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.165386798T>A | CA349036267 | SCN2A | c.4604T>A (p.Ile1535Asn) c.*2923T>A (n.*2923T>A) c.*2591T>A (n.*2591T>A) c.*5127T>A (n.*5127T>A) c.*2546T>A (n.*2546T>A) c.4208T>A (p.Ile1403Asn) n.8035T>A c.4574T>A (p.Ile1525Asn) c.3851T>A (p.Ile1284Asn) c.2402T>A (p.Ile801Asn) | |
| 2 | g.165386798T>C | CA349036268 | SCN2A | c.4604T>C (p.Ile1535Thr) c.*2923T>C (n.*2923T>C) c.*2591T>C (n.*2591T>C) c.*5127T>C (n.*5127T>C) c.*2546T>C (n.*2546T>C) c.4208T>C (p.Ile1403Thr) n.8035T>C c.4574T>C (p.Ile1525Thr) c.3851T>C (p.Ile1284Thr) c.2402T>C (p.Ile801Thr) | |
| 2 | g.165386798T>G | CA349036269 | SCN2A | c.4604T>G (p.Ile1535Ser) c.*2923T>G (n.*2923T>G) c.*2591T>G (n.*2591T>G) c.*5127T>G (n.*5127T>G) c.*2546T>G (n.*2546T>G) c.4208T>G (p.Ile1403Ser) n.8035T>G c.4574T>G (p.Ile1525Ser) c.3851T>G (p.Ile1284Ser) c.2402T>G (p.Ile801Ser) | |
| 2 | g.165386799C>A | CA429972490 | SCN2A | c.4605C>A (p.Ile1535=) c.*2924C>A (n.*2924C>A) c.*2592C>A (n.*2592C>A) c.*5128C>A (n.*5128C>A) c.*2547C>A (n.*2547C>A) c.4209C>A (p.Ile1403=) n.8036C>A c.4575C>A (p.Ile1525=) c.3852C>A (p.Ile1284=) c.2403C>A (p.Ile801=) | |
| 2 | g.165386799C>G | CA349036270 | SCN2A | c.4605C>G (p.Ile1535Met) c.*2924C>G (n.*2924C>G) c.*2592C>G (n.*2592C>G) c.*5128C>G (n.*5128C>G) c.*2547C>G (n.*2547C>G) c.4209C>G (p.Ile1403Met) n.8036C>G c.4575C>G (p.Ile1525Met) c.3852C>G (p.Ile1284Met) c.2403C>G (p.Ile801Met) | |
| 2 | g.165386799C>T | CA429972491 | SCN2A | c.4605C>T (p.Ile1535=) c.*2924C>T (n.*2924C>T) c.*2592C>T (n.*2592C>T) c.*5128C>T (n.*5128C>T) c.*2547C>T (n.*2547C>T) c.4209C>T (p.Ile1403=) n.8036C>T c.4575C>T (p.Ile1525=) c.3852C>T (p.Ile1284=) c.2403C>T (p.Ile801=) | |
| 2 | g.165386800A= | CA1304563752 | SCN2A | c.4606A= (p.Ser1536=) c.*2925A= (n.*2925A=) c.*2593A= (n.*2593A=) c.*5129A= (n.*5129A=) c.*2548A= (n.*2548A=) c.4210A= (p.Ser1404=) n.8037A= c.4576A= (p.Ser1526=) c.3853A= (p.Ser1285=) c.2404A= (p.Ser802=) | |
| 2 | g.165386800A>C | CA349036271 | SCN2A | c.4606A>C (p.Ser1536Arg) c.*2925A>C (n.*2925A>C) c.*2593A>C (n.*2593A>C) c.*5129A>C (n.*5129A>C) c.*2548A>C (n.*2548A>C) c.4210A>C (p.Ser1404Arg) n.8037A>C c.4576A>C (p.Ser1526Arg) c.3853A>C (p.Ser1285Arg) c.2404A>C (p.Ser802Arg) | |
| 2 | g.165386800A>G | CA349036273 | SCN2A | c.4606A>G (p.Ser1536Gly) c.*2925A>G (n.*2925A>G) c.*2593A>G (n.*2593A>G) c.*5129A>G (n.*5129A>G) c.*2548A>G (n.*2548A>G) c.4210A>G (p.Ser1404Gly) n.8037A>G c.4576A>G (p.Ser1526Gly) c.3853A>G (p.Ser1285Gly) c.2404A>G (p.Ser802Gly) | ClinVar dbSNP |
| 2 | g.165386800A>T | CA349036272 | SCN2A | c.4606A>T (p.Ser1536Cys) c.*2925A>T (n.*2925A>T) c.*2593A>T (n.*2593A>T) c.*5129A>T (n.*5129A>T) c.*2548A>T (n.*2548A>T) c.4210A>T (p.Ser1404Cys) n.8037A>T c.4576A>T (p.Ser1526Cys) c.3853A>T (p.Ser1285Cys) c.2404A>T (p.Ser802Cys) | |
| 2 | g.165386801G>A | CA59750878 | SCN2A | c.4607G>A (p.Ser1536Asn) c.*2926G>A (n.*2926G>A) c.*2594G>A (n.*2594G>A) c.*5130G>A (n.*5130G>A) c.*2549G>A (n.*2549G>A) c.4211G>A (p.Ser1404Asn) n.8038G>A c.4577G>A (p.Ser1526Asn) c.3854G>A (p.Ser1285Asn) c.2405G>A (p.Ser802Asn) | ClinVar dbSNP |
| 2 | g.165386801G>C | CA349036274 | SCN2A | c.4607G>C (p.Ser1536Thr) c.*2926G>C (n.*2926G>C) c.*2594G>C (n.*2594G>C) c.*5130G>C (n.*5130G>C) c.*2549G>C (n.*2549G>C) c.4211G>C (p.Ser1404Thr) n.8038G>C c.4577G>C (p.Ser1526Thr) c.3854G>C (p.Ser1285Thr) c.2405G>C (p.Ser802Thr) | |
| 2 | g.165386801G= | CA1304563753 | SCN2A | c.4607G= (p.Ser1536=) c.*2926G= (n.*2926G=) c.*2594G= (n.*2594G=) c.*5130G= (n.*5130G=) c.*2549G= (n.*2549G=) c.4211G= (p.Ser1404=) n.8038G= c.4577G= (p.Ser1526=) c.3854G= (p.Ser1285=) c.2405G= (p.Ser802=) | |
| 2 | g.165386801G>T | CA349036275 | SCN2A | c.4607G>T (p.Ser1536Ile) c.*2926G>T (n.*2926G>T) c.*2594G>T (n.*2594G>T) c.*5130G>T (n.*5130G>T) c.*2549G>T (n.*2549G>T) c.4211G>T (p.Ser1404Ile) n.8038G>T c.4577G>T (p.Ser1526Ile) c.3854G>T (p.Ser1285Ile) c.2405G>T (p.Ser802Ile) | |
| 2 | g.165386802C>A | CA349036276 | SCN2A | c.4608C>A (p.Ser1536Arg) c.*2927C>A (n.*2927C>A) c.*2595C>A (n.*2595C>A) c.*5131C>A (n.*5131C>A) c.*2550C>A (n.*2550C>A) c.4212C>A (p.Ser1404Arg) n.8039C>A c.4578C>A (p.Ser1526Arg) c.3855C>A (p.Ser1285Arg) c.2406C>A (p.Ser802Arg) | |
| 2 | g.165386802C= | CA1304563754 | SCN2A | c.4608C= (p.Ser1536=) c.*2927C= (n.*2927C=) c.*2595C= (n.*2595C=) c.*5131C= (n.*5131C=) c.*2550C= (n.*2550C=) c.4212C= (p.Ser1404=) n.8039C= c.4578C= (p.Ser1526=) c.3855C= (p.Ser1285=) c.2406C= (p.Ser802=) | |
| 2 | g.165386802C>G | CA349036277 | SCN2A | c.4608C>G (p.Ser1536Arg) c.*2927C>G (n.*2927C>G) c.*2595C>G (n.*2595C>G) c.*5131C>G (n.*5131C>G) c.*2550C>G (n.*2550C>G) c.4212C>G (p.Ser1404Arg) n.8039C>G c.4578C>G (p.Ser1526Arg) c.3855C>G (p.Ser1285Arg) c.2406C>G (p.Ser802Arg) | |
| 2 | g.165386802C>T | CA1940306 | SCN2A | c.4608C>T (p.Ser1536=) c.*2927C>T (n.*2927C>T) c.*2595C>T (n.*2595C>T) c.*5131C>T (n.*5131C>T) c.*2550C>T (n.*2550C>T) c.4212C>T (p.Ser1404=) n.8039C>T c.4578C>T (p.Ser1526=) c.3855C>T (p.Ser1285=) c.2406C>T (p.Ser802=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165386803A>C | CA349036278 | SCN2A | c.4609A>C (p.Ile1537Leu) c.*2928A>C (n.*2928A>C) c.*2596A>C (n.*2596A>C) c.*5132A>C (n.*5132A>C) c.*2551A>C (n.*2551A>C) c.4213A>C (p.Ile1405Leu) n.8040A>C c.4579A>C (p.Ile1527Leu) c.3856A>C (p.Ile1286Leu) c.2407A>C (p.Ile803Leu) | |
| 2 | g.165386803A>G | CA349036279 | SCN2A | c.4609A>G (p.Ile1537Val) c.*2928A>G (n.*2928A>G) c.*2596A>G (n.*2596A>G) c.*5132A>G (n.*5132A>G) c.*2551A>G (n.*2551A>G) c.4213A>G (p.Ile1405Val) n.8040A>G c.4579A>G (p.Ile1527Val) c.3856A>G (p.Ile1286Val) c.2407A>G (p.Ile803Val) | gnomAD v4 |
| 2 | g.165386803A>T | CA349036280 | SCN2A | c.4609A>T (p.Ile1537Phe) c.*2928A>T (n.*2928A>T) c.*2596A>T (n.*2596A>T) c.*5132A>T (n.*5132A>T) c.*2551A>T (n.*2551A>T) c.4213A>T (p.Ile1405Phe) n.8040A>T c.4579A>T (p.Ile1527Phe) c.3856A>T (p.Ile1286Phe) c.2407A>T (p.Ile803Phe) | |
| 2 | g.165386804T>A | CA349036281 | SCN2A | c.4610T>A (p.Ile1537Asn) c.*2929T>A (n.*2929T>A) c.*2597T>A (n.*2597T>A) c.*5133T>A (n.*5133T>A) c.*2552T>A (n.*2552T>A) c.4214T>A (p.Ile1405Asn) n.8041T>A c.4580T>A (p.Ile1527Asn) c.3857T>A (p.Ile1286Asn) c.2408T>A (p.Ile803Asn) | |
| 2 | g.165386804T>C | CA349036282 | SCN2A | c.4610T>C (p.Ile1537Thr) c.*2929T>C (n.*2929T>C) c.*2597T>C (n.*2597T>C) c.*5133T>C (n.*5133T>C) c.*2552T>C (n.*2552T>C) c.4214T>C (p.Ile1405Thr) n.8041T>C c.4580T>C (p.Ile1527Thr) c.3857T>C (p.Ile1286Thr) c.2408T>C (p.Ile803Thr) | ClinVar dbSNP |
| 2 | g.165386804T>G | CA317982 | SCN2A | c.4610T>G (p.Ile1537Ser) c.*2929T>G (n.*2929T>G) c.*2597T>G (n.*2597T>G) c.*5133T>G (n.*5133T>G) c.*2552T>G (n.*2552T>G) c.4214T>G (p.Ile1405Ser) n.8041T>G c.4580T>G (p.Ile1527Ser) c.3857T>G (p.Ile1286Ser) c.2408T>G (p.Ile803Ser) | dbSNP |
| 2 | g.165386804T= | CA1304563756 | SCN2A | c.4610T= (p.Ile1537=) c.*2929T= (n.*2929T=) c.*2597T= (n.*2597T=) c.*5133T= (n.*5133T=) c.*2552T= (n.*2552T=) c.4214T= (p.Ile1405=) n.8041T= c.4580T= (p.Ile1527=) c.3857T= (p.Ile1286=) c.2408T= (p.Ile803=) | |
| 2 | g.165386804_165386808delinsGCATC | CA318182 | SCN2A | c.4610_4614delinsGCATC (p.Ile1537_Met1538delinsSerIle) c.*2929_*2933delinsGCATC (n.*2929_*2933delinsGCATC) c.*2597_*2601delinsGCATC (n.*2597_*2601delinsGCATC) c.*5133_*5137delinsGCATC (n.*5133_*5137delinsGCATC) c.*2552_*2556delinsGCATC (n.*2552_*2556delinsGCATC) c.4214_4218delinsGCATC (p.Ile1405_Met1406delinsSerIle) n.8041_8045delinsGCATC c.4580_4584delinsGCATC (p.Ile1527_Met1528delinsSerIle) c.3857_3861delinsGCATC (p.Ile1286_Met1287delinsSerIle) c.2408_2412delinsGCATC (p.Ile803_Met804delinsSerIle) | ClinVar dbSNP |
| 2 | g.165386804_165386808delinsTCATG | CA1304563755 | SCN2A | c.4610_4614delinsTCATG (p.Ile1537=) c.*2929_*2933delinsTCATG (n.*2929_*2933delinsTCATG) c.*2597_*2601delinsTCATG (n.*2597_*2601delinsTCATG) c.*5133_*5137delinsTCATG (n.*5133_*5137delinsTCATG) c.*2552_*2556delinsTCATG (n.*2552_*2556delinsTCATG) c.4214_4218delinsTCATG (p.Ile1405=) n.8041_8045delinsTCATG c.4580_4584delinsTCATG (p.Ile1527=) c.3857_3861delinsTCATG (p.Ile1286=) c.2408_2412delinsTCATG (p.Ile803=) | |
| 2 | g.165386805C>A | CA429972500 | SCN2A | c.4611C>A (p.Ile1537=) c.*2930C>A (n.*2930C>A) c.*2598C>A (n.*2598C>A) c.*5134C>A (n.*5134C>A) c.*2553C>A (n.*2553C>A) c.4215C>A (p.Ile1405=) n.8042C>A c.4581C>A (p.Ile1527=) c.3858C>A (p.Ile1286=) c.2409C>A (p.Ile803=) | |
| 2 | g.165386805C>G | CA349036283 | SCN2A | c.4611C>G (p.Ile1537Met) c.*2930C>G (n.*2930C>G) c.*2598C>G (n.*2598C>G) c.*5134C>G (n.*5134C>G) c.*2553C>G (n.*2553C>G) c.4215C>G (p.Ile1405Met) n.8042C>G c.4581C>G (p.Ile1527Met) c.3858C>G (p.Ile1286Met) c.2409C>G (p.Ile803Met) | |
| 2 | g.165386805C>T | CA429972502 | SCN2A | c.4611C>T (p.Ile1537=) c.*2930C>T (n.*2930C>T) c.*2598C>T (n.*2598C>T) c.*5134C>T (n.*5134C>T) c.*2553C>T (n.*2553C>T) c.4215C>T (p.Ile1405=) n.8042C>T c.4581C>T (p.Ile1527=) c.3858C>T (p.Ile1286=) c.2409C>T (p.Ile803=) | |
| 2 | g.165386806A= | CA1304563757 | SCN2A | c.4612A= (p.Met1538=) c.*2931A= (n.*2931A=) c.*2599A= (n.*2599A=) c.*5135A= (n.*5135A=) c.*2554A= (n.*2554A=) c.4216A= (p.Met1406=) n.8043A= c.4582A= (p.Met1528=) c.3859A= (p.Met1287=) c.2410A= (p.Met804=) | |
| 2 | g.165386806A>C | CA349036284 | SCN2A | c.4612A>C (p.Met1538Leu) c.*2931A>C (n.*2931A>C) c.*2599A>C (n.*2599A>C) c.*5135A>C (n.*5135A>C) c.*2554A>C (n.*2554A>C) c.4216A>C (p.Met1406Leu) n.8043A>C c.4582A>C (p.Met1528Leu) c.3859A>C (p.Met1287Leu) c.2410A>C (p.Met804Leu) | |
| 2 | g.165386806A>G | CA317988 | SCN2A | c.4612A>G (p.Met1538Val) c.*2931A>G (n.*2931A>G) c.*2599A>G (n.*2599A>G) c.*5135A>G (n.*5135A>G) c.*2554A>G (n.*2554A>G) c.4216A>G (p.Met1406Val) n.8043A>G c.4582A>G (p.Met1528Val) c.3859A>G (p.Met1287Val) c.2410A>G (p.Met804Val) | ClinVar dbSNP |
