Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
2g.166277044A>GCA349077207SCN1A-AS1,SCN9Ac.2813T>C (p.Val938Ala)
c.2780T>C (p.Val927Ala)
c.470T>C (p.Val157Ala)
c.1815T>C
n.870-44A>G
c.2426T>C (p.Val809Ala)
c.2069T>C (p.Val690Ala)
n.3127T>C
2g.166277044A>TCA349077211SCN1A-AS1,SCN9Ac.2813T>A (p.Val938Asp)
c.2780T>A (p.Val927Asp)
c.470T>A (p.Val157Asp)
c.1815T>A
n.870-44A>T
c.2426T>A (p.Val809Asp)
c.2069T>A (p.Val690Asp)
n.3127T>A
2g.166277045C>ACA349077217SCN1A-AS1,SCN9Ac.2812G>T (p.Val938Phe)
c.2779G>T (p.Val927Phe)
c.469G>T (p.Val157Phe)
c.1814G>T
n.870-43C>A
c.2425G>T (p.Val809Phe)
c.2068G>T (p.Val690Phe)
n.3126G>T
2g.166277045C>GCA349077220SCN1A-AS1,SCN9Ac.2812G>C (p.Val938Leu)
c.2779G>C (p.Val927Leu)
c.469G>C (p.Val157Leu)
c.1814G>C
n.870-43C>G
c.2425G>C (p.Val809Leu)
c.2068G>C (p.Val690Leu)
n.3126G>C
2g.166277045C>TCA349077223SCN1A-AS1,SCN9Ac.2812G>A (p.Val938Ile)
c.2779G>A (p.Val927Ile)
c.469G>A (p.Val157Ile)
c.1814G>A
n.870-43C>T
c.2425G>A (p.Val809Ile)
c.2068G>A (p.Val690Ile)
n.3126G>A
2g.166277046C>ACA349077230SCN1A-AS1,SCN9Ac.2811G>T (p.Glu937Asp)
c.2778G>T (p.Glu926Asp)
c.468G>T (p.Glu156Asp)
c.1813G>T
n.870-42C>A
c.2424G>T (p.Glu808Asp)
c.2067G>T (p.Glu689Asp)
n.3125G>T
2g.166277046C=CA1304964741SCN1A-AS1,SCN9Ac.2811G= (p.Glu937=)
c.2778G= (p.Glu926=)
c.468G= (p.Glu156=)
c.1813G=
n.870-42C=
c.2424G= (p.Glu808=)
c.2067G= (p.Glu689=)
n.3125G=
2g.166277046C>GCA349077227SCN1A-AS1,SCN9Ac.2811G>C (p.Glu937Asp)
c.2778G>C (p.Glu926Asp)
c.468G>C (p.Glu156Asp)
c.1813G>C
n.870-42C>G
c.2424G>C (p.Glu808Asp)
c.2067G>C (p.Glu689Asp)
n.3125G>C
2g.166277046C>TCA429978022SCN1A-AS1,SCN9Ac.2811G>A (p.Glu937=)
c.2778G>A (p.Glu926=)
c.468G>A (p.Glu156=)
c.1813G>A
n.870-42C>T
c.2424G>A (p.Glu808=)
c.2067G>A (p.Glu689=)
n.3125G>A
 dbSNP
2g.166277047T>ACA1944200SCN1A-AS1,SCN9Ac.2810A>T (p.Glu937Val)
c.2777A>T (p.Glu926Val)
c.467A>T (p.Glu156Val)
c.1812A>T
n.870-41T>A
c.2423A>T (p.Glu808Val)
c.2066A>T (p.Glu689Val)
n.3124A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277047T>CCA349077236SCN1A-AS1,SCN9Ac.2810A>G (p.Glu937Gly)
c.2777A>G (p.Glu926Gly)
c.467A>G (p.Glu156Gly)
c.1812A>G
n.870-41T>C
c.2423A>G (p.Glu808Gly)
c.2066A>G (p.Glu689Gly)
n.3124A>G
2g.166277047T>GCA349077242SCN1A-AS1,SCN9Ac.2810A>C (p.Glu937Ala)
c.2777A>C (p.Glu926Ala)
c.467A>C (p.Glu156Ala)
c.1812A>C
n.870-41T>G
c.2423A>C (p.Glu808Ala)
c.2066A>C (p.Glu689Ala)
n.3124A>C
2g.166277047T=CA1304964748SCN1A-AS1,SCN9Ac.2810A= (p.Glu937=)
c.2777A= (p.Glu926=)
c.467A= (p.Glu156=)
c.1812A=
n.870-41T=
c.2423A= (p.Glu808=)
c.2066A= (p.Glu689=)
n.3124A=
2g.166277048C>ACA349077248SCN1A-AS1,SCN9Ac.2809G>T (p.Glu937Ter)
c.2776G>T (p.Glu926Ter)
c.466G>T (p.Glu156Ter)
c.1811G>T
n.870-40C>A
c.2422G>T (p.Glu808Ter)
c.2065G>T (p.Glu689Ter)
n.3123G>T
 dbSNP
2g.166277048C=CA1304964751SCN1A-AS1,SCN9Ac.2809G= (p.Glu937=)
c.2776G= (p.Glu926=)
c.466G= (p.Glu156=)
c.1811G=
n.870-40C=
c.2422G= (p.Glu808=)
c.2065G= (p.Glu689=)
n.3123G=
2g.166277048C>GCA349077262SCN1A-AS1,SCN9Ac.2809G>C (p.Glu937Gln)
c.2776G>C (p.Glu926Gln)
c.466G>C (p.Glu156Gln)
c.1811G>C
n.870-40C>G
c.2422G>C (p.Glu808Gln)
c.2065G>C (p.Glu689Gln)
n.3123G>C
2g.166277048C>TCA59794502SCN1A-AS1,SCN9Ac.2809G>A (p.Glu937Lys)
c.2776G>A (p.Glu926Lys)
c.466G>A (p.Glu156Lys)
c.1811G>A
n.870-40C>T
c.2422G>A (p.Glu808Lys)
c.2065G>A (p.Glu689Lys)
n.3123G>A
 dbSNP
2g.166277049C>ACA349077271SCN1A-AS1,SCN9Ac.2808G>T (p.Met936Ile)
c.2775G>T (p.Met925Ile)
c.465G>T (p.Met155Ile)
c.1810G>T
n.870-39C>A
c.2421G>T (p.Met807Ile)
c.2064G>T (p.Met688Ile)
n.3122G>T
2g.166277049C>GCA349077276SCN1A-AS1,SCN9Ac.2808G>C (p.Met936Ile)
c.2775G>C (p.Met925Ile)
c.465G>C (p.Met155Ile)
c.1810G>C
n.870-39C>G
c.2421G>C (p.Met807Ile)
c.2064G>C (p.Met688Ile)
n.3122G>C
2g.166277049C>TCA349077274SCN1A-AS1,SCN9Ac.2808G>A (p.Met936Ile)
c.2775G>A (p.Met925Ile)
c.465G>A (p.Met155Ile)
c.1810G>A
n.870-39C>T
c.2421G>A (p.Met807Ile)
c.2064G>A (p.Met688Ile)
n.3122G>A
 gnomAD v4
2g.166277050A>CCA349077281SCN1A-AS1,SCN9Ac.2807T>G (p.Met936Arg)
c.2774T>G (p.Met925Arg)
c.464T>G (p.Met155Arg)
c.1809T>G
n.870-38A>C
c.2420T>G (p.Met807Arg)
c.2063T>G (p.Met688Arg)
n.3121T>G
2g.166277050A>GCA349077283SCN1A-AS1,SCN9Ac.2807T>C (p.Met936Thr)
c.2774T>C (p.Met925Thr)
c.464T>C (p.Met155Thr)
c.1809T>C
n.870-38A>G
c.2420T>C (p.Met807Thr)
c.2063T>C (p.Met688Thr)
n.3121T>C
 ClinVar dbSNP
2g.166277050A>TCA349077287SCN1A-AS1,SCN9Ac.2807T>A (p.Met936Lys)
c.2774T>A (p.Met925Lys)
c.464T>A (p.Met155Lys)
c.1809T>A
n.870-38A>T
c.2420T>A (p.Met807Lys)
c.2063T>A (p.Met688Lys)
n.3121T>A
2g.166277051T>ACA349077291SCN1A-AS1,SCN9Ac.2806A>T (p.Met936Leu)
c.2773A>T (p.Met925Leu)
c.463A>T (p.Met155Leu)
c.1808A>T
n.870-37T>A
c.2419A>T (p.Met807Leu)
c.2062A>T (p.Met688Leu)
n.3120A>T
2g.166277051T>CCA349077294SCN1A-AS1,SCN9Ac.2806A>G (p.Met936Val)
c.2773A>G (p.Met925Val)
c.463A>G (p.Met155Val)
c.1808A>G
n.870-37T>C
c.2419A>G (p.Met807Val)
c.2062A>G (p.Met688Val)
n.3120A>G
 dbSNP gnomAD v2
2g.166277051T>GCA349077296SCN1A-AS1,SCN9Ac.2806A>C (p.Met936Leu)
c.2773A>C (p.Met925Leu)
c.463A>C (p.Met155Leu)
c.1808A>C
n.870-37T>G
c.2419A>C (p.Met807Leu)
c.2062A>C (p.Met688Leu)
n.3120A>C
2g.166277051T=CA1304964754SCN1A-AS1,SCN9Ac.2806A= (p.Met936=)
c.2773A= (p.Met925=)
c.463A= (p.Met155=)
c.1808A=
n.870-37T=
c.2419A= (p.Met807=)
c.2062A= (p.Met688=)
n.3120A=
2g.166277052A=CA1304964758SCN1A-AS1,SCN9Ac.2805T= (p.Cys935=)
c.2772T= (p.Cys924=)
c.462T= (p.Cys154=)
c.1807T=
n.870-36A=
c.2418T= (p.Cys806=)
c.2061T= (p.Cys687=)
n.3119T=
2g.166277052A>CCA349077300SCN1A-AS1,SCN9Ac.2805T>G (p.Cys935Trp)
c.2772T>G (p.Cys924Trp)
c.462T>G (p.Cys154Trp)
c.1807T>G
n.870-36A>C
c.2418T>G (p.Cys806Trp)
c.2061T>G (p.Cys687Trp)
n.3119T>G
2g.166277052A>GCA59794504SCN1A-AS1,SCN9Ac.2805T>C (p.Cys935=)
c.2772T>C (p.Cys924=)
c.462T>C (p.Cys154=)
c.1807T>C
n.870-36A>G
c.2418T>C (p.Cys806=)
c.2061T>C (p.Cys687=)
n.3119T>C
 dbSNP
2g.166277052A>TCA349077304SCN1A-AS1,SCN9Ac.2805T>A (p.Cys935Ter)
c.2772T>A (p.Cys924Ter)
c.462T>A (p.Cys154Ter)
c.1807T>A
n.870-36A>T
c.2418T>A (p.Cys806Ter)
c.2061T>A (p.Cys687Ter)
n.3119T>A
2g.166277053C>ACA349077307SCN1A-AS1,SCN9Ac.2804G>T (p.Cys935Phe)
c.2771G>T (p.Cys924Phe)
c.461G>T (p.Cys154Phe)
c.1806G>T
n.870-35C>A
c.2417G>T (p.Cys806Phe)
c.2060G>T (p.Cys687Phe)
n.3118G>T
2g.166277053C=CA1304964763SCN1A-AS1,SCN9Ac.2804G= (p.Cys935=)
c.2771G= (p.Cys924=)
c.461G= (p.Cys154=)
c.1806G=
n.870-35C=
c.2417G= (p.Cys806=)
c.2060G= (p.Cys687=)
n.3118G=
2g.166277053C>GCA349077311SCN1A-AS1,SCN9Ac.2804G>C (p.Cys935Ser)
c.2771G>C (p.Cys924Ser)
c.461G>C (p.Cys154Ser)
c.1806G>C
n.870-35C>G
c.2417G>C (p.Cys806Ser)
c.2060G>C (p.Cys687Ser)
n.3118G>C
2g.166277053C>TCA59794516SCN1A-AS1,SCN9Ac.2804G>A (p.Cys935Tyr)
c.2771G>A (p.Cys924Tyr)
c.461G>A (p.Cys154Tyr)
c.1806G>A
n.870-35C>T
c.2417G>A (p.Cys806Tyr)
c.2060G>A (p.Cys687Tyr)
n.3118G>A
 dbSNP gnomAD v4
2g.166277054A>CCA349077318SCN1A-AS1,SCN9Ac.2803T>G (p.Cys935Gly)
c.2770T>G (p.Cys924Gly)
c.460T>G (p.Cys154Gly)
c.1805T>G
n.870-34A>C
c.2416T>G (p.Cys806Gly)
c.2059T>G (p.Cys687Gly)
n.3117T>G
2g.166277054A>GCA349077325SCN1A-AS1,SCN9Ac.2803T>C (p.Cys935Arg)
c.2770T>C (p.Cys924Arg)
c.460T>C (p.Cys154Arg)
c.1805T>C
n.870-34A>G
c.2416T>C (p.Cys806Arg)
c.2059T>C (p.Cys687Arg)
n.3117T>C
2g.166277054A>TCA349077322SCN1A-AS1,SCN9Ac.2803T>A (p.Cys935Ser)
c.2770T>A (p.Cys924Ser)
c.460T>A (p.Cys154Ser)
c.1805T>A
n.870-34A>T
c.2416T>A (p.Cys806Ser)
c.2059T>A (p.Cys687Ser)
n.3117T>A
 gnomAD v4
2g.166277055G>ACA429978041SCN1A-AS1,SCN9Ac.2802C>T (p.Asp934=)
c.2769C>T (p.Asp923=)
c.459C>T (p.Asp153=)
c.1804C>T
n.870-33G>A
c.2415C>T (p.Asp805=)
c.2058C>T (p.Asp686=)
n.3116C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166277055G>CCA349077328SCN1A-AS1,SCN9Ac.2802C>G (p.Asp934Glu)
c.2769C>G (p.Asp923Glu)
c.459C>G (p.Asp153Glu)
c.1804C>G
n.870-33G>C
c.2415C>G (p.Asp805Glu)
c.2058C>G (p.Asp686Glu)
n.3116C>G
2g.166277055G=CA1304964767SCN1A-AS1,SCN9Ac.2802C= (p.Asp934=)
c.2769C= (p.Asp923=)
c.459C= (p.Asp153=)
c.1804C=
n.870-33G=
c.2415C= (p.Asp805=)
c.2058C= (p.Asp686=)
n.3116C=
2g.166277055G>TCA349077331SCN1A-AS1,SCN9Ac.2802C>A (p.Asp934Glu)
c.2769C>A (p.Asp923Glu)
c.459C>A (p.Asp153Glu)
c.1804C>A
n.870-33G>T
c.2415C>A (p.Asp805Glu)
c.2058C>A (p.Asp686Glu)
n.3116C>A
2g.166277056T>ACA349077335SCN1A-AS1,SCN9Ac.2801A>T (p.Asp934Val)
c.2768A>T (p.Asp923Val)
c.458A>T (p.Asp153Val)
c.1803A>T
n.870-32T>A
c.2414A>T (p.Asp805Val)
c.2057A>T (p.Asp686Val)
n.3115A>T
2g.166277056T>CCA349077342SCN1A-AS1,SCN9Ac.2801A>G (p.Asp934Gly)
c.2768A>G (p.Asp923Gly)
c.458A>G (p.Asp153Gly)
c.1803A>G
n.870-32T>C
c.2414A>G (p.Asp805Gly)
c.2057A>G (p.Asp686Gly)
n.3115A>G
2g.166277056T>GCA349077338SCN1A-AS1,SCN9Ac.2801A>C (p.Asp934Ala)
c.2768A>C (p.Asp923Ala)
c.458A>C (p.Asp153Ala)
c.1803A>C
n.870-32T>G
c.2414A>C (p.Asp805Ala)
c.2057A>C (p.Asp686Ala)
n.3115A>C
 ClinVar dbSNP
2g.166277056T=CA1304964771SCN1A-AS1,SCN9Ac.2801A= (p.Asp934=)
c.2768A= (p.Asp923=)
c.458A= (p.Asp153=)
c.1803A=
n.870-32T=
c.2414A= (p.Asp805=)
c.2057A= (p.Asp686=)
n.3115A=
2g.166277057C>ACA349077346SCN1A-AS1,SCN9Ac.2800G>T (p.Asp934Tyr)
c.2767G>T (p.Asp923Tyr)
c.457G>T (p.Asp153Tyr)
c.1802G>T
n.870-31C>A
c.2413G>T (p.Asp805Tyr)
c.2056G>T (p.Asp686Tyr)
n.3114G>T
 ClinVar dbSNP
2g.166277057C=CA1304964777SCN1A-AS1,SCN9Ac.2800G= (p.Asp934=)
c.2767G= (p.Asp923=)
c.457G= (p.Asp153=)
c.1802G=
n.870-31C=
c.2413G= (p.Asp805=)
c.2056G= (p.Asp686=)
n.3114G=
2g.166277057C>GCA349077349SCN1A-AS1,SCN9Ac.2800G>C (p.Asp934His)
c.2767G>C (p.Asp923His)
c.457G>C (p.Asp153His)
c.1802G>C
n.870-31C>G
c.2413G>C (p.Asp805His)
c.2056G>C (p.Asp686His)
n.3114G>C
2g.166277057C>TCA1944201SCN1A-AS1,SCN9Ac.2800G>A (p.Asp934Asn)
c.2767G>A (p.Asp923Asn)
c.457G>A (p.Asp153Asn)
c.1802G>A
n.870-31C>T
c.2413G>A (p.Asp805Asn)
c.2056G>A (p.Asp686Asn)
n.3114G>A
 ClinVar dbSNP ExAC gnomAD v2
2g.166277058C>ACA349077352SCN1A-AS1,SCN9Ac.2799G>T (p.Trp933Cys)
c.2766G>T (p.Trp922Cys)
c.456G>T (p.Trp152Cys)
c.1801G>T
n.870-30C>A
c.2412G>T (p.Trp804Cys)
c.2055G>T (p.Trp685Cys)
n.3113G>T
2g.166277058C=CA1304964780SCN1A-AS1,SCN9Ac.2799G= (p.Trp933=)
c.2766G= (p.Trp922=)
c.456G= (p.Trp152=)
c.1801G=
n.870-30C=
c.2412G= (p.Trp804=)
c.2055G= (p.Trp685=)
n.3113G=
2g.166277058C>GCA349077356SCN1A-AS1,SCN9Ac.2799G>C (p.Trp933Cys)
c.2766G>C (p.Trp922Cys)
c.456G>C (p.Trp152Cys)
c.1801G>C
n.870-30C>G
c.2412G>C (p.Trp804Cys)
c.2055G>C (p.Trp685Cys)
n.3113G>C
2g.166277058C>TCA349077354SCN1A-AS1,SCN9Ac.2799G>A (p.Trp933Ter)
c.2766G>A (p.Trp922Ter)
c.456G>A (p.Trp152Ter)
c.1801G>A
n.870-30C>T
c.2412G>A (p.Trp804Ter)
c.2055G>A (p.Trp685Ter)
n.3113G>A
 dbSNP
2g.166277059C>ACA349077358SCN1A-AS1,SCN9Ac.2798G>T (p.Trp933Leu)
c.2765G>T (p.Trp922Leu)
c.455G>T (p.Trp152Leu)
c.1800G>T
n.870-29C>A
c.2411G>T (p.Trp804Leu)
c.2054G>T (p.Trp685Leu)
n.3112G>T
2g.166277059C>GCA349077360SCN1A-AS1,SCN9Ac.2798G>C (p.Trp933Ser)
c.2765G>C (p.Trp922Ser)
c.455G>C (p.Trp152Ser)
c.1800G>C
n.870-29C>G
c.2411G>C (p.Trp804Ser)
c.2054G>C (p.Trp685Ser)
n.3112G>C
2g.166277059C>TCA349077361SCN1A-AS1,SCN9Ac.2798G>A (p.Trp933Ter)
c.2765G>A (p.Trp922Ter)
c.455G>A (p.Trp152Ter)
c.1800G>A
n.870-29C>T
c.2411G>A (p.Trp804Ter)
c.2054G>A (p.Trp685Ter)
n.3112G>A
2g.166277060A>CCA349077363SCN1A-AS1,SCN9Ac.2797T>G (p.Trp933Gly)
c.2764T>G (p.Trp922Gly)
c.454T>G (p.Trp152Gly)
c.1799T>G
n.870-28A>C
c.2410T>G (p.Trp804Gly)
c.2053T>G (p.Trp685Gly)
n.3111T>G
2g.166277060A>GCA349077365SCN1A-AS1,SCN9Ac.2797T>C (p.Trp933Arg)
c.2764T>C (p.Trp922Arg)
c.454T>C (p.Trp152Arg)
c.1799T>C
n.870-28A>G
c.2410T>C (p.Trp804Arg)
c.2053T>C (p.Trp685Arg)
n.3111T>C
2g.166277060A>TCA349077366SCN1A-AS1,SCN9Ac.2797T>A (p.Trp933Arg)
c.2764T>A (p.Trp922Arg)
c.454T>A (p.Trp152Arg)
c.1799T>A
n.870-28A>T
c.2410T>A (p.Trp804Arg)
c.2053T>A (p.Trp685Arg)
n.3111T>A
2g.166277061C>ACA349077368SCN1A-AS1,SCN9Ac.2796G>T (p.Met932Ile)
c.2763G>T (p.Met921Ile)
c.453G>T (p.Met151Ile)
c.1798G>T
n.870-27C>A
c.2409G>T (p.Met803Ile)
c.2052G>T (p.Met684Ile)
n.3110G>T
2g.166277061C>GCA349077369SCN1A-AS1,SCN9Ac.2796G>C (p.Met932Ile)
c.2763G>C (p.Met921Ile)
c.453G>C (p.Met151Ile)
c.1798G>C
n.870-27C>G
c.2409G>C (p.Met803Ile)
c.2052G>C (p.Met684Ile)
n.3110G>C
 ClinVar dbSNP gnomAD v4
2g.166277061C>TCA349077371SCN1A-AS1,SCN9Ac.2796G>A (p.Met932Ile)
c.2763G>A (p.Met921Ile)
c.453G>A (p.Met151Ile)
c.1798G>A
n.870-27C>T
c.2409G>A (p.Met803Ile)
c.2052G>A (p.Met684Ile)
n.3110G>A
2g.166277062A=CA1304964784SCN1A-AS1,SCN9Ac.2795T= (p.Met932=)
c.2762T= (p.Met921=)
c.452T= (p.Met151=)
c.1797T=
n.870-26A=
c.2408T= (p.Met803=)
c.2051T= (p.Met684=)
n.3109T=
2g.166277062A>CCA349077377SCN1A-AS1,SCN9Ac.2795T>G (p.Met932Arg)
c.2762T>G (p.Met921Arg)
c.452T>G (p.Met151Arg)
c.1797T>G
n.870-26A>C
c.2408T>G (p.Met803Arg)
c.2051T>G (p.Met684Arg)
n.3109T>G
2g.166277062A>GCA1944202SCN1A-AS1,SCN9Ac.2795T>C (p.Met932Thr)
c.2762T>C (p.Met921Thr)
c.452T>C (p.Met151Thr)
c.1797T>C
n.870-26A>G
c.2408T>C (p.Met803Thr)
c.2051T>C (p.Met684Thr)
n.3109T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277062A>TCA349077374SCN1A-AS1,SCN9Ac.2795T>A (p.Met932Lys)
c.2762T>A (p.Met921Lys)
c.452T>A (p.Met151Lys)
c.1797T>A
n.870-26A>T
c.2408T>A (p.Met803Lys)
c.2051T>A (p.Met684Lys)
n.3109T>A
2g.166277063T>ACA349077380SCN1A-AS1,SCN9Ac.2794A>T (p.Met932Leu)
c.2761A>T (p.Met921Leu)
c.451A>T (p.Met151Leu)
c.1796A>T
n.870-25T>A
c.2407A>T (p.Met803Leu)
c.2050A>T (p.Met684Leu)
n.3108A>T
2g.166277063T>CCA349077382SCN1A-AS1,SCN9Ac.2794A>G (p.Met932Val)
c.2761A>G (p.Met921Val)
c.451A>G (p.Met151Val)
c.1796A>G
n.870-25T>C
c.2407A>G (p.Met803Val)
c.2050A>G (p.Met684Val)
n.3108A>G
2g.166277063T>GCA349077384SCN1A-AS1,SCN9Ac.2794A>C (p.Met932Leu)
c.2761A>C (p.Met921Leu)
c.451A>C (p.Met151Leu)
c.1796A>C
n.870-25T>G
c.2407A>C (p.Met803Leu)
c.2050A>C (p.Met684Leu)
n.3108A>C
2g.166277064G>ACA429978057SCN1A-AS1,SCN9Ac.2793C>T (p.Thr931=)
c.2760C>T (p.Thr920=)
c.450C>T (p.Thr150=)
c.1795C>T
n.870-24G>A
c.2406C>T (p.Thr802=)
c.2049C>T (p.Thr683=)
n.3107C>T
2g.166277064G>CCA429978059SCN1A-AS1,SCN9Ac.2793C>G (p.Thr931=)
c.2760C>G (p.Thr920=)
c.450C>G (p.Thr150=)
c.1795C>G
n.870-24G>C
c.2406C>G (p.Thr802=)
c.2049C>G (p.Thr683=)
n.3107C>G
2g.166277064G=CA1304964789SCN1A-AS1,SCN9Ac.2793C= (p.Thr931=)
c.2760C= (p.Thr920=)
c.450C= (p.Thr150=)
c.1795C=
n.870-24G=
c.2406C= (p.Thr802=)
c.2049C= (p.Thr683=)
n.3107C=
2g.166277064G>TCA429978063SCN1A-AS1,SCN9Ac.2793C>A (p.Thr931=)
c.2760C>A (p.Thr920=)
c.450C>A (p.Thr150=)
c.1795C>A
n.870-24G>T
c.2406C>A (p.Thr802=)
c.2049C>A (p.Thr683=)
n.3107C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166277065G>ACA349077387SCN1A-AS1,SCN9Ac.2792C>T (p.Thr931Ile)
c.2759C>T (p.Thr920Ile)
c.449C>T (p.Thr150Ile)
c.1794C>T
n.870-23G>A
c.2405C>T (p.Thr802Ile)
c.2048C>T (p.Thr683Ile)
n.3106C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166277065G>CCA349077389SCN1A-AS1,SCN9Ac.2792C>G (p.Thr931Ser)
c.2759C>G (p.Thr920Ser)
c.449C>G (p.Thr150Ser)
c.1794C>G
n.870-23G>C
c.2405C>G (p.Thr802Ser)
c.2048C>G (p.Thr683Ser)
n.3106C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277065G=CA1304964797SCN1A-AS1,SCN9Ac.2792C= (p.Thr931=)
c.2759C= (p.Thr920=)
c.449C= (p.Thr150=)
c.1794C=
n.870-23G=
c.2405C= (p.Thr802=)
c.2048C= (p.Thr683=)
n.3106C=
2g.166277065G>TCA349077391SCN1A-AS1,SCN9Ac.2792C>A (p.Thr931Asn)
c.2759C>A (p.Thr920Asn)
c.449C>A (p.Thr150Asn)
c.1794C>A
n.870-23G>T
c.2405C>A (p.Thr802Asn)
c.2048C>A (p.Thr683Asn)
n.3106C>A
2g.166277066T>ACA349077393SCN1A-AS1,SCN9Ac.2791A>T (p.Thr931Ser)
c.2758A>T (p.Thr920Ser)
c.448A>T (p.Thr150Ser)
c.1793A>T
n.870-22T>A
c.2404A>T (p.Thr802Ser)
c.2047A>T (p.Thr683Ser)
n.3105A>T
2g.166277066T>CCA349077395SCN1A-AS1,SCN9Ac.2791A>G (p.Thr931Ala)
c.2758A>G (p.Thr920Ala)
c.448A>G (p.Thr150Ala)
c.1793A>G
n.870-22T>C
c.2404A>G (p.Thr802Ala)
c.2047A>G (p.Thr683Ala)
n.3105A>G
2g.166277066T>GCA349077398SCN1A-AS1,SCN9Ac.2791A>C (p.Thr931Pro)
c.2758A>C (p.Thr920Pro)
