Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280566_166280570delCA2701012455SCN1A-AS1,SCN9Ac.2130_2134del (p.Pro711LeufsTer?)
c.2097_2101del (p.Pro700LeufsTer?)
c.1132_1136del
n.1029+3319_1029+3323del
c.1743_1747del (p.Pro582LeufsTer?)
c.1386_1390del (p.Pro463LeufsTer?)
n.2444_2448del
 dbSNP
2g.166280570A=CA1304965916SCN1A-AS1,SCN9Ac.2130T= (p.Cys710=)
c.2097T= (p.Cys699=)
c.1132T=
n.1029+3323A=
c.1743T= (p.Cys581=)
c.1386T= (p.Cys462=)
n.2444T=
2g.166280570A>CCA349079984SCN1A-AS1,SCN9Ac.2130T>G (p.Cys710Trp)
c.2097T>G (p.Cys699Trp)
c.1132T>G
n.1029+3323A>C
c.1743T>G (p.Cys581Trp)
c.1386T>G (p.Cys462Trp)
n.2444T>G
 dbSNP gnomAD v2 gnomAD v4
2g.166280570A>GCA429902663SCN1A-AS1,SCN9Ac.2130T>C (p.Cys710=)
c.2097T>C (p.Cys699=)
c.1132T>C
n.1029+3323A>G
c.1743T>C (p.Cys581=)
c.1386T>C (p.Cys462=)
n.2444T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166280570A>TCA349079986SCN1A-AS1,SCN9Ac.2130T>A (p.Cys710Ter)
c.2097T>A (p.Cys699Ter)
c.1132T>A
n.1029+3323A>T
c.1743T>A (p.Cys581Ter)
c.1386T>A (p.Cys462Ter)
n.2444T>A
2g.166280571C>ACA349079990SCN1A-AS1,SCN9Ac.2129G>T (p.Cys710Phe)
c.2096G>T (p.Cys699Phe)
c.1131G>T
n.1029+3324C>A
c.1742G>T (p.Cys581Phe)
c.1385G>T (p.Cys462Phe)
n.2443G>T
 gnomAD v4
2g.166280571C=CA1304965921SCN1A-AS1,SCN9Ac.2129G= (p.Cys710=)
c.2096G= (p.Cys699=)
c.1131G=
n.1029+3324C=
c.1742G= (p.Cys581=)
c.1385G= (p.Cys462=)
n.2443G=
2g.166280571C>GCA349079993SCN1A-AS1,SCN9Ac.2129G>C (p.Cys710Ser)
c.2096G>C (p.Cys699Ser)
c.1131G>C
n.1029+3324C>G
c.1742G>C (p.Cys581Ser)
c.1385G>C (p.Cys462Ser)
n.2443G>C
2g.166280571C>TCA1944324SCN1A-AS1,SCN9Ac.2129G>A (p.Cys710Tyr)
c.2096G>A (p.Cys699Tyr)
c.1131G>A
n.1029+3324C>T
c.1742G>A (p.Cys581Tyr)
c.1385G>A (p.Cys462Tyr)
n.2443G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280572A=CA1304965927SCN1A-AS1,SCN9Ac.2128T= (p.Cys710=)
c.2095T= (p.Cys699=)
c.1130T=
n.1029+3325A=
c.1741T= (p.Cys581=)
c.1384T= (p.Cys462=)
n.2442T=
2g.166280572A>CCA349080000SCN1A-AS1,SCN9Ac.2128T>G (p.Cys710Gly)
c.2095T>G (p.Cys699Gly)
c.1130T>G
n.1029+3325A>C
c.1741T>G (p.Cys581Gly)
c.1384T>G (p.Cys462Gly)
n.2442T>G
2g.166280572A>GCA1944325SCN1A-AS1,SCN9Ac.2128T>C (p.Cys710Arg)
c.2095T>C (p.Cys699Arg)
c.1130T>C
n.1029+3325A>G
c.1741T>C (p.Cys581Arg)
c.1384T>C (p.Cys462Arg)
n.2442T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280572A>TCA349080004SCN1A-AS1,SCN9Ac.2128T>A (p.Cys710Ser)
c.2095T>A (p.Cys699Ser)
c.1130T>A
n.1029+3325A>T
c.1741T>A (p.Cys581Ser)
c.1384T>A (p.Cys462Ser)
n.2442T>A
2g.166280573T>ACA349080013SCN1A-AS1,SCN9Ac.2127A>T (p.Lys709Asn)
c.2094A>T (p.Lys698Asn)
c.1129A>T
n.1029+3326T>A
c.1740A>T (p.Lys580Asn)
c.1383A>T (p.Lys461Asn)
n.2441A>T
2g.166280573T>CCA429902667SCN1A-AS1,SCN9Ac.2127A>G (p.Lys709=)
c.2094A>G (p.Lys698=)
c.1129A>G
n.1029+3326T>C
c.1740A>G (p.Lys580=)
c.1383A>G (p.Lys461=)
n.2441A>G
 gnomAD v4
2g.166280573T>GCA349080009SCN1A-AS1,SCN9Ac.2127A>C (p.Lys709Asn)
c.2094A>C (p.Lys698Asn)
c.1129A>C
n.1029+3326T>G
c.1740A>C (p.Lys580Asn)
c.1383A>C (p.Lys461Asn)
n.2441A>C
2g.166280577_166280578insTTTTTTTTTTTTTTTTTCA2753031963SCN1A-AS1,SCN9Ac.2127_2128insAAAAAAAAAAAAAAAAA (p.Cys710LysfsTer19)
c.2094_2095insAAAAAAAAAAAAAAAAA (p.Cys699LysfsTer19)
c.1129_1130insAAAAAAAAAAAAAAAAA
n.1029+3330_1029+3331insTTTTTTTTTTTTTTTTT
c.1740_1741insAAAAAAAAAAAAAAAAA (p.Cys581LysfsTer19)
c.1383_1384insAAAAAAAAAAAAAAAAA (p.Cys462LysfsTer19)
n.2441_2442insAAAAAAAAAAAAAAAAA
2g.166280577dupCA1304965928SCN1A-AS1,SCN9Ac.2127dup (p.Cys710MetfsTer?)
c.2094dup (p.Cys699MetfsTer?)
c.1129dup
n.1029+3330dup
c.1740dup (p.Cys581MetfsTer?)
c.1383dup (p.Cys462MetfsTer?)
n.2441dup
 dbSNP
2g.166280577delCA2661767714SCN1A-AS1,SCN9Ac.2127del (p.Lys709AsnfsTer14)
c.2094del (p.Lys698AsnfsTer14)
c.1129del
n.1029+3330del
c.1740del (p.Lys580AsnfsTer14)
c.1383del (p.Lys461AsnfsTer14)
n.2441del
 gnomAD v4
2g.166280574T>ACA349080015SCN1A-AS1,SCN9Ac.2126A>T (p.Lys709Ile)
c.2093A>T (p.Lys698Ile)
c.1128A>T
n.1029+3327T>A
c.1739A>T (p.Lys580Ile)
c.1382A>T (p.Lys461Ile)
n.2440A>T
 gnomAD v4
2g.166280574T>CCA1944326SCN1A-AS1,SCN9Ac.2126A>G (p.Lys709Arg)
c.2093A>G (p.Lys698Arg)
c.1128A>G
n.1029+3327T>C
c.1739A>G (p.Lys580Arg)
c.1382A>G (p.Lys461Arg)
n.2440A>G
 dbSNP ExAC gnomAD v2
2g.166280574T>GCA349080019SCN1A-AS1,SCN9Ac.2126A>C (p.Lys709Thr)
c.2093A>C (p.Lys698Thr)
c.1128A>C
n.1029+3327T>G
c.1739A>C (p.Lys580Thr)
c.1382A>C (p.Lys461Thr)
n.2440A>C
2g.166280574T=CA1304965930SCN1A-AS1,SCN9Ac.2126A= (p.Lys709=)
c.2093A= (p.Lys698=)
c.1128A=
n.1029+3327T=
c.1739A= (p.Lys580=)
c.1382A= (p.Lys461=)
n.2440A=
2g.166280575T>ACA349080022SCN1A-AS1,SCN9Ac.2125A>T (p.Lys709Ter)
c.2092A>T (p.Lys698Ter)
c.1127A>T
n.1029+3328T>A
c.1738A>T (p.Lys580Ter)
c.1381A>T (p.Lys461Ter)
n.2439A>T
 dbSNP
2g.166280575T>CCA349080025SCN1A-AS1,SCN9Ac.2125A>G (p.Lys709Glu)
c.2092A>G (p.Lys698Glu)
c.1127A>G
n.1029+3328T>C
c.1738A>G (p.Lys580Glu)
c.1381A>G (p.Lys461Glu)
n.2439A>G
 gnomAD v4
2g.166280575T>GCA349080028SCN1A-AS1,SCN9Ac.2125A>C (p.Lys709Gln)
c.2092A>C (p.Lys698Gln)
c.1127A>C
n.1029+3328T>G
c.1738A>C (p.Lys580Gln)
c.1381A>C (p.Lys461Gln)
n.2439A>C
2g.166280575T=CA1304965933SCN1A-AS1,SCN9Ac.2125A= (p.Lys709=)
c.2092A= (p.Lys698=)
c.1127A=
n.1029+3328T=
c.1738A= (p.Lys580=)
c.1381A= (p.Lys461=)
n.2439A=
2g.166280576T>ACA349080031SCN1A-AS1,SCN9Ac.2124A>T (p.Gln708His)
c.2091A>T (p.Gln697His)
c.1126A>T
n.1029+3329T>A
c.1737A>T (p.Gln579His)
c.1380A>T (p.Gln460His)
n.2438A>T
 gnomAD v4
2g.166280576T>CCA429902669SCN1A-AS1,SCN9Ac.2124A>G (p.Gln708=)
c.2091A>G (p.Gln697=)
c.1126A>G
n.1029+3329T>C
c.1737A>G (p.Gln579=)
c.1380A>G (p.Gln460=)
n.2438A>G
 gnomAD v4
2g.166280576T>GCA349080034SCN1A-AS1,SCN9Ac.2124A>C (p.Gln708His)
c.2091A>C (p.Gln697His)
c.1126A>C
n.1029+3329T>G
c.1737A>C (p.Gln579His)
c.1380A>C (p.Gln460His)
n.2438A>C
2g.166280577T>ACA349080039SCN1A-AS1,SCN9Ac.2123A>T (p.Gln708Leu)
c.2090A>T (p.Gln697Leu)
c.1125A>T
n.1029+3330T>A
c.1736A>T (p.Gln579Leu)
c.1379A>T (p.Gln460Leu)
n.2437A>T
 gnomAD v4
2g.166280577T>CCA349080041SCN1A-AS1,SCN9Ac.2123A>G (p.Gln708Arg)
c.2090A>G (p.Gln697Arg)
c.1125A>G
n.1029+3330T>C
c.1736A>G (p.Gln579Arg)
c.1379A>G (p.Gln460Arg)
n.2437A>G
 gnomAD v4
2g.166280577T>GCA349080044SCN1A-AS1,SCN9Ac.2123A>C (p.Gln708Pro)
c.2090A>C (p.Gln697Pro)
c.1125A>C
n.1029+3330T>G
c.1736A>C (p.Gln579Pro)
c.1379A>C (p.Gln460Pro)
n.2437A>C
2g.166280578G>ACA349080051SCN1A-AS1,SCN9Ac.2122C>T (p.Gln708Ter)
c.2089C>T (p.Gln697Ter)
c.1124C>T
n.1029+3331G>A
c.1735C>T (p.Gln579Ter)
c.1378C>T (p.Gln460Ter)
n.2436C>T
 dbSNP gnomAD v4
2g.166280578G>CCA349080054SCN1A-AS1,SCN9Ac.2122C>G (p.Gln708Glu)
c.2089C>G (p.Gln697Glu)
c.1124C>G
n.1029+3331G>C
c.1735C>G (p.Gln579Glu)
c.1378C>G (p.Gln460Glu)
n.2436C>G
2g.166280578G=CA1304965934SCN1A-AS1,SCN9Ac.2122C= (p.Gln708=)
c.2089C= (p.Gln697=)
c.1124C=
n.1029+3331G=
c.1735C= (p.Gln579=)
c.1378C= (p.Gln460=)
n.2436C=
2g.166280578G>TCA349080048SCN1A-AS1,SCN9Ac.2122C>A (p.Gln708Lys)
c.2089C>A (p.Gln697Lys)
c.1124C>A
n.1029+3331G>T
c.1735C>A (p.Gln579Lys)
c.1378C>A (p.Gln460Lys)
