Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.165344672_165344678delinsCTTTTTTCA2573133612SCN2Ac.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
c.*999_*1005delinsCTTTTTT (n.*999_*1005delinsCTTTTTT)
c.*667_*673delinsCTTTTTT (n.*667_*673delinsCTTTTTT)
c.*3203_*3209delinsCTTTTTT (n.*3203_*3209delinsCTTTTTT)
c.*622_*628delinsCTTTTTT (n.*622_*628delinsCTTTTTT)
c.2284_2290delinsCTTTTTT (p.Ile762_Ala764delinsLeuPheSer)
c.118_124delinsCTTTTTT (p.Ile40_Ala42delinsLeuPheSer)
c.531_537delinsCTTTTTT
n.2823_2829delinsCTTTTTT
c.2650_2656delinsCTTTTTT (p.Ile884_Ala886delinsLeuPheSer)
c.1927_1933delinsCTTTTTT (p.Ile643_Ala645delinsLeuPheSer)
c.478_484delinsCTTTTTT (p.Ile160_Ala162delinsLeuPheSer)
 ClinVar dbSNP
2g.165344673T>ACA349014404SCN2Ac.2681T>A (p.Ile894Asn)
c.*1000T>A (n.*1000T>A)
c.*668T>A (n.*668T>A)
c.*3204T>A (n.*3204T>A)
c.*623T>A (n.*623T>A)
c.2285T>A (p.Ile762Asn)
c.119T>A (p.Ile40Asn)
c.532T>A
n.2824T>A
c.2651T>A (p.Ile884Asn)
c.1928T>A (p.Ile643Asn)
c.479T>A (p.Ile160Asn)
2g.165344673T>CCA349014407SCN2Ac.2681T>C (p.Ile894Thr)
c.*1000T>C (n.*1000T>C)
c.*668T>C (n.*668T>C)
c.*3204T>C (n.*3204T>C)
c.*623T>C (n.*623T>C)
c.2285T>C (p.Ile762Thr)
c.119T>C (p.Ile40Thr)
c.532T>C
n.2824T>C
c.2651T>C (p.Ile884Thr)
c.1928T>C (p.Ile643Thr)
c.479T>C (p.Ile160Thr)
2g.165344673T>GCA349014412SCN2Ac.2681T>G (p.Ile894Ser)
c.*1000T>G (n.*1000T>G)
c.*668T>G (n.*668T>G)
c.*3204T>G (n.*3204T>G)
c.*623T>G (n.*623T>G)
c.2285T>G (p.Ile762Ser)
c.119T>G (p.Ile40Ser)
c.532T>G
n.2824T>G
c.2651T>G (p.Ile884Ser)
c.1928T>G (p.Ile643Ser)
c.479T>G (p.Ile160Ser)
2g.165344673T=CA1304545487SCN2Ac.2681T= (p.Ile894=)
c.*1000T= (n.*1000T=)
c.*668T= (n.*668T=)
c.*3204T= (n.*3204T=)
c.*623T= (n.*623T=)
c.2285T= (p.Ile762=)
c.119T= (p.Ile40=)
c.532T=
n.2824T=
c.2651T= (p.Ile884=)
c.1928T= (p.Ile643=)
c.479T= (p.Ile160=)
2g.165344674T>ACA429972095SCN2Ac.2682T>A (p.Ile894=)
c.*1001T>A (n.*1001T>A)
c.*669T>A (n.*669T>A)
c.*3205T>A (n.*3205T>A)
c.*624T>A (n.*624T>A)
c.2286T>A (p.Ile762=)
c.120T>A (p.Ile40=)
c.533T>A
n.2825T>A
c.2652T>A (p.Ile884=)
c.1929T>A (p.Ile643=)
c.480T>A (p.Ile160=)
2g.165344674T>CCA429972097SCN2Ac.2682T>C (p.Ile894=)
c.*1001T>C (n.*1001T>C)
c.*669T>C (n.*669T>C)
c.*3205T>C (n.*3205T>C)
c.*624T>C (n.*624T>C)
c.2286T>C (p.Ile762=)
c.120T>C (p.Ile40=)
c.533T>C
n.2825T>C
c.2652T>C (p.Ile884=)
c.1929T>C (p.Ile643=)
c.480T>C (p.Ile160=)
2g.165344674T>GCA349014417SCN2Ac.2682T>G (p.Ile894Met)
c.*1001T>G (n.*1001T>G)
c.*669T>G (n.*669T>G)
c.*3205T>G (n.*3205T>G)
c.*624T>G (n.*624T>G)
c.2286T>G (p.Ile762Met)
c.120T>G (p.Ile40Met)
c.533T>G
n.2825T>G
c.2652T>G (p.Ile884Met)
c.1929T>G (p.Ile643Met)
c.480T>G (p.Ile160Met)
2g.165344675T>ACA349014420SCN2Ac.2683T>A (p.Phe895Ile)
c.*1002T>A (n.*1002T>A)
c.*670T>A (n.*670T>A)
c.*3206T>A (n.*3206T>A)
c.*625T>A (n.*625T>A)
c.2287T>A (p.Phe763Ile)
c.121T>A (p.Phe41Ile)
c.534T>A
n.2826T>A
c.2653T>A (p.Phe885Ile)
c.1930T>A (p.Phe644Ile)
c.481T>A (p.Phe161Ile)
2g.165344675T>CCA349014421SCN2Ac.2683T>C (p.Phe895Leu)
c.*1002T>C (n.*1002T>C)
c.*670T>C (n.*670T>C)
c.*3206T>C (n.*3206T>C)
c.*625T>C (n.*625T>C)
c.2287T>C (p.Phe763Leu)
c.121T>C (p.Phe41Leu)
c.534T>C
n.2826T>C
c.2653T>C (p.Phe885Leu)
c.1930T>C (p.Phe644Leu)
c.481T>C (p.Phe161Leu)
2g.165344675T>GCA349014424SCN2Ac.2683T>G (p.Phe895Val)
c.*1002T>G (n.*1002T>G)
c.*670T>G (n.*670T>G)
c.*3206T>G (n.*3206T>G)
c.*625T>G (n.*625T>G)
c.2287T>G (p.Phe763Val)
c.121T>G (p.Phe41Val)
c.534T>G
n.2826T>G
c.2653T>G (p.Phe885Val)
c.1930T>G (p.Phe644Val)
c.481T>G (p.Phe161Val)
2g.165344676T>ACA349014427SCN2Ac.2684T>A (p.Phe895Tyr)
c.*1003T>A (n.*1003T>A)
c.*671T>A (n.*671T>A)
c.*3207T>A (n.*3207T>A)
c.*626T>A (n.*626T>A)
c.2288T>A (p.Phe763Tyr)
c.122T>A (p.Phe41Tyr)
c.535T>A
n.2827T>A
c.2654T>A (p.Phe885Tyr)
c.1931T>A (p.Phe644Tyr)
c.482T>A (p.Phe161Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.165344676T>CCA349014428SCN2Ac.2684T>C (p.Phe895Ser)
c.*1003T>C (n.*1003T>C)
c.*671T>C (n.*671T>C)
c.*3207T>C (n.*3207T>C)
c.*626T>C (n.*626T>C)
c.2288T>C (p.Phe763Ser)
c.122T>C (p.Phe41Ser)
c.535T>C
n.2827T>C
c.2654T>C (p.Phe885Ser)
c.1931T>C (p.Phe644Ser)
c.482T>C (p.Phe161Ser)
2g.165344676T>GCA349014429SCN2Ac.2684T>G (p.Phe895Cys)
c.*1003T>G (n.*1003T>G)
c.*671T>G (n.*671T>G)
c.*3207T>G (n.*3207T>G)
c.*626T>G (n.*626T>G)
c.2288T>G (p.Phe763Cys)
c.122T>G (p.Phe41Cys)
c.535T>G
n.2827T>G
c.2654T>G (p.Phe885Cys)
c.1931T>G (p.Phe644Cys)
c.482T>G (p.Phe161Cys)
2g.165344676T=CA1304545488SCN2Ac.2684T= (p.Phe895=)
c.*1003T= (n.*1003T=)
c.*671T= (n.*671T=)
c.*3207T= (n.*3207T=)
c.*626T= (n.*626T=)
c.2288T= (p.Phe763=)
c.122T= (p.Phe41=)
c.535T=
n.2827T=
c.2654T= (p.Phe885=)
c.1931T= (p.Phe644=)
c.482T= (p.Phe161=)
2g.165344677T>ACA349014430SCN2Ac.2685T>A (p.Phe895Leu)
c.*1004T>A (n.*1004T>A)
c.*672T>A (n.*672T>A)
c.*3208T>A (n.*3208T>A)
c.*627T>A (n.*627T>A)
c.2289T>A (p.Phe763Leu)
c.123T>A (p.Phe41Leu)
c.536T>A
n.2828T>A
c.2655T>A (p.Phe885Leu)
c.1932T>A (p.Phe644Leu)
c.483T>A (p.Phe161Leu)
2g.165344677T>CCA429972109SCN2Ac.2685T>C (p.Phe895=)
c.*1004T>C (n.*1004T>C)
c.*672T>C (n.*672T>C)
c.*3208T>C (n.*3208T>C)
c.*627T>C (n.*627T>C)
c.2289T>C (p.Phe763=)
c.123T>C (p.Phe41=)
c.536T>C
n.2828T>C
c.2655T>C (p.Phe885=)
c.1932T>C (p.Phe644=)
c.483T>C (p.Phe161=)
2g.165344677T>GCA349014431SCN2Ac.2685T>G (p.Phe895Leu)
c.*1004T>G (n.*1004T>G)
c.*672T>G (n.*672T>G)
c.*3208T>G (n.*3208T>G)
c.*627T>G (n.*627T>G)
c.2289T>G (p.Phe763Leu)
c.123T>G (p.Phe41Leu)
c.536T>G
n.2828T>G
c.2655T>G (p.Phe885Leu)
c.1932T>G (p.Phe644Leu)
c.483T>G (p.Phe161Leu)
2g.165344678G>ACA349014437SCN2Ac.2686G>A (p.Ala896Thr)
c.*1005G>A (n.*1005G>A)
c.*673G>A (n.*673G>A)
c.*3209G>A (n.*3209G>A)
c.*628G>A (n.*628G>A)
c.2290G>A (p.Ala764Thr)
c.124G>A (p.Ala42Thr)
c.537G>A
n.2829G>A
c.2656G>A (p.Ala886Thr)
c.1933G>A (p.Ala645Thr)
c.484G>A (p.Ala162Thr)
2g.165344678G>CCA349014442SCN2Ac.2686G>C (p.Ala896Pro)
c.*1005G>C (n.*1005G>C)
c.*673G>C (n.*673G>C)
c.*3209G>C (n.*3209G>C)
c.*628G>C (n.*628G>C)
c.2290G>C (p.Ala764Pro)
c.124G>C (p.Ala42Pro)
c.537G>C
n.2829G>C
c.2656G>C (p.Ala886Pro)
c.1933G>C (p.Ala645Pro)
c.484G>C (p.Ala162Pro)
 gnomAD v4
2g.165344678G>TCA349014439SCN2Ac.2686G>T (p.Ala896Ser)
c.*1005G>T (n.*1005G>T)
c.*673G>T (n.*673G>T)
c.*3209G>T (n.*3209G>T)
c.*628G>T (n.*628G>T)
c.2290G>T (p.Ala764Ser)
c.124G>T (p.Ala42Ser)
c.537G>T
n.2829G>T
c.2656G>T (p.Ala886Ser)
c.1933G>T (p.Ala645Ser)
c.484G>T (p.Ala162Ser)
 ClinVar dbSNP
2g.165344679C>ACA349014444SCN2Ac.2687C>A (p.Ala896Asp)
c.*1006C>A (n.*1006C>A)
c.*674C>A (n.*674C>A)
c.*3210C>A (n.*3210C>A)
c.*629C>A (n.*629C>A)
c.2291C>A (p.Ala764Asp)
c.125C>A (p.Ala42Asp)
c.538C>A
n.2830C>A
c.2657C>A (p.Ala886Asp)
c.1934C>A (p.Ala645Asp)
c.485C>A (p.Ala162Asp)
2g.165344679C=CA1304545489SCN2Ac.2687C= (p.Ala896=)
c.*1006C= (n.*1006C=)
c.*674C= (n.*674C=)
c.*3210C= (n.*3210C=)
c.*629C= (n.*629C=)
c.2291C= (p.Ala764=)
c.125C= (p.Ala42=)
c.538C=
n.2830C=
c.2657C= (p.Ala886=)
c.1934C= (p.Ala645=)
c.485C= (p.Ala162=)
2g.165344679C>GCA349014445SCN2Ac.2687C>G (p.Ala896Gly)
c.*1006C>G (n.*1006C>G)
c.*674C>G (n.*674C>G)
c.*3210C>G (n.*3210C>G)
c.*629C>G (n.*629C>G)
c.2291C>G (p.Ala764Gly)
c.125C>G (p.Ala42Gly)
c.538C>G
n.2830C>G
c.2657C>G (p.Ala886Gly)
c.1934C>G (p.Ala645Gly)
c.485C>G (p.Ala162Gly)
2g.165344679C>TCA16044307SCN2Ac.2687C>T (p.Ala896Val)
c.*1006C>T (n.*1006C>T)
c.*674C>T (n.*674C>T)
c.*3210C>T (n.*3210C>T)
c.*629C>T (n.*629C>T)
c.2291C>T (p.Ala764Val)
c.125C>T (p.Ala42Val)
c.538C>T
n.2830C>T
c.2657C>T (p.Ala886Val)
c.1934C>T (p.Ala645Val)
c.485C>T (p.Ala162Val)
 ClinVar dbSNP
2g.165344680T>ACA429972124SCN2Ac.2688T>A (p.Ala896=)
c.*1007T>A (n.*1007T>A)
c.*675T>A (n.*675T>A)
c.*3211T>A (n.*3211T>A)
c.*630T>A (n.*630T>A)
c.2292T>A (p.Ala764=)
c.126T>A (p.Ala42=)
c.539T>A
n.2831T>A
c.2658T>A (p.Ala886=)
c.1935T>A (p.Ala645=)
c.486T>A (p.Ala162=)
2g.165344680T>CCA429972126SCN2Ac.2688T>C (p.Ala896=)
c.*1007T>C (n.*1007T>C)
c.*675T>C (n.*675T>C)
c.*3211T>C (n.*3211T>C)
c.*630T>C (n.*630T>C)
c.2292T>C (p.Ala764=)
c.126T>C (p.Ala42=)
c.539T>C
n.2831T>C
c.2658T>C (p.Ala886=)
c.1935T>C (p.Ala645=)
c.486T>C (p.Ala162=)
 dbSNP gnomAD v3 gnomAD v4
2g.165344680T>GCA429972125SCN2Ac.2688T>G (p.Ala896=)
c.*1007T>G (n.*1007T>G)
c.*675T>G (n.*675T>G)
c.*3211T>G (n.*3211T>G)
c.*630T>G (n.*630T>G)
c.2292T>G (p.Ala764=)
c.126T>G (p.Ala42=)
c.539T>G
n.2831T>G
c.2658T>G (p.Ala886=)
c.1935T>G (p.Ala645=)
c.486T>G (p.Ala162=)
2g.165344680T=CA1304545490SCN2Ac.2688T= (p.Ala896=)
c.*1007T= (n.*1007T=)
c.*675T= (n.*675T=)
c.*3211T= (n.*3211T=)
c.*630T= (n.*630T=)
c.2292T= (p.Ala764=)
c.126T= (p.Ala42=)
c.539T=
n.2831T=
c.2658T= (p.Ala886=)
c.1935T= (p.Ala645=)
c.486T= (p.Ala162=)
2g.165344681G>ACA349014448SCN2Ac.2689G>A (p.Val897Met)
c.*1008G>A (n.*1008G>A)
c.*676G>A (n.*676G>A)
c.*3212G>A (n.*3212G>A)
c.*631G>A (n.*631G>A)
c.2293G>A (p.Val765Met)
c.127G>A (p.Val43Met)
c.540G>A
n.2832G>A
c.2659G>A (p.Val887Met)
c.1936G>A (p.Val646Met)
c.487G>A (p.Val163Met)
 dbSNP gnomAD v3 gnomAD v4
2g.165344681G>CCA349014450SCN2Ac.2689G>C (p.Val897Leu)
c.*1008G>C (n.*1008G>C)
c.*676G>C (n.*676G>C)
c.*3212G>C (n.*3212G>C)
c.*631G>C (n.*631G>C)
c.2293G>C (p.Val765Leu)
c.127G>C (p.Val43Leu)
c.540G>C
n.2832G>C
c.2659G>C (p.Val887Leu)
c.1936G>C (p.Val646Leu)
c.487G>C (p.Val163Leu)
2g.165344681G=CA1304545491SCN2Ac.2689G= (p.Val897=)
c.*1008G= (n.*1008G=)
c.*676G= (n.*676G=)
c.*3212G= (n.*3212G=)
c.*631G= (n.*631G=)
c.2293G= (p.Val765=)
c.127G= (p.Val43=)
c.540G=
n.2832G=
c.2659G= (p.Val887=)
c.1936G= (p.Val646=)
c.487G= (p.Val163=)
2g.165344681G>TCA349014453SCN2Ac.2689G>T (p.Val897Leu)
c.*1008G>T (n.*1008G>T)
c.*676G>T (n.*676G>T)
c.*3212G>T (n.*3212G>T)
c.*631G>T (n.*631G>T)
c.2293G>T (p.Val765Leu)
c.127G>T (p.Val43Leu)
c.540G>T
n.2832G>T
c.2659G>T (p.Val887Leu)
c.1936G>T (p.Val646Leu)
c.487G>T (p.Val163Leu)
2g.165344682T>ACA349014455SCN2Ac.2690T>A (p.Val897Glu)
c.*1009T>A (n.*1009T>A)
c.*677T>A (n.*677T>A)
c.*3213T>A (n.*3213T>A)
c.*632T>A (n.*632T>A)
c.2294T>A (p.Val765Glu)
c.128T>A (p.Val43Glu)
c.541T>A
n.2833T>A
c.2660T>A (p.Val887Glu)
c.1937T>A (p.Val646Glu)
c.488T>A (p.Val163Glu)
2g.165344682T>CCA349014456SCN2Ac.2690T>C (p.Val897Ala)
c.*1009T>C (n.*1009T>C)
c.*677T>C (n.*677T>C)
c.*3213T>C (n.*3213T>C)
c.*632T>C (n.*632T>C)
c.2294T>C (p.Val765Ala)
c.128T>C (p.Val43Ala)
c.541T>C
n.2833T>C
c.2660T>C (p.Val887Ala)
c.1937T>C (p.Val646Ala)
c.488T>C (p.Val163Ala)
2g.165344682T>GCA349014457SCN2Ac.2690T>G (p.Val897Gly)
c.*1009T>G (n.*1009T>G)
c.*677T>G (n.*677T>G)
c.*3213T>G (n.*3213T>G)
c.*632T>G (n.*632T>G)
c.2294T>G (p.Val765Gly)
c.128T>G (p.Val43Gly)
c.541T>G
n.2833T>G
c.2660T>G (p.Val887Gly)
c.1937T>G (p.Val646Gly)
c.488T>G (p.Val163Gly)
2g.165344683G>ACA429972134SCN2Ac.2691G>A (p.Val897=)
c.*1010G>A (n.*1010G>A)
c.*678G>A (n.*678G>A)
c.*3214G>A (n.*3214G>A)
c.*633G>A (n.*633G>A)
c.2295G>A (p.Val765=)
c.129G>A (p.Val43=)
c.542G>A
n.2834G>A
c.2661G>A (p.Val887=)
c.1938G>A (p.Val646=)
c.489G>A (p.Val163=)
2g.165344683G>CCA429972136SCN2Ac.2691G>C (p.Val897=)
c.*1010G>C (n.*1010G>C)
c.*678G>C (n.*678G>C)
c.*3214G>C (n.*3214G>C)
c.*633G>C (n.*633G>C)
c.2295G>C (p.Val765=)
c.129G>C (p.Val43=)
c.542G>C
n.2834G>C
c.2661G>C (p.Val887=)
c.1938G>C (p.Val646=)
c.489G>C (p.Val163=)
2g.165344683G>TCA429972138SCN2Ac.2691G>T (p.Val897=)
c.*1010G>T (n.*1010G>T)
c.*678G>T (n.*678G>T)
c.*3214G>T (n.*3214G>T)
c.*633G>T (n.*633G>T)
c.2295G>T (p.Val765=)
c.129G>T (p.Val43=)
c.542G>T
n.2834G>T
c.2661G>T (p.Val887=)
c.1938G>T (p.Val646=)
c.489G>T (p.Val163=)
2g.165344684G>ACA349014458SCN2Ac.2692G>A (p.Val898Ile)
c.*1011G>A (n.*1011G>A)
c.*679G>A (n.*679G>A)
c.*3215G>A (n.*3215G>A)
c.*634G>A (n.*634G>A)
c.2296G>A (p.Val766Ile)
c.130G>A (p.Val44Ile)
c.543G>A
n.2835G>A
c.2662G>A (p.Val888Ile)
c.1939G>A (p.Val647Ile)
c.490G>A (p.Val164Ile)
2g.165344684G>CCA349014459SCN2Ac.2692G>C (p.Val898Leu)
c.*1011G>C (n.*1011G>C)
c.*679G>C (n.*679G>C)
c.*3215G>C (n.*3215G>C)
c.*634G>C (n.*634G>C)
c.2296G>C (p.Val766Leu)
c.130G>C (p.Val44Leu)
c.543G>C
n.2835G>C
c.2662G>C (p.Val888Leu)
c.1939G>C (p.Val647Leu)
c.490G>C (p.Val164Leu)
2g.165344684G>TCA349014463SCN2Ac.2692G>T (p.Val898Phe)
c.*1011G>T (n.*1011G>T)
c.*679G>T (n.*679G>T)
c.*3215G>T (n.*3215G>T)
c.*634G>T (n.*634G>T)
c.2296G>T (p.Val766Phe)
c.130G>T (p.Val44Phe)
c.543G>T
n.2835G>T
c.2662G>T (p.Val888Phe)
c.1939G>T (p.Val647Phe)
c.490G>T (p.Val164Phe)
2g.165344685T>ACA349014484SCN2Ac.2693T>A (p.Val898Asp)
c.*1012T>A (n.*1012T>A)
c.*680T>A (n.*680T>A)
c.*3216T>A (n.*3216T>A)
c.*635T>A (n.*635T>A)
c.2297T>A (p.Val766Asp)
c.131T>A (p.Val44Asp)
c.544T>A
n.2836T>A
c.2663T>A (p.Val888Asp)
c.1940T>A (p.Val647Asp)
c.491T>A (p.Val164Asp)
2g.165344685T>CCA349014480SCN2Ac.2693T>C (p.Val898Ala)
c.*1012T>C (n.*1012T>C)
c.*680T>C (n.*680T>C)
c.*3216T>C (n.*3216T>C)
c.*635T>C (n.*635T>C)
c.2297T>C (p.Val766Ala)
c.131T>C (p.Val44Ala)
c.544T>C
n.2836T>C
c.2663T>C (p.Val888Ala)
c.1940T>C (p.Val647Ala)
c.491T>C (p.Val164Ala)
2g.165344685T>GCA349014477SCN2Ac.2693T>G (p.Val898Gly)
c.*1012T>G (n.*1012T>G)
c.*680T>G (n.*680T>G)
c.*3216T>G (n.*3216T>G)
c.*635T>G (n.*635T>G)
c.2297T>G (p.Val766Gly)
c.131T>G (p.Val44Gly)
c.544T>G
n.2836T>G
c.2663T>G (p.Val888Gly)
c.1940T>G (p.Val647Gly)
c.491T>G (p.Val164Gly)
2g.165344686C>ACA429972146SCN2Ac.2694C>A (p.Val898=)
c.*1013C>A (n.*1013C>A)
c.*681C>A (n.*681C>A)
c.*3217C>A (n.*3217C>A)
c.*636C>A (n.*636C>A)
c.2298C>A (p.Val766=)
c.132C>A (p.Val44=)
c.545C>A
n.2837C>A
c.2664C>A (p.Val888=)
c.1941C>A (p.Val647=)
c.492C>A (p.Val164=)
2g.165344686C=CA1304545492SCN2Ac.2694C= (p.Val898=)
c.*1013C= (n.*1013C=)
c.*681C= (n.*681C=)
c.*3217C= (n.*3217C=)
c.*636C= (n.*636C=)
c.2298C= (p.Val766=)
c.132C= (p.Val44=)
c.545C=
n.2837C=
c.2664C= (p.Val888=)
c.1941C= (p.Val647=)
c.492C= (p.Val164=)
2g.165344686C>GCA429972147SCN2Ac.2694C>G (p.Val898=)
c.*1013C>G (n.*1013C>G)
c.*681C>G (n.*681C>G)
c.*3217C>G (n.*3217C>G)
c.*636C>G (n.*636C>G)
c.2298C>G (p.Val766=)
c.132C>G (p.Val44=)
c.545C>G
n.2837C>G
c.2664C>G (p.Val888=)
c.1941C>G (p.Val647=)
c.492C>G (p.Val164=)
 ClinVar dbSNP
2g.165344686C>TCA59719990SCN2Ac.2694C>T (p.Val898=)
c.*1013C>T (n.*1013C>T)
c.*681C>T (n.*681C>T)
c.*3217C>T (n.*3217C>T)
c.*636C>T (n.*636C>T)
c.2298C>T (p.Val766=)
c.132C>T (p.Val44=)
c.545C>T
n.2837C>T
c.2664C>T (p.Val888=)
c.1941C>T (p.Val647=)
c.492C>T (p.Val164=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.165344687G>ACA317892SCN2Ac.2695G>A (p.Gly899Ser)
c.*1014G>A (n.*1014G>A)
c.*682G>A (n.*682G>A)
c.*3218G>A (n.*3218G>A)
c.*637G>A (n.*637G>A)
c.2299G>A (p.Gly767Ser)
c.133G>A (p.Gly45Ser)
c.546G>A
n.2838G>A
c.2665G>A (p.Gly889Ser)
c.1942G>A (p.Gly648Ser)
c.493G>A (p.Gly165Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched