Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
2 | g.165344684G>C | CA349014459 | SCN2A | c.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) | |
2 | g.165344684G>T | CA349014463 | SCN2A | c.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) | |
2 | g.165344685T>A | CA349014484 | SCN2A | c.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) | |
2 | g.165344685T>C | CA349014480 | SCN2A | c.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) | |
2 | g.165344685T>G | CA349014477 | SCN2A | c.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) | |
2 | g.165344686C>A | CA429972146 | SCN2A | c.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=) | |
2 | g.165344686C= | CA1304545492 | SCN2A | c.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=) | |
2 | g.165344686C>G | CA429972147 | SCN2A | c.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 |
2 | g.165344686C>T | CA59719990 | SCN2A | c.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 |
2 | g.165344687G>A | CA317892 | SCN2A | c.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 |
2 | g.165344687G>C | CA349014495 | SCN2A | c.2695G>C (p.Gly899Arg) c.*1014G>C (n.*1014G>C) c.*682G>C (n.*682G>C) c.*3218G>C (n.*3218G>C) c.*637G>C (n.*637G>C) c.2299G>C (p.Gly767Arg) c.133G>C (p.Gly45Arg) c.546G>C n.2838G>C c.2665G>C (p.Gly889Arg) c.1942G>C (p.Gly648Arg) c.493G>C (p.Gly165Arg) | |
2 | g.165344687G= | CA1304545493 | SCN2A | c.2695G= (p.Gly899=) c.*1014G= (n.*1014G=) c.*682G= (n.*682G=) c.*3218G= (n.*3218G=) c.*637G= (n.*637G=) c.2299G= (p.Gly767=) c.133G= (p.Gly45=) c.546G= n.2838G= c.2665G= (p.Gly889=) c.1942G= (p.Gly648=) c.493G= (p.Gly165=) | |
2 | g.165344687G>T | CA349014499 | SCN2A | c.2695G>T (p.Gly899Cys) c.*1014G>T (n.*1014G>T) c.*682G>T (n.*682G>T) c.*3218G>T (n.*3218G>T) c.*637G>T (n.*637G>T) c.2299G>T (p.Gly767Cys) c.133G>T (p.Gly45Cys) c.546G>T n.2838G>T c.2665G>T (p.Gly889Cys) c.1942G>T (p.Gly648Cys) c.493G>T (p.Gly165Cys) | |
2 | g.165344688G>A | CA317895 | SCN2A | c.2696G>A (p.Gly899Asp) c.*1015G>A (n.*1015G>A) c.*683G>A (n.*683G>A) c.*3219G>A (n.*3219G>A) c.*638G>A (n.*638G>A) c.2300G>A (p.Gly767Asp) c.134G>A (p.Gly45Asp) c.547G>A n.2839G>A c.2666G>A (p.Gly889Asp) c.1943G>A (p.Gly648Asp) c.494G>A (p.Gly165Asp) | ClinVar dbSNP |
2 | g.165344688G>C | CA349014508 | SCN2A | c.2696G>C (p.Gly899Ala) c.*1015G>C (n.*1015G>C) c.*683G>C (n.*683G>C) c.*3219G>C (n.*3219G>C) c.*638G>C (n.*638G>C) c.2300G>C (p.Gly767Ala) c.134G>C (p.Gly45Ala) c.547G>C n.2839G>C c.2666G>C (p.Gly889Ala) c.1943G>C (p.Gly648Ala) c.494G>C (p.Gly165Ala) | |
2 | g.165344688G= | CA1304545494 | SCN2A | c.2696G= (p.Gly899=) c.*1015G= (n.*1015G=) c.*683G= (n.*683G=) c.*3219G= (n.*3219G=) c.*638G= (n.*638G=) c.2300G= (p.Gly767=) c.134G= (p.Gly45=) c.547G= n.2839G= c.2666G= (p.Gly889=) c.1943G= (p.Gly648=) c.494G= (p.Gly165=) | |
2 | g.165344688G>T | CA349014512 | SCN2A | c.2696G>T (p.Gly899Val) c.*1015G>T (n.*1015G>T) c.*683G>T (n.*683G>T) c.*3219G>T (n.*3219G>T) c.*638G>T (n.*638G>T) c.2300G>T (p.Gly767Val) c.134G>T (p.Gly45Val) c.547G>T n.2839G>T c.2666G>T (p.Gly889Val) c.1943G>T (p.Gly648Val) c.494G>T (p.Gly165Val) |