Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280566G>ACA1944323SCN1A-AS1,SCN9Ac.2134C>T (p.Pro712Ser)
c.2101C>T (p.Pro701Ser)
c.1136C>T
n.1029+3319G>A
c.1747C>T (p.Pro583Ser)
c.1390C>T (p.Pro464Ser)
n.2448C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166280566G>CCA349079959SCN1A-AS1,SCN9Ac.2134C>G (p.Pro712Ala)
c.2101C>G (p.Pro701Ala)
c.1136C>G
n.1029+3319G>C
c.1747C>G (p.Pro583Ala)
c.1390C>G (p.Pro464Ala)
n.2448C>G
 gnomAD v4
2g.166280566G=CA1304965905SCN1A-AS1,SCN9Ac.2134C= (p.Pro712=)
c.2101C= (p.Pro701=)
c.1136C=
n.1029+3319G=
c.1747C= (p.Pro583=)
c.1390C= (p.Pro464=)
n.2448C=
2g.166280566G>TCA349079957SCN1A-AS1,SCN9Ac.2134C>A (p.Pro712Thr)
c.2101C>A (p.Pro701Thr)
c.1136C>A
n.1029+3319G>T
c.1747C>A (p.Pro583Thr)
c.1390C>A (p.Pro464Thr)
n.2448C>A
 gnomAD v4
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.166280567T>ACA429902657SCN1A-AS1,SCN9Ac.2133A>T (p.Pro711=)
c.2100A>T (p.Pro700=)
c.1135A>T
n.1029+3320T>A
c.1746A>T (p.Pro582=)
c.1389A>T (p.Pro463=)
n.2447A>T
2g.166280567T>CCA429902659SCN1A-AS1,SCN9Ac.2133A>G (p.Pro711=)
c.2100A>G (p.Pro700=)
c.1135A>G
n.1029+3320T>C
c.1746A>G (p.Pro582=)
c.1389A>G (p.Pro463=)
n.2447A>G
2g.166280567T>GCA429902658SCN1A-AS1,SCN9Ac.2133A>C (p.Pro711=)
c.2100A>C (p.Pro700=)
c.1135A>C
n.1029+3320T>G
c.1746A>C (p.Pro582=)
c.1389A>C (p.Pro463=)
n.2447A>C
 ClinVar dbSNP gnomAD v4
2g.166280567T=CA1304965909SCN1A-AS1,SCN9Ac.2133A= (p.Pro711=)
c.2100A= (p.Pro700=)
c.1135A=
n.1029+3320T=
c.1746A= (p.Pro582=)
c.1389A= (p.Pro463=)
n.2447A=
2g.166280568G>ACA349079962SCN1A-AS1,SCN9Ac.2132C>T (p.Pro711Leu)
c.2099C>T (p.Pro700Leu)
c.1134C>T
n.1029+3321G>A
c.1745C>T (p.Pro582Leu)
c.1388C>T (p.Pro463Leu)
n.2446C>T
2g.166280568G>CCA349079969SCN1A-AS1,SCN9Ac.2132C>G (p.Pro711Arg)
c.2099C>G (p.Pro700Arg)
c.1134C>G
n.1029+3321G>C
c.1745C>G (p.Pro582Arg)
c.1388C>G (p.Pro463Arg)
n.2446C>G
2g.166280568G>TCA349079965SCN1A-AS1,SCN9Ac.2132C>A (p.Pro711Gln)
c.2099C>A (p.Pro700Gln)
c.1134C>A
n.1029+3321G>T
c.1745C>A (p.Pro582Gln)
c.1388C>A (p.Pro463Gln)
n.2446C>A
 gnomAD v4
2g.166280569G>ACA349079972SCN1A-AS1,SCN9Ac.2131C>T (p.Pro711Ser)
c.2098C>T (p.Pro700Ser)
c.1133C>T
n.1029+3322G>A
c.1744C>T (p.Pro582Ser)
c.1387C>T (p.Pro463Ser)
n.2445C>T
 gnomAD v4
2g.166280569G>CCA349079978SCN1A-AS1,SCN9Ac.2131C>G (p.Pro711Ala)
c.2098C>G (p.Pro700Ala)
c.1133C>G
n.1029+3322G>C
c.1744C>G (p.Pro582Ala)
c.1387C>G (p.Pro463Ala)
n.2445C>G
 dbSNP
2g.166280569G=CA1304965913SCN1A-AS1,SCN9Ac.2131C= (p.Pro711=)
c.2098C= (p.Pro700=)
c.1133C=
n.1029+3322G=
c.1744C= (p.Pro582=)
c.1387C= (p.Pro463=)
n.2445C=
2g.166280569G>TCA349079982SCN1A-AS1,SCN9Ac.2131C>A (p.Pro711Thr)
c.2098C>A (p.Pro700Thr)
c.1133C>A
n.1029+3322G>T
c.1744C>A (p.Pro582Thr)
c.1387C>A (p.Pro463Thr)
n.2445C>A
 gnomAD v4
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

Number of alleles fetched