Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277030T>ACA349077105SCN1A-AS1,SCN9Ac.2827A>T (p.Met943Leu)
c.2794A>T (p.Met932Leu)
c.484A>T (p.Met162Leu)
c.1829A>T
n.870-58T>A
c.2440A>T (p.Met814Leu)
c.2083A>T (p.Met695Leu)
n.3141A>T
2g.166277030T>CCA349077108SCN1A-AS1,SCN9Ac.2827A>G (p.Met943Val)
c.2794A>G (p.Met932Val)
c.484A>G (p.Met162Val)
c.1829A>G
n.870-58T>C
c.2440A>G (p.Met814Val)
c.2083A>G (p.Met695Val)
n.3141A>G
 gnomAD v4
2g.166277030T>GCA147603SCN1A-AS1,SCN9Ac.2827A>C (p.Met943Leu)
c.2794A>C (p.Met932Leu)
c.484A>C (p.Met162Leu)
c.1829A>C
n.870-58T>G
c.2440A>C (p.Met814Leu)
c.2083A>C (p.Met695Leu)
n.3141A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277030T=CA1304964672SCN1A-AS1,SCN9Ac.2827A= (p.Met943=)
c.2794A= (p.Met932=)
c.484A= (p.Met162=)
c.1829A=
n.870-58T=
c.2440A= (p.Met814=)
c.2083A= (p.Met695=)
n.3141A=
2g.166277031A>CCA429977986SCN1A-AS1,SCN9Ac.2826T>G (p.Ala942=)
c.2793T>G (p.Ala931=)
c.483T>G (p.Ala161=)
c.1828T>G
n.870-57A>C
c.2439T>G (p.Ala813=)
c.2082T>G (p.Ala694=)
n.3140T>G
2g.166277031A>GCA429977987SCN1A-AS1,SCN9Ac.2826T>C (p.Ala942=)
c.2793T>C (p.Ala931=)
c.483T>C (p.Ala161=)
c.1828T>C
n.870-57A>G
c.2439T>C (p.Ala813=)
c.2082T>C (p.Ala694=)
n.3140T>C
2g.166277031A>TCA429977988SCN1A-AS1,SCN9Ac.2826T>A (p.Ala942=)
c.2793T>A (p.Ala931=)
c.483T>A (p.Ala161=)
c.1828T>A
n.870-57A>T
c.2439T>A (p.Ala813=)
c.2082T>A (p.Ala694=)
n.3140T>A
2g.166277032G>ACA349077115SCN1A-AS1,SCN9Ac.2825C>T (p.Ala942Val)
c.2792C>T (p.Ala931Val)
c.482C>T (p.Ala161Val)
c.1827C>T
n.870-56G>A
c.2438C>T (p.Ala813Val)
c.2081C>T (p.Ala694Val)
n.3139C>T
2g.166277032G>CCA349077117SCN1A-AS1,SCN9Ac.2825C>G (p.Ala942Gly)
c.2792C>G (p.Ala931Gly)
c.482C>G (p.Ala161Gly)
c.1827C>G
n.870-56G>C
c.2438C>G (p.Ala813Gly)
c.2081C>G (p.Ala694Gly)
n.3139C>G
2g.166277032G>TCA349077120SCN1A-AS1,SCN9Ac.2825C>A (p.Ala942Asp)
c.2792C>A (p.Ala931Asp)
c.482C>A (p.Ala161Asp)
c.1827C>A
n.870-56G>T
c.2438C>A (p.Ala813Asp)
c.2081C>A (p.Ala694Asp)
n.3139C>A
2g.166277033C>ACA349077123SCN1A-AS1,SCN9Ac.2824G>T (p.Ala942Ser)
c.2791G>T (p.Ala931Ser)
c.481G>T (p.Ala161Ser)
c.1826G>T
n.870-55C>A
c.2437G>T (p.Ala813Ser)
c.2080G>T (p.Ala694Ser)
n.3138G>T
 gnomAD v4
2g.166277033C=CA1304964692SCN1A-AS1,SCN9Ac.2824G= (p.Ala942=)
c.2791G= (p.Ala931=)
c.481G= (p.Ala161=)
c.1826G=
n.870-55C=
c.2437G= (p.Ala813=)
c.2080G= (p.Ala694=)
n.3138G=
2g.166277033C>GCA349077126SCN1A-AS1,SCN9Ac.2824G>C (p.Ala942Pro)
c.2791G>C (p.Ala931Pro)
