Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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

Number of alleles fetched