Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166280559_166280564delCA2701012444SCN1A-AS1,SCN9Ac.2136_2141del (p.Trp713_Trp714del)
c.2103_2108del (p.Trp702_Trp703del)
c.1138_1143del
n.1029+3312_1029+3317del
c.1749_1754del (p.Trp584_Trp585del)
c.1392_1397del (p.Trp465_Trp466del)
n.2450_2455del
 dbSNP
2g.166280562C>ACA349079930SCN1A-AS1,SCN9Ac.2138G>T (p.Trp713Leu)
c.2105G>T (p.Trp702Leu)
c.1140G>T
n.1029+3315C>A
c.1751G>T (p.Trp584Leu)
c.1394G>T (p.Trp465Leu)
n.2452G>T
 gnomAD v4
2g.166280562C>GCA349079933SCN1A-AS1,SCN9Ac.2138G>C (p.Trp713Ser)
c.2105G>C (p.Trp702Ser)
c.1140G>C
n.1029+3315C>G
c.1751G>C (p.Trp584Ser)
c.1394G>C (p.Trp465Ser)
n.2452G>C
2g.166280562C>TCA349079937SCN1A-AS1,SCN9Ac.2138G>A (p.Trp713Ter)
c.2105G>A (p.Trp702Ter)
c.1140G>A
n.1029+3315C>T
c.1751G>A (p.Trp584Ter)
c.1394G>A (p.Trp465Ter)
n.2452G>A
2g.166280563A=CA1304965898SCN1A-AS1,SCN9Ac.2137T= (p.Trp713=)
c.2104T= (p.Trp702=)
c.1139T=
n.1029+3316A=
c.1750T= (p.Trp584=)
c.1393T= (p.Trp465=)
n.2451T=
2g.166280563A>CCA349079943SCN1A-AS1,SCN9Ac.2137T>G (p.Trp713Gly)
c.2104T>G (p.Trp702Gly)
c.1139T>G
n.1029+3316A>C
c.1750T>G (p.Trp584Gly)
c.1393T>G (p.Trp465Gly)
n.2451T>G
2g.166280563A>GCA59796693SCN1A-AS1,SCN9Ac.2137T>C (p.Trp713Arg)
c.2104T>C (p.Trp702Arg)
c.1139T>C
n.1029+3316A>G
c.1750T>C (p.Trp584Arg)
c.1393T>C (p.Trp465Arg)
n.2451T>C
 dbSNP
2g.166280563A>TCA1944322SCN1A-AS1,SCN9Ac.2137T>A (p.Trp713Arg)
c.2104T>A (p.Trp702Arg)
c.1139T>A
n.1029+3316A>T
c.1750T>A (p.Trp584Arg)
c.1393T>A (p.Trp465Arg)
n.2451T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166280564A=CA1304965901SCN1A-AS1,SCN9Ac.2136T= (p.Pro712=)
c.2103T= (p.Pro701=)
c.1138T=
n.1029+3317A=
c.1749T= (p.Pro583=)
c.1392T= (p.Pro464=)
n.2450T=
2g.166280564A>CCA429902652SCN1A-AS1,SCN9Ac.2136T>G (p.Pro712=)
c.2103T>G (p.Pro701=)
c.1138T>G
n.1029+3317A>C
c.1749T>G (p.Pro583=)
c.1392T>G (p.Pro464=)
n.2450T>G
 dbSNP gnomAD v3 gnomAD v4
2g.166280564A>GCA429902653SCN1A-AS1,SCN9Ac.2136T>C (p.Pro712=)
c.2103T>C (p.Pro701=)
c.1138T>C
n.1029+3317A>G
c.1749T>C (p.Pro583=)
c.1392T>C (p.Pro464=)
n.2450T>C
2g.166280564A>TCA429902654SCN1A-AS1,SCN9Ac.2136T>A (p.Pro712=)
c.2103T>A (p.Pro701=)
c.1138T>A
n.1029+3317A>T
c.1749T>A (p.Pro583=)
c.1392T>A (p.Pro464=)
n.2450T>A
 gnomAD v4
2g.166280565G>ACA16603177SCN1A-AS1,SCN9Ac.2135C>T (p.Pro712Leu)
c.2102C>T (p.Pro701Leu)
c.1137C>T
n.1029+3318G>A
c.1748C>T (p.Pro583Leu)
c.1391C>T (p.Pro464Leu)
n.2449C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280565G>CCA59796701SCN1A-AS1,SCN9Ac.2135C>G (p.Pro712Arg)
c.2102C>G (p.Pro701Arg)
c.1137C>G
n.1029+3318G>C
c.1748C>G (p.Pro583Arg)
c.1391C>G (p.Pro464Arg)
n.2449C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166280565G=CA1304965902SCN1A-AS1,SCN9Ac.2135C= (p.Pro712=)
c.2102C= (p.Pro701=)
c.1137C=
n.1029+3318G=
c.1748C= (p.Pro583=)
c.1391C= (p.Pro464=)
n.2449C=
2g.166280565G>TCA59796705SCN1A-AS1,SCN9Ac.2135C>A (p.Pro712His)
c.2102C>A (p.Pro701His)
c.1137C>A
n.1029+3318G>T
c.1748C>A (p.Pro583His)
c.1391C>A (p.Pro464His)
n.2449C>A
 dbSNP gnomAD v4
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

Number of alleles fetched