n.2436C>A
 gnomAD v4
2g.166280579T>ACA349080703SCN1A-AS1,SCN9Ac.2121A>T (p.Arg707Ser)
c.2088A>T (p.Arg696Ser)
c.1123A>T
n.1029+3332T>A
c.1734A>T (p.Arg578Ser)
c.1377A>T (p.Arg459Ser)
n.2435A>T
 gnomAD v4
2g.166280579T>CCA429902749SCN1A-AS1,SCN9Ac.2121A>G (p.Arg707=)
c.2088A>G (p.Arg696=)
c.1123A>G
n.1029+3332T>C
c.1734A>G (p.Arg578=)
c.1377A>G (p.Arg459=)
n.2435A>G
2g.166280579T>GCA349080705SCN1A-AS1,SCN9Ac.2121A>C (p.Arg707Ser)
c.2088A>C (p.Arg696Ser)
c.1123A>C
n.1029+3332T>G
c.1734A>C (p.Arg578Ser)
c.1377A>C (p.Arg459Ser)
n.2435A>C
2g.166280580C>ACA349080707SCN1A-AS1,SCN9Ac.2120G>T (p.Arg707Ile)
c.2087G>T (p.Arg696Ile)
c.1122G>T
n.1029+3333C>A
c.1733G>T (p.Arg578Ile)
c.1376G>T (p.Arg459Ile)
n.2434G>T
 gnomAD v4
2g.166280580C>GCA349080708SCN1A-AS1,SCN9Ac.2120G>C (p.Arg707Thr)
c.2087G>C (p.Arg696Thr)
c.1122G>C
n.1029+3333C>G
c.1733G>C (p.Arg578Thr)
c.1376G>C (p.Arg459Thr)
n.2434G>C
 gnomAD v4
2g.166280580C>TCA349080710SCN1A-AS1,SCN9Ac.2120G>A (p.Arg707Lys)
c.2087G>A (p.Arg696Lys)
c.1122G>A
n.1029+3333C>T
c.1733G>A (p.Arg578Lys)
c.1376G>A (p.Arg459Lys)
n.2434G>A
 gnomAD v4
2g.166280581T>ACA349080712SCN1A-AS1,SCN9Ac.2119A>T (p.Arg707Ter)
c.2086A>T (p.Arg696Ter)
c.1121A>T
n.1029+3334T>A
c.1732A>T (p.Arg578Ter)
c.1375A>T (p.Arg459Ter)
n.2433A>T
 dbSNP
2g.166280581T>CCA349080714SCN1A-AS1,SCN9Ac.2119A>G (p.Arg707Gly)
c.2086A>G (p.Arg696Gly)
c.1121A>G
n.1029+3334T>C
c.1732A>G (p.Arg578Gly)
c.1375A>G (p.Arg459Gly)
n.2433A>G
 gnomAD v4
2g.166280581T>GCA429902755SCN1A-AS1,SCN9Ac.2119A>C (p.Arg707=)
c.2086A>C (p.Arg696=)
c.1121A>C
n.1029+3334T>G
c.1732A>C (p.Arg578=)
c.1375A>C (p.Arg459=)
n.2433A>C
2g.166280581T=CA1304965938SCN1A-AS1,SCN9Ac.2119A= (p.Arg707=)
c.2086A= (p.Arg696=)
c.1121A=
n.1029+3334T=
c.1732A= (p.Arg578=)
c.1375A= (p.Arg459=)
n.2433A=
2g.166280582G>ACA429902760SCN1A-AS1,SCN9Ac.2118C>T (p.Ser706=)
c.2085C>T (p.Ser695=)
c.1120C>T
n.1029+3335G>A
c.1731C>T (p.Ser577=)
c.1374C>T (p.Ser458=)
n.2432C>T
 ClinVar gnomAD v4
2g.166280582G>CCA429902758SCN1A-AS1,SCN9Ac.2118C>G (p.Ser706=)
c.2085C>G (p.Ser695=)
c.1120C>G
n.1029+3335G>C
c.1731C>G (p.Ser577=)
c.1374C>G (p.Ser458=)
n.2432C>G
2g.166280582G>TCA429902759SCN1A-AS1,SCN9Ac.2118C>A (p.Ser706=)
c.2085C>A (p.Ser695=)
c.1120C>A
n.1029+3335G>T
c.1731C>A (p.Ser577=)
c.1374C>A (p.Ser458=)
n.2432C>A
 gnomAD v4

Number of alleles fetched