309T>A (p.Leu770Ter)
c.1344T>A
n.1029+3111A>T
c.1955T>A (p.Leu652Ter)
c.1598T>A (p.Leu533Ter)
n.2656T>A
 dbSNP
2g.166280359A=CA1304965635SCN1A-AS1,SCN9Ac.2341T= (p.Leu781=)
c.2308T= (p.Leu770=)
c.1343T=
n.1029+3112A=
c.1954T= (p.Leu652=)
c.1597T= (p.Leu533=)
n.2655T=
2g.166280359A>CCA1944295SCN1A-AS1,SCN9Ac.2341T>G (p.Leu781Val)
c.2308T>G (p.Leu770Val)
c.1343T>G
n.1029+3112A>C
c.1954T>G (p.Leu652Val)
c.1597T>G (p.Leu533Val)
n.2655T>G
 dbSNP ExAC gnomAD v2
2g.166280359A>GCA429902014SCN1A-AS1,SCN9Ac.2341T>C (p.Leu781=)
c.2308T>C (p.Leu770=)
c.1343T>C
n.1029+3112A>G
c.1954T>C (p.Leu652=)
c.1597T>C (p.Leu533=)
n.2655T>C
 ClinVar
2g.166280359A>TCA349079306SCN1A-AS1,SCN9Ac.2341T>A (p.Leu781Met)
c.2308T>A (p.Leu770Met)
c.1343T>A
n.1029+3112A>T
c.1954T>A (p.Leu652Met)
c.1597T>A (p.Leu533Met)
n.2655T>A
2g.166280360A>CCA349079309SCN1A-AS1,SCN9Ac.2340T>G (p.Asn780Lys)
c.2307T>G (p.Asn769Lys)
c.1342T>G
n.1029+3113A>C
c.1953T>G (p.Asn651Lys)
c.1596T>G (p.Asn532Lys)
n.2654T>G
2g.166280360A>GCA429902020SCN1A-AS1,SCN9Ac.2340T>C (p.Asn780=)
c.2307T>C (p.Asn769=)
c.1342T>C
n.1029+3113A>G
c.1953T>C (p.Asn651=)
c.1596T>C (p.Asn532=)
n.2654T>C
 gnomAD v4
2g.166280360A>TCA349079311SCN1A-AS1,SCN9Ac.2340T>A (p.Asn780Lys)
c.2307T>A (p.Asn769Lys)
c.1342T>A
n.1029+3113A>T
c.1953T>A (p.Asn651Lys)
c.1596T>A (p.Asn532Lys)
n.2654T>A
2g.166280361T>ACA349079313SCN1A-AS1,SCN9Ac.2339A>T (p.Asn780Ile)
c.2306A>T (p.Asn769Ile)
c.1341A>T
n.1029+3114T>A
c.1952A>T (p.Asn651Ile)
c.1595A>T (p.Asn532Ile)
n.2653A>T
2g.166280361T>CCA16610280SCN1A-AS1,SCN9Ac.2339A>G (p.Asn780Ser)
c.2306A>G (p.Asn769Ser)
c.1341A>G
n.1029+3114T>C
c.1952A>G (p.Asn651Ser)
c.1595A>G (p.Asn532Ser)
n.2653A>G
 ClinVar dbSNP
2g.166280361T>GCA349079316SCN1A-AS1,SCN9Ac.2339A>C (p.Asn780Thr)
c.2306A>C (p.Asn769Thr)
c.1341A>C
n.1029+3114T>G
c.1952A>C (p.Asn651Thr)
c.1595A>C (p.Asn532Thr)
n.2653A>C
2g.166280361T=CA1304965637SCN1A-AS1,SCN9Ac.2339A= (p.Asn780=)
c.2306A= (p.Asn769=)
c.1341A=
n.1029+3114T=
c.1952A= (p.Asn651=)
c.1595A= (p.Asn532=)
n.2653A=
2g.166280362T>ACA349079318SCN1A-AS1,SCN9Ac.2338A>T (p.Asn780Tyr)
c.2305A>T (p.Asn769Tyr)
c.1340A>T
n.1029+3115T>A
c.1951A>T (p.Asn651Tyr)
c.1594A>T (p.Asn532Tyr)
n.2652A>T
2g.166280362T>CCA349079320SCN1A-AS1,SCN9Ac.2338A>G (p.Asn780Asp)
c.2305A>G (p.Asn769Asp)
c.1340A>G
n.1029+3115T>C
c.1951A>G (p.Asn651Asp)
c.1594A>G (p.Asn532Asp)
n.2652A>G
 gnomAD v4
2g.166280362T>GCA349079322SCN1A-AS1,SCN9Ac.2338A>C (p.Asn780His)
c.2305A>C (p.Asn769His)
c.1340A>C
n.1029+3115T>G
c.1951A>C (p.Asn651His)
c.1594A>C (p.Asn532His)
n.2652A>C
2g.166280363T>ACA429902038SCN1A-AS1,SCN9Ac.2337A>T (p.Gly779=)
c.2304A>T (p.Gly768=)
c.1339A>T
n.1029+3116T>A
c.1950A>T (p.Gly650=)
c.1593A>T (p.Gly531=)
n.2651A>T
2g.166280363T>CCA429902040SCN1A-AS1,SCN9Ac.2337A>G (p.Gly779=)
c.2304A>G (p.Gly768=)
c.1339A>G
n.1029+3116T>C
c.1950A>G (p.Gly650=)
c.1593A>G (p.Gly531=)
n.2651A>G
 dbSNP
2g.166280363T>GCA429902042SCN1A-AS1,SCN9Ac.2337A>C (p.Gly779=)
c.2304A>C (p.Gly768=)
c.1339A>C
n.1029+3116T>G
c.1950A>C (p.Gly650=)
c.1593A>C (p.Gly531=)
n.2651A>C
2g.166280363T=CA1304965639SCN1A-AS1,SCN9Ac.2337A= (p.Gly779=)
c.2304A= (p.Gly768=)
c.1339A=
n.1029+3116T=
c.1950A= (p.Gly650=)
c.1593A= (p.Gly531=)
n.2651A=
2g.166280364C>ACA349079325SCN1A-AS1,SCN9Ac.2336G>T (p.Gly779Val)
c.2303G>T (p.Gly768Val)
c.1338G>T
n.1029+3117C>A
c.1949G>T (p.Gly650Val)
c.1592G>T (p.Gly531Val)
n.2650G>T
 gnomAD v4
2g.166280364C>GCA349079326SCN1A-AS1,SCN9Ac.2336G>C (p.Gly779Ala)
c.2303G>C (p.Gly768Ala)
c.1338G>C
n.1029+3117C>G
c.1949G>C (p.Gly650Ala)
c.1592G>C (p.Gly531Ala)
n.2650G>C
2g.166280364C>TCA349079329SCN1A-AS1,SCN9Ac.2336G>A (p.Gly779Glu)
c.2303G>A (p.Gly768Glu)
c.1338G>A
n.1029+3117C>T
c.1949G>A (p.Gly650Glu)
c.1592G>A (p.Gly531Glu)
n.2650G>A
 COSMIC COSMIC
2g.166280365C>ACA349079337SCN1A-AS1,SCN9Ac.2335G>T (p.Gly779Ter)
c.2302G>T (p.Gly768Ter)
c.1337G>T
n.1029+3118C>A
c.1948G>T (p.Gly650Ter)
c.1591G>T (p.Gly531Ter)
n.2649G>T
 dbSNP
2g.166280365C=CA1304965640SCN1A-AS1,SCN9Ac.2335G= (p.Gly779=)
c.2302G= (p.Gly768=)
c.1337G=
n.1029+3118C=
c.1948G= (p.Gly650=)
c.1591G= (p.Gly531=)
n.2649G=
2g.166280365C>GCA349079334SCN1A-AS1,SCN9Ac.2335G>C (p.Gly779Arg)
c.2302G>C (p.Gly768Arg)
c.1337G>C
n.1029+3118C>G
c.1948G>C (p.Gly650Arg)
c.1591G>C (p.Gly531Arg)
n.2649G>C
2g.166280365C>TCA349079332SCN1A-AS1,SCN9Ac.2335G>A (p.Gly779Arg)
c.2302G>A (p.Gly768Arg)
c.1337G>A
n.1029+3118C>T
c.1948G>A (p.Gly650Arg)
c.1591G>A (p.Gly531Arg)
n.2649G>A
2g.166280366T>ACA429902057SCN1A-AS1,SCN9Ac.2334A>T (p.Ile778=)
c.2301A>T (p.Ile767=)
c.1336A>T
n.1029+3119T>A
c.1947A>T (p.Ile649=)
c.1590A>T (p.Ile530=)
n.2648A>T
 gnomAD v4
2g.166280366T>CCA59796515SCN1A-AS1,SCN9Ac.2334A>G (p.Ile778Met)
c.2301A>G (p.Ile767Met)
c.1336A>G
n.1029+3119T>C
c.1947A>G (p.Ile649Met)
c.1590A>G (p.Ile530Met)
n.2648A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280366T>GCA429902062SCN1A-AS1,SCN9Ac.2334A>C (p.Ile778=)
c.2301A>C (p.Ile767=)
c.1336A>C
n.1029+3119T>G
c.1947A>C (p.Ile649=)
c.1590A>C (p.Ile530=)
n.2648A>C
2g.166280366T=CA1304965642SCN1A-AS1,SCN9Ac.2334A= (p.Ile778=)
c.2301A= (p.Ile767=)
c.1336A=
n.1029+3119T=
c.1947A= (p.Ile649=)
c.1590A= (p.Ile530=)
n.2648A=
2g.166280368_166280369delCA2661767706SCN1A-AS1,SCN9Ac.2333_2334del (p.Ile778ArgfsTer12)
c.2300_2301del (p.Ile767ArgfsTer12)
c.1335_1336del
n.1029+3121_1029+3122del
c.1946_1947del (p.Ile649ArgfsTer12)
c.1589_1590del (p.Ile530ArgfsTer12)
n.2647_2648del
 gnomAD v4
2g.166280367A>CCA349079342SCN1A-AS1,SCN9Ac.2333T>G (p.Ile778Arg)
c.2300T>G (p.Ile767Arg)
c.1335T>G
n.1029+3120A>C
c.1946T>G (p.Ile649Arg)
c.1589T>G (p.Ile530Arg)
n.2647T>G
2g.166280367A>GCA349079344SCN1A-AS1,SCN9Ac.2333T>C (p.Ile778Thr)
c.2300T>C (p.Ile767Thr)
c.1335T>C
n.1029+3120A>G
c.1946T>C (p.Ile649Thr)
c.1589T>C (p.Ile530Thr)
n.2647T>C
 gnomAD v4
2g.166280367A>TCA349079346SCN1A-AS1,SCN9Ac.2333T>A (p.Ile778Lys)
c.2300T>A (p.Ile767Lys)
c.1335T>A
n.1029+3120A>T
c.1946T>A (p.Ile649Lys)
c.1589T>A (p.Ile530Lys)
n.2647T>A
 gnomAD v4
2g.166280368T>ACA349079349SCN1A-AS1,SCN9Ac.2332A>T (p.Ile778Leu)
c.2299A>T (p.Ile767Leu)
c.1334A>T
n.1029+3121T>A
c.1945A>T (p.Ile649Leu)
c.1588A>T (p.Ile530Leu)
n.2646A>T
 ClinVar gnomAD v4
2g.166280368T>CCA1944296SCN1A-AS1,SCN9Ac.2332A>G (p.Ile778Val)
c.2299A>G (p.Ile767Val)
c.1334A>G
n.1029+3121T>C
c.1945A>G (p.Ile649Val)
c.1588A>G (p.Ile530Val)
n.2646A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280368T>GCA349079352SCN1A-AS1,SCN9Ac.2332A>C (p.Ile778Leu)
c.2299A>C (p.Ile767Leu)
c.1334A>C
n.1029+3121T>G
c.1945A>C (p.Ile649Leu)
c.1588A>C (p.Ile530Leu)
n.2646A>C
2g.166280368T=CA1304965643SCN1A-AS1,SCN9Ac.2332A= (p.Ile778=)
c.2299A= (p.Ile767=)
c.1334A=
n.1029+3121T=
c.1945A= (p.Ile649=)
c.1588A= (p.Ile530=)
n.2646A=
2g.166280368_166280369delinsTACA1304965644SCN1A-AS1,SCN9Ac.2331_2332delinsTA (p.Ala777=)
c.2298_2299delinsTA (p.Ala766=)
c.1333_1334delinsTA
n.1029+3121_1029+3122delinsTA
c.1944_1945delinsTA (p.Ala648=)
c.1587_1588delinsTA (p.Ala529=)
n.2645_2646delinsTA
2g.166280369delCA913185013SCN1A-AS1,SCN9Ac.2331del (p.Ile778Ter)
c.2298del (p.Ile767Ter)
c.1333del
n.1029+3122del
c.1944del (p.Ile649Ter)
c.1587del (p.Ile530Ter)
n.2645del
 ClinVar dbSNP
2g.166280369A>CCA429902077SCN1A-AS1,SCN9Ac.2331T>G (p.Ala777=)
c.2298T>G (p.Ala766=)
c.1333T>G
n.1029+3122A>C
c.1944T>G (p.Ala648=)
c.1587T>G (p.Ala529=)
n.2645T>G
2g.166280369A>GCA429902078SCN1A-AS1,SCN9Ac.2331T>C (p.Ala777=)
c.2298T>C (p.Ala766=)
c.1333T>C
n.1029+3122A>G
c.1944T>C (p.Ala648=)
c.1587T>C (p.Ala529=)
n.2645T>C
 ClinVar
2g.166280369A>TCA429902080SCN1A-AS1,SCN9Ac.2331T>A (p.Ala777=)
c.2298T>A (p.Ala766=)
c.1333T>A
n.1029+3122A>T
c.1944T>A (p.Ala648=)
c.1587T>A (p.Ala529=)
n.2645T>A
2g.166280370G>ACA1944297SCN1A-AS1,SCN9Ac.2330C>T (p.Ala777Val)
c.2297C>T (p.Ala766Val)
c.1332C>T
n.1029+3123G>A
c.1943C>T (p.Ala648Val)
c.1586C>T (p.Ala529Val)
n.2644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280370G>CCA349079357SCN1A-AS1,SCN9Ac.2330C>G (p.Ala777Gly)
c.2297C>G (p.Ala766Gly)
c.1332C>G
n.1029+3123G>C
c.1943C>G (p.Ala648Gly)
c.1586C>G (p.Ala529Gly)
n.2644C>G
2g.166280370G=CA1304965646SCN1A-AS1,SCN9Ac.2330C= (p.Ala777=)
c.2297C= (p.Ala766=)
c.1332C=
n.1029+3123G=
c.1943C= (p.Ala648=)
c.1586C= (p.Ala529=)
n.2644C=
2g.166280370G>TCA349079359SCN1A-AS1,SCN9Ac.2330C>A (p.Ala777Asp)
c.2297C>A (p.Ala766Asp)
c.1332C>A
n.1029+3123G>T
c.1943C>A (p.Ala648Asp)
c.1586C>A (p.Ala529Asp)
n.2644C>A
 gnomAD v4
2g.166280371C>ACA349079362SCN1A-AS1,SCN9Ac.2329G>T (p.Ala777Ser)
c.2296G>T (p.Ala766Ser)
c.1331G>T
n.1029+3124C>A
c.1942G>T (p.Ala648Ser)
c.1585G>T (p.Ala529Ser)
n.2643G>T
 gnomAD v4
2g.166280371C=CA1304965647SCN1A-AS1,SCN9Ac.2329G= (p.Ala777=)
c.2296G= (p.Ala766=)
c.1331G=
n.1029+3124C=
c.1942G= (p.Ala648=)
c.1585G= (p.Ala529=)
n.2643G=
2g.166280371C>GCA349079364SCN1A-AS1,SCN9Ac.2329G>C (p.Ala777Pro)
c.2296G>C (p.Ala766Pro)
c.1331G>C
n.1029+3124C>G
c.1942G>C (p.Ala648Pro)
c.1585G>C (p.Ala529Pro)
n.2643G>C
2g.166280371C>TCA349079366SCN1A-AS1,SCN9Ac.2329G>A (p.Ala777Thr)
c.2296G>A (p.Ala766Thr)
c.1331G>A
n.1029+3124C>T
c.1942G>A (p.Ala648Thr)
c.1585G>A (p.Ala529Thr)
n.2643G>A
 dbSNP gnomAD v4
2g.166280372A>CCA429902096SCN1A-AS1,SCN9Ac.2328T>G (p.Leu776=)
c.2295T>G (p.Leu765=)
c.1330T>G
n.1029+3125A>C
c.1941T>G (p.Leu647=)
c.1584T>G (p.Leu528=)
n.2642T>G
2g.166280372A>GCA429902098SCN1A-AS1,SCN9Ac.2328T>C (p.Leu776=)
c.2295T>C (p.Leu765=)
c.1330T>C
n.1029+3125A>G
c.1941T>C (p.Leu647=)
c.1584T>C (p.Leu528=)
n.2642T>C
2g.166280372A>TCA429902100SCN1A-AS1,SCN9Ac.2328T>A (p.Leu776=)
c.2295T>A (p.Leu765=)
c.1330T>A
n.1029+3125A>T
c.1941T>A (p.Leu647=)
c.1584T>A (p.Leu528=)
n.2642T>A
2g.166280373A>CCA349079371SCN1A-AS1,SCN9Ac.2327T>G (p.Leu776Arg)
c.2294T>G (p.Leu765Arg)
c.1329T>G
n.1029+3126A>C
c.1940T>G (p.Leu647Arg)
c.1583T>G (p.Leu528Arg)
n.2641T>G
2g.166280373A>GCA349079373SCN1A-AS1,SCN9Ac.2327T>C (p.Leu776Pro)
c.2294T>C (p.Leu765Pro)
c.1329T>C
n.1029+3126A>G
c.1940T>C (p.Leu647Pro)
c.1583T>C (p.Leu528Pro)
n.2641T>C
2g.166280373A>TCA349079369SCN1A-AS1,SCN9Ac.2327T>A (p.Leu776His)
c.2294T>A (p.Leu765His)
c.1329T>A
n.1029+3126A>T
c.1940T>A (p.Leu647His)
c.1583T>A (p.Leu528His)
n.2641T>A
 gnomAD v4
2g.166280374G>ACA1944298SCN1A-AS1,SCN9Ac.2326C>T (p.Leu776Phe)
c.2293C>T (p.Leu765Phe)
c.1328C>T
n.1029+3127G>A
c.1939C>T (p.Leu647Phe)
c.1582C>T (p.Leu528Phe)
n.2640C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280374G>CCA349079377SCN1A-AS1,SCN9Ac.2326C>G (p.Leu776Val)
c.2293C>G (p.Leu765Val)
c.1328C>G
n.1029+3127G>C
c.1939C>G (p.Leu647Val)
c.1582C>G (p.Leu528Val)
n.2640C>G
2g.166280374G=CA1304965649SCN1A-AS1,SCN9Ac.2326C= (p.Leu776=)
c.2293C= (p.Leu765=)
c.1328C=
n.1029+3127G=
c.1939C= (p.Leu647=)
c.1582C= (p.Leu528=)
n.2640C=
2g.166280374G>TCA349079379SCN1A-AS1,SCN9Ac.2326C>A (p.Leu776Ile)
c.2293C>A (p.Leu765Ile)
c.1328C>A
n.1029+3127G>T
c.1939C>A (p.Leu647Ile)
c.1582C>A (p.Leu528Ile)
n.2640C>A
 gnomAD v4
2g.166280375T>ACA429902124SCN1A-AS1,SCN9Ac.2325A>T (p.Val775=)
c.2292A>T (p.Val764=)
c.1327A>T
n.1029+3128T>A
c.1938A>T (p.Val646=)
c.1581A>T (p.Val527=)
n.2639A>T
2g.166280375T>CCA429902126SCN1A-AS1,SCN9Ac.2325A>G (p.Val775=)
c.2292A>G (p.Val764=)
c.1327A>G
n.1029+3128T>C
c.1938A>G (p.Val646=)
c.1581A>G (p.Val527=)
n.2639A>G
 ClinVar dbSNP gnomAD v4
2g.166280375T>GCA429902123SCN1A-AS1,SCN9Ac.2325A>C (p.Val775=)
c.2292A>C (p.Val764=)
c.1327A>C
n.1029+3128T>G
c.1938A>C (p.Val646=)
c.1581A>C (p.Val527=)
n.2639A>C
2g.166280376A=CA1304965650SCN1A-AS1,SCN9Ac.2324T= (p.Val775=)
c.2291T= (p.Val764=)
c.1326T=
n.1029+3129A=
c.1937T= (p.Val646=)
c.1580T= (p.Val527=)
n.2638T=
2g.166280376A>CCA349079382SCN1A-AS1,SCN9Ac.2324T>G (p.Val775Gly)
c.2291T>G (p.Val764Gly)
c.1326T>G
n.1029+3129A>C
c.1937T>G (p.Val646Gly)
c.1580T>G (p.Val527Gly)
n.2638T>G
2g.166280376A>GCA349079384SCN1A-AS1,SCN9Ac.2324T>C (p.Val775Ala)
c.2291T>C (p.Val764Ala)
c.1326T>C
n.1029+3129A>G
c.1937T>C (p.Val646Ala)
c.1580T>C (p.Val527Ala)
n.2638T>C
 dbSNP gnomAD v3 gnomAD v4
2g.166280376A>TCA349079386SCN1A-AS1,SCN9Ac.2324T>A (p.Val775Glu)
c.2291T>A (p.Val764Glu)
c.1326T>A
n.1029+3129A>T
c.1937T>A (p.Val646Glu)
c.1580T>A (p.Val527Glu)
n.2638T>A
2g.166280377C>ACA349079389SCN1A-AS1,SCN9Ac.2323G>T (p.Val775Leu)
c.2290G>T (p.Val764Leu)
c.1325G>T
n.1029+3130C>A
c.1936G>T (p.Val646Leu)
c.1579G>T (p.Val527Leu)
n.2637G>T
 gnomAD v4
2g.166280377C>GCA349079391SCN1A-AS1,SCN9Ac.2323G>C (p.Val775Leu)
c.2290G>C (p.Val764Leu)
c.1325G>C
n.1029+3130C>G
c.1936G>C (p.Val646Leu)
c.1579G>C (p.Val527Leu)
n.2637G>C
2g.166280377C>TCA349079393SCN1A-AS1,SCN9Ac.2323G>A (p.Val775Ile)
c.2290G>A (p.Val764Ile)
c.1325G>A
n.1029+3130C>T
c.1936G>A (p.Val646Ile)
c.1579G>A (p.Val527Ile)
n.2637G>A
 gnomAD v4
2g.166280381_166280399dupCA658657114SCN1A-AS1,SCN9Ac.2305_2323dup (p.Val775AspfsTer2)
c.2272_2290dup (p.Val764AspfsTer2)
c.1307_1325dup
n.1029+3134_1029+3152dup
c.1918_1936dup (p.Val646AspfsTer2)
c.1561_1579dup (p.Val527AspfsTer2)
n.2619_2637dup
 ClinVar dbSNP
2g.166280378A=CA1304965656SCN1A-AS1,SCN9Ac.2322T= (p.Asn774=)
c.2289T= (p.Asn763=)
c.1324T=
n.1029+3131A=
c.1935T= (p.Asn645=)
c.1578T= (p.Asn526=)
n.2636T=
2g.166280378A>CCA349079396SCN1A-AS1,SCN9Ac.2322T>G (p.Asn774Lys)
c.2289T>G (p.Asn763Lys)
c.1324T>G
n.1029+3131A>C
c.1935T>G (p.Asn645Lys)
c.1578T>G (p.Asn526Lys)
n.2636T>G
2g.166280378A>GCA429902132SCN1A-AS1,SCN9Ac.2322T>C (p.Asn774=)
c.2289T>C (p.Asn763=)
c.1324T>C
n.1029+3131A>G
c.1935T>C (p.Asn645=)
c.1578T>C (p.Asn526=)
n.2636T>C
 gnomAD v4
2g.166280378A>TCA349079398SCN1A-AS1,SCN9Ac.2322T>A (p.Asn774Lys)
c.2289T>A (p.Asn763Lys)
c.1324T>A
n.1029+3131A>T
c.1935T>A (p.Asn645Lys)
c.1578T>A (p.Asn526Lys)
n.2636T>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280379T>ACA349079402SCN1A-AS1,SCN9Ac.2321A>T (p.Asn774Ile)
c.2288A>T (p.Asn763Ile)
c.1323A>T
n.1029+3132T>A
c.1934A>T (p.Asn645Ile)
c.1577A>T (p.Asn526Ile)
n.2635A>T
 gnomAD v4
2g.166280379T>CCA349079401SCN1A-AS1,SCN9Ac.2321A>G (p.Asn774Ser)
c.2288A>G (p.Asn763Ser)
c.1323A>G
n.1029+3132T>C
c.1934A>G (p.Asn645Ser)
c.1577A>G (p.Asn526Ser)
n.2635A>G
2g.166280379T>GCA349079400SCN1A-AS1,SCN9Ac.2321A>C (p.Asn774Thr)
c.2288A>C (p.Asn763Thr)
c.1323A>C
n.1029+3132T>G
c.1934A>C (p.Asn645Thr)
c.1577A>C (p.Asn526Thr)
n.2635A>C
 dbSNP gnomAD v3 gnomAD v4
2g.166280379T=CA1304965657SCN1A-AS1,SCN9Ac.2321A= (p.Asn774=)
c.2288A= (p.Asn763=)
c.1323A=
n.1029+3132T=
c.1934A= (p.Asn645=)
c.1577A= (p.Asn526=)
n.2635A=
2g.166280383delCA2661767707SCN1A-AS1,SCN9Ac.2321del (p.Asn774MetfsTer5)
c.2288del (p.Asn763MetfsTer5)
c.1323del
n.1029+3136del
c.1934del (p.Asn645MetfsTer5)
c.1577del (p.Asn526MetfsTer5)
n.2635del
 gnomAD v4
2g.166280380T>ACA349079405SCN1A-AS1,SCN9Ac.2320A>T (p.Asn774Tyr)
c.2287A>T (p.Asn763Tyr)
c.1322A>T
n.1029+3133T>A
c.1933A>T (p.Asn645Tyr)
c.1576A>T (p.Asn526Tyr)
n.2634A>T
2g.166280380T>CCA349079407SCN1A-AS1,SCN9Ac.2320A>G (p.Asn774Asp)
c.2287A>G (p.Asn763Asp)
c.1322A>G
n.1029+3133T>C
c.1933A>G (p.Asn645Asp)
c.1576A>G (p.Asn526Asp)
n.2634A>G
2g.166280380T>GCA349079410SCN1A-AS1,SCN9Ac.2320A>C (p.Asn774His)
c.2287A>C (p.Asn763His)
c.1322A>C
n.1029+3133T>G
c.1933A>C (p.Asn645His)
