| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165344759T>A | CA349015396 | SCN2A | c.2767T>A (p.Trp923Arg) c.*1086T>A (n.*1086T>A) c.*754T>A (n.*754T>A) c.*3290T>A (n.*3290T>A) c.*709T>A (n.*709T>A) c.2371T>A (p.Trp791Arg) c.205T>A (p.Trp69Arg) c.618T>A n.2910T>A c.2737T>A (p.Trp913Arg) c.2014T>A (p.Trp672Arg) c.565T>A (p.Trp189Arg) | |
| 2 | g.165344759T>C | CA16603904 | SCN2A | c.2767T>C (p.Trp923Arg) c.*1086T>C (n.*1086T>C) c.*754T>C (n.*754T>C) c.*3290T>C (n.*3290T>C) c.*709T>C (n.*709T>C) c.2371T>C (p.Trp791Arg) c.205T>C (p.Trp69Arg) c.618T>C n.2910T>C c.2737T>C (p.Trp913Arg) c.2014T>C (p.Trp672Arg) c.565T>C (p.Trp189Arg) | ClinVar dbSNP |
| 2 | g.165344759T>G | CA349015388 | SCN2A | c.2767T>G (p.Trp923Gly) c.*1086T>G (n.*1086T>G) c.*754T>G (n.*754T>G) c.*3290T>G (n.*3290T>G) c.*709T>G (n.*709T>G) c.2371T>G (p.Trp791Gly) c.205T>G (p.Trp69Gly) c.618T>G n.2910T>G c.2737T>G (p.Trp913Gly) c.2014T>G (p.Trp672Gly) c.565T>G (p.Trp189Gly) | |
| 2 | g.165344759T= | CA1304545522 | SCN2A | c.2767T= (p.Trp923=) c.*1086T= (n.*1086T=) c.*754T= (n.*754T=) c.*3290T= (n.*3290T=) c.*709T= (n.*709T=) c.2371T= (p.Trp791=) c.205T= (p.Trp69=) c.618T= n.2910T= c.2737T= (p.Trp913=) c.2014T= (p.Trp672=) c.565T= (p.Trp189=) | |
| 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) |