| 2 | g.165386806A>T | CA349036285 | SCN2A | c.4612A>T (p.Met1538Leu) c.*2931A>T (n.*2931A>T) c.*2599A>T (n.*2599A>T) c.*5135A>T (n.*5135A>T) c.*2554A>T (n.*2554A>T) c.4216A>T (p.Met1406Leu) n.8043A>T c.4582A>T (p.Met1528Leu) c.3859A>T (p.Met1287Leu) c.2410A>T (p.Met804Leu) | |
| 2 | g.165386807T>A | CA349036286 | SCN2A | c.4613T>A (p.Met1538Lys) c.*2932T>A (n.*2932T>A) c.*2600T>A (n.*2600T>A) c.*5136T>A (n.*5136T>A) c.*2555T>A (n.*2555T>A) c.4217T>A (p.Met1406Lys) n.8044T>A c.4583T>A (p.Met1528Lys) c.3860T>A (p.Met1287Lys) c.2411T>A (p.Met804Lys) | |
| 2 | g.165386807T>C | CA349036288 | SCN2A | c.4613T>C (p.Met1538Thr) c.*2932T>C (n.*2932T>C) c.*2600T>C (n.*2600T>C) c.*5136T>C (n.*5136T>C) c.*2555T>C (n.*2555T>C) c.4217T>C (p.Met1406Thr) n.8044T>C c.4583T>C (p.Met1528Thr) c.3860T>C (p.Met1287Thr) c.2411T>C (p.Met804Thr) | |
| 2 | g.165386807T>G | CA349036287 | SCN2A | c.4613T>G (p.Met1538Arg) c.*2932T>G (n.*2932T>G) c.*2600T>G (n.*2600T>G) c.*5136T>G (n.*5136T>G) c.*2555T>G (n.*2555T>G) c.4217T>G (p.Met1406Arg) n.8044T>G c.4583T>G (p.Met1528Arg) c.3860T>G (p.Met1287Arg) c.2411T>G (p.Met804Arg) | |
| 2 | g.165386808G>A | CA349036289 | SCN2A | c.4614G>A (p.Met1538Ile) c.*2933G>A (n.*2933G>A) c.*2601G>A (n.*2601G>A) c.*5137G>A (n.*5137G>A) c.*2556G>A (n.*2556G>A) c.4218G>A (p.Met1406Ile) n.8045G>A c.4584G>A (p.Met1528Ile) c.3861G>A (p.Met1287Ile) c.2412G>A (p.Met804Ile) | ClinVar dbSNP |
| 2 | g.165386808G>C | CA317991 | SCN2A | c.4614G>C (p.Met1538Ile) c.*2933G>C (n.*2933G>C) c.*2601G>C (n.*2601G>C) c.*5137G>C (n.*5137G>C) c.*2556G>C (n.*2556G>C) c.4218G>C (p.Met1406Ile) n.8045G>C c.4584G>C (p.Met1528Ile) c.3861G>C (p.Met1287Ile) c.2412G>C (p.Met804Ile) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165386808G= | CA1304563758 | SCN2A | c.4614G= (p.Met1538=) c.*2933G= (n.*2933G=) c.*2601G= (n.*2601G=) c.*5137G= (n.*5137G=) c.*2556G= (n.*2556G=) c.4218G= (p.Met1406=) n.8045G= c.4584G= (p.Met1528=) c.3861G= (p.Met1287=) c.2412G= (p.Met804=) | |
| 2 | g.165386808G>T | CA349036290 | SCN2A | c.4614G>T (p.Met1538Ile) c.*2933G>T (n.*2933G>T) c.*2601G>T (n.*2601G>T) c.*5137G>T (n.*5137G>T) c.*2556G>T (n.*2556G>T) c.4218G>T (p.Met1406Ile) n.8045G>T c.4584G>T (p.Met1528Ile) c.3861G>T (p.Met1287Ile) c.2412G>T (p.Met804Ile) | ClinVar dbSNP |
| 2 | g.165386809A= | CA1304563759 | SCN2A | c.4615A= (p.Ile1539=) c.*2934A= (n.*2934A=) c.*2602A= (n.*2602A=) c.*5138A= (n.*5138A=) c.*2557A= (n.*2557A=) c.4219A= (p.Ile1407=) n.8046A= c.4585A= (p.Ile1529=) c.3862A= (p.Ile1288=) c.2413A= (p.Ile805=) | |
| 2 | g.165386809A>C | CA349036291 | SCN2A | c.4615A>C (p.Ile1539Leu) c.*2934A>C (n.*2934A>C) c.*2602A>C (n.*2602A>C) c.*5138A>C (n.*5138A>C) c.*2557A>C (n.*2557A>C) c.4219A>C (p.Ile1407Leu) n.8046A>C c.4585A>C (p.Ile1529Leu) c.3862A>C (p.Ile1288Leu) c.2413A>C (p.Ile805Leu) | |
| 2 | g.165386809A>G | CA1940307 | SCN2A | c.4615A>G (p.Ile1539Val) c.*2934A>G (n.*2934A>G) c.*2602A>G (n.*2602A>G) c.*5138A>G (n.*5138A>G) c.*2557A>G (n.*2557A>G) c.4219A>G (p.Ile1407Val) n.8046A>G c.4585A>G (p.Ile1529Val) c.3862A>G (p.Ile1288Val) c.2413A>G (p.Ile805Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165386809A>T | CA349036292 | SCN2A | c.4615A>T (p.Ile1539Phe) c.*2934A>T (n.*2934A>T) c.*2602A>T (n.*2602A>T) c.*5138A>T (n.*5138A>T) c.*2557A>T (n.*2557A>T) c.4219A>T (p.Ile1407Phe) n.8046A>T c.4585A>T (p.Ile1529Phe) c.3862A>T (p.Ile1288Phe) c.2413A>T (p.Ile805Phe) | dbSNP gnomAD v2 |
| 2 | g.165386810T>A | CA349036293 | SCN2A | c.4616T>A (p.Ile1539Asn) c.*2935T>A (n.*2935T>A) c.*2603T>A (n.*2603T>A) c.*5139T>A (n.*5139T>A) c.*2558T>A (n.*2558T>A) c.4220T>A (p.Ile1407Asn) n.8047T>A c.4586T>A (p.Ile1529Asn) c.3863T>A (p.Ile1288Asn) c.2414T>A (p.Ile805Asn) | |
| 2 | g.165386810T>C | CA349036294 | SCN2A | c.4616T>C (p.Ile1539Thr) c.*2935T>C (n.*2935T>C) c.*2603T>C (n.*2603T>C) c.*5139T>C (n.*5139T>C) c.*2558T>C (n.*2558T>C) c.4220T>C (p.Ile1407Thr) n.8047T>C c.4586T>C (p.Ile1529Thr) c.3863T>C (p.Ile1288Thr) c.2414T>C (p.Ile805Thr) | |
| 2 | g.165386810T>G | CA349036295 | SCN2A | c.4616T>G (p.Ile1539Ser) c.*2935T>G (n.*2935T>G) c.*2603T>G (n.*2603T>G) c.*5139T>G (n.*5139T>G) c.*2558T>G (n.*2558T>G) c.4220T>G (p.Ile1407Ser) n.8047T>G c.4586T>G (p.Ile1529Ser) c.3863T>G (p.Ile1288Ser) c.2414T>G (p.Ile805Ser) | |
| 2 | g.165386811C>A | CA1940308 | SCN2A | c.4617C>A (p.Ile1539=) c.*2936C>A (n.*2936C>A) c.*2604C>A (n.*2604C>A) c.*5140C>A (n.*5140C>A) c.*2559C>A (n.*2559C>A) c.4221C>A (p.Ile1407=) n.8048C>A c.4587C>A (p.Ile1529=) c.3864C>A (p.Ile1288=) c.2415C>A (p.Ile805=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165386811C= | CA1304563760 | SCN2A | c.4617C= (p.Ile1539=) c.*2936C= (n.*2936C=) c.*2604C= (n.*2604C=) c.*5140C= (n.*5140C=) c.*2559C= (n.*2559C=) c.4221C= (p.Ile1407=) n.8048C= c.4587C= (p.Ile1529=) c.3864C= (p.Ile1288=) c.2415C= (p.Ile805=) |