c.1576A>C (p.Asn526His)
n.2634A>C
2g.166280381T>ACA349079411SCN1A-AS1,SCN9Ac.2319A>T (p.Lys773Asn)
c.2286A>T (p.Lys762Asn)
c.1321A>T
n.1029+3134T>A
c.1932A>T (p.Lys644Asn)
c.1575A>T (p.Lys525Asn)
n.2633A>T
2g.166280381T>CCA429902142SCN1A-AS1,SCN9Ac.2319A>G (p.Lys773=)
c.2286A>G (p.Lys762=)
c.1321A>G
n.1029+3134T>C
c.1932A>G (p.Lys644=)
c.1575A>G (p.Lys525=)
n.2633A>G
2g.166280381T>GCA349079413SCN1A-AS1,SCN9Ac.2319A>C (p.Lys773Asn)
c.2286A>C (p.Lys762Asn)
c.1321A>C
n.1029+3134T>G
c.1932A>C (p.Lys644Asn)
c.1575A>C (p.Lys525Asn)
n.2633A>C
2g.166280382T>ACA349079416SCN1A-AS1,SCN9Ac.2318A>T (p.Lys773Ile)
c.2285A>T (p.Lys762Ile)
c.1320A>T
n.1029+3135T>A
c.1931A>T (p.Lys644Ile)
c.1574A>T (p.Lys525Ile)
n.2632A>T
2g.166280382T>CCA349079419SCN1A-AS1,SCN9Ac.2318A>G (p.Lys773Arg)
c.2285A>G (p.Lys762Arg)
c.1320A>G
n.1029+3135T>C
c.1931A>G (p.Lys644Arg)
c.1574A>G (p.Lys525Arg)
n.2632A>G
2g.166280382T>GCA349079421SCN1A-AS1,SCN9Ac.2318A>C (p.Lys773Thr)
c.2285A>C (p.Lys762Thr)
c.1320A>C
n.1029+3135T>G
c.1931A>C (p.Lys644Thr)
c.1574A>C (p.Lys525Thr)
n.2632A>C
2g.166280383T>ACA349079424SCN1A-AS1,SCN9Ac.2317A>T (p.Lys773Ter)
c.2284A>T (p.Lys762Ter)
c.1319A>T
n.1029+3136T>A
c.1930A>T (p.Lys644Ter)
c.1573A>T (p.Lys525Ter)
n.2631A>T
 dbSNP
2g.166280383T>CCA349079425SCN1A-AS1,SCN9Ac.2317A>G (p.Lys773Glu)
c.2284A>G (p.Lys762Glu)
c.1319A>G
n.1029+3136T>C
c.1930A>G (p.Lys644Glu)
c.1573A>G (p.Lys525Glu)
n.2631A>G
 dbSNP gnomAD v4
2g.166280383T>GCA349079428SCN1A-AS1,SCN9Ac.2317A>C (p.Lys773Gln)
c.2284A>C (p.Lys762Gln)
c.1319A>C
n.1029+3136T>G
c.1930A>C (p.Lys644Gln)
c.1573A>C (p.Lys525Gln)
n.2631A>C
2g.166280383T=CA1304965658SCN1A-AS1,SCN9Ac.2317A= (p.Lys773=)
c.2284A= (p.Lys762=)
c.1319A=
n.1029+3136T=
c.1930A= (p.Lys644=)
c.1573A= (p.Lys525=)
n.2631A=
2g.166280384G>ACA1944299SCN1A-AS1,SCN9Ac.2316C>T (p.Phe772=)
c.2283C>T (p.Phe761=)
c.1318C>T
n.1029+3137G>A
c.1929C>T (p.Phe643=)
c.1572C>T (p.Phe524=)
n.2630C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280384G>CCA349079432SCN1A-AS1,SCN9Ac.2316C>G (p.Phe772Leu)
c.2283C>G (p.Phe761Leu)
c.1318C>G
n.1029+3137G>C
c.1929C>G (p.Phe643Leu)
c.1572C>G (p.Phe524Leu)
n.2630C>G
 gnomAD v4
2g.166280384G=CA1304965660SCN1A-AS1,SCN9Ac.2316C= (p.Phe772=)
c.2283C= (p.Phe761=)
c.1318C=
n.1029+3137G=
c.1929C= (p.Phe643=)
c.1572C= (p.Phe524=)
n.2630C=
2g.166280384G>TCA59796551SCN1A-AS1,SCN9Ac.2316C>A (p.Phe772Leu)
c.2283C>A (p.Phe761Leu)
c.1318C>A
n.1029+3137G>T
c.1929C>A (p.Phe643Leu)
c.1572C>A (p.Phe524Leu)
n.2630C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280385A>CCA349079437SCN1A-AS1,SCN9Ac.2315T>G (p.Phe772Cys)
c.2282T>G (p.Phe761Cys)
c.1317T>G
n.1029+3138A>C
c.1928T>G (p.Phe643Cys)
c.1571T>G (p.Phe524Cys)
n.2629T>G
2g.166280385A>GCA349079441SCN1A-AS1,SCN9Ac.2315T>C (p.Phe772Ser)
c.2282T>C (p.Phe761Ser)
c.1317T>C
n.1029+3138A>G
c.1928T>C (p.Phe643Ser)
c.1571T>C (p.Phe524Ser)
n.2629T>C
2g.166280385A>TCA349079439SCN1A-AS1,SCN9Ac.2315T>A (p.Phe772Tyr)
c.2282T>A (p.Phe761Tyr)
c.1317T>A
n.1029+3138A>T
c.1928T>A (p.Phe643Tyr)
c.1571T>A (p.Phe524Tyr)
n.2629T>A
2g.166280386A>CCA349079444SCN1A-AS1,SCN9Ac.2314T>G (p.Phe772Val)
c.2281T>G (p.Phe761Val)
c.1316T>G
n.1029+3139A>C
c.1927T>G (p.Phe643Val)
c.1570T>G (p.Phe524Val)
n.2628T>G
2g.166280386A>GCA349079447SCN1A-AS1,SCN9Ac.2314T>C (p.Phe772Leu)
c.2281T>C (p.Phe761Leu)
c.1316T>C
n.1029+3139A>G
c.1927T>C (p.Phe643Leu)
c.1570T>C (p.Phe524Leu)
n.2628T>C
 gnomAD v4
2g.166280386A>TCA349079449SCN1A-AS1,SCN9Ac.2314T>A (p.Phe772Ile)
c.2281T>A (p.Phe761Ile)
c.1316T>A
n.1029+3139A>T
c.1927T>A (p.Phe643Ile)
c.1570T>A (p.Phe524Ile)
n.2628T>A
2g.166280387T>ACA349079452SCN1A-AS1,SCN9Ac.2313A>T (p.Glu771Asp)
c.2280A>T (p.Glu760Asp)
c.1315A>T
n.1029+3140T>A
c.1926A>T (p.Glu642Asp)
c.1569A>T (p.Glu523Asp)
n.2627A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280387T>CCA429902153SCN1A-AS1,SCN9Ac.2313A>G (p.Glu771=)
c.2280A>G (p.Glu760=)
c.1315A>G
n.1029+3140T>C
c.1926A>G (p.Glu642=)
c.1569A>G (p.Glu523=)
n.2627A>G
2g.166280387T>GCA349079453SCN1A-AS1,SCN9Ac.2313A>C (p.Glu771Asp)
c.2280A>C (p.Glu760Asp)
c.1315A>C
n.1029+3140T>G
c.1926A>C (p.Glu642Asp)
c.1569A>C (p.Glu523Asp)
n.2627A>C
 gnomAD v4
2g.166280387T=CA1304965663SCN1A-AS1,SCN9Ac.2313A= (p.Glu771=)
c.2280A= (p.Glu760=)
c.1315A=
n.1029+3140T=
c.1926A= (p.Glu642=)
c.1569A= (p.Glu523=)
n.2627A=
2g.166280388T>ACA349079457SCN1A-AS1,SCN9Ac.2312A>T (p.Glu771Val)
c.2279A>T (p.Glu760Val)
c.1314A>T
n.1029+3141T>A
c.1925A>T (p.Glu642Val)
c.1568A>T (p.Glu523Val)
n.2626A>T
 gnomAD v4
2g.166280388T>CCA349079458SCN1A-AS1,SCN9Ac.2312A>G (p.Glu771Gly)
c.2279A>G (p.Glu760Gly)
c.1314A>G
n.1029+3141T>C
c.1925A>G (p.Glu642Gly)
c.1568A>G (p.Glu523Gly)
n.2626A>G
 gnomAD v4
2g.166280388T>GCA349079461SCN1A-AS1,SCN9Ac.2312A>C (p.Glu771Ala)
c.2279A>C (p.Glu760Ala)
c.1314A>C
n.1029+3141T>G
c.1925A>C (p.Glu642Ala)
c.1568A>C (p.Glu523Ala)
n.2626A>C
2g.166280389C>ACA349079463SCN1A-AS1,SCN9Ac.2311G>T (p.Glu771Ter)
c.2278G>T (p.Glu760Ter)
c.1313G>T
n.1029+3142C>A
c.1924G>T (p.Glu642Ter)
c.1567G>T (p.Glu523Ter)
n.2625G>T
 dbSNP gnomAD v4
2g.166280389C=CA1304965665SCN1A-AS1,SCN9Ac.2311G= (p.Glu771=)
c.2278G= (p.Glu760=)
c.1313G=
n.1029+3142C=
c.1924G= (p.Glu642=)
c.1567G= (p.Glu523=)
n.2625G=
2g.166280389C>GCA349079466SCN1A-AS1,SCN9Ac.2311G>C (p.Glu771Gln)
c.2278G>C (p.Glu760Gln)
c.1313G>C
n.1029+3142C>G
c.1924G>C (p.Glu642Gln)
c.1567G>C (p.Glu523Gln)
n.2625G>C
2g.166280389C>TCA59796554SCN1A-AS1,SCN9Ac.2311G>A (p.Glu771Lys)
c.2278G>A (p.Glu760Lys)
c.1313G>A
n.1029+3142C>T
c.1924G>A (p.Glu642Lys)
c.1567G>A (p.Glu523Lys)
n.2625G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280390C>ACA349079470SCN1A-AS1,SCN9Ac.2310G>T (p.Glu770Asp)
c.2277G>T (p.Glu759Asp)
c.1312G>T
n.1029+3143C>A
c.1923G>T (p.Glu641Asp)
c.1566G>T (p.Glu522Asp)
n.2624G>T
 gnomAD v4
2g.166280390C>GCA349079468SCN1A-AS1,SCN9Ac.2310G>C (p.Glu770Asp)
c.2277G>C (p.Glu759Asp)
c.1312G>C
n.1029+3143C>G
c.1923G>C (p.Glu641Asp)
c.1566G>C (p.Glu522Asp)
n.2624G>C
2g.166280390C>TCA429902161SCN1A-AS1,SCN9Ac.2310G>A (p.Glu770=)
c.2277G>A (p.Glu759=)
c.1312G>A
n.1029+3143C>T
c.1923G>A (p.Glu641=)
c.1566G>A (p.Glu522=)
n.2624G>A
2g.166280391T>ACA349079473SCN1A-AS1,SCN9Ac.2309A>T (p.Glu770Val)
c.2276A>T (p.Glu759Val)
c.1311A>T
n.1029+3144T>A
c.1922A>T (p.Glu641Val)
c.1565A>T (p.Glu522Val)
n.2623A>T
2g.166280391T>CCA349079475SCN1A-AS1,SCN9Ac.2309A>G (p.Glu770Gly)
c.2276A>G (p.Glu759Gly)
c.1311A>G
n.1029+3144T>C
c.1922A>G (p.Glu641Gly)
c.1565A>G (p.Glu522Gly)
n.2623A>G
 gnomAD v4
2g.166280391T>GCA349079478SCN1A-AS1,SCN9Ac.2309A>C (p.Glu770Ala)
c.2276A>C (p.Glu759Ala)
c.1311A>C
n.1029+3144T>G
c.1922A>C (p.Glu641Ala)
c.1565A>C (p.Glu522Ala)
n.2623A>C
2g.166280392delCA2661767708SCN1A-AS1,SCN9Ac.2308del (p.Glu770ArgfsTer9)
c.2275del (p.Glu759ArgfsTer9)
c.1310del
n.1029+3145del
c.1921del (p.Glu641ArgfsTer9)
c.1564del (p.Glu522ArgfsTer9)
n.2622del
 gnomAD v4
2g.166280392C>ACA349079479SCN1A-AS1,SCN9Ac.2308G>T (p.Glu770Ter)
c.2275G>T (p.Glu759Ter)
c.1310G>T
n.1029+3145C>A
c.1921G>T (p.Glu641Ter)
c.1564G>T (p.Glu522Ter)
n.2622G>T
 dbSNP gnomAD v4
2g.166280392C=CA1304965667SCN1A-AS1,SCN9Ac.2308G= (p.Glu770=)
c.2275G= (p.Glu759=)
c.1310G=
n.1029+3145C=
c.1921G= (p.Glu641=)
c.1564G= (p.Glu522=)
n.2622G=
2g.166280392C>GCA349079482SCN1A-AS1,SCN9Ac.2308G>C (p.Glu770Gln)
c.2275G>C (p.Glu759Gln)
c.1310G>C
n.1029+3145C>G
c.1921G>C (p.Glu641Gln)
c.1564G>C (p.Glu522Gln)
n.2622G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166280392C>TCA1944300SCN1A-AS1,SCN9Ac.2308G>A (p.Glu770Lys)
c.2275G>A (p.Glu759Lys)
