| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |