Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165344670T>A | CA349014375 | SCN2A | c.2678T>A (p.Phe893Tyr) c.*997T>A (n.*997T>A) c.*665T>A (n.*665T>A) c.*3201T>A (n.*3201T>A) c.*620T>A (n.*620T>A) c.2282T>A (p.Phe761Tyr) c.116T>A (p.Phe39Tyr) c.529T>A n.2821T>A c.2648T>A (p.Phe883Tyr) c.1925T>A (p.Phe642Tyr) c.476T>A (p.Phe159Tyr) | |
2 | g.165344670T>C | CA349014378 | SCN2A | c.2678T>C (p.Phe893Ser) c.*997T>C (n.*997T>C) c.*665T>C (n.*665T>C) c.*3201T>C (n.*3201T>C) c.*620T>C (n.*620T>C) c.2282T>C (p.Phe761Ser) c.116T>C (p.Phe39Ser) c.529T>C n.2821T>C c.2648T>C (p.Phe883Ser) c.1925T>C (p.Phe642Ser) c.476T>C (p.Phe159Ser) | |
2 | g.165344670T>G | CA349014381 | SCN2A | c.2678T>G (p.Phe893Cys) c.*997T>G (n.*997T>G) c.*665T>G (n.*665T>G) c.*3201T>G (n.*3201T>G) c.*620T>G (n.*620T>G) c.2282T>G (p.Phe761Cys) c.116T>G (p.Phe39Cys) c.529T>G n.2821T>G c.2648T>G (p.Phe883Cys) c.1925T>G (p.Phe642Cys) c.476T>G (p.Phe159Cys) | |
2 | g.165344671C>A | CA349014385 | SCN2A | c.2679C>A (p.Phe893Leu) c.*998C>A (n.*998C>A) c.*666C>A (n.*666C>A) c.*3202C>A (n.*3202C>A) c.*621C>A (n.*621C>A) c.2283C>A (p.Phe761Leu) c.117C>A (p.Phe39Leu) c.530C>A n.2822C>A c.2649C>A (p.Phe883Leu) c.1926C>A (p.Phe642Leu) c.477C>A (p.Phe159Leu) | |
2 | g.165344671C= | CA1304545486 | SCN2A | c.2679C= (p.Phe893=) c.*998C= (n.*998C=) c.*666C= (n.*666C=) c.*3202C= (n.*3202C=) c.*621C= (n.*621C=) c.2283C= (p.Phe761=) c.117C= (p.Phe39=) c.530C= n.2822C= c.2649C= (p.Phe883=) c.1926C= (p.Phe642=) c.477C= (p.Phe159=) | |
2 | g.165344671C>G | CA349014389 | SCN2A | c.2679C>G (p.Phe893Leu) c.*998C>G (n.*998C>G) c.*666C>G (n.*666C>G) c.*3202C>G (n.*3202C>G) c.*621C>G (n.*621C>G) c.2283C>G (p.Phe761Leu) c.117C>G (p.Phe39Leu) c.530C>G n.2822C>G c.2649C>G (p.Phe883Leu) c.1926C>G (p.Phe642Leu) c.477C>G (p.Phe159Leu) | |
2 | g.165344671C>T | CA59719987 | SCN2A | c.2679C>T (p.Phe893=) c.*998C>T (n.*998C>T) c.*666C>T (n.*666C>T) c.*3202C>T (n.*3202C>T) c.*621C>T (n.*621C>T) c.2283C>T (p.Phe761=) c.117C>T (p.Phe39=) c.530C>T n.2822C>T c.2649C>T (p.Phe883=) c.1926C>T (p.Phe642=) c.477C>T (p.Phe159=) | dbSNP |
2 | g.165344672A>C | CA349014392 | SCN2A | c.2680A>C (p.Ile894Leu) c.*999A>C (n.*999A>C) c.*667A>C (n.*667A>C) c.*3203A>C (n.*3203A>C) c.*622A>C (n.*622A>C) c.2284A>C (p.Ile762Leu) c.118A>C (p.Ile40Leu) c.531A>C n.2823A>C c.2650A>C (p.Ile884Leu) c.1927A>C (p.Ile643Leu) c.478A>C (p.Ile160Leu) | ClinVar dbSNP |
2 | g.165344672A>G | CA349014400 | SCN2A | c.2680A>G (p.Ile894Val) c.*999A>G (n.*999A>G) c.*667A>G (n.*667A>G) c.*3203A>G (n.*3203A>G) c.*622A>G (n.*622A>G) c.2284A>G (p.Ile762Val) c.118A>G (p.Ile40Val) c.531A>G n.2823A>G c.2650A>G (p.Ile884Val) c.1927A>G (p.Ile643Val) c.478A>G (p.Ile160Val) | gnomAD v4 |
2 | g.165344672A>T | CA349014396 | SCN2A | c.2680A>T (p.Ile894Phe) c.*999A>T (n.*999A>T) c.*667A>T (n.*667A>T) c.*3203A>T (n.*3203A>T) c.*622A>T (n.*622A>T) c.2284A>T (p.Ile762Phe) c.118A>T (p.Ile40Phe) c.531A>T n.2823A>T c.2650A>T (p.Ile884Phe) c.1927A>T (p.Ile643Phe) c.478A>T (p.Ile160Phe) | |
2 | g.165344672_165344678delinsCTTTTTT | CA2573133612 | SCN2A | c.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 |
2 | g.165344673T>A | CA349014404 | SCN2A | c.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) | |
2 | g.165344673T>C | CA349014407 | SCN2A | c.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) | |
2 | g.165344673T>G | CA349014412 | SCN2A | c.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) | |
2 | g.165344673T= | CA1304545487 | SCN2A | c.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=) | |
2 | g.165344674T>A | CA429972095 | SCN2A | c.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=) | |
2 | g.165344674T>C | CA429972097 | SCN2A | c.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=) | |
2 | g.165344674T>G | CA349014417 | SCN2A | c.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) | |
2 | g.165344675T>A | CA349014420 | SCN2A | c.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) | |
2 | g.165344675T>C | CA349014421 | SCN2A | c.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) | |
2 | g.165344675T>G | CA349014424 | SCN2A | c.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) | |
2 | g.165344676T>A | CA349014427 | SCN2A | c.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 |
2 | g.165344676T>C | CA349014428 | SCN2A | c.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) | |
2 | g.165344676T>G | CA349014429 | SCN2A | c.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) | |
2 | g.165344676T= | CA1304545488 | SCN2A | c.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=) | |
2 | g.165344677T>A | CA349014430 | SCN2A | c.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) | |
2 | g.165344677T>C | CA429972109 | SCN2A | c.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=) | |
2 | g.165344677T>G | CA349014431 | SCN2A | c.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) | |
2 | g.165344678G>A | CA349014437 | SCN2A | c.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) | |
2 | g.165344678G>C | CA349014442 | SCN2A | c.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 |
2 | g.165344678G>T | CA349014439 | SCN2A | c.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 |
2 | g.165344679C>A | CA349014444 | SCN2A | c.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) | |
2 | g.165344679C= | CA1304545489 | SCN2A | c.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=) | |
2 | g.165344679C>G | CA349014445 | SCN2A | c.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) | |
2 | g.165344679C>T | CA16044307 | SCN2A | c.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 |
2 | g.165344680T>A | CA429972124 | SCN2A | c.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=) | |
2 | g.165344680T>C | CA429972126 | SCN2A | c.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 |
2 | g.165344680T>G | CA429972125 | SCN2A | c.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=) | |
2 | g.165344680T= | CA1304545490 | SCN2A | c.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=) | |
2 | g.165344681G>A | CA349014448 | SCN2A | c.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 |
2 | g.165344681G>C | CA349014450 | SCN2A | c.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) | |
2 | g.165344681G= | CA1304545491 | SCN2A | c.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=) | |
2 | g.165344681G>T | CA349014453 | SCN2A | c.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) | |
2 | g.165344682T>A | CA349014455 | SCN2A | c.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) | |
2 | g.165344682T>C | CA349014456 | SCN2A | c.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) | |
2 | g.165344682T>G | CA349014457 | SCN2A | c.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) | |
2 | g.165344683G>A | CA429972134 | SCN2A | c.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=) | |
2 | g.165344683G>C | CA429972136 | SCN2A | c.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=) | |
2 | g.165344683G>T | CA429972138 | SCN2A | c.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=) | |
2 | g.165344684G>A | CA349014458 | SCN2A | c.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) |