c.1310G>A
n.1029+3145C>T
c.1921G>A (p.Glu641Lys)
c.1564G>A (p.Glu522Lys)
n.2622G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280393A=CA1304965671SCN1A-AS1,SCN9Ac.2307T= (p.Thr769=)
c.2274T= (p.Thr758=)
c.1309T=
n.1029+3146A=
c.1920T= (p.Thr640=)
c.1563T= (p.Thr521=)
n.2621T=
2g.166280393A>CCA429902165SCN1A-AS1,SCN9Ac.2307T>G (p.Thr769=)
c.2274T>G (p.Thr758=)
c.1309T>G
n.1029+3146A>C
c.1920T>G (p.Thr640=)
c.1563T>G (p.Thr521=)
n.2621T>G
2g.166280393A>GCA429902166SCN1A-AS1,SCN9Ac.2307T>C (p.Thr769=)
c.2274T>C (p.Thr758=)
c.1309T>C
n.1029+3146A>G
c.1920T>C (p.Thr640=)
c.1563T>C (p.Thr521=)
n.2621T>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280393A>TCA429902167SCN1A-AS1,SCN9Ac.2307T>A (p.Thr769=)
c.2274T>A (p.Thr758=)
c.1309T>A
n.1029+3146A>T
c.1920T>A (p.Thr640=)
c.1563T>A (p.Thr521=)
n.2621T>A
 dbSNP COSMIC COSMIC
2g.166280394G>ACA349079485SCN1A-AS1,SCN9Ac.2306C>T (p.Thr769Ile)
c.2273C>T (p.Thr758Ile)
c.1308C>T
n.1029+3147G>A
c.1919C>T (p.Thr640Ile)
c.1562C>T (p.Thr521Ile)
n.2620C>T
2g.166280394G>CCA349079487SCN1A-AS1,SCN9Ac.2306C>G (p.Thr769Ser)
c.2273C>G (p.Thr758Ser)
c.1308C>G
n.1029+3147G>C
c.1919C>G (p.Thr640Ser)
c.1562C>G (p.Thr521Ser)
n.2620C>G
2g.166280394G>TCA349079490SCN1A-AS1,SCN9Ac.2306C>A (p.Thr769Asn)
c.2273C>A (p.Thr758Asn)
c.1308C>A
n.1029+3147G>T
c.1919C>A (p.Thr640Asn)
c.1562C>A (p.Thr521Asn)
n.2620C>A
 gnomAD v4
2g.166280395T>ACA349079493SCN1A-AS1,SCN9Ac.2305A>T (p.Thr769Ser)
c.2272A>T (p.Thr758Ser)
c.1307A>T
n.1029+3148T>A
c.1918A>T (p.Thr640Ser)
c.1561A>T (p.Thr521Ser)
n.2619A>T
 gnomAD v4
2g.166280395T>CCA349079495SCN1A-AS1,SCN9Ac.2305A>G (p.Thr769Ala)
c.2272A>G (p.Thr758Ala)
c.1307A>G
n.1029+3148T>C
c.1918A>G (p.Thr640Ala)
c.1561A>G (p.Thr521Ala)
n.2619A>G
 gnomAD v4
2g.166280395T>GCA349079497SCN1A-AS1,SCN9Ac.2305A>C (p.Thr769Pro)
c.2272A>C (p.Thr758Pro)
c.1307A>C
n.1029+3148T>G
c.1918A>C (p.Thr640Pro)
c.1561A>C (p.Thr521Pro)
n.2619A>C
2g.166280396C>ACA349079501SCN1A-AS1,SCN9Ac.2304G>T (p.Met768Ile)
c.2271G>T (p.Met757Ile)
c.1306G>T
n.1029+3149C>A
c.1917G>T (p.Met639Ile)
c.1560G>T (p.Met520Ile)
n.2618G>T
 gnomAD v4
2g.166280396C=CA1304965674SCN1A-AS1,SCN9Ac.2304G= (p.Met768=)
c.2271G= (p.Met757=)
c.1306G=
n.1029+3149C=
c.1917G= (p.Met639=)
c.1560G= (p.Met520=)
n.2618G=
2g.166280396C>GCA349079504SCN1A-AS1,SCN9Ac.2304G>C (p.Met768Ile)
c.2271G>C (p.Met757Ile)
c.1306G>C
n.1029+3149C>G
c.1917G>C (p.Met639Ile)
c.1560G>C (p.Met520Ile)
n.2618G>C
2g.166280396C>TCA1944301SCN1A-AS1,SCN9Ac.2304G>A (p.Met768Ile)
c.2271G>A (p.Met757Ile)
c.1306G>A
n.1029+3149C>T
c.1917G>A (p.Met639Ile)
c.1560G>A (p.Met520Ile)
n.2618G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280397A>CCA349079505SCN1A-AS1,SCN9Ac.2303T>G (p.Met768Arg)
c.2270T>G (p.Met757Arg)
c.1305T>G
n.1029+3150A>C
c.1916T>G (p.Met639Arg)
c.1559T>G (p.Met520Arg)
n.2617T>G
2g.166280397A>GCA349079506SCN1A-AS1,SCN9Ac.2303T>C (p.Met768Thr)
c.2270T>C (p.Met757Thr)
c.1305T>C
n.1029+3150A>G
c.1916T>C (p.Met639Thr)
c.1559T>C (p.Met520Thr)
n.2617T>C
 gnomAD v4
2g.166280397A>TCA349079507SCN1A-AS1,SCN9Ac.2303T>A (p.Met768Lys)
c.2270T>A (p.Met757Lys)
c.1305T>A
n.1029+3150A>T
c.1916T>A (p.Met639Lys)
c.1559T>A (p.Met520Lys)
n.2617T>A
 ClinVar dbSNP
2g.166280398T>ACA349079508SCN1A-AS1,SCN9Ac.2302A>T (p.Met768Leu)
c.2269A>T (p.Met757Leu)
c.1304A>T
n.1029+3151T>A
c.1915A>T (p.Met639Leu)
c.1558A>T (p.Met520Leu)
n.2616A>T
2g.166280398T>CCA349079509SCN1A-AS1,SCN9Ac.2302A>G (p.Met768Val)
c.2269A>G (p.Met757Val)
c.1304A>G
n.1029+3151T>C
c.1915A>G (p.Met639Val)
c.1558A>G (p.Met520Val)
n.2616A>G
 ClinVar dbSNP gnomAD v4
2g.166280398T>GCA349079510SCN1A-AS1,SCN9Ac.2302A>C (p.Met768Leu)
c.2269A>C (p.Met757Leu)
c.1304A>C
n.1029+3151T>G
c.1915A>C (p.Met639Leu)
c.1558A>C (p.Met520Leu)
n.2616A>C
2g.166280398T=CA1304965676SCN1A-AS1,SCN9Ac.2302A= (p.Met768=)
c.2269A= (p.Met757=)
c.1304A=
n.1029+3151T=
c.1915A= (p.Met639=)
c.1558A= (p.Met520=)
n.2616A=
2g.166280399T>ACA429902179SCN1A-AS1,SCN9Ac.2301A>T (p.Pro767=)
c.2268A>T (p.Pro756=)
c.1303A>T
n.1029+3152T>A
c.1914A>T (p.Pro638=)
c.1557A>T (p.Pro519=)
n.2615A>T
2g.166280399T>CCA429902180SCN1A-AS1,SCN9Ac.2301A>G (p.Pro767=)
c.2268A>G (p.Pro756=)
c.1303A>G
n.1029+3152T>C
c.1914A>G (p.Pro638=)
c.1557A>G (p.Pro519=)
n.2615A>G
 gnomAD v4
2g.166280399T>GCA429902181SCN1A-AS1,SCN9Ac.2301A>C (p.Pro767=)
c.2268A>C (p.Pro756=)
c.1303A>C
n.1029+3152T>G
c.1914A>C (p.Pro638=)
c.1557A>C (p.Pro519=)
n.2615A>C
2g.166280400G>ACA349079511SCN1A-AS1,SCN9Ac.2300C>T (p.Pro767Leu)
c.2267C>T (p.Pro756Leu)
c.1302C>T
n.1029+3153G>A
c.1913C>T (p.Pro638Leu)
c.1556C>T (p.Pro519Leu)
n.2614C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166280400G>CCA349079512SCN1A-AS1,SCN9Ac.2300C>G (p.Pro767Arg)
c.2267C>G (p.Pro756Arg)
c.1302C>G
n.1029+3153G>C
c.1913C>G (p.Pro638Arg)
c.1556C>G (p.Pro519Arg)
n.2614C>G
2g.166280400G=CA1304965680SCN1A-AS1,SCN9Ac.2300C= (p.Pro767=)
c.2267C= (p.Pro756=)
c.1302C=
n.1029+3153G=
c.1913C= (p.Pro638=)
c.1556C= (p.Pro519=)
n.2614C=
2g.166280400G>TCA59796578SCN1A-AS1,SCN9Ac.2300C>A (p.Pro767Gln)
c.2267C>A (p.Pro756Gln)
c.1302C>A
n.1029+3153G>T
c.1913C>A (p.Pro638Gln)
c.1556C>A (p.Pro519Gln)
n.2614C>A
 ClinVar dbSNP gnomAD v4
2g.166280401G>ACA349079513SCN1A-AS1,SCN9Ac.2299C>T (p.Pro767Ser)
c.2266C>T (p.Pro756Ser)
c.1301C>T
n.1029+3154G>A
c.1912C>T (p.Pro638Ser)
c.1555C>T (p.Pro519Ser)
n.2613C>T
 ClinVar dbSNP gnomAD v4
2g.166280401G>CCA349079514SCN1A-AS1,SCN9Ac.2299C>G (p.Pro767Ala)
c.2266C>G (p.Pro756Ala)
c.1301C>G
n.1029+3154G>C
c.1912C>G (p.Pro638Ala)
c.1555C>G (p.Pro519Ala)
n.2613C>G
2g.166280401G=CA1304965683SCN1A-AS1,SCN9Ac.2299C= (p.Pro767=)
c.2266C= (p.Pro756=)
c.1301C=
n.1029+3154G=
c.1912C= (p.Pro638=)
c.1555C= (p.Pro519=)
n.2613C=
2g.166280401G>TCA1944302SCN1A-AS1,SCN9Ac.2299C>A (p.Pro767Thr)
c.2266C>A (p.Pro756Thr)
c.1301C>A
n.1029+3154G>T
c.1912C>A (p.Pro638Thr)
c.1555C>A (p.Pro519Thr)
n.2613C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280402G>ACA1944303SCN1A-AS1,SCN9Ac.2298C>T (p.His766=)
c.2265C>T (p.His755=)
c.1300C>T
n.1029+3155G>A
c.1911C>T (p.His637=)
c.1554C>T (p.His518=)
n.2612C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280402G>CCA349079516SCN1A-AS1,SCN9Ac.2298C>G (p.His766Gln)
c.2265C>G (p.His755Gln)
c.1300C>G
n.1029+3155G>C
c.1911C>G (p.His637Gln)
c.1554C>G (p.His518Gln)
n.2612C>G
2g.166280402G=CA1304965687SCN1A-AS1,SCN9Ac.2298C= (p.His766=)
c.2265C= (p.His755=)
c.1300C=
n.1029+3155G=
c.1911C= (p.His637=)
c.1554C= (p.His518=)
n.2612C=
2g.166280402G>TCA349079515SCN1A-AS1,SCN9Ac.2298C>A (p.His766Gln)
c.2265C>A (p.His755Gln)
c.1300C>A
n.1029+3155G>T
c.1911C>A (p.His637Gln)
c.1554C>A (p.His518Gln)
n.2612C>A
 gnomAD v4
2g.166280403T>ACA349079517SCN1A-AS1,SCN9Ac.2297A>T (p.His766Leu)
c.2264A>T (p.His755Leu)
c.1299A>T
n.1029+3156T>A
c.1910A>T (p.His637Leu)
c.1553A>T (p.His518Leu)
n.2611A>T
2g.166280403T>CCA349079518SCN1A-AS1,SCN9Ac.2297A>G (p.His766Arg)
c.2264A>G (p.His755Arg)
c.1299A>G
n.1029+3156T>C
c.1910A>G (p.His637Arg)
c.1553A>G (p.His518Arg)
n.2611A>G
 gnomAD v4
2g.166280403T>GCA349079519SCN1A-AS1,SCN9Ac.2297A>C (p.His766Pro)
c.2264A>C (p.His755Pro)
c.1299A>C
n.1029+3156T>G
c.1910A>C (p.His637Pro)
c.1553A>C (p.His518Pro)
n.2611A>C
2g.166280404G>ACA349079520SCN1A-AS1,SCN9Ac.2296C>T (p.His766Tyr)
c.2263C>T (p.His755Tyr)
c.1298C>T
n.1029+3157G>A
c.1909C>T (p.His637Tyr)
c.1552C>T (p.His518Tyr)
n.2610C>T
 gnomAD v4
2g.166280404G>CCA349079521SCN1A-AS1,SCN9Ac.2296C>G (p.His766Asp)
c.2263C>G (p.His755Asp)
c.1298C>G
n.1029+3157G>C
c.1909C>G (p.His637Asp)
c.1552C>G (p.His518Asp)
n.2610C>G
2g.166280404G>TCA349079522SCN1A-AS1,SCN9Ac.2296C>A (p.His766Asn)
c.2263C>A (p.His755Asn)
c.1298C>A
n.1029+3157G>T
c.1909C>A (p.His637Asn)
c.1552C>A (p.His518Asn)
n.2610C>A
 gnomAD v4
2g.166280405G>ACA429902187SCN1A-AS1,SCN9Ac.2295C>T (p.His765=)
c.2262C>T (p.His754=)
c.1297C>T
n.1029+3158G>A
c.1908C>T (p.His636=)
c.1551C>T (p.His517=)
n.2609C>T
 ClinVar dbSNP gnomAD v4
2g.166280405G>CCA349079523SCN1A-AS1,SCN9Ac.2295C>G (p.His765Gln)
c.2262C>G (p.His754Gln)
c.1297C>G
n.1029+3158G>C
c.1908C>G (p.His636Gln)
c.1551C>G (p.His517Gln)
n.2609C>G
2g.166280405G>TCA349079524SCN1A-AS1,SCN9Ac.2295C>A (p.His765Gln)
c.2262C>A (p.His754Gln)
c.1297C>A
n.1029+3158G>T
c.1908C>A (p.His636Gln)
c.1551C>A (p.His517Gln)
n.2609C>A
 gnomAD v4
2g.166280406T>ACA349079525SCN1A-AS1,SCN9Ac.2294A>T (p.His765Leu)
c.2261A>T (p.His754Leu)
c.1296A>T
n.1029+3159T>A
c.1907A>T (p.His636Leu)
c.1550A>T (p.His517Leu)
n.2608A>T
2g.166280406T>CCA349079526SCN1A-AS1,SCN9Ac.2294A>G (p.His765Arg)
c.2261A>G (p.His754Arg)
c.1296A>G
n.1029+3159T>C
c.1907A>G (p.His636Arg)
c.1550A>G (p.His517Arg)
n.2608A>G
2g.166280406T>GCA349079527SCN1A-AS1,SCN9Ac.2294A>C (p.His765Pro)
c.2261A>C (p.His754Pro)
c.1296A>C
n.1029+3159T>G
c.1907A>C (p.His636Pro)
c.1550A>C (p.His517Pro)
n.2608A>C
2g.166280407G>ACA349079528SCN1A-AS1,SCN9Ac.2293C>T (p.His765Tyr)
c.2260C>T (p.His754Tyr)
c.1295C>T
n.1029+3160G>A
c.1906C>T (p.His636Tyr)
c.1549C>T (p.His517Tyr)
n.2607C>T
 gnomAD v4
2g.166280407G>CCA349079529SCN1A-AS1,SCN9Ac.2293C>G (p.His765Asp)
c.2260C>G (p.His754Asp)
c.1295C>G
n.1029+3160G>C
c.1906C>G (p.His636Asp)
c.1549C>G (p.His517Asp)
n.2607C>G
2g.166280407G>TCA349079530SCN1A-AS1,SCN9Ac.2293C>A (p.His765Asn)
c.2260C>A (p.His754Asn)
c.1295C>A
n.1029+3160G>T
c.1906C>A (p.His636Asn)
c.1549C>A (p.His517Asn)
n.2607C>A
2g.166280408T>ACA349079532SCN1A-AS1,SCN9Ac.2292A>T (p.Glu764Asp)
c.2259A>T (p.Glu753Asp)
c.1294A>T
n.1029+3161T>A
c.1905A>T (p.Glu635Asp)
c.1548A>T (p.Glu516Asp)
n.2606A>T
2g.166280408T>CCA429902205SCN1A-AS1,SCN9Ac.2292A>G (p.Glu764=)
c.2259A>G (p.Glu753=)
c.1294A>G
n.1029+3161T>C
c.1905A>G (p.Glu635=)
c.1548A>G (p.Glu516=)
n.2606A>G
 gnomAD v4
2g.166280408T>GCA349079531SCN1A-AS1,SCN9Ac.2292A>C (p.Glu764Asp)
c.2259A>C (p.Glu753Asp)
c.1294A>C
n.1029+3161T>G
c.1905A>C (p.Glu635Asp)
c.1548A>C (p.Glu516Asp)
n.2606A>C
2g.166280409T>ACA349079533SCN1A-AS1,SCN9Ac.2291A>T (p.Glu764Val)
c.2258A>T (p.Glu753Val)
c.1293A>T
n.1029+3162T>A
c.1904A>T (p.Glu635Val)
c.1547A>T (p.Glu516Val)
n.2605A>T
2g.166280409T>CCA349079535SCN1A-AS1,SCN9Ac.2291A>G (p.Glu764Gly)
c.2258A>G (p.Glu753Gly)
c.1293A>G
n.1029+3162T>C
c.1904A>G (p.Glu635Gly)
c.1547A>G (p.Glu516Gly)
n.2605A>G
2g.166280409T>GCA349079534SCN1A-AS1,SCN9Ac.2291A>C (p.Glu764Ala)
c.2258A>C (p.Glu753Ala)
c.1293A>C
n.1029+3162T>G
c.1904A>C (p.Glu635Ala)
c.1547A>C (p.Glu516Ala)
n.2605A>C
2g.166280410C>ACA349079536SCN1A-AS1,SCN9Ac.2290G>T (p.Glu764Ter)
c.2257G>T (p.Glu753Ter)
c.1292G>T
n.1029+3163C>A
c.1903G>T (p.Glu635Ter)
c.1546G>T (p.Glu516Ter)
n.2604G>T
 dbSNP gnomAD v4
2g.166280410C=CA1304965689SCN1A-AS1,SCN9Ac.2290G= (p.Glu764=)
c.2257G= (p.Glu753=)
c.1292G=
n.1029+3163C=
c.1903G= (p.Glu635=)
c.1546G= (p.Glu516=)
n.2604G=
2g.166280410C>GCA349079538SCN1A-AS1,SCN9Ac.2290G>C (p.Glu764Gln)
c.2257G>C (p.Glu753Gln)
c.1292G>C
n.1029+3163C>G
c.1903G>C (p.Glu635Gln)
c.1546G>C (p.Glu516Gln)
n.2604G>C
2g.166280410C>TCA349079537SCN1A-AS1,SCN9Ac.2290G>A (p.Glu764Lys)
c.2257G>A (p.Glu753Lys)
c.1292G>A
n.1029+3163C>T
c.1903G>A (p.Glu635Lys)
c.1546G>A (p.Glu516Lys)
n.2604G>A
 gnomAD v4
2g.166280411C>ACA349079539SCN1A-AS1,SCN9Ac.2289G>T (p.Met763Ile)
c.2256G>T (p.Met752Ile)
c.1291G>T
n.1029+3164C>A
c.1902G>T (p.Met634Ile)
c.1545G>T (p.Met515Ile)
n.2603G>T
2g.166280411C>GCA349079540SCN1A-AS1,SCN9Ac.2289G>C (p.Met763Ile)
c.2256G>C (p.Met752Ile)
c.1291G>C
n.1029+3164C>G
c.1902G>C (p.Met634Ile)
c.1545G>C (p.Met515Ile)
n.2603G>C
 gnomAD v4
2g.166280411C>TCA349079541SCN1A-AS1,SCN9Ac.2289G>A (p.Met763Ile)
c.2256G>A (p.Met752Ile)
c.1291G>A
n.1029+3164C>T
c.1902G>A (p.Met634Ile)
c.1545G>A (p.Met515Ile)
n.2603G>A
2g.166280412A>CCA349079542SCN1A-AS1,SCN9Ac.2288T>G (p.Met763Arg)
c.2255T>G (p.Met752Arg)
c.1290T>G
n.1029+3165A>C
c.1901T>G (p.Met634Arg)
c.1544T>G (p.Met515Arg)
n.2602T>G
2g.166280412A>GCA349079543SCN1A-AS1,SCN9Ac.2288T>C (p.Met763Thr)
c.2255T>C (p.Met752Thr)
c.1290T>C
n.1029+3165A>G
c.1901T>C (p.Met634Thr)
c.1544T>C (p.Met515Thr)
n.2602T>C
 gnomAD v4
2g.166280412A>TCA349079544SCN1A-AS1,SCN9Ac.2288T>A (p.Met763Lys)
c.2255T>A (p.Met752Lys)
c.1290T>A
n.1029+3165A>T
c.1901T>A (p.Met634Lys)
c.1544T>A (p.Met515Lys)
n.2602T>A
 gnomAD v4
2g.166280413T>ACA349079545SCN1A-AS1,SCN9Ac.2287A>T (p.Met763Leu)
c.2254A>T (p.Met752Leu)
c.1289A>T
n.1029+3166T>A
c.1900A>T (p.Met634Leu)
c.1543A>T (p.Met515Leu)
n.2601A>T
2g.166280413T>CCA59796589SCN1A-AS1,SCN9Ac.2287A>G (p.Met763Val)
c.2254A>G (p.Met752Val)
c.1289A>G
n.1029+3166T>C
c.1900A>G (p.Met634Val)
c.1543A>G (p.Met515Val)
n.2601A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280413T>GCA349079546SCN1A-AS1,SCN9Ac.2287A>C (p.Met763Leu)
c.2254A>C (p.Met752Leu)
c.1289A>C
n.1029+3166T>G
c.1900A>C (p.Met634Leu)
c.1543A>C (p.Met515Leu)
n.2601A>C
2g.166280413T=CA1304965693SCN1A-AS1,SCN9Ac.2287A= (p.Met763=)
c.2254A= (p.Met752=)
c.1289A=
n.1029+3166T=
c.1900A= (p.Met634=)
c.1543A= (p.Met515=)
n.2601A=
2g.166280414A>CCA429902223SCN1A-AS1,SCN9Ac.2286T>G (p.Ala762=)
c.2253T>G (p.Ala751=)
c.1288T>G
n.1029+3167A>C
c.1899T>G (p.Ala633=)
c.1542T>G (p.Ala514=)
n.2600T>G
2g.166280414A>GCA429902224SCN1A-AS1,SCN9Ac.2286T>C (p.Ala762=)
c.2253T>C (p.Ala751=)
c.1288T>C
n.1029+3167A>G
c.1899T>C (p.Ala633=)
c.1542T>C (p.Ala514=)
n.2600T>C
 ClinVar dbSNP gnomAD v4
2g.166280414A>TCA429902225SCN1A-AS1,SCN9Ac.2286T>A (p.Ala762=)
c.2253T>A (p.Ala751=)
c.1288T>A
n.1029+3167A>T
c.1899T>A (p.Ala633=)
c.1542T>A (p.Ala514=)
n.2600T>A
2g.166280415G>ACA349079547SCN1A-AS1,SCN9Ac.2285C>T (p.Ala762Val)
c.2252C>T (p.Ala751Val)
c.1287C>T
n.1029+3168G>A
c.1898C>T (p.Ala633Val)
c.1541C>T (p.Ala514Val)
n.2599C>T
 gnomAD v4 COSMIC COSMIC
2g.166280415G>CCA349079548SCN1A-AS1,SCN9Ac.2285C>G (p.Ala762Gly)
c.2252C>G (p.Ala751Gly)
c.1287C>G
n.1029+3168G>C
c.1898C>G (p.Ala633Gly)
c.1541C>G (p.Ala514Gly)
n.2599C>G
 gnomAD v4
2g.166280415G>TCA349079549SCN1A-AS1,SCN9Ac.2285C>A (p.Ala762Asp)
c.2252C>A (p.Ala751Asp)
c.1287C>A
n.1029+3168G>T
c.1898C>A (p.Ala633Asp)
c.1541C>A (p.Ala514Asp)
n.2599C>A
2g.166280416C>ACA349079550SCN1A-AS1,SCN9Ac.2284G>T (p.Ala762Ser)
c.2251G>T (p.Ala751Ser)
c.1286G>T
n.1029+3169C>A
c.1897G>T (p.Ala633Ser)
c.1540G>T (p.Ala514Ser)
n.2598G>T
 gnomAD v4
2g.166280416C>GCA349079552SCN1A-AS1,SCN9Ac.2284G>C (p.Ala762Pro)
c.2251G>C (p.Ala751Pro)
c.1286G>C
n.1029+3169C>G
c.1897G>C (p.Ala633Pro)
c.1540G>C (p.Ala514Pro)
n.2598G>C
2g.166280416C>TCA349079551SCN1A-AS1,SCN9Ac.2284G>A (p.Ala762Thr)
c.2251G>A (p.Ala751Thr)
c.1286G>A
n.1029+3169C>T
c.1897G>A (p.Ala633Thr)
c.1540G>A (p.Ala514Thr)
n.2598G>A
 gnomAD v4
2g.166280417C>ACA349079553SCN1A-AS1,SCN9Ac.2283G>T (p.Met761Ile)
c.2250G>T (p.Met750Ile)
c.1285G>T
n.1029+3170C>A
c.1896G>T (p.Met632Ile)
c.1539G>T (p.Met513Ile)
n.2597G>T
 gnomAD v4
2g.166280417C>GCA349079554SCN1A-AS1,SCN9Ac.2283G>C (p.Met761Ile)
c.2250G>C (p.Met750Ile)
c.1285G>C
n.1029+3170C>G
c.1896G>C (p.Met632Ile)
c.1539G>C (p.Met513Ile)
n.2597G>C
2g.166280417C>TCA349079555SCN1A-AS1,SCN9Ac.2283G>A (p.Met761Ile)
c.2250G>A (p.Met750Ile)
c.1285G>A
n.1029+3170C>T
c.1896G>A (p.Met632Ile)
c.1539G>A (p.Met513Ile)
n.2597G>A
 gnomAD v4
2g.166280418A=CA1304965696SCN1A-AS1,SCN9Ac.2282T= (p.Met761=)
c.2249T= (p.Met750=)
c.1284T=
n.1029+3171A=
c.1895T= (p.Met632=)
c.1538T= (p.Met513=)
n.2596T=
2g.166280418A>CCA349079556SCN1A-AS1,SCN9Ac.2282T>G (p.Met761Arg)
c.2249T>G (p.Met750Arg)
c.1284T>G
n.1029+3171A>C
c.1895T>G (p.Met632Arg)
c.1538T>G (p.Met513Arg)
n.2596T>G
2g.166280418A>GCA349079557SCN1A-AS1,SCN9Ac.2282T>C (p.Met761Thr)
c.2249T>C (p.Met750Thr)
c.1284T>C
n.1029+3171A>G
c.1895T>C (p.Met632Thr)
c.1538T>C (p.Met513Thr)
n.2596T>C
2g.166280418A>TCA349079558SCN1A-AS1,SCN9Ac.2282T>A (p.Met761Lys)
c.2249T>A (p.Met750Lys)
c.1284T>A
n.1029+3171A>T
c.1895T>A (p.Met632Lys)
c.1538T>A (p.Met513Lys)
n.2596T>A
 ClinVar dbSNP
2g.166280419T>ACA349079559SCN1A-AS1,SCN9Ac.2281A>T (p.Met761Leu)
c.2248A>T (p.Met750Leu)
c.1283A>T
n.1029+3172T>A
c.1894A>T (p.Met632Leu)
c.1537A>T (p.Met513Leu)
n.2595A>T
2g.166280419T>CCA349079560SCN1A-AS1,SCN9Ac.2281A>G (p.Met761Val)
c.2248A>G (p.Met750Val)
c.1283A>G
n.1029+3172T>C
c.1894A>G (p.Met632Val)
c.1537A>G (p.Met513Val)
n.2595A>G
2g.166280419T>GCA349079561SCN1A-AS1,SCN9Ac.2281A>C (p.Met761Leu)
c.2248A>C (p.Met750Leu)
c.1283A>C
n.1029+3172T>G
c.1894A>C (p.Met632Leu)
c.1537A>C (p.Met513Leu)
n.2595A>C
2g.166280420A>CCA349079563SCN1A-AS1,SCN9Ac.2280T>G (p.Phe760Leu)
c.2247T>G (p.Phe749Leu)
c.1282T>G
n.1029+3173A>C
c.1893T>G (p.Phe631Leu)
c.1536T>G (p.Phe512Leu)
n.2594T>G
2g.166280420A>GCA429902236SCN1A-AS1,SCN9Ac.2280T>C (p.Phe760=)
c.2247T>C (p.Phe749=)
c.1282T>C
n.1029+3173A>G
c.1893T>C (p.Phe631=)
c.1536T>C (p.Phe512=)
n.2594T>C
 gnomAD v4
2g.166280420A>TCA349079562SCN1A-AS1,SCN9Ac.2280T>A (p.Phe760Leu)
c.2247T>A (p.Phe749Leu)
c.1282T>A
n.1029+3173A>T
c.1893T>A (p.Phe631Leu)
c.1536T>A (p.Phe512Leu)
n.2594T>A
2g.166280421A=CA1304965698SCN1A-AS1,SCN9Ac.2279T= (p.Phe760=)
c.2246T= (p.Phe749=)
c.1281T=
n.1029+3174A=
c.1892T= (p.Phe631=)
c.1535T= (p.Phe512=)
n.2593T=
2g.166280421A>CCA349079564SCN1A-AS1,SCN9Ac.2279T>G (p.Phe760Cys)
c.2246T>G (p.Phe749Cys)
c.1281T>G
n.1029+3174A>C
c.1892T>G (p.Phe631Cys)
c.1535T>G (p.Phe512Cys)
n.2593T>G
2g.166280421A>GCA349079565SCN1A-AS1,SCN9Ac.2279T>C (p.Phe760Ser)
c.2246T>C (p.Phe749Ser)
c.1281T>C
n.1029+3174A>G
c.1892T>C (p.Phe631Ser)
c.1535T>C (p.Phe512Ser)
n.2593T>C
 dbSNP gnomAD v2 gnomAD v4
2g.166280421A>TCA349079566SCN1A-AS1,SCN9Ac.2279T>A (p.Phe760Tyr)
c.2246T>A (p.Phe749Tyr)
c.1281T>A
n.1029+3174A>T
c.1892T>A (p.Phe631Tyr)
c.1535T>A (p.Phe512Tyr)
n.2593T>A
2g.166280422A>CCA349079567SCN1A-AS1,SCN9Ac.2278T>G (p.Phe760Val)
c.2245T>G (p.Phe749Val)
c.1280T>G
n.1029+3175A>C
c.1891T>G (p.Phe631Val)
c.1534T>G (p.Phe512Val)
n.2592T>G
2g.166280422A>GCA349079568SCN1A-AS1,SCN9Ac.2278T>C (p.Phe760Leu)
c.2245T>C (p.Phe749Leu)
c.1280T>C
n.1029+3175A>G
c.1891T>C (p.Phe631Leu)
c.1534T>C (p.Phe512Leu)
n.2592T>C
2g.166280422A>TCA349079569SCN1A-AS1,SCN9Ac.2278T>A (p.Phe760Ile)
c.2245T>A (p.Phe749Ile)
c.1280T>A
n.1029+3175A>T
c.1891T>A (p.Phe631Ile)
c.1534T>A (p.Phe512Ile)
n.2592T>A
 gnomAD v4
2g.166280423T>ACA349079571SCN1A-AS1,SCN9Ac.2277A>T (p.Leu759Phe)
c.2244A>T (p.Leu748Phe)
c.1279A>T
n.1029+3176T>A
c.1890A>T (p.Leu630Phe)
c.1533A>T (p.Leu511Phe)
n.2591A>T
 ClinVar dbSNP
2g.166280423T>CCA59796596SCN1A-AS1,SCN9Ac.2277A>G (p.Leu759=)
c.2244A>G (p.Leu748=)
c.1279A>G
n.1029+3176T>C
c.1890A>G (p.Leu630=)
c.1533A>G (p.Leu511=)
n.2591A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280423T>GCA349079570SCN1A-AS1,SCN9Ac.2277A>C (p.Leu759Phe)
c.2244A>C (p.Leu748Phe)
c.1279A>C
n.1029+3176T>G
c.1890A>C (p.Leu630Phe)
c.1533A>C (p.Leu511Phe)
n.2591A>C
2g.166280423T=CA1304965702SCN1A-AS1,SCN9Ac.2277A= (p.Leu759=)
c.2244A= (p.Leu748=)
c.1279A=
n.1029+3176T=
c.1890A= (p.Leu630=)
c.1533A= (p.Leu511=)
n.2591A=
2g.166280424A>CCA349079572SCN1A-AS1,SCN9Ac.2276T>G (p.Leu759Ter)
c.2243T>G (p.Leu748Ter)
c.1278T>G
n.1029+3177A>C
c.1889T>G (p.Leu630Ter)
c.1532T>G (p.Leu511Ter)
n.2590T>G
2g.166280424A>GCA349079573SCN1A-AS1,SCN9Ac.2276T>C (p.Leu759Ser)
c.2243T>C (p.Leu748Ser)
c.1278T>C
n.1029+3177A>G
c.1889T>C (p.Leu630Ser)
c.1532T>C (p.Leu511Ser)
n.2590T>C
 gnomAD v4
2g.166280424A>TCA349079574SCN1A-AS1,SCN9Ac.2276T>A (p.Leu759Ter)
c.2243T>A (p.Leu748Ter)
c.1278T>A
n.1029+3177A>T
c.1889T>A (p.Leu630Ter)
c.1532T>A (p.Leu511Ter)
n.2590T>A
2g.166280425A>CCA349079575SCN1A-AS1,SCN9Ac.2275T>G (p.Leu759Val)
c.2242T>G (p.Leu748Val)
c.1277T>G
n.1029+3178A>C
c.1888T>G (p.Leu630Val)
c.1531T>G (p.Leu511Val)
n.2589T>G
2g.166280425A>GCA429902242SCN1A-AS1,SCN9Ac.2275T>C (p.Leu759=)
c.2242T>C (p.Leu748=)
c.1277T>C
n.1029+3178A>G
c.1888T>C (p.Leu630=)
c.1531T>C (p.Leu511=)
n.2589T>C
2g.166280425A>TCA349079576SCN1A-AS1,SCN9Ac.2275T>A (p.Leu759Ile)
c.2242T>A (p.Leu748Ile)
c.1277T>A
n.1029+3178A>T
c.1888T>A (p.Leu630Ile)
c.1531T>A (p.Leu511Ile)
n.2589T>A
2g.166280426T>ACA429902247SCN1A-AS1,SCN9Ac.2274A>T (p.Thr758=)
c.2241A>T (p.Thr747=)
c.1276A>T
n.1029+3179T>A
c.1887A>T (p.Thr629=)
c.1530A>T (p.Thr510=)
n.2588A>T
2g.166280426T>CCA429902248SCN1A-AS1,SCN9Ac.2274A>G (p.Thr758=)
c.2241A>G (p.Thr747=)
c.1276A>G
n.1029+3179T>C
c.1887A>G (p.Thr629=)
c.1530A>G (p.Thr510=)
n.2588A>G
 dbSNP
2g.166280426T>GCA429902249SCN1A-AS1,SCN9Ac.2274A>C (p.Thr758=)
c.2241A>C (p.Thr747=)
c.1276A>C
n.1029+3179T>G
c.1887A>C (p.Thr629=)
c.1530A>C (p.Thr510=)
n.2588A>C
2g.166280426T=CA1304965703SCN1A-AS1,SCN9Ac.2274A= (p.Thr758=)
c.2241A= (p.Thr747=)
c.1276A=
n.1029+3179T=
c.1887A= (p.Thr629=)
c.1530A= (p.Thr510=)
n.2588A=
2g.166280427G>ACA349079577SCN1A-AS1,SCN9Ac.2273C>T (p.Thr758Ile)
c.2240C>T (p.Thr747Ile)
c.1275C>T
n.1029+3180G>A
c.1886C>T (p.Thr629Ile)
c.1529C>T (p.Thr510Ile)
n.2587C>T
2g.166280427G>CCA349079579SCN1A-AS1,SCN9Ac.2273C>G (p.Thr758Arg)
c.2240C>G (p.Thr747Arg)
c.1275C>G
n.1029+3180G>C
c.1886C>G (p.Thr629Arg)
c.1529C>G (p.Thr510Arg)
n.2587C>G
2g.166280427G>TCA349079578SCN1A-AS1,SCN9Ac.2273C>A (p.Thr758Lys)
c.2240C>A (p.Thr747Lys)
c.1275C>A
n.1029+3180G>T
c.1886C>A (p.Thr629Lys)
c.1529C>A (p.Thr510Lys)
n.2587C>A
 gnomAD v4
2g.166280428T>ACA349079580SCN1A-AS1,SCN9Ac.2272A>T (p.Thr758Ser)
c.2239A>T (p.Thr747Ser)
c.1274A>T
n.1029+3181T>A
c.1885A>T (p.Thr629Ser)
c.1528A>T (p.Thr510Ser)
n.2586A>T
 gnomAD v4
2g.166280428T>CCA349079581SCN1A-AS1,SCN9Ac.2272A>G (p.Thr758Ala)
c.2239A>G (p.Thr747Ala)
c.1274A>G
n.1029+3181T>C
c.1885A>G (p.Thr629Ala)
c.1528A>G (p.Thr510Ala)
n.2586A>G
 dbSNP gnomAD v2
2g.166280428T>GCA349079582SCN1A-AS1,SCN9Ac.2272A>C (p.Thr758Pro)
c.2239A>C (p.Thr747Pro)
c.1274A>C
n.1029+3181T>G
c.1885A>C (p.Thr629Pro)
c.1528A>C (p.Thr510Pro)
n.2586A>C
2g.166280428T=CA1304965704SCN1A-AS1,SCN9Ac.2272A= (p.Thr758=)
c.2239A= (p.Thr747=)
c.1274A=
n.1029+3181T=
c.1885A= (p.Thr629=)
c.1528A= (p.Thr510=)
n.2586A=
2g.166280429G>ACA429902254SCN1A-AS1,SCN9Ac.2271C>T (p.Asn757=)
c.2238C>T (p.Asn746=)
c.1273C>T
n.1029+3182G>A
c.1884C>T (p.Asn628=)
c.1527C>T (p.Asn509=)
n.2585C>T
 ClinVar dbSNP
2g.166280429G>CCA349079583SCN1A-AS1,SCN9Ac.2271C>G (p.Asn757Lys)
c.2238C>G (p.Asn746Lys)
c.1273C>G
n.1029+3182G>C
c.1884C>G (p.Asn628Lys)
c.1527C>G (p.Asn509Lys)
n.2585C>G
2g.166280429G>TCA349079584SCN1A-AS1,SCN9Ac.2271C>A (p.Asn757Lys)
c.2238C>A (p.Asn746Lys)
c.1273C>A
n.1029+3182G>T
c.1884C>A (p.Asn628Lys)
c.1527C>A (p.Asn509Lys)
n.2585C>A
 gnomAD v4
2g.166280430T>ACA349079585SCN1A-AS1,SCN9Ac.2270A>T (p.Asn757Ile)
c.2237A>T (p.Asn746Ile)
c.1272A>T
n.1029+3183T>A
c.1883A>T (p.Asn628Ile)
c.1526A>T (p.Asn509Ile)
n.2584A>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280430T>CCA349079586SCN1A-AS1,SCN9Ac.2270A>G (p.Asn757Ser)
c.2237A>G (p.Asn746Ser)
c.1272A>G
n.1029+3183T>C
c.1883A>G (p.Asn628Ser)
c.1526A>G (p.Asn509Ser)
n.2584A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280430T>GCA349079587SCN1A-AS1,SCN9Ac.2270A>C (p.Asn757Thr)
c.2237A>C (p.Asn746Thr)
c.1272A>C
n.1029+3183T>G
c.1883A>C (p.Asn628Thr)
c.1526A>C (p.Asn509Thr)
n.2584A>C
2g.166280430T=CA1304965706SCN1A-AS1,SCN9Ac.2270A= (p.Asn757=)
c.2237A= (p.Asn746=)
c.1272A=
n.1029+3183T=
c.1883A= (p.Asn628=)
c.1526A= (p.Asn509=)
n.2584A=
2g.166280431T>ACA349079588SCN1A-AS1,SCN9Ac.2269A>T (p.Asn757Tyr)
c.2236A>T (p.Asn746Tyr)
c.1271A>T
n.1029+3184T>A
c.1882A>T (p.Asn628Tyr)
c.1525A>T (p.Asn509Tyr)
n.2583A>T
2g.166280431T>CCA349079589SCN1A-AS1,SCN9Ac.2269A>G (p.Asn757Asp)
c.2236A>G (p.Asn746Asp)
c.1271A>G
n.1029+3184T>C
c.1882A>G (p.Asn628Asp)
c.1525A>G (p.Asn509Asp)
n.2583A>G
2g.166280431T>GCA349079590SCN1A-AS1,SCN9Ac.2269A>C (p.Asn757His)
c.2236A>C (p.Asn746His)
c.1271A>C
n.1029+3184T>G
c.1882A>C (p.Asn628His)
c.1525A>C (p.Asn509His)
n.2583A>C
2g.166280432T>ACA349079592SCN1A-AS1,SCN9Ac.2268A>T (p.Leu756Phe)
c.2235A>T (p.Leu745Phe)
c.1270A>T
n.1029+3185T>A
c.1881A>T (p.Leu627Phe)
c.1524A>T (p.Leu508Phe)
n.2582A>T
2g.166280432T>CCA59796602SCN1A-AS1,SCN9Ac.2268A>G (p.Leu756=)
c.2235A>G (p.Leu745=)
c.1270A>G
n.1029+3185T>C
c.1881A>G (p.Leu627=)
c.1524A>G (p.Leu508=)
n.2582A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280432T>GCA349079591SCN1A-AS1,SCN9Ac.2268A>C (p.Leu756Phe)
c.2235A>C (p.Leu745Phe)
c.1270A>C
n.1029+3185T>G
c.1881A>C (p.Leu627Phe)
c.1524A>C (p.Leu508Phe)
n.2582A>C
2g.166280432T=CA1304965709SCN1A-AS1,SCN9Ac.2268A= (p.Leu756=)
c.2235A= (p.Leu745=)
c.1270A=
n.1029+3185T=
c.1881A= (p.Leu627=)
c.1524A= (p.Leu508=)
n.2582A=
2g.166280433A>CCA349079593SCN1A-AS1,SCN9Ac.2267T>G (p.Leu756Ter)
c.2234T>G (p.Leu745Ter)
c.1269T>G
n.1029+3186A>C
c.1880T>G (p.Leu627Ter)
c.1523T>G (p.Leu508Ter)
n.2581T>G
2g.166280433A>GCA349079594SCN1A-AS1,SCN9Ac.2267T>C (p.Leu756Ser)
c.2234T>C (p.Leu745Ser)
c.1269T>C
n.1029+3186A>G
c.1880T>C (p.Leu627Ser)
c.1523T>C (p.Leu508Ser)
n.2581T>C
 gnomAD v4
2g.166280433A>TCA349079595SCN1A-AS1,SCN9Ac.2267T>A (p.Leu756Ter)
c.2234T>A (p.Leu745Ter)
c.1269T>A
n.1029+3186A>T
c.1880T>A (p.Leu627Ter)
c.1523T>A (p.Leu508Ter)
n.2581T>A
2g.166280434A>CCA349079596SCN1A-AS1,SCN9Ac.2266T>G (p.Leu756Val)
c.2233T>G (p.Leu745Val)
c.1268T>G
n.1029+3187A>C
c.1879T>G (p.Leu627Val)
c.1522T>G (p.Leu508Val)
n.2580T>G
2g.166280434A>GCA429902273SCN1A-AS1,SCN9Ac.2266T>C (p.Leu756=)
c.2233T>C (p.Leu745=)
c.1268T>C
n.1029+3187A>G
c.1879T>C (p.Leu627=)
c.1522T>C (p.Leu508=)
n.2580T>C
2g.166280434A>TCA349079597SCN1A-AS1,SCN9Ac.2266T>A (p.Leu756Ile)
c.2233T>A (p.Leu745Ile)
c.1268T>A
n.1029+3187A>T
c.1879T>A (p.Leu627Ile)
c.1522T>A (p.Leu508Ile)
n.2580T>A
2g.166280435A>CCA429902275SCN1A-AS1,SCN9Ac.2265T>G (p.Val755=)
c.2232T>G (p.Val744=)
c.1267T>G
n.1029+3188A>C
c.1878T>G (p.Val626=)
c.1521T>G (p.Val507=)
n.2579T>G
2g.166280435A>GCA429902279SCN1A-AS1,SCN9Ac.2265T>C (p.Val755=)
c.2232T>C (p.Val744=)
c.1267T>C
n.1029+3188A>G
c.1878T>C (p.Val626=)
c.1521T>C (p.Val507=)
n.2579T>C
 gnomAD v4
2g.166280435A>TCA429902282SCN1A-AS1,SCN9Ac.2265T>A (p.Val755=)
c.2232T>A (p.Val744=)
c.1267T>A
n.1029+3188A>T
c.1878T>A (p.Val626=)
c.1521T>A (p.Val507=)
n.2579T>A
2g.166280436A>CCA349079600SCN1A-AS1,SCN9Ac.2264T>G (p.Val755Gly)
c.2231T>G (p.Val744Gly)
c.1266T>G
n.1029+3189A>C
c.1877T>G (p.Val626Gly)
c.1520T>G (p.Val507Gly)
n.2578T>G
2g.166280436A>GCA349079599SCN1A-AS1,SCN9Ac.2264T>C (p.Val755Ala)
c.2231T>C (p.Val744Ala)
c.1266T>C
n.1029+3189A>G
c.1877T>C (p.Val626Ala)
c.1520T>C (p.Val507Ala)
n.2578T>C
 dbSNP gnomAD v4
2g.166280436A>TCA349079598SCN1A-AS1,SCN9Ac.2264T>A (p.Val755Asp)
c.2231T>A (p.Val744Asp)
c.1266T>A
n.1029+3189A>T
c.1877T>A (p.Val626Asp)
c.1520T>A (p.Val507Asp)
n.2578T>A
2g.166280437C>ACA349079601SCN1A-AS1,SCN9Ac.2263G>T (p.Val755Phe)
c.2230G>T (p.Val744Phe)
c.1265G>T
n.1029+3190C>A
c.1876G>T (p.Val626Phe)
c.1519G>T (p.Val507Phe)
n.2577G>T
 gnomAD v4
2g.166280437C=CA1304965711SCN1A-AS1,SCN9Ac.2263G= (p.Val755=)
c.2230G= (p.Val744=)
c.1265G=
n.1029+3190C=
c.1876G= (p.Val626=)
c.1519G= (p.Val507=)
n.2577G=
2g.166280437C>GCA349079602SCN1A-AS1,SCN9Ac.2263G>C (p.Val755Leu)
c.2230G>C (p.Val744Leu)
c.1265G>C
n.1029+3190C>G
c.1876G>C (p.Val626Leu)
c.1519G>C (p.Val507Leu)
n.2577G>C
 gnomAD v4
2g.166280437C>TCA349079603SCN1A-AS1,SCN9Ac.2263G>A (p.Val755Ile)
c.2230G>A (p.Val744Ile)
c.1265G>A
n.1029+3190C>T
c.1876G>A (p.Val626Ile)
c.1519G>A (p.Val507Ile)
n.2577G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280438T>ACA429902288SCN1A-AS1,SCN9Ac.2262A>T (p.Ile754=)
c.2229A>T (p.Ile743=)
c.1264A>T
n.1029+3191T>A
c.1875A>T (p.Ile625=)
c.1518A>T (p.Ile506=)
n.2576A>T
2g.166280438T>CCA349079604SCN1A-AS1,SCN9Ac.2262A>G (p.Ile754Met)
c.2229A>G (p.Ile743Met)
c.1264A>G
n.1029+3191T>C
c.1875A>G (p.Ile625Met)
c.1518A>G (p.Ile506Met)
n.2576A>G
2g.166280438T>GCA429902287SCN1A-AS1,SCN9Ac.2262A>C (p.Ile754=)
c.2229A>C (p.Ile743=)
c.1264A>C
n.1029+3191T>G
c.1875A>C (p.Ile625=)
c.1518A>C (p.Ile506=)
n.2576A>C
2g.166280439A>CCA349079605SCN1A-AS1,SCN9Ac.2261T>G (p.Ile754Arg)
c.2228T>G (p.Ile743Arg)
c.1263T>G
n.1029+3192A>C
c.1874T>G (p.Ile625Arg)
c.1517T>G (p.Ile506Arg)
n.2575T>G
2g.166280439A>GCA349079606SCN1A-AS1,SCN9Ac.2261T>C (p.Ile754Thr)
c.2228T>C (p.Ile743Thr)
c.1263T>C
n.1029+3192A>G
c.1874T>C (p.Ile625Thr)
c.1517T>C (p.Ile506Thr)
n.2575T>C
2g.166280439A>TCA349079607SCN1A-AS1,SCN9Ac.2261T>A (p.Ile754Lys)
c.2228T>A (p.Ile743Lys)
c.1263T>A
n.1029+3192A>T
c.1874T>A (p.Ile625Lys)
c.1517T>A (p.Ile506Lys)
n.2575T>A
2g.166280440T>ACA349079608SCN1A-AS1,SCN9Ac.2260A>T (p.Ile754Leu)
c.2227A>T (p.Ile743Leu)
c.1262A>T
n.1029+3193T>A
c.1873A>T (p.Ile625Leu)
c.1516A>T (p.Ile506Leu)
n.2574A>T
2g.166280440T>CCA1944304SCN1A-AS1,SCN9Ac.2260A>G (p.Ile754Val)
c.2227A>G (p.Ile743Val)
c.1262A>G
n.1029+3193T>C
c.1873A>G (p.Ile625Val)
c.1516A>G (p.Ile506Val)
n.2574A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280440T>GCA349079609SCN1A-AS1,SCN9Ac.2260A>C (p.Ile754Leu)
c.2227A>C (p.Ile743Leu)
c.1262A>C
n.1029+3193T>G
c.1873A>C (p.Ile625Leu)
c.1516A>C (p.Ile506Leu)
n.2574A>C
2g.166280440T=CA1304965713SCN1A-AS1,SCN9Ac.2260A= (p.Ile754=)
c.2227A= (p.Ile743=)
c.1262A=
n.1029+3193T=
c.1873A= (p.Ile625=)
c.1516A= (p.Ile506=)
n.2574A=
2g.166280441G>ACA429902296SCN1A-AS1,SCN9Ac.2259C>T (p.Cys753=)
c.2226C>T (p.Cys742=)
c.1261C>T
n.1029+3194G>A
c.1872C>T (p.Cys624=)
c.1515C>T (p.Cys505=)
n.2573C>T
 gnomAD v4
2g.166280441G>CCA349079610SCN1A-AS1,SCN9Ac.2259C>G (p.Cys753Trp)
c.2226C>G (p.Cys742Trp)
c.1261C>G
n.1029+3194G>C
c.1872C>G (p.Cys624Trp)
c.1515C>G (p.Cys505Trp)
n.2573C>G
2g.166280441G=CA1304965714SCN1A-AS1,SCN9Ac.2259C= (p.Cys753=)
c.2226C= (p.Cys742=)
c.1261C=
n.1029+3194G=
c.1872C= (p.Cys624=)
c.1515C= (p.Cys505=)
n.2573C=
2g.166280441G>TCA349079611SCN1A-AS1,SCN9Ac.2259C>A (p.Cys753Ter)
c.2226C>A (p.Cys742Ter)
c.1261C>A
n.1029+3194G>T
c.1872C>A (p.Cys624Ter)
c.1515C>A (p.Cys505Ter)
n.2573C>A
 dbSNP
2g.166280442C>ACA1944305SCN1A-AS1,SCN9Ac.2258G>T (p.Cys753Phe)
c.2225G>T (p.Cys742Phe)
c.1260G>T
n.1029+3195C>A
c.1871G>T (p.Cys624Phe)
c.1514G>T (p.Cys505Phe)
n.2572G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280442C=CA1304965716SCN1A-AS1,SCN9Ac.2258G= (p.Cys753=)
c.2225G= (p.Cys742=)
c.1260G=
n.1029+3195C=
c.1871G= (p.Cys624=)
c.1514G= (p.Cys505=)
n.2572G=
2g.166280442C>GCA349079612SCN1A-AS1,SCN9Ac.2258G>C (p.Cys753Ser)
c.2225G>C (p.Cys742Ser)
c.1260G>C
n.1029+3195C>G
c.1871G>C (p.Cys624Ser)
c.1514G>C (p.Cys505Ser)
n.2572G>C
2g.166280442C>TCA349079613SCN1A-AS1,SCN9Ac.2258G>A (p.Cys753Tyr)
c.2225G>A (p.Cys742Tyr)
c.1260G>A
n.1029+3195C>T
c.1871G>A (p.Cys624Tyr)
c.1514G>A (p.Cys505Tyr)
n.2572G>A
 ClinVar dbSNP gnomAD v4
2g.166280443A>CCA349079614SCN1A-AS1,SCN9Ac.2257T>G (p.Cys753Gly)
c.2224T>G (p.Cys742Gly)
c.1259T>G
n.1029+3196A>C
c.1870T>G (p.Cys624Gly)
c.1513T>G (p.Cys505Gly)
n.2571T>G
2g.166280443A>GCA349079615SCN1A-AS1,SCN9Ac.2257T>C (p.Cys753Arg)
c.2224T>C (p.Cys742Arg)
c.1259T>C
n.1029+3196A>G
c.1870T>C (p.Cys624Arg)
c.1513T>C (p.Cys505Arg)
n.2571T>C
2g.166280443A>TCA349079616SCN1A-AS1,SCN9Ac.2257T>A (p.Cys753Ser)
c.2224T>A (p.Cys742Ser)
c.1259T>A
n.1029+3196A>T
c.1870T>A (p.Cys624Ser)
c.1513T>A (p.Cys505Ser)
n.2571T>A
2g.166280444A>CCA349079617SCN1A-AS1,SCN9Ac.2256T>G (p.Ile752Met)
c.2223T>G (p.Ile741Met)
c.1258T>G
n.1029+3197A>C
c.1869T>G (p.Ile623Met)
c.1512T>G (p.Ile504Met)
n.2570T>G
2g.166280444A>GCA429902305SCN1A-AS1,SCN9Ac.2256T>C (p.Ile752=)
c.2223T>C (p.Ile741=)
c.1258T>C
n.1029+3197A>G
c.1869T>C (p.Ile623=)
c.1512T>C (p.Ile504=)
n.2570T>C
2g.166280444A>TCA429902308SCN1A-AS1,SCN9Ac.2256T>A (p.Ile752=)
c.2223T>A (p.Ile741=)
c.1258T>A
n.1029+3197A>T
c.1869T>A (p.Ile623=)
c.1512T>A (p.Ile504=)
n.2570T>A
2g.166280445A=CA1304965718SCN1A-AS1,SCN9Ac.2255T= (p.Ile752=)
c.2222T= (p.Ile741=)
c.1257T=
n.1029+3198A=
c.1868T= (p.Ile623=)
c.1511T= (p.Ile504=)
n.2569T=
2g.166280445A>CCA349079618SCN1A-AS1,SCN9Ac.2255T>G (p.Ile752Ser)
c.2222T>G (p.Ile741Ser)
c.1257T>G
n.1029+3198A>C
c.1868T>G (p.Ile623Ser)
c.1511T>G (p.Ile504Ser)
n.2569T>G
2g.166280445A>GCA349079619SCN1A-AS1,SCN9Ac.2255T>C (p.Ile752Thr)
c.2222T>C (p.Ile741Thr)
c.1257T>C
n.1029+3198A>G
c.1868T>C (p.Ile623Thr)
c.1511T>C (p.Ile504Thr)
n.2569T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280445A>TCA349079620SCN1A-AS1,SCN9Ac.2255T>A (p.Ile752Asn)
c.2222T>A (p.Ile741Asn)
c.1257T>A
n.1029+3198A>T
c.1868T>A (p.Ile623Asn)
c.1511T>A (p.Ile504Asn)
n.2569T>A
 gnomAD v4
2g.166280446T>ACA349079621SCN1A-AS1,SCN9Ac.2254A>T (p.Ile752Phe)
c.2221A>T (p.Ile741Phe)
c.1256A>T
n.1029+3199T>A
c.1867A>T (p.Ile623Phe)
c.1510A>T (p.Ile504Phe)
n.2568A>T
 dbSNP
2g.166280446T>CCA349079623SCN1A-AS1,SCN9Ac.2254A>G (p.Ile752Val)
c.2221A>G (p.Ile741Val)
c.1256A>G
n.1029+3199T>C
c.1867A>G (p.Ile623Val)
c.1510A>G (p.Ile504Val)
n.2568A>G
2g.166280446T>GCA349079622SCN1A-AS1,SCN9Ac.2254A>C (p.Ile752Leu)
c.2221A>C (p.Ile741Leu)
c.1256A>C
n.1029+3199T>G
c.1867A>C (p.Ile623Leu)
c.1510A>C (p.Ile504Leu)
n.2568A>C
2g.166280446T=CA1304965720SCN1A-AS1,SCN9Ac.2254A= (p.Ile752=)
c.2221A= (p.Ile741=)
c.1256A=
n.1029+3199T=
c.1867A= (p.Ile623=)
c.1510A= (p.Ile504=)
n.2568A=
2g.166280447G>ACA59796617SCN1A-AS1,SCN9Ac.2253C>T (p.Thr751=)
c.2220C>T (p.Thr740=)
c.1255C>T
n.1029+3200G>A
c.1866C>T (p.Thr622=)
c.1509C>T (p.Thr503=)
n.2567C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280447G>CCA429902317SCN1A-AS1,SCN9Ac.2253C>G (p.Thr751=)
c.2220C>G (p.Thr740=)
c.1255C>G
n.1029+3200G>C
c.1866C>G (p.Thr622=)
c.1509C>G (p.Thr503=)
n.2567C>G
2g.166280447G=CA1304965724SCN1A-AS1,SCN9Ac.2253C= (p.Thr751=)
c.2220C= (p.Thr740=)
c.1255C=
n.1029+3200G=
c.1866C= (p.Thr622=)
c.1509C= (p.Thr503=)
n.2567C=
2g.166280447G>TCA429902318SCN1A-AS1,SCN9Ac.2253C>A (p.Thr751=)
c.2220C>A (p.Thr740=)
c.1255C>A
n.1029+3200G>T
c.1866C>A (p.Thr622=)
c.1509C>A (p.Thr503=)
n.2567C>A
 gnomAD v4
2g.166280448G>ACA349079624SCN1A-AS1,SCN9Ac.2252C>T (p.Thr751Ile)
c.2219C>T (p.Thr740Ile)
c.1254C>T
n.1029+3201G>A
c.1865C>T (p.Thr622Ile)
c.1508C>T (p.Thr503Ile)
n.2566C>T
 dbSNP gnomAD v3 gnomAD v4
2g.166280448G>CCA349079625SCN1A-AS1,SCN9Ac.2252C>G (p.Thr751Ser)
c.2219C>G (p.Thr740Ser)
c.1254C>G
n.1029+3201G>C
c.1865C>G (p.Thr622Ser)
c.1508C>G (p.Thr503Ser)
n.2566C>G
2g.166280448G=CA1304965725SCN1A-AS1,SCN9Ac.2252C= (p.Thr751=)
c.2219C= (p.Thr740=)
c.1254C=
n.1029+3201G=
c.1865C= (p.Thr622=)
c.1508C= (p.Thr503=)
n.2566C=
2g.166280448G>TCA349079626SCN1A-AS1,SCN9Ac.2252C>A (p.Thr751Asn)
c.2219C>A (p.Thr740Asn)
c.1254C>A
n.1029+3201G>T
c.1865C>A (p.Thr622Asn)
c.1508C>A (p.Thr503Asn)
n.2566C>A
2g.166280449T>ACA349079627SCN1A-AS1,SCN9Ac.2251A>T (p.Thr751Ser)
c.2218A>T (p.Thr740Ser)
c.1253A>T
n.1029+3202T>A
c.1864A>T (p.Thr622Ser)
c.1507A>T (p.Thr503Ser)
n.2565A>T
2g.166280449T>CCA349079628SCN1A-AS1,SCN9Ac.2251A>G (p.Thr751Ala)
c.2218A>G (p.Thr740Ala)
c.1253A>G
n.1029+3202T>C
c.1864A>G (p.Thr622Ala)
c.1507A>G (p.Thr503Ala)
n.2565A>G
2g.166280449T>GCA349079629SCN1A-AS1,SCN9Ac.2251A>C (p.Thr751Pro)
c.2218A>C (p.Thr740Pro)
c.1253A>C
n.1029+3202T>G
c.1864A>C (p.Thr622Pro)
c.1507A>C (p.Thr503Pro)
n.2565A>C
2g.166280450A>CCA349079630SCN1A-AS1,SCN9Ac.2250T>G (p.Ile750Met)
c.2217T>G (p.Ile739Met)
c.1252T>G
n.1029+3203A>C
c.1863T>G (p.Ile621Met)
c.1506T>G (p.Ile502Met)
n.2564T>G
2g.166280450A>GCA429902328SCN1A-AS1,SCN9Ac.2250T>C (p.Ile750=)
c.2217T>C (p.Ile739=)
c.1252T>C
n.1029+3203A>G
c.1863T>C (p.Ile621=)
c.1506T>C (p.Ile502=)
n.2564T>C
2g.166280450A>TCA429902329SCN1A-AS1,SCN9Ac.2250T>A (p.Ile750=)
c.2217T>A (p.Ile739=)
c.1252T>A
n.1029+3203A>T
c.1863T>A (p.Ile621=)
c.1506T>A (p.Ile502=)
n.2564T>A
2g.166280451A>CCA349079631SCN1A-AS1,SCN9Ac.2249T>G (p.Ile750Ser)
c.2216T>G (p.Ile739Ser)
c.1251T>G
n.1029+3204A>C
c.1862T>G (p.Ile621Ser)
c.1505T>G (p.Ile502Ser)
n.2563T>G
2g.166280451A>GCA349079632SCN1A-AS1,SCN9Ac.2249T>C (p.Ile750Thr)
c.2216T>C (p.Ile739Thr)
c.1251T>C
n.1029+3204A>G
c.1862T>C (p.Ile621Thr)
c.1505T>C (p.Ile502Thr)
n.2563T>C
2g.166280451A>TCA349079633SCN1A-AS1,SCN9Ac.2249T>A (p.Ile750Asn)
c.2216T>A (p.Ile739Asn)
c.1251T>A
n.1029+3204A>T
c.1862T>A (p.Ile621Asn)
c.1505T>A (p.Ile502Asn)
n.2563T>A
2g.166280452T>ACA349079634SCN1A-AS1,SCN9Ac.2248A>T (p.Ile750Phe)
c.2215A>T (p.Ile739Phe)
c.1250A>T
n.1029+3205T>A
c.1861A>T (p.Ile621Phe)
c.1504A>T (p.Ile502Phe)
n.2562A>T
2g.166280452T>CCA171007SCN1A-AS1,SCN9Ac.2248A>G (p.Ile750Val)
c.2215A>G (p.Ile739Val)
c.1250A>G
n.1029+3205T>C
c.1861A>G (p.Ile621Val)
c.1504A>G (p.Ile502Val)
n.2562A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280452T>GCA349079635SCN1A-AS1,SCN9Ac.2248A>C (p.Ile750Leu)
c.2215A>C (p.Ile739Leu)
c.1250A>C
n.1029+3205T>G
c.1861A>C (p.Ile621Leu)
c.1504A>C (p.Ile502Leu)
n.2562A>C
2g.166280452T=CA1304965726SCN1A-AS1,SCN9Ac.2248A= (p.Ile750=)
c.2215A= (p.Ile739=)
c.1250A=
n.1029+3205T=
c.1861A= (p.Ile621=)
c.1504A= (p.Ile502=)
n.2562A=
2g.166280453T>ACA429902331SCN1A-AS1,SCN9Ac.2247A>T (p.Ala749=)
c.2214A>T (p.Ala738=)
c.1249A>T
n.1029+3206T>A
c.1860A>T (p.Ala620=)
c.1503A>T (p.Ala501=)
n.2561A>T
 gnomAD v4
2g.166280453T>CCA429902333SCN1A-AS1,SCN9Ac.2247A>G (p.Ala749=)
c.2214A>G (p.Ala738=)
c.1249A>G
n.1029+3206T>C
c.1860A>G (p.Ala620=)
c.1503A>G (p.Ala501=)
n.2561A>G
2g.166280453T>GCA429902336SCN1A-AS1,SCN9Ac.2247A>C (p.Ala749=)
c.2214A>C (p.Ala738=)
c.1249A>C
n.1029+3206T>G
c.1860A>C (p.Ala620=)
c.1503A>C (p.Ala501=)
n.2561A>C
 ClinVar
2g.166280454G>ACA349079636SCN1A-AS1,SCN9Ac.2246C>T (p.Ala749Val)
c.2213C>T (p.Ala738Val)
c.1248C>T
n.1029+3207G>A
c.1859C>T (p.Ala620Val)
c.1502C>T (p.Ala501Val)
n.2560C>T
 ClinVar dbSNP gnomAD v4
2g.166280454G>CCA349079637SCN1A-AS1,SCN9Ac.2246C>G (p.Ala749Gly)
c.2213C>G (p.Ala738Gly)
c.1248C>G
n.1029+3207G>C
c.1859C>G (p.Ala620Gly)
c.1502C>G (p.Ala501Gly)
n.2560C>G
2g.166280454G=CA1304965727SCN1A-AS1,SCN9Ac.2246C= (p.Ala749=)
c.2213C= (p.Ala738=)
c.1248C=
n.1029+3207G=
c.1859C= (p.Ala620=)
c.1502C= (p.Ala501=)
n.2560C=
2g.166280454G>TCA59796624SCN1A-AS1,SCN9Ac.2246C>A (p.Ala749Glu)
c.2213C>A (p.Ala738Glu)
c.1248C>A
n.1029+3207G>T
c.1859C>A (p.Ala620Glu)
c.1502C>A (p.Ala501Glu)
n.2560C>A
 dbSNP

Number of alleles fetched