c.481G>C (p.Ala161Pro)
c.1826G>C
n.870-55C>G
c.2437G>C (p.Ala813Pro)
c.2080G>C (p.Ala694Pro)
n.3138G>C
2g.166277033C>TCA1944199SCN1A-AS1,SCN9Ac.2824G>A (p.Ala942Thr)
c.2791G>A (p.Ala931Thr)
c.481G>A (p.Ala161Thr)
c.1826G>A
n.870-55C>T
c.2437G>A (p.Ala813Thr)
c.2080G>A (p.Ala694Thr)
n.3138G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277034T>ACA349077134SCN1A-AS1,SCN9Ac.2823A>T (p.Gln941His)
c.2790A>T (p.Gln930His)
c.480A>T (p.Gln160His)
c.1825A>T
n.870-54T>A
c.2436A>T (p.Gln812His)
c.2079A>T (p.Gln693His)
n.3137A>T
 ClinVar dbSNP gnomAD v4
2g.166277034T>CCA429977992SCN1A-AS1,SCN9Ac.2823A>G (p.Gln941=)
c.2790A>G (p.Gln930=)
c.480A>G (p.Gln160=)
c.1825A>G
n.870-54T>C
c.2436A>G (p.Gln812=)
c.2079A>G (p.Gln693=)
n.3137A>G
2g.166277034T>GCA349077139SCN1A-AS1,SCN9Ac.2823A>C (p.Gln941His)
c.2790A>C (p.Gln930His)
c.480A>C (p.Gln160His)
c.1825A>C
n.870-54T>G
c.2436A>C (p.Gln812His)
c.2079A>C (p.Gln693His)
n.3137A>C
2g.166277035T>ACA349077149SCN1A-AS1,SCN9Ac.2822A>T (p.Gln941Leu)
c.2789A>T (p.Gln930Leu)
c.479A>T (p.Gln160Leu)
c.1824A>T
n.870-53T>A
c.2435A>T (p.Gln812Leu)
c.2078A>T (p.Gln693Leu)
n.3136A>T
 COSMIC COSMIC
2g.166277035T>CCA349077144SCN1A-AS1,SCN9Ac.2822A>G (p.Gln941Arg)
c.2789A>G (p.Gln930Arg)
c.479A>G (p.Gln160Arg)
c.1824A>G
n.870-53T>C
c.2435A>G (p.Gln812Arg)
c.2078A>G (p.Gln693Arg)
n.3136A>G
2g.166277035T>GCA349077146SCN1A-AS1,SCN9Ac.2822A>C (p.Gln941Pro)
c.2789A>C (p.Gln930Pro)
c.479A>C (p.Gln160Pro)
c.1824A>C
n.870-53T>G
c.2435A>C (p.Gln812Pro)
c.2078A>C (p.Gln693Pro)
n.3136A>C
2g.166277036G>ACA349077155SCN1A-AS1,SCN9Ac.2821C>T (p.Gln941Ter)
c.2788C>T (p.Gln930Ter)
c.478C>T (p.Gln160Ter)
c.1823C>T
n.870-52G>A
c.2434C>T (p.Gln812Ter)
c.2077C>T (p.Gln693Ter)
n.3135C>T
 dbSNP
2g.166277036G>CCA349077157SCN1A-AS1,SCN9Ac.2821C>G (p.Gln941Glu)
c.2788C>G (p.Gln930Glu)
c.478C>G (p.Gln160Glu)
c.1823C>G
n.870-52G>C
c.2434C>G (p.Gln812Glu)
c.2077C>G (p.Gln693Glu)
n.3135C>G
2g.166277036G=CA1304964715SCN1A-AS1,SCN9Ac.2821C= (p.Gln941=)
c.2788C= (p.Gln930=)
c.478C= (p.Gln160=)
c.1823C=
n.870-52G=
c.2434C= (p.Gln812=)
c.2077C= (p.Gln693=)
n.3135C=
2g.166277036G>TCA349077161SCN1A-AS1,SCN9Ac.2821C>A (p.Gln941Lys)
c.2788C>A (p.Gln930Lys)
c.478C>A (p.Gln160Lys)
c.1823C>A
n.870-52G>T
c.2434C>A (p.Gln812Lys)
c.2077C>A (p.Gln693Lys)
n.3135C>A
2g.166277037A>CCA429978000SCN1A-AS1,SCN9Ac.2820T>G (p.Gly940=)
c.2787T>G (p.Gly929=)
c.477T>G (p.Gly159=)
c.1822T>G
n.870-51A>C
c.2433T>G (p.Gly811=)
c.2076T>G (p.Gly692=)
n.3134T>G
2g.166277037A>GCA429977995SCN1A-AS1,SCN9Ac.2820T>C (p.Gly940=)
c.2787T>C (p.Gly929=)
c.477T>C (p.Gly159=)
c.1822T>C
n.870-51A>G
c.2433T>C (p.Gly811=)
c.2076T>C (p.Gly692=)
n.3134T>C
2g.166277037A>TCA429977997SCN1A-AS1,SCN9Ac.2820T>A (p.Gly940=)
c.2787T>A (p.Gly929=)
c.477T>A (p.Gly159=)
c.1822T>A
n.870-51A>T
c.2433T>A (p.Gly811=)
c.2076T>A (p.Gly692=)
n.3134T>A
2g.166277038C>ACA349077166SCN1A-AS1,SCN9Ac.2819G>T (p.Gly940Val)
c.2786G>T (p.Gly929Val)
c.476G>T (p.Gly159Val)
c.1821G>T
n.870-50C>A
c.2432G>T (p.Gly811Val)
c.2075G>T (p.Gly692Val)
n.3133G>T
2g.166277038C>GCA349077168SCN1A-AS1,SCN9Ac.2819G>C (p.Gly940Ala)
c.2786G>C (p.Gly929Ala)
c.476G>C (p.Gly159Ala)
c.1821G>C
n.870-50C>G
c.2432G>C (p.Gly811Ala)
c.2075G>C (p.Gly692Ala)
n.3133G>C
2g.166277038C>TCA349077170SCN1A-AS1,SCN9Ac.2819G>A (p.Gly940Asp)
c.2786G>A (p.Gly929Asp)
c.476G>A (p.Gly159Asp)
c.1821G>A
n.870-50C>T
c.2432G>A (p.Gly811Asp)
c.2075G>A (p.Gly692Asp)
n.3133G>A
2g.166277039C>ACA349077173SCN1A-AS1,SCN9Ac.2818G>T (p.Gly940Cys)
c.2785G>T (p.Gly929Cys)
c.475G>T (p.Gly159Cys)
c.1820G>T
n.870-49C>A
c.2431G>T (p.Gly811Cys)
c.2074G>T (p.Gly692Cys)
n.3132G>T
2g.166277039C=CA1304964719SCN1A-AS1,SCN9Ac.2818G= (p.Gly940=)
c.2785G= (p.Gly929=)
c.475G= (p.Gly159=)
c.1820G=
n.870-49C=
c.2431G= (p.Gly811=)
c.2074G= (p.Gly692=)
n.3132G=
2g.166277039C>GCA349077176SCN1A-AS1,SCN9Ac.2818G>C (p.Gly940Arg)
c.2785G>C (p.Gly929Arg)
c.475G>C (p.Gly159Arg)
c.1820G>C
n.870-49C>G
c.2431G>C (p.Gly811Arg)
c.2074G>C (p.Gly692Arg)
n.3132G>C
 ClinVar dbSNP gnomAD v4
2g.166277039C>TCA349077178SCN1A-AS1,SCN9Ac.2818G>A (p.Gly940Ser)
c.2785G>A (p.Gly929Ser)
c.475G>A (p.Gly159Ser)
c.1820G>A
n.870-49C>T
c.2431G>A (p.Gly811Ser)
c.2074G>A (p.Gly692Ser)
n.3132G>A
2g.166277040A>CCA429978003SCN1A-AS1,SCN9Ac.2817T>G (p.Ala939=)
c.2784T>G (p.Ala928=)
c.474T>G (p.Ala158=)
c.1819T>G
n.870-48A>C
c.2430T>G (p.Ala810=)
c.2073T>G (p.Ala691=)
n.3131T>G
2g.166277040A>GCA429978007SCN1A-AS1,SCN9Ac.2817T>C (p.Ala939=)
c.2784T>C (p.Ala928=)
c.474T>C (p.Ala158=)
c.1819T>C
n.870-48A>G
c.2430T>C (p.Ala810=)
c.2073T>C (p.Ala691=)
n.3131T>C
2g.166277040A>TCA429978004SCN1A-AS1,SCN9Ac.2817T>A (p.Ala939=)
c.2784T>A (p.Ala928=)
c.474T>A (p.Ala158=)
c.1819T>A
n.870-48A>T
c.2430T>A (p.Ala810=)
c.2073T>A (p.Ala691=)
n.3131T>A
2g.166277041G>ACA349077184SCN1A-AS1,SCN9Ac.2816C>T (p.Ala939Val)
c.2783C>T (p.Ala928Val)
c.473C>T (p.Ala158Val)
c.1818C>T
n.870-47G>A
c.2429C>T (p.Ala810Val)
c.2072C>T (p.Ala691Val)
n.3130C>T
 ClinVar dbSNP
2g.166277041G>CCA349077187SCN1A-AS1,SCN9Ac.2816C>G (p.Ala939Gly)
c.2783C>G (p.Ala928Gly)
c.473C>G (p.Ala158Gly)
c.1818C>G
n.870-47G>C
c.2429C>G (p.Ala810Gly)
c.2072C>G (p.Ala691Gly)
n.3130C>G
2g.166277041G=CA1304964726SCN1A-AS1,SCN9Ac.2816C= (p.Ala939=)
c.2783C= (p.Ala928=)
c.473C= (p.Ala158=)
c.1818C=
n.870-47G=
c.2429C= (p.Ala810=)
c.2072C= (p.Ala691=)
n.3130C=
2g.166277041G>TCA349077188SCN1A-AS1,SCN9Ac.2816C>A (p.Ala939Asp)
c.2783C>A (p.Ala928Asp)
c.473C>A (p.Ala158Asp)
c.1818C>A
n.870-47G>T
c.2429C>A (p.Ala810Asp)
c.2072C>A (p.Ala691Asp)
n.3130C>A
2g.166277042C>ACA349077200SCN1A-AS1,SCN9Ac.2815G>T (p.Ala939Ser)
c.2782G>T (p.Ala928Ser)
c.472G>T (p.Ala158Ser)
c.1817G>T
n.870-46C>A
c.2428G>T (p.Ala810Ser)
c.2071G>T (p.Ala691Ser)
n.3129G>T
 ClinVar dbSNP
2g.166277042C=CA1304964737SCN1A-AS1,SCN9Ac.2815G= (p.Ala939=)
c.2782G= (p.Ala928=)
c.472G= (p.Ala158=)
c.1817G=
n.870-46C=
c.2428G= (p.Ala810=)
c.2071G= (p.Ala691=)
n.3129G=
2g.166277042C>GCA349077197SCN1A-AS1,SCN9Ac.2815G>C (p.Ala939Pro)
c.2782G>C (p.Ala928Pro)
c.472G>C (p.Ala158Pro)
c.1817G>C
n.870-46C>G
c.2428G>C (p.Ala810Pro)
c.2071G>C (p.Ala691Pro)
n.3129G>C
2g.166277042C>TCA16617322SCN1A-AS1,SCN9Ac.2815G>A (p.Ala939Thr)
c.2782G>A (p.Ala928Thr)
c.472G>A (p.Ala158Thr)
c.1817G>A
n.870-46C>T
c.2428G>A (p.Ala810Thr)
c.2071G>A (p.Ala691Thr)
n.3129G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277043G>ACA59794494SCN1A-AS1,SCN9Ac.2814C>T (p.Val938=)
c.2781C>T (p.Val927=)
c.471C>T (p.Val157=)
c.1816C>T
n.870-45G>A
c.2427C>T (p.Val809=)
c.2070C>T (p.Val690=)
n.3128C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277043G>CCA429978016SCN1A-AS1,SCN9Ac.2814C>G (p.Val938=)
c.2781C>G (p.Val927=)
c.471C>G (p.Val157=)
c.1816C>G
n.870-45G>C
c.2427C>G (p.Val809=)
c.2070C>G (p.Val690=)
n.3128C>G
2g.166277043G=CA1304964739SCN1A-AS1,SCN9Ac.2814C= (p.Val938=)
c.2781C= (p.Val927=)
c.471C= (p.Val157=)
c.1816C=
n.870-45G=
c.2427C= (p.Val809=)
c.2070C= (p.Val690=)
n.3128C=
2g.166277043G>TCA429978018SCN1A-AS1,SCN9Ac.2814C>A (p.Val938=)
c.2781C>A (p.Val927=)
c.471C>A (p.Val157=)
c.1816C>A
n.870-45G>T
c.2427C>A (p.Val809=)
c.2070C>A (p.Val690=)
n.3128C>A
2g.166277044A>CCA349077205SCN1A-AS1,SCN9Ac.2813T>G (p.Val938Gly)
c.2780T>G (p.Val927Gly)
c.470T>G (p.Val157Gly)
c.1815T>G
n.870-44A>C
c.2426T>G (p.Val809Gly)
c.2069T>G (p.Val690Gly)
n.3127T>G

Number of alleles fetched