c.448A>C (p.Thr150Pro)
c.1793A>C
n.870-22T>G
c.2404A>C (p.Thr802Pro)
c.2047A>C (p.Thr683Pro)
n.3105A>C
2g.166277067C>ACA349077400SCN1A-AS1,SCN9Ac.2790G>T (p.Glu930Asp)
c.2757G>T (p.Glu919Asp)
c.447G>T (p.Glu149Asp)
c.1792G>T
n.870-21C>A
c.2403G>T (p.Glu801Asp)
c.2046G>T (p.Glu682Asp)
n.3104G>T
2g.166277067C>GCA349077402SCN1A-AS1,SCN9Ac.2790G>C (p.Glu930Asp)
c.2757G>C (p.Glu919Asp)
c.447G>C (p.Glu149Asp)
c.1792G>C
n.870-21C>G
c.2403G>C (p.Glu801Asp)
c.2046G>C (p.Glu682Asp)
n.3104G>C
2g.166277067C>TCA429978073SCN1A-AS1,SCN9Ac.2790G>A (p.Glu930=)
c.2757G>A (p.Glu919=)
c.447G>A (p.Glu149=)
c.1792G>A
n.870-21C>T
c.2403G>A (p.Glu801=)
c.2046G>A (p.Glu682=)
n.3104G>A
2g.166277068T>ACA349077405SCN1A-AS1,SCN9Ac.2789A>T (p.Glu930Val)
c.2756A>T (p.Glu919Val)
c.446A>T (p.Glu149Val)
c.1791A>T
n.870-20T>A
c.2402A>T (p.Glu801Val)
c.2045A>T (p.Glu682Val)
n.3103A>T
2g.166277068T>CCA349077407SCN1A-AS1,SCN9Ac.2789A>G (p.Glu930Gly)
c.2756A>G (p.Glu919Gly)
c.446A>G (p.Glu149Gly)
c.1791A>G
n.870-20T>C
c.2402A>G (p.Glu801Gly)
c.2045A>G (p.Glu682Gly)
n.3103A>G
2g.166277068T>GCA349077404SCN1A-AS1,SCN9Ac.2789A>C (p.Glu930Ala)
c.2756A>C (p.Glu919Ala)
c.446A>C (p.Glu149Ala)
c.1791A>C
n.870-20T>G
c.2402A>C (p.Glu801Ala)
c.2045A>C (p.Glu682Ala)
n.3103A>C
2g.166277069C>ACA349077410SCN1A-AS1,SCN9Ac.2788G>T (p.Glu930Ter)
c.2755G>T (p.Glu919Ter)
c.445G>T (p.Glu149Ter)
c.1790G>T
n.870-19C>A
c.2401G>T (p.Glu801Ter)
c.2044G>T (p.Glu682Ter)
n.3102G>T
 dbSNP gnomAD v4
2g.166277069C=CA1304964806SCN1A-AS1,SCN9Ac.2788G= (p.Glu930=)
c.2755G= (p.Glu919=)
c.445G= (p.Glu149=)
c.1790G=
n.870-19C=
c.2401G= (p.Glu801=)
c.2044G= (p.Glu682=)
n.3102G=
2g.166277069C>GCA349077412SCN1A-AS1,SCN9Ac.2788G>C (p.Glu930Gln)
c.2755G>C (p.Glu919Gln)
c.445G>C (p.Glu149Gln)
c.1790G>C
n.870-19C>G
c.2401G>C (p.Glu801Gln)
c.2044G>C (p.Glu682Gln)
n.3102G>C
2g.166277069C>TCA1944203SCN1A-AS1,SCN9Ac.2788G>A (p.Glu930Lys)
c.2755G>A (p.Glu919Lys)
c.445G>A (p.Glu149Lys)
c.1790G>A
n.870-19C>T
c.2401G>A (p.Glu801Lys)
c.2044G>A (p.Glu682Lys)
n.3102G>A
 dbSNP ExAC gnomAD v2
2g.166277070T>ACA429978078SCN1A-AS1,SCN9Ac.2787A>T (p.Ile929=)
c.2754A>T (p.Ile918=)
c.444A>T (p.Ile148=)
c.1789A>T
n.870-18T>A
c.2400A>T (p.Ile800=)
c.2043A>T (p.Ile681=)
n.3101A>T
2g.166277070T>CCA349077417SCN1A-AS1,SCN9Ac.2787A>G (p.Ile929Met)
c.2754A>G (p.Ile918Met)
c.444A>G (p.Ile148Met)
c.1789A>G
n.870-18T>C
c.2400A>G (p.Ile800Met)
c.2043A>G (p.Ile681Met)
n.3101A>G
 gnomAD v4
2g.166277070T>GCA429978080SCN1A-AS1,SCN9Ac.2787A>C (p.Ile929=)
c.2754A>C (p.Ile918=)
c.444A>C (p.Ile148=)
c.1789A>C
n.870-18T>G
c.2400A>C (p.Ile800=)
c.2043A>C (p.Ile681=)
n.3101A>C
2g.166277071_166277072delCA537657175SCN1A-AS1,SCN9Ac.2786_2787del (p.Ile929ArgfsTer?)
c.2753_2754del (p.Ile918ArgfsTer?)
c.443_444del (p.Ile148ArgfsTer?)
c.1788_1789del
n.870-17_870-16del
c.2399_2400del (p.Ile800ArgfsTer?)
c.2042_2043del (p.Ile681ArgfsTer?)
n.3100_3101del
 gnomAD v2 gnomAD v4
2g.166277071A=CA1304964808SCN1A-AS1,SCN9Ac.2786T= (p.Ile929=)
c.2753T= (p.Ile918=)
c.443T= (p.Ile148=)
c.1788T=
n.870-17A=
c.2399T= (p.Ile800=)
c.2042T= (p.Ile681=)
n.3100T=
2g.166277071A>CCA349077427SCN1A-AS1,SCN9Ac.2786T>G (p.Ile929Arg)
c.2753T>G (p.Ile918Arg)
c.443T>G (p.Ile148Arg)
c.1788T>G
n.870-17A>C
c.2399T>G (p.Ile800Arg)
c.2042T>G (p.Ile681Arg)
n.3100T>G
2g.166277071A>GCA1944204SCN1A-AS1,SCN9Ac.2786T>C (p.Ile929Thr)
c.2753T>C (p.Ile918Thr)
c.443T>C (p.Ile148Thr)
c.1788T>C
n.870-17A>G
c.2399T>C (p.Ile800Thr)
c.2042T>C (p.Ile681Thr)
n.3100T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277071A>TCA349077423SCN1A-AS1,SCN9Ac.2786T>A (p.Ile929Lys)
c.2753T>A (p.Ile918Lys)
c.443T>A (p.Ile148Lys)
c.1788T>A
n.870-17A>T
c.2399T>A (p.Ile800Lys)
c.2042T>A (p.Ile681Lys)
n.3100T>A
2g.166277072T>ACA349077430SCN1A-AS1,SCN9Ac.2785A>T (p.Ile929Leu)
c.2752A>T (p.Ile918Leu)
c.442A>T (p.Ile148Leu)
c.1787A>T
n.870-16T>A
c.2398A>T (p.Ile800Leu)
c.2041A>T (p.Ile681Leu)
n.3099A>T
 dbSNP gnomAD v2 gnomAD v4
2g.166277072T>CCA349077432SCN1A-AS1,SCN9Ac.2785A>G (p.Ile929Val)
c.2752A>G (p.Ile918Val)
c.442A>G (p.Ile148Val)
c.1787A>G
n.870-16T>C
c.2398A>G (p.Ile800Val)
c.2041A>G (p.Ile681Val)
n.3099A>G
2g.166277072T>GCA349077434SCN1A-AS1,SCN9Ac.2785A>C (p.Ile929Leu)
c.2752A>C (p.Ile918Leu)
c.442A>C (p.Ile148Leu)
c.1787A>C
n.870-16T>G
c.2398A>C (p.Ile800Leu)
c.2041A>C (p.Ile681Leu)
n.3099A>C
2g.166277072T=CA1304964812SCN1A-AS1,SCN9Ac.2785A= (p.Ile929=)
c.2752A= (p.Ile918=)
c.442A= (p.Ile148=)
c.1787A=
n.870-16T=
c.2398A= (p.Ile800=)
c.2041A= (p.Ile681=)
n.3099A=
2g.166277077_166277083delCA645519733SCN1A-AS1,SCN9Ac.2779_2785del (p.Glu927Ter)
c.2746_2752del (p.Glu916Ter)
c.436_442del (p.Glu146Ter)
c.1781_1787del
n.870-11_870-5del
c.2392_2398del (p.Glu798Ter)
c.2035_2041del (p.Glu679Ter)
n.3093_3099del
 COSMIC
2g.166277073C>ACA349077435SCN1A-AS1,SCN9Ac.2784G>T (p.Trp928Cys)
c.2751G>T (p.Trp917Cys)
c.441G>T (p.Trp147Cys)
c.1786G>T
n.870-15C>A
c.2397G>T (p.Trp799Cys)
c.2040G>T (p.Trp680Cys)
n.3098G>T
2g.166277073C>GCA349077436SCN1A-AS1,SCN9Ac.2784G>C (p.Trp928Cys)
c.2751G>C (p.Trp917Cys)
c.441G>C (p.Trp147Cys)
c.1786G>C
n.870-15C>G
c.2397G>C (p.Trp799Cys)
c.2040G>C (p.Trp680Cys)
n.3098G>C
 gnomAD v4
2g.166277073C>TCA349077437SCN1A-AS1,SCN9Ac.2784G>A (p.Trp928Ter)
c.2751G>A (p.Trp917Ter)
c.441G>A (p.Trp147Ter)
c.1786G>A
n.870-15C>T
c.2397G>A (p.Trp799Ter)
c.2040G>A (p.Trp680Ter)
n.3098G>A
2g.166277074C>ACA349077438SCN1A-AS1,SCN9Ac.2783G>T (p.Trp928Leu)
c.2750G>T (p.Trp917Leu)
c.440G>T (p.Trp147Leu)
c.1785G>T
n.870-14C>A
c.2396G>T (p.Trp799Leu)
c.2039G>T (p.Trp680Leu)
n.3097G>T
2g.166277074C>GCA349077440SCN1A-AS1,SCN9Ac.2783G>C (p.Trp928Ser)
c.2750G>C (p.Trp917Ser)
c.440G>C (p.Trp147Ser)
c.1785G>C
n.870-14C>G
c.2396G>C (p.Trp799Ser)
c.2039G>C (p.Trp680Ser)
n.3097G>C
2g.166277074C>TCA349077439SCN1A-AS1,SCN9Ac.2783G>A (p.Trp928Ter)
c.2750G>A (p.Trp917Ter)
c.440G>A (p.Trp147Ter)
c.1785G>A
n.870-14C>T
c.2396G>A (p.Trp799Ter)
c.2039G>A (p.Trp680Ter)
n.3097G>A
2g.166277075A>CCA349077441SCN1A-AS1,SCN9Ac.2782T>G (p.Trp928Gly)
c.2749T>G (p.Trp917Gly)
c.439T>G (p.Trp147Gly)
c.1784T>G
n.870-13A>C
c.2395T>G (p.Trp799Gly)
c.2038T>G (p.Trp680Gly)
n.3096T>G
2g.166277075A>GCA349077442SCN1A-AS1,SCN9Ac.2782T>C (p.Trp928Arg)
c.2749T>C (p.Trp917Arg)
c.439T>C (p.Trp147Arg)
c.1784T>C
n.870-13A>G
c.2395T>C (p.Trp799Arg)
c.2038T>C (p.Trp680Arg)
n.3096T>C
 gnomAD v4
2g.166277075A>TCA349077443SCN1A-AS1,SCN9Ac.2782T>A (p.Trp928Arg)
c.2749T>A (p.Trp917Arg)
c.439T>A (p.Trp147Arg)
c.1784T>A
n.870-13A>T
c.2395T>A (p.Trp799Arg)
c.2038T>A (p.Trp680Arg)
n.3096T>A
2g.166277076C>ACA349077446SCN1A-AS1,SCN9Ac.2781G>T (p.Glu927Asp)
c.2748G>T (p.Glu916Asp)
c.438G>T (p.Glu146Asp)
c.1783G>T
n.870-12C>A
c.2394G>T (p.Glu798Asp)
c.2037G>T (p.Glu679Asp)
n.3095G>T
2g.166277076C>GCA349077448SCN1A-AS1,SCN9Ac.2781G>C (p.Glu927Asp)
c.2748G>C (p.Glu916Asp)
c.438G>C (p.Glu146Asp)
c.1783G>C
n.870-12C>G
c.2394G>C (p.Glu798Asp)
c.2037G>C (p.Glu679Asp)
n.3095G>C
2g.166277076C>TCA429978087SCN1A-AS1,SCN9Ac.2781G>A (p.Glu927=)
c.2748G>A (p.Glu916=)
c.438G>A (p.Glu146=)
c.1783G>A
n.870-12C>T
c.2394G>A (p.Glu798=)
c.2037G>A (p.Glu679=)
n.3095G>A
 ClinVar dbSNP
2g.166277077T>ACA349077450SCN1A-AS1,SCN9Ac.2780A>T (p.Glu927Val)
c.2747A>T (p.Glu916Val)
c.437A>T (p.Glu146Val)
c.1782A>T
n.870-11T>A
c.2393A>T (p.Glu798Val)
c.2036A>T (p.Glu679Val)
n.3094A>T
2g.166277077T>CCA349077452SCN1A-AS1,SCN9Ac.2780A>G (p.Glu927Gly)
c.2747A>G (p.Glu916Gly)
c.437A>G (p.Glu146Gly)
c.1782A>G
n.870-11T>C
c.2393A>G (p.Glu798Gly)
c.2036A>G (p.Glu679Gly)
n.3094A>G
2g.166277077T>GCA349077457SCN1A-AS1,SCN9Ac.2780A>C (p.Glu927Ala)
c.2747A>C (p.Glu916Ala)
c.437A>C (p.Glu146Ala)
c.1782A>C
n.870-11T>G
c.2393A>C (p.Glu798Ala)
c.2036A>C (p.Glu679Ala)
n.3094A>C
2g.166277078C>ACA349077458SCN1A-AS1,SCN9Ac.2779G>T (p.Glu927Ter)
c.2746G>T (p.Glu916Ter)
c.436G>T (p.Glu146Ter)
c.1781G>T
n.870-10C>A
c.2392G>T (p.Glu798Ter)
c.2035G>T (p.Glu679Ter)
n.3093G>T
 dbSNP
2g.166277078C=CA1304964820SCN1A-AS1,SCN9Ac.2779G= (p.Glu927=)
c.2746G= (p.Glu916=)
c.436G= (p.Glu146=)
c.1781G=
n.870-10C=
c.2392G= (p.Glu798=)
c.2035G= (p.Glu679=)
n.3093G=
2g.166277078C>GCA349077459SCN1A-AS1,SCN9Ac.2779G>C (p.Glu927Gln)
c.2746G>C (p.Glu916Gln)
c.436G>C (p.Glu146Gln)
c.1781G>C
n.870-10C>G
c.2392G>C (p.Glu798Gln)
c.2035G>C (p.Glu679Gln)
n.3093G>C
2g.166277078C>TCA1944205SCN1A-AS1,SCN9Ac.2779G>A (p.Glu927Lys)
c.2746G>A (p.Glu916Lys)
c.436G>A (p.Glu146Lys)
c.1781G>A
n.870-10C>T
c.2392G>A (p.Glu798Lys)
c.2035G>A (p.Glu679Lys)
n.3093G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277079T>ACA429978096SCN1A-AS1,SCN9Ac.2778A>T (p.Gly926=)
c.2745A>T (p.Gly915=)
c.435A>T (p.Gly145=)
c.1780A>T
n.870-9T>A
c.2391A>T (p.Gly797=)
c.2034A>T (p.Gly678=)
n.3092A>T
2g.166277079T>CCA429978097SCN1A-AS1,SCN9Ac.2778A>G (p.Gly926=)
c.2745A>G (p.Gly915=)
c.435A>G (p.Gly145=)
c.1780A>G
n.870-9T>C
c.2391A>G (p.Gly797=)
c.2034A>G (p.Gly678=)
n.3092A>G
 gnomAD v4
2g.166277079T>GCA429978098SCN1A-AS1,SCN9Ac.2778A>C (p.Gly926=)
c.2745A>C (p.Gly915=)
c.435A>C (p.Gly145=)
c.1780A>C
n.870-9T>G
c.2391A>C (p.Gly797=)
c.2034A>C (p.Gly678=)
n.3092A>C
2g.166277080C>ACA349077467SCN1A-AS1,SCN9Ac.2777G>T (p.Gly926Val)
c.2744G>T (p.Gly915Val)
c.434G>T (p.Gly145Val)
c.1779G>T
n.870-8C>A
c.2390G>T (p.Gly797Val)
c.2033G>T (p.Gly678Val)
n.3091G>T
2g.166277080C>GCA349077465SCN1A-AS1,SCN9Ac.2777G>C (p.Gly926Ala)
c.2744G>C (p.Gly915Ala)
c.434G>C (p.Gly145Ala)
c.1779G>C
n.870-8C>G
c.2390G>C (p.Gly797Ala)
c.2033G>C (p.Gly678Ala)
n.3091G>C
2g.166277080C>TCA349077463SCN1A-AS1,SCN9Ac.2777G>A (p.Gly926Glu)
c.2744G>A (p.Gly915Glu)
c.434G>A (p.Gly145Glu)
c.1779G>A
n.870-8C>T
c.2390G>A (p.Gly797Glu)
c.2033G>A (p.Gly678Glu)
n.3091G>A
2g.166277081C>ACA349077470SCN1A-AS1,SCN9Ac.2776G>T (p.Gly926Ter)
c.2743G>T (p.Gly915Ter)
c.433G>T (p.Gly145Ter)
c.1778G>T
n.870-7C>A
c.2389G>T (p.Gly797Ter)
c.2032G>T (p.Gly678Ter)
n.3090G>T
 dbSNP
2g.166277081C=CA1304964828SCN1A-AS1,SCN9Ac.2776G= (p.Gly926=)
c.2743G= (p.Gly915=)
c.433G= (p.Gly145=)
c.1778G=
n.870-7C=
c.2389G= (p.Gly797=)
c.2032G= (p.Gly678=)
n.3090G=
2g.166277081C>GCA349077474SCN1A-AS1,SCN9Ac.2776G>C (p.Gly926Arg)
c.2743G>C (p.Gly915Arg)
c.433G>C (p.Gly145Arg)
c.1778G>C
n.870-7C>G
c.2389G>C (p.Gly797Arg)
c.2032G>C (p.Gly678Arg)
n.3090G>C
2g.166277081C>TCA349077472SCN1A-AS1,SCN9Ac.2776G>A (p.Gly926Arg)
c.2743G>A (p.Gly915Arg)
c.433G>A (p.Gly145Arg)
c.1778G>A
n.870-7C>T
c.2389G>A (p.Gly797Arg)
c.2032G>A (p.Gly678Arg)
n.3090G>A
2g.166277082A>CCA349077476SCN1A-AS1,SCN9Ac.2775T>G (p.Cys925Trp)
c.2742T>G (p.Cys914Trp)
c.432T>G (p.Cys144Trp)
c.1777T>G
n.870-6A>C
c.2388T>G (p.Cys796Trp)
c.2031T>G (p.Cys677Trp)
n.3089T>G
2g.166277082A>GCA429978100SCN1A-AS1,SCN9Ac.2775T>C (p.Cys925=)
c.2742T>C (p.Cys914=)
c.432T>C (p.Cys144=)
c.1777T>C
n.870-6A>G
c.2388T>C (p.Cys796=)
c.2031T>C (p.Cys677=)
n.3089T>C
2g.166277082A>TCA349077478SCN1A-AS1,SCN9Ac.2775T>A (p.Cys925Ter)
c.2742T>A (p.Cys914Ter)
c.432T>A (p.Cys144Ter)
c.1777T>A
n.870-6A>T
c.2388T>A (p.Cys796Ter)
c.2031T>A (p.Cys677Ter)
n.3089T>A
2g.166277083C>ACA349077479SCN1A-AS1,SCN9Ac.2774G>T (p.Cys925Phe)
c.2741G>T (p.Cys914Phe)
c.431G>T (p.Cys144Phe)
c.1776G>T
n.870-5C>A
c.2387G>T (p.Cys796Phe)
c.2030G>T (p.Cys677Phe)
n.3088G>T
2g.166277083C>GCA349077480SCN1A-AS1,SCN9Ac.2774G>C (p.Cys925Ser)
c.2741G>C (p.Cys914Ser)
c.431G>C (p.Cys144Ser)
c.1776G>C
n.870-5C>G
c.2387G>C (p.Cys796Ser)
c.2030G>C (p.Cys677Ser)
n.3088G>C
2g.166277083C>TCA349077486SCN1A-AS1,SCN9Ac.2774G>A (p.Cys925Tyr)
c.2741G>A (p.Cys914Tyr)
c.431G>A (p.Cys144Tyr)
c.1776G>A
n.870-5C>T
c.2387G>A (p.Cys796Tyr)
c.2030G>A (p.Cys677Tyr)
n.3088G>A
2g.166277084A>CCA349077489SCN1A-AS1,SCN9Ac.2773T>G (p.Cys925Gly)
c.2740T>G (p.Cys914Gly)
c.430T>G (p.Cys144Gly)
c.1775T>G
n.870-4A>C
c.2386T>G (p.Cys796Gly)
c.2029T>G (p.Cys677Gly)
n.3087T>G
 gnomAD v4
2g.166277084A>GCA349077490SCN1A-AS1,SCN9Ac.2773T>C (p.Cys925Arg)
c.2740T>C (p.Cys914Arg)
c.430T>C (p.Cys144Arg)
c.1775T>C
n.870-4A>G
c.2386T>C (p.Cys796Arg)
c.2029T>C (p.Cys677Arg)
n.3087T>C
 gnomAD v4
2g.166277084A>TCA349077494SCN1A-AS1,SCN9Ac.2773T>A (p.Cys925Ser)
c.2740T>A (p.Cys914Ser)
c.430T>A (p.Cys144Ser)
c.1775T>A
n.870-4A>T
c.2386T>A (p.Cys796Ser)
c.2029T>A (p.Cys677Ser)
n.3087T>A
2g.166277085C>ACA429978102SCN1A-AS1,SCN9Ac.2772G>T (p.Leu924=)
c.2739G>T (p.Leu913=)
c.429G>T (p.Leu143=)
c.1774G>T
n.870-3C>A
c.2385G>T (p.Leu795=)
c.2028G>T (p.Leu676=)
n.3086G>T
2g.166277085C>GCA429978103SCN1A-AS1,SCN9Ac.2772G>C (p.Leu924=)
c.2739G>C (p.Leu913=)
c.429G>C (p.Leu143=)
c.1774G>C
n.870-3C>G
c.2385G>C (p.Leu795=)
c.2028G>C (p.Leu676=)
n.3086G>C
2g.166277085C>TCA429978104SCN1A-AS1,SCN9Ac.2772G>A (p.Leu924=)
c.2739G>A (p.Leu913=)
c.429G>A (p.Leu143=)
c.1774G>A
n.870-3C>T
c.2385G>A (p.Leu795=)
c.2028G>A (p.Leu676=)
n.3086G>A
2g.166277086delCA2661767149SCN1A-AS1,SCN9Ac.2771del (p.Leu924ArgfsTer6)
c.2738del (p.Leu913ArgfsTer6)
c.428del (p.Leu143ArgfsTer6)
c.1773del
n.870-2del
c.2384del (p.Leu795ArgfsTer6)
c.2027del (p.Leu676ArgfsTer6)
n.3085del
 gnomAD v4
2g.166277086A>CCA349077495SCN1A-AS1,SCN9Ac.2771T>G (p.Leu924Arg)
c.2738T>G (p.Leu913Arg)
c.428T>G (p.Leu143Arg)
c.1773T>G
n.870-2A>C
c.2384T>G (p.Leu795Arg)
c.2027T>G (p.Leu676Arg)
n.3085T>G
2g.166277086A>GCA349077496SCN1A-AS1,SCN9Ac.2771T>C (p.Leu924Pro)
c.2738T>C (p.Leu913Pro)
c.428T>C (p.Leu143Pro)
c.1773T>C
n.870-2A>G
c.2384T>C (p.Leu795Pro)
c.2027T>C (p.Leu676Pro)
n.3085T>C
2g.166277086A>TCA349077498SCN1A-AS1,SCN9Ac.2771T>A (p.Leu924Gln)
c.2738T>A (p.Leu913Gln)
c.428T>A (p.Leu143Gln)
c.1773T>A
n.870-2A>T
c.2384T>A (p.Leu795Gln)
c.2027T>A (p.Leu676Gln)
n.3085T>A
2g.166277087G>ACA429978108SCN1A-AS1,SCN9Ac.2770C>T (p.Leu924=)
c.2737C>T (p.Leu913=)
c.427C>T (p.Leu143=)
c.1772C>T
n.870-1G>A
c.2383C>T (p.Leu795=)
c.2026C>T (p.Leu676=)
n.3084C>T
 COSMIC COSMIC
2g.166277087G>CCA349077500SCN1A-AS1,SCN9Ac.2770C>G (p.Leu924Val)
c.2737C>G (p.Leu913Val)
c.427C>G (p.Leu143Val)
c.1772C>G
n.870-1G>C
c.2383C>G (p.Leu795Val)
c.2026C>G (p.Leu676Val)
n.3084C>G
2g.166277087G>TCA349077501SCN1A-AS1,SCN9Ac.2770C>A (p.Leu924Met)
c.2737C>A (p.Leu913Met)
c.427C>A (p.Leu143Met)
c.1772C>A
n.870-1G>T
c.2383C>A (p.Leu795Met)
c.2026C>A (p.Leu676Met)
n.3084C>A
2g.166277088C>ACA429978109SCN1A-AS1,SCN9Ac.2769G>T (p.Val923=)
c.2736G>T (p.Val912=)
c.426G>T (p.Val142=)
c.1771G>T
n.870C>A
c.2382G>T (p.Val794=)
c.2025G>T (p.Val675=)
n.3083G>T
2g.166277088C>GCA429978112SCN1A-AS1,SCN9Ac.2769G>C (p.Val923=)
c.2736G>C (p.Val912=)
c.426G>C (p.Val142=)
c.1771G>C
n.870C>G
c.2382G>C (p.Val794=)
c.2025G>C (p.Val675=)
n.3083G>C
2g.166277088C>TCA429978111SCN1A-AS1,SCN9Ac.2769G>A (p.Val923=)
c.2736G>A (p.Val912=)
c.426G>A (p.Val142=)
c.1771G>A
n.870C>T
c.2382G>A (p.Val794=)
c.2025G>A (p.Val675=)
n.3083G>A
2g.166277089A>CCA349077502SCN1A-AS1,SCN9Ac.2768T>G (p.Val923Gly)
c.2735T>G (p.Val912Gly)
c.425T>G (p.Val142Gly)
c.1770T>G
n.871A>C
c.2381T>G (p.Val794Gly)
c.2024T>G (p.Val675Gly)
n.3082T>G
2g.166277089A>GCA349077506SCN1A-AS1,SCN9Ac.2768T>C (p.Val923Ala)
c.2735T>C (p.Val912Ala)
c.425T>C (p.Val142Ala)
c.1770T>C
n.871A>G
c.2381T>C (p.Val794Ala)
c.2024T>C (p.Val675Ala)
n.3082T>C
2g.166277089A>TCA349077504SCN1A-AS1,SCN9Ac.2768T>A (p.Val923Glu)
c.2735T>A (p.Val912Glu)
c.425T>A (p.Val142Glu)
c.1770T>A
n.871A>T
c.2381T>A (p.Val794Glu)
c.2024T>A (p.Val675Glu)
n.3082T>A
2g.166277090C>ACA349077508SCN1A-AS1,SCN9Ac.2767G>T (p.Val923Leu)
c.2734G>T (p.Val912Leu)
c.424G>T (p.Val142Leu)
c.1769G>T
n.872C>A
c.2380G>T (p.Val794Leu)
c.2023G>T (p.Val675Leu)
n.3081G>T
2g.166277090C=CA1304964833SCN1A-AS1,SCN9Ac.2767G= (p.Val923=)
c.2734G= (p.Val912=)
c.424G= (p.Val142=)
c.1769G=
n.872C=
c.2380G= (p.Val794=)
c.2023G= (p.Val675=)
n.3081G=
2g.166277090C>GCA349077509SCN1A-AS1,SCN9Ac.2767G>C (p.Val923Leu)
c.2734G>C (p.Val912Leu)
c.424G>C (p.Val142Leu)
c.1769G>C
n.872C>G
c.2380G>C (p.Val794Leu)
c.2023G>C (p.Val675Leu)
n.3081G>C
 gnomAD v4
2g.166277090C>TCA1944206SCN1A-AS1,SCN9Ac.2767G>A (p.Val923Met)
c.2734G>A (p.Val912Met)
c.424G>A (p.Val142Met)
c.1769G>A
n.872C>T
c.2380G>A (p.Val794Met)
c.2023G>A (p.Val675Met)
n.3081G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277091G>ACA1944207SCN1A-AS1,SCN9Ac.2766C>T (p.Arg922=)
c.2733C>T (p.Arg911=)
c.423C>T (p.Arg141=)
c.1768C>T
n.873G>A
c.2379C>T (p.Arg793=)
c.2022C>T (p.Arg674=)
n.3080C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277091G>CCA429978116SCN1A-AS1,SCN9Ac.2766C>G (p.Arg922=)
c.2733C>G (p.Arg911=)
c.423C>G (p.Arg141=)
c.1768C>G
n.873G>C
c.2379C>G (p.Arg793=)
c.2022C>G (p.Arg674=)
n.3080C>G
2g.166277091G=CA1304964839SCN1A-AS1,SCN9Ac.2766C= (p.Arg922=)
c.2733C= (p.Arg911=)
c.423C= (p.Arg141=)
c.1768C=
n.873G=
c.2379C= (p.Arg793=)
c.2022C= (p.Arg674=)
n.3080C=
2g.166277091G>TCA429978117SCN1A-AS1,SCN9Ac.2766C>A (p.Arg922=)
c.2733C>A (p.Arg911=)
c.423C>A (p.Arg141=)
c.1768C>A
n.873G>T
c.2379C>A (p.Arg793=)
c.2022C>A (p.Arg674=)
n.3080C>A
2g.166277092C>ACA349077514SCN1A-AS1,SCN9Ac.2765G>T (p.Arg922Leu)
c.2732G>T (p.Arg911Leu)
c.422G>T (p.Arg141Leu)
c.1767G>T
n.874C>A
c.2378G>T (p.Arg793Leu)
c.2021G>T (p.Arg674Leu)
n.3079G>T
2g.166277092C=CA1304964848SCN1A-AS1,SCN9Ac.2765G= (p.Arg922=)
c.2732G= (p.Arg911=)
c.422G= (p.Arg141=)
c.1767G=
n.874C=
c.2378G= (p.Arg793=)
c.2021G= (p.Arg674=)
n.3079G=
2g.166277092C>GCA349077516SCN1A-AS1,SCN9Ac.2765G>C (p.Arg922Pro)
c.2732G>C (p.Arg911Pro)
c.422G>C (p.Arg141Pro)
c.1767G>C
n.874C>G
c.2378G>C (p.Arg793Pro)
c.2021G>C (p.Arg674Pro)
n.3079G>C
2g.166277092C>TCA349077518SCN1A-AS1,SCN9Ac.2765G>A (p.Arg922His)
c.2732G>A (p.Arg911His)
c.422G>A (p.Arg141His)
c.1767G>A
n.874C>T
c.2378G>A (p.Arg793His)
c.2021G>A (p.Arg674His)
n.3079G>A
 ClinVar dbSNP gnomAD v4
2g.166277093G>ACA1944208SCN1A-AS1,SCN9Ac.2764C>T (p.Arg922Cys)
c.2731C>T (p.Arg911Cys)
c.421C>T (p.Arg141Cys)
c.1766C>T
n.875G>A
c.2377C>T (p.Arg793Cys)
c.2020C>T (p.Arg674Cys)
n.3078C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277093G>CCA349077519SCN1A-AS1,SCN9Ac.2764C>G (p.Arg922Gly)
c.2731C>G (p.Arg911Gly)
c.421C>G (p.Arg141Gly)
c.1766C>G
n.875G>C
c.2377C>G (p.Arg793Gly)
c.2020C>G (p.Arg674Gly)
n.3078C>G
2g.166277093G=CA1304964860SCN1A-AS1,SCN9Ac.2764C= (p.Arg922=)
c.2731C= (p.Arg911=)
c.421C= (p.Arg141=)
c.1766C=
n.875G=
c.2377C= (p.Arg793=)
c.2020C= (p.Arg674=)
n.3078C=
2g.166277093G>TCA349077521SCN1A-AS1,SCN9Ac.2764C>A (p.Arg922Ser)
c.2731C>A (p.Arg911Ser)
c.421C>A (p.Arg141Ser)
c.1766C>A
n.875G>T
c.2377C>A (p.Arg793Ser)
c.2020C>A (p.Arg674Ser)
n.3078C>A
2g.166277094G>ACA429978122SCN1A-AS1,SCN9Ac.2763C>T (p.Phe921=)
c.2730C>T (p.Phe910=)
c.420C>T (p.Phe140=)
c.1765C>T
n.876G>A
c.2376C>T (p.Phe792=)
c.2019C>T (p.Phe673=)
n.3077C>T
2g.166277094G>CCA349077524SCN1A-AS1,SCN9Ac.2763C>G (p.Phe921Leu)
c.2730C>G (p.Phe910Leu)
c.420C>G (p.Phe140Leu)
c.1765C>G
n.876G>C
c.2376C>G (p.Phe792Leu)
c.2019C>G (p.Phe673Leu)
n.3077C>G
2g.166277094G>TCA349077525SCN1A-AS1,SCN9Ac.2763C>A (p.Phe921Leu)
c.2730C>A (p.Phe910Leu)
c.420C>A (p.Phe140Leu)
c.1765C>A
n.876G>T
c.2376C>A (p.Phe792Leu)
c.2019C>A (p.Phe673Leu)
n.3077C>A
2g.166277095A>CCA349077528SCN1A-AS1,SCN9Ac.2762T>G (p.Phe921Cys)
c.2729T>G (p.Phe910Cys)
c.419T>G (p.Phe140Cys)
c.1764T>G
n.877A>C
c.2375T>G (p.Phe792Cys)
c.2018T>G (p.Phe673Cys)
n.3076T>G
2g.166277095A>GCA349077530SCN1A-AS1,SCN9Ac.2762T>C (p.Phe921Ser)
c.2729T>C (p.Phe910Ser)
c.419T>C (p.Phe140Ser)
c.1764T>C
n.877A>G
c.2375T>C (p.Phe792Ser)
c.2018T>C (p.Phe673Ser)
n.3076T>C
2g.166277095A>TCA349077531SCN1A-AS1,SCN9Ac.2762T>A (p.Phe921Tyr)
c.2729T>A (p.Phe910Tyr)
c.419T>A (p.Phe140Tyr)
c.1764T>A
n.877A>T
c.2375T>A (p.Phe792Tyr)
c.2018T>A (p.Phe673Tyr)
n.3076T>A
 COSMIC COSMIC
2g.166277096A>CCA349077532SCN1A-AS1,SCN9Ac.2761T>G (p.Phe921Val)
c.2728T>G (p.Phe910Val)
c.418T>G (p.Phe140Val)
c.1763T>G
n.878A>C
c.2374T>G (p.Phe792Val)
c.2017T>G (p.Phe673Val)
n.3075T>G
2g.166277096A>GCA349077534SCN1A-AS1,SCN9Ac.2761T>C (p.Phe921Leu)
c.2728T>C (p.Phe910Leu)
c.418T>C (p.Phe140Leu)
c.1763T>C
n.878A>G
c.2374T>C (p.Phe792Leu)
c.2017T>C (p.Phe673Leu)
n.3075T>C
 gnomAD v4
2g.166277096A>TCA349077536SCN1A-AS1,SCN9Ac.2761T>A (p.Phe921Ile)
c.2728T>A (p.Phe910Ile)
c.418T>A (p.Phe140Ile)
c.1763T>A
n.878A>T
c.2374T>A (p.Phe792Ile)
c.2017T>A (p.Phe673Ile)
n.3075T>A
2g.166277097C>ACA429978128SCN1A-AS1,SCN9Ac.2760G>T (p.Val920=)
c.2727G>T (p.Val909=)
c.417G>T (p.Val139=)
c.1762G>T
n.879C>A
c.2373G>T (p.Val791=)
c.2016G>T (p.Val672=)
n.3074G>T
 gnomAD v4
2g.166277097C=CA1304964869SCN1A-AS1,SCN9Ac.2760G= (p.Val920=)
c.2727G= (p.Val909=)
c.417G= (p.Val139=)
c.1762G=
n.879C=
c.2373G= (p.Val791=)
c.2016G= (p.Val672=)
n.3074G=
2g.166277097C>GCA429978130SCN1A-AS1,SCN9Ac.2760G>C (p.Val920=)
c.2727G>C (p.Val909=)
c.417G>C (p.Val139=)
c.1762G>C
n.879C>G
c.2373G>C (p.Val791=)
c.2016G>C (p.Val672=)
n.3074G>C
2g.166277097C>TCA1944209SCN1A-AS1,SCN9Ac.2760G>A (p.Val920=)
c.2727G>A (p.Val909=)
c.417G>A (p.Val139=)
c.1762G>A
n.879C>T
c.2373G>A (p.Val791=)
c.2016G>A (p.Val672=)
n.3074G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277098A>CCA349077539SCN1A-AS1,SCN9Ac.2759T>G (p.Val920Gly)
c.2726T>G (p.Val909Gly)
c.416T>G (p.Val139Gly)
c.1761T>G
n.880A>C
c.2372T>G (p.Val791Gly)
c.2015T>G (p.Val672Gly)
n.3073T>G
2g.166277098A>GCA349077541SCN1A-AS1,SCN9Ac.2759T>C (p.Val920Ala)
c.2726T>C (p.Val909Ala)
c.416T>C (p.Val139Ala)
c.1761T>C
n.880A>G
c.2372T>C (p.Val791Ala)
c.2015T>C (p.Val672Ala)
n.3073T>C
2g.166277098A>TCA349077542SCN1A-AS1,SCN9Ac.2759T>A (p.Val920Glu)
c.2726T>A (p.Val909Glu)
c.416T>A (p.Val139Glu)
c.1761T>A
n.880A>T
c.2372T>A (p.Val791Glu)
c.2015T>A (p.Val672Glu)
n.3073T>A
 gnomAD v4
2g.166277099C>ACA349077544SCN1A-AS1,SCN9Ac.2758G>T (p.Val920Leu)
c.2725G>T (p.Val909Leu)
c.415G>T (p.Val139Leu)
c.1760G>T
n.881C>A
c.2371G>T (p.Val791Leu)
c.2014G>T (p.Val672Leu)
n.3072G>T
2g.166277099C>GCA349077546SCN1A-AS1,SCN9Ac.2758G>C (p.Val920Leu)
c.2725G>C (p.Val909Leu)
c.415G>C (p.Val139Leu)
c.1760G>C
n.881C>G
c.2371G>C (p.Val791Leu)
c.2014G>C (p.Val672Leu)
n.3072G>C
2g.166277099C>TCA349077548SCN1A-AS1,SCN9Ac.2758G>A (p.Val920Met)
c.2725G>A (p.Val909Met)
c.415G>A (p.Val139Met)
c.1760G>A
n.881C>T
c.2371G>A (p.Val791Met)
c.2014G>A (p.Val672Met)
n.3072G>A
2g.166277100A=CA1304964878SCN1A-AS1,SCN9Ac.2757T= (p.Ile919=)
c.2724T= (p.Ile908=)
c.414T= (p.Ile138=)
c.1759T=
n.882A=
c.2370T= (p.Ile790=)
c.2013T= (p.Ile671=)
n.3071T=
2g.166277100A>CCA349077551SCN1A-AS1,SCN9Ac.2757T>G (p.Ile919Met)
c.2724T>G (p.Ile908Met)
c.414T>G (p.Ile138Met)
c.1759T>G
n.882A>C
c.2370T>G (p.Ile790Met)
c.2013T>G (p.Ile671Met)
n.3071T>G
2g.166277100A>GCA429978135SCN1A-AS1,SCN9Ac.2757T>C (p.Ile919=)
c.2724T>C (p.Ile908=)
c.414T>C (p.Ile138=)
c.1759T>C
n.882A>G
c.2370T>C (p.Ile790=)
c.2013T>C (p.Ile671=)
n.3071T>C
2g.166277100A>TCA429978134SCN1A-AS1,SCN9Ac.2757T>A (p.Ile919=)
c.2724T>A (p.Ile908=)
c.414T>A (p.Ile138=)
c.1759T>A
n.882A>T
c.2370T>A (p.Ile790=)
c.2013T>A (p.Ile671=)
n.3071T>A
 ClinVar dbSNP
2g.166277101A=CA1304964885SCN1A-AS1,SCN9Ac.2756T= (p.Ile919=)
c.2723T= (p.Ile908=)
c.413T= (p.Ile138=)
c.1758T=
n.883A=
c.2369T= (p.Ile790=)
c.2012T= (p.Ile671=)
n.3070T=
2g.166277101A>CCA349077553SCN1A-AS1,SCN9Ac.2756T>G (p.Ile919Ser)
c.2723T>G (p.Ile908Ser)
c.413T>G (p.Ile138Ser)
c.1758T>G
n.883A>C
c.2369T>G (p.Ile790Ser)
c.2012T>G (p.Ile671Ser)
n.3070T>G
2g.166277101A>GCA349077555SCN1A-AS1,SCN9Ac.2756T>C (p.Ile919Thr)
c.2723T>C (p.Ile908Thr)
c.413T>C (p.Ile138Thr)
c.1758T>C
n.883A>G
c.2369T>C (p.Ile790Thr)
c.2012T>C (p.Ile671Thr)
n.3070T>C
 dbSNP
2g.166277101A>TCA349077557SCN1A-AS1,SCN9Ac.2756T>A (p.Ile919Asn)
c.2723T>A (p.Ile908Asn)
c.413T>A (p.Ile138Asn)
c.1758T>A
n.883A>T
c.2369T>A (p.Ile790Asn)
c.2012T>A (p.Ile671Asn)
n.3070T>A
2g.166277102_166277104delCA2573133704SCN1A-AS1,SCN9Ac.2754_2756del (p.Ile919del)
c.2721_2723del (p.Ile908del)
c.411_413del (p.Ile138del)
c.1756_1758del
n.884_886del
c.2367_2369del (p.Ile790del)
c.2010_2012del (p.Ile671del)
n.3068_3070del
 ClinVar dbSNP
2g.166277102T>ACA349077559SCN1A-AS1,SCN9Ac.2755A>T (p.Ile919Phe)
c.2722A>T (p.Ile908Phe)
c.412A>T (p.Ile138Phe)
c.1757A>T
n.884T>A
c.2368A>T (p.Ile790Phe)
c.2011A>T (p.Ile671Phe)
n.3069A>T
2g.166277102T>CCA349077561SCN1A-AS1,SCN9Ac.2755A>G (p.Ile919Val)
c.2722A>G (p.Ile908Val)
c.412A>G (p.Ile138Val)
c.1757A>G
n.884T>C
c.2368A>G (p.Ile790Val)
c.2011A>G (p.Ile671Val)
n.3069A>G
2g.166277102T>GCA349077563SCN1A-AS1,SCN9Ac.2755A>C (p.Ile919Leu)
c.2722A>C (p.Ile908Leu)
c.412A>C (p.Ile138Leu)
c.1757A>C
n.884T>G
c.2368A>C (p.Ile790Leu)
c.2011A>C (p.Ile671Leu)
n.3069A>C
2g.166277103C>ACA429978140SCN1A-AS1,SCN9Ac.2754G>T (p.Leu918=)
c.2721G>T (p.Leu907=)
c.411G>T (p.Leu137=)
c.1756G>T
n.885C>A
c.2367G>T (p.Leu789=)
c.2010G>T (p.Leu670=)
n.3068G>T
2g.166277103C>GCA429978143SCN1A-AS1,SCN9Ac.2754G>C (p.Leu918=)
c.2721G>C (p.Leu907=)
c.411G>C (p.Leu137=)
c.1756G>C
n.885C>G
c.2367G>C (p.Leu789=)
c.2010G>C (p.Leu670=)
n.3068G>C
2g.166277103C>TCA429978145SCN1A-AS1,SCN9Ac.2754G>A (p.Leu918=)
c.2721G>A (p.Leu907=)
c.411G>A (p.Leu137=)
c.1756G>A
n.885C>T
c.2367G>A (p.Leu789=)
c.2010G>A (p.Leu670=)
n.3068G>A
 gnomAD v4
2g.166277104A>CCA349077564SCN1A-AS1,SCN9Ac.2753T>G (p.Leu918Arg)
c.2720T>G (p.Leu907Arg)
c.410T>G (p.Leu137Arg)
c.1755T>G
n.886A>C
c.2366T>G (p.Leu789Arg)
c.2009T>G (p.Leu670Arg)
n.3067T>G
2g.166277104A>GCA349077565SCN1A-AS1,SCN9Ac.2753T>C (p.Leu918Pro)
c.2720T>C (p.Leu907Pro)
c.410T>C (p.Leu137Pro)
c.1755T>C
n.886A>G
c.2366T>C (p.Leu789Pro)
c.2009T>C (p.Leu670Pro)
n.3067T>C
2g.166277104A>TCA349077567SCN1A-AS1,SCN9Ac.2753T>A (p.Leu918Gln)
c.2720T>A (p.Leu907Gln)
c.410T>A (p.Leu137Gln)
c.1755T>A
n.886A>T
c.2366T>A (p.Leu789Gln)
c.2009T>A (p.Leu670Gln)
n.3067T>A
2g.166277105G>ACA429978148SCN1A-AS1,SCN9Ac.2752C>T (p.Leu918=)
c.2719C>T (p.Leu907=)
c.409C>T (p.Leu137=)
c.1754C>T
n.887G>A
c.2365C>T (p.Leu789=)
c.2008C>T (p.Leu670=)
n.3066C>T
 gnomAD v4
2g.166277105G>CCA349077568SCN1A-AS1,SCN9Ac.2752C>G (p.Leu918Val)
c.2719C>G (p.Leu907Val)
c.409C>G (p.Leu137Val)
c.1754C>G
n.887G>C
c.2365C>G (p.Leu789Val)
c.2008C>G (p.Leu670Val)
n.3066C>G
 gnomAD v4
2g.166277105G>TCA349077570SCN1A-AS1,SCN9Ac.2752C>A (p.Leu918Met)
c.2719C>A (p.Leu907Met)
c.409C>A (p.Leu137Met)
c.1754C>A
n.887G>T
c.2365C>A (p.Leu789Met)
c.2008C>A (p.Leu670Met)
n.3066C>A
2g.166277106G>ACA429978152SCN1A-AS1,SCN9Ac.2751C>T (p.Phe917=)
c.2718C>T (p.Phe906=)
c.408C>T (p.Phe136=)
c.1753C>T
n.888G>A
c.2364C>T (p.Phe788=)
c.2007C>T (p.Phe669=)
n.3065C>T
 COSMIC COSMIC
2g.166277106G>CCA349077572SCN1A-AS1,SCN9Ac.2751C>G (p.Phe917Leu)
c.2718C>G (p.Phe906Leu)
c.408C>G (p.Phe136Leu)
c.1753C>G
n.888G>C
c.2364C>G (p.Phe788Leu)
c.2007C>G (p.Phe669Leu)
n.3065C>G
2g.166277106G>TCA349077573SCN1A-AS1,SCN9Ac.2751C>A (p.Phe917Leu)
c.2718C>A (p.Phe906Leu)
c.408C>A (p.Phe136Leu)
c.1753C>A
n.888G>T
c.2364C>A (p.Phe788Leu)
c.2007C>A (p.Phe669Leu)
n.3065C>A
2g.166277107A>CCA349077578SCN1A-AS1,SCN9Ac.2750T>G (p.Phe917Cys)
c.2717T>G (p.Phe906Cys)
c.407T>G (p.Phe136Cys)
c.1752T>G
n.889A>C
c.2363T>G (p.Phe788Cys)
c.2006T>G (p.Phe669Cys)
n.3064T>G
2g.166277107A>GCA349077580SCN1A-AS1,SCN9Ac.2750T>C (p.Phe917Ser)
c.2717T>C (p.Phe906Ser)
c.407T>C (p.Phe136Ser)
c.1752T>C
n.889A>G
c.2363T>C (p.Phe788Ser)
c.2006T>C (p.Phe669Ser)
n.3064T>C
2g.166277107A>TCA349077576SCN1A-AS1,SCN9Ac.2750T>A (p.Phe917Tyr)
c.2717T>A (p.Phe906Tyr)
c.407T>A (p.Phe136Tyr)
c.1752T>A
n.889A>T
c.2363T>A (p.Phe788Tyr)
c.2006T>A (p.Phe669Tyr)
n.3064T>A
2g.166277108A>CCA349077586SCN1A-AS1,SCN9Ac.2749T>G (p.Phe917Val)
c.2716T>G (p.Phe906Val)
c.406T>G (p.Phe136Val)
c.1751T>G
n.890A>C
c.2362T>G (p.Phe788Val)
c.2005T>G (p.Phe669Val)
n.3063T>G
2g.166277108A>GCA349077583SCN1A-AS1,SCN9Ac.2749T>C (p.Phe917Leu)
c.2716T>C (p.Phe906Leu)
c.406T>C (p.Phe136Leu)
c.1751T>C
n.890A>G
c.2362T>C (p.Phe788Leu)
c.2005T>C (p.Phe669Leu)
n.3063T>C
2g.166277108A>TCA349077585SCN1A-AS1,SCN9Ac.2749T>A (p.Phe917Ile)
c.2716T>A (p.Phe906Ile)
c.406T>A (p.Phe136Ile)
c.1751T>A
n.890A>T
c.2362T>A (p.Phe788Ile)
c.2005T>A (p.Phe669Ile)
n.3063T>A
2g.166277109G>ACA1944210SCN1A-AS1,SCN9Ac.2748C>T (p.Ser916=)
c.2715C>T (p.Ser905=)
c.405C>T (p.Ser135=)
c.1750C>T
n.891G>A
c.2361C>T (p.Ser787=)
c.2004C>T (p.Ser668=)
n.3062C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.166277109G>CCA429978159SCN1A-AS1,SCN9Ac.2748C>G (p.Ser916=)
c.2715C>G (p.Ser905=)
c.405C>G (p.Ser135=)
c.1750C>G
n.891G>C
c.2361C>G (p.Ser787=)
c.2004C>G (p.Ser668=)
n.3062C>G
2g.166277109G=CA1304964890SCN1A-AS1,SCN9Ac.2748C= (p.Ser916=)
c.2715C= (p.Ser905=)
c.405C= (p.Ser135=)
c.1750C=
n.891G=
c.2361C= (p.Ser787=)
c.2004C= (p.Ser668=)
n.3062C=
2g.166277109G>TCA429978158SCN1A-AS1,SCN9Ac.2748C>A (p.Ser916=)
c.2715C>A (p.Ser905=)
c.405C>A (p.Ser135=)
c.1750C>A
n.891G>T
c.2361C>A (p.Ser787=)
c.2004C>A (p.Ser668=)
n.3062C>A
2g.166277110G>ACA349077595SCN1A-AS1,SCN9Ac.2747C>T (p.Ser916Phe)
c.2714C>T (p.Ser905Phe)
c.404C>T (p.Ser135Phe)
c.1749C>T
n.892G>A
c.2360C>T (p.Ser787Phe)
c.2003C>T (p.Ser668Phe)
n.3061C>T
 COSMIC COSMIC
2g.166277110G>CCA349077597SCN1A-AS1,SCN9Ac.2747C>G (p.Ser916Cys)
c.2714C>G (p.Ser905Cys)
c.404C>G (p.Ser135Cys)
c.1749C>G
n.892G>C
c.2360C>G (p.Ser787Cys)
c.2003C>G (p.Ser668Cys)
n.3061C>G
 gnomAD v4
2g.166277110G>TCA349077598SCN1A-AS1,SCN9Ac.2747C>A (p.Ser916Tyr)
c.2714C>A (p.Ser905Tyr)
c.404C>A (p.Ser135Tyr)
c.1749C>A
n.892G>T
c.2360C>A (p.Ser787Tyr)
c.2003C>A (p.Ser668Tyr)
n.3061C>A
2g.166277111A>CCA349077602SCN1A-AS1,SCN9Ac.2746T>G (p.Ser916Ala)
c.2713T>G (p.Ser905Ala)
c.403T>G (p.Ser135Ala)
c.1748T>G
n.893A>C
c.2359T>G (p.Ser787Ala)
c.2002T>G (p.Ser668Ala)
n.3060T>G
2g.166277111A>GCA349077600SCN1A-AS1,SCN9Ac.2746T>C (p.Ser916Pro)
c.2713T>C (p.Ser905Pro)
c.403T>C (p.Ser135Pro)
c.1748T>C
n.893A>G
c.2359T>C (p.Ser787Pro)
c.2002T>C (p.Ser668Pro)
n.3060T>C
2g.166277111A>TCA349077601SCN1A-AS1,SCN9Ac.2746T>A (p.Ser916Thr)
c.2713T>A (p.Ser905Thr)
c.403T>A (p.Ser135Thr)
c.1748T>A
n.893A>T
c.2359T>A (p.Ser787Thr)
c.2002T>A (p.Ser668Thr)
n.3060T>A
2g.166277112G>ACA429978161SCN1A-AS1,SCN9Ac.2745C>T (p.His915=)
c.2712C>T (p.His904=)
c.402C>T (p.His134=)
c.1747C>T
n.894G>A
c.2358C>T (p.His786=)
c.2001C>T (p.His667=)
n.3059C>T
 gnomAD v4
2g.166277112G>CCA349077604SCN1A-AS1,SCN9Ac.2745C>G (p.His915Gln)
c.2712C>G (p.His904Gln)
c.402C>G (p.His134Gln)
c.1747C>G
n.894G>C
c.2358C>G (p.His786Gln)
c.2001C>G (p.His667Gln)
n.3059C>G
2g.166277112G>TCA349077605SCN1A-AS1,SCN9Ac.2745C>A (p.His915Gln)
c.2712C>A (p.His904Gln)
c.402C>A (p.His134Gln)
c.1747C>A
n.894G>T
c.2358C>A (p.His786Gln)
c.2001C>A (p.His667Gln)
n.3059C>A
2g.166277113_166277115dupCA2661767150SCN1A-AS1,SCN9Ac.2743_2745dup (p.His915_Ser916insHis)
c.2710_2712dup (p.His904_Ser905insHis)
c.400_402dup (p.His134_Ser135insHis)
c.1745_1747dup
n.895_897dup
c.2356_2358dup (p.His786_Ser787insHis)
c.1999_2001dup (p.His667_Ser668insHis)
n.3057_3059dup
 gnomAD v4
2g.166277112_166277128delinsGTGGAAGAAGTCGTTCACA1304964897SCN1A-AS1,SCN9Ac.2729_2745delinsTGAACGACTTCTTCCAC (p.Met910=)
c.2696_2712delinsTGAACGACTTCTTCCAC (p.Met899=)
c.386_402delinsTGAACGACTTCTTCCAC (p.Met129=)
c.1731_1747delinsTGAACGACTTCTTCCAC
n.894_910delinsGTGGAAGAAGTCGTTCA
c.2342_2358delinsTGAACGACTTCTTCCAC (p.Met781=)
c.1985_2001delinsTGAACGACTTCTTCCAC (p.Met662=)
n.3043_3059delinsTGAACGACTTCTTCCAC
2g.166277113T>ACA349077606SCN1A-AS1,SCN9Ac.2744A>T (p.His915Leu)
c.2711A>T (p.His904Leu)
c.401A>T (p.His134Leu)
c.1746A>T
n.895T>A
c.2357A>T (p.His786Leu)
c.2000A>T (p.His667Leu)
n.3058A>T
2g.166277113T>CCA349077608SCN1A-AS1,SCN9Ac.2744A>G (p.His915Arg)
c.2711A>G (p.His904Arg)
c.401A>G (p.His134Arg)
c.1746A>G
n.895T>C
c.2357A>G (p.His786Arg)
c.2000A>G (p.His667Arg)
n.3058A>G
2g.166277113T>GCA349077610SCN1A-AS1,SCN9Ac.2744A>C (p.His915Pro)
c.2711A>C (p.His904Pro)
c.401A>C (p.His134Pro)
c.1746A>C
n.895T>G
c.2357A>C (p.His786Pro)
c.2000A>C (p.His667Pro)
n.3058A>C
2g.166277115_166277130delCA1304964901SCN1A-AS1,SCN9Ac.2729_2744del (p.Met910ThrfsTer4)
c.2696_2711del (p.Met899ThrfsTer4)
c.386_401del (p.Met129ThrfsTer4)
c.1731_1746del
n.897_912del
c.2342_2357del (p.Met781ThrfsTer4)
c.1985_2000del (p.Met662ThrfsTer4)
n.3043_3058del
 dbSNP
2g.166277114G>ACA349077616SCN1A-AS1,SCN9Ac.2743C>T (p.His915Tyr)
c.2710C>T (p.His904Tyr)
c.400C>T (p.His134Tyr)
c.1745C>T
n.896G>A
c.2356C>T (p.His786Tyr)
c.1999C>T (p.His667Tyr)
n.3057C>T
2g.166277114G>CCA349077612SCN1A-AS1,SCN9Ac.2743C>G (p.His915Asp)
c.2710C>G (p.His904Asp)
c.400C>G (p.His134Asp)
c.1745C>G
n.896G>C
c.2356C>G (p.His786Asp)
c.1999C>G (p.His667Asp)
n.3057C>G
2g.166277114G>TCA349077614SCN1A-AS1,SCN9Ac.2743C>A (p.His915Asn)
c.2710C>A (p.His904Asn)
c.400C>A (p.His134Asn)
c.1745C>A
n.896G>T
c.2356C>A (p.His786Asn)
c.1999C>A (p.His667Asn)
n.3057C>A
2g.166277115G>ACA429978166SCN1A-AS1,SCN9Ac.2742C>T (p.Phe914=)
c.2709C>T (p.Phe903=)
c.399C>T (p.Phe133=)
c.1744C>T
n.897G>A
c.2355C>T (p.Phe785=)
c.1998C>T (p.Phe666=)
n.3056C>T
 gnomAD v4
2g.166277115G>CCA349077618SCN1A-AS1,SCN9Ac.2742C>G (p.Phe914Leu)
c.2709C>G (p.Phe903Leu)
c.399C>G (p.Phe133Leu)
c.1744C>G
n.897G>C
c.2355C>G (p.Phe785Leu)
c.1998C>G (p.Phe666Leu)
n.3056C>G
 gnomAD v4
2g.166277115G>TCA349077620SCN1A-AS1,SCN9Ac.2742C>A (p.Phe914Leu)
c.2709C>A (p.Phe903Leu)
c.399C>A (p.Phe133Leu)
c.1744C>A
n.897G>T
c.2355C>A (p.Phe785Leu)
c.1998C>A (p.Phe666Leu)
n.3056C>A
2g.166277116A>CCA349077622SCN1A-AS1,SCN9Ac.2741T>G (p.Phe914Cys)
c.2708T>G (p.Phe903Cys)
c.398T>G (p.Phe133Cys)
c.1743T>G
n.898A>C
c.2354T>G (p.Phe785Cys)
c.1997T>G (p.Phe666Cys)
n.3055T>G
2g.166277116A>GCA349077623SCN1A-AS1,SCN9Ac.2741T>C (p.Phe914Ser)
c.2708T>C (p.Phe903Ser)
c.398T>C (p.Phe133Ser)
c.1743T>C
n.898A>G
c.2354T>C (p.Phe785Ser)
c.1997T>C (p.Phe666Ser)
n.3055T>C
2g.166277116A>TCA349077624SCN1A-AS1,SCN9Ac.2741T>A (p.Phe914Tyr)
c.2708T>A (p.Phe903Tyr)
c.398T>A (p.Phe133Tyr)
c.1743T>A
n.898A>T
c.2354T>A (p.Phe785Tyr)
c.1997T>A (p.Phe666Tyr)
n.3055T>A
2g.166277117A>CCA349077627SCN1A-AS1,SCN9Ac.2740T>G (p.Phe914Val)
c.2707T>G (p.Phe903Val)
c.397T>G (p.Phe133Val)
c.1742T>G
n.899A>C
c.2353T>G (p.Phe785Val)
c.1996T>G (p.Phe666Val)
n.3054T>G
2g.166277117A>GCA349077629SCN1A-AS1,SCN9Ac.2740T>C (p.Phe914Leu)
c.2707T>C (p.Phe903Leu)
c.397T>C (p.Phe133Leu)
c.1742T>C
n.899A>G
c.2353T>C (p.Phe785Leu)
c.1996T>C (p.Phe666Leu)
n.3054T>C
2g.166277117A>TCA349077630SCN1A-AS1,SCN9Ac.2740T>A (p.Phe914Ile)
c.2707T>A (p.Phe903Ile)
c.397T>A (p.Phe133Ile)
c.1742T>A
n.899A>T
c.2353T>A (p.Phe785Ile)
c.1996T>A (p.Phe666Ile)
n.3054T>A
2g.166277118G>ACA429978167SCN1A-AS1,SCN9Ac.2739C>T (p.Phe913=)
c.2706C>T (p.Phe902=)
c.396C>T (p.Phe132=)
c.1741C>T
n.900G>A
c.2352C>T (p.Phe784=)
c.1995C>T (p.Phe665=)
n.3053C>T
 COSMIC COSMIC
2g.166277118G>CCA349077633SCN1A-AS1,SCN9Ac.2739C>G (p.Phe913Leu)
c.2706C>G (p.Phe902Leu)
c.396C>G (p.Phe132Leu)
c.1741C>G
n.900G>C
c.2352C>G (p.Phe784Leu)
c.1995C>G (p.Phe665Leu)
n.3053C>G
2g.166277118G>TCA349077635SCN1A-AS1,SCN9Ac.2739C>A (p.Phe913Leu)
c.2706C>A (p.Phe902Leu)
c.396C>A (p.Phe132Leu)
c.1741C>A
n.900G>T
c.2352C>A (p.Phe784Leu)
c.1995C>A (p.Phe665Leu)
n.3053C>A
2g.166277119A=CA1304964903SCN1A-AS1,SCN9Ac.2738T= (p.Phe913=)
c.2705T= (p.Phe902=)
c.395T= (p.Phe132=)
c.1740T=
n.901A=
c.2351T= (p.Phe784=)
c.1994T= (p.Phe665=)
n.3052T=
2g.166277119A>CCA349077636SCN1A-AS1,SCN9Ac.2738T>G (p.Phe913Cys)
c.2705T>G (p.Phe902Cys)
c.395T>G (p.Phe132Cys)
c.1740T>G
n.901A>C
c.2351T>G (p.Phe784Cys)
c.1994T>G (p.Phe665Cys)
n.3052T>G
2g.166277119A>GCA349077638SCN1A-AS1,SCN9Ac.2738T>C (p.Phe913Ser)
c.2705T>C (p.Phe902Ser)
c.395T>C (p.Phe132Ser)
c.1740T>C
n.901A>G
c.2351T>C (p.Phe784Ser)
c.1994T>C (p.Phe665Ser)
n.3052T>C
 dbSNP gnomAD v4
2g.166277119A>TCA349077640SCN1A-AS1,SCN9Ac.2738T>A (p.Phe913Tyr)
c.2705T>A (p.Phe902Tyr)
c.395T>A (p.Phe132Tyr)
c.1740T>A
n.901A>T
c.2351T>A (p.Phe784Tyr)
c.1994T>A (p.Phe665Tyr)
n.3052T>A
2g.166277120A>CCA349077642SCN1A-AS1,SCN9Ac.2737T>G (p.Phe913Val)
c.2704T>G (p.Phe902Val)
c.394T>G (p.Phe132Val)
c.1739T>G
n.902A>C
c.2350T>G (p.Phe784Val)
c.1993T>G (p.Phe665Val)
n.3051T>G
2g.166277120A>GCA349077646SCN1A-AS1,SCN9Ac.2737T>C (p.Phe913Leu)
c.2704T>C (p.Phe902Leu)
c.394T>C (p.Phe132Leu)
c.1739T>C
n.902A>G
c.2350T>C (p.Phe784Leu)
c.1993T>C (p.Phe665Leu)
n.3051T>C
 ClinVar
2g.166277120A>TCA349077644SCN1A-AS1,SCN9Ac.2737T>A (p.Phe913Ile)
c.2704T>A (p.Phe902Ile)
c.394T>A (p.Phe132Ile)
c.1739T>A
n.902A>T
c.2350T>A (p.Phe784Ile)
c.1993T>A (p.Phe665Ile)
n.3051T>A
2g.166277121G>ACA429978169SCN1A-AS1,SCN9Ac.2736C>T (p.Asp912=)
c.2703C>T (p.Asp901=)
c.393C>T (p.Asp131=)
c.1738C>T
n.903G>A
c.2349C>T (p.Asp783=)
c.1992C>T (p.Asp664=)
n.3050C>T
2g.166277121G>CCA349077648SCN1A-AS1,SCN9Ac.2736C>G (p.Asp912Glu)
c.2703C>G (p.Asp901Glu)
c.393C>G (p.Asp131Glu)
c.1738C>G
n.903G>C
c.2349C>G (p.Asp783Glu)
c.1992C>G (p.Asp664Glu)
n.3050C>G
2g.166277121G>TCA349077650SCN1A-AS1,SCN9Ac.2736C>A (p.Asp912Glu)
c.2703C>A (p.Asp901Glu)
c.393C>A (p.Asp131Glu)
c.1738C>A
n.903G>T
c.2349C>A (p.Asp783Glu)
c.1992C>A (p.Asp664Glu)
n.3050C>A
2g.166277122T>ACA349077652SCN1A-AS1,SCN9Ac.2735A>T (p.Asp912Val)
c.2702A>T (p.Asp901Val)
c.392A>T (p.Asp131Val)
c.1737A>T
n.904T>A
c.2348A>T (p.Asp783Val)
c.1991A>T (p.Asp664Val)
n.3049A>T
2g.166277122T>CCA349077654SCN1A-AS1,SCN9Ac.2735A>G (p.Asp912Gly)
c.2702A>G (p.Asp901Gly)
c.392A>G (p.Asp131Gly)
c.1737A>G
n.904T>C
c.2348A>G (p.Asp783Gly)
c.1991A>G (p.Asp664Gly)
n.3049A>G
2g.166277122T>GCA349077656SCN1A-AS1,SCN9Ac.2735A>C (p.Asp912Ala)
c.2702A>C (p.Asp901Ala)
c.392A>C (p.Asp131Ala)
c.1737A>C
n.904T>G
c.2348A>C (p.Asp783Ala)
c.1991A>C (p.Asp664Ala)
n.3049A>C
2g.166277123C>ACA349077658SCN1A-AS1,SCN9Ac.2734G>T (p.Asp912Tyr)
c.2701G>T (p.Asp901Tyr)
c.391G>T (p.Asp131Tyr)
c.1736G>T
n.905C>A
c.2347G>T (p.Asp783Tyr)
c.1990G>T (p.Asp664Tyr)
n.3048G>T
2g.166277123C>GCA349077660SCN1A-AS1,SCN9Ac.2734G>C (p.Asp912His)
c.2701G>C (p.Asp901His)
c.391G>C (p.Asp131His)
c.1736G>C
n.905C>G
c.2347G>C (p.Asp783His)
c.1990G>C (p.Asp664His)
n.3048G>C
2g.166277123C>TCA349077661SCN1A-AS1,SCN9Ac.2734G>A (p.Asp912Asn)
c.2701G>A (p.Asp901Asn)
c.391G>A (p.Asp131Asn)
c.1736G>A
n.905C>T
c.2347G>A (p.Asp783Asn)
c.1990G>A (p.Asp664Asn)
n.3048G>A
 ClinVar dbSNP gnomAD v4
2g.166277124G>ACA1944211SCN1A-AS1,SCN9Ac.2733C>T (p.Asn911=)
c.2700C>T (p.Asn900=)
c.390C>T (p.Asn130=)
c.1735C>T
n.906G>A
c.2346C>T (p.Asn782=)
c.1989C>T (p.Asn663=)
n.3047C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166277124G>CCA349077665SCN1A-AS1,SCN9Ac.2733C>G (p.Asn911Lys)
c.2700C>G (p.Asn900Lys)
c.390C>G (p.Asn130Lys)
c.1735C>G
n.906G>C
c.2346C>G (p.Asn782Lys)
c.1989C>G (p.Asn663Lys)
n.3047C>G
2g.166277124G=CA1304964911SCN1A-AS1,SCN9Ac.2733C= (p.Asn911=)
c.2700C= (p.Asn900=)
c.390C= (p.Asn130=)
c.1735C=
n.906G=
c.2346C= (p.Asn782=)
c.1989C= (p.Asn663=)
n.3047C=
2g.166277124G>TCA349077666SCN1A-AS1,SCN9Ac.2733C>A (p.Asn911Lys)
c.2700C>A (p.Asn900Lys)
c.390C>A (p.Asn130Lys)
c.1735C>A
n.906G>T
c.2346C>A (p.Asn782Lys)
c.1989C>A (p.Asn663Lys)
n.3047C>A
2g.166277125T>ACA349077672SCN1A-AS1,SCN9Ac.2732A>T (p.Asn911Ile)
c.2699A>T (p.Asn900Ile)
c.389A>T (p.Asn130Ile)
c.1734A>T
n.907T>A
c.2345A>T (p.Asn782Ile)
c.1988A>T (p.Asn663Ile)
n.3046A>T
2g.166277125T>CCA349077670SCN1A-AS1,SCN9Ac.2732A>G (p.Asn911Ser)
c.2699A>G (p.Asn900Ser)
c.389A>G (p.Asn130Ser)
c.1734A>G
n.907T>C
c.2345A>G (p.Asn782Ser)
c.1988A>G (p.Asn663Ser)
n.3046A>G
2g.166277125T>GCA349077668SCN1A-AS1,SCN9Ac.2732A>C (p.Asn911Thr)
c.2699A>C (p.Asn900Thr)
c.389A>C (p.Asn130Thr)
c.1734A>C
n.907T>G
c.2345A>C (p.Asn782Thr)
c.1988A>C (p.Asn663Thr)
n.3046A>C
 ClinVar dbSNP
2g.166277125T=CA1304964920SCN1A-AS1,SCN9Ac.2732A= (p.Asn911=)
c.2699A= (p.Asn900=)
c.389A= (p.Asn130=)
c.1734A=
n.907T=
c.2345A= (p.Asn782=)
c.1988A= (p.Asn663=)
n.3046A=
2g.166277126T>ACA349077674SCN1A-AS1,SCN9Ac.2731A>T (p.Asn911Tyr)
c.2698A>T (p.Asn900Tyr)
c.388A>T (p.Asn130Tyr)
c.1733A>T
n.908T>A
c.2344A>T (p.Asn782Tyr)
c.1987A>T (p.Asn663Tyr)
n.3045A>T
2g.166277126T>CCA349077676SCN1A-AS1,SCN9Ac.2731A>G (p.Asn911Asp)
c.2698A>G (p.Asn900Asp)
c.388A>G (p.Asn130Asp)
c.1733A>G
n.908T>C
c.2344A>G (p.Asn782Asp)
c.1987A>G (p.Asn663Asp)
n.3045A>G
2g.166277126T>GCA349077677SCN1A-AS1,SCN9Ac.2731A>C (p.Asn911His)
c.2698A>C (p.Asn900His)
c.388A>C (p.Asn130His)
c.1733A>C
n.908T>G
c.2344A>C (p.Asn782His)
c.1987A>C (p.Asn663His)
n.3045A>C
2g.166277127C>ACA349077680SCN1A-AS1,SCN9Ac.2730G>T (p.Met910Ile)
c.2697G>T (p.Met899Ile)
c.387G>T (p.Met129Ile)
c.1732G>T
n.909C>A
c.2343G>T (p.Met781Ile)
c.1986G>T (p.Met662Ile)
n.3044G>T
2g.166277127C=CA1304964926SCN1A-AS1,SCN9Ac.2730G= (p.Met910=)
c.2697G= (p.Met899=)
c.387G= (p.Met129=)
c.1732G=
n.909C=
c.2343G= (p.Met781=)
c.1986G= (p.Met662=)
n.3044G=
2g.166277127C>GCA349077682SCN1A-AS1,SCN9Ac.2730G>C (p.Met910Ile)
c.2697G>C (p.Met899Ile)
c.387G>C (p.Met129Ile)
c.1732G>C
n.909C>G
c.2343G>C (p.Met781Ile)
c.1986G>C (p.Met662Ile)
n.3044G>C
2g.166277127C>TCA1944212SCN1A-AS1,SCN9Ac.2730G>A (p.Met910Ile)
c.2697G>A (p.Met899Ile)
c.387G>A (p.Met129Ile)
c.1732G>A
n.909C>T
c.2343G>A (p.Met781Ile)
c.1986G>A (p.Met662Ile)
n.3044G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277128A>CCA349077684SCN1A-AS1,SCN9Ac.2729T>G (p.Met910Arg)
c.2696T>G (p.Met899Arg)
c.386T>G (p.Met129Arg)
c.1731T>G
n.910A>C
c.2342T>G (p.Met781Arg)
c.1985T>G (p.Met662Arg)
n.3043T>G
2g.166277128A>GCA349077685SCN1A-AS1,SCN9Ac.2729T>C (p.Met910Thr)
c.2696T>C (p.Met899Thr)
c.386T>C (p.Met129Thr)
c.1731T>C
n.910A>G
c.2342T>C (p.Met781Thr)
c.1985T>C (p.Met662Thr)
n.3043T>C
2g.166277128A>TCA349077687SCN1A-AS1,SCN9Ac.2729T>A (p.Met910Lys)
c.2696T>A (p.Met899Lys)
c.386T>A (p.Met129Lys)
c.1731T>A
n.910A>T
c.2342T>A (p.Met781Lys)
c.1985T>A (p.Met662Lys)
n.3043T>A
2g.166277129T>ACA349077689SCN1A-AS1,SCN9Ac.2728A>T (p.Met910Leu)
c.2695A>T (p.Met899Leu)
c.385A>T (p.Met129Leu)
c.1730A>T
n.911T>A
c.2341A>T (p.Met781Leu)
c.1984A>T (p.Met662Leu)
n.3042A>T
2g.166277129T>CCA349077690SCN1A-AS1,SCN9Ac.2728A>G (p.Met910Val)
c.2695A>G (p.Met899Val)
c.385A>G (p.Met129Val)
c.1730A>G
n.911T>C
c.2341A>G (p.Met781Val)
c.1984A>G (p.Met662Val)
n.3042A>G
2g.166277129T>GCA349077692SCN1A-AS1,SCN9Ac.2728A>C (p.Met910Leu)
c.2695A>C (p.Met899Leu)
c.385A>C (p.Met129Leu)
c.1730A>C
n.911T>G
c.2341A>C (p.Met781Leu)
c.1984A>C (p.Met662Leu)
n.3042A>C
2g.166277130G>ACA1944213SCN1A-AS1,SCN9Ac.2727C>T (p.His909=)
c.2694C>T (p.His898=)
c.384C>T (p.His128=)
c.1729C>T
n.912G>A
c.2340C>T (p.His780=)
c.1983C>T (p.His661=)
n.3041C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277130G>CCA349077697SCN1A-AS1,SCN9Ac.2727C>G (p.His909Gln)
c.2694C>G (p.His898Gln)
c.384C>G (p.His128Gln)
c.1729C>G
n.912G>C
c.2340C>G (p.His780Gln)
c.1983C>G (p.His661Gln)
n.3041C>G
2g.166277130G=CA1304964930SCN1A-AS1,SCN9Ac.2727C= (p.His909=)
c.2694C= (p.His898=)
c.384C= (p.His128=)
c.1729C=
n.912G=
c.2340C= (p.His780=)
c.1983C= (p.His661=)
n.3041C=
2g.166277130G>TCA349077694SCN1A-AS1,SCN9Ac.2727C>A (p.His909Gln)
c.2694C>A (p.His898Gln)
c.384C>A (p.His128Gln)
c.1729C>A
n.912G>T
c.2340C>A (p.His780Gln)
c.1983C>A (p.His661Gln)
n.3041C>A
2g.166277131T>ACA349077699SCN1A-AS1,SCN9Ac.2726A>T (p.His909Leu)
c.2693A>T (p.His898Leu)
c.383A>T (p.His128Leu)
c.1728A>T
n.913T>A
c.2339A>T (p.His780Leu)
c.1982A>T (p.His661Leu)
n.3040A>T
2g.166277131T>CCA349077702SCN1A-AS1,SCN9Ac.2726A>G (p.His909Arg)
c.2693A>G (p.His898Arg)
c.383A>G (p.His128Arg)
c.1728A>G
n.913T>C
c.2339A>G (p.His780Arg)
c.1982A>G (p.His661Arg)
n.3040A>G
2g.166277131T>GCA349077700SCN1A-AS1,SCN9Ac.2726A>C (p.His909Pro)
c.2693A>C (p.His898Pro)
c.383A>C (p.His128Pro)
c.1728A>C
n.913T>G
c.2339A>C (p.His780Pro)
c.1982A>C (p.His661Pro)
n.3040A>C
 gnomAD v4
2g.166277132G>ACA349077705SCN1A-AS1,SCN9Ac.2725C>T (p.His909Tyr)
c.2692C>T (p.His898Tyr)
c.382C>T (p.His128Tyr)
c.1727C>T
n.914G>A
c.2338C>T (p.His780Tyr)
c.1981C>T (p.His661Tyr)
n.3039C>T
 gnomAD v4
2g.166277132G>CCA349077706SCN1A-AS1,SCN9Ac.2725C>G (p.His909Asp)
c.2692C>G (p.His898Asp)
c.382C>G (p.His128Asp)
c.1727C>G
n.914G>C
c.2338C>G (p.His780Asp)
c.1981C>G (p.His661Asp)
n.3039C>G
2g.166277132G>TCA349077708SCN1A-AS1,SCN9Ac.2725C>A (p.His909Asn)
c.2692C>A (p.His898Asn)
c.382C>A (p.His128Asn)
c.1727C>A
n.914G>T
c.2338C>A (p.His780Asn)
c.1981C>A (p.His661Asn)
n.3039C>A
2g.166277133C>ACA349077711SCN1A-AS1,SCN9Ac.2724G>T (p.Trp908Cys)
c.2691G>T (p.Trp897Cys)
c.381G>T (p.Trp127Cys)
c.1726G>T
n.915C>A
c.2337G>T (p.Trp779Cys)
c.1980G>T (p.Trp660Cys)
n.3038G>T
2g.166277133C=CA1304964942SCN1A-AS1,SCN9Ac.2724G= (p.Trp908=)
c.2691G= (p.Trp897=)
c.381G= (p.Trp127=)
c.1726G=
n.915C=
c.2337G= (p.Trp779=)
c.1980G= (p.Trp660=)
n.3038G=
2g.166277133C>GCA349077712SCN1A-AS1,SCN9Ac.2724G>C (p.Trp908Cys)
c.2691G>C (p.Trp897Cys)
c.381G>C (p.Trp127Cys)
c.1726G>C
n.915C>G
c.2337G>C (p.Trp779Cys)
c.1980G>C (p.Trp660Cys)
n.3038G>C
2g.166277133C>TCA118137SCN1A-AS1,SCN9Ac.2724G>A (p.Trp908Ter)
c.2691G>A (p.Trp897Ter)
c.381G>A (p.Trp127Ter)
c.1726G>A
n.915C>T
c.2337G>A (p.Trp779Ter)
c.1980G>A (p.Trp660Ter)
n.3038G>A
 ClinVar dbSNP gnomAD v4
2g.166277134C>ACA349077716SCN1A-AS1,SCN9Ac.2723G>T (p.Trp908Leu)
c.2690G>T (p.Trp897Leu)
c.380G>T (p.Trp127Leu)
c.1725G>T
n.916C>A
c.2336G>T (p.Trp779Leu)
c.1979G>T (p.Trp660Leu)
n.3037G>T
2g.166277134C=CA1304964952SCN1A-AS1,SCN9Ac.2723G= (p.Trp908=)
c.2690G= (p.Trp897=)
c.380G= (p.Trp127=)
c.1725G=
n.916C=
c.2336G= (p.Trp779=)
c.1979G= (p.Trp660=)
n.3037G=
2g.166277134C>GCA349077717SCN1A-AS1,SCN9Ac.2723G>C (p.Trp908Ser)
c.2690G>C (p.Trp897Ser)
c.380G>C (p.Trp127Ser)
c.1725G>C
n.916C>G
c.2336G>C (p.Trp779Ser)
c.1979G>C (p.Trp660Ser)
n.3037G>C
2g.166277134C>TCA203854SCN1A-AS1,SCN9Ac.2723G>A (p.Trp908Ter)
c.2690G>A (p.Trp897Ter)
c.380G>A (p.Trp127Ter)
c.1725G>A
n.916C>T
c.2336G>A (p.Trp779Ter)
c.1979G>A (p.Trp660Ter)
n.3037G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166277135A>CCA349077718SCN1A-AS1,SCN9Ac.2722T>G (p.Trp908Gly)
c.2689T>G (p.Trp897Gly)
c.379T>G (p.Trp127Gly)
c.1724T>G
n.917A>C
c.2335T>G (p.Trp779Gly)
c.1978T>G (p.Trp660Gly)
n.3036T>G
2g.166277135A>GCA349077719SCN1A-AS1,SCN9Ac.2722T>C (p.Trp908Arg)
c.2689T>C (p.Trp897Arg)
c.379T>C (p.Trp127Arg)
c.1724T>C
n.917A>G
c.2335T>C (p.Trp779Arg)
c.1978T>C (p.Trp660Arg)
n.3036T>C
 gnomAD v4
2g.166277135A>TCA349077720SCN1A-AS1,SCN9Ac.2722T>A (p.Trp908Arg)
c.2689T>A (p.Trp897Arg)
c.379T>A (p.Trp127Arg)
c.1724T>A
n.917A>T
c.2335T>A (p.Trp779Arg)
c.1978T>A (p.Trp660Arg)
n.3036T>A
2g.166277136C>ACA429978261SCN1A-AS1,SCN9Ac.2721G>T (p.Arg907=)
c.2688G>T (p.Arg896=)
c.378G>T (p.Arg126=)
c.1723G>T
n.918C>A
c.2334G>T (p.Arg778=)
c.1977G>T (p.Arg659=)
n.3035G>T
 dbSNP
2g.166277136C=CA1304964958SCN1A-AS1,SCN9Ac.2721G= (p.Arg907=)
c.2688G= (p.Arg896=)
c.378G= (p.Arg126=)
c.1723G=
n.918C=
c.2334G= (p.Arg778=)
c.1977G= (p.Arg659=)
n.3035G=
2g.166277136C>GCA429978262SCN1A-AS1,SCN9Ac.2721G>C (p.Arg907=)
c.2688G>C (p.Arg896=)
c.378G>C (p.Arg126=)
c.1723G>C
n.918C>G
c.2334G>C (p.Arg778=)
c.1977G>C (p.Arg659=)
n.3035G>C
2g.166277136C>TCA429978263SCN1A-AS1,SCN9Ac.2721G>A (p.Arg907=)
c.2688G>A (p.Arg896=)
c.378G>A (p.Arg126=)
c.1723G>A
n.918C>T
c.2334G>A (p.Arg778=)
c.1977G>A (p.Arg659=)
n.3035G>A
2g.166277137C>ACA349077722SCN1A-AS1,SCN9Ac.2720G>T (p.Arg907Leu)
c.2687G>T (p.Arg896Leu)
c.377G>T (p.Arg126Leu)
c.1722G>T
n.919C>A
c.2333G>T (p.Arg778Leu)
c.1976G>T (p.Arg659Leu)
n.3034G>T
2g.166277137C=CA1304964965SCN1A-AS1,SCN9Ac.2720G= (p.Arg907=)
c.2687G= (p.Arg896=)
c.377G= (p.Arg126=)
c.1722G=
n.919C=
c.2333G= (p.Arg778=)
c.1976G= (p.Arg659=)
n.3034G=
2g.166277137C>GCA349077721SCN1A-AS1,SCN9Ac.2720G>C (p.Arg907Pro)
c.2687G>C (p.Arg896Pro)
c.377G>C (p.Arg126Pro)
c.1722G>C
n.919C>G
c.2333G>C (p.Arg778Pro)
c.1976G>C (p.Arg659Pro)
n.3034G>C
2g.166277137C>TCA59794605SCN1A-AS1,SCN9Ac.2720G>A (p.Arg907Gln)
c.2687G>A (p.Arg896Gln)
c.377G>A (p.Arg126Gln)
c.1722G>A
n.919C>T
c.2333G>A (p.Arg778Gln)
c.1976G>A (p.Arg659Gln)
n.3034G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched