UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |