Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.165344760G>A | CA349015399 | SCN2A | c.2768G>A (p.Trp923Ter) c.*1087G>A (n.*1087G>A) c.*755G>A (n.*755G>A) c.*3291G>A (n.*3291G>A) c.*710G>A (n.*710G>A) c.2372G>A (p.Trp791Ter) c.206G>A (p.Trp69Ter) c.619G>A n.2911G>A c.2738G>A (p.Trp913Ter) c.2015G>A (p.Trp672Ter) c.566G>A (p.Trp189Ter) | dbSNP |
2 | g.165344760G>C | CA349015402 | SCN2A | c.2768G>C (p.Trp923Ser) c.*1087G>C (n.*1087G>C) c.*755G>C (n.*755G>C) c.*3291G>C (n.*3291G>C) c.*710G>C (n.*710G>C) c.2372G>C (p.Trp791Ser) c.206G>C (p.Trp69Ser) c.619G>C n.2911G>C c.2738G>C (p.Trp913Ser) c.2015G>C (p.Trp672Ser) c.566G>C (p.Trp189Ser) | |
2 | g.165344760G= | CA1304545523 | SCN2A | c.2768G= (p.Trp923=) c.*1087G= (n.*1087G=) c.*755G= (n.*755G=) c.*3291G= (n.*3291G=) c.*710G= (n.*710G=) c.2372G= (p.Trp791=) c.206G= (p.Trp69=) c.619G= n.2911G= c.2738G= (p.Trp913=) c.2015G= (p.Trp672=) c.566G= (p.Trp189=) | |
2 | g.165344760G>T | CA349015406 | SCN2A | c.2768G>T (p.Trp923Leu) c.*1087G>T (n.*1087G>T) c.*755G>T (n.*755G>T) c.*3291G>T (n.*3291G>T) c.*710G>T (n.*710G>T) c.2372G>T (p.Trp791Leu) c.206G>T (p.Trp69Leu) c.619G>T n.2911G>T c.2738G>T (p.Trp913Leu) c.2015G>T (p.Trp672Leu) c.566G>T (p.Trp189Leu) | COSMIC COSMIC |
2 | g.165344761G>A | CA349015412 | SCN2A | c.2769G>A (p.Trp923Ter) c.*1088G>A (n.*1088G>A) c.*756G>A (n.*756G>A) c.*3292G>A (n.*3292G>A) c.*711G>A (n.*711G>A) c.2373G>A (p.Trp791Ter) c.207G>A (p.Trp69Ter) c.620G>A n.2912G>A c.2739G>A (p.Trp913Ter) c.2016G>A (p.Trp672Ter) c.567G>A (p.Trp189Ter) | dbSNP |
2 | g.165344761G>C | CA349015414 | SCN2A | c.2769G>C (p.Trp923Cys) c.*1088G>C (n.*1088G>C) c.*756G>C (n.*756G>C) c.*3292G>C (n.*3292G>C) c.*711G>C (n.*711G>C) c.2373G>C (p.Trp791Cys) c.207G>C (p.Trp69Cys) c.620G>C n.2912G>C c.2739G>C (p.Trp913Cys) c.2016G>C (p.Trp672Cys) c.567G>C (p.Trp189Cys) | |
2 | g.165344761G= | CA1304545524 | SCN2A | c.2769G= (p.Trp923=) c.*1088G= (n.*1088G=) c.*756G= (n.*756G=) c.*3292G= (n.*3292G=) c.*711G= (n.*711G=) c.2373G= (p.Trp791=) c.207G= (p.Trp69=) c.620G= n.2912G= c.2739G= (p.Trp913=) c.2016G= (p.Trp672=) c.567G= (p.Trp189=) | |
2 | g.165344761G>T | CA349015418 | SCN2A | c.2769G>T (p.Trp923Cys) c.*1088G>T (n.*1088G>T) c.*756G>T (n.*756G>T) c.*3292G>T (n.*3292G>T) c.*711G>T (n.*711G>T) c.2373G>T (p.Trp791Cys) c.207G>T (p.Trp69Cys) c.620G>T n.2912G>T c.2739G>T (p.Trp913Cys) c.2016G>T (p.Trp672Cys) c.567G>T (p.Trp189Cys) | |
2 | g.165344762C>A | CA349015424 | SCN2A | c.2770C>A (p.His924Asn) c.*1089C>A (n.*1089C>A) c.*757C>A (n.*757C>A) c.*3293C>A (n.*3293C>A) c.*712C>A (n.*712C>A) c.2374C>A (p.His792Asn) c.208C>A (p.His70Asn) c.621C>A n.2913C>A c.2740C>A (p.His914Asn) c.2017C>A (p.His673Asn) c.568C>A (p.His190Asn) | gnomAD v4 |
2 | g.165344762C>G | CA349015431 | SCN2A | c.2770C>G (p.His924Asp) c.*1089C>G (n.*1089C>G) c.*757C>G (n.*757C>G) c.*3293C>G (n.*3293C>G) c.*712C>G (n.*712C>G) c.2374C>G (p.His792Asp) c.208C>G (p.His70Asp) c.621C>G n.2913C>G c.2740C>G (p.His914Asp) c.2017C>G (p.His673Asp) c.568C>G (p.His190Asp) | |
2 | g.165344762C>T | CA349015427 | SCN2A | c.2770C>T (p.His924Tyr) c.*1089C>T (n.*1089C>T) c.*757C>T (n.*757C>T) c.*3293C>T (n.*3293C>T) c.*712C>T (n.*712C>T) c.2374C>T (p.His792Tyr) c.208C>T (p.His70Tyr) c.621C>T n.2913C>T c.2740C>T (p.His914Tyr) c.2017C>T (p.His673Tyr) c.568C>T (p.His190Tyr) | |
2 | g.165344763A>C | CA349015435 | SCN2A | c.2771A>C (p.His924Pro) c.*1090A>C (n.*1090A>C) c.*758A>C (n.*758A>C) c.*3294A>C (n.*3294A>C) c.*713A>C (n.*713A>C) c.2375A>C (p.His792Pro) c.209A>C (p.His70Pro) c.622A>C n.2914A>C c.2741A>C (p.His914Pro) c.2018A>C (p.His673Pro) c.569A>C (p.His190Pro) | |
2 | g.165344763A>G | CA349015439 | SCN2A | c.2771A>G (p.His924Arg) c.*1090A>G (n.*1090A>G) c.*758A>G (n.*758A>G) c.*3294A>G (n.*3294A>G) c.*713A>G (n.*713A>G) c.2375A>G (p.His792Arg) c.209A>G (p.His70Arg) c.622A>G n.2914A>G c.2741A>G (p.His914Arg) c.2018A>G (p.His673Arg) c.569A>G (p.His190Arg) | |
2 | g.165344763A>T | CA349015440 | SCN2A | c.2771A>T (p.His924Leu) c.*1090A>T (n.*1090A>T) c.*758A>T (n.*758A>T) c.*3294A>T (n.*3294A>T) c.*713A>T (n.*713A>T) c.2375A>T (p.His792Leu) c.209A>T (p.His70Leu) c.622A>T n.2914A>T c.2741A>T (p.His914Leu) c.2018A>T (p.His673Leu) c.569A>T (p.His190Leu) | |
2 | g.165344764C>A | CA349015444 | SCN2A | c.2772C>A (p.His924Gln) c.*1091C>A (n.*1091C>A) c.*759C>A (n.*759C>A) c.*3295C>A (n.*3295C>A) c.*714C>A (n.*714C>A) c.2376C>A (p.His792Gln) c.210C>A (p.His70Gln) c.623C>A n.2915C>A c.2742C>A (p.His914Gln) c.2019C>A (p.His673Gln) c.570C>A (p.His190Gln) | |
2 | g.165344764C>G | CA349015446 | SCN2A | c.2772C>G (p.His924Gln) c.*1091C>G (n.*1091C>G) c.*759C>G (n.*759C>G) c.*3295C>G (n.*3295C>G) c.*714C>G (n.*714C>G) c.2376C>G (p.His792Gln) c.210C>G (p.His70Gln) c.623C>G n.2915C>G c.2742C>G (p.His914Gln) c.2019C>G (p.His673Gln) c.570C>G (p.His190Gln) | |
2 | g.165344764C>T | CA429972394 | SCN2A | c.2772C>T (p.His924=) c.*1091C>T (n.*1091C>T) c.*759C>T (n.*759C>T) c.*3295C>T (n.*3295C>T) c.*714C>T (n.*714C>T) c.2376C>T (p.His792=) c.210C>T (p.His70=) c.623C>T n.2915C>T c.2742C>T (p.His914=) c.2019C>T (p.His673=) c.570C>T (p.His190=) | gnomAD v4 |
2 | g.165344765A>C | CA349015450 | SCN2A | c.2773A>C (p.Met925Leu) c.*1092A>C (n.*1092A>C) c.*760A>C (n.*760A>C) c.*3296A>C (n.*3296A>C) c.*715A>C (n.*715A>C) c.2377A>C (p.Met793Leu) c.211A>C (p.Met71Leu) c.624A>C n.2916A>C c.2743A>C (p.Met915Leu) c.2020A>C (p.Met674Leu) c.571A>C (p.Met191Leu) | |
2 | g.165344765A>G | CA349015451 | SCN2A | c.2773A>G (p.Met925Val) c.*1092A>G (n.*1092A>G) c.*760A>G (n.*760A>G) c.*3296A>G (n.*3296A>G) c.*715A>G (n.*715A>G) c.2377A>G (p.Met793Val) c.211A>G (p.Met71Val) c.624A>G n.2916A>G c.2743A>G (p.Met915Val) c.2020A>G (p.Met674Val) c.571A>G (p.Met191Val) | |
2 | g.165344765A>T | CA349015452 | SCN2A | c.2773A>T (p.Met925Leu) c.*1092A>T (n.*1092A>T) c.*760A>T (n.*760A>T) c.*3296A>T (n.*3296A>T) c.*715A>T (n.*715A>T) c.2377A>T (p.Met793Leu) c.211A>T (p.Met71Leu) c.624A>T n.2916A>T c.2743A>T (p.Met915Leu) c.2020A>T (p.Met674Leu) c.571A>T (p.Met191Leu) | |
2 | g.165344766T>A | CA349015453 | SCN2A | c.2774T>A (p.Met925Lys) c.*1093T>A (n.*1093T>A) c.*761T>A (n.*761T>A) c.*3297T>A (n.*3297T>A) c.*716T>A (n.*716T>A) c.2378T>A (p.Met793Lys) c.212T>A (p.Met71Lys) c.625T>A n.2917T>A c.2744T>A (p.Met915Lys) c.2021T>A (p.Met674Lys) c.572T>A (p.Met191Lys) | |
2 | g.165344766T>C | CA16042355 | SCN2A | c.2774T>C (p.Met925Thr) c.*1093T>C (n.*1093T>C) c.*761T>C (n.*761T>C) c.*3297T>C (n.*3297T>C) c.*716T>C (n.*716T>C) c.2378T>C (p.Met793Thr) c.212T>C (p.Met71Thr) c.625T>C n.2917T>C c.2744T>C (p.Met915Thr) c.2021T>C (p.Met674Thr) c.572T>C (p.Met191Thr) | ClinVar dbSNP |
2 | g.165344766T>G | CA349015454 | SCN2A | c.2774T>G (p.Met925Arg) c.*1093T>G (n.*1093T>G) c.*761T>G (n.*761T>G) c.*3297T>G (n.*3297T>G) c.*716T>G (n.*716T>G) c.2378T>G (p.Met793Arg) c.212T>G (p.Met71Arg) c.625T>G n.2917T>G c.2744T>G (p.Met915Arg) c.2021T>G (p.Met674Arg) c.572T>G (p.Met191Arg) | |
2 | g.165344766T= | CA1304545525 | SCN2A | c.2774T= (p.Met925=) c.*1093T= (n.*1093T=) c.*761T= (n.*761T=) c.*3297T= (n.*3297T=) c.*716T= (n.*716T=) c.2378T= (p.Met793=) c.212T= (p.Met71=) c.625T= n.2917T= c.2744T= (p.Met915=) c.2021T= (p.Met674=) c.572T= (p.Met191=) | |
2 | g.165344767G>A | CA349015463 | SCN2A | c.2775G>A (p.Met925Ile) c.*1094G>A (n.*1094G>A) c.*762G>A (n.*762G>A) c.*3298G>A (n.*3298G>A) c.*717G>A (n.*717G>A) c.2379G>A (p.Met793Ile) c.213G>A (p.Met71Ile) c.626G>A n.2918G>A c.2745G>A (p.Met915Ile) c.2022G>A (p.Met674Ile) c.573G>A (p.Met191Ile) | |
2 | g.165344767G>C | CA349015465 | SCN2A | c.2775G>C (p.Met925Ile) c.*1094G>C (n.*1094G>C) c.*762G>C (n.*762G>C) c.*3298G>C (n.*3298G>C) c.*717G>C (n.*717G>C) c.2379G>C (p.Met793Ile) c.213G>C (p.Met71Ile) c.626G>C n.2918G>C c.2745G>C (p.Met915Ile) c.2022G>C (p.Met674Ile) c.573G>C (p.Met191Ile) | |
2 | g.165344767G>T | CA349015459 | SCN2A | c.2775G>T (p.Met925Ile) c.*1094G>T (n.*1094G>T) c.*762G>T (n.*762G>T) c.*3298G>T (n.*3298G>T) c.*717G>T (n.*717G>T) c.2379G>T (p.Met793Ile) c.213G>T (p.Met71Ile) c.626G>T n.2918G>T c.2745G>T (p.Met915Ile) c.2022G>T (p.Met674Ile) c.573G>T (p.Met191Ile) | |
2 | g.165344768C>A | CA1940020 | SCN2A | c.2776C>A (p.His926Asn) c.*1095C>A (n.*1095C>A) c.*763C>A (n.*763C>A) c.*3299C>A (n.*3299C>A) c.*718C>A (n.*718C>A) c.2380C>A (p.His794Asn) c.214C>A (p.His72Asn) c.627C>A n.2919C>A c.2746C>A (p.His916Asn) c.2023C>A (p.His675Asn) c.574C>A (p.His192Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165344768C= | CA1304545526 | SCN2A | c.2776C= (p.His926=) c.*1095C= (n.*1095C=) c.*763C= (n.*763C=) c.*3299C= (n.*3299C=) c.*718C= (n.*718C=) c.2380C= (p.His794=) c.214C= (p.His72=) c.627C= n.2919C= c.2746C= (p.His916=) c.2023C= (p.His675=) c.574C= (p.His192=) | |
2 | g.165344768C>G | CA349015468 | SCN2A | c.2776C>G (p.His926Asp) c.*1095C>G (n.*1095C>G) c.*763C>G (n.*763C>G) c.*3299C>G (n.*3299C>G) c.*718C>G (n.*718C>G) c.2380C>G (p.His794Asp) c.214C>G (p.His72Asp) c.627C>G n.2919C>G c.2746C>G (p.His916Asp) c.2023C>G (p.His675Asp) c.574C>G (p.His192Asp) | ClinVar dbSNP |
2 | g.165344768C>T | CA349015469 | SCN2A | c.2776C>T (p.His926Tyr) c.*1095C>T (n.*1095C>T) c.*763C>T (n.*763C>T) c.*3299C>T (n.*3299C>T) c.*718C>T (n.*718C>T) c.2380C>T (p.His794Tyr) c.214C>T (p.His72Tyr) c.627C>T n.2919C>T c.2746C>T (p.His916Tyr) c.2023C>T (p.His675Tyr) c.574C>T (p.His192Tyr) | |
2 | g.165344769A= | CA1304545527 | SCN2A | c.2777A= (p.His926=) c.*1096A= (n.*1096A=) c.*764A= (n.*764A=) c.*3300A= (n.*3300A=) c.*719A= (n.*719A=) c.2381A= (p.His794=) c.215A= (p.His72=) c.628A= n.2920A= c.2747A= (p.His916=) c.2024A= (p.His675=) c.575A= (p.His192=) | |
2 | g.165344769A>C | CA349015470 | SCN2A | c.2777A>C (p.His926Pro) c.*1096A>C (n.*1096A>C) c.*764A>C (n.*764A>C) c.*3300A>C (n.*3300A>C) c.*719A>C (n.*719A>C) c.2381A>C (p.His794Pro) c.215A>C (p.His72Pro) c.628A>C n.2920A>C c.2747A>C (p.His916Pro) c.2024A>C (p.His675Pro) c.575A>C (p.His192Pro) | |
2 | g.165344769A>G | CA349015473 | SCN2A | c.2777A>G (p.His926Arg) c.*1096A>G (n.*1096A>G) c.*764A>G (n.*764A>G) c.*3300A>G (n.*3300A>G) c.*719A>G (n.*719A>G) c.2381A>G (p.His794Arg) c.215A>G (p.His72Arg) c.628A>G n.2920A>G c.2747A>G (p.His916Arg) c.2024A>G (p.His675Arg) c.575A>G (p.His192Arg) | gnomAD v4 |
2 | g.165344769A>T | CA317901 | SCN2A | c.2777A>T (p.His926Leu) c.*1096A>T (n.*1096A>T) c.*764A>T (n.*764A>T) c.*3300A>T (n.*3300A>T) c.*719A>T (n.*719A>T) c.2381A>T (p.His794Leu) c.215A>T (p.His72Leu) c.628A>T n.2920A>T c.2747A>T (p.His916Leu) c.2024A>T (p.His675Leu) c.575A>T (p.His192Leu) | dbSNP |
2 | g.165344770T>A | CA349015477 | SCN2A | c.2778T>A (p.His926Gln) c.*1097T>A (n.*1097T>A) c.*765T>A (n.*765T>A) c.*3301T>A (n.*3301T>A) c.*720T>A (n.*720T>A) c.2382T>A (p.His794Gln) c.216T>A (p.His72Gln) c.629T>A n.2921T>A c.2748T>A (p.His916Gln) c.2025T>A (p.His675Gln) c.576T>A (p.His192Gln) | |
2 | g.165344770T>C | CA429972399 | SCN2A | c.2778T>C (p.His926=) c.*1097T>C (n.*1097T>C) c.*765T>C (n.*765T>C) c.*3301T>C (n.*3301T>C) c.*720T>C (n.*720T>C) c.2382T>C (p.His794=) c.216T>C (p.His72=) c.629T>C n.2921T>C c.2748T>C (p.His916=) c.2025T>C (p.His675=) c.576T>C (p.His192=) | |
2 | g.165344770T>G | CA349015480 | SCN2A | c.2778T>G (p.His926Gln) c.*1097T>G (n.*1097T>G) c.*765T>G (n.*765T>G) c.*3301T>G (n.*3301T>G) c.*720T>G (n.*720T>G) c.2382T>G (p.His794Gln) c.216T>G (p.His72Gln) c.629T>G n.2921T>G c.2748T>G (p.His916Gln) c.2025T>G (p.His675Gln) c.576T>G (p.His192Gln) | gnomAD v4 |
2 | g.165344771G>A | CA349015483 | SCN2A | c.2779G>A (p.Asp927Asn) c.*1098G>A (n.*1098G>A) c.*766G>A (n.*766G>A) c.*3302G>A (n.*3302G>A) c.*721G>A (n.*721G>A) c.2383G>A (p.Asp795Asn) c.217G>A (p.Asp73Asn) c.630G>A n.2922G>A c.2749G>A (p.Asp917Asn) c.2026G>A (p.Asp676Asn) c.577G>A (p.Asp193Asn) | |
2 | g.165344771G>C | CA349015488 | SCN2A | c.2779G>C (p.Asp927His) c.*1098G>C (n.*1098G>C) c.*766G>C (n.*766G>C) c.*3302G>C (n.*3302G>C) c.*721G>C (n.*721G>C) c.2383G>C (p.Asp795His) c.217G>C (p.Asp73His) c.630G>C n.2922G>C c.2749G>C (p.Asp917His) c.2026G>C (p.Asp676His) c.577G>C (p.Asp193His) | |
2 | g.165344771G>T | CA349015491 | SCN2A | c.2779G>T (p.Asp927Tyr) c.*1098G>T (n.*1098G>T) c.*766G>T (n.*766G>T) c.*3302G>T (n.*3302G>T) c.*721G>T (n.*721G>T) c.2383G>T (p.Asp795Tyr) c.217G>T (p.Asp73Tyr) c.630G>T n.2922G>T c.2749G>T (p.Asp917Tyr) c.2026G>T (p.Asp676Tyr) c.577G>T (p.Asp193Tyr) | ClinVar |
2 | g.165344772A>C | CA349015508 | SCN2A | c.2780A>C (p.Asp927Ala) c.*1099A>C (n.*1099A>C) c.*767A>C (n.*767A>C) c.*3303A>C (n.*3303A>C) c.*722A>C (n.*722A>C) c.2384A>C (p.Asp795Ala) c.218A>C (p.Asp73Ala) c.631A>C n.2923A>C c.2750A>C (p.Asp917Ala) c.2027A>C (p.Asp676Ala) c.578A>C (p.Asp193Ala) | |
2 | g.165344772A>G | CA349015511 | SCN2A | c.2780A>G (p.Asp927Gly) c.*1099A>G (n.*1099A>G) c.*767A>G (n.*767A>G) c.*3303A>G (n.*3303A>G) c.*722A>G (n.*722A>G) c.2384A>G (p.Asp795Gly) c.218A>G (p.Asp73Gly) c.631A>G n.2923A>G c.2750A>G (p.Asp917Gly) c.2027A>G (p.Asp676Gly) c.578A>G (p.Asp193Gly) | |
2 | g.165344772A>T | CA349015518 | SCN2A | c.2780A>T (p.Asp927Val) c.*1099A>T (n.*1099A>T) c.*767A>T (n.*767A>T) c.*3303A>T (n.*3303A>T) c.*722A>T (n.*722A>T) c.2384A>T (p.Asp795Val) c.218A>T (p.Asp73Val) c.631A>T n.2923A>T c.2750A>T (p.Asp917Val) c.2027A>T (p.Asp676Val) c.578A>T (p.Asp193Val) | |
2 | g.165344773C>A | CA349015520 | SCN2A | c.2781C>A (p.Asp927Glu) c.*1100C>A (n.*1100C>A) c.*768C>A (n.*768C>A) c.*3304C>A (n.*3304C>A) c.*723C>A (n.*723C>A) c.2385C>A (p.Asp795Glu) c.219C>A (p.Asp73Glu) c.632C>A n.2924C>A c.2751C>A (p.Asp917Glu) c.2028C>A (p.Asp676Glu) c.579C>A (p.Asp193Glu) | |
2 | g.165344773C>G | CA349015522 | SCN2A | c.2781C>G (p.Asp927Glu) c.*1100C>G (n.*1100C>G) c.*768C>G (n.*768C>G) c.*3304C>G (n.*3304C>G) c.*723C>G (n.*723C>G) c.2385C>G (p.Asp795Glu) c.219C>G (p.Asp73Glu) c.632C>G n.2924C>G c.2751C>G (p.Asp917Glu) c.2028C>G (p.Asp676Glu) c.579C>G (p.Asp193Glu) | |
2 | g.165344773C>T | CA429972544 | SCN2A | c.2781C>T (p.Asp927=) c.*1100C>T (n.*1100C>T) c.*768C>T (n.*768C>T) c.*3304C>T (n.*3304C>T) c.*723C>T (n.*723C>T) c.2385C>T (p.Asp795=) c.219C>T (p.Asp73=) c.632C>T n.2924C>T c.2751C>T (p.Asp917=) c.2028C>T (p.Asp676=) c.579C>T (p.Asp193=) | |
2 | g.165344774T>A | CA349015525 | SCN2A | c.2782T>A (p.Phe928Ile) c.*1101T>A (n.*1101T>A) c.*769T>A (n.*769T>A) c.*3305T>A (n.*3305T>A) c.*724T>A (n.*724T>A) c.2386T>A (p.Phe796Ile) c.220T>A (p.Phe74Ile) c.633T>A n.2925T>A c.2752T>A (p.Phe918Ile) c.2029T>A (p.Phe677Ile) c.580T>A (p.Phe194Ile) | |
2 | g.165344774T>C | CA349015527 | SCN2A | c.2782T>C (p.Phe928Leu) c.*1101T>C (n.*1101T>C) c.*769T>C (n.*769T>C) c.*3305T>C (n.*3305T>C) c.*724T>C (n.*724T>C) c.2386T>C (p.Phe796Leu) c.220T>C (p.Phe74Leu) c.633T>C n.2925T>C c.2752T>C (p.Phe918Leu) c.2029T>C (p.Phe677Leu) c.580T>C (p.Phe194Leu) | |
2 | g.165344774T>G | CA349015530 | SCN2A | c.2782T>G (p.Phe928Val) c.*1101T>G (n.*1101T>G) c.*769T>G (n.*769T>G) c.*3305T>G (n.*3305T>G) c.*724T>G (n.*724T>G) c.2386T>G (p.Phe796Val) c.220T>G (p.Phe74Val) c.633T>G n.2925T>G c.2752T>G (p.Phe918Val) c.2029T>G (p.Phe677Val) c.580T>G (p.Phe194Val) | |
2 | g.165344775T>A | CA349015532 | SCN2A | c.2783T>A (p.Phe928Tyr) c.*1102T>A (n.*1102T>A) c.*770T>A (n.*770T>A) c.*3306T>A (n.*3306T>A) c.*725T>A (n.*725T>A) c.2387T>A (p.Phe796Tyr) c.221T>A (p.Phe74Tyr) c.634T>A n.2926T>A c.2753T>A (p.Phe918Tyr) c.2030T>A (p.Phe677Tyr) c.581T>A (p.Phe194Tyr) | |
2 | g.165344775T>C | CA349015535 | SCN2A | c.2783T>C (p.Phe928Ser) c.*1102T>C (n.*1102T>C) c.*770T>C (n.*770T>C) c.*3306T>C (n.*3306T>C) c.*725T>C (n.*725T>C) c.2387T>C (p.Phe796Ser) c.221T>C (p.Phe74Ser) c.634T>C n.2926T>C c.2753T>C (p.Phe918Ser) c.2030T>C (p.Phe677Ser) c.581T>C (p.Phe194Ser) | |
2 | g.165344775T>G | CA349015536 | SCN2A | c.2783T>G (p.Phe928Cys) c.*1102T>G (n.*1102T>G) c.*770T>G (n.*770T>G) c.*3306T>G (n.*3306T>G) c.*725T>G (n.*725T>G) c.2387T>G (p.Phe796Cys) c.221T>G (p.Phe74Cys) c.634T>G n.2926T>G c.2753T>G (p.Phe918Cys) c.2030T>G (p.Phe677Cys) c.581T>G (p.Phe194Cys) | |
2 | g.165344776T>A | CA349015540 | SCN2A | c.2784T>A (p.Phe928Leu) c.*1103T>A (n.*1103T>A) c.*771T>A (n.*771T>A) c.*3307T>A (n.*3307T>A) c.*726T>A (n.*726T>A) c.2388T>A (p.Phe796Leu) c.222T>A (p.Phe74Leu) c.635T>A n.2927T>A c.2754T>A (p.Phe918Leu) c.2031T>A (p.Phe677Leu) c.582T>A (p.Phe194Leu) | |
2 | g.165344776T>C | CA429972555 | SCN2A | c.2784T>C (p.Phe928=) c.*1103T>C (n.*1103T>C) c.*771T>C (n.*771T>C) c.*3307T>C (n.*3307T>C) c.*726T>C (n.*726T>C) c.2388T>C (p.Phe796=) c.222T>C (p.Phe74=) c.635T>C n.2927T>C c.2754T>C (p.Phe918=) c.2031T>C (p.Phe677=) c.582T>C (p.Phe194=) | gnomAD v4 |
2 | g.165344776T>G | CA349015544 | SCN2A | c.2784T>G (p.Phe928Leu) c.*1103T>G (n.*1103T>G) c.*771T>G (n.*771T>G) c.*3307T>G (n.*3307T>G) c.*726T>G (n.*726T>G) c.2388T>G (p.Phe796Leu) c.222T>G (p.Phe74Leu) c.635T>G n.2927T>G c.2754T>G (p.Phe918Leu) c.2031T>G (p.Phe677Leu) c.582T>G (p.Phe194Leu) | |
2 | g.165344777T>A | CA349015547 | SCN2A | c.2785T>A (p.Phe929Ile) c.*1104T>A (n.*1104T>A) c.*772T>A (n.*772T>A) c.*3308T>A (n.*3308T>A) c.*727T>A (n.*727T>A) c.2389T>A (p.Phe797Ile) c.223T>A (p.Phe75Ile) c.636T>A n.2928T>A c.2755T>A (p.Phe919Ile) c.2032T>A (p.Phe678Ile) c.583T>A (p.Phe195Ile) | |
2 | g.165344777T>C | CA349015551 | SCN2A | c.2785T>C (p.Phe929Leu) c.*1104T>C (n.*1104T>C) c.*772T>C (n.*772T>C) c.*3308T>C (n.*3308T>C) c.*727T>C (n.*727T>C) c.2389T>C (p.Phe797Leu) c.223T>C (p.Phe75Leu) c.636T>C n.2928T>C c.2755T>C (p.Phe919Leu) c.2032T>C (p.Phe678Leu) c.583T>C (p.Phe195Leu) | |
2 | g.165344777T>G | CA349015560 | SCN2A | c.2785T>G (p.Phe929Val) c.*1104T>G (n.*1104T>G) c.*772T>G (n.*772T>G) c.*3308T>G (n.*3308T>G) c.*727T>G (n.*727T>G) c.2389T>G (p.Phe797Val) c.223T>G (p.Phe75Val) c.636T>G n.2928T>G c.2755T>G (p.Phe919Val) c.2032T>G (p.Phe678Val) c.583T>G (p.Phe195Val) | |
2 | g.165344778T>A | CA349015567 | SCN2A | c.2786T>A (p.Phe929Tyr) c.*1105T>A (n.*1105T>A) c.*773T>A (n.*773T>A) c.*3309T>A (n.*3309T>A) c.*728T>A (n.*728T>A) c.2390T>A (p.Phe797Tyr) c.224T>A (p.Phe75Tyr) c.637T>A n.2929T>A c.2756T>A (p.Phe919Tyr) c.2033T>A (p.Phe678Tyr) c.584T>A (p.Phe195Tyr) | |
2 | g.165344778T>C | CA349015570 | SCN2A | c.2786T>C (p.Phe929Ser) c.*1105T>C (n.*1105T>C) c.*773T>C (n.*773T>C) c.*3309T>C (n.*3309T>C) c.*728T>C (n.*728T>C) c.2390T>C (p.Phe797Ser) c.224T>C (p.Phe75Ser) c.637T>C n.2929T>C c.2756T>C (p.Phe919Ser) c.2033T>C (p.Phe678Ser) c.584T>C (p.Phe195Ser) | ClinVar |
2 | g.165344778T>G | CA349015565 | SCN2A | c.2786T>G (p.Phe929Cys) c.*1105T>G (n.*1105T>G) c.*773T>G (n.*773T>G) c.*3309T>G (n.*3309T>G) c.*728T>G (n.*728T>G) c.2390T>G (p.Phe797Cys) c.224T>G (p.Phe75Cys) c.637T>G n.2929T>G c.2756T>G (p.Phe919Cys) c.2033T>G (p.Phe678Cys) c.584T>G (p.Phe195Cys) | |
2 | g.165344779C>A | CA349015572 | SCN2A | c.2787C>A (p.Phe929Leu) c.*1106C>A (n.*1106C>A) c.*774C>A (n.*774C>A) c.*3310C>A (n.*3310C>A) c.*729C>A (n.*729C>A) c.2391C>A (p.Phe797Leu) c.225C>A (p.Phe75Leu) c.638C>A n.2930C>A c.2757C>A (p.Phe919Leu) c.2034C>A (p.Phe678Leu) c.585C>A (p.Phe195Leu) | |
2 | g.165344779C= | CA1304545528 | SCN2A | c.2787C= (p.Phe929=) c.*1106C= (n.*1106C=) c.*774C= (n.*774C=) c.*3310C= (n.*3310C=) c.*729C= (n.*729C=) c.2391C= (p.Phe797=) c.225C= (p.Phe75=) c.638C= n.2930C= c.2757C= (p.Phe919=) c.2034C= (p.Phe678=) c.585C= (p.Phe195=) | |
2 | g.165344779C>G | CA349015575 | SCN2A | c.2787C>G (p.Phe929Leu) c.*1106C>G (n.*1106C>G) c.*774C>G (n.*774C>G) c.*3310C>G (n.*3310C>G) c.*729C>G (n.*729C>G) c.2391C>G (p.Phe797Leu) c.225C>G (p.Phe75Leu) c.638C>G n.2930C>G c.2757C>G (p.Phe919Leu) c.2034C>G (p.Phe678Leu) c.585C>G (p.Phe195Leu) | |
2 | g.165344779C>T | CA429972564 | SCN2A | c.2787C>T (p.Phe929=) c.*1106C>T (n.*1106C>T) c.*774C>T (n.*774C>T) c.*3310C>T (n.*3310C>T) c.*729C>T (n.*729C>T) c.2391C>T (p.Phe797=) c.225C>T (p.Phe75=) c.638C>T n.2930C>T c.2757C>T (p.Phe919=) c.2034C>T (p.Phe678=) c.585C>T (p.Phe195=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.165344780C>A | CA349015579 | SCN2A | c.2788C>A (p.His930Asn) c.*1107C>A (n.*1107C>A) c.*775C>A (n.*775C>A) c.*3311C>A (n.*3311C>A) c.*730C>A (n.*730C>A) c.2392C>A (p.His798Asn) c.226C>A (p.His76Asn) c.639C>A n.2931C>A c.2758C>A (p.His920Asn) c.2035C>A (p.His679Asn) c.586C>A (p.His196Asn) | |
2 | g.165344780C= | CA1304545529 | SCN2A | c.2788C= (p.His930=) c.*1107C= (n.*1107C=) c.*775C= (n.*775C=) c.*3311C= (n.*3311C=) c.*730C= (n.*730C=) c.2392C= (p.His798=) c.226C= (p.His76=) c.639C= n.2931C= c.2758C= (p.His920=) c.2035C= (p.His679=) c.586C= (p.His196=) | |
2 | g.165344780C>G | CA349015581 | SCN2A | c.2788C>G (p.His930Asp) c.*1107C>G (n.*1107C>G) c.*775C>G (n.*775C>G) c.*3311C>G (n.*3311C>G) c.*730C>G (n.*730C>G) c.2392C>G (p.His798Asp) c.226C>G (p.His76Asp) c.639C>G n.2931C>G c.2758C>G (p.His920Asp) c.2035C>G (p.His679Asp) c.586C>G (p.His196Asp) | |
2 | g.165344780C>T | CA349015583 | SCN2A | c.2788C>T (p.His930Tyr) c.*1107C>T (n.*1107C>T) c.*775C>T (n.*775C>T) c.*3311C>T (n.*3311C>T) c.*730C>T (n.*730C>T) c.2392C>T (p.His798Tyr) c.226C>T (p.His76Tyr) c.639C>T n.2931C>T c.2758C>T (p.His920Tyr) c.2035C>T (p.His679Tyr) c.586C>T (p.His196Tyr) | ClinVar dbSNP |
2 | g.165344781A>C | CA349015585 | SCN2A | c.2789A>C (p.His930Pro) c.*1108A>C (n.*1108A>C) c.*776A>C (n.*776A>C) c.*3312A>C (n.*3312A>C) c.*731A>C (n.*731A>C) c.2393A>C (p.His798Pro) c.227A>C (p.His76Pro) c.640A>C n.2932A>C c.2759A>C (p.His920Pro) c.2036A>C (p.His679Pro) c.587A>C (p.His196Pro) | |
2 | g.165344781A>G | CA349015588 | SCN2A | c.2789A>G (p.His930Arg) c.*1108A>G (n.*1108A>G) c.*776A>G (n.*776A>G) c.*3312A>G (n.*3312A>G) c.*731A>G (n.*731A>G) c.2393A>G (p.His798Arg) c.227A>G (p.His76Arg) c.640A>G n.2932A>G c.2759A>G (p.His920Arg) c.2036A>G (p.His679Arg) c.587A>G (p.His196Arg) | |
2 | g.165344781A>T | CA349015593 | SCN2A | c.2789A>T (p.His930Leu) c.*1108A>T (n.*1108A>T) c.*776A>T (n.*776A>T) c.*3312A>T (n.*3312A>T) c.*731A>T (n.*731A>T) c.2393A>T (p.His798Leu) c.227A>T (p.His76Leu) c.640A>T n.2932A>T c.2759A>T (p.His920Leu) c.2036A>T (p.His679Leu) c.587A>T (p.His196Leu) | |
2 | g.165344782C>A | CA349015608 | SCN2A | c.2790C>A (p.His930Gln) c.*1109C>A (n.*1109C>A) c.*777C>A (n.*777C>A) c.*3313C>A (n.*3313C>A) c.*732C>A (n.*732C>A) c.2394C>A (p.His798Gln) c.228C>A (p.His76Gln) c.641C>A n.2933C>A c.2760C>A (p.His920Gln) c.2037C>A (p.His679Gln) c.588C>A (p.His196Gln) | COSMIC COSMIC |
2 | g.165344782C>G | CA349015611 | SCN2A | c.2790C>G (p.His930Gln) c.*1109C>G (n.*1109C>G) c.*777C>G (n.*777C>G) c.*3313C>G (n.*3313C>G) c.*732C>G (n.*732C>G) c.2394C>G (p.His798Gln) c.228C>G (p.His76Gln) c.641C>G n.2933C>G c.2760C>G (p.His920Gln) c.2037C>G (p.His679Gln) c.588C>G (p.His196Gln) | |
2 | g.165344782C>T | CA429972574 | SCN2A | c.2790C>T (p.His930=) c.*1109C>T (n.*1109C>T) c.*777C>T (n.*777C>T) c.*3313C>T (n.*3313C>T) c.*732C>T (n.*732C>T) c.2394C>T (p.His798=) c.228C>T (p.His76=) c.641C>T n.2933C>T c.2760C>T (p.His920=) c.2037C>T (p.His679=) c.588C>T (p.His196=) | |
2 | g.165344783T>A | CA349015614 | SCN2A | c.2791T>A (p.Ser931Thr) c.*1110T>A (n.*1110T>A) c.*778T>A (n.*778T>A) c.*3314T>A (n.*3314T>A) c.*733T>A (n.*733T>A) c.2395T>A (p.Ser799Thr) c.229T>A (p.Ser77Thr) c.642T>A n.2934T>A c.2761T>A (p.Ser921Thr) c.2038T>A (p.Ser680Thr) c.589T>A (p.Ser197Thr) | |
2 | g.165344783T>C | CA349015623 | SCN2A | c.2791T>C (p.Ser931Pro) c.*1110T>C (n.*1110T>C) c.*778T>C (n.*778T>C) c.*3314T>C (n.*3314T>C) c.*733T>C (n.*733T>C) c.2395T>C (p.Ser799Pro) c.229T>C (p.Ser77Pro) c.642T>C n.2934T>C c.2761T>C (p.Ser921Pro) c.2038T>C (p.Ser680Pro) c.589T>C (p.Ser197Pro) | |
2 | g.165344783T>G | CA349015638 | SCN2A | c.2791T>G (p.Ser931Ala) c.*1110T>G (n.*1110T>G) c.*778T>G (n.*778T>G) c.*3314T>G (n.*3314T>G) c.*733T>G (n.*733T>G) c.2395T>G (p.Ser799Ala) c.229T>G (p.Ser77Ala) c.642T>G n.2934T>G c.2761T>G (p.Ser921Ala) c.2038T>G (p.Ser680Ala) c.589T>G (p.Ser197Ala) | |
2 | g.165344784C>A | CA349015656 | SCN2A | c.2792C>A (p.Ser931Tyr) c.*1111C>A (n.*1111C>A) c.*779C>A (n.*779C>A) c.*3315C>A (n.*3315C>A) c.*734C>A (n.*734C>A) c.2396C>A (p.Ser799Tyr) c.230C>A (p.Ser77Tyr) c.643C>A n.2935C>A c.2762C>A (p.Ser921Tyr) c.2039C>A (p.Ser680Tyr) c.590C>A (p.Ser197Tyr) | ClinVar dbSNP |
2 | g.165344784C= | CA1304545530 | SCN2A | c.2792C= (p.Ser931=) c.*1111C= (n.*1111C=) c.*779C= (n.*779C=) c.*3315C= (n.*3315C=) c.*734C= (n.*734C=) c.2396C= (p.Ser799=) c.230C= (p.Ser77=) c.643C= n.2935C= c.2762C= (p.Ser921=) c.2039C= (p.Ser680=) c.590C= (p.Ser197=) | |
2 | g.165344784C>G | CA349015653 | SCN2A | c.2792C>G (p.Ser931Cys) c.*1111C>G (n.*1111C>G) c.*779C>G (n.*779C>G) c.*3315C>G (n.*3315C>G) c.*734C>G (n.*734C>G) c.2396C>G (p.Ser799Cys) c.230C>G (p.Ser77Cys) c.643C>G n.2935C>G c.2762C>G (p.Ser921Cys) c.2039C>G (p.Ser680Cys) c.590C>G (p.Ser197Cys) | |
2 | g.165344784C>T | CA349015641 | SCN2A | c.2792C>T (p.Ser931Phe) c.*1111C>T (n.*1111C>T) c.*779C>T (n.*779C>T) c.*3315C>T (n.*3315C>T) c.*734C>T (n.*734C>T) c.2396C>T (p.Ser799Phe) c.230C>T (p.Ser77Phe) c.643C>T n.2935C>T c.2762C>T (p.Ser921Phe) c.2039C>T (p.Ser680Phe) c.590C>T (p.Ser197Phe) | COSMIC COSMIC |
2 | g.165344785C>A | CA429972577 | SCN2A | c.2793C>A (p.Ser931=) c.*1112C>A (n.*1112C>A) c.*780C>A (n.*780C>A) c.*3316C>A (n.*3316C>A) c.*735C>A (n.*735C>A) c.2397C>A (p.Ser799=) c.231C>A (p.Ser77=) c.644C>A n.2936C>A c.2763C>A (p.Ser921=) c.2040C>A (p.Ser680=) c.591C>A (p.Ser197=) | |
2 | g.165344785C= | CA1304545531 | SCN2A | c.2793C= (p.Ser931=) c.*1112C= (n.*1112C=) c.*780C= (n.*780C=) c.*3316C= (n.*3316C=) c.*735C= (n.*735C=) c.2397C= (p.Ser799=) c.231C= (p.Ser77=) c.644C= n.2936C= c.2763C= (p.Ser921=) c.2040C= (p.Ser680=) c.591C= (p.Ser197=) | |
2 | g.165344785C>G | CA429972578 | SCN2A | c.2793C>G (p.Ser931=) c.*1112C>G (n.*1112C>G) c.*780C>G (n.*780C>G) c.*3316C>G (n.*3316C>G) c.*735C>G (n.*735C>G) c.2397C>G (p.Ser799=) c.231C>G (p.Ser77=) c.644C>G n.2936C>G c.2763C>G (p.Ser921=) c.2040C>G (p.Ser680=) c.591C>G (p.Ser197=) | |
2 | g.165344785C>T | CA429972579 | SCN2A | c.2793C>T (p.Ser931=) c.*1112C>T (n.*1112C>T) c.*780C>T (n.*780C>T) c.*3316C>T (n.*3316C>T) c.*735C>T (n.*735C>T) c.2397C>T (p.Ser799=) c.231C>T (p.Ser77=) c.644C>T n.2936C>T c.2763C>T (p.Ser921=) c.2040C>T (p.Ser680=) c.591C>T (p.Ser197=) | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.165344786T>A | CA349015661 | SCN2A | c.2794T>A (p.Phe932Ile) c.*1113T>A (n.*1113T>A) c.*781T>A (n.*781T>A) c.*3317T>A (n.*3317T>A) c.*736T>A (n.*736T>A) c.2398T>A (p.Phe800Ile) c.232T>A (p.Phe78Ile) c.645T>A n.2937T>A c.2764T>A (p.Phe922Ile) c.2041T>A (p.Phe681Ile) c.592T>A (p.Phe198Ile) | COSMIC COSMIC |
2 | g.165344786T>C | CA349015663 | SCN2A | c.2794T>C (p.Phe932Leu) c.*1113T>C (n.*1113T>C) c.*781T>C (n.*781T>C) c.*3317T>C (n.*3317T>C) c.*736T>C (n.*736T>C) c.2398T>C (p.Phe800Leu) c.232T>C (p.Phe78Leu) c.645T>C n.2937T>C c.2764T>C (p.Phe922Leu) c.2041T>C (p.Phe681Leu) c.592T>C (p.Phe198Leu) | |
2 | g.165344786T>G | CA349015667 | SCN2A | c.2794T>G (p.Phe932Val) c.*1113T>G (n.*1113T>G) c.*781T>G (n.*781T>G) c.*3317T>G (n.*3317T>G) c.*736T>G (n.*736T>G) c.2398T>G (p.Phe800Val) c.232T>G (p.Phe78Val) c.645T>G n.2937T>G c.2764T>G (p.Phe922Val) c.2041T>G (p.Phe681Val) c.592T>G (p.Phe198Val) | |
2 | g.165344787T>A | CA349015668 | SCN2A | c.2795T>A (p.Phe932Tyr) c.*1114T>A (n.*1114T>A) c.*782T>A (n.*782T>A) c.*3318T>A (n.*3318T>A) c.*737T>A (n.*737T>A) c.2399T>A (p.Phe800Tyr) c.233T>A (p.Phe78Tyr) c.646T>A n.2938T>A c.2765T>A (p.Phe922Tyr) c.2042T>A (p.Phe681Tyr) c.593T>A (p.Phe198Tyr) | |
2 | g.165344787T>C | CA349015669 | SCN2A | c.2795T>C (p.Phe932Ser) c.*1114T>C (n.*1114T>C) c.*782T>C (n.*782T>C) c.*3318T>C (n.*3318T>C) c.*737T>C (n.*737T>C) c.2399T>C (p.Phe800Ser) c.233T>C (p.Phe78Ser) c.646T>C n.2938T>C c.2765T>C (p.Phe922Ser) c.2042T>C (p.Phe681Ser) c.593T>C (p.Phe198Ser) | dbSNP |
2 | g.165344787T>G | CA349015670 | SCN2A | c.2795T>G (p.Phe932Cys) c.*1114T>G (n.*1114T>G) c.*782T>G (n.*782T>G) c.*3318T>G (n.*3318T>G) c.*737T>G (n.*737T>G) c.2399T>G (p.Phe800Cys) c.233T>G (p.Phe78Cys) c.646T>G n.2938T>G c.2765T>G (p.Phe922Cys) c.2042T>G (p.Phe681Cys) c.593T>G (p.Phe198Cys) | |
2 | g.165344787T= | CA1304545532 | SCN2A | c.2795T= (p.Phe932=) c.*1114T= (n.*1114T=) c.*782T= (n.*782T=) c.*3318T= (n.*3318T=) c.*737T= (n.*737T=) c.2399T= (p.Phe800=) c.233T= (p.Phe78=) c.646T= n.2938T= c.2765T= (p.Phe922=) c.2042T= (p.Phe681=) c.593T= (p.Phe198=) | |
2 | g.165344788C>A | CA349015671 | SCN2A | c.2796C>A (p.Phe932Leu) c.*1115C>A (n.*1115C>A) c.*783C>A (n.*783C>A) c.*3319C>A (n.*3319C>A) c.*738C>A (n.*738C>A) c.2400C>A (p.Phe800Leu) c.234C>A (p.Phe78Leu) c.647C>A n.2939C>A c.2766C>A (p.Phe922Leu) c.2043C>A (p.Phe681Leu) c.594C>A (p.Phe198Leu) | |
2 | g.165344788C>G | CA349015672 | SCN2A | c.2796C>G (p.Phe932Leu) c.*1115C>G (n.*1115C>G) c.*783C>G (n.*783C>G) c.*3319C>G (n.*3319C>G) c.*738C>G (n.*738C>G) c.2400C>G (p.Phe800Leu) c.234C>G (p.Phe78Leu) c.647C>G n.2939C>G c.2766C>G (p.Phe922Leu) c.2043C>G (p.Phe681Leu) c.594C>G (p.Phe198Leu) | |
2 | g.165344788C>T | CA429972585 | SCN2A | c.2796C>T (p.Phe932=) c.*1115C>T (n.*1115C>T) c.*783C>T (n.*783C>T) c.*3319C>T (n.*3319C>T) c.*738C>T (n.*738C>T) c.2400C>T (p.Phe800=) c.234C>T (p.Phe78=) c.647C>T n.2939C>T c.2766C>T (p.Phe922=) c.2043C>T (p.Phe681=) c.594C>T (p.Phe198=) | |
2 | g.165344789C>A | CA349015673 | SCN2A | c.2797C>A (p.Leu933Met) c.*1116C>A (n.*1116C>A) c.*784C>A (n.*784C>A) c.*3320C>A (n.*3320C>A) c.*739C>A (n.*739C>A) c.2401C>A (p.Leu801Met) c.235C>A (p.Leu79Met) c.648C>A n.2940C>A c.2767C>A (p.Leu923Met) c.2044C>A (p.Leu682Met) c.595C>A (p.Leu199Met) | COSMIC COSMIC |
2 | g.165344789C>G | CA349015674 | SCN2A | c.2797C>G (p.Leu933Val) c.*1116C>G (n.*1116C>G) c.*784C>G (n.*784C>G) c.*3320C>G (n.*3320C>G) c.*739C>G (n.*739C>G) c.2401C>G (p.Leu801Val) c.235C>G (p.Leu79Val) c.648C>G n.2940C>G c.2767C>G (p.Leu923Val) c.2044C>G (p.Leu682Val) c.595C>G (p.Leu199Val) | |
2 | g.165344789C>T | CA429972589 | SCN2A | c.2797C>T (p.Leu933=) c.*1116C>T (n.*1116C>T) c.*784C>T (n.*784C>T) c.*3320C>T (n.*3320C>T) c.*739C>T (n.*739C>T) c.2401C>T (p.Leu801=) c.235C>T (p.Leu79=) c.648C>T n.2940C>T c.2767C>T (p.Leu923=) c.2044C>T (p.Leu682=) c.595C>T (p.Leu199=) | |
2 | g.165344790T>A | CA349015678 | SCN2A | c.2798T>A (p.Leu933Gln) c.*1117T>A (n.*1117T>A) c.*785T>A (n.*785T>A) c.*3321T>A (n.*3321T>A) c.*740T>A (n.*740T>A) c.2402T>A (p.Leu801Gln) c.236T>A (p.Leu79Gln) c.649T>A n.2941T>A c.2768T>A (p.Leu923Gln) c.2045T>A (p.Leu682Gln) c.596T>A (p.Leu199Gln) | |
2 | g.165344790T>C | CA349015680 | SCN2A | c.2798T>C (p.Leu933Pro) c.*1117T>C (n.*1117T>C) c.*785T>C (n.*785T>C) c.*3321T>C (n.*3321T>C) c.*740T>C (n.*740T>C) c.2402T>C (p.Leu801Pro) c.236T>C (p.Leu79Pro) c.649T>C n.2941T>C c.2768T>C (p.Leu923Pro) c.2045T>C (p.Leu682Pro) c.596T>C (p.Leu199Pro) | |
2 | g.165344790T>G | CA349015683 | SCN2A | c.2798T>G (p.Leu933Arg) c.*1117T>G (n.*1117T>G) c.*785T>G (n.*785T>G) c.*3321T>G (n.*3321T>G) c.*740T>G (n.*740T>G) c.2402T>G (p.Leu801Arg) c.236T>G (p.Leu79Arg) c.649T>G n.2941T>G c.2768T>G (p.Leu923Arg) c.2045T>G (p.Leu682Arg) c.596T>G (p.Leu199Arg) | |
2 | g.165344791G>A | CA1940021 | SCN2A | c.2799G>A (p.Leu933=) c.*1118G>A (n.*1118G>A) c.*786G>A (n.*786G>A) c.*3322G>A (n.*3322G>A) c.*741G>A (n.*741G>A) c.2403G>A (p.Leu801=) c.237G>A (p.Leu79=) c.650G>A n.2942G>A c.2769G>A (p.Leu923=) c.2046G>A (p.Leu682=) c.597G>A (p.Leu199=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.165344791G>C | CA429972593 | SCN2A | c.2799G>C (p.Leu933=) c.*1118G>C (n.*1118G>C) c.*786G>C (n.*786G>C) c.*3322G>C (n.*3322G>C) c.*741G>C (n.*741G>C) c.2403G>C (p.Leu801=) c.237G>C (p.Leu79=) c.650G>C n.2942G>C c.2769G>C (p.Leu923=) c.2046G>C (p.Leu682=) c.597G>C (p.Leu199=) | |
2 | g.165344791G= | CA1304545533 | SCN2A | c.2799G= (p.Leu933=) c.*1118G= (n.*1118G=) c.*786G= (n.*786G=) c.*3322G= (n.*3322G=) c.*741G= (n.*741G=) c.2403G= (p.Leu801=) c.237G= (p.Leu79=) c.650G= n.2942G= c.2769G= (p.Leu923=) c.2046G= (p.Leu682=) c.597G= (p.Leu199=) | |
2 | g.165344791G>T | CA429972595 | SCN2A | c.2799G>T (p.Leu933=) c.*1118G>T (n.*1118G>T) c.*786G>T (n.*786G>T) c.*3322G>T (n.*3322G>T) c.*741G>T (n.*741G>T) c.2403G>T (p.Leu801=) c.237G>T (p.Leu79=) c.650G>T n.2942G>T c.2769G>T (p.Leu923=) c.2046G>T (p.Leu682=) c.597G>T (p.Leu199=) | |
2 | g.165344792A>C | CA349015698 | SCN2A | c.2800A>C (p.Ile934Leu) c.*1119A>C (n.*1119A>C) c.*787A>C (n.*787A>C) c.*3323A>C (n.*3323A>C) c.*742A>C (n.*742A>C) c.2404A>C (p.Ile802Leu) c.238A>C (p.Ile80Leu) c.651A>C n.2943A>C c.2770A>C (p.Ile924Leu) c.2047A>C (p.Ile683Leu) c.598A>C (p.Ile200Leu) | |
2 | g.165344792A>G | CA349015700 | SCN2A | c.2800A>G (p.Ile934Val) c.*1119A>G (n.*1119A>G) c.*787A>G (n.*787A>G) c.*3323A>G (n.*3323A>G) c.*742A>G (n.*742A>G) c.2404A>G (p.Ile802Val) c.238A>G (p.Ile80Val) c.651A>G n.2943A>G c.2770A>G (p.Ile924Val) c.2047A>G (p.Ile683Val) c.598A>G (p.Ile200Val) | COSMIC COSMIC |
2 | g.165344792A>T | CA349015693 | SCN2A | c.2800A>T (p.Ile934Phe) c.*1119A>T (n.*1119A>T) c.*787A>T (n.*787A>T) c.*3323A>T (n.*3323A>T) c.*742A>T (n.*742A>T) c.2404A>T (p.Ile802Phe) c.238A>T (p.Ile80Phe) c.651A>T n.2943A>T c.2770A>T (p.Ile924Phe) c.2047A>T (p.Ile683Phe) c.598A>T (p.Ile200Phe) | |
2 | g.165344793T>A | CA349015707 | SCN2A | c.2801T>A (p.Ile934Asn) c.*1120T>A (n.*1120T>A) c.*788T>A (n.*788T>A) c.*3324T>A (n.*3324T>A) c.*743T>A (n.*743T>A) c.2405T>A (p.Ile802Asn) c.239T>A (p.Ile80Asn) c.652T>A n.2944T>A c.2771T>A (p.Ile924Asn) c.2048T>A (p.Ile683Asn) c.599T>A (p.Ile200Asn) | |
2 | g.165344793T>C | CA349015704 | SCN2A | c.2801T>C (p.Ile934Thr) c.*1120T>C (n.*1120T>C) c.*788T>C (n.*788T>C) c.*3324T>C (n.*3324T>C) c.*743T>C (n.*743T>C) c.2405T>C (p.Ile802Thr) c.239T>C (p.Ile80Thr) c.652T>C n.2944T>C c.2771T>C (p.Ile924Thr) c.2048T>C (p.Ile683Thr) c.599T>C (p.Ile200Thr) | COSMIC COSMIC |
2 | g.165344793T>G | CA349015715 | SCN2A | c.2801T>G (p.Ile934Ser) c.*1120T>G (n.*1120T>G) c.*788T>G (n.*788T>G) c.*3324T>G (n.*3324T>G) c.*743T>G (n.*743T>G) c.2405T>G (p.Ile802Ser) c.239T>G (p.Ile80Ser) c.652T>G n.2944T>G c.2771T>G (p.Ile924Ser) c.2048T>G (p.Ile683Ser) c.599T>G (p.Ile200Ser) | |
2 | g.165344794C>A | CA429972598 | SCN2A | c.2802C>A (p.Ile934=) c.*1121C>A (n.*1121C>A) c.*789C>A (n.*789C>A) c.*3325C>A (n.*3325C>A) c.*744C>A (n.*744C>A) c.2406C>A (p.Ile802=) c.240C>A (p.Ile80=) c.653C>A n.2945C>A c.2772C>A (p.Ile924=) c.2049C>A (p.Ile683=) c.600C>A (p.Ile200=) | gnomAD v4 COSMIC |
2 | g.165344794C= | CA1304545534 | SCN2A | c.2802C= (p.Ile934=) c.*1121C= (n.*1121C=) c.*789C= (n.*789C=) c.*3325C= (n.*3325C=) c.*744C= (n.*744C=) c.2406C= (p.Ile802=) c.240C= (p.Ile80=) c.653C= n.2945C= c.2772C= (p.Ile924=) c.2049C= (p.Ile683=) c.600C= (p.Ile200=) | |
2 | g.165344794C>G | CA349015719 | SCN2A | c.2802C>G (p.Ile934Met) c.*1121C>G (n.*1121C>G) c.*789C>G (n.*789C>G) c.*3325C>G (n.*3325C>G) c.*744C>G (n.*744C>G) c.2406C>G (p.Ile802Met) c.240C>G (p.Ile80Met) c.653C>G n.2945C>G c.2772C>G (p.Ile924Met) c.2049C>G (p.Ile683Met) c.600C>G (p.Ile200Met) | |
2 | g.165344794C>T | CA1940022 | SCN2A | c.2802C>T (p.Ile934=) c.*1121C>T (n.*1121C>T) c.*789C>T (n.*789C>T) c.*3325C>T (n.*3325C>T) c.*744C>T (n.*744C>T) c.2406C>T (p.Ile802=) c.240C>T (p.Ile80=) c.653C>T n.2945C>T c.2772C>T (p.Ile924=) c.2049C>T (p.Ile683=) c.600C>T (p.Ile200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344795G>A | CA349015724 | SCN2A | c.2803G>A (p.Val935Met) c.*1122G>A (n.*1122G>A) c.*790G>A (n.*790G>A) c.*3326G>A (n.*3326G>A) c.*745G>A (n.*745G>A) c.2407G>A (p.Val803Met) c.241G>A (p.Val81Met) c.654G>A n.2946G>A c.2773G>A (p.Val925Met) c.2050G>A (p.Val684Met) c.601G>A (p.Val201Met) | dbSNP COSMIC COSMIC |
2 | g.165344795G>C | CA349015726 | SCN2A | c.2803G>C (p.Val935Leu) c.*1122G>C (n.*1122G>C) c.*790G>C (n.*790G>C) c.*3326G>C (n.*3326G>C) c.*745G>C (n.*745G>C) c.2407G>C (p.Val803Leu) c.241G>C (p.Val81Leu) c.654G>C n.2946G>C c.2773G>C (p.Val925Leu) c.2050G>C (p.Val684Leu) c.601G>C (p.Val201Leu) | |
2 | g.165344795G= | CA1304545535 | SCN2A | c.2803G= (p.Val935=) c.*1122G= (n.*1122G=) c.*790G= (n.*790G=) c.*3326G= (n.*3326G=) c.*745G= (n.*745G=) c.2407G= (p.Val803=) c.241G= (p.Val81=) c.654G= n.2946G= c.2773G= (p.Val925=) c.2050G= (p.Val684=) c.601G= (p.Val201=) | |
2 | g.165344795G>T | CA349015731 | SCN2A | c.2803G>T (p.Val935Leu) c.*1122G>T (n.*1122G>T) c.*790G>T (n.*790G>T) c.*3326G>T (n.*3326G>T) c.*745G>T (n.*745G>T) c.2407G>T (p.Val803Leu) c.241G>T (p.Val81Leu) c.654G>T n.2946G>T c.2773G>T (p.Val925Leu) c.2050G>T (p.Val684Leu) c.601G>T (p.Val201Leu) | |
2 | g.165344796T>A | CA349015733 | SCN2A | c.2804T>A (p.Val935Glu) c.*1123T>A (n.*1123T>A) c.*791T>A (n.*791T>A) c.*3327T>A (n.*3327T>A) c.*746T>A (n.*746T>A) c.2408T>A (p.Val803Glu) c.242T>A (p.Val81Glu) c.655T>A n.2947T>A c.2774T>A (p.Val925Glu) c.2051T>A (p.Val684Glu) c.602T>A (p.Val201Glu) | |
2 | g.165344796T>C | CA349015739 | SCN2A | c.2804T>C (p.Val935Ala) c.*1123T>C (n.*1123T>C) c.*791T>C (n.*791T>C) c.*3327T>C (n.*3327T>C) c.*746T>C (n.*746T>C) c.2408T>C (p.Val803Ala) c.242T>C (p.Val81Ala) c.655T>C n.2947T>C c.2774T>C (p.Val925Ala) c.2051T>C (p.Val684Ala) c.602T>C (p.Val201Ala) | |
2 | g.165344796T>G | CA349015742 | SCN2A | c.2804T>G (p.Val935Gly) c.*1123T>G (n.*1123T>G) c.*791T>G (n.*791T>G) c.*3327T>G (n.*3327T>G) c.*746T>G (n.*746T>G) c.2408T>G (p.Val803Gly) c.242T>G (p.Val81Gly) c.655T>G n.2947T>G c.2774T>G (p.Val925Gly) c.2051T>G (p.Val684Gly) c.602T>G (p.Val201Gly) | |
2 | g.165344797G>A | CA429972604 | SCN2A | c.2805G>A (p.Val935=) c.*1124G>A (n.*1124G>A) c.*792G>A (n.*792G>A) c.*3328G>A (n.*3328G>A) c.*747G>A (n.*747G>A) c.2409G>A (p.Val803=) c.243G>A (p.Val81=) c.656G>A n.2948G>A c.2775G>A (p.Val925=) c.2052G>A (p.Val684=) c.603G>A (p.Val201=) | |
2 | g.165344797G>C | CA429972607 | SCN2A | c.2805G>C (p.Val935=) c.*1124G>C (n.*1124G>C) c.*792G>C (n.*792G>C) c.*3328G>C (n.*3328G>C) c.*747G>C (n.*747G>C) c.2409G>C (p.Val803=) c.243G>C (p.Val81=) c.656G>C n.2948G>C c.2775G>C (p.Val925=) c.2052G>C (p.Val684=) c.603G>C (p.Val201=) | |
2 | g.165344797G>T | CA429972605 | SCN2A | c.2805G>T (p.Val935=) c.*1124G>T (n.*1124G>T) c.*792G>T (n.*792G>T) c.*3328G>T (n.*3328G>T) c.*747G>T (n.*747G>T) c.2409G>T (p.Val803=) c.243G>T (p.Val81=) c.656G>T n.2948G>T c.2775G>T (p.Val925=) c.2052G>T (p.Val684=) c.603G>T (p.Val201=) | |
2 | g.165344798T>A | CA349015745 | SCN2A | c.2806T>A (p.Phe936Ile) c.*1125T>A (n.*1125T>A) c.*793T>A (n.*793T>A) c.*3329T>A (n.*3329T>A) c.*748T>A (n.*748T>A) c.2410T>A (p.Phe804Ile) c.244T>A (p.Phe82Ile) c.657T>A n.2949T>A c.2776T>A (p.Phe926Ile) c.2053T>A (p.Phe685Ile) c.604T>A (p.Phe202Ile) | |
2 | g.165344798T>C | CA349015748 | SCN2A | c.2806T>C (p.Phe936Leu) c.*1125T>C (n.*1125T>C) c.*793T>C (n.*793T>C) c.*3329T>C (n.*3329T>C) c.*748T>C (n.*748T>C) c.2410T>C (p.Phe804Leu) c.244T>C (p.Phe82Leu) c.657T>C n.2949T>C c.2776T>C (p.Phe926Leu) c.2053T>C (p.Phe685Leu) c.604T>C (p.Phe202Leu) | |
2 | g.165344798T>G | CA349015751 | SCN2A | c.2806T>G (p.Phe936Val) c.*1125T>G (n.*1125T>G) c.*793T>G (n.*793T>G) c.*3329T>G (n.*3329T>G) c.*748T>G (n.*748T>G) c.2410T>G (p.Phe804Val) c.244T>G (p.Phe82Val) c.657T>G n.2949T>G c.2776T>G (p.Phe926Val) c.2053T>G (p.Phe685Val) c.604T>G (p.Phe202Val) | gnomAD v4 |
2 | g.165344799T>A | CA349015758 | SCN2A | c.2807T>A (p.Phe936Tyr) c.*1126T>A (n.*1126T>A) c.*794T>A (n.*794T>A) c.*3330T>A (n.*3330T>A) c.*749T>A (n.*749T>A) c.2411T>A (p.Phe804Tyr) c.245T>A (p.Phe82Tyr) c.658T>A n.2950T>A c.2777T>A (p.Phe926Tyr) c.2054T>A (p.Phe685Tyr) c.605T>A (p.Phe202Tyr) | gnomAD v4 |
2 | g.165344799T>C | CA349015756 | SCN2A | c.2807T>C (p.Phe936Ser) c.*1126T>C (n.*1126T>C) c.*794T>C (n.*794T>C) c.*3330T>C (n.*3330T>C) c.*749T>C (n.*749T>C) c.2411T>C (p.Phe804Ser) c.245T>C (p.Phe82Ser) c.658T>C n.2950T>C c.2777T>C (p.Phe926Ser) c.2054T>C (p.Phe685Ser) c.605T>C (p.Phe202Ser) | ClinVar |
2 | g.165344799T>G | CA349015754 | SCN2A | c.2807T>G (p.Phe936Cys) c.*1126T>G (n.*1126T>G) c.*794T>G (n.*794T>G) c.*3330T>G (n.*3330T>G) c.*749T>G (n.*749T>G) c.2411T>G (p.Phe804Cys) c.245T>G (p.Phe82Cys) c.658T>G n.2950T>G c.2777T>G (p.Phe926Cys) c.2054T>G (p.Phe685Cys) c.605T>G (p.Phe202Cys) | |
2 | g.165344800C>A | CA349015760 | SCN2A | c.2808C>A (p.Phe936Leu) c.*1127C>A (n.*1127C>A) c.*795C>A (n.*795C>A) c.*3331C>A (n.*3331C>A) c.*750C>A (n.*750C>A) c.2412C>A (p.Phe804Leu) c.246C>A (p.Phe82Leu) c.659C>A n.2951C>A c.2778C>A (p.Phe926Leu) c.2055C>A (p.Phe685Leu) c.606C>A (p.Phe202Leu) | |
2 | g.165344800C>G | CA349015763 | SCN2A | c.2808C>G (p.Phe936Leu) c.*1127C>G (n.*1127C>G) c.*795C>G (n.*795C>G) c.*3331C>G (n.*3331C>G) c.*750C>G (n.*750C>G) c.2412C>G (p.Phe804Leu) c.246C>G (p.Phe82Leu) c.659C>G n.2951C>G c.2778C>G (p.Phe926Leu) c.2055C>G (p.Phe685Leu) c.606C>G (p.Phe202Leu) | |
2 | g.165344800C>T | CA429972610 | SCN2A | c.2808C>T (p.Phe936=) c.*1127C>T (n.*1127C>T) c.*795C>T (n.*795C>T) c.*3331C>T (n.*3331C>T) c.*750C>T (n.*750C>T) c.2412C>T (p.Phe804=) c.246C>T (p.Phe82=) c.659C>T n.2951C>T c.2778C>T (p.Phe926=) c.2055C>T (p.Phe685=) c.606C>T (p.Phe202=) | |
2 | g.165344801C>A | CA349015766 | SCN2A | c.2809C>A (p.Arg937Ser) c.*1128C>A (n.*1128C>A) c.*796C>A (n.*796C>A) c.*3332C>A (n.*3332C>A) c.*751C>A (n.*751C>A) c.2413C>A (p.Arg805Ser) c.247C>A (p.Arg83Ser) c.660C>A n.2952C>A c.2779C>A (p.Arg927Ser) c.2056C>A (p.Arg686Ser) c.607C>A (p.Arg203Ser) | |
2 | g.165344801C= | CA1304545536 | SCN2A | c.2809C= (p.Arg937=) c.*1128C= (n.*1128C=) c.*796C= (n.*796C=) c.*3332C= (n.*3332C=) c.*751C= (n.*751C=) c.2413C= (p.Arg805=) c.247C= (p.Arg83=) c.660C= n.2952C= c.2779C= (p.Arg927=) c.2056C= (p.Arg686=) c.607C= (p.Arg203=) | |
2 | g.165344801C>G | CA349015772 | SCN2A | c.2809C>G (p.Arg937Gly) c.*1128C>G (n.*1128C>G) c.*796C>G (n.*796C>G) c.*3332C>G (n.*3332C>G) c.*751C>G (n.*751C>G) c.2413C>G (p.Arg805Gly) c.247C>G (p.Arg83Gly) c.660C>G n.2952C>G c.2779C>G (p.Arg927Gly) c.2056C>G (p.Arg686Gly) c.607C>G (p.Arg203Gly) | |
2 | g.165344801C>T | CA318186 | SCN2A | c.2809C>T (p.Arg937Cys) c.*1128C>T (n.*1128C>T) c.*796C>T (n.*796C>T) c.*3332C>T (n.*3332C>T) c.*751C>T (n.*751C>T) c.2413C>T (p.Arg805Cys) c.247C>T (p.Arg83Cys) c.660C>T n.2952C>T c.2779C>T (p.Arg927Cys) c.2056C>T (p.Arg686Cys) c.607C>T (p.Arg203Cys) | ClinVar dbSNP COSMIC COSMIC |
2 | g.165344802G>A | CA349015776 | SCN2A | c.2810G>A (p.Arg937His) c.*1129G>A (n.*1129G>A) c.*797G>A (n.*797G>A) c.*3333G>A (n.*3333G>A) c.*752G>A (n.*752G>A) c.2414G>A (p.Arg805His) c.248G>A (p.Arg83His) c.661G>A n.2953G>A c.2780G>A (p.Arg927His) c.2057G>A (p.Arg686His) c.608G>A (p.Arg203His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.165344802G>C | CA349015778 | SCN2A | c.2810G>C (p.Arg937Pro) c.*1129G>C (n.*1129G>C) c.*797G>C (n.*797G>C) c.*3333G>C (n.*3333G>C) c.*752G>C (n.*752G>C) c.2414G>C (p.Arg805Pro) c.248G>C (p.Arg83Pro) c.661G>C n.2953G>C c.2780G>C (p.Arg927Pro) c.2057G>C (p.Arg686Pro) c.608G>C (p.Arg203Pro) | |
2 | g.165344802G= | CA1304545537 | SCN2A | c.2810G= (p.Arg937=) c.*1129G= (n.*1129G=) c.*797G= (n.*797G=) c.*3333G= (n.*3333G=) c.*752G= (n.*752G=) c.2414G= (p.Arg805=) c.248G= (p.Arg83=) c.661G= n.2953G= c.2780G= (p.Arg927=) c.2057G= (p.Arg686=) c.608G= (p.Arg203=) | |
2 | g.165344802G>T | CA349015781 | SCN2A | c.2810G>T (p.Arg937Leu) c.*1129G>T (n.*1129G>T) c.*797G>T (n.*797G>T) c.*3333G>T (n.*3333G>T) c.*752G>T (n.*752G>T) c.2414G>T (p.Arg805Leu) c.248G>T (p.Arg83Leu) c.661G>T n.2953G>T c.2780G>T (p.Arg927Leu) c.2057G>T (p.Arg686Leu) c.608G>T (p.Arg203Leu) | |
2 | g.165344803C>A | CA429972614 | SCN2A | c.2811C>A (p.Arg937=) c.*1130C>A (n.*1130C>A) c.*798C>A (n.*798C>A) c.*3334C>A (n.*3334C>A) c.*753C>A (n.*753C>A) c.2415C>A (p.Arg805=) c.249C>A (p.Arg83=) c.662C>A n.2954C>A c.2781C>A (p.Arg927=) c.2058C>A (p.Arg686=) c.609C>A (p.Arg203=) | |
2 | g.165344803C= | CA1304545538 | SCN2A | c.2811C= (p.Arg937=) c.*1130C= (n.*1130C=) c.*798C= (n.*798C=) c.*3334C= (n.*3334C=) c.*753C= (n.*753C=) c.2415C= (p.Arg805=) c.249C= (p.Arg83=) c.662C= n.2954C= c.2781C= (p.Arg927=) c.2058C= (p.Arg686=) c.609C= (p.Arg203=) | |
2 | g.165344803C>G | CA429972615 | SCN2A | c.2811C>G (p.Arg937=) c.*1130C>G (n.*1130C>G) c.*798C>G (n.*798C>G) c.*3334C>G (n.*3334C>G) c.*753C>G (n.*753C>G) c.2415C>G (p.Arg805=) c.249C>G (p.Arg83=) c.662C>G n.2954C>G c.2781C>G (p.Arg927=) c.2058C>G (p.Arg686=) c.609C>G (p.Arg203=) | |
2 | g.165344803C>T | CA1940023 | SCN2A | c.2811C>T (p.Arg937=) c.*1130C>T (n.*1130C>T) c.*798C>T (n.*798C>T) c.*3334C>T (n.*3334C>T) c.*753C>T (n.*753C>T) c.2415C>T (p.Arg805=) c.249C>T (p.Arg83=) c.662C>T n.2954C>T c.2781C>T (p.Arg927=) c.2058C>T (p.Arg686=) c.609C>T (p.Arg203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.165344804G>A | CA349015785 | SCN2A | c.2812G>A (p.Val938Met) c.*1131G>A (n.*1131G>A) c.*799G>A (n.*799G>A) c.*3335G>A (n.*3335G>A) c.*754G>A (n.*754G>A) c.2416G>A (p.Val806Met) c.250G>A (p.Val84Met) c.663G>A n.2955G>A c.2782G>A (p.Val928Met) c.2059G>A (p.Val687Met) c.610G>A (p.Val204Met) | ClinVar gnomAD v4 |
2 | g.165344804G>C | CA349015786 | SCN2A | c.2812G>C (p.Val938Leu) c.*1131G>C (n.*1131G>C) c.*799G>C (n.*799G>C) c.*3335G>C (n.*3335G>C) c.*754G>C (n.*754G>C) c.2416G>C (p.Val806Leu) c.250G>C (p.Val84Leu) c.663G>C n.2955G>C c.2782G>C (p.Val928Leu) c.2059G>C (p.Val687Leu) c.610G>C (p.Val204Leu) | |
2 | g.165344804G>T | CA349015787 | SCN2A | c.2812G>T (p.Val938Leu) c.*1131G>T (n.*1131G>T) c.*799G>T (n.*799G>T) c.*3335G>T (n.*3335G>T) c.*754G>T (n.*754G>T) c.2416G>T (p.Val806Leu) c.250G>T (p.Val84Leu) c.663G>T n.2955G>T c.2782G>T (p.Val928Leu) c.2059G>T (p.Val687Leu) c.610G>T (p.Val204Leu) | |
2 | g.165344805T>A | CA349015793 | SCN2A | c.2813T>A (p.Val938Glu) c.*1132T>A (n.*1132T>A) c.*800T>A (n.*800T>A) c.*3336T>A (n.*3336T>A) c.*755T>A (n.*755T>A) c.2417T>A (p.Val806Glu) c.251T>A (p.Val84Glu) c.664T>A n.2956T>A c.2783T>A (p.Val928Glu) c.2060T>A (p.Val687Glu) c.611T>A (p.Val204Glu) | |
2 | g.165344805T>C | CA349015791 | SCN2A | c.2813T>C (p.Val938Ala) c.*1132T>C (n.*1132T>C) c.*800T>C (n.*800T>C) c.*3336T>C (n.*3336T>C) c.*755T>C (n.*755T>C) c.2417T>C (p.Val806Ala) c.251T>C (p.Val84Ala) c.664T>C n.2956T>C c.2783T>C (p.Val928Ala) c.2060T>C (p.Val687Ala) c.611T>C (p.Val204Ala) | |
2 | g.165344805T>G | CA349015788 | SCN2A | c.2813T>G (p.Val938Gly) c.*1132T>G (n.*1132T>G) c.*800T>G (n.*800T>G) c.*3336T>G (n.*3336T>G) c.*755T>G (n.*755T>G) c.2417T>G (p.Val806Gly) c.251T>G (p.Val84Gly) c.664T>G n.2956T>G c.2783T>G (p.Val928Gly) c.2060T>G (p.Val687Gly) c.611T>G (p.Val204Gly) | |
2 | g.165344806G>A | CA429972619 | SCN2A | c.2814G>A (p.Val938=) c.*1133G>A (n.*1133G>A) c.*801G>A (n.*801G>A) c.*3337G>A (n.*3337G>A) c.*756G>A (n.*756G>A) c.2418G>A (p.Val806=) c.252G>A (p.Val84=) c.665G>A n.2957G>A c.2784G>A (p.Val928=) c.2061G>A (p.Val687=) c.612G>A (p.Val204=) | |
2 | g.165344806G>C | CA429972620 | SCN2A | c.2814G>C (p.Val938=) c.*1133G>C (n.*1133G>C) c.*801G>C (n.*801G>C) c.*3337G>C (n.*3337G>C) c.*756G>C (n.*756G>C) c.2418G>C (p.Val806=) c.252G>C (p.Val84=) c.665G>C n.2957G>C c.2784G>C (p.Val928=) c.2061G>C (p.Val687=) c.612G>C (p.Val204=) | |
2 | g.165344806G>T | CA429972621 | SCN2A | c.2814G>T (p.Val938=) c.*1133G>T (n.*1133G>T) c.*801G>T (n.*801G>T) c.*3337G>T (n.*3337G>T) c.*756G>T (n.*756G>T) c.2418G>T (p.Val806=) c.252G>T (p.Val84=) c.665G>T n.2957G>T c.2784G>T (p.Val928=) c.2061G>T (p.Val687=) c.612G>T (p.Val204=) | gnomAD v4 |
2 | g.165344807C>A | CA349015797 | SCN2A | c.2815C>A (p.Leu939Met) c.*1134C>A (n.*1134C>A) c.*802C>A (n.*802C>A) c.*3338C>A (n.*3338C>A) c.*757C>A (n.*757C>A) c.2419C>A (p.Leu807Met) c.253C>A (p.Leu85Met) c.666C>A n.2958C>A c.2785C>A (p.Leu929Met) c.2062C>A (p.Leu688Met) c.613C>A (p.Leu205Met) | |
2 | g.165344807C>G | CA349015806 | SCN2A | c.2815C>G (p.Leu939Val) c.*1134C>G (n.*1134C>G) c.*802C>G (n.*802C>G) c.*3338C>G (n.*3338C>G) c.*757C>G (n.*757C>G) c.2419C>G (p.Leu807Val) c.253C>G (p.Leu85Val) c.666C>G n.2958C>G c.2785C>G (p.Leu929Val) c.2062C>G (p.Leu688Val) c.613C>G (p.Leu205Val) | ClinVar |
2 | g.165344807C>T | CA429972622 | SCN2A | c.2815C>T (p.Leu939=) c.*1134C>T (n.*1134C>T) c.*802C>T (n.*802C>T) c.*3338C>T (n.*3338C>T) c.*757C>T (n.*757C>T) c.2419C>T (p.Leu807=) c.253C>T (p.Leu85=) c.666C>T n.2958C>T c.2785C>T (p.Leu929=) c.2062C>T (p.Leu688=) c.613C>T (p.Leu205=) | gnomAD v4 COSMIC COSMIC |
2 | g.165344808T>A | CA349015809 | SCN2A | c.2816T>A (p.Leu939Gln) c.*1135T>A (n.*1135T>A) c.*803T>A (n.*803T>A) c.*3339T>A (n.*3339T>A) c.*758T>A (n.*758T>A) c.2420T>A (p.Leu807Gln) c.254T>A (p.Leu85Gln) c.667T>A n.2959T>A c.2786T>A (p.Leu929Gln) c.2063T>A (p.Leu688Gln) c.614T>A (p.Leu205Gln) | |
2 | g.165344808T>C | CA349015810 | SCN2A | c.2816T>C (p.Leu939Pro) c.*1135T>C (n.*1135T>C) c.*803T>C (n.*803T>C) c.*3339T>C (n.*3339T>C) c.*758T>C (n.*758T>C) c.2420T>C (p.Leu807Pro) c.254T>C (p.Leu85Pro) c.667T>C n.2959T>C c.2786T>C (p.Leu929Pro) c.2063T>C (p.Leu688Pro) c.614T>C (p.Leu205Pro) | ClinVar |
2 | g.165344808T>G | CA349015811 | SCN2A | c.2816T>G (p.Leu939Arg) c.*1135T>G (n.*1135T>G) c.*803T>G (n.*803T>G) c.*3339T>G (n.*3339T>G) c.*758T>G (n.*758T>G) c.2420T>G (p.Leu807Arg) c.254T>G (p.Leu85Arg) c.667T>G n.2959T>G c.2786T>G (p.Leu929Arg) c.2063T>G (p.Leu688Arg) c.614T>G (p.Leu205Arg) | |
2 | g.165344809G>A | CA429972624 | SCN2A | c.2817G>A (p.Leu939=) c.*1136G>A (n.*1136G>A) c.*804G>A (n.*804G>A) c.*3340G>A (n.*3340G>A) c.*759G>A (n.*759G>A) c.2421G>A (p.Leu807=) c.255G>A (p.Leu85=) c.668G>A n.2960G>A c.2787G>A (p.Leu929=) c.2064G>A (p.Leu688=) c.615G>A (p.Leu205=) | |
2 | g.165344809G>C | CA429972625 | SCN2A | c.2817G>C (p.Leu939=) c.*1136G>C (n.*1136G>C) c.*804G>C (n.*804G>C) c.*3340G>C (n.*3340G>C) c.*759G>C (n.*759G>C) c.2421G>C (p.Leu807=) c.255G>C (p.Leu85=) c.668G>C n.2960G>C c.2787G>C (p.Leu929=) c.2064G>C (p.Leu688=) c.615G>C (p.Leu205=) | gnomAD v4 |
2 | g.165344809G>T | CA429972626 | SCN2A | c.2817G>T (p.Leu939=) c.*1136G>T (n.*1136G>T) c.*804G>T (n.*804G>T) c.*3340G>T (n.*3340G>T) c.*759G>T (n.*759G>T) c.2421G>T (p.Leu807=) c.255G>T (p.Leu85=) c.668G>T n.2960G>T c.2787G>T (p.Leu929=) c.2064G>T (p.Leu688=) c.615G>T (p.Leu205=) | |
2 | g.165344810T>A | CA349015812 | SCN2A | c.2818T>A (p.Cys940Ser) c.*1137T>A (n.*1137T>A) c.*805T>A (n.*805T>A) c.*3341T>A (n.*3341T>A) c.*760T>A (n.*760T>A) c.2422T>A (p.Cys808Ser) c.256T>A (p.Cys86Ser) c.669T>A n.2961T>A c.2788T>A (p.Cys930Ser) c.2065T>A (p.Cys689Ser) c.616T>A (p.Cys206Ser) | |
2 | g.165344810T>C | CA349015813 | SCN2A | c.2818T>C (p.Cys940Arg) c.*1137T>C (n.*1137T>C) c.*805T>C (n.*805T>C) c.*3341T>C (n.*3341T>C) c.*760T>C (n.*760T>C) c.2422T>C (p.Cys808Arg) c.256T>C (p.Cys86Arg) c.669T>C n.2961T>C c.2788T>C (p.Cys930Arg) c.2065T>C (p.Cys689Arg) c.616T>C (p.Cys206Arg) | |
2 | g.165344810T>G | CA349015817 | SCN2A | c.2818T>G (p.Cys940Gly) c.*1137T>G (n.*1137T>G) c.*805T>G (n.*805T>G) c.*3341T>G (n.*3341T>G) c.*760T>G (n.*760T>G) c.2422T>G (p.Cys808Gly) c.256T>G (p.Cys86Gly) c.669T>G n.2961T>G c.2788T>G (p.Cys930Gly) c.2065T>G (p.Cys689Gly) c.616T>G (p.Cys206Gly) | |
2 | g.165344811G>A | CA349015820 | SCN2A | c.2819G>A (p.Cys940Tyr) c.*1138G>A (n.*1138G>A) c.*806G>A (n.*806G>A) c.*3342G>A (n.*3342G>A) c.*761G>A (n.*761G>A) c.2423G>A (p.Cys808Tyr) c.257G>A (p.Cys86Tyr) c.670G>A n.2962G>A c.2789G>A (p.Cys930Tyr) c.2066G>A (p.Cys689Tyr) c.617G>A (p.Cys206Tyr) | ClinVar |
2 | g.165344811G>C | CA349015824 | SCN2A | c.2819G>C (p.Cys940Ser) c.*1138G>C (n.*1138G>C) c.*806G>C (n.*806G>C) c.*3342G>C (n.*3342G>C) c.*761G>C (n.*761G>C) c.2423G>C (p.Cys808Ser) c.257G>C (p.Cys86Ser) c.670G>C n.2962G>C c.2789G>C (p.Cys930Ser) c.2066G>C (p.Cys689Ser) c.617G>C (p.Cys206Ser) | |
2 | g.165344811G>T | CA349015830 | SCN2A | c.2819G>T (p.Cys940Phe) c.*1138G>T (n.*1138G>T) c.*806G>T (n.*806G>T) c.*3342G>T (n.*3342G>T) c.*761G>T (n.*761G>T) c.2423G>T (p.Cys808Phe) c.257G>T (p.Cys86Phe) c.670G>T n.2962G>T c.2789G>T (p.Cys930Phe) c.2066G>T (p.Cys689Phe) c.617G>T (p.Cys206Phe) | |
2 | g.165344812T>A | CA349015834 | SCN2A | c.2820T>A (p.Cys940Ter) c.*1139T>A (n.*1139T>A) c.*807T>A (n.*807T>A) c.*3343T>A (n.*3343T>A) c.*762T>A (n.*762T>A) c.2424T>A (p.Cys808Ter) c.258T>A (p.Cys86Ter) c.671T>A n.2963T>A c.2790T>A (p.Cys930Ter) c.2067T>A (p.Cys689Ter) c.618T>A (p.Cys206Ter) | dbSNP |
2 | g.165344812T>C | CA429972628 | SCN2A | c.2820T>C (p.Cys940=) c.*1139T>C (n.*1139T>C) c.*807T>C (n.*807T>C) c.*3343T>C (n.*3343T>C) c.*762T>C (n.*762T>C) c.2424T>C (p.Cys808=) c.258T>C (p.Cys86=) c.671T>C n.2963T>C c.2790T>C (p.Cys930=) c.2067T>C (p.Cys689=) c.618T>C (p.Cys206=) | dbSNP gnomAD v4 |
2 | g.165344812T>G | CA349015836 | SCN2A | c.2820T>G (p.Cys940Trp) c.*1139T>G (n.*1139T>G) c.*807T>G (n.*807T>G) c.*3343T>G (n.*3343T>G) c.*762T>G (n.*762T>G) c.2424T>G (p.Cys808Trp) c.258T>G (p.Cys86Trp) c.671T>G n.2963T>G c.2790T>G (p.Cys930Trp) c.2067T>G (p.Cys689Trp) c.618T>G (p.Cys206Trp) | |
2 | g.165344812T= | CA1304545539 | SCN2A | c.2820T= (p.Cys940=) c.*1139T= (n.*1139T=) c.*807T= (n.*807T=) c.*3343T= (n.*3343T=) c.*762T= (n.*762T=) c.2424T= (p.Cys808=) c.258T= (p.Cys86=) c.671T= n.2963T= c.2790T= (p.Cys930=) c.2067T= (p.Cys689=) c.618T= (p.Cys206=) | |
2 | g.165344813G>A | CA349015844 | SCN2A | c.2821G>A (p.Gly941Arg) c.*1140G>A (n.*1140G>A) c.*808G>A (n.*808G>A) c.*3344G>A (n.*3344G>A) c.*763G>A (n.*763G>A) c.2425G>A (p.Gly809Arg) c.259G>A (p.Gly87Arg) c.672G>A n.2964G>A c.2791G>A (p.Gly931Arg) c.2068G>A (p.Gly690Arg) c.619G>A (p.Gly207Arg) | ClinVar gnomAD v4 COSMIC COSMIC |
2 | g.165344813G>C | CA349015840 | SCN2A | c.2821G>C (p.Gly941Arg) c.*1140G>C (n.*1140G>C) c.*808G>C (n.*808G>C) c.*3344G>C (n.*3344G>C) c.*763G>C (n.*763G>C) c.2425G>C (p.Gly809Arg) c.259G>C (p.Gly87Arg) c.672G>C n.2964G>C c.2791G>C (p.Gly931Arg) c.2068G>C (p.Gly690Arg) c.619G>C (p.Gly207Arg) | |
2 | g.165344813G= | CA1304545540 | SCN2A | c.2821G= (p.Gly941=) c.*1140G= (n.*1140G=) c.*808G= (n.*808G=) c.*3344G= (n.*3344G=) c.*763G= (n.*763G=) c.2425G= (p.Gly809=) c.259G= (p.Gly87=) c.672G= n.2964G= c.2791G= (p.Gly931=) c.2068G= (p.Gly690=) c.619G= (p.Gly207=) | |
2 | g.165344813G>T | CA349015842 | SCN2A | c.2821G>T (p.Gly941Ter) c.*1140G>T (n.*1140G>T) c.*808G>T (n.*808G>T) c.*3344G>T (n.*3344G>T) c.*763G>T (n.*763G>T) c.2425G>T (p.Gly809Ter) c.259G>T (p.Gly87Ter) c.672G>T n.2964G>T c.2791G>T (p.Gly931Ter) c.2068G>T (p.Gly690Ter) c.619G>T (p.Gly207Ter) | dbSNP |
2 | g.165344814G>A | CA349015847 | SCN2A | c.2822G>A (p.Gly941Glu) c.*1141G>A (n.*1141G>A) c.*809G>A (n.*809G>A) c.*3345G>A (n.*3345G>A) c.*764G>A (n.*764G>A) c.2426G>A (p.Gly809Glu) c.260G>A (p.Gly87Glu) c.673G>A n.2965G>A c.2792G>A (p.Gly931Glu) c.2069G>A (p.Gly690Glu) c.620G>A (p.Gly207Glu) | |
2 | g.165344814G>C | CA349015854 | SCN2A | c.2822G>C (p.Gly941Ala) c.*1141G>C (n.*1141G>C) c.*809G>C (n.*809G>C) c.*3345G>C (n.*3345G>C) c.*764G>C (n.*764G>C) c.2426G>C (p.Gly809Ala) c.260G>C (p.Gly87Ala) c.673G>C n.2965G>C c.2792G>C (p.Gly931Ala) c.2069G>C (p.Gly690Ala) c.620G>C (p.Gly207Ala) | |
2 | g.165344814G= | CA1304545541 | SCN2A | c.2822G= (p.Gly941=) c.*1141G= (n.*1141G=) c.*809G= (n.*809G=) c.*3345G= (n.*3345G=) c.*764G= (n.*764G=) c.2426G= (p.Gly809=) c.260G= (p.Gly87=) c.673G= n.2965G= c.2792G= (p.Gly931=) c.2069G= (p.Gly690=) c.620G= (p.Gly207=) | |
2 | g.165344814G>T | CA349015857 | SCN2A | c.2822G>T (p.Gly941Val) c.*1141G>T (n.*1141G>T) c.*809G>T (n.*809G>T) c.*3345G>T (n.*3345G>T) c.*764G>T (n.*764G>T) c.2426G>T (p.Gly809Val) c.260G>T (p.Gly87Val) c.673G>T n.2965G>T c.2792G>T (p.Gly931Val) c.2069G>T (p.Gly690Val) c.620G>T (p.Gly207Val) | |
2 | g.165344815A= | CA1304545542 | SCN2A | c.2823A= (p.Gly941=) c.*1142A= (n.*1142A=) c.*810A= (n.*810A=) c.*3346A= (n.*3346A=) c.*765A= (n.*765A=) c.2427A= (p.Gly809=) c.261A= (p.Gly87=) c.674A= n.2966A= c.2793A= (p.Gly931=) c.2070A= (p.Gly690=) c.621A= (p.Gly207=) | |
2 | g.165344815A>C | CA429972629 | SCN2A | c.2823A>C (p.Gly941=) c.*1142A>C (n.*1142A>C) c.*810A>C (n.*810A>C) c.*3346A>C (n.*3346A>C) c.*765A>C (n.*765A>C) c.2427A>C (p.Gly809=) c.261A>C (p.Gly87=) c.674A>C n.2966A>C c.2793A>C (p.Gly931=) c.2070A>C (p.Gly690=) c.621A>C (p.Gly207=) | |
2 | g.165344815A>G | CA429972630 | SCN2A | c.2823A>G (p.Gly941=) c.*1142A>G (n.*1142A>G) c.*810A>G (n.*810A>G) c.*3346A>G (n.*3346A>G) c.*765A>G (n.*765A>G) c.2427A>G (p.Gly809=) c.261A>G (p.Gly87=) c.674A>G n.2966A>G c.2793A>G (p.Gly931=) c.2070A>G (p.Gly690=) c.621A>G (p.Gly207=) | dbSNP |
2 | g.165344815A>T | CA429972631 | SCN2A | c.2823A>T (p.Gly941=) c.*1142A>T (n.*1142A>T) c.*810A>T (n.*810A>T) c.*3346A>T (n.*3346A>T) c.*765A>T (n.*765A>T) c.2427A>T (p.Gly809=) c.261A>T (p.Gly87=) c.674A>T n.2966A>T c.2793A>T (p.Gly931=) c.2070A>T (p.Gly690=) c.621A>T (p.Gly207=) | |
2 | g.165344815dup | CA16617266 | SCN2A | c.2823dup (p.Glu942ArgfsTer?) c.*1142dup (n.*1142dup) c.*810dup (n.*810dup) c.*3346dup (n.*3346dup) c.*765dup (n.*765dup) c.2427dup (p.Glu810ArgfsTer?) c.261dup (p.Glu88ArgfsTer?) c.674dup n.2966dup c.2793dup (p.Glu932ArgfsTer?) c.2070dup (p.Glu691ArgfsTer?) c.621dup (p.Glu208ArgfsTer?) | ClinVar dbSNP |
2 | g.165344816G>A | CA349015859 | SCN2A | c.2824G>A (p.Glu942Lys) c.*1143G>A (n.*1143G>A) c.*811G>A (n.*811G>A) c.*3347G>A (n.*3347G>A) c.*766G>A (n.*766G>A) c.2428G>A (p.Glu810Lys) c.262G>A (p.Glu88Lys) c.675G>A n.2967G>A c.2794G>A (p.Glu932Lys) c.2071G>A (p.Glu691Lys) c.622G>A (p.Glu208Lys) | |
2 | g.165344816G>C | CA349015861 | SCN2A | c.2824G>C (p.Glu942Gln) c.*1143G>C (n.*1143G>C) c.*811G>C (n.*811G>C) c.*3347G>C (n.*3347G>C) c.*766G>C (n.*766G>C) c.2428G>C (p.Glu810Gln) c.262G>C (p.Glu88Gln) c.675G>C n.2967G>C c.2794G>C (p.Glu932Gln) c.2071G>C (p.Glu691Gln) c.622G>C (p.Glu208Gln) | |
2 | g.165344816G= | CA1304545543 | SCN2A | c.2824G= (p.Glu942=) c.*1143G= (n.*1143G=) c.*811G= (n.*811G=) c.*3347G= (n.*3347G=) c.*766G= (n.*766G=) c.2428G= (p.Glu810=) c.262G= (p.Glu88=) c.675G= n.2967G= c.2794G= (p.Glu932=) c.2071G= (p.Glu691=) c.622G= (p.Glu208=) | |
2 | g.165344816G>T | CA349015863 | SCN2A | c.2824G>T (p.Glu942Ter) c.*1143G>T (n.*1143G>T) c.*811G>T (n.*811G>T) c.*3347G>T (n.*3347G>T) c.*766G>T (n.*766G>T) c.2428G>T (p.Glu810Ter) c.262G>T (p.Glu88Ter) c.675G>T n.2967G>T c.2794G>T (p.Glu932Ter) c.2071G>T (p.Glu691Ter) c.622G>T (p.Glu208Ter) | dbSNP |
2 | g.165344817A>C | CA349015867 | SCN2A | c.2825A>C (p.Glu942Ala) c.*1144A>C (n.*1144A>C) c.*812A>C (n.*812A>C) c.*3348A>C (n.*3348A>C) c.*767A>C (n.*767A>C) c.2429A>C (p.Glu810Ala) c.263A>C (p.Glu88Ala) c.676A>C n.2968A>C c.2795A>C (p.Glu932Ala) c.2072A>C (p.Glu691Ala) c.623A>C (p.Glu208Ala) | |
2 | g.165344817A>G | CA349015868 | SCN2A | c.2825A>G (p.Glu942Gly) c.*1144A>G (n.*1144A>G) c.*812A>G (n.*812A>G) c.*3348A>G (n.*3348A>G) c.*767A>G (n.*767A>G) c.2429A>G (p.Glu810Gly) c.263A>G (p.Glu88Gly) c.676A>G n.2968A>G c.2795A>G (p.Glu932Gly) c.2072A>G (p.Glu691Gly) c.623A>G (p.Glu208Gly) | |
2 | g.165344817A>T | CA349015869 | SCN2A | c.2825A>T (p.Glu942Val) c.*1144A>T (n.*1144A>T) c.*812A>T (n.*812A>T) c.*3348A>T (n.*3348A>T) c.*767A>T (n.*767A>T) c.2429A>T (p.Glu810Val) c.263A>T (p.Glu88Val) c.676A>T n.2968A>T c.2795A>T (p.Glu932Val) c.2072A>T (p.Glu691Val) c.623A>T (p.Glu208Val) | |
2 | g.165344818G>A | CA1940024 | SCN2A | c.2826G>A (p.Glu942=) c.*1145G>A (n.*1145G>A) c.*813G>A (n.*813G>A) c.*3349G>A (n.*3349G>A) c.*768G>A (n.*768G>A) c.2430G>A (p.Glu810=) c.264G>A (p.Glu88=) c.677G>A n.2969G>A c.2796G>A (p.Glu932=) c.2073G>A (p.Glu691=) c.624G>A (p.Glu208=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344818G>C | CA349015874 | SCN2A | c.2826G>C (p.Glu942Asp) c.*1145G>C (n.*1145G>C) c.*813G>C (n.*813G>C) c.*3349G>C (n.*3349G>C) c.*768G>C (n.*768G>C) c.2430G>C (p.Glu810Asp) c.264G>C (p.Glu88Asp) c.677G>C n.2969G>C c.2796G>C (p.Glu932Asp) c.2073G>C (p.Glu691Asp) c.624G>C (p.Glu208Asp) | |
2 | g.165344818G= | CA1304545544 | SCN2A | c.2826G= (p.Glu942=) c.*1145G= (n.*1145G=) c.*813G= (n.*813G=) c.*3349G= (n.*3349G=) c.*768G= (n.*768G=) c.2430G= (p.Glu810=) c.264G= (p.Glu88=) c.677G= n.2969G= c.2796G= (p.Glu932=) c.2073G= (p.Glu691=) c.624G= (p.Glu208=) | |
2 | g.165344818G>T | CA349015876 | SCN2A | c.2826G>T (p.Glu942Asp) c.*1145G>T (n.*1145G>T) c.*813G>T (n.*813G>T) c.*3349G>T (n.*3349G>T) c.*768G>T (n.*768G>T) c.2430G>T (p.Glu810Asp) c.264G>T (p.Glu88Asp) c.677G>T n.2969G>T c.2796G>T (p.Glu932Asp) c.2073G>T (p.Glu691Asp) c.624G>T (p.Glu208Asp) | |
2 | g.165344819T>A | CA349015883 | SCN2A | c.2827T>A (p.Trp943Arg) c.*1146T>A (n.*1146T>A) c.*814T>A (n.*814T>A) c.*3350T>A (n.*3350T>A) c.*769T>A (n.*769T>A) c.2431T>A (p.Trp811Arg) c.265T>A (p.Trp89Arg) c.678T>A n.2970T>A c.2797T>A (p.Trp933Arg) c.2074T>A (p.Trp692Arg) c.625T>A (p.Trp209Arg) | |
2 | g.165344819T>C | CA349015886 | SCN2A | c.2827T>C (p.Trp943Arg) c.*1146T>C (n.*1146T>C) c.*814T>C (n.*814T>C) c.*3350T>C (n.*3350T>C) c.*769T>C (n.*769T>C) c.2431T>C (p.Trp811Arg) c.265T>C (p.Trp89Arg) c.678T>C n.2970T>C c.2797T>C (p.Trp933Arg) c.2074T>C (p.Trp692Arg) c.625T>C (p.Trp209Arg) | |
2 | g.165344819T>G | CA349015879 | SCN2A | c.2827T>G (p.Trp943Gly) c.*1146T>G (n.*1146T>G) c.*814T>G (n.*814T>G) c.*3350T>G (n.*3350T>G) c.*769T>G (n.*769T>G) c.2431T>G (p.Trp811Gly) c.265T>G (p.Trp89Gly) c.678T>G n.2970T>G c.2797T>G (p.Trp933Gly) c.2074T>G (p.Trp692Gly) c.625T>G (p.Trp209Gly) | |
2 | g.165344820G>A | CA349015897 | SCN2A | c.2828G>A (p.Trp943Ter) c.*1147G>A (n.*1147G>A) c.*815G>A (n.*815G>A) c.*3351G>A (n.*3351G>A) c.*770G>A (n.*770G>A) c.2432G>A (p.Trp811Ter) c.266G>A (p.Trp89Ter) c.679G>A n.2971G>A c.2798G>A (p.Trp933Ter) c.2075G>A (p.Trp692Ter) c.626G>A (p.Trp209Ter) | dbSNP |
2 | g.165344820G>C | CA349015889 | SCN2A | c.2828G>C (p.Trp943Ser) c.*1147G>C (n.*1147G>C) c.*815G>C (n.*815G>C) c.*3351G>C (n.*3351G>C) c.*770G>C (n.*770G>C) c.2432G>C (p.Trp811Ser) c.266G>C (p.Trp89Ser) c.679G>C n.2971G>C c.2798G>C (p.Trp933Ser) c.2075G>C (p.Trp692Ser) c.626G>C (p.Trp209Ser) | |
2 | g.165344820G= | CA1304545545 | SCN2A | c.2828G= (p.Trp943=) c.*1147G= (n.*1147G=) c.*815G= (n.*815G=) c.*3351G= (n.*3351G=) c.*770G= (n.*770G=) c.2432G= (p.Trp811=) c.266G= (p.Trp89=) c.679G= n.2971G= c.2798G= (p.Trp933=) c.2075G= (p.Trp692=) c.626G= (p.Trp209=) | |
2 | g.165344820G>T | CA349015893 | SCN2A | c.2828G>T (p.Trp943Leu) c.*1147G>T (n.*1147G>T) c.*815G>T (n.*815G>T) c.*3351G>T (n.*3351G>T) c.*770G>T (n.*770G>T) c.2432G>T (p.Trp811Leu) c.266G>T (p.Trp89Leu) c.679G>T n.2971G>T c.2798G>T (p.Trp933Leu) c.2075G>T (p.Trp692Leu) c.626G>T (p.Trp209Leu) | |
2 | g.165344821G>A | CA349015900 | SCN2A | c.2829G>A (p.Trp943Ter) c.*1148G>A (n.*1148G>A) c.*816G>A (n.*816G>A) c.*3352G>A (n.*3352G>A) c.*771G>A (n.*771G>A) c.2433G>A (p.Trp811Ter) c.267G>A (p.Trp89Ter) c.680G>A n.2972G>A c.2799G>A (p.Trp933Ter) c.2076G>A (p.Trp692Ter) c.627G>A (p.Trp209Ter) | dbSNP |
2 | g.165344821G>C | CA349015902 | SCN2A | c.2829G>C (p.Trp943Cys) c.*1148G>C (n.*1148G>C) c.*816G>C (n.*816G>C) c.*3352G>C (n.*3352G>C) c.*771G>C (n.*771G>C) c.2433G>C (p.Trp811Cys) c.267G>C (p.Trp89Cys) c.680G>C n.2972G>C c.2799G>C (p.Trp933Cys) c.2076G>C (p.Trp692Cys) c.627G>C (p.Trp209Cys) | |
2 | g.165344821G= | CA1304545546 | SCN2A | c.2829G= (p.Trp943=) c.*1148G= (n.*1148G=) c.*816G= (n.*816G=) c.*3352G= (n.*3352G=) c.*771G= (n.*771G=) c.2433G= (p.Trp811=) c.267G= (p.Trp89=) c.680G= n.2972G= c.2799G= (p.Trp933=) c.2076G= (p.Trp692=) c.627G= (p.Trp209=) | |
2 | g.165344821G>T | CA349015906 | SCN2A | c.2829G>T (p.Trp943Cys) c.*1148G>T (n.*1148G>T) c.*816G>T (n.*816G>T) c.*3352G>T (n.*3352G>T) c.*771G>T (n.*771G>T) c.2433G>T (p.Trp811Cys) c.267G>T (p.Trp89Cys) c.680G>T n.2972G>T c.2799G>T (p.Trp933Cys) c.2076G>T (p.Trp692Cys) c.627G>T (p.Trp209Cys) | |
2 | g.165344822A>C | CA349015910 | SCN2A | c.2830A>C (p.Ile944Leu) c.*1149A>C (n.*1149A>C) c.*817A>C (n.*817A>C) c.*3353A>C (n.*3353A>C) c.*772A>C (n.*772A>C) c.2434A>C (p.Ile812Leu) c.268A>C (p.Ile90Leu) c.681A>C n.2973A>C c.2800A>C (p.Ile934Leu) c.2077A>C (p.Ile693Leu) c.628A>C (p.Ile210Leu) | |
2 | g.165344822A>G | CA349015912 | SCN2A | c.2830A>G (p.Ile944Val) c.*1149A>G (n.*1149A>G) c.*817A>G (n.*817A>G) c.*3353A>G (n.*3353A>G) c.*772A>G (n.*772A>G) c.2434A>G (p.Ile812Val) c.268A>G (p.Ile90Val) c.681A>G n.2973A>G c.2800A>G (p.Ile934Val) c.2077A>G (p.Ile693Val) c.628A>G (p.Ile210Val) | |
2 | g.165344822A>T | CA349015915 | SCN2A | c.2830A>T (p.Ile944Leu) c.*1149A>T (n.*1149A>T) c.*817A>T (n.*817A>T) c.*3353A>T (n.*3353A>T) c.*772A>T (n.*772A>T) c.2434A>T (p.Ile812Leu) c.268A>T (p.Ile90Leu) c.681A>T n.2973A>T c.2800A>T (p.Ile934Leu) c.2077A>T (p.Ile693Leu) c.628A>T (p.Ile210Leu) | |
2 | g.165344823T>A | CA349015919 | SCN2A | c.2831T>A (p.Ile944Lys) c.*1150T>A (n.*1150T>A) c.*818T>A (n.*818T>A) c.*3354T>A (n.*3354T>A) c.*773T>A (n.*773T>A) c.2435T>A (p.Ile812Lys) c.269T>A (p.Ile90Lys) c.682T>A n.2974T>A c.2801T>A (p.Ile934Lys) c.2078T>A (p.Ile693Lys) c.629T>A (p.Ile210Lys) | |
2 | g.165344823T>C | CA349015922 | SCN2A | c.2831T>C (p.Ile944Thr) c.*1150T>C (n.*1150T>C) c.*818T>C (n.*818T>C) c.*3354T>C (n.*3354T>C) c.*773T>C (n.*773T>C) c.2435T>C (p.Ile812Thr) c.269T>C (p.Ile90Thr) c.682T>C n.2974T>C c.2801T>C (p.Ile934Thr) c.2078T>C (p.Ile693Thr) c.629T>C (p.Ile210Thr) | gnomAD v4 |
2 | g.165344823T>G | CA349015931 | SCN2A | c.2831T>G (p.Ile944Arg) c.*1150T>G (n.*1150T>G) c.*818T>G (n.*818T>G) c.*3354T>G (n.*3354T>G) c.*773T>G (n.*773T>G) c.2435T>G (p.Ile812Arg) c.269T>G (p.Ile90Arg) c.682T>G n.2974T>G c.2801T>G (p.Ile934Arg) c.2078T>G (p.Ile693Arg) c.629T>G (p.Ile210Arg) | |
2 | g.165344824A= | CA1304545547 | SCN2A | c.2832A= (p.Ile944=) c.*1151A= (n.*1151A=) c.*819A= (n.*819A=) c.*3355A= (n.*3355A=) c.*774A= (n.*774A=) c.2436A= (p.Ile812=) c.270A= (p.Ile90=) c.683A= n.2975A= c.2802A= (p.Ile934=) c.2079A= (p.Ile693=) c.630A= (p.Ile210=) | |
2 | g.165344824A>C | CA429972640 | SCN2A | c.2832A>C (p.Ile944=) c.*1151A>C (n.*1151A>C) c.*819A>C (n.*819A>C) c.*3355A>C (n.*3355A>C) c.*774A>C (n.*774A>C) c.2436A>C (p.Ile812=) c.270A>C (p.Ile90=) c.683A>C n.2975A>C c.2802A>C (p.Ile934=) c.2079A>C (p.Ile693=) c.630A>C (p.Ile210=) | |
2 | g.165344824A>G | CA59720128 | SCN2A | c.2832A>G (p.Ile944Met) c.*1151A>G (n.*1151A>G) c.*819A>G (n.*819A>G) c.*3355A>G (n.*3355A>G) c.*774A>G (n.*774A>G) c.2436A>G (p.Ile812Met) c.270A>G (p.Ile90Met) c.683A>G n.2975A>G c.2802A>G (p.Ile934Met) c.2079A>G (p.Ile693Met) c.630A>G (p.Ile210Met) | dbSNP |
2 | g.165344824A>T | CA429972639 | SCN2A | c.2832A>T (p.Ile944=) c.*1151A>T (n.*1151A>T) c.*819A>T (n.*819A>T) c.*3355A>T (n.*3355A>T) c.*774A>T (n.*774A>T) c.2436A>T (p.Ile812=) c.270A>T (p.Ile90=) c.683A>T n.2975A>T c.2802A>T (p.Ile934=) c.2079A>T (p.Ile693=) c.630A>T (p.Ile210=) | |
2 | g.165344825G>A | CA1940025 | SCN2A | c.2833G>A (p.Glu945Lys) c.*1152G>A (n.*1152G>A) c.*820G>A (n.*820G>A) c.*3356G>A (n.*3356G>A) c.*775G>A (n.*775G>A) c.2437G>A (p.Glu813Lys) c.271G>A (p.Glu91Lys) c.684G>A n.2976G>A c.2803G>A (p.Glu935Lys) c.2080G>A (p.Glu694Lys) c.631G>A (p.Glu211Lys) | dbSNP ExAC gnomAD v2 |
2 | g.165344825G>C | CA349015946 | SCN2A | c.2833G>C (p.Glu945Gln) c.*1152G>C (n.*1152G>C) c.*820G>C (n.*820G>C) c.*3356G>C (n.*3356G>C) c.*775G>C (n.*775G>C) c.2437G>C (p.Glu813Gln) c.271G>C (p.Glu91Gln) c.684G>C n.2976G>C c.2803G>C (p.Glu935Gln) c.2080G>C (p.Glu694Gln) c.631G>C (p.Glu211Gln) | |
2 | g.165344825G= | CA1304545548 | SCN2A | c.2833G= (p.Glu945=) c.*1152G= (n.*1152G=) c.*820G= (n.*820G=) c.*3356G= (n.*3356G=) c.*775G= (n.*775G=) c.2437G= (p.Glu813=) c.271G= (p.Glu91=) c.684G= n.2976G= c.2803G= (p.Glu935=) c.2080G= (p.Glu694=) c.631G= (p.Glu211=) | |
2 | g.165344825G>T | CA349015950 | SCN2A | c.2833G>T (p.Glu945Ter) c.*1152G>T (n.*1152G>T) c.*820G>T (n.*820G>T) c.*3356G>T (n.*3356G>T) c.*775G>T (n.*775G>T) c.2437G>T (p.Glu813Ter) c.271G>T (p.Glu91Ter) c.684G>T n.2976G>T c.2803G>T (p.Glu935Ter) c.2080G>T (p.Glu694Ter) c.631G>T (p.Glu211Ter) | dbSNP COSMIC COSMIC |
2 | g.165344826A>C | CA349015954 | SCN2A | c.2834A>C (p.Glu945Ala) c.*1153A>C (n.*1153A>C) c.*821A>C (n.*821A>C) c.*3357A>C (n.*3357A>C) c.*776A>C (n.*776A>C) c.2438A>C (p.Glu813Ala) c.272A>C (p.Glu91Ala) c.685A>C n.2977A>C c.2804A>C (p.Glu935Ala) c.2081A>C (p.Glu694Ala) c.632A>C (p.Glu211Ala) | |
2 | g.165344826A>G | CA349015955 | SCN2A | c.2834A>G (p.Glu945Gly) c.*1153A>G (n.*1153A>G) c.*821A>G (n.*821A>G) c.*3357A>G (n.*3357A>G) c.*776A>G (n.*776A>G) c.2438A>G (p.Glu813Gly) c.272A>G (p.Glu91Gly) c.685A>G n.2977A>G c.2804A>G (p.Glu935Gly) c.2081A>G (p.Glu694Gly) c.632A>G (p.Glu211Gly) | |
2 | g.165344826A>T | CA349015960 | SCN2A | c.2834A>T (p.Glu945Val) c.*1153A>T (n.*1153A>T) c.*821A>T (n.*821A>T) c.*3357A>T (n.*3357A>T) c.*776A>T (n.*776A>T) c.2438A>T (p.Glu813Val) c.272A>T (p.Glu91Val) c.685A>T n.2977A>T c.2804A>T (p.Glu935Val) c.2081A>T (p.Glu694Val) c.632A>T (p.Glu211Val) | |
2 | g.165344827G>A | CA429972641 | SCN2A | c.2835G>A (p.Glu945=) c.*1154G>A (n.*1154G>A) c.*822G>A (n.*822G>A) c.*3358G>A (n.*3358G>A) c.*777G>A (n.*777G>A) c.2439G>A (p.Glu813=) c.273G>A (p.Glu91=) c.686G>A n.2978G>A c.2805G>A (p.Glu935=) c.2082G>A (p.Glu694=) c.633G>A (p.Glu211=) | |
2 | g.165344827G>C | CA349015964 | SCN2A | c.2835G>C (p.Glu945Asp) c.*1154G>C (n.*1154G>C) c.*822G>C (n.*822G>C) c.*3358G>C (n.*3358G>C) c.*777G>C (n.*777G>C) c.2439G>C (p.Glu813Asp) c.273G>C (p.Glu91Asp) c.686G>C n.2978G>C c.2805G>C (p.Glu935Asp) c.2082G>C (p.Glu694Asp) c.633G>C (p.Glu211Asp) | |
2 | g.165344827G>T | CA349015966 | SCN2A | c.2835G>T (p.Glu945Asp) c.*1154G>T (n.*1154G>T) c.*822G>T (n.*822G>T) c.*3358G>T (n.*3358G>T) c.*777G>T (n.*777G>T) c.2439G>T (p.Glu813Asp) c.273G>T (p.Glu91Asp) c.686G>T n.2978G>T c.2805G>T (p.Glu935Asp) c.2082G>T (p.Glu694Asp) c.633G>T (p.Glu211Asp) | |
2 | g.165344828A>C | CA349015970 | SCN2A | c.2836A>C (p.Thr946Pro) c.*1155A>C (n.*1155A>C) c.*823A>C (n.*823A>C) c.*3359A>C (n.*3359A>C) c.*778A>C (n.*778A>C) c.2440A>C (p.Thr814Pro) c.274A>C (p.Thr92Pro) c.687A>C n.2979A>C c.2806A>C (p.Thr936Pro) c.2083A>C (p.Thr695Pro) c.634A>C (p.Thr212Pro) | |
2 | g.165344828A>G | CA349015974 | SCN2A | c.2836A>G (p.Thr946Ala) c.*1155A>G (n.*1155A>G) c.*823A>G (n.*823A>G) c.*3359A>G (n.*3359A>G) c.*778A>G (n.*778A>G) c.2440A>G (p.Thr814Ala) c.274A>G (p.Thr92Ala) c.687A>G n.2979A>G c.2806A>G (p.Thr936Ala) c.2083A>G (p.Thr695Ala) c.634A>G (p.Thr212Ala) | |
2 | g.165344828A>T | CA349015978 | SCN2A | c.2836A>T (p.Thr946Ser) c.*1155A>T (n.*1155A>T) c.*823A>T (n.*823A>T) c.*3359A>T (n.*3359A>T) c.*778A>T (n.*778A>T) c.2440A>T (p.Thr814Ser) c.274A>T (p.Thr92Ser) c.687A>T n.2979A>T c.2806A>T (p.Thr936Ser) c.2083A>T (p.Thr695Ser) c.634A>T (p.Thr212Ser) | |
2 | g.165344829C>A | CA349015994 | SCN2A | c.2837C>A (p.Thr946Asn) c.*1156C>A (n.*1156C>A) c.*824C>A (n.*824C>A) c.*3360C>A (n.*3360C>A) c.*779C>A (n.*779C>A) c.2441C>A (p.Thr814Asn) c.275C>A (p.Thr92Asn) c.688C>A n.2980C>A c.2807C>A (p.Thr936Asn) c.2084C>A (p.Thr695Asn) c.635C>A (p.Thr212Asn) | ClinVar |
2 | g.165344829C>G | CA349015997 | SCN2A | c.2837C>G (p.Thr946Ser) c.*1156C>G (n.*1156C>G) c.*824C>G (n.*824C>G) c.*3360C>G (n.*3360C>G) c.*779C>G (n.*779C>G) c.2441C>G (p.Thr814Ser) c.275C>G (p.Thr92Ser) c.688C>G n.2980C>G c.2807C>G (p.Thr936Ser) c.2084C>G (p.Thr695Ser) c.635C>G (p.Thr212Ser) | |
2 | g.165344829C>T | CA349016000 | SCN2A | c.2837C>T (p.Thr946Ile) c.*1156C>T (n.*1156C>T) c.*824C>T (n.*824C>T) c.*3360C>T (n.*3360C>T) c.*779C>T (n.*779C>T) c.2441C>T (p.Thr814Ile) c.275C>T (p.Thr92Ile) c.688C>T n.2980C>T c.2807C>T (p.Thr936Ile) c.2084C>T (p.Thr695Ile) c.635C>T (p.Thr212Ile) | |
2 | g.165344830C>A | CA429972642 | SCN2A | c.2838C>A (p.Thr946=) c.*1157C>A (n.*1157C>A) c.*825C>A (n.*825C>A) c.*3361C>A (n.*3361C>A) c.*780C>A (n.*780C>A) c.2442C>A (p.Thr814=) c.276C>A (p.Thr92=) c.689C>A n.2981C>A c.2808C>A (p.Thr936=) c.2085C>A (p.Thr695=) c.636C>A (p.Thr212=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344830C= | CA1304545549 | SCN2A | c.2838C= (p.Thr946=) c.*1157C= (n.*1157C=) c.*825C= (n.*825C=) c.*3361C= (n.*3361C=) c.*780C= (n.*780C=) c.2442C= (p.Thr814=) c.276C= (p.Thr92=) c.689C= n.2981C= c.2808C= (p.Thr936=) c.2085C= (p.Thr695=) c.636C= (p.Thr212=) | |
2 | g.165344830C>G | CA429972643 | SCN2A | c.2838C>G (p.Thr946=) c.*1157C>G (n.*1157C>G) c.*825C>G (n.*825C>G) c.*3361C>G (n.*3361C>G) c.*780C>G (n.*780C>G) c.2442C>G (p.Thr814=) c.276C>G (p.Thr92=) c.689C>G n.2981C>G c.2808C>G (p.Thr936=) c.2085C>G (p.Thr695=) c.636C>G (p.Thr212=) | gnomAD v4 |
2 | g.165344830C>T | CA1940026 | SCN2A | c.2838C>T (p.Thr946=) c.*1157C>T (n.*1157C>T) c.*825C>T (n.*825C>T) c.*3361C>T (n.*3361C>T) c.*780C>T (n.*780C>T) c.2442C>T (p.Thr814=) c.276C>T (p.Thr92=) c.689C>T n.2981C>T c.2808C>T (p.Thr936=) c.2085C>T (p.Thr695=) c.636C>T (p.Thr212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344831A>C | CA349016011 | SCN2A | c.2839A>C (p.Met947Leu) c.*1158A>C (n.*1158A>C) c.*826A>C (n.*826A>C) c.*3362A>C (n.*3362A>C) c.*781A>C (n.*781A>C) c.2443A>C (p.Met815Leu) c.277A>C (p.Met93Leu) c.690A>C n.2982A>C c.2809A>C (p.Met937Leu) c.2086A>C (p.Met696Leu) c.637A>C (p.Met213Leu) | |
2 | g.165344831A>G | CA349016013 | SCN2A | c.2839A>G (p.Met947Val) c.*1158A>G (n.*1158A>G) c.*826A>G (n.*826A>G) c.*3362A>G (n.*3362A>G) c.*781A>G (n.*781A>G) c.2443A>G (p.Met815Val) c.277A>G (p.Met93Val) c.690A>G n.2982A>G c.2809A>G (p.Met937Val) c.2086A>G (p.Met696Val) c.637A>G (p.Met213Val) | |
2 | g.165344831A>T | CA349016008 | SCN2A | c.2839A>T (p.Met947Leu) c.*1158A>T (n.*1158A>T) c.*826A>T (n.*826A>T) c.*3362A>T (n.*3362A>T) c.*781A>T (n.*781A>T) c.2443A>T (p.Met815Leu) c.277A>T (p.Met93Leu) c.690A>T n.2982A>T c.2809A>T (p.Met937Leu) c.2086A>T (p.Met696Leu) c.637A>T (p.Met213Leu) | |
2 | g.165344832T>A | CA349016017 | SCN2A | c.2840T>A (p.Met947Lys) c.*1159T>A (n.*1159T>A) c.*827T>A (n.*827T>A) c.*3363T>A (n.*3363T>A) c.*782T>A (n.*782T>A) c.2444T>A (p.Met815Lys) c.278T>A (p.Met93Lys) c.691T>A n.2983T>A c.2810T>A (p.Met937Lys) c.2087T>A (p.Met696Lys) c.638T>A (p.Met213Lys) | |
2 | g.165344832T>C | CA349016038 | SCN2A | c.2840T>C (p.Met947Thr) c.*1159T>C (n.*1159T>C) c.*827T>C (n.*827T>C) c.*3363T>C (n.*3363T>C) c.*782T>C (n.*782T>C) c.2444T>C (p.Met815Thr) c.278T>C (p.Met93Thr) c.691T>C n.2983T>C c.2810T>C (p.Met937Thr) c.2087T>C (p.Met696Thr) c.638T>C (p.Met213Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344832T>G | CA349016041 | SCN2A | c.2840T>G (p.Met947Arg) c.*1159T>G (n.*1159T>G) c.*827T>G (n.*827T>G) c.*3363T>G (n.*3363T>G) c.*782T>G (n.*782T>G) c.2444T>G (p.Met815Arg) c.278T>G (p.Met93Arg) c.691T>G n.2983T>G c.2810T>G (p.Met937Arg) c.2087T>G (p.Met696Arg) c.638T>G (p.Met213Arg) | |
2 | g.165344832T= | CA1304545550 | SCN2A | c.2840T= (p.Met947=) c.*1159T= (n.*1159T=) c.*827T= (n.*827T=) c.*3363T= (n.*3363T=) c.*782T= (n.*782T=) c.2444T= (p.Met815=) c.278T= (p.Met93=) c.691T= n.2983T= c.2810T= (p.Met937=) c.2087T= (p.Met696=) c.638T= (p.Met213=) | |
2 | g.165344833G>A | CA349016045 | SCN2A | c.2841G>A (p.Met947Ile) c.*1160G>A (n.*1160G>A) c.*828G>A (n.*828G>A) c.*3364G>A (n.*3364G>A) c.*783G>A (n.*783G>A) c.2445G>A (p.Met815Ile) c.279G>A (p.Met93Ile) c.692G>A n.2984G>A c.2811G>A (p.Met937Ile) c.2088G>A (p.Met696Ile) c.639G>A (p.Met213Ile) | |
2 | g.165344833G>C | CA349016049 | SCN2A | c.2841G>C (p.Met947Ile) c.*1160G>C (n.*1160G>C) c.*828G>C (n.*828G>C) c.*3364G>C (n.*3364G>C) c.*783G>C (n.*783G>C) c.2445G>C (p.Met815Ile) c.279G>C (p.Met93Ile) c.692G>C n.2984G>C c.2811G>C (p.Met937Ile) c.2088G>C (p.Met696Ile) c.639G>C (p.Met213Ile) | |
2 | g.165344833G>T | CA349016059 | SCN2A | c.2841G>T (p.Met947Ile) c.*1160G>T (n.*1160G>T) c.*828G>T (n.*828G>T) c.*3364G>T (n.*3364G>T) c.*783G>T (n.*783G>T) c.2445G>T (p.Met815Ile) c.279G>T (p.Met93Ile) c.692G>T n.2984G>T c.2811G>T (p.Met937Ile) c.2088G>T (p.Met696Ile) c.639G>T (p.Met213Ile) | |
2 | g.165344834T>A | CA349016071 | SCN2A | c.2842T>A (p.Trp948Arg) c.*1161T>A (n.*1161T>A) c.*829T>A (n.*829T>A) c.*3365T>A (n.*3365T>A) c.*784T>A (n.*784T>A) c.2446T>A (p.Trp816Arg) c.280T>A (p.Trp94Arg) c.693T>A n.2985T>A c.2812T>A (p.Trp938Arg) c.2089T>A (p.Trp697Arg) c.640T>A (p.Trp214Arg) | |
2 | g.165344834T>C | CA349016063 | SCN2A | c.2842T>C (p.Trp948Arg) c.*1161T>C (n.*1161T>C) c.*829T>C (n.*829T>C) c.*3365T>C (n.*3365T>C) c.*784T>C (n.*784T>C) c.2446T>C (p.Trp816Arg) c.280T>C (p.Trp94Arg) c.693T>C n.2985T>C c.2812T>C (p.Trp938Arg) c.2089T>C (p.Trp697Arg) c.640T>C (p.Trp214Arg) | ClinVar dbSNP |
2 | g.165344834T>G | CA349016067 | SCN2A | c.2842T>G (p.Trp948Gly) c.*1161T>G (n.*1161T>G) c.*829T>G (n.*829T>G) c.*3365T>G (n.*3365T>G) c.*784T>G (n.*784T>G) c.2446T>G (p.Trp816Gly) c.280T>G (p.Trp94Gly) c.693T>G n.2985T>G c.2812T>G (p.Trp938Gly) c.2089T>G (p.Trp697Gly) c.640T>G (p.Trp214Gly) | |
2 | g.165344835G>A | CA349016073 | SCN2A | c.2843G>A (p.Trp948Ter) c.*1162G>A (n.*1162G>A) c.*830G>A (n.*830G>A) c.*3366G>A (n.*3366G>A) c.*785G>A (n.*785G>A) c.2447G>A (p.Trp816Ter) c.281G>A (p.Trp94Ter) c.694G>A n.2986G>A c.2813G>A (p.Trp938Ter) c.2090G>A (p.Trp697Ter) c.641G>A (p.Trp214Ter) | |
2 | g.165344835G>C | CA349016076 | SCN2A | c.2843G>C (p.Trp948Ser) c.*1162G>C (n.*1162G>C) c.*830G>C (n.*830G>C) c.*3366G>C (n.*3366G>C) c.*785G>C (n.*785G>C) c.2447G>C (p.Trp816Ser) c.281G>C (p.Trp94Ser) c.694G>C n.2986G>C c.2813G>C (p.Trp938Ser) c.2090G>C (p.Trp697Ser) c.641G>C (p.Trp214Ser) | |
2 | g.165344835G>T | CA349016085 | SCN2A | c.2843G>T (p.Trp948Leu) c.*1162G>T (n.*1162G>T) c.*830G>T (n.*830G>T) c.*3366G>T (n.*3366G>T) c.*785G>T (n.*785G>T) c.2447G>T (p.Trp816Leu) c.281G>T (p.Trp94Leu) c.694G>T n.2986G>T c.2813G>T (p.Trp938Leu) c.2090G>T (p.Trp697Leu) c.641G>T (p.Trp214Leu) | |
2 | g.165344836G>A | CA59720140 | SCN2A | c.2844G>A (p.Trp948Ter) c.*1163G>A (n.*1163G>A) c.*831G>A (n.*831G>A) c.*3367G>A (n.*3367G>A) c.*786G>A (n.*786G>A) c.2448G>A (p.Trp816Ter) c.282G>A (p.Trp94Ter) c.695G>A n.2987G>A c.2814G>A (p.Trp938Ter) c.2091G>A (p.Trp697Ter) c.642G>A (p.Trp214Ter) | ClinVar dbSNP |
2 | g.165344836G>C | CA349016094 | SCN2A | c.2844G>C (p.Trp948Cys) c.*1163G>C (n.*1163G>C) c.*831G>C (n.*831G>C) c.*3367G>C (n.*3367G>C) c.*786G>C (n.*786G>C) c.2448G>C (p.Trp816Cys) c.282G>C (p.Trp94Cys) c.695G>C n.2987G>C c.2814G>C (p.Trp938Cys) c.2091G>C (p.Trp697Cys) c.642G>C (p.Trp214Cys) | |
2 | g.165344836G= | CA1304545551 | SCN2A | c.2844G= (p.Trp948=) c.*1163G= (n.*1163G=) c.*831G= (n.*831G=) c.*3367G= (n.*3367G=) c.*786G= (n.*786G=) c.2448G= (p.Trp816=) c.282G= (p.Trp94=) c.695G= n.2987G= c.2814G= (p.Trp938=) c.2091G= (p.Trp697=) c.642G= (p.Trp214=) | |
2 | g.165344836G>T | CA349016097 | SCN2A | c.2844G>T (p.Trp948Cys) c.*1163G>T (n.*1163G>T) c.*831G>T (n.*831G>T) c.*3367G>T (n.*3367G>T) c.*786G>T (n.*786G>T) c.2448G>T (p.Trp816Cys) c.282G>T (p.Trp94Cys) c.695G>T n.2987G>T c.2814G>T (p.Trp938Cys) c.2091G>T (p.Trp697Cys) c.642G>T (p.Trp214Cys) | |
2 | g.165344837G>A | CA349016100 | SCN2A | c.2845G>A (p.Asp949Asn) c.*1164G>A (n.*1164G>A) c.*832G>A (n.*832G>A) c.*3368G>A (n.*3368G>A) c.*787G>A (n.*787G>A) c.2449G>A (p.Asp817Asn) c.283G>A (p.Asp95Asn) c.696G>A n.2988G>A c.2815G>A (p.Asp939Asn) c.2092G>A (p.Asp698Asn) c.643G>A (p.Asp215Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344837G>C | CA349016108 | SCN2A | c.2845G>C (p.Asp949His) c.*1164G>C (n.*1164G>C) c.*832G>C (n.*832G>C) c.*3368G>C (n.*3368G>C) c.*787G>C (n.*787G>C) c.2449G>C (p.Asp817His) c.283G>C (p.Asp95His) c.696G>C n.2988G>C c.2815G>C (p.Asp939His) c.2092G>C (p.Asp698His) c.643G>C (p.Asp215His) | |
2 | g.165344837G= | CA1304545552 | SCN2A | c.2845G= (p.Asp949=) c.*1164G= (n.*1164G=) c.*832G= (n.*832G=) c.*3368G= (n.*3368G=) c.*787G= (n.*787G=) c.2449G= (p.Asp817=) c.283G= (p.Asp95=) c.696G= n.2988G= c.2815G= (p.Asp939=) c.2092G= (p.Asp698=) c.643G= (p.Asp215=) | |
2 | g.165344837G>T | CA349016104 | SCN2A | c.2845G>T (p.Asp949Tyr) c.*1164G>T (n.*1164G>T) c.*832G>T (n.*832G>T) c.*3368G>T (n.*3368G>T) c.*787G>T (n.*787G>T) c.2449G>T (p.Asp817Tyr) c.283G>T (p.Asp95Tyr) c.696G>T n.2988G>T c.2815G>T (p.Asp939Tyr) c.2092G>T (p.Asp698Tyr) c.643G>T (p.Asp215Tyr) | |
2 | g.165344838A= | CA1304545553 | SCN2A | c.2846A= (p.Asp949=) c.*1165A= (n.*1165A=) c.*833A= (n.*833A=) c.*3369A= (n.*3369A=) c.*788A= (n.*788A=) c.2450A= (p.Asp817=) c.284A= (p.Asp95=) c.697A= n.2989A= c.2816A= (p.Asp939=) c.2093A= (p.Asp698=) c.644A= (p.Asp215=) | |
2 | g.165344838A>C | CA349016111 | SCN2A | c.2846A>C (p.Asp949Ala) c.*1165A>C (n.*1165A>C) c.*833A>C (n.*833A>C) c.*3369A>C (n.*3369A>C) c.*788A>C (n.*788A>C) c.2450A>C (p.Asp817Ala) c.284A>C (p.Asp95Ala) c.697A>C n.2989A>C c.2816A>C (p.Asp939Ala) c.2093A>C (p.Asp698Ala) c.644A>C (p.Asp215Ala) | |
2 | g.165344838A>G | CA349016114 | SCN2A | c.2846A>G (p.Asp949Gly) c.*1165A>G (n.*1165A>G) c.*833A>G (n.*833A>G) c.*3369A>G (n.*3369A>G) c.*788A>G (n.*788A>G) c.2450A>G (p.Asp817Gly) c.284A>G (p.Asp95Gly) c.697A>G n.2989A>G c.2816A>G (p.Asp939Gly) c.2093A>G (p.Asp698Gly) c.644A>G (p.Asp215Gly) | dbSNP |
2 | g.165344838A>T | CA349016118 | SCN2A | c.2846A>T (p.Asp949Val) c.*1165A>T (n.*1165A>T) c.*833A>T (n.*833A>T) c.*3369A>T (n.*3369A>T) c.*788A>T (n.*788A>T) c.2450A>T (p.Asp817Val) c.284A>T (p.Asp95Val) c.697A>T n.2989A>T c.2816A>T (p.Asp939Val) c.2093A>T (p.Asp698Val) c.644A>T (p.Asp215Val) | |
2 | g.165344839C>A | CA349016121 | SCN2A | c.2847C>A (p.Asp949Glu) c.*1166C>A (n.*1166C>A) c.*834C>A (n.*834C>A) c.*3370C>A (n.*3370C>A) c.*789C>A (n.*789C>A) c.2451C>A (p.Asp817Glu) c.285C>A (p.Asp95Glu) c.698C>A n.2990C>A c.2817C>A (p.Asp939Glu) c.2094C>A (p.Asp698Glu) c.645C>A (p.Asp215Glu) | |
2 | g.165344839C>G | CA349016125 | SCN2A | c.2847C>G (p.Asp949Glu) c.*1166C>G (n.*1166C>G) c.*834C>G (n.*834C>G) c.*3370C>G (n.*3370C>G) c.*789C>G (n.*789C>G) c.2451C>G (p.Asp817Glu) c.285C>G (p.Asp95Glu) c.698C>G n.2990C>G c.2817C>G (p.Asp939Glu) c.2094C>G (p.Asp698Glu) c.645C>G (p.Asp215Glu) | |
2 | g.165344839C>T | CA429972644 | SCN2A | c.2847C>T (p.Asp949=) c.*1166C>T (n.*1166C>T) c.*834C>T (n.*834C>T) c.*3370C>T (n.*3370C>T) c.*789C>T (n.*789C>T) c.2451C>T (p.Asp817=) c.285C>T (p.Asp95=) c.698C>T n.2990C>T c.2817C>T (p.Asp939=) c.2094C>T (p.Asp698=) c.645C>T (p.Asp215=) | |
2 | g.165344840T>A | CA349016130 | SCN2A | c.2848T>A (p.Cys950Ser) c.*1167T>A (n.*1167T>A) c.*835T>A (n.*835T>A) c.*3371T>A (n.*3371T>A) c.*790T>A (n.*790T>A) c.2452T>A (p.Cys818Ser) c.286T>A (p.Cys96Ser) c.699T>A n.2991T>A c.2818T>A (p.Cys940Ser) c.2095T>A (p.Cys699Ser) c.646T>A (p.Cys216Ser) | |
2 | g.165344840T>C | CA349016135 | SCN2A | c.2848T>C (p.Cys950Arg) c.*1167T>C (n.*1167T>C) c.*835T>C (n.*835T>C) c.*3371T>C (n.*3371T>C) c.*790T>C (n.*790T>C) c.2452T>C (p.Cys818Arg) c.286T>C (p.Cys96Arg) c.699T>C n.2991T>C c.2818T>C (p.Cys940Arg) c.2095T>C (p.Cys699Arg) c.646T>C (p.Cys216Arg) | |
2 | g.165344840T>G | CA349016136 | SCN2A | c.2848T>G (p.Cys950Gly) c.*1167T>G (n.*1167T>G) c.*835T>G (n.*835T>G) c.*3371T>G (n.*3371T>G) c.*790T>G (n.*790T>G) c.2452T>G (p.Cys818Gly) c.286T>G (p.Cys96Gly) c.699T>G n.2991T>G c.2818T>G (p.Cys940Gly) c.2095T>G (p.Cys699Gly) c.646T>G (p.Cys216Gly) | |
2 | g.165344841G>A | CA349016141 | SCN2A | c.2849G>A (p.Cys950Tyr) c.*1168G>A (n.*1168G>A) c.*836G>A (n.*836G>A) c.*3372G>A (n.*3372G>A) c.*791G>A (n.*791G>A) c.2453G>A (p.Cys818Tyr) c.287G>A (p.Cys96Tyr) c.700G>A n.2992G>A c.2819G>A (p.Cys940Tyr) c.2096G>A (p.Cys699Tyr) c.647G>A (p.Cys216Tyr) | |
2 | g.165344841G>C | CA349016144 | SCN2A | c.2849G>C (p.Cys950Ser) c.*1168G>C (n.*1168G>C) c.*836G>C (n.*836G>C) c.*3372G>C (n.*3372G>C) c.*791G>C (n.*791G>C) c.2453G>C (p.Cys818Ser) c.287G>C (p.Cys96Ser) c.700G>C n.2992G>C c.2819G>C (p.Cys940Ser) c.2096G>C (p.Cys699Ser) c.647G>C (p.Cys216Ser) | |
2 | g.165344841G>T | CA349016148 | SCN2A | c.2849G>T (p.Cys950Phe) c.*1168G>T (n.*1168G>T) c.*836G>T (n.*836G>T) c.*3372G>T (n.*3372G>T) c.*791G>T (n.*791G>T) c.2453G>T (p.Cys818Phe) c.287G>T (p.Cys96Phe) c.700G>T n.2992G>T c.2819G>T (p.Cys940Phe) c.2096G>T (p.Cys699Phe) c.647G>T (p.Cys216Phe) | |
2 | g.165344842T>A | CA349016151 | SCN2A | c.2850T>A (p.Cys950Ter) c.*1169T>A (n.*1169T>A) c.*837T>A (n.*837T>A) c.*3373T>A (n.*3373T>A) c.*792T>A (n.*792T>A) c.2454T>A (p.Cys818Ter) c.288T>A (p.Cys96Ter) c.701T>A n.2993T>A c.2820T>A (p.Cys940Ter) c.2097T>A (p.Cys699Ter) c.648T>A (p.Cys216Ter) | |
2 | g.165344842T>C | CA429972645 | SCN2A | c.2850T>C (p.Cys950=) c.*1169T>C (n.*1169T>C) c.*837T>C (n.*837T>C) c.*3373T>C (n.*3373T>C) c.*792T>C (n.*792T>C) c.2454T>C (p.Cys818=) c.288T>C (p.Cys96=) c.701T>C n.2993T>C c.2820T>C (p.Cys940=) c.2097T>C (p.Cys699=) c.648T>C (p.Cys216=) | |
2 | g.165344842T>G | CA349016152 | SCN2A | c.2850T>G (p.Cys950Trp) c.*1169T>G (n.*1169T>G) c.*837T>G (n.*837T>G) c.*3373T>G (n.*3373T>G) c.*792T>G (n.*792T>G) c.2454T>G (p.Cys818Trp) c.288T>G (p.Cys96Trp) c.701T>G n.2993T>G c.2820T>G (p.Cys940Trp) c.2097T>G (p.Cys699Trp) c.648T>G (p.Cys216Trp) | |
2 | g.165344843A>C | CA349016154 | SCN2A | c.2851A>C (p.Met951Leu) c.*1170A>C (n.*1170A>C) c.*838A>C (n.*838A>C) c.*3374A>C (n.*3374A>C) c.*793A>C (n.*793A>C) c.2455A>C (p.Met819Leu) c.289A>C (p.Met97Leu) c.702A>C n.2994A>C c.2821A>C (p.Met941Leu) c.2098A>C (p.Met700Leu) c.649A>C (p.Met217Leu) | |
2 | g.165344843A>G | CA349016155 | SCN2A | c.2851A>G (p.Met951Val) c.*1170A>G (n.*1170A>G) c.*838A>G (n.*838A>G) c.*3374A>G (n.*3374A>G) c.*793A>G (n.*793A>G) c.2455A>G (p.Met819Val) c.289A>G (p.Met97Val) c.702A>G n.2994A>G c.2821A>G (p.Met941Val) c.2098A>G (p.Met700Val) c.649A>G (p.Met217Val) | |
2 | g.165344843A>T | CA349016153 | SCN2A | c.2851A>T (p.Met951Leu) c.*1170A>T (n.*1170A>T) c.*838A>T (n.*838A>T) c.*3374A>T (n.*3374A>T) c.*793A>T (n.*793A>T) c.2455A>T (p.Met819Leu) c.289A>T (p.Met97Leu) c.702A>T n.2994A>T c.2821A>T (p.Met941Leu) c.2098A>T (p.Met700Leu) c.649A>T (p.Met217Leu) | |
2 | g.165344844T>A | CA349016157 | SCN2A | c.2852T>A (p.Met951Lys) c.*1171T>A (n.*1171T>A) c.*839T>A (n.*839T>A) c.*3375T>A (n.*3375T>A) c.*794T>A (n.*794T>A) c.2456T>A (p.Met819Lys) c.290T>A (p.Met97Lys) c.703T>A n.2995T>A c.2822T>A (p.Met941Lys) c.2099T>A (p.Met700Lys) c.650T>A (p.Met217Lys) | |
2 | g.165344844T>C | CA349016156 | SCN2A | c.2852T>C (p.Met951Thr) c.*1171T>C (n.*1171T>C) c.*839T>C (n.*839T>C) c.*3375T>C (n.*3375T>C) c.*794T>C (n.*794T>C) c.2456T>C (p.Met819Thr) c.290T>C (p.Met97Thr) c.703T>C n.2995T>C c.2822T>C (p.Met941Thr) c.2099T>C (p.Met700Thr) c.650T>C (p.Met217Thr) | dbSNP gnomAD v2 |
2 | g.165344844T>G | CA349016159 | SCN2A | c.2852T>G (p.Met951Arg) c.*1171T>G (n.*1171T>G) c.*839T>G (n.*839T>G) c.*3375T>G (n.*3375T>G) c.*794T>G (n.*794T>G) c.2456T>G (p.Met819Arg) c.290T>G (p.Met97Arg) c.703T>G n.2995T>G c.2822T>G (p.Met941Arg) c.2099T>G (p.Met700Arg) c.650T>G (p.Met217Arg) | ClinVar dbSNP |
2 | g.165344844T= | CA1304545554 | SCN2A | c.2852T= (p.Met951=) c.*1171T= (n.*1171T=) c.*839T= (n.*839T=) c.*3375T= (n.*3375T=) c.*794T= (n.*794T=) c.2456T= (p.Met819=) c.290T= (p.Met97=) c.703T= n.2995T= c.2822T= (p.Met941=) c.2099T= (p.Met700=) c.650T= (p.Met217=) | |
2 | g.165344845G>A | CA349016160 | SCN2A | c.2853G>A (p.Met951Ile) c.*1172G>A (n.*1172G>A) c.*840G>A (n.*840G>A) c.*3376G>A (n.*3376G>A) c.*795G>A (n.*795G>A) c.2457G>A (p.Met819Ile) c.291G>A (p.Met97Ile) c.704G>A n.2996G>A c.2823G>A (p.Met941Ile) c.2100G>A (p.Met700Ile) c.651G>A (p.Met217Ile) | gnomAD v4 |
2 | g.165344845G>C | CA349016163 | SCN2A | c.2853G>C (p.Met951Ile) c.*1172G>C (n.*1172G>C) c.*840G>C (n.*840G>C) c.*3376G>C (n.*3376G>C) c.*795G>C (n.*795G>C) c.2457G>C (p.Met819Ile) c.291G>C (p.Met97Ile) c.704G>C n.2996G>C c.2823G>C (p.Met941Ile) c.2100G>C (p.Met700Ile) c.651G>C (p.Met217Ile) | |
2 | g.165344845G>T | CA349016161 | SCN2A | c.2853G>T (p.Met951Ile) c.*1172G>T (n.*1172G>T) c.*840G>T (n.*840G>T) c.*3376G>T (n.*3376G>T) c.*795G>T (n.*795G>T) c.2457G>T (p.Met819Ile) c.291G>T (p.Met97Ile) c.704G>T n.2996G>T c.2823G>T (p.Met941Ile) c.2100G>T (p.Met700Ile) c.651G>T (p.Met217Ile) | |
2 | g.165344846G>A | CA349016166 | SCN2A | c.2854G>A (p.Glu952Lys) c.*1173G>A (n.*1173G>A) c.*841G>A (n.*841G>A) c.*3377G>A (n.*3377G>A) c.*796G>A (n.*796G>A) c.2458G>A (p.Glu820Lys) c.292G>A (p.Glu98Lys) c.705G>A n.2997G>A c.2824G>A (p.Glu942Lys) c.2101G>A (p.Glu701Lys) c.652G>A (p.Glu218Lys) | COSMIC COSMIC |
2 | g.165344846G>C | CA349016172 | SCN2A | c.2854G>C (p.Glu952Gln) c.*1173G>C (n.*1173G>C) c.*841G>C (n.*841G>C) c.*3377G>C (n.*3377G>C) c.*796G>C (n.*796G>C) c.2458G>C (p.Glu820Gln) c.292G>C (p.Glu98Gln) c.705G>C n.2997G>C c.2824G>C (p.Glu942Gln) c.2101G>C (p.Glu701Gln) c.652G>C (p.Glu218Gln) | |
2 | g.165344846G= | CA1304545555 | SCN2A | c.2854G= (p.Glu952=) c.*1173G= (n.*1173G=) c.*841G= (n.*841G=) c.*3377G= (n.*3377G=) c.*796G= (n.*796G=) c.2458G= (p.Glu820=) c.292G= (p.Glu98=) c.705G= n.2997G= c.2824G= (p.Glu942=) c.2101G= (p.Glu701=) c.652G= (p.Glu218=) | |
2 | g.165344846G>T | CA349016169 | SCN2A | c.2854G>T (p.Glu952Ter) c.*1173G>T (n.*1173G>T) c.*841G>T (n.*841G>T) c.*3377G>T (n.*3377G>T) c.*796G>T (n.*796G>T) c.2458G>T (p.Glu820Ter) c.292G>T (p.Glu98Ter) c.705G>T n.2997G>T c.2824G>T (p.Glu942Ter) c.2101G>T (p.Glu701Ter) c.652G>T (p.Glu218Ter) | ClinVar dbSNP |
2 | g.165344847A= | CA1304545556 | SCN2A | c.2855A= (p.Glu952=) c.*1174A= (n.*1174A=) c.*842A= (n.*842A=) c.*3378A= (n.*3378A=) c.*797A= (n.*797A=) c.2459A= (p.Glu820=) c.293A= (p.Glu98=) c.706A= n.2998A= c.2825A= (p.Glu942=) c.2102A= (p.Glu701=) c.653A= (p.Glu218=) | |
2 | g.165344847A>C | CA349016174 | SCN2A | c.2855A>C (p.Glu952Ala) c.*1174A>C (n.*1174A>C) c.*842A>C (n.*842A>C) c.*3378A>C (n.*3378A>C) c.*797A>C (n.*797A>C) c.2459A>C (p.Glu820Ala) c.293A>C (p.Glu98Ala) c.706A>C n.2998A>C c.2825A>C (p.Glu942Ala) c.2102A>C (p.Glu701Ala) c.653A>C (p.Glu218Ala) | |
2 | g.165344847A>G | CA349016183 | SCN2A | c.2855A>G (p.Glu952Gly) c.*1174A>G (n.*1174A>G) c.*842A>G (n.*842A>G) c.*3378A>G (n.*3378A>G) c.*797A>G (n.*797A>G) c.2459A>G (p.Glu820Gly) c.293A>G (p.Glu98Gly) c.706A>G n.2998A>G c.2825A>G (p.Glu942Gly) c.2102A>G (p.Glu701Gly) c.653A>G (p.Glu218Gly) | dbSNP |
2 | g.165344847A>T | CA349016177 | SCN2A | c.2855A>T (p.Glu952Val) c.*1174A>T (n.*1174A>T) c.*842A>T (n.*842A>T) c.*3378A>T (n.*3378A>T) c.*797A>T (n.*797A>T) c.2459A>T (p.Glu820Val) c.293A>T (p.Glu98Val) c.706A>T n.2998A>T c.2825A>T (p.Glu942Val) c.2102A>T (p.Glu701Val) c.653A>T (p.Glu218Val) | |
2 | g.165344848G>A | CA429972646 | SCN2A | c.2856G>A (p.Glu952=) c.*1175G>A (n.*1175G>A) c.*843G>A (n.*843G>A) c.*3379G>A (n.*3379G>A) c.*798G>A (n.*798G>A) c.2460G>A (p.Glu820=) c.294G>A (p.Glu98=) c.707G>A n.2999G>A c.2826G>A (p.Glu942=) c.2103G>A (p.Glu701=) c.654G>A (p.Glu218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.165344848G>C | CA349016185 | SCN2A | c.2856G>C (p.Glu952Asp) c.*1175G>C (n.*1175G>C) c.*843G>C (n.*843G>C) c.*3379G>C (n.*3379G>C) c.*798G>C (n.*798G>C) c.2460G>C (p.Glu820Asp) c.294G>C (p.Glu98Asp) c.707G>C n.2999G>C c.2826G>C (p.Glu942Asp) c.2103G>C (p.Glu701Asp) c.654G>C (p.Glu218Asp) | |
2 | g.165344848G= | CA1304545557 | SCN2A | c.2856G= (p.Glu952=) c.*1175G= (n.*1175G=) c.*843G= (n.*843G=) c.*3379G= (n.*3379G=) c.*798G= (n.*798G=) c.2460G= (p.Glu820=) c.294G= (p.Glu98=) c.707G= n.2999G= c.2826G= (p.Glu942=) c.2103G= (p.Glu701=) c.654G= (p.Glu218=) | |
2 | g.165344848G>T | CA349016187 | SCN2A | c.2856G>T (p.Glu952Asp) c.*1175G>T (n.*1175G>T) c.*843G>T (n.*843G>T) c.*3379G>T (n.*3379G>T) c.*798G>T (n.*798G>T) c.2460G>T (p.Glu820Asp) c.294G>T (p.Glu98Asp) c.707G>T n.2999G>T c.2826G>T (p.Glu942Asp) c.2103G>T (p.Glu701Asp) c.654G>T (p.Glu218Asp) | |
2 | g.165344849G>A | CA349016191 | SCN2A | c.2857G>A (p.Val953Ile) c.*1176G>A (n.*1176G>A) c.*844G>A (n.*844G>A) c.*3380G>A (n.*3380G>A) c.*799G>A (n.*799G>A) c.2461G>A (p.Val821Ile) c.295G>A (p.Val99Ile) c.708G>A n.3000G>A c.2827G>A (p.Val943Ile) c.2104G>A (p.Val702Ile) c.655G>A (p.Val219Ile) | |
2 | g.165344849G>C | CA349016193 | SCN2A | c.2857G>C (p.Val953Leu) c.*1176G>C (n.*1176G>C) c.*844G>C (n.*844G>C) c.*3380G>C (n.*3380G>C) c.*799G>C (n.*799G>C) c.2461G>C (p.Val821Leu) c.295G>C (p.Val99Leu) c.708G>C n.3000G>C c.2827G>C (p.Val943Leu) c.2104G>C (p.Val702Leu) c.655G>C (p.Val219Leu) | |
2 | g.165344849G>T | CA349016196 | SCN2A | c.2857G>T (p.Val953Phe) c.*1176G>T (n.*1176G>T) c.*844G>T (n.*844G>T) c.*3380G>T (n.*3380G>T) c.*799G>T (n.*799G>T) c.2461G>T (p.Val821Phe) c.295G>T (p.Val99Phe) c.708G>T n.3000G>T c.2827G>T (p.Val943Phe) c.2104G>T (p.Val702Phe) c.655G>T (p.Val219Phe) | |
2 | g.165344850T>A | CA349016199 | SCN2A | c.2858T>A (p.Val953Asp) c.*1177T>A (n.*1177T>A) c.*845T>A (n.*845T>A) c.*3381T>A (n.*3381T>A) c.*800T>A (n.*800T>A) c.2462T>A (p.Val821Asp) c.296T>A (p.Val99Asp) c.709T>A n.3001T>A c.2828T>A (p.Val943Asp) c.2105T>A (p.Val702Asp) c.656T>A (p.Val219Asp) | |
2 | g.165344850T>C | CA349016204 | SCN2A | c.2858T>C (p.Val953Ala) c.*1177T>C (n.*1177T>C) c.*845T>C (n.*845T>C) c.*3381T>C (n.*3381T>C) c.*800T>C (n.*800T>C) c.2462T>C (p.Val821Ala) c.296T>C (p.Val99Ala) c.709T>C n.3001T>C c.2828T>C (p.Val943Ala) c.2105T>C (p.Val702Ala) c.656T>C (p.Val219Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.165344850T>G | CA349016205 | SCN2A | c.2858T>G (p.Val953Gly) c.*1177T>G (n.*1177T>G) c.*845T>G (n.*845T>G) c.*3381T>G (n.*3381T>G) c.*800T>G (n.*800T>G) c.2462T>G (p.Val821Gly) c.296T>G (p.Val99Gly) c.709T>G n.3001T>G c.2828T>G (p.Val943Gly) c.2105T>G (p.Val702Gly) c.656T>G (p.Val219Gly) | dbSNP |
2 | g.165344850T= | CA1304545558 | SCN2A | c.2858T= (p.Val953=) c.*1177T= (n.*1177T=) c.*845T= (n.*845T=) c.*3381T= (n.*3381T=) c.*800T= (n.*800T=) c.2462T= (p.Val821=) c.296T= (p.Val99=) c.709T= n.3001T= c.2828T= (p.Val943=) c.2105T= (p.Val702=) c.656T= (p.Val219=) | |
2 | g.165344851C>A | CA429972647 | SCN2A | c.2859C>A (p.Val953=) c.*1178C>A (n.*1178C>A) c.*846C>A (n.*846C>A) c.*3382C>A (n.*3382C>A) c.*801C>A (n.*801C>A) c.2463C>A (p.Val821=) c.297C>A (p.Val99=) c.710C>A n.3002C>A c.2829C>A (p.Val943=) c.2106C>A (p.Val702=) c.657C>A (p.Val219=) | |
2 | g.165344851C= | CA1304545559 | SCN2A | c.2859C= (p.Val953=) c.*1178C= (n.*1178C=) c.*846C= (n.*846C=) c.*3382C= (n.*3382C=) c.*801C= (n.*801C=) c.2463C= (p.Val821=) c.297C= (p.Val99=) c.710C= n.3002C= c.2829C= (p.Val943=) c.2106C= (p.Val702=) c.657C= (p.Val219=) | |
2 | g.165344851C>G | CA429972648 | SCN2A | c.2859C>G (p.Val953=) c.*1178C>G (n.*1178C>G) c.*846C>G (n.*846C>G) c.*3382C>G (n.*3382C>G) c.*801C>G (n.*801C>G) c.2463C>G (p.Val821=) c.297C>G (p.Val99=) c.710C>G n.3002C>G c.2829C>G (p.Val943=) c.2106C>G (p.Val702=) c.657C>G (p.Val219=) | |
2 | g.165344851C>T | CA293235 | SCN2A | c.2859C>T (p.Val953=) c.*1178C>T (n.*1178C>T) c.*846C>T (n.*846C>T) c.*3382C>T (n.*3382C>T) c.*801C>T (n.*801C>T) c.2463C>T (p.Val821=) c.297C>T (p.Val99=) c.710C>T n.3002C>T c.2829C>T (p.Val943=) c.2106C>T (p.Val702=) c.657C>T (p.Val219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344852G>A | CA1940027 | SCN2A | c.2860G>A (p.Ala954Thr) c.*1179G>A (n.*1179G>A) c.*847G>A (n.*847G>A) c.*3383G>A (n.*3383G>A) c.*802G>A (n.*802G>A) c.2464G>A (p.Ala822Thr) c.298G>A (p.Ala100Thr) c.711G>A n.3003G>A c.2830G>A (p.Ala944Thr) c.2107G>A (p.Ala703Thr) c.658G>A (p.Ala220Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.165344852G>C | CA349016214 | SCN2A | c.2860G>C (p.Ala954Pro) c.*1179G>C (n.*1179G>C) c.*847G>C (n.*847G>C) c.*3383G>C (n.*3383G>C) c.*802G>C (n.*802G>C) c.2464G>C (p.Ala822Pro) c.298G>C (p.Ala100Pro) c.711G>C n.3003G>C c.2830G>C (p.Ala944Pro) c.2107G>C (p.Ala703Pro) c.658G>C (p.Ala220Pro) | |
2 | g.165344852G= | CA1304545560 | SCN2A | c.2860G= (p.Ala954=) c.*1179G= (n.*1179G=) c.*847G= (n.*847G=) c.*3383G= (n.*3383G=) c.*802G= (n.*802G=) c.2464G= (p.Ala822=) c.298G= (p.Ala100=) c.711G= n.3003G= c.2830G= (p.Ala944=) c.2107G= (p.Ala703=) c.658G= (p.Ala220=) | |
2 | g.165344852G>T | CA1940028 | SCN2A | c.2860G>T (p.Ala954Ser) c.*1179G>T (n.*1179G>T) c.*847G>T (n.*847G>T) c.*3383G>T (n.*3383G>T) c.*802G>T (n.*802G>T) c.2464G>T (p.Ala822Ser) c.298G>T (p.Ala100Ser) c.711G>T n.3003G>T c.2830G>T (p.Ala944Ser) c.2107G>T (p.Ala703Ser) c.658G>T (p.Ala220Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.165344853C>A | CA349016226 | SCN2A | c.2861C>A (p.Ala954Asp) c.*1180C>A (n.*1180C>A) c.*848C>A (n.*848C>A) c.*3384C>A (n.*3384C>A) c.*803C>A (n.*803C>A) c.2465C>A (p.Ala822Asp) c.299C>A (p.Ala100Asp) c.712C>A n.3004C>A c.2831C>A (p.Ala944Asp) c.2108C>A (p.Ala703Asp) c.659C>A (p.Ala220Asp) | |
2 | g.165344853C>G | CA349016233 | SCN2A | c.2861C>G (p.Ala954Gly) c.*1180C>G (n.*1180C>G) c.*848C>G (n.*848C>G) c.*3384C>G (n.*3384C>G) c.*803C>G (n.*803C>G) c.2465C>G (p.Ala822Gly) c.299C>G (p.Ala100Gly) c.712C>G n.3004C>G c.2831C>G (p.Ala944Gly) c.2108C>G (p.Ala703Gly) c.659C>G (p.Ala220Gly) | |
2 | g.165344853C>T | CA349016229 | SCN2A | c.2861C>T (p.Ala954Val) c.*1180C>T (n.*1180C>T) c.*848C>T (n.*848C>T) c.*3384C>T (n.*3384C>T) c.*803C>T (n.*803C>T) c.2465C>T (p.Ala822Val) c.299C>T (p.Ala100Val) c.712C>T n.3004C>T c.2831C>T (p.Ala944Val) c.2108C>T (p.Ala703Val) c.659C>T (p.Ala220Val) | |
2 | g.165344854T>A | CA429972649 | SCN2A | c.2862T>A (p.Ala954=) c.*1181T>A (n.*1181T>A) c.*849T>A (n.*849T>A) c.*3385T>A (n.*3385T>A) c.*804T>A (n.*804T>A) c.2466T>A (p.Ala822=) c.300T>A (p.Ala100=) c.713T>A n.3005T>A c.2832T>A (p.Ala944=) c.2109T>A (p.Ala703=) c.660T>A (p.Ala220=) | |
2 | g.165344854T>C | CA429972650 | SCN2A | c.2862T>C (p.Ala954=) c.*1181T>C (n.*1181T>C) c.*849T>C (n.*849T>C) c.*3385T>C (n.*3385T>C) c.*804T>C (n.*804T>C) c.2466T>C (p.Ala822=) c.300T>C (p.Ala100=) c.713T>C n.3005T>C c.2832T>C (p.Ala944=) c.2109T>C (p.Ala703=) c.660T>C (p.Ala220=) | |
2 | g.165344854T>G | CA429972651 | SCN2A | c.2862T>G (p.Ala954=) c.*1181T>G (n.*1181T>G) c.*849T>G (n.*849T>G) c.*3385T>G (n.*3385T>G) c.*804T>G (n.*804T>G) c.2466T>G (p.Ala822=) c.300T>G (p.Ala100=) c.713T>G n.3005T>G c.2832T>G (p.Ala944=) c.2109T>G (p.Ala703=) c.660T>G (p.Ala220=) | |
2 | g.165344855G>A | CA349016235 | SCN2A | c.2863G>A (p.Gly955Ser) c.*1182G>A (n.*1182G>A) c.*850G>A (n.*850G>A) c.*3386G>A (n.*3386G>A) c.*805G>A (n.*805G>A) c.2467G>A (p.Gly823Ser) c.301G>A (p.Gly101Ser) c.714G>A n.3006G>A c.2833G>A (p.Gly945Ser) c.2110G>A (p.Gly704Ser) c.661G>A (p.Gly221Ser) | |
2 | g.165344855G>C | CA349016238 | SCN2A | c.2863G>C (p.Gly955Arg) c.*1182G>C (n.*1182G>C) c.*850G>C (n.*850G>C) c.*3386G>C (n.*3386G>C) c.*805G>C (n.*805G>C) c.2467G>C (p.Gly823Arg) c.301G>C (p.Gly101Arg) c.714G>C n.3006G>C c.2833G>C (p.Gly945Arg) c.2110G>C (p.Gly704Arg) c.661G>C (p.Gly221Arg) | |
2 | g.165344855G>T | CA349016240 | SCN2A | c.2863G>T (p.Gly955Cys) c.*1182G>T (n.*1182G>T) c.*850G>T (n.*850G>T) c.*3386G>T (n.*3386G>T) c.*805G>T (n.*805G>T) c.2467G>T (p.Gly823Cys) c.301G>T (p.Gly101Cys) c.714G>T n.3006G>T c.2833G>T (p.Gly945Cys) c.2110G>T (p.Gly704Cys) c.661G>T (p.Gly221Cys) | |
2 | g.165344856G>A | CA349016244 | SCN2A | c.2864G>A (p.Gly955Asp) c.*1183G>A (n.*1183G>A) c.*851G>A (n.*851G>A) c.*3387G>A (n.*3387G>A) c.*806G>A (n.*806G>A) c.2468G>A (p.Gly823Asp) c.302G>A (p.Gly101Asp) c.715G>A n.3007G>A c.2834G>A (p.Gly945Asp) c.2111G>A (p.Gly704Asp) c.662G>A (p.Gly221Asp) | ClinVar gnomAD v4 |
2 | g.165344856G>C | CA349016247 | SCN2A | c.2864G>C (p.Gly955Ala) c.*1183G>C (n.*1183G>C) c.*851G>C (n.*851G>C) c.*3387G>C (n.*3387G>C) c.*806G>C (n.*806G>C) c.2468G>C (p.Gly823Ala) c.302G>C (p.Gly101Ala) c.715G>C n.3007G>C c.2834G>C (p.Gly945Ala) c.2111G>C (p.Gly704Ala) c.662G>C (p.Gly221Ala) | dbSNP |
2 | g.165344856G>T | CA349016251 | SCN2A | c.2864G>T (p.Gly955Val) c.*1183G>T (n.*1183G>T) c.*851G>T (n.*851G>T) c.*3387G>T (n.*3387G>T) c.*806G>T (n.*806G>T) c.2468G>T (p.Gly823Val) c.302G>T (p.Gly101Val) c.715G>T n.3007G>T c.2834G>T (p.Gly945Val) c.2111G>T (p.Gly704Val) c.662G>T (p.Gly221Val) | |
2 | g.165344857C>A | CA429972652 | SCN2A | c.2865C>A (p.Gly955=) c.*1184C>A (n.*1184C>A) c.*852C>A (n.*852C>A) c.*3388C>A (n.*3388C>A) c.*807C>A (n.*807C>A) c.2469C>A (p.Gly823=) c.303C>A (p.Gly101=) c.716C>A n.3008C>A c.2835C>A (p.Gly945=) c.2112C>A (p.Gly704=) c.663C>A (p.Gly221=) | |
2 | g.165344857C= | CA1304545561 | SCN2A | c.2865C= (p.Gly955=) c.*1184C= (n.*1184C=) c.*852C= (n.*852C=) c.*3388C= (n.*3388C=) c.*807C= (n.*807C=) c.2469C= (p.Gly823=) c.303C= (p.Gly101=) c.716C= n.3008C= c.2835C= (p.Gly945=) c.2112C= (p.Gly704=) c.663C= (p.Gly221=) | |
2 | g.165344857C>G | CA429972653 | SCN2A | c.2865C>G (p.Gly955=) c.*1184C>G (n.*1184C>G) c.*852C>G (n.*852C>G) c.*3388C>G (n.*3388C>G) c.*807C>G (n.*807C>G) c.2469C>G (p.Gly823=) c.303C>G (p.Gly101=) c.716C>G n.3008C>G c.2835C>G (p.Gly945=) c.2112C>G (p.Gly704=) c.663C>G (p.Gly221=) | |
2 | g.165344857C>T | CA429972654 | SCN2A | c.2865C>T (p.Gly955=) c.*1184C>T (n.*1184C>T) c.*852C>T (n.*852C>T) c.*3388C>T (n.*3388C>T) c.*807C>T (n.*807C>T) c.2469C>T (p.Gly823=) c.303C>T (p.Gly101=) c.716C>T n.3008C>T c.2835C>T (p.Gly945=) c.2112C>T (p.Gly704=) c.663C>T (p.Gly221=) | dbSNP |
2 | g.165344858C>A | CA349016253 | SCN2A | c.2866C>A (p.Gln956Lys) c.*1185C>A (n.*1185C>A) c.*853C>A (n.*853C>A) c.*3389C>A (n.*3389C>A) c.*808C>A (n.*808C>A) c.2470C>A (p.Gln824Lys) c.304C>A (p.Gln102Lys) c.717C>A n.3009C>A c.2836C>A (p.Gln946Lys) c.2113C>A (p.Gln705Lys) c.664C>A (p.Gln222Lys) | |
2 | g.165344858C= | CA1304545562 | SCN2A | c.2866C= (p.Gln956=) c.*1185C= (n.*1185C=) c.*853C= (n.*853C=) c.*3389C= (n.*3389C=) c.*808C= (n.*808C=) c.2470C= (p.Gln824=) c.304C= (p.Gln102=) c.717C= n.3009C= c.2836C= (p.Gln946=) c.2113C= (p.Gln705=) c.664C= (p.Gln222=) | |
2 | g.165344858C>G | CA349016258 | SCN2A | c.2866C>G (p.Gln956Glu) c.*1185C>G (n.*1185C>G) c.*853C>G (n.*853C>G) c.*3389C>G (n.*3389C>G) c.*808C>G (n.*808C>G) c.2470C>G (p.Gln824Glu) c.304C>G (p.Gln102Glu) c.717C>G n.3009C>G c.2836C>G (p.Gln946Glu) c.2113C>G (p.Gln705Glu) c.664C>G (p.Gln222Glu) | |
2 | g.165344858C>T | CA349016261 | SCN2A | c.2866C>T (p.Gln956Ter) c.*1185C>T (n.*1185C>T) c.*853C>T (n.*853C>T) c.*3389C>T (n.*3389C>T) c.*808C>T (n.*808C>T) c.2470C>T (p.Gln824Ter) c.304C>T (p.Gln102Ter) c.717C>T n.3009C>T c.2836C>T (p.Gln946Ter) c.2113C>T (p.Gln705Ter) c.664C>T (p.Gln222Ter) | dbSNP |
2 | g.165344859A>C | CA349016271 | SCN2A | c.2867A>C (p.Gln956Pro) c.*1186A>C (n.*1186A>C) c.*854A>C (n.*854A>C) c.*3390A>C (n.*3390A>C) c.*809A>C (n.*809A>C) c.2471A>C (p.Gln824Pro) c.305A>C (p.Gln102Pro) c.718A>C n.3010A>C c.2837A>C (p.Gln946Pro) c.2114A>C (p.Gln705Pro) c.665A>C (p.Gln222Pro) | |
2 | g.165344859A>G | CA349016267 | SCN2A | c.2867A>G (p.Gln956Arg) c.*1186A>G (n.*1186A>G) c.*854A>G (n.*854A>G) c.*3390A>G (n.*3390A>G) c.*809A>G (n.*809A>G) c.2471A>G (p.Gln824Arg) c.305A>G (p.Gln102Arg) c.718A>G n.3010A>G c.2837A>G (p.Gln946Arg) c.2114A>G (p.Gln705Arg) c.665A>G (p.Gln222Arg) | |
2 | g.165344859A>T | CA349016264 | SCN2A | c.2867A>T (p.Gln956Leu) c.*1186A>T (n.*1186A>T) c.*854A>T (n.*854A>T) c.*3390A>T (n.*3390A>T) c.*809A>T (n.*809A>T) c.2471A>T (p.Gln824Leu) c.305A>T (p.Gln102Leu) c.718A>T n.3010A>T c.2837A>T (p.Gln946Leu) c.2114A>T (p.Gln705Leu) c.665A>T (p.Gln222Leu) | |
2 | g.165344860A>C | CA349016274 | SCN2A | c.2868A>C (p.Gln956His) c.*1187A>C (n.*1187A>C) c.*855A>C (n.*855A>C) c.*3391A>C (n.*3391A>C) c.*810A>C (n.*810A>C) c.2472A>C (p.Gln824His) c.306A>C (p.Gln102His) c.719A>C n.3011A>C c.2838A>C (p.Gln946His) c.2115A>C (p.Gln705His) c.666A>C (p.Gln222His) | |
2 | g.165344860A>G | CA429972655 | SCN2A | c.2868A>G (p.Gln956=) c.*1187A>G (n.*1187A>G) c.*855A>G (n.*855A>G) c.*3391A>G (n.*3391A>G) c.*810A>G (n.*810A>G) c.2472A>G (p.Gln824=) c.306A>G (p.Gln102=) c.719A>G n.3011A>G c.2838A>G (p.Gln946=) c.2115A>G (p.Gln705=) c.666A>G (p.Gln222=) | |
2 | g.165344860A>T | CA349016276 | SCN2A | c.2868A>T (p.Gln956His) c.*1187A>T (n.*1187A>T) c.*855A>T (n.*855A>T) c.*3391A>T (n.*3391A>T) c.*810A>T (n.*810A>T) c.2472A>T (p.Gln824His) c.306A>T (p.Gln102His) c.719A>T n.3011A>T c.2838A>T (p.Gln946His) c.2115A>T (p.Gln705His) c.666A>T (p.Gln222His) |