Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272797C>ACA349074731SCN1A-AS1,SCN9Ac.2953G>T (p.Ala985Ser)
c.2920G>T (p.Ala974Ser)
c.1877-299G>T
n.870-4291C>A
c.2566G>T (p.Ala856Ser)
c.2209G>T (p.Ala737Ser)
 gnomAD v4
2g.166272797C>GCA349074732SCN1A-AS1,SCN9Ac.2953G>C (p.Ala985Pro)
c.2920G>C (p.Ala974Pro)
c.1877-299G>C
n.870-4291C>G
c.2566G>C (p.Ala856Pro)
c.2209G>C (p.Ala737Pro)
2g.166272797C>TCA349074734SCN1A-AS1,SCN9Ac.2953G>A (p.Ala985Thr)
c.2920G>A (p.Ala974Thr)
c.1877-299G>A
n.870-4291C>T
c.2566G>A (p.Ala856Thr)
c.2209G>A (p.Ala737Thr)
 ClinVar
2g.166272798A=CA1304962874SCN1A-AS1,SCN9Ac.2952T= (p.Asp984=)
c.2919T= (p.Asp973=)
c.1877-300T=
n.870-4290A=
c.2565T= (p.Asp855=)
c.2208T= (p.Asp736=)
2g.166272798A>CCA349074737SCN1A-AS1,SCN9Ac.2952T>G (p.Asp984Glu)
c.2919T>G (p.Asp973Glu)
c.1877-300T>G
n.870-4290A>C
c.2565T>G (p.Asp855Glu)
c.2208T>G (p.Asp736Glu)
 dbSNP
2g.166272798A>GCA1944161SCN1A-AS1,SCN9Ac.2952T>C (p.Asp984=)
c.2919T>C (p.Asp973=)
c.1877-300T>C
n.870-4290A>G
c.2565T>C (p.Asp855=)
c.2208T>C (p.Asp736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272798A>TCA349074739SCN1A-AS1,SCN9Ac.2952T>A (p.Asp984Glu)
c.2919T>A (p.Asp973Glu)
c.1877-300T>A
n.870-4290A>T
c.2565T>A (p.Asp855Glu)
c.2208T>A (p.Asp736Glu)
2g.166272799T>ACA349074743SCN1A-AS1,SCN9Ac.2951A>T (p.Asp984Val)
c.2918A>T (p.Asp973Val)
c.1877-301A>T
n.870-4289T>A
c.2564A>T (p.Asp855Val)
c.2207A>T (p.Asp736Val)
n.3419A>T
2g.166272799T>CCA349074745SCN1A-AS1,SCN9Ac.2951A>G (p.Asp984Gly)
c.2918A>G (p.Asp973Gly)
c.1877-301A>G
n.870-4289T>C
c.2564A>G (p.Asp855Gly)
c.2207A>G (p.Asp736Gly)
n.3419A>G
2g.166272799T>GCA349074746SCN1A-AS1,SCN9Ac.2951A>C (p.Asp984Ala)
c.2918A>C (p.Asp973Ala)
c.1877-301A>C
n.870-4289T>G
c.2564A>C (p.Asp855Ala)
c.2207A>C (p.Asp736Ala)
n.3419A>C
2g.166272800C>ACA349074749SCN1A-AS1,SCN9Ac.2950G>T (p.Asp984Tyr)
c.2917G>T (p.Asp973Tyr)
c.1877-302G>T
n.870-4288C>A
c.2563G>T (p.Asp855Tyr)
c.2206G>T (p.Asp736Tyr)
n.3418G>T
 gnomAD v4
2g.166272800C>GCA349074751SCN1A-AS1,SCN9Ac.2950G>C (p.Asp984His)
c.2917G>C (p.Asp973His)
c.1877-302G>C
n.870-4288C>G
c.2563G>C (p.Asp855His)
c.2206G>C (p.Asp736His)
n.3418G>C
2g.166272800C>TCA349074752SCN1A-AS1,SCN9Ac.2950G>A (p.Asp984Asn)
c.2917G>A (p.Asp973Asn)
c.1877-302G>A
n.870-4288C>T
c.2563G>A (p.Asp855Asn)
c.2206G>A (p.Asp736Asn)
n.3418G>A
2g.166272801A>CCA429978118SCN1A-AS1,SCN9Ac.2949T>G (p.Pro983=)
c.2916T>G (p.Pro972=)
c.1877-303T>G
n.870-4287A>C
c.2562T>G (p.Pro854=)
c.2205T>G (p.Pro735=)
n.3417T>G
 gnomAD v4
2g.166272801A>GCA429978119SCN1A-AS1,SCN9Ac.2949T>C (p.Pro983=)
c.2916T>C (p.Pro972=)
c.1877-303T>C
n.870-4287A>G
c.2562T>C (p.Pro854=)
c.2205T>C (p.Pro735=)
n.3417T>C
2g.166272801A>TCA429978120SCN1A-AS1,SCN9Ac.2949T>A (p.Pro983=)
c.2916T>A (p.Pro972=)
c.1877-303T>A
n.870-4287A>T
c.2562T>A (p.Pro854=)
c.2205T>A (p.Pro735=)
n.3417T>A
2g.166272802G>ACA349074759SCN1A-AS1,SCN9Ac.2948C>T (p.Pro983Leu)
c.2915C>T (p.Pro972Leu)
c.1877-304C>T
n.870-4286G>A
c.2561C>T (p.Pro854Leu)
c.2204C>T (p.Pro735Leu)
n.3416C>T
 dbSNP
2g.166272802G>CCA349074755SCN1A-AS1,SCN9Ac.2948C>G (p.Pro983Arg)
c.2915C>G (p.Pro972Arg)
c.1877-304C>G
n.870-4286G>C
c.2561C>G (p.Pro854Arg)
c.2204C>G (p.Pro735Arg)
n.3416C>G
2g.166272802G=CA1304962875SCN1A-AS1,SCN9Ac.2948C= (p.Pro983=)
c.2915C= (p.Pro972=)
c.1877-304C=
n.870-4286G=
c.2561C= (p.Pro854=)
c.2204C= (p.Pro735=)
n.3416C=
2g.166272802G>TCA349074757SCN1A-AS1,SCN9Ac.2948C>A (p.Pro983His)
c.2915C>A (p.Pro972His)
c.1877-304C>A
n.870-4286G>T
c.2561C>A (p.Pro854His)
c.2204C>A (p.Pro735His)
n.3416C>A
2g.166272803G>ACA349074761SCN1A-AS1,SCN9Ac.2947C>T (p.Pro983Ser)
c.2914C>T (p.Pro972Ser)
c.1877-305C>T
n.870-4285G>A
c.2560C>T (p.Pro854Ser)
c.2203C>T (p.Pro735Ser)
n.3415C>T
 gnomAD v4 COSMIC COSMIC
2g.166272803G>CCA349074763SCN1A-AS1,SCN9Ac.2947C>G (p.Pro983Ala)
c.2914C>G (p.Pro972Ala)
c.1877-305C>G
n.870-4285G>C
c.2560C>G (p.Pro854Ala)
c.2203C>G (p.Pro735Ala)
n.3415C>G
 dbSNP
2g.166272803G=CA1304962876SCN1A-AS1,SCN9Ac.2947C= (p.Pro983=)
c.2914C= (p.Pro972=)
c.1877-305C=
n.870-4285G=
c.2560C= (p.Pro854=)
c.2203C= (p.Pro735=)
n.3415C=
2g.166272803G>TCA349074765SCN1A-AS1,SCN9Ac.2947C>A (p.Pro983Thr)
c.2914C>A (p.Pro972Thr)
c.1877-305C>A
n.870-4285G>T
c.2560C>A (p.Pro854Thr)
c.2203C>A (p.Pro735Thr)
n.3415C>A
2g.166272804G>ACA429978125SCN1A-AS1,SCN9Ac.2946C>T (p.Asp982=)
c.2913C>T (p.Asp971=)
c.1877-306C>T
n.870-4284G>A
c.2559C>T (p.Asp853=)
c.2202C>T (p.Asp734=)
n.3414C>T
 dbSNP
2g.166272804G>CCA349074767SCN1A-AS1,SCN9Ac.2946C>G (p.Asp982Glu)
c.2913C>G (p.Asp971Glu)
c.1877-306C>G
n.870-4284G>C
c.2559C>G (p.Asp853Glu)
c.2202C>G (p.Asp734Glu)
n.3414C>G
2g.166272804G=CA1304962877SCN1A-AS1,SCN9Ac.2946C= (p.Asp982=)
c.2913C= (p.Asp971=)
c.1877-306C=
n.870-4284G=
c.2559C= (p.Asp853=)
c.2202C= (p.Asp734=)
n.3414C=
2g.166272804G>TCA349074769SCN1A-AS1,SCN9Ac.2946C>A (p.Asp982Glu)
c.2913C>A (p.Asp971Glu)
c.1877-306C>A
n.870-4284G>T
c.2559C>A (p.Asp853Glu)
c.2202C>A (p.Asp734Glu)
n.3414C>A
 ClinVar
2g.166272805T>ACA349074774SCN1A-AS1,SCN9Ac.2945A>T (p.Asp982Val)
c.2912A>T (p.Asp971Val)
c.1877-307A>T
n.870-4283T>A
c.2558A>T (p.Asp853Val)
c.2201A>T (p.Asp734Val)
n.3413A>T
2g.166272805T>CCA59791822SCN1A-AS1,SCN9Ac.2945A>G (p.Asp982Gly)
c.2912A>G (p.Asp971Gly)
c.1877-307A>G
n.870-4283T>C
c.2558A>G (p.Asp853Gly)
c.2201A>G (p.Asp734Gly)
n.3413A>G
 dbSNP
2g.166272805T>GCA349074773SCN1A-AS1,SCN9Ac.2945A>C (p.Asp982Ala)
c.2912A>C (p.Asp971Ala)
c.1877-307A>C
n.870-4283T>G
c.2558A>C (p.Asp853Ala)
c.2201A>C (p.Asp734Ala)
n.3413A>C
2g.166272805T=CA1304962878SCN1A-AS1,SCN9Ac.2945A= (p.Asp982=)
c.2912A= (p.Asp971=)
c.1877-307A=
n.870-4283T=
c.2558A= (p.Asp853=)
c.2201A= (p.Asp734=)
n.3413A=
2g.166272810_166272812delCA429978126SCN1A-AS1,SCN9Ac.2943_2945del (p.Glu981del)
c.2910_2912del (p.Glu970del)
c.1877-309_1877-307del
n.870-4278_870-4276del
c.2556_2558del (p.Glu852del)
c.2199_2201del (p.Glu733del)
n.3411_3413del
 gnomAD v4
2g.166272806C>ACA349074776SCN1A-AS1,SCN9Ac.2944G>T (p.Asp982Tyr)
c.2911G>T (p.Asp971Tyr)
c.1877-308G>T
n.870-4282C>A
c.2557G>T (p.Asp853Tyr)
c.2200G>T (p.Asp734Tyr)
n.3412G>T
2g.166272806C>GCA349074778SCN1A-AS1,SCN9Ac.2944G>C (p.Asp982His)
c.2911G>C (p.Asp971His)
c.1877-308G>C
n.870-4282C>G
c.2557G>C (p.Asp853His)
c.2200G>C (p.Asp734His)
n.3412G>C
2g.166272806C>TCA349074779SCN1A-AS1,SCN9Ac.2944G>A (p.Asp982Asn)
c.2911G>A (p.Asp971Asn)
c.1877-308G>A
n.870-4282C>T
c.2557G>A (p.Asp853Asn)
c.2200G>A (p.Asp734Asn)
n.3412G>A
2g.166272807T>ACA349074782SCN1A-AS1,SCN9Ac.2943A>T (p.Glu981Asp)
c.2910A>T (p.Glu970Asp)
c.1877-309A>T
n.870-4281T>A
c.2556A>T (p.Glu852Asp)
c.2199A>T (p.Glu733Asp)
n.3411A>T
2g.166272807T>CCA429978132SCN1A-AS1,SCN9Ac.2943A>G (p.Glu981=)
c.2910A>G (p.Glu970=)
c.1877-309A>G
n.870-4281T>C
c.2556A>G (p.Glu852=)
c.2199A>G (p.Glu733=)
n.3411A>G
 gnomAD v4
2g.166272807T>GCA349074783SCN1A-AS1,SCN9Ac.2943A>C (p.Glu981Asp)
c.2910A>C (p.Glu970Asp)
c.1877-309A>C
n.870-4281T>G
c.2556A>C (p.Glu852Asp)
c.2199A>C (p.Glu733Asp)
n.3411A>C
2g.166272808T>ACA349074785SCN1A-AS1,SCN9Ac.2942A>T (p.Glu981Val)
c.2909A>T (p.Glu970Val)
c.1877-310A>T
n.870-4280T>A
c.2555A>T (p.Glu852Val)
c.2198A>T (p.Glu733Val)
n.3410A>T
2g.166272808T>CCA349074787SCN1A-AS1,SCN9Ac.2942A>G (p.Glu981Gly)
c.2909A>G (p.Glu970Gly)
c.1877-310A>G
n.870-4280T>C
c.2555A>G (p.Glu852Gly)
c.2198A>G (p.Glu733Gly)
n.3410A>G
2g.166272808T>GCA349074789SCN1A-AS1,SCN9Ac.2942A>C (p.Glu981Ala)
c.2909A>C (p.Glu970Ala)
c.1877-310A>C
n.870-4280T>G
c.2555A>C (p.Glu852Ala)
c.2198A>C (p.Glu733Ala)
n.3410A>C
2g.166272809C>ACA349074791SCN1A-AS1,SCN9Ac.2941G>T (p.Glu981Ter)
c.2908G>T (p.Glu970Ter)
c.1877-311G>T
n.870-4279C>A
c.2554G>T (p.Glu852Ter)
c.2197G>T (p.Glu733Ter)
n.3409G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272809C=CA1304962879SCN1A-AS1,SCN9Ac.2941G= (p.Glu981=)
c.2908G= (p.Glu970=)
c.1877-311G=
n.870-4279C=
c.2554G= (p.Glu852=)
c.2197G= (p.Glu733=)
n.3409G=
2g.166272809C>GCA349074793SCN1A-AS1,SCN9Ac.2941G>C (p.Glu981Gln)
c.2908G>C (p.Glu970Gln)
c.1877-311G>C
n.870-4279C>G
c.2554G>C (p.Glu852Gln)
c.2197G>C (p.Glu733Gln)
n.3409G>C
2g.166272809C>TCA349074795SCN1A-AS1,SCN9Ac.2941G>A (p.Glu981Lys)
c.2908G>A (p.Glu970Lys)
c.1877-311G>A
n.870-4279C>T
c.2554G>A (p.Glu852Lys)
c.2197G>A (p.Glu733Lys)
n.3409G>A
 COSMIC COSMIC
2g.166272810T>ACA349074796SCN1A-AS1,SCN9Ac.2940A>T (p.Glu980Asp)
c.2907A>T (p.Glu969Asp)
c.1877-312A>T
n.870-4278T>A
c.2553A>T (p.Glu851Asp)
c.2196A>T (p.Glu732Asp)
n.3408A>T
2g.166272810T>CCA429978136SCN1A-AS1,SCN9Ac.2940A>G (p.Glu980=)
c.2907A>G (p.Glu969=)
c.1877-312A>G
n.870-4278T>C
c.2553A>G (p.Glu851=)
c.2196A>G (p.Glu732=)
n.3408A>G
2g.166272810T>GCA349074798SCN1A-AS1,SCN9Ac.2940A>C (p.Glu980Asp)
c.2907A>C (p.Glu969Asp)
c.1877-312A>C
n.870-4278T>G
c.2553A>C (p.Glu851Asp)
c.2196A>C (p.Glu732Asp)
n.3408A>C
2g.166272811T>ACA349074801SCN1A-AS1,SCN9Ac.2939A>T (p.Glu980Val)
c.2906A>T (p.Glu969Val)
c.1877-313A>T
n.870-4277T>A
c.2552A>T (p.Glu851Val)
c.2195A>T (p.Glu732Val)
n.3407A>T
2g.166272811T>CCA349074804SCN1A-AS1,SCN9Ac.2939A>G (p.Glu980Gly)
c.2906A>G (p.Glu969Gly)
c.1877-313A>G
n.870-4277T>C
c.2552A>G (p.Glu851Gly)
c.2195A>G (p.Glu732Gly)
n.3407A>G
 gnomAD v4
2g.166272811T>GCA349074802SCN1A-AS1,SCN9Ac.2939A>C (p.Glu980Ala)
c.2906A>C (p.Glu969Ala)
c.1877-313A>C
n.870-4277T>G
c.2552A>C (p.Glu851Ala)
c.2195A>C (p.Glu732Ala)
n.3407A>C
2g.166272812C>ACA349074807SCN1A-AS1,SCN9Ac.2938G>T (p.Glu980Ter)
c.2905G>T (p.Glu969Ter)
c.1877-314G>T
n.870-4276C>A
c.2551G>T (p.Glu851Ter)
c.2194G>T (p.Glu732Ter)
n.3406G>T
2g.166272812C>GCA349074808SCN1A-AS1,SCN9Ac.2938G>C (p.Glu980Gln)
c.2905G>C (p.Glu969Gln)
c.1877-314G>C
n.870-4276C>G
c.2551G>C (p.Glu851Gln)
c.2194G>C (p.Glu732Gln)
n.3406G>C
2g.166272812C>TCA349074810SCN1A-AS1,SCN9Ac.2938G>A (p.Glu980Lys)
c.2905G>A (p.Glu969Lys)
c.1877-314G>A
n.870-4276C>T
c.2551G>A (p.Glu851Lys)
c.2194G>A (p.Glu732Lys)
n.3406G>A
2g.166272813A>CCA349074812SCN1A-AS1,SCN9Ac.2937T>G (p.Ile979Met)
c.2904T>G (p.Ile968Met)
c.1877-315T>G
n.870-4275A>C
c.2550T>G (p.Ile850Met)
c.2193T>G (p.Ile731Met)
n.3405T>G
2g.166272813A>GCA429978139SCN1A-AS1,SCN9Ac.2937T>C (p.Ile979=)
c.2904T>C (p.Ile968=)
c.1877-315T>C
n.870-4275A>G
c.2550T>C (p.Ile850=)
c.2193T>C (p.Ile731=)
n.3405T>C
2g.166272813A>TCA429978142SCN1A-AS1,SCN9Ac.2937T>A (p.Ile979=)
c.2904T>A (p.Ile968=)
c.1877-315T>A
n.870-4275A>T
c.2550T>A (p.Ile850=)
c.2193T>A (p.Ile731=)
n.3405T>A
2g.166272814A>CCA349074815SCN1A-AS1,SCN9Ac.2936T>G (p.Ile979Ser)
c.2903T>G (p.Ile968Ser)
c.1877-316T>G
n.870-4274A>C
c.2549T>G (p.Ile850Ser)
c.2192T>G (p.Ile731Ser)
n.3404T>G
2g.166272814A>GCA349074817SCN1A-AS1,SCN9Ac.2936T>C (p.Ile979Thr)
c.2903T>C (p.Ile968Thr)
c.1877-316T>C
n.870-4274A>G
c.2549T>C (p.Ile850Thr)
c.2192T>C (p.Ile731Thr)
n.3404T>C
2g.166272814A>TCA349074819SCN1A-AS1,SCN9Ac.2936T>A (p.Ile979Asn)
c.2903T>A (p.Ile968Asn)
c.1877-316T>A
n.870-4274A>T
c.2549T>A (p.Ile850Asn)
c.2192T>A (p.Ile731Asn)
n.3404T>A
2g.166272815T>ACA349074821SCN1A-AS1,SCN9Ac.2935A>T (p.Ile979Phe)
c.2902A>T (p.Ile968Phe)
c.1877-317A>T
n.870-4273T>A
c.2548A>T (p.Ile850Phe)
c.2191A>T (p.Ile731Phe)
n.3403A>T
2g.166272815T>CCA349074822SCN1A-AS1,SCN9Ac.2935A>G (p.Ile979Val)
c.2902A>G (p.Ile968Val)
c.1877-317A>G
n.870-4273T>C
c.2548A>G (p.Ile850Val)
c.2191A>G (p.Ile731Val)
n.3403A>G
2g.166272815T>GCA349074823SCN1A-AS1,SCN9Ac.2935A>C (p.Ile979Leu)
c.2902A>C (p.Ile968Leu)
c.1877-317A>C
n.870-4273T>G
c.2548A>C (p.Ile850Leu)
c.2191A>C (p.Ile731Leu)
n.3403A>C
2g.166272816T>ACA429978150SCN1A-AS1,SCN9Ac.2934A>T (p.Ala978=)
c.2901A>T (p.Ala967=)
c.1877-318A>T
n.870-4272T>A
c.2547A>T (p.Ala849=)
c.2190A>T (p.Ala730=)
n.3402A>T
2g.166272816T>CCA429978146SCN1A-AS1,SCN9Ac.2934A>G (p.Ala978=)
c.2901A>G (p.Ala967=)
c.1877-318A>G
n.870-4272T>C
c.2547A>G (p.Ala849=)
c.2190A>G (p.Ala730=)
n.3402A>G
2g.166272816T>GCA429978147SCN1A-AS1,SCN9Ac.2934A>C (p.Ala978=)
c.2901A>C (p.Ala967=)
c.1877-318A>C
n.870-4272T>G
c.2547A>C (p.Ala849=)
c.2190A>C (p.Ala730=)
n.3402A>C
2g.166272817G>ACA349074825SCN1A-AS1,SCN9Ac.2933C>T (p.Ala978Val)
c.2900C>T (p.Ala967Val)
c.1877-319C>T
n.870-4271G>A
c.2546C>T (p.Ala849Val)
c.2189C>T (p.Ala730Val)
n.3401C>T
2g.166272817G>CCA349074827SCN1A-AS1,SCN9Ac.2933C>G (p.Ala978Gly)
c.2900C>G (p.Ala967Gly)
c.1877-319C>G
n.870-4271G>C
c.2546C>G (p.Ala849Gly)
c.2189C>G (p.Ala730Gly)
n.3401C>G
2g.166272817G>TCA349074829SCN1A-AS1,SCN9Ac.2933C>A (p.Ala978Glu)
c.2900C>A (p.Ala967Glu)
c.1877-319C>A
n.870-4271G>T
c.2546C>A (p.Ala849Glu)
c.2189C>A (p.Ala730Glu)
n.3401C>A
2g.166272818C>ACA349074831SCN1A-AS1,SCN9Ac.2932G>T (p.Ala978Ser)
c.2899G>T (p.Ala967Ser)
c.1877-320G>T
n.870-4270C>A
c.2545G>T (p.Ala849Ser)
c.2188G>T (p.Ala730Ser)
n.3400G>T
2g.166272818C=CA1304962880SCN1A-AS1,SCN9Ac.2932G= (p.Ala978=)
c.2899G= (p.Ala967=)
c.1877-320G=
n.870-4270C=
c.2545G= (p.Ala849=)
c.2188G= (p.Ala730=)
n.3400G=
2g.166272818C>GCA349074835SCN1A-AS1,SCN9Ac.2932G>C (p.Ala978Pro)
c.2899G>C (p.Ala967Pro)
c.1877-320G>C
n.870-4270C>G
c.2545G>C (p.Ala849Pro)
c.2188G>C (p.Ala730Pro)
n.3400G>C
2g.166272818C>TCA349074833SCN1A-AS1,SCN9Ac.2932G>A (p.Ala978Thr)
c.2899G>A (p.Ala967Thr)
c.1877-320G>A
n.870-4270C>T
c.2545G>A (p.Ala849Thr)
c.2188G>A (p.Ala730Thr)
n.3400G>A
 dbSNP gnomAD v2
2g.166272819T>ACA429978153SCN1A-AS1,SCN9Ac.2931A>T (p.Thr977=)
c.2898A>T (p.Thr966=)
c.1877-321A>T
n.870-4269T>A
c.2544A>T (p.Thr848=)
c.2187A>T (p.Thr729=)
n.3399A>T
2g.166272819T>CCA429978154SCN1A-AS1,SCN9Ac.2931A>G (p.Thr977=)
c.2898A>G (p.Thr966=)
c.1877-321A>G
n.870-4269T>C
c.2544A>G (p.Thr848=)
c.2187A>G (p.Thr729=)
n.3399A>G
 ClinVar dbSNP
2g.166272819T>GCA1944162SCN1A-AS1,SCN9Ac.2931A>C (p.Thr977=)
c.2898A>C (p.Thr966=)
c.1877-321A>C
n.870-4269T>G
c.2544A>C (p.Thr848=)
c.2187A>C (p.Thr729=)
n.3399A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272819T=CA1304962881SCN1A-AS1,SCN9Ac.2931A= (p.Thr977=)
c.2898A= (p.Thr966=)
c.1877-321A=
n.870-4269T=
c.2544A= (p.Thr848=)
c.2187A= (p.Thr729=)
n.3399A=
2g.166272820G>ACA349074839SCN1A-AS1,SCN9Ac.2930C>T (p.Thr977Ile)
c.2897C>T (p.Thr966Ile)
c.1877-322C>T
n.870-4268G>A
c.2543C>T (p.Thr848Ile)
c.2186C>T (p.Thr729Ile)
n.3398C>T
2g.166272820G>CCA349074841SCN1A-AS1,SCN9Ac.2930C>G (p.Thr977Arg)
c.2897C>G (p.Thr966Arg)
c.1877-322C>G
n.870-4268G>C
c.2543C>G (p.Thr848Arg)
c.2186C>G (p.Thr729Arg)
n.3398C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272820G=CA1304962882SCN1A-AS1,SCN9Ac.2930C= (p.Thr977=)
c.2897C= (p.Thr966=)
c.1877-322C=
n.870-4268G=
c.2543C= (p.Thr848=)
c.2186C= (p.Thr729=)
n.3398C=
2g.166272820G>TCA349074843SCN1A-AS1,SCN9Ac.2930C>A (p.Thr977Lys)
c.2897C>A (p.Thr966Lys)
c.1877-322C>A
n.870-4268G>T
c.2543C>A (p.Thr848Lys)
c.2186C>A (p.Thr729Lys)
n.3398C>A
 dbSNP gnomAD v3 gnomAD v4
2g.166272821T>ACA349074845SCN1A-AS1,SCN9Ac.2929A>T (p.Thr977Ser)
c.2896A>T (p.Thr966Ser)
c.1877-323A>T
n.870-4267T>A
c.2542A>T (p.Thr848Ser)
c.2185A>T (p.Thr729Ser)
n.3397A>T
2g.166272821T>CCA349074847SCN1A-AS1,SCN9Ac.2929A>G (p.Thr977Ala)
c.2896A>G (p.Thr966Ala)
c.1877-323A>G
n.870-4267T>C
c.2542A>G (p.Thr848Ala)
c.2185A>G (p.Thr729Ala)
n.3397A>G
2g.166272821T>GCA349074849SCN1A-AS1,SCN9Ac.2929A>C (p.Thr977Pro)
c.2896A>C (p.Thr966Pro)
c.1877-323A>C
n.870-4267T>G
c.2542A>C (p.Thr848Pro)
c.2185A>C (p.Thr729Pro)
n.3397A>C
2g.166272822A=CA1304962883SCN1A-AS1,SCN9Ac.2928T= (p.Leu976=)
c.2895T= (p.Leu965=)
c.1877-324T=
n.870-4266A=
c.2541T= (p.Leu847=)
c.2184T= (p.Leu728=)
n.3396T=
2g.166272822A>CCA429978157SCN1A-AS1,SCN9Ac.2928T>G (p.Leu976=)
c.2895T>G (p.Leu965=)
c.1877-324T>G
n.870-4266A>C
c.2541T>G (p.Leu847=)
c.2184T>G (p.Leu728=)
n.3396T>G
2g.166272822A>GCA1944163SCN1A-AS1,SCN9Ac.2928T>C (p.Leu976=)
c.2895T>C (p.Leu965=)
c.1877-324T>C
n.870-4266A>G
c.2541T>C (p.Leu847=)
c.2184T>C (p.Leu728=)
n.3396T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272822A>TCA429978156SCN1A-AS1,SCN9Ac.2928T>A (p.Leu976=)
c.2895T>A (p.Leu965=)
c.1877-324T>A
n.870-4266A>T
c.2541T>A (p.Leu847=)
c.2184T>A (p.Leu728=)
n.3396T>A
2g.166272823A>CCA349074851SCN1A-AS1,SCN9Ac.2927T>G (p.Leu976Arg)
c.2894T>G (p.Leu965Arg)
c.1877-325T>G
n.870-4265A>C
c.2540T>G (p.Leu847Arg)
c.2183T>G (p.Leu728Arg)
n.3395T>G
2g.166272823A>GCA349074853SCN1A-AS1,SCN9Ac.2927T>C (p.Leu976Pro)
c.2894T>C (p.Leu965Pro)
c.1877-325T>C
n.870-4265A>G
c.2540T>C (p.Leu847Pro)
c.2183T>C (p.Leu728Pro)
n.3395T>C
2g.166272823A>TCA349074855SCN1A-AS1,SCN9Ac.2927T>A (p.Leu976His)
c.2894T>A (p.Leu965His)
c.1877-325T>A
n.870-4265A>T
c.2540T>A (p.Leu847His)
c.2183T>A (p.Leu728His)
n.3395T>A
2g.166272824G>ACA349074860SCN1A-AS1,SCN9Ac.2926C>T (p.Leu976Phe)
c.2893C>T (p.Leu965Phe)
c.1877-326C>T
n.870-4264G>A
c.2539C>T (p.Leu847Phe)
c.2182C>T (p.Leu728Phe)
n.3394C>T
2g.166272824G>CCA349074862SCN1A-AS1,SCN9Ac.2926C>G (p.Leu976Val)
c.2893C>G (p.Leu965Val)
c.1877-326C>G
n.870-4264G>C
c.2539C>G (p.Leu847Val)
c.2182C>G (p.Leu728Val)
n.3394C>G
2g.166272824G>TCA349074857SCN1A-AS1,SCN9Ac.2926C>A (p.Leu976Ile)
c.2893C>A (p.Leu965Ile)
c.1877-326C>A
n.870-4264G>T
c.2539C>A (p.Leu847Ile)
c.2182C>A (p.Leu728Ile)
n.3394C>A
2g.166272825A>CCA349074866SCN1A-AS1,SCN9Ac.2925T>G (p.Asn975Lys)
c.2892T>G (p.Asn964Lys)
c.1877-327T>G
n.870-4263A>C
c.2538T>G (p.Asn846Lys)
c.2181T>G (p.Asn727Lys)
n.3393T>G
2g.166272825A>GCA429978160SCN1A-AS1,SCN9Ac.2925T>C (p.Asn975=)
c.2892T>C (p.Asn964=)
c.1877-327T>C
n.870-4263A>G
c.2538T>C (p.Asn846=)
c.2181T>C (p.Asn727=)
n.3393T>C
 gnomAD v4
2g.166272825A>TCA349074864SCN1A-AS1,SCN9Ac.2925T>A (p.Asn975Lys)
c.2892T>A (p.Asn964Lys)
c.1877-327T>A
n.870-4263A>T
c.2538T>A (p.Asn846Lys)
c.2181T>A (p.Asn727Lys)
n.3393T>A
2g.166272826T>ACA349074869SCN1A-AS1,SCN9Ac.2924A>T (p.Asn975Ile)
c.2891A>T (p.Asn964Ile)
c.1877-328A>T
n.870-4262T>A
c.2537A>T (p.Asn846Ile)
c.2180A>T (p.Asn727Ile)
n.3392A>T
2g.166272826T>CCA1944164SCN1A-AS1,SCN9Ac.2924A>G (p.Asn975Ser)
c.2891A>G (p.Asn964Ser)
c.1877-328A>G
n.870-4262T>C
c.2537A>G (p.Asn846Ser)
c.2180A>G (p.Asn727Ser)
n.3392A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272826T>GCA349074871SCN1A-AS1,SCN9Ac.2924A>C (p.Asn975Thr)
c.2891A>C (p.Asn964Thr)
c.1877-328A>C
n.870-4262T>G
c.2537A>C (p.Asn846Thr)
c.2180A>C (p.Asn727Thr)
n.3392A>C
 dbSNP
2g.166272826T=CA1304962884SCN1A-AS1,SCN9Ac.2924A= (p.Asn975=)
c.2891A= (p.Asn964=)
c.1877-328A=
n.870-4262T=
c.2537A= (p.Asn846=)
c.2180A= (p.Asn727=)
n.3392A=
2g.166272827T>ACA349074873SCN1A-AS1,SCN9Ac.2923A>T (p.Asn975Tyr)
c.2890A>T (p.Asn964Tyr)
c.1877-329A>T
n.870-4261T>A
c.2536A>T (p.Asn846Tyr)
c.2179A>T (p.Asn727Tyr)
n.3391A>T
 ClinVar dbSNP gnomAD v4
2g.166272827T>CCA349074877SCN1A-AS1,SCN9Ac.2923A>G (p.Asn975Asp)
c.2890A>G (p.Asn964Asp)
c.1877-329A>G
n.870-4261T>C
c.2536A>G (p.Asn846Asp)
c.2179A>G (p.Asn727Asp)
n.3391A>G
2g.166272827T>GCA349074875SCN1A-AS1,SCN9Ac.2923A>C (p.Asn975His)
c.2890A>C (p.Asn964His)
c.1877-329A>C
n.870-4261T>G
c.2536A>C (p.Asn846His)
c.2179A>C (p.Asn727His)
n.3391A>C
2g.166272827_166272828delinsTGCA1304962885SCN1A-AS1,SCN9Ac.2922_2923delinsCA (p.Asp974=)
c.2889_2890delinsCA (p.Asp963=)
c.1877-330_1877-329delinsCA
n.870-4261_870-4260delinsTG
c.2535_2536delinsCA (p.Asp845=)
c.2178_2179delinsCA (p.Asp726=)
n.3390_3391delinsCA
2g.166272828delCA1304962886SCN1A-AS1,SCN9Ac.2922del (p.Asp974GlufsTer19)
c.2889del (p.Asp963GlufsTer19)
c.1877-330del
n.870-4260del
c.2535del (p.Asp845GlufsTer19)
c.2178del (p.Asp726GlufsTer19)
n.3390del
 dbSNP
2g.166272828G>ACA429978162SCN1A-AS1,SCN9Ac.2922C>T (p.Asp974=)
c.2889C>T (p.Asp963=)
c.1877-330C>T
n.870-4260G>A
c.2535C>T (p.Asp845=)
c.2178C>T (p.Asp726=)
n.3390C>T
2g.166272828G>CCA1944165SCN1A-AS1,SCN9Ac.2922C>G (p.Asp974Glu)
c.2889C>G (p.Asp963Glu)
c.1877-330C>G
n.870-4260G>C
c.2535C>G (p.Asp845Glu)
c.2178C>G (p.Asp726Glu)
n.3390C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272828G=CA1304962887SCN1A-AS1,SCN9Ac.2922C= (p.Asp974=)
c.2889C= (p.Asp963=)
c.1877-330C=
n.870-4260G=
c.2535C= (p.Asp845=)
c.2178C= (p.Asp726=)
n.3390C=
2g.166272828G>TCA59791845SCN1A-AS1,SCN9Ac.2922C>A (p.Asp974Glu)
c.2889C>A (p.Asp963Glu)
c.1877-330C>A
n.870-4260G>T
c.2535C>A (p.Asp845Glu)
c.2178C>A (p.Asp726Glu)
n.3390C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272829T>ACA349074882SCN1A-AS1,SCN9Ac.2921A>T (p.Asp974Val)
c.2888A>T (p.Asp963Val)
c.1877-331A>T
n.870-4259T>A
c.2534A>T (p.Asp845Val)
c.2177A>T (p.Asp726Val)
n.3389A>T
2g.166272829T>CCA349074884SCN1A-AS1,SCN9Ac.2921A>G (p.Asp974Gly)
c.2888A>G (p.Asp963Gly)
c.1877-331A>G
n.870-4259T>C
c.2534A>G (p.Asp845Gly)
c.2177A>G (p.Asp726Gly)
n.3389A>G
 gnomAD v4
2g.166272829T>GCA349074886SCN1A-AS1,SCN9Ac.2921A>C (p.Asp974Ala)
c.2888A>C (p.Asp963Ala)
c.1877-331A>C
n.870-4259T>G
c.2534A>C (p.Asp845Ala)
c.2177A>C (p.Asp726Ala)
n.3389A>C
2g.166272830C>ACA349074888SCN1A-AS1,SCN9Ac.2920G>T (p.Asp974Tyr)
c.2887G>T (p.Asp963Tyr)
c.1877-332G>T
n.870-4258C>A
c.2533G>T (p.Asp845Tyr)
c.2176G>T (p.Asp726Tyr)
n.3388G>T
2g.166272830C>GCA349074890SCN1A-AS1,SCN9Ac.2920G>C (p.Asp974His)
c.2887G>C (p.Asp963His)
c.1877-332G>C
n.870-4258C>G
c.2533G>C (p.Asp845His)
c.2176G>C (p.Asp726His)
n.3388G>C
2g.166272830C>TCA349074892SCN1A-AS1,SCN9Ac.2920G>A (p.Asp974Asn)
c.2887G>A (p.Asp963Asn)
c.1877-332G>A
n.870-4258C>T
c.2533G>A (p.Asp845Asn)
c.2176G>A (p.Asp726Asn)
n.3388G>A
2g.166272831T>ACA429978163SCN1A-AS1,SCN9Ac.2919A>T (p.Ser973=)
c.2886A>T (p.Ser962=)
c.1877-333A>T
n.870-4257T>A
c.2532A>T (p.Ser844=)
c.2175A>T (p.Ser725=)
n.3387A>T
2g.166272831T>CCA429978164SCN1A-AS1,SCN9Ac.2919A>G (p.Ser973=)
c.2886A>G (p.Ser962=)
c.1877-333A>G
n.870-4257T>C
c.2532A>G (p.Ser844=)
c.2175A>G (p.Ser725=)
n.3387A>G
2g.166272831T>GCA429978165SCN1A-AS1,SCN9Ac.2919A>C (p.Ser973=)
c.2886A>C (p.Ser962=)
c.1877-333A>C
n.870-4257T>G
c.2532A>C (p.Ser844=)
c.2175A>C (p.Ser725=)
n.3387A>C
2g.166272832G>ACA349074894SCN1A-AS1,SCN9Ac.2918C>T (p.Ser973Leu)
c.2885C>T (p.Ser962Leu)
c.1877-334C>T
n.870-4256G>A
c.2531C>T (p.Ser844Leu)
c.2174C>T (p.Ser725Leu)
n.3386C>T
2g.166272832G>CCA349074895SCN1A-AS1,SCN9Ac.2918C>G (p.Ser973Ter)
c.2885C>G (p.Ser962Ter)
c.1877-334C>G
n.870-4256G>C
c.2531C>G (p.Ser844Ter)
c.2174C>G (p.Ser725Ter)
n.3386C>G
2g.166272832G>TCA349074897SCN1A-AS1,SCN9Ac.2918C>A (p.Ser973Ter)
c.2885C>A (p.Ser962Ter)
c.1877-334C>A
n.870-4256G>T
c.2531C>A (p.Ser844Ter)
c.2174C>A (p.Ser725Ter)
n.3386C>A
 gnomAD v4
2g.166272833A>CCA349074900SCN1A-AS1,SCN9Ac.2917T>G (p.Ser973Ala)
c.2884T>G (p.Ser962Ala)
c.1877-335T>G
n.870-4255A>C
c.2530T>G (p.Ser844Ala)
c.2173T>G (p.Ser725Ala)
n.3385T>G
2g.166272833A>GCA349074901SCN1A-AS1,SCN9Ac.2917T>C (p.Ser973Pro)
c.2884T>C (p.Ser962Pro)
c.1877-335T>C
n.870-4255A>G
c.2530T>C (p.Ser844Pro)
c.2173T>C (p.Ser725Pro)
n.3385T>C
2g.166272833A>TCA349074903SCN1A-AS1,SCN9Ac.2917T>A (p.Ser973Thr)
c.2884T>A (p.Ser962Thr)
c.1877-335T>A
n.870-4255A>T
c.2530T>A (p.Ser844Thr)
c.2173T>A (p.Ser725Thr)
n.3385T>A
2g.166272834A=CA1304962888SCN1A-AS1,SCN9Ac.2916T= (p.Ser972=)
c.2883T= (p.Ser961=)
c.1877-336T=
n.870-4254A=
c.2529T= (p.Ser843=)
c.2172T= (p.Ser724=)
n.3384T=
2g.166272834A>CCA349074908SCN1A-AS1,SCN9Ac.2916T>G (p.Ser972Arg)
c.2883T>G (p.Ser961Arg)
c.1877-336T>G
n.870-4254A>C
c.2529T>G (p.Ser843Arg)
c.2172T>G (p.Ser724Arg)
n.3384T>G
2g.166272834A>GCA10611656SCN1A-AS1,SCN9Ac.2916T>C (p.Ser972=)
c.2883T>C (p.Ser961=)
c.1877-336T>C
n.870-4254A>G
c.2529T>C (p.Ser843=)
c.2172T>C (p.Ser724=)
n.3384T>C
 ClinVar dbSNP
2g.166272834A>TCA349074906SCN1A-AS1,SCN9Ac.2916T>A (p.Ser972Arg)
c.2883T>A (p.Ser961Arg)
c.1877-336T>A
n.870-4254A>T
c.2529T>A (p.Ser843Arg)
c.2172T>A (p.Ser724Arg)
n.3384T>A
2g.166272835C>ACA349074911SCN1A-AS1,SCN9Ac.2915G>T (p.Ser972Ile)
c.2882G>T (p.Ser961Ile)
c.1877-337G>T
n.870-4253C>A
c.2528G>T (p.Ser843Ile)
c.2171G>T (p.Ser724Ile)
n.3383G>T
2g.166272835C>GCA349074912SCN1A-AS1,SCN9Ac.2915G>C (p.Ser972Thr)
c.2882G>C (p.Ser961Thr)
c.1877-337G>C
n.870-4253C>G
c.2528G>C (p.Ser843Thr)
c.2171G>C (p.Ser724Thr)
n.3383G>C
2g.166272835C>TCA349074913SCN1A-AS1,SCN9Ac.2915G>A (p.Ser972Asn)
c.2882G>A (p.Ser961Asn)
c.1877-337G>A
n.870-4253C>T
c.2528G>A (p.Ser843Asn)
c.2171G>A (p.Ser724Asn)
n.3383G>A
 ClinVar dbSNP gnomAD v4
2g.166272836delCA2577144948SCN1A-AS1,SCN9Ac.2914del (p.Ser972ValfsTer21)
c.2881del (p.Ser961ValfsTer21)
c.1877-338del
n.870-4252del
c.2527del (p.Ser843ValfsTer21)
c.2170del (p.Ser724ValfsTer21)
n.3382del
2g.166272836T>ACA349074914SCN1A-AS1,SCN9Ac.2914A>T (p.Ser972Cys)
c.2881A>T (p.Ser961Cys)
c.1877-338A>T
n.870-4252T>A
c.2527A>T (p.Ser843Cys)
c.2170A>T (p.Ser724Cys)
n.3382A>T
2g.166272836T>CCA349074916SCN1A-AS1,SCN9Ac.2914A>G (p.Ser972Gly)
c.2881A>G (p.Ser961Gly)
c.1877-338A>G
n.870-4252T>C
c.2527A>G (p.Ser843Gly)
c.2170A>G (p.Ser724Gly)
n.3382A>G
2g.166272836T>GCA349074918SCN1A-AS1,SCN9Ac.2914A>C (p.Ser972Arg)
c.2881A>C (p.Ser961Arg)
c.1877-338A>C
n.870-4252T>G
c.2527A>C (p.Ser843Arg)
c.2170A>C (p.Ser724Arg)
n.3382A>C
2g.166272837A>CCA349074920SCN1A-AS1,SCN9Ac.2913T>G (p.Phe971Leu)
c.2880T>G (p.Phe960Leu)
c.1877-339T>G
n.870-4251A>C
c.2526T>G (p.Phe842Leu)
c.2169T>G (p.Phe723Leu)
n.3381T>G
2g.166272837A>GCA429978168SCN1A-AS1,SCN9Ac.2913T>C (p.Phe971=)
c.2880T>C (p.Phe960=)
c.1877-339T>C
n.870-4251A>G
c.2526T>C (p.Phe842=)
c.2169T>C (p.Phe723=)
n.3381T>C
2g.166272837A>TCA349074921SCN1A-AS1,SCN9Ac.2913T>A (p.Phe971Leu)
c.2880T>A (p.Phe960Leu)
c.1877-339T>A
n.870-4251A>T
c.2526T>A (p.Phe842Leu)
c.2169T>A (p.Phe723Leu)
n.3381T>A
2g.166272839delCA2661766692SCN1A-AS1,SCN9Ac.2913del (p.Phe971LeufsTer22)
c.2880del (p.Phe960LeufsTer22)
c.1877-339del
n.870-4249del
c.2526del (p.Phe842LeufsTer22)
c.2169del (p.Phe723LeufsTer22)
n.3381del
 gnomAD v4
2g.166272838A>CCA349074923SCN1A-AS1,SCN9Ac.2912T>G (p.Phe971Cys)
c.2879T>G (p.Phe960Cys)
c.1877-340T>G
n.870-4250A>C
c.2525T>G (p.Phe842Cys)
c.2168T>G (p.Phe723Cys)
n.3380T>G
2g.166272838A>GCA349074925SCN1A-AS1,SCN9Ac.2912T>C (p.Phe971Ser)
c.2879T>C (p.Phe960Ser)
c.1877-340T>C
n.870-4250A>G
c.2525T>C (p.Phe842Ser)
c.2168T>C (p.Phe723Ser)
n.3380T>C
2g.166272838A>TCA349074927SCN1A-AS1,SCN9Ac.2912T>A (p.Phe971Tyr)
c.2879T>A (p.Phe960Tyr)
c.1877-340T>A
n.870-4250A>T
c.2525T>A (p.Phe842Tyr)
c.2168T>A (p.Phe723Tyr)
n.3380T>A
2g.166272839A>CCA349074932SCN1A-AS1,SCN9Ac.2911T>G (p.Phe971Val)
c.2878T>G (p.Phe960Val)
c.1877-341T>G
n.870-4249A>C
c.2524T>G (p.Phe842Val)
c.2167T>G (p.Phe723Val)
n.3379T>G
2g.166272839A>GCA349074931SCN1A-AS1,SCN9Ac.2911T>C (p.Phe971Leu)
c.2878T>C (p.Phe960Leu)
c.1877-341T>C
n.870-4249A>G
c.2524T>C (p.Phe842Leu)
c.2167T>C (p.Phe723Leu)
n.3379T>C
2g.166272839A>TCA349074929SCN1A-AS1,SCN9Ac.2911T>A (p.Phe971Ile)
c.2878T>A (p.Phe960Ile)
c.1877-341T>A
n.870-4249A>T
c.2524T>A (p.Phe842Ile)
c.2167T>A (p.Phe723Ile)
n.3379T>A
2g.166272840T>ACA429978170SCN1A-AS1,SCN9Ac.2910A>T (p.Ser970=)
c.2877A>T (p.Ser959=)
c.1877-342A>T
n.870-4248T>A
c.2523A>T (p.Ser841=)
c.2166A>T (p.Ser722=)
n.3378A>T
2g.166272840T>CCA429978171SCN1A-AS1,SCN9Ac.2910A>G (p.Ser970=)
c.2877A>G (p.Ser959=)
c.1877-342A>G
n.870-4248T>C
c.2523A>G (p.Ser841=)
c.2166A>G (p.Ser722=)
n.3378A>G
 gnomAD v4
2g.166272840T>GCA429978172SCN1A-AS1,SCN9Ac.2910A>C (p.Ser970=)
c.2877A>C (p.Ser959=)
c.1877-342A>C
n.870-4248T>G
c.2523A>C (p.Ser841=)
c.2166A>C (p.Ser722=)
n.3378A>C
 gnomAD v4
2g.166272841G>ACA349074934SCN1A-AS1,SCN9Ac.2909C>T (p.Ser970Leu)
c.2876C>T (p.Ser959Leu)
c.1877-343C>T
n.870-4247G>A
c.2522C>T (p.Ser841Leu)
c.2165C>T (p.Ser722Leu)
n.3377C>T
 ClinVar dbSNP
2g.166272841G>CCA349074936SCN1A-AS1,SCN9Ac.2909C>G (p.Ser970Ter)
c.2876C>G (p.Ser959Ter)
c.1877-343C>G
n.870-4247G>C
c.2522C>G (p.Ser841Ter)
c.2165C>G (p.Ser722Ter)
n.3377C>G
2g.166272841G>TCA349074938SCN1A-AS1,SCN9Ac.2909C>A (p.Ser970Ter)
c.2876C>A (p.Ser959Ter)
c.1877-343C>A
n.870-4247G>T
c.2522C>A (p.Ser841Ter)
c.2165C>A (p.Ser722Ter)
n.3377C>A
2g.166272842A>CCA349074940SCN1A-AS1,SCN9Ac.2908T>G (p.Ser970Ala)
c.2875T>G (p.Ser959Ala)
c.1877-344T>G
n.870-4246A>C
c.2521T>G (p.Ser841Ala)
c.2164T>G (p.Ser722Ala)
n.3376T>G
2g.166272842A>GCA349074942SCN1A-AS1,SCN9Ac.2908T>C (p.Ser970Pro)
c.2875T>C (p.Ser959Pro)
c.1877-344T>C
n.870-4246A>G
c.2521T>C (p.Ser841Pro)
c.2164T>C (p.Ser722Pro)
n.3376T>C
2g.166272842A>TCA349074943SCN1A-AS1,SCN9Ac.2908T>A (p.Ser970Thr)
c.2875T>A (p.Ser959Thr)
c.1877-344T>A
n.870-4246A>T
c.2521T>A (p.Ser841Thr)
c.2164T>A (p.Ser722Thr)
n.3376T>A
2g.166272843G>ACA429978173SCN1A-AS1,SCN9Ac.2907C>T (p.Ser969=)
c.2874C>T (p.Ser958=)
c.1877-345C>T
n.870-4245G>A
c.2520C>T (p.Ser840=)
c.2163C>T (p.Ser721=)
n.3375C>T
2g.166272843G>CCA349074946SCN1A-AS1,SCN9Ac.2907C>G (p.Ser969Arg)
c.2874C>G (p.Ser958Arg)
c.1877-345C>G
n.870-4245G>C
c.2520C>G (p.Ser840Arg)
c.2163C>G (p.Ser721Arg)
n.3375C>G
 gnomAD v4
2g.166272843G>TCA349074948SCN1A-AS1,SCN9Ac.2907C>A (p.Ser969Arg)
c.2874C>A (p.Ser958Arg)
c.1877-345C>A
n.870-4245G>T
c.2520C>A (p.Ser840Arg)
c.2163C>A (p.Ser721Arg)
n.3375C>A
2g.166272844C>ACA349074949SCN1A-AS1,SCN9Ac.2906G>T (p.Ser969Ile)
c.2873G>T (p.Ser958Ile)
c.1877-346G>T
n.870-4244C>A
c.2519G>T (p.Ser840Ile)
c.2162G>T (p.Ser721Ile)
n.3374G>T
2g.166272844C=CA1304962889SCN1A-AS1,SCN9Ac.2906G= (p.Ser969=)
c.2873G= (p.Ser958=)
c.1877-346G=
n.870-4244C=
c.2519G= (p.Ser840=)
c.2162G= (p.Ser721=)
n.3374G=
2g.166272844C>GCA349074950SCN1A-AS1,SCN9Ac.2906G>C (p.Ser969Thr)
c.2873G>C (p.Ser958Thr)
c.1877-346G>C
n.870-4244C>G
c.2519G>C (p.Ser840Thr)
c.2162G>C (p.Ser721Thr)
n.3374G>C
 ClinVar dbSNP gnomAD v4
2g.166272844C>TCA349074953SCN1A-AS1,SCN9Ac.2906G>A (p.Ser969Asn)
c.2873G>A (p.Ser958Asn)
c.1877-346G>A
n.870-4244C>T
c.2519G>A (p.Ser840Asn)
c.2162G>A (p.Ser721Asn)
n.3374G>A
2g.166272845T>ACA349074955SCN1A-AS1,SCN9Ac.2905A>T (p.Ser969Cys)
c.2872A>T (p.Ser958Cys)
c.1877-347A>T
n.870-4243T>A
c.2518A>T (p.Ser840Cys)
c.2161A>T (p.Ser721Cys)
n.3373A>T
2g.166272845T>CCA349074957SCN1A-AS1,SCN9Ac.2905A>G (p.Ser969Gly)
c.2872A>G (p.Ser958Gly)
c.1877-347A>G
n.870-4243T>C
c.2518A>G (p.Ser840Gly)
c.2161A>G (p.Ser721Gly)
n.3373A>G
2g.166272845T>GCA349074959SCN1A-AS1,SCN9Ac.2905A>C (p.Ser969Arg)
c.2872A>C (p.Ser958Arg)
c.1877-347A>C
n.870-4243T>G
c.2518A>C (p.Ser840Arg)
c.2161A>C (p.Ser721Arg)
n.3373A>C
2g.166272846C>ACA1944166SCN1A-AS1,SCN9Ac.2904G>T (p.Leu968Phe)
c.2871G>T (p.Leu957Phe)
c.1877-348G>T
n.870-4242C>A
c.2517G>T (p.Leu839Phe)
c.2160G>T (p.Leu720Phe)
n.3372G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272846C=CA1304962890SCN1A-AS1,SCN9Ac.2904G= (p.Leu968=)
c.2871G= (p.Leu957=)
c.1877-348G=
n.870-4242C=
c.2517G= (p.Leu839=)
c.2160G= (p.Leu720=)
n.3372G=
2g.166272846C>GCA349074961SCN1A-AS1,SCN9Ac.2904G>C (p.Leu968Phe)
c.2871G>C (p.Leu957Phe)
c.1877-348G>C
n.870-4242C>G
c.2517G>C (p.Leu839Phe)
c.2160G>C (p.Leu720Phe)
n.3372G>C
2g.166272846C>TCA429978174SCN1A-AS1,SCN9Ac.2904G>A (p.Leu968=)
c.2871G>A (p.Leu957=)
c.1877-348G>A
n.870-4242C>T
c.2517G>A (p.Leu839=)
c.2160G>A (p.Leu720=)
n.3372G>A
2g.166272847A=CA1304962891SCN1A-AS1,SCN9Ac.2903T= (p.Leu968=)
c.2870T= (p.Leu957=)
c.1877-349T=
n.870-4241A=
c.2516T= (p.Leu839=)
c.2159T= (p.Leu720=)
n.3371T=
2g.166272847A>CCA349074963SCN1A-AS1,SCN9Ac.2903T>G (p.Leu968Trp)
c.2870T>G (p.Leu957Trp)
c.1877-349T>G
n.870-4241A>C
c.2516T>G (p.Leu839Trp)
c.2159T>G (p.Leu720Trp)
n.3371T>G
2g.166272847A>GCA349074965SCN1A-AS1,SCN9Ac.2903T>C (p.Leu968Ser)
c.2870T>C (p.Leu957Ser)
c.1877-349T>C
n.870-4241A>G
c.2516T>C (p.Leu839Ser)
c.2159T>C (p.Leu720Ser)
n.3371T>C
 ClinVar dbSNP
2g.166272847A>TCA349074967SCN1A-AS1,SCN9Ac.2903T>A (p.Leu968Ter)
c.2870T>A (p.Leu957Ter)
c.1877-349T>A
n.870-4241A>T
c.2516T>A (p.Leu839Ter)
c.2159T>A (p.Leu720Ter)
n.3371T>A
 dbSNP
2g.166272852_166272854delCA2586970693SCN1A-AS1,SCN9Ac.2901_2903del (p.Leu968del)
c.2868_2870del (p.Leu957del)
c.1877-351_1877-349del
n.870-4236_870-4234del
c.2514_2516del (p.Leu839del)
c.2157_2159del (p.Leu720del)
n.3369_3371del
2g.166272848A=CA1304962892SCN1A-AS1,SCN9Ac.2902T= (p.Leu968=)
c.2869T= (p.Leu957=)
c.1877-350T=
n.870-4240A=
c.2515T= (p.Leu839=)
c.2158T= (p.Leu720=)
n.3370T=
2g.166272848A>CCA349074969SCN1A-AS1,SCN9Ac.2902T>G (p.Leu968Val)
c.2869T>G (p.Leu957Val)
c.1877-350T>G
n.870-4240A>C
c.2515T>G (p.Leu839Val)
c.2158T>G (p.Leu720Val)
n.3370T>G
2g.166272848A>GCA429978175SCN1A-AS1,SCN9Ac.2902T>C (p.Leu968=)
c.2869T>C (p.Leu957=)
c.1877-350T>C
n.870-4240A>G
c.2515T>C (p.Leu839=)
c.2158T>C (p.Leu720=)
n.3370T>C
 dbSNP gnomAD v3 gnomAD v4
2g.166272848A>TCA349074971SCN1A-AS1,SCN9Ac.2902T>A (p.Leu968Met)
c.2869T>A (p.Leu957Met)
c.1877-350T>A
n.870-4240A>T
c.2515T>A (p.Leu839Met)
c.2158T>A (p.Leu720Met)
n.3370T>A
2g.166272849T>ACA349074973SCN1A-AS1,SCN9Ac.2901A>T (p.Leu967Phe)
c.2868A>T (p.Leu956Phe)
c.1877-351A>T
n.870-4239T>A
c.2514A>T (p.Leu838Phe)
c.2157A>T (p.Leu719Phe)
n.3369A>T
2g.166272849T>CCA429978176SCN1A-AS1,SCN9Ac.2901A>G (p.Leu967=)
c.2868A>G (p.Leu956=)
c.1877-351A>G
n.870-4239T>C
c.2514A>G (p.Leu838=)
c.2157A>G (p.Leu719=)
n.3369A>G
 ClinVar dbSNP gnomAD v4
2g.166272849T>GCA349074975SCN1A-AS1,SCN9Ac.2901A>C (p.Leu967Phe)
c.2868A>C (p.Leu956Phe)
c.1877-351A>C
n.870-4239T>G
c.2514A>C (p.Leu838Phe)
c.2157A>C (p.Leu719Phe)
n.3369A>C
2g.166272850A>CCA349074977SCN1A-AS1,SCN9Ac.2900T>G (p.Leu967Ter)
c.2867T>G (p.Leu956Ter)
c.1877-352T>G
n.870-4238A>C
c.2513T>G (p.Leu838Ter)
c.2156T>G (p.Leu719Ter)
n.3368T>G
2g.166272850A>GCA349074979SCN1A-AS1,SCN9Ac.2900T>C (p.Leu967Ser)
c.2867T>C (p.Leu956Ser)
c.1877-352T>C
n.870-4238A>G
c.2513T>C (p.Leu838Ser)
c.2156T>C (p.Leu719Ser)
n.3368T>C
2g.166272850A>TCA349074981SCN1A-AS1,SCN9Ac.2900T>A (p.Leu967Ter)
c.2867T>A (p.Leu956Ter)
c.1877-352T>A
n.870-4238A>T
c.2513T>A (p.Leu838Ter)
c.2156T>A (p.Leu719Ter)
n.3368T>A
2g.166272851A>CCA349074983SCN1A-AS1,SCN9Ac.2899T>G (p.Leu967Val)
c.2866T>G (p.Leu956Val)
c.1877-353T>G
n.870-4237A>C
c.2512T>G (p.Leu838Val)
c.2155T>G (p.Leu719Val)
n.3367T>G
2g.166272851A>GCA429978177SCN1A-AS1,SCN9Ac.2899T>C (p.Leu967=)
c.2866T>C (p.Leu956=)
c.1877-353T>C
n.870-4237A>G
c.2512T>C (p.Leu838=)
c.2155T>C (p.Leu719=)
n.3367T>C
 gnomAD v4
2g.166272851A>TCA349074985SCN1A-AS1,SCN9Ac.2899T>A (p.Leu967Ile)
c.2866T>A (p.Leu956Ile)
c.1877-353T>A
n.870-4237A>T
c.2512T>A (p.Leu838Ile)
c.2155T>A (p.Leu719Ile)
n.3367T>A
2g.166272852T>ACA349074987SCN1A-AS1,SCN9Ac.2898A>T (p.Leu966Phe)
c.2865A>T (p.Leu955Phe)
c.1877-354A>T
n.870-4236T>A
c.2511A>T (p.Leu837Phe)
c.2154A>T (p.Leu718Phe)
n.3366A>T
2g.166272852T>CCA429978178SCN1A-AS1,SCN9Ac.2898A>G (p.Leu966=)
c.2865A>G (p.Leu955=)
c.1877-354A>G
n.870-4236T>C
c.2511A>G (p.Leu837=)
c.2154A>G (p.Leu718=)
n.3366A>G
 gnomAD v4
2g.166272852T>GCA349074989SCN1A-AS1,SCN9Ac.2898A>C (p.Leu966Phe)
c.2865A>C (p.Leu955Phe)
c.1877-354A>C
n.870-4236T>G
c.2511A>C (p.Leu837Phe)
c.2154A>C (p.Leu718Phe)
n.3366A>C
2g.166272853A>CCA349074992SCN1A-AS1,SCN9Ac.2897T>G (p.Leu966Ter)
c.2864T>G (p.Leu955Ter)
c.1877-355T>G
n.870-4235A>C
c.2510T>G (p.Leu837Ter)
c.2153T>G (p.Leu718Ter)
n.3365T>G
2g.166272853A>GCA349074995SCN1A-AS1,SCN9Ac.2897T>C (p.Leu966Ser)
c.2864T>C (p.Leu955Ser)
c.1877-355T>C
n.870-4235A>G
c.2510T>C (p.Leu837Ser)
c.2153T>C (p.Leu718Ser)
n.3365T>C
2g.166272853A>TCA349074993SCN1A-AS1,SCN9Ac.2897T>A (p.Leu966Ter)
c.2864T>A (p.Leu955Ter)
c.1877-355T>A
n.870-4235A>T
c.2510T>A (p.Leu837Ter)
c.2153T>A (p.Leu718Ter)
n.3365T>A
2g.166272854A>CCA349074998SCN1A-AS1,SCN9Ac.2896T>G (p.Leu966Val)
c.2863T>G (p.Leu955Val)
c.1877-356T>G
n.870-4234A>C
c.2509T>G (p.Leu837Val)
c.2152T>G (p.Leu718Val)
n.3364T>G
2g.166272854A>GCA429978179SCN1A-AS1,SCN9Ac.2896T>C (p.Leu966=)
c.2863T>C (p.Leu955=)
c.1877-356T>C
n.870-4234A>G
c.2509T>C (p.Leu837=)
c.2152T>C (p.Leu718=)
n.3364T>C
2g.166272854A>TCA349074999SCN1A-AS1,SCN9Ac.2896T>A (p.Leu966Ile)
c.2863T>A (p.Leu955Ile)
c.1877-356T>A
n.870-4234A>T
c.2509T>A (p.Leu837Ile)
c.2152T>A (p.Leu718Ile)
n.3364T>A
2g.166272855G>ACA429978180SCN1A-AS1,SCN9Ac.2895C>T (p.Ala965=)
c.2862C>T (p.Ala954=)
c.1877-357C>T
n.870-4233G>A
c.2508C>T (p.Ala836=)
c.2151C>T (p.Ala717=)
n.3363C>T
2g.166272855G>CCA429978182SCN1A-AS1,SCN9Ac.2895C>G (p.Ala965=)
c.2862C>G (p.Ala954=)
c.1877-357C>G
n.870-4233G>C
c.2508C>G (p.Ala836=)
c.2151C>G (p.Ala717=)
n.3363C>G
2g.166272855G>TCA429978181SCN1A-AS1,SCN9Ac.2895C>A (p.Ala965=)
c.2862C>A (p.Ala954=)
c.1877-357C>A
n.870-4233G>T
c.2508C>A (p.Ala836=)
c.2151C>A (p.Ala717=)
n.3363C>A
 gnomAD v4
2g.166272856G>ACA349075002SCN1A-AS1,SCN9Ac.2894C>T (p.Ala965Val)
c.2861C>T (p.Ala954Val)
c.1877-358C>T
n.870-4232G>A
c.2507C>T (p.Ala836Val)
c.2150C>T (p.Ala717Val)
n.3362C>T
 ClinVar
2g.166272856G>CCA349075003SCN1A-AS1,SCN9Ac.2894C>G (p.Ala965Gly)
c.2861C>G (p.Ala954Gly)
c.1877-358C>G
n.870-4232G>C
c.2507C>G (p.Ala836Gly)
c.2150C>G (p.Ala717Gly)
n.3362C>G
2g.166272856G>TCA349075005SCN1A-AS1,SCN9Ac.2894C>A (p.Ala965Asp)
c.2861C>A (p.Ala954Asp)
c.1877-358C>A
n.870-4232G>T
c.2507C>A (p.Ala836Asp)
c.2150C>A (p.Ala717Asp)
n.3362C>A
 gnomAD v4
2g.166272857C>ACA349075008SCN1A-AS1,SCN9Ac.2893G>T (p.Ala965Ser)
c.2860G>T (p.Ala954Ser)
c.1877-359G>T
n.870-4231C>A
c.2506G>T (p.Ala836Ser)
c.2149G>T (p.Ala717Ser)
n.3361G>T
 ClinVar dbSNP gnomAD v4
2g.166272857C>GCA349075009SCN1A-AS1,SCN9Ac.2893G>C (p.Ala965Pro)
c.2860G>C (p.Ala954Pro)
c.1877-359G>C
n.870-4231C>G
c.2506G>C (p.Ala836Pro)
c.2149G>C (p.Ala717Pro)
n.3361G>C
 gnomAD v4
2g.166272857C>TCA349075011SCN1A-AS1,SCN9Ac.2893G>A (p.Ala965Thr)
c.2860G>A (p.Ala954Thr)
c.1877-359G>A
n.870-4231C>T
c.2506G>A (p.Ala836Thr)
c.2149G>A (p.Ala717Thr)
n.3361G>A
2g.166272858C>ACA429978183SCN1A-AS1,SCN9Ac.2892G>T (p.Leu964=)
c.2859G>T (p.Leu953=)
c.1877-360G>T
n.870-4230C>A
c.2505G>T (p.Leu835=)
c.2148G>T (p.Leu716=)
n.3360G>T
 gnomAD v4
2g.166272858C>GCA429978184SCN1A-AS1,SCN9Ac.2892G>C (p.Leu964=)
c.2859G>C (p.Leu953=)
c.1877-360G>C
n.870-4230C>G
c.2505G>C (p.Leu835=)
c.2148G>C (p.Leu716=)
n.3360G>C
2g.166272858C>TCA429978185SCN1A-AS1,SCN9Ac.2892G>A (p.Leu964=)
c.2859G>A (p.Leu953=)
c.1877-360G>A
n.870-4230C>T
c.2505G>A (p.Leu835=)
c.2148G>A (p.Leu716=)
n.3360G>A
2g.166272859A>CCA349075012SCN1A-AS1,SCN9Ac.2891T>G (p.Leu964Arg)
c.2858T>G (p.Leu953Arg)
c.1877-361T>G
n.870-4229A>C
c.2504T>G (p.Leu835Arg)
c.2147T>G (p.Leu716Arg)
n.3359T>G
2g.166272859A>GCA349075014SCN1A-AS1,SCN9Ac.2891T>C (p.Leu964Pro)
c.2858T>C (p.Leu953Pro)
c.1877-361T>C
n.870-4229A>G
c.2504T>C (p.Leu835Pro)
c.2147T>C (p.Leu716Pro)
n.3359T>C
 gnomAD v4
2g.166272859A>TCA349075016SCN1A-AS1,SCN9Ac.2891T>A (p.Leu964Gln)
c.2858T>A (p.Leu953Gln)
c.1877-361T>A
n.870-4229A>T
c.2504T>A (p.Leu835Gln)
c.2147T>A (p.Leu716Gln)
n.3359T>A
2g.166272860G>ACA429978186SCN1A-AS1,SCN9Ac.2890C>T (p.Leu964=)
c.2857C>T (p.Leu953=)
c.1877-362C>T
n.870-4228G>A
c.2503C>T (p.Leu835=)
c.2146C>T (p.Leu716=)
n.3358C>T
2g.166272860G>CCA349075018SCN1A-AS1,SCN9Ac.2890C>G (p.Leu964Val)
c.2857C>G (p.Leu953Val)
c.1877-362C>G
n.870-4228G>C
c.2503C>G (p.Leu835Val)
c.2146C>G (p.Leu716Val)
n.3358C>G
2g.166272860G>TCA349075019SCN1A-AS1,SCN9Ac.2890C>A (p.Leu964Met)
c.2857C>A (p.Leu953Met)
c.1877-362C>A
n.870-4228G>T
c.2503C>A (p.Leu835Met)
c.2146C>A (p.Leu716Met)
n.3358C>A
 gnomAD v4
2g.166272861A>CCA349075022SCN1A-AS1,SCN9Ac.2889T>G (p.Phe963Leu)
c.2856T>G (p.Phe952Leu)
c.1877-363T>G
n.870-4227A>C
c.2502T>G (p.Phe834Leu)
c.2145T>G (p.Phe715Leu)
n.3357T>G
2g.166272861A>GCA429978187SCN1A-AS1,SCN9Ac.2889T>C (p.Phe963=)
c.2856T>C (p.Phe952=)
c.1877-363T>C
n.870-4227A>G
c.2502T>C (p.Phe834=)
c.2145T>C (p.Phe715=)
n.3357T>C
 gnomAD v4
2g.166272861A>TCA349075023SCN1A-AS1,SCN9Ac.2889T>A (p.Phe963Leu)
c.2856T>A (p.Phe952Leu)
c.1877-363T>A
n.870-4227A>T
c.2502T>A (p.Phe834Leu)
c.2145T>A (p.Phe715Leu)
n.3357T>A
2g.166272862A>CCA349075025SCN1A-AS1,SCN9Ac.2888T>G (p.Phe963Cys)
c.2855T>G (p.Phe952Cys)
c.1877-364T>G
n.870-4226A>C
c.2501T>G (p.Phe834Cys)
c.2144T>G (p.Phe715Cys)
n.3356T>G
2g.166272862A>GCA349075027SCN1A-AS1,SCN9Ac.2888T>C (p.Phe963Ser)
c.2855T>C (p.Phe952Ser)
c.1877-364T>C
n.870-4226A>G
c.2501T>C (p.Phe834Ser)
c.2144T>C (p.Phe715Ser)
n.3356T>C
2g.166272862A>TCA349075029SCN1A-AS1,SCN9Ac.2888T>A (p.Phe963Tyr)
c.2855T>A (p.Phe952Tyr)
c.1877-364T>A
n.870-4226A>T
c.2501T>A (p.Phe834Tyr)
c.2144T>A (p.Phe715Tyr)
n.3356T>A
2g.166272863A>CCA349075030SCN1A-AS1,SCN9Ac.2887T>G (p.Phe963Val)
c.2854T>G (p.Phe952Val)
c.1877-365T>G
n.870-4225A>C
c.2500T>G (p.Phe834Val)
c.2143T>G (p.Phe715Val)
n.3355T>G
2g.166272863A>GCA349075031SCN1A-AS1,SCN9Ac.2887T>C (p.Phe963Leu)
c.2854T>C (p.Phe952Leu)
c.1877-365T>C
n.870-4225A>G
c.2500T>C (p.Phe834Leu)
c.2143T>C (p.Phe715Leu)
n.3355T>C
2g.166272863A>TCA349075038SCN1A-AS1,SCN9Ac.2887T>A (p.Phe963Ile)
c.2854T>A (p.Phe952Ile)
c.1877-365T>A
n.870-4225A>T
c.2500T>A (p.Phe834Ile)
c.2143T>A (p.Phe715Ile)
n.3355T>A
2g.166272864T>ACA429978188SCN1A-AS1,SCN9Ac.2886A>T (p.Leu962=)
c.2853A>T (p.Leu951=)
c.1877-366A>T
n.870-4224T>A
c.2499A>T (p.Leu833=)
c.2142A>T (p.Leu714=)
n.3354A>T
2g.166272864T>CCA1944167SCN1A-AS1,SCN9Ac.2886A>G (p.Leu962=)
c.2853A>G (p.Leu951=)
c.1877-366A>G
n.870-4224T>C
c.2499A>G (p.Leu833=)
c.2142A>G (p.Leu714=)
n.3354A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272864T>GCA429978189SCN1A-AS1,SCN9Ac.2886A>C (p.Leu962=)
c.2853A>C (p.Leu951=)
c.1877-366A>C
n.870-4224T>G
c.2499A>C (p.Leu833=)
c.2142A>C (p.Leu714=)
n.3354A>C
2g.166272864T=CA1304962893SCN1A-AS1,SCN9Ac.2886A= (p.Leu962=)
c.2853A= (p.Leu951=)
c.1877-366A=
n.870-4224T=
c.2499A= (p.Leu833=)
c.2142A= (p.Leu714=)
n.3354A=
2g.166272865A>CCA349075042SCN1A-AS1,SCN9Ac.2885T>G (p.Leu962Arg)
c.2852T>G (p.Leu951Arg)
c.1877-367T>G
n.870-4223A>C
c.2498T>G (p.Leu833Arg)
c.2141T>G (p.Leu714Arg)
n.3353T>G
2g.166272865A>GCA349075043SCN1A-AS1,SCN9Ac.2885T>C (p.Leu962Pro)
c.2852T>C (p.Leu951Pro)
c.1877-367T>C
n.870-4223A>G
c.2498T>C (p.Leu833Pro)
c.2141T>C (p.Leu714Pro)
n.3353T>C
2g.166272865A>TCA349075046SCN1A-AS1,SCN9Ac.2885T>A (p.Leu962Gln)
c.2852T>A (p.Leu951Gln)
c.1877-367T>A
n.870-4223A>T
c.2498T>A (p.Leu833Gln)
c.2141T>A (p.Leu714Gln)
n.3353T>A
2g.166272866G>ACA429978190SCN1A-AS1,SCN9Ac.2884C>T (p.Leu962=)
c.2851C>T (p.Leu951=)
c.1877-368C>T
n.870-4222G>A
c.2497C>T (p.Leu833=)
c.2140C>T (p.Leu714=)
n.3352C>T
 dbSNP gnomAD v4
2g.166272866G>CCA349075048SCN1A-AS1,SCN9Ac.2884C>G (p.Leu962Val)
c.2851C>G (p.Leu951Val)
c.1877-368C>G
n.870-4222G>C
c.2497C>G (p.Leu833Val)
c.2140C>G (p.Leu714Val)
n.3352C>G
2g.166272866G=CA1304962894SCN1A-AS1,SCN9Ac.2884C= (p.Leu962=)
c.2851C= (p.Leu951=)
c.1877-368C=
n.870-4222G=
c.2497C= (p.Leu833=)
c.2140C= (p.Leu714=)
n.3352C=
2g.166272866G>TCA349075049SCN1A-AS1,SCN9Ac.2884C>A (p.Leu962Ile)
c.2851C>A (p.Leu951Ile)
c.1877-368C>A
n.870-4222G>T
c.2497C>A (p.Leu833Ile)
c.2140C>A (p.Leu714Ile)
n.3352C>A
2g.166272867G>ACA429978191SCN1A-AS1,SCN9Ac.2883C>T (p.Asn961=)
c.2850C>T (p.Asn950=)
c.1877-369C>T
n.870-4221G>A
c.2496C>T (p.Asn832=)
c.2139C>T (p.Asn713=)
n.3351C>T
2g.166272867G>CCA349075051SCN1A-AS1,SCN9Ac.2883C>G (p.Asn961Lys)
c.2850C>G (p.Asn950Lys)
c.1877-369C>G
n.870-4221G>C
c.2496C>G (p.Asn832Lys)
c.2139C>G (p.Asn713Lys)
n.3351C>G
2g.166272867G>TCA349075053SCN1A-AS1,SCN9Ac.2883C>A (p.Asn961Lys)
c.2850C>A (p.Asn950Lys)
c.1877-369C>A
n.870-4221G>T
c.2496C>A (p.Asn832Lys)
c.2139C>A (p.Asn713Lys)
n.3351C>A
 gnomAD v4
2g.166272868T>ACA349075055SCN1A-AS1,SCN9Ac.2882A>T (p.Asn961Ile)
c.2849A>T (p.Asn950Ile)
c.1877-370A>T
n.870-4220T>A
c.2495A>T (p.Asn832Ile)
c.2138A>T (p.Asn713Ile)
n.3350A>T
2g.166272868T>CCA349075058SCN1A-AS1,SCN9Ac.2882A>G (p.Asn961Ser)
c.2849A>G (p.Asn950Ser)
c.1877-370A>G
n.870-4220T>C
c.2495A>G (p.Asn832Ser)
c.2138A>G (p.Asn713Ser)
n.3350A>G
2g.166272868T>GCA349075060SCN1A-AS1,SCN9Ac.2882A>C (p.Asn961Thr)
c.2849A>C (p.Asn950Thr)
c.1877-370A>C
n.870-4220T>G
c.2495A>C (p.Asn832Thr)
c.2138A>C (p.Asn713Thr)
n.3350A>C
2g.166272870delCA2577144949SCN1A-AS1,SCN9Ac.2882del (p.Asn961ThrfsTer8)
c.2849del (p.Asn950ThrfsTer8)
c.1877-370del
n.870-4218del
c.2495del (p.Asn832ThrfsTer8)
c.2138del (p.Asn713ThrfsTer8)
n.3350del
 gnomAD v4
2g.166272869T>ACA349075062SCN1A-AS1,SCN9Ac.2881A>T (p.Asn961Tyr)
c.2848A>T (p.Asn950Tyr)
c.1877-371A>T
n.870-4219T>A
c.2494A>T (p.Asn832Tyr)
c.2137A>T (p.Asn713Tyr)
n.3349A>T
2g.166272869T>CCA349075063SCN1A-AS1,SCN9Ac.2881A>G (p.Asn961Asp)
c.2848A>G (p.Asn950Asp)
c.1877-371A>G
n.870-4219T>C
c.2494A>G (p.Asn832Asp)
c.2137A>G (p.Asn713Asp)
n.3349A>G
2g.166272869T>GCA349075065SCN1A-AS1,SCN9Ac.2881A>C (p.Asn961His)
c.2848A>C (p.Asn950His)
c.1877-371A>C
n.870-4219T>G
c.2494A>C (p.Asn832His)
c.2137A>C (p.Asn713His)
n.3349A>C
2g.166272870T>ACA429978194SCN1A-AS1,SCN9Ac.2880A>T (p.Leu960=)
c.2847A>T (p.Leu949=)
c.1877-372A>T
n.870-4218T>A
c.2493A>T (p.Leu831=)
c.2136A>T (p.Leu712=)
n.3348A>T
2g.166272870T>CCA429978192SCN1A-AS1,SCN9Ac.2880A>G (p.Leu960=)
c.2847A>G (p.Leu949=)
c.1877-372A>G
n.870-4218T>C
c.2493A>G (p.Leu831=)
c.2136A>G (p.Leu712=)
n.3348A>G
2g.166272870T>GCA429978193SCN1A-AS1,SCN9Ac.2880A>C (p.Leu960=)
c.2847A>C (p.Leu949=)
c.1877-372A>C
n.870-4218T>G
c.2493A>C (p.Leu831=)
c.2136A>C (p.Leu712=)
n.3348A>C
 ClinVar dbSNP
2g.166272871A>CCA349075067SCN1A-AS1,SCN9Ac.2879T>G (p.Leu960Arg)
c.2846T>G (p.Leu949Arg)
c.1877-373T>G
n.870-4217A>C
c.2492T>G (p.Leu831Arg)
c.2135T>G (p.Leu712Arg)
n.3347T>G
2g.166272871A>GCA349075069SCN1A-AS1,SCN9Ac.2879T>C (p.Leu960Pro)
c.2846T>C (p.Leu949Pro)
c.1877-373T>C
n.870-4217A>G
c.2492T>C (p.Leu831Pro)
c.2135T>C (p.Leu712Pro)
n.3347T>C
 gnomAD v4
2g.166272871A>TCA349075070SCN1A-AS1,SCN9Ac.2879T>A (p.Leu960Gln)
c.2846T>A (p.Leu949Gln)
c.1877-373T>A
n.870-4217A>T
c.2492T>A (p.Leu831Gln)
c.2135T>A (p.Leu712Gln)
n.3347T>A
2g.166272872G>ACA429978195SCN1A-AS1,SCN9Ac.2878C>T (p.Leu960=)
c.2845C>T (p.Leu949=)
c.1877-374C>T
n.870-4216G>A
c.2491C>T (p.Leu831=)
c.2134C>T (p.Leu712=)
n.3346C>T
 gnomAD v4 COSMIC COSMIC
2g.166272872G>CCA349075072SCN1A-AS1,SCN9Ac.2878C>G (p.Leu960Val)
c.2845C>G (p.Leu949Val)
c.1877-374C>G
n.870-4216G>C
c.2491C>G (p.Leu831Val)
c.2134C>G (p.Leu712Val)
n.3346C>G
2g.166272872G>TCA349075074SCN1A-AS1,SCN9Ac.2878C>A (p.Leu960Ile)
c.2845C>A (p.Leu949Ile)
c.1877-374C>A
n.870-4216G>T
c.2491C>A (p.Leu831Ile)
c.2134C>A (p.Leu712Ile)
n.3346C>A
 gnomAD v4
2g.166272873G>ACA429978196SCN1A-AS1,SCN9Ac.2877C>T (p.Val959=)
c.2844C>T (p.Val948=)
c.1877-375C>T
n.870-4215G>A
c.2490C>T (p.Val830=)
c.2133C>T (p.Val711=)
n.3345C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166272873G>CCA429978197SCN1A-AS1,SCN9Ac.2877C>G (p.Val959=)
c.2844C>G (p.Val948=)
c.1877-375C>G
n.870-4215G>C
c.2490C>G (p.Val830=)
c.2133C>G (p.Val711=)
n.3345C>G
2g.166272873G=CA1304962895SCN1A-AS1,SCN9Ac.2877C= (p.Val959=)
c.2844C= (p.Val948=)
c.1877-375C=
n.870-4215G=
c.2490C= (p.Val830=)
c.2133C= (p.Val711=)
n.3345C=
2g.166272873G>TCA1944168SCN1A-AS1,SCN9Ac.2877C>A (p.Val959=)
c.2844C>A (p.Val948=)
c.1877-375C>A
n.870-4215G>T
c.2490C>A (p.Val830=)
c.2133C>A (p.Val711=)
n.3345C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272874A=CA1304962896SCN1A-AS1,SCN9Ac.2876T= (p.Val959=)
c.2843T= (p.Val948=)
c.1877-376T=
n.870-4214A=
c.2489T= (p.Val830=)
c.2132T= (p.Val711=)
n.3344T=
2g.166272874A>CCA349075081SCN1A-AS1,SCN9Ac.2876T>G (p.Val959Gly)
c.2843T>G (p.Val948Gly)
c.1877-376T>G
n.870-4214A>C
c.2489T>G (p.Val830Gly)
c.2132T>G (p.Val711Gly)
n.3344T>G
2g.166272874A>GCA349075080SCN1A-AS1,SCN9Ac.2876T>C (p.Val959Ala)
c.2843T>C (p.Val948Ala)
c.1877-376T>C
n.870-4214A>G
c.2489T>C (p.Val830Ala)
c.2132T>C (p.Val711Ala)
n.3344T>C
 dbSNP gnomAD v4
2g.166272874A>TCA349075078SCN1A-AS1,SCN9Ac.2876T>A (p.Val959Asp)
c.2843T>A (p.Val948Asp)
c.1877-376T>A
n.870-4214A>T
c.2489T>A (p.Val830Asp)
c.2132T>A (p.Val711Asp)
n.3344T>A
 ClinVar dbSNP
2g.166272875C>ACA349075084SCN1A-AS1,SCN9Ac.2875G>T (p.Val959Phe)
c.2842G>T (p.Val948Phe)
c.1877-377G>T
n.870-4213C>A
c.2488G>T (p.Val830Phe)
c.2131G>T (p.Val711Phe)
n.3343G>T
 gnomAD v4
2g.166272875C>GCA349075086SCN1A-AS1,SCN9Ac.2875G>C (p.Val959Leu)
c.2842G>C (p.Val948Leu)
c.1877-377G>C
n.870-4213C>G
c.2488G>C (p.Val830Leu)
c.2131G>C (p.Val711Leu)
n.3343G>C
 gnomAD v4
2g.166272875C>TCA349075088SCN1A-AS1,SCN9Ac.2875G>A (p.Val959Ile)
c.2842G>A (p.Val948Ile)
c.1877-377G>A
n.870-4213C>T
c.2488G>A (p.Val830Ile)
c.2131G>A (p.Val711Ile)
n.3343G>A
 gnomAD v4
2g.166272876C>ACA349075091SCN1A-AS1,SCN9Ac.2875-1G>T (n.2875-1G>T)
c.2842-1G>T (n.2842-1G>T)
c.1877-378G>T
n.870-4212C>A
c.2488-1G>T (n.2488-1G>T)
c.2131-1G>T (n.2131-1G>T)
n.3343-1G>T
2g.166272876C>GCA349075092SCN1A-AS1,SCN9Ac.2875-1G>C (n.2875-1G>C)
c.2842-1G>C (n.2842-1G>C)
c.1877-378G>C
n.870-4212C>G
c.2488-1G>C (n.2488-1G>C)
c.2131-1G>C (n.2131-1G>C)
n.3343-1G>C
2g.166272876C>TCA349075094SCN1A-AS1,SCN9Ac.2875-1G>A (n.2875-1G>A)
c.2842-1G>A (n.2842-1G>A)
c.1877-378G>A
n.870-4212C>T
c.2488-1G>A (n.2488-1G>A)
c.2131-1G>A (n.2131-1G>A)
n.3343-1G>A
 ClinVar gnomAD v4
2g.166272877T>ACA349075096SCN1A-AS1,SCN9Ac.2875-2A>T (n.2875-2A>T)
c.2842-2A>T (n.2842-2A>T)
c.1877-379A>T
n.870-4211T>A
c.2488-2A>T (n.2488-2A>T)
c.2131-2A>T (n.2131-2A>T)
n.3343-2A>T
2g.166272877T>CCA349075097SCN1A-AS1,SCN9Ac.2875-2A>G (n.2875-2A>G)
c.2842-2A>G (n.2842-2A>G)
c.1877-379A>G
n.870-4211T>C
c.2488-2A>G (n.2488-2A>G)
c.2131-2A>G (n.2131-2A>G)
n.3343-2A>G
2g.166272877T>GCA349075099SCN1A-AS1,SCN9Ac.2875-2A>C (n.2875-2A>C)
c.2842-2A>C (n.2842-2A>C)
c.1877-379A>C
n.870-4211T>G
c.2488-2A>C (n.2488-2A>C)
c.2131-2A>C (n.2131-2A>C)
n.3343-2A>C
2g.166272878A>GCA2661766693SCN1A-AS1,SCN9Ac.2875-3T>C (n.2875-3T>C)
c.2842-3T>C (n.2842-3T>C)
c.1877-380T>C
n.870-4210A>G
c.2488-3T>C (n.2488-3T>C)
c.2131-3T>C (n.2131-3T>C)
n.3343-3T>C
 gnomAD v4
2g.166272879T>ACA2577144950SCN1A-AS1,SCN9Ac.2875-4A>T (n.2875-4A>T)
c.2842-4A>T (n.2842-4A>T)
c.1877-381A>T
n.870-4209T>A
c.2488-4A>T (n.2488-4A>T)
c.2131-4A>T (n.2131-4A>T)
n.3343-4A>T
2g.166272879_166272880delinsTACA1304962897SCN1A-AS1,SCN9Ac.2875-5_2875-4delinsTA (n.2875-5_2875-4delinsTA)
c.2842-5_2842-4delinsTA (n.2842-5_2842-4delinsTA)
c.1877-382_1877-381delinsTA
n.870-4209_870-4208delinsTA
c.2488-5_2488-4delinsTA (n.2488-5_2488-4delinsTA)
c.2131-5_2131-4delinsTA (n.2131-5_2131-4delinsTA)
n.3343-5_3343-4delinsTA
2g.166272879_166272881delinsTATCA1304962898SCN1A-AS1,SCN9Ac.2875-6_2875-4delinsATA (n.2875-6_2875-4delinsATA)
c.2842-6_2842-4delinsATA (n.2842-6_2842-4delinsATA)
c.1877-383_1877-381delinsATA
n.870-4209_870-4207delinsTAT
c.2488-6_2488-4delinsATA (n.2488-6_2488-4delinsATA)
c.2131-6_2131-4delinsATA (n.2131-6_2131-4delinsATA)
n.3343-6_3343-4delinsATA
2g.166272880delCA1944169SCN1A-AS1,SCN9Ac.2875-5del (n.2875-5del)
c.2842-5del (n.2842-5del)
c.1877-382del
n.870-4208del
c.2488-5del (n.2488-5del)
c.2131-5del (n.2131-5del)
n.3343-5del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272880A=CA1304962899SCN1A-AS1,SCN9Ac.2875-5T= (n.2875-5T=)
c.2842-5T= (n.2842-5T=)
c.1877-382T=
n.870-4208A=
c.2488-5T= (n.2488-5T=)
c.2131-5T= (n.2131-5T=)
n.3343-5T=
2g.166272880A>CCA2586970694SCN1A-AS1,SCN9Ac.2875-5T>G (n.2875-5T>G)
c.2842-5T>G (n.2842-5T>G)
c.1877-382T>G
n.870-4208A>C
c.2488-5T>G (n.2488-5T>G)
c.2131-5T>G (n.2131-5T>G)
n.3343-5T>G
2g.166272880A>GCA2661766694SCN1A-AS1,SCN9Ac.2875-5T>C (n.2875-5T>C)
c.2842-5T>C (n.2842-5T>C)
c.1877-382T>C
n.870-4208A>G
c.2488-5T>C (n.2488-5T>C)
c.2131-5T>C (n.2131-5T>C)
n.3343-5T>C
 gnomAD v4
2g.166272880A>TCA1944170SCN1A-AS1,SCN9Ac.2875-5T>A (n.2875-5T>A)
c.2842-5T>A (n.2842-5T>A)
c.1877-382T>A
n.870-4208A>T
c.2488-5T>A (n.2488-5T>A)
c.2131-5T>A (n.2131-5T>A)
n.3343-5T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272880_166272881delinsCCA891843197SCN1A-AS1,SCN9Ac.2875-6_2875-5delinsG (n.2875-6_2875-5delinsG)
c.2842-6_2842-5delinsG (n.2842-6_2842-5delinsG)
c.1877-383_1877-382delinsG
n.870-4208_870-4207delinsC
c.2488-6_2488-5delinsG (n.2488-6_2488-5delinsG)
c.2131-6_2131-5delinsG (n.2131-6_2131-5delinsG)
n.3343-6_3343-5delinsG
 ClinVar dbSNP
2g.166272881T>ACA1304962901SCN1A-AS1,SCN9Ac.2875-6A>T (n.2875-6A>T)
c.2842-6A>T (n.2842-6A>T)
c.1877-383A>T
n.870-4207T>A
c.2488-6A>T (n.2488-6A>T)
c.2131-6A>T (n.2131-6A>T)
n.3343-6A>T
 ClinVar dbSNP gnomAD v4
2g.166272881T>CCA1944171SCN1A-AS1,SCN9Ac.2875-6A>G (n.2875-6A>G)
c.2842-6A>G (n.2842-6A>G)
c.1877-383A>G
n.870-4207T>C
c.2488-6A>G (n.2488-6A>G)
c.2131-6A>G (n.2131-6A>G)
n.3343-6A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272881T=CA1304962900SCN1A-AS1,SCN9Ac.2875-6A= (n.2875-6A=)
c.2842-6A= (n.2842-6A=)
c.1877-383A=
n.870-4207T=
c.2488-6A= (n.2488-6A=)
c.2131-6A= (n.2131-6A=)
n.3343-6A=
2g.166272882C>ACA2661766695SCN1A-AS1,SCN9Ac.2875-7G>T (n.2875-7G>T)
c.2842-7G>T (n.2842-7G>T)
c.1877-384G>T
n.870-4206C>A
c.2488-7G>T (n.2488-7G>T)
c.2131-7G>T (n.2131-7G>T)
n.3343-7G>T
 gnomAD v4
2g.166272882C>TCA2577144951SCN1A-AS1,SCN9Ac.2875-7G>A (n.2875-7G>A)
c.2842-7G>A (n.2842-7G>A)
c.1877-384G>A
n.870-4206C>T
c.2488-7G>A (n.2488-7G>A)
c.2131-7G>A (n.2131-7G>A)
n.3343-7G>A
2g.166272883A>GCA2661766696SCN1A-AS1,SCN9Ac.2875-8T>C (n.2875-8T>C)
c.2842-8T>C (n.2842-8T>C)
c.1877-385T>C
n.870-4205A>G
c.2488-8T>C (n.2488-8T>C)
c.2131-8T>C (n.2131-8T>C)
n.3343-8T>C
 gnomAD v4
2g.166272884G>TCA2577144952SCN1A-AS1,SCN9Ac.2875-9C>A (n.2875-9C>A)
c.2842-9C>A (n.2842-9C>A)
c.1877-386C>A
n.870-4204G>T
c.2488-9C>A (n.2488-9C>A)
c.2131-9C>A (n.2131-9C>A)
n.3343-9C>A
 dbSNP gnomAD v3 gnomAD v4
2g.166272885G>TCA2661766697SCN1A-AS1,SCN9Ac.2875-10C>A (n.2875-10C>A)
c.2842-10C>A (n.2842-10C>A)
c.1877-387C>A
n.870-4203G>T
c.2488-10C>A (n.2488-10C>A)
c.2131-10C>A (n.2131-10C>A)
n.3343-10C>A
 gnomAD v4
2g.166272886G>ACA2661766698SCN1A-AS1,SCN9Ac.2875-11C>T (n.2875-11C>T)
c.2842-11C>T (n.2842-11C>T)
c.1877-388C>T
n.870-4202G>A
c.2488-11C>T (n.2488-11C>T)
c.2131-11C>T (n.2131-11C>T)
n.3343-11C>T
 gnomAD v4
2g.166272886G=CA1304962902SCN1A-AS1,SCN9Ac.2875-11C= (n.2875-11C=)
c.2842-11C= (n.2842-11C=)
c.1877-388C=
n.870-4202G=
c.2488-11C= (n.2488-11C=)
c.2131-11C= (n.2131-11C=)
n.3343-11C=
2g.166272886G>TCA1944172SCN1A-AS1,SCN9Ac.2875-11C>A (n.2875-11C>A)
c.2842-11C>A (n.2842-11C>A)
c.1877-388C>A
n.870-4202G>T
c.2488-11C>A (n.2488-11C>A)
c.2131-11C>A (n.2131-11C>A)
n.3343-11C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272887T>ACA2740095850SCN1A-AS1,SCN9Ac.2875-12A>T (n.2875-12A>T)
c.2842-12A>T (n.2842-12A>T)
c.1877-389A>T
n.870-4201T>A
c.2488-12A>T (n.2488-12A>T)
c.2131-12A>T (n.2131-12A>T)
n.3343-12A>T
 ClinVar
2g.166272887T>CCA2661766699SCN1A-AS1,SCN9Ac.2875-12A>G (n.2875-12A>G)
c.2842-12A>G (n.2842-12A>G)
c.1877-389A>G
n.870-4201T>C
c.2488-12A>G (n.2488-12A>G)
c.2131-12A>G (n.2131-12A>G)
n.3343-12A>G
 ClinVar gnomAD v4
2g.166272888G>ACA1944173SCN1A-AS1,SCN9Ac.2875-13C>T (n.2875-13C>T)
c.2842-13C>T (n.2842-13C>T)
c.1877-390C>T
n.870-4200G>A
c.2488-13C>T (n.2488-13C>T)
c.2131-13C>T (n.2131-13C>T)
n.3343-13C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272888G=CA1304962903SCN1A-AS1,SCN9Ac.2875-13C= (n.2875-13C=)
c.2842-13C= (n.2842-13C=)
c.1877-390C=
n.870-4200G=
c.2488-13C= (n.2488-13C=)
c.2131-13C= (n.2131-13C=)
n.3343-13C=
2g.166272888G>TCA2577144953SCN1A-AS1,SCN9Ac.2875-13C>A (n.2875-13C>A)
c.2842-13C>A (n.2842-13C>A)
c.1877-390C>A
n.870-4200G>T
c.2488-13C>A (n.2488-13C>A)
c.2131-13C>A (n.2131-13C>A)
n.3343-13C>A
 gnomAD v4
2g.166272891delCA2661766700SCN1A-AS1,SCN9Ac.2875-13del (n.2875-13del)
c.2842-13del (n.2842-13del)
c.1877-390del
n.870-4197del
c.2488-13del (n.2488-13del)
c.2131-13del (n.2131-13del)
n.3343-13del
 gnomAD v4
2g.166272889G>TCA2577144954SCN1A-AS1,SCN9Ac.2875-14C>A (n.2875-14C>A)
c.2842-14C>A (n.2842-14C>A)
c.1877-391C>A
n.870-4199G>T
c.2488-14C>A (n.2488-14C>A)
c.2131-14C>A (n.2131-14C>A)
n.3343-14C>A
 gnomAD v4
2g.166272890G>ACA2507853630SCN1A-AS1,SCN9Ac.2875-15C>T (n.2875-15C>T)
c.2842-15C>T (n.2842-15C>T)
c.1877-392C>T
n.870-4198G>A
c.2488-15C>T (n.2488-15C>T)
c.2131-15C>T (n.2131-15C>T)
n.3343-15C>T
 gnomAD v4
2g.166272890G>TCA2661766701SCN1A-AS1,SCN9Ac.2875-15C>A (n.2875-15C>A)
c.2842-15C>A (n.2842-15C>A)
c.1877-392C>A
n.870-4198G>T
c.2488-15C>A (n.2488-15C>A)
c.2131-15C>A (n.2131-15C>A)
n.3343-15C>A
 gnomAD v4
2g.166272891G>ACA2661766702SCN1A-AS1,SCN9Ac.2875-16C>T (n.2875-16C>T)
c.2842-16C>T (n.2842-16C>T)
c.1877-393C>T
n.870-4197G>A
c.2488-16C>T (n.2488-16C>T)
c.2131-16C>T (n.2131-16C>T)
n.3343-16C>T
 gnomAD v4
2g.166272891G>CCA2606310070SCN1A-AS1,SCN9Ac.2875-16C>G (n.2875-16C>G)
c.2842-16C>G (n.2842-16C>G)
c.1877-393C>G
n.870-4197G>C
c.2488-16C>G (n.2488-16C>G)
c.2131-16C>G (n.2131-16C>G)
n.3343-16C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272891G>TCA2661766703SCN1A-AS1,SCN9Ac.2875-16C>A (n.2875-16C>A)
c.2842-16C>A (n.2842-16C>A)
c.1877-393C>A
n.870-4197G>T
c.2488-16C>A (n.2488-16C>A)
c.2131-16C>A (n.2131-16C>A)
n.3343-16C>A
 gnomAD v4
2g.166272893G>ACA658795950SCN1A-AS1,SCN9Ac.2875-18C>T (n.2875-18C>T)
c.2842-18C>T (n.2842-18C>T)
c.1877-395C>T
n.870-4195G>A
c.2488-18C>T (n.2488-18C>T)
c.2131-18C>T (n.2131-18C>T)
n.3343-18C>T
 ClinVar dbSNP gnomAD v4
2g.166272893G=CA1304962904SCN1A-AS1,SCN9Ac.2875-18C= (n.2875-18C=)
c.2842-18C= (n.2842-18C=)
c.1877-395C=
n.870-4195G=
c.2488-18C= (n.2488-18C=)
c.2131-18C= (n.2131-18C=)
n.3343-18C=
2g.166272893G>TCA2661766704SCN1A-AS1,SCN9Ac.2875-18C>A (n.2875-18C>A)
c.2842-18C>A (n.2842-18C>A)
c.1877-395C>A
n.870-4195G>T
c.2488-18C>A (n.2488-18C>A)
c.2131-18C>A (n.2131-18C>A)
n.3343-18C>A
 gnomAD v4
2g.166272894_166272895delinsAGCA1304962905SCN1A-AS1,SCN9Ac.2875-20_2875-19delinsCT (n.2875-20_2875-19delinsCT)
c.2842-20_2842-19delinsCT (n.2842-20_2842-19delinsCT)
c.1877-397_1877-396delinsCT
n.870-4194_870-4193delinsAG
c.2488-20_2488-19delinsCT (n.2488-20_2488-19delinsCT)
c.2131-20_2131-19delinsCT (n.2131-20_2131-19delinsCT)
n.3343-20_3343-19delinsCT
2g.166272895G>ACA2661766705SCN1A-AS1,SCN9Ac.2875-20C>T (n.2875-20C>T)
c.2842-20C>T (n.2842-20C>T)
c.1877-397C>T
n.870-4193G>A
c.2488-20C>T (n.2488-20C>T)
c.2131-20C>T (n.2131-20C>T)
n.3343-20C>T
 gnomAD v4
2g.166272895G>CCA1944175SCN1A-AS1,SCN9Ac.2875-20C>G (n.2875-20C>G)
c.2842-20C>G (n.2842-20C>G)
c.1877-397C>G
n.870-4193G>C
c.2488-20C>G (n.2488-20C>G)
c.2131-20C>G (n.2131-20C>G)
n.3343-20C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272895G=CA1304962906SCN1A-AS1,SCN9Ac.2875-20C= (n.2875-20C=)
c.2842-20C= (n.2842-20C=)
c.1877-397C=
n.870-4193G=
c.2488-20C= (n.2488-20C=)
c.2131-20C= (n.2131-20C=)
n.3343-20C=
2g.166272895G>TCA2580064349SCN1A-AS1,SCN9Ac.2875-20C>A (n.2875-20C>A)
c.2842-20C>A (n.2842-20C>A)
c.1877-397C>A
n.870-4193G>T
c.2488-20C>A (n.2488-20C>A)
c.2131-20C>A (n.2131-20C>A)
n.3343-20C>A
 ClinVar gnomAD v4
2g.166272899delCA1944174SCN1A-AS1,SCN9Ac.2875-20del (n.2875-20del)
c.2842-20del (n.2842-20del)
c.1877-397del
n.870-4189del
c.2488-20del (n.2488-20del)
c.2131-20del (n.2131-20del)
n.3343-20del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272896G>ACA537649117SCN1A-AS1,SCN9Ac.2875-21C>T (n.2875-21C>T)
c.2842-21C>T (n.2842-21C>T)
c.1877-398C>T
n.870-4192G>A
c.2488-21C>T (n.2488-21C>T)
c.2131-21C>T (n.2131-21C>T)
n.3343-21C>T
 dbSNP gnomAD v2 gnomAD v4
2g.166272896G>CCA760207247SCN1A-AS1,SCN9Ac.2875-21C>G (n.2875-21C>G)
c.2842-21C>G (n.2842-21C>G)
c.1877-398C>G
n.870-4192G>C
c.2488-21C>G (n.2488-21C>G)
c.2131-21C>G (n.2131-21C>G)
n.3343-21C>G
 dbSNP gnomAD v3 gnomAD v4
2g.166272896G=CA1304962907SCN1A-AS1,SCN9Ac.2875-21C= (n.2875-21C=)
c.2842-21C= (n.2842-21C=)
c.1877-398C=
n.870-4192G=
c.2488-21C= (n.2488-21C=)
c.2131-21C= (n.2131-21C=)
n.3343-21C=
2g.166272896G>TCA1944176SCN1A-AS1,SCN9Ac.2875-21C>A (n.2875-21C>A)
c.2842-21C>A (n.2842-21C>A)
c.1877-398C>A
n.870-4192G>T
c.2488-21C>A (n.2488-21C>A)
c.2131-21C>A (n.2131-21C>A)
n.3343-21C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272897G>ACA1944177SCN1A-AS1,SCN9Ac.2875-22C>T (n.2875-22C>T)
c.2842-22C>T (n.2842-22C>T)
c.1877-399C>T
n.870-4191G>A
c.2488-22C>T (n.2488-22C>T)
c.2131-22C>T (n.2131-22C>T)
n.3343-22C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272897G>CCA1304962909SCN1A-AS1,SCN9Ac.2875-22C>G (n.2875-22C>G)
c.2842-22C>G (n.2842-22C>G)
c.1877-399C>G
n.870-4191G>C
c.2488-22C>G (n.2488-22C>G)
c.2131-22C>G (n.2131-22C>G)
n.3343-22C>G
 dbSNP gnomAD v4
2g.166272897G=CA1304962908SCN1A-AS1,SCN9Ac.2875-22C= (n.2875-22C=)
c.2842-22C= (n.2842-22C=)
c.1877-399C=
n.870-4191G=
c.2488-22C= (n.2488-22C=)
c.2131-22C= (n.2131-22C=)
n.3343-22C=
2g.166272897G>TCA2661766706SCN1A-AS1,SCN9Ac.2875-22C>A (n.2875-22C>A)
c.2842-22C>A (n.2842-22C>A)
c.1877-399C>A
n.870-4191G>T
c.2488-22C>A (n.2488-22C>A)
c.2131-22C>A (n.2131-22C>A)
n.3343-22C>A
 gnomAD v4

Number of alleles fetched