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.165097277G>A | CA349024901 | SCN3A | c.4163C>T (p.Ala1388Val) c.4214C>T (p.Ala1405Val) c.*2055C>T (n.*2055C>T) c.*948C>T (n.*948C>T) c.2423C>T (n.2423C>T) c.4067C>T (p.Ala1356Val) n.338C>T c.2324C>T (p.Ala775Val) c.4076C>T (p.Ala1359Val) | |
| 2 | g.165097277G>C | CA349024898 | SCN3A | c.4163C>G (p.Ala1388Gly) c.4214C>G (p.Ala1405Gly) c.*2055C>G (n.*2055C>G) c.*948C>G (n.*948C>G) c.2423C>G (n.2423C>G) c.4067C>G (p.Ala1356Gly) n.338C>G c.2324C>G (p.Ala775Gly) c.4076C>G (p.Ala1359Gly) | |
| 2 | g.165097277G>T | CA349024899 | SCN3A | c.4163C>A (p.Ala1388Asp) c.4214C>A (p.Ala1405Asp) c.*2055C>A (n.*2055C>A) c.*948C>A (n.*948C>A) c.2423C>A (n.2423C>A) c.4067C>A (p.Ala1356Asp) n.338C>A c.2324C>A (p.Ala775Asp) c.4076C>A (p.Ala1359Asp) | |
| 2 | g.165097278C>A | CA1938632 | SCN3A | c.4162G>T (p.Ala1388Ser) c.4213G>T (p.Ala1405Ser) c.*2054G>T (n.*2054G>T) c.*947G>T (n.*947G>T) c.2422G>T (n.2422G>T) c.4066G>T (p.Ala1356Ser) n.337G>T c.2323G>T (p.Ala775Ser) c.4075G>T (p.Ala1359Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097278C= | CA1304438414 | SCN3A | c.4162G= (p.Ala1388=) c.4213G= (p.Ala1405=) c.*2054G= (n.*2054G=) c.*947G= (n.*947G=) c.2422G= (n.2422G=) c.4066G= (p.Ala1356=) n.337G= c.2323G= (p.Ala775=) c.4075G= (p.Ala1359=) | |
| 2 | g.165097278C>G | CA349024909 | SCN3A | c.4162G>C (p.Ala1388Pro) c.4213G>C (p.Ala1405Pro) c.*2054G>C (n.*2054G>C) c.*947G>C (n.*947G>C) c.2422G>C (n.2422G>C) c.4066G>C (p.Ala1356Pro) n.337G>C c.2323G>C (p.Ala775Pro) c.4075G>C (p.Ala1359Pro) | |
| 2 | g.165097278C>T | CA1938631 | SCN3A | c.4162G>A (p.Ala1388Thr) c.4213G>A (p.Ala1405Thr) c.*2054G>A (n.*2054G>A) c.*947G>A (n.*947G>A) c.2422G>A (n.2422G>A) c.4066G>A (p.Ala1356Thr) n.337G>A c.2323G>A (p.Ala775Thr) c.4075G>A (p.Ala1359Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097279G>A | CA1938633 | SCN3A | c.4161C>T (p.Gly1387=) c.4212C>T (p.Gly1404=) c.*2053C>T (n.*2053C>T) c.*946C>T (n.*946C>T) c.2421C>T (n.2421C>T) c.4065C>T (p.Gly1355=) n.336C>T c.2322C>T (p.Gly774=) c.4074C>T (p.Gly1358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.165097279G>C | CA429880802 | SCN3A | c.4161C>G (p.Gly1387=) c.4212C>G (p.Gly1404=) c.*2053C>G (n.*2053C>G) c.*946C>G (n.*946C>G) c.2421C>G (n.2421C>G) c.4065C>G (p.Gly1355=) n.336C>G c.2322C>G (p.Gly774=) c.4074C>G (p.Gly1358=) | |
| 2 | g.165097279G= | CA1304438415 | SCN3A | c.4161C= (p.Gly1387=) c.4212C= (p.Gly1404=) c.*2053C= (n.*2053C=) c.*946C= (n.*946C=) c.2421C= (n.2421C=) c.4065C= (p.Gly1355=) n.336C= c.2322C= (p.Gly774=) c.4074C= (p.Gly1358=) | |
| 2 | g.165097279G>T | CA429880801 | SCN3A | c.4161C>A (p.Gly1387=) c.4212C>A (p.Gly1404=) c.*2053C>A (n.*2053C>A) c.*946C>A (n.*946C>A) c.2421C>A (n.2421C>A) c.4065C>A (p.Gly1355=) n.336C>A c.2322C>A (p.Gly774=) c.4074C>A (p.Gly1358=) | |
| 2 | g.165097280C>A | CA349024919 | SCN3A | c.4160G>T (p.Gly1387Val) c.4211G>T (p.Gly1404Val) c.*2052G>T (n.*2052G>T) c.*945G>T (n.*945G>T) c.2420G>T (n.2420G>T) c.4064G>T (p.Gly1355Val) n.335G>T c.2321G>T (p.Gly774Val) c.4073G>T (p.Gly1358Val) | |
| 2 | g.165097280C>G | CA349024932 | SCN3A | c.4160G>C (p.Gly1387Ala) c.4211G>C (p.Gly1404Ala) c.*2052G>C (n.*2052G>C) c.*945G>C (n.*945G>C) c.2420G>C (n.2420G>C) c.4064G>C (p.Gly1355Ala) n.335G>C c.2321G>C (p.Gly774Ala) c.4073G>C (p.Gly1358Ala) | |
| 2 | g.165097280C>T | CA349024936 | SCN3A | c.4160G>A (p.Gly1387Asp) c.4211G>A (p.Gly1404Asp) c.*2052G>A (n.*2052G>A) c.*945G>A (n.*945G>A) c.2420G>A (n.2420G>A) c.4064G>A (p.Gly1355Asp) n.335G>A c.2321G>A (p.Gly774Asp) c.4073G>A (p.Gly1358Asp) | |
| 2 | g.165097281C>A | CA349024944 | SCN3A | c.4159G>T (p.Gly1387Cys) c.4210G>T (p.Gly1404Cys) c.*2051G>T (n.*2051G>T) c.*944G>T (n.*944G>T) c.2419G>T (n.2419G>T) c.4063G>T (p.Gly1355Cys) n.334G>T c.2320G>T (p.Gly774Cys) c.4072G>T (p.Gly1358Cys) | |
| 2 | g.165097281C>G | CA349024946 | SCN3A | c.4159G>C (p.Gly1387Arg) c.4210G>C (p.Gly1404Arg) c.*2051G>C (n.*2051G>C) c.*944G>C (n.*944G>C) c.2419G>C (n.2419G>C) c.4063G>C (p.Gly1355Arg) n.334G>C c.2320G>C (p.Gly774Arg) c.4072G>C (p.Gly1358Arg) | |
| 2 | g.165097281C>T | CA349024951 | SCN3A | c.4159G>A (p.Gly1387Ser) c.4210G>A (p.Gly1404Ser) c.*2051G>A (n.*2051G>A) c.*944G>A (n.*944G>A) c.2419G>A (n.2419G>A) c.4063G>A (p.Gly1355Ser) n.334G>A c.2320G>A (p.Gly774Ser) c.4072G>A (p.Gly1358Ser) | |
| 2 | g.165097282A>C | CA429880805 | SCN3A | c.4158T>G (p.Val1386=) c.4209T>G (p.Val1403=) c.*2050T>G (n.*2050T>G) c.*943T>G (n.*943T>G) c.2418T>G (n.2418T>G) c.4062T>G (p.Val1354=) n.333T>G c.2319T>G (p.Val773=) c.4071T>G (p.Val1357=) | |
| 2 | g.165097282A>G | CA429880804 | SCN3A | c.4158T>C (p.Val1386=) c.4209T>C (p.Val1403=) c.*2050T>C (n.*2050T>C) c.*943T>C (n.*943T>C) c.2418T>C (n.2418T>C) c.4062T>C (p.Val1354=) n.333T>C c.2319T>C (p.Val773=) c.4071T>C (p.Val1357=) | |
| 2 | g.165097282A>T | CA429880803 | SCN3A | c.4158T>A (p.Val1386=) c.4209T>A (p.Val1403=) c.*2050T>A (n.*2050T>A) c.*943T>A (n.*943T>A) c.2418T>A (n.2418T>A) c.4062T>A (p.Val1354=) n.333T>A c.2319T>A (p.Val773=) c.4071T>A (p.Val1357=) | |
| 2 | g.165097283A>C | CA349024959 | SCN3A | c.4157T>G (p.Val1386Gly) c.4208T>G (p.Val1403Gly) c.*2049T>G (n.*2049T>G) c.*942T>G (n.*942T>G) c.2417T>G (n.2417T>G) c.4061T>G (p.Val1354Gly) n.332T>G c.2318T>G (p.Val773Gly) c.4070T>G (p.Val1357Gly) | |
| 2 | g.165097283A>G | CA349024963 | SCN3A | c.4157T>C (p.Val1386Ala) c.4208T>C (p.Val1403Ala) c.*2049T>C (n.*2049T>C) c.*942T>C (n.*942T>C) c.2417T>C (n.2417T>C) c.4061T>C (p.Val1354Ala) n.332T>C c.2318T>C (p.Val773Ala) c.4070T>C (p.Val1357Ala) | |
| 2 | g.165097283A>T | CA349024965 | SCN3A | c.4157T>A (p.Val1386Asp) c.4208T>A (p.Val1403Asp) c.*2049T>A (n.*2049T>A) c.*942T>A (n.*942T>A) c.2417T>A (n.2417T>A) c.4061T>A (p.Val1354Asp) n.332T>A c.2318T>A (p.Val773Asp) c.4070T>A (p.Val1357Asp) | |
| 2 | g.165097284C>A | CA349024971 | SCN3A | c.4156G>T (p.Val1386Phe) c.4207G>T (p.Val1403Phe) c.*2048G>T (n.*2048G>T) c.*941G>T (n.*941G>T) c.2416G>T (n.2416G>T) c.4060G>T (p.Val1354Phe) n.331G>T c.2317G>T (p.Val773Phe) c.4069G>T (p.Val1357Phe) | |
| 2 | g.165097284C= | CA1304438416 | SCN3A | c.4156G= (p.Val1386=) c.4207G= (p.Val1403=) c.*2048G= (n.*2048G=) c.*941G= (n.*941G=) c.2416G= (n.2416G=) c.4060G= (p.Val1354=) n.331G= c.2317G= (p.Val773=) c.4069G= (p.Val1357=) | |
| 2 | g.165097284C>G | CA349024976 | SCN3A | c.4156G>C (p.Val1386Leu) c.4207G>C (p.Val1403Leu) c.*2048G>C (n.*2048G>C) c.*941G>C (n.*941G>C) c.2416G>C (n.2416G>C) c.4060G>C (p.Val1354Leu) n.331G>C c.2317G>C (p.Val773Leu) c.4069G>C (p.Val1357Leu) | |
| 2 | g.165097284C>T | CA59712651 | SCN3A | c.4156G>A (p.Val1386Ile) c.4207G>A (p.Val1403Ile) c.*2048G>A (n.*2048G>A) c.*941G>A (n.*941G>A) c.2416G>A (n.2416G>A) c.4060G>A (p.Val1354Ile) n.331G>A c.2317G>A (p.Val773Ile) c.4069G>A (p.Val1357Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165097285A>C | CA349024980 | SCN3A | c.4155T>G (p.Asn1385Lys) c.4206T>G (p.Asn1402Lys) c.*2047T>G (n.*2047T>G) c.*940T>G (n.*940T>G) c.2415T>G (n.2415T>G) c.4059T>G (p.Asn1353Lys) n.330T>G c.2316T>G (p.Asn772Lys) c.4068T>G (p.Asn1356Lys) | |
| 2 | g.165097285A>G | CA429880806 | SCN3A | c.4155T>C (p.Asn1385=) c.4206T>C (p.Asn1402=) c.*2047T>C (n.*2047T>C) c.*940T>C (n.*940T>C) c.2415T>C (n.2415T>C) c.4059T>C (p.Asn1353=) n.330T>C c.2316T>C (p.Asn772=) c.4068T>C (p.Asn1356=) | |
| 2 | g.165097285A>T | CA349024984 | SCN3A | c.4155T>A (p.Asn1385Lys) c.4206T>A (p.Asn1402Lys) c.*2047T>A (n.*2047T>A) c.*940T>A (n.*940T>A) c.2415T>A (n.2415T>A) c.4059T>A (p.Asn1353Lys) n.330T>A c.2316T>A (p.Asn772Lys) c.4068T>A (p.Asn1356Lys) | |
| 2 | g.165097286T>A | CA349024985 | SCN3A | c.4154A>T (p.Asn1385Ile) c.4205A>T (p.Asn1402Ile) c.*2046A>T (n.*2046A>T) c.*939A>T (n.*939A>T) c.2414A>T (n.2414A>T) c.4058A>T (p.Asn1353Ile) n.329A>T c.2315A>T (p.Asn772Ile) c.4067A>T (p.Asn1356Ile) | |
| 2 | g.165097286T>C | CA349024986 | SCN3A | c.4154A>G (p.Asn1385Ser) c.4205A>G (p.Asn1402Ser) c.*2046A>G (n.*2046A>G) c.*939A>G (n.*939A>G) c.2414A>G (n.2414A>G) c.4058A>G (p.Asn1353Ser) n.329A>G c.2315A>G (p.Asn772Ser) c.4067A>G (p.Asn1356Ser) | |
| 2 | g.165097286T>G | CA349024990 | SCN3A | c.4154A>C (p.Asn1385Thr) c.4205A>C (p.Asn1402Thr) c.*2046A>C (n.*2046A>C) c.*939A>C (n.*939A>C) c.2414A>C (n.2414A>C) c.4058A>C (p.Asn1353Thr) n.329A>C c.2315A>C (p.Asn772Thr) c.4067A>C (p.Asn1356Thr) | |
| 2 | g.165097287T>A | CA349024998 | SCN3A | c.4153A>T (p.Asn1385Tyr) c.4204A>T (p.Asn1402Tyr) c.*2045A>T (n.*2045A>T) c.*938A>T (n.*938A>T) c.2413A>T (n.2413A>T) c.4057A>T (p.Asn1353Tyr) n.328A>T c.2314A>T (p.Asn772Tyr) c.4066A>T (p.Asn1356Tyr) | |
| 2 | g.165097287T>C | CA349025007 | SCN3A | c.4153A>G (p.Asn1385Asp) c.4204A>G (p.Asn1402Asp) c.*2045A>G (n.*2045A>G) c.*938A>G (n.*938A>G) c.2413A>G (n.2413A>G) c.4057A>G (p.Asn1353Asp) n.328A>G c.2314A>G (p.Asn772Asp) c.4066A>G (p.Asn1356Asp) | ClinVar dbSNP |
| 2 | g.165097287T>G | CA349025014 | SCN3A | c.4153A>C (p.Asn1385His) c.4204A>C (p.Asn1402His) c.*2045A>C (n.*2045A>C) c.*938A>C (n.*938A>C) c.2413A>C (n.2413A>C) c.4057A>C (p.Asn1353His) n.328A>C c.2314A>C (p.Asn772His) c.4066A>C (p.Asn1356His) | |
| 2 | g.165097287T= | CA1304438417 | SCN3A | c.4153A= (p.Asn1385=) c.4204A= (p.Asn1402=) c.*2045A= (n.*2045A=) c.*938A= (n.*938A=) c.2413A= (n.2413A=) c.4057A= (p.Asn1353=) n.328A= c.2314A= (p.Asn772=) c.4066A= (p.Asn1356=) | |
| 2 | g.165097288A>C | CA349025019 | SCN3A | c.4152T>G (p.Asp1384Glu) c.4203T>G (p.Asp1401Glu) c.*2044T>G (n.*2044T>G) c.*937T>G (n.*937T>G) c.2412T>G (n.2412T>G) c.4056T>G (p.Asp1352Glu) n.327T>G c.2313T>G (p.Asp771Glu) c.4065T>G (p.Asp1355Glu) | |
| 2 | g.165097288A>G | CA429880807 | SCN3A | c.4152T>C (p.Asp1384=) c.4203T>C (p.Asp1401=) c.*2044T>C (n.*2044T>C) c.*937T>C (n.*937T>C) c.2412T>C (n.2412T>C) c.4056T>C (p.Asp1352=) n.327T>C c.2313T>C (p.Asp771=) c.4065T>C (p.Asp1355=) | gnomAD v4 |
| 2 | g.165097288A>T | CA349025026 | SCN3A | c.4152T>A (p.Asp1384Glu) c.4203T>A (p.Asp1401Glu) c.*2044T>A (n.*2044T>A) c.*937T>A (n.*937T>A) c.2412T>A (n.2412T>A) c.4056T>A (p.Asp1352Glu) n.327T>A c.2313T>A (p.Asp771Glu) c.4065T>A (p.Asp1355Glu) | |
| 2 | g.165097289T>A | CA349025027 | SCN3A | c.4151A>T (p.Asp1384Val) c.4202A>T (p.Asp1401Val) c.*2043A>T (n.*2043A>T) c.*936A>T (n.*936A>T) c.2411A>T (n.2411A>T) c.4055A>T (p.Asp1352Val) n.326A>T c.2312A>T (p.Asp771Val) c.4064A>T (p.Asp1355Val) | |
| 2 | g.165097289T>C | CA349025029 | SCN3A | c.4151A>G (p.Asp1384Gly) c.4202A>G (p.Asp1401Gly) c.*2043A>G (n.*2043A>G) c.*936A>G (n.*936A>G) c.2411A>G (n.2411A>G) c.4055A>G (p.Asp1352Gly) n.326A>G c.2312A>G (p.Asp771Gly) c.4064A>G (p.Asp1355Gly) | |
| 2 | g.165097289T>G | CA349025032 | SCN3A | c.4151A>C (p.Asp1384Ala) c.4202A>C (p.Asp1401Ala) c.*2043A>C (n.*2043A>C) c.*936A>C (n.*936A>C) c.2411A>C (n.2411A>C) c.4055A>C (p.Asp1352Ala) n.326A>C c.2312A>C (p.Asp771Ala) c.4064A>C (p.Asp1355Ala) | |
| 2 | g.165097290C>A | CA349025040 | SCN3A | c.4150G>T (p.Asp1384Tyr) c.4201G>T (p.Asp1401Tyr) c.*2042G>T (n.*2042G>T) c.*935G>T (n.*935G>T) c.2410G>T (n.2410G>T) c.4054G>T (p.Asp1352Tyr) n.325G>T c.2311G>T (p.Asp771Tyr) c.4063G>T (p.Asp1355Tyr) | |
| 2 | g.165097290C= | CA1304438418 | SCN3A | c.4150G= (p.Asp1384=) c.4201G= (p.Asp1401=) c.*2042G= (n.*2042G=) c.*935G= (n.*935G=) c.2410G= (n.2410G=) c.4054G= (p.Asp1352=) n.325G= c.2311G= (p.Asp771=) c.4063G= (p.Asp1355=) | |
| 2 | g.165097290C>G | CA349025045 | SCN3A | c.4150G>C (p.Asp1384His) c.4201G>C (p.Asp1401His) c.*2042G>C (n.*2042G>C) c.*935G>C (n.*935G>C) c.2410G>C (n.2410G>C) c.4054G>C (p.Asp1352His) n.325G>C c.2311G>C (p.Asp771His) c.4063G>C (p.Asp1355His) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165097290C>T | CA349025051 | SCN3A | c.4150G>A (p.Asp1384Asn) c.4201G>A (p.Asp1401Asn) c.*2042G>A (n.*2042G>A) c.*935G>A (n.*935G>A) c.2410G>A (n.2410G>A) c.4054G>A (p.Asp1352Asn) n.325G>A c.2311G>A (p.Asp771Asn) c.4063G>A (p.Asp1355Asn) | ClinVar COSMIC |
| 2 | g.165097291A>C | CA349025056 | SCN3A | c.4149T>G (p.Phe1383Leu) c.4200T>G (p.Phe1400Leu) c.*2041T>G (n.*2041T>G) c.*934T>G (n.*934T>G) c.2409T>G (n.2409T>G) c.4053T>G (p.Phe1351Leu) n.324T>G c.2310T>G (p.Phe770Leu) c.4062T>G (p.Phe1354Leu) | |
| 2 | g.165097291A>G | CA429880808 | SCN3A | c.4149T>C (p.Phe1383=) c.4200T>C (p.Phe1400=) c.*2041T>C (n.*2041T>C) c.*934T>C (n.*934T>C) c.2409T>C (n.2409T>C) c.4053T>C (p.Phe1351=) n.324T>C c.2310T>C (p.Phe770=) c.4062T>C (p.Phe1354=) | |
| 2 | g.165097291A>T | CA349025057 | SCN3A | c.4149T>A (p.Phe1383Leu) c.4200T>A (p.Phe1400Leu) c.*2041T>A (n.*2041T>A) c.*934T>A (n.*934T>A) c.2409T>A (n.2409T>A) c.4053T>A (p.Phe1351Leu) n.324T>A c.2310T>A (p.Phe770Leu) c.4062T>A (p.Phe1354Leu) | |
| 2 | g.165097292A>C | CA349025058 | SCN3A | c.4148T>G (p.Phe1383Cys) c.4199T>G (p.Phe1400Cys) c.*2040T>G (n.*2040T>G) c.*933T>G (n.*933T>G) c.2408T>G (n.2408T>G) c.4052T>G (p.Phe1351Cys) n.323T>G c.2309T>G (p.Phe770Cys) c.4061T>G (p.Phe1354Cys) | |
| 2 | g.165097292A>G | CA349025060 | SCN3A | c.4148T>C (p.Phe1383Ser) c.4199T>C (p.Phe1400Ser) c.*2040T>C (n.*2040T>C) c.*933T>C (n.*933T>C) c.2408T>C (n.2408T>C) c.4052T>C (p.Phe1351Ser) n.323T>C c.2309T>C (p.Phe770Ser) c.4061T>C (p.Phe1354Ser) | |
| 2 | g.165097292A>T | CA349025063 | SCN3A | c.4148T>A (p.Phe1383Tyr) c.4199T>A (p.Phe1400Tyr) c.*2040T>A (n.*2040T>A) c.*933T>A (n.*933T>A) c.2408T>A (n.2408T>A) c.4052T>A (p.Phe1351Tyr) n.323T>A c.2309T>A (p.Phe770Tyr) c.4061T>A (p.Phe1354Tyr) | |
| 2 | g.165097293A>C | CA349025064 | SCN3A | c.4147T>G (p.Phe1383Val) c.4198T>G (p.Phe1400Val) c.*2039T>G (n.*2039T>G) c.*932T>G (n.*932T>G) c.2407T>G (n.2407T>G) c.4051T>G (p.Phe1351Val) n.322T>G c.2308T>G (p.Phe770Val) c.4060T>G (p.Phe1354Val) | |
| 2 | g.165097293A>G | CA349025065 | SCN3A | c.4147T>C (p.Phe1383Leu) c.4198T>C (p.Phe1400Leu) c.*2039T>C (n.*2039T>C) c.*932T>C (n.*932T>C) c.2407T>C (n.2407T>C) c.4051T>C (p.Phe1351Leu) n.322T>C c.2308T>C (p.Phe770Leu) c.4060T>C (p.Phe1354Leu) | |
| 2 | g.165097293A>T | CA349025068 | SCN3A | c.4147T>A (p.Phe1383Ile) c.4198T>A (p.Phe1400Ile) c.*2039T>A (n.*2039T>A) c.*932T>A (n.*932T>A) c.2407T>A (n.2407T>A) c.4051T>A (p.Phe1351Ile) n.322T>A c.2308T>A (p.Phe770Ile) c.4060T>A (p.Phe1354Ile) | |
| 2 | g.165097294G>A | CA429880809 | SCN3A | c.4146C>T (p.Asn1382=) c.4197C>T (p.Asn1399=) c.*2038C>T (n.*2038C>T) c.*931C>T (n.*931C>T) c.2406C>T (n.2406C>T) c.4050C>T (p.Asn1350=) n.321C>T c.2307C>T (p.Asn769=) c.4059C>T (p.Asn1353=) | dbSNP |
| 2 | g.165097294G>C | CA349025072 | SCN3A | c.4146C>G (p.Asn1382Lys) c.4197C>G (p.Asn1399Lys) c.*2038C>G (n.*2038C>G) c.*931C>G (n.*931C>G) c.2406C>G (n.2406C>G) c.4050C>G (p.Asn1350Lys) n.321C>G c.2307C>G (p.Asn769Lys) c.4059C>G (p.Asn1353Lys) | |
| 2 | g.165097294G= | CA1304438419 | SCN3A | c.4146C= (p.Asn1382=) c.4197C= (p.Asn1399=) c.*2038C= (n.*2038C=) c.*931C= (n.*931C=) c.2406C= (n.2406C=) c.4050C= (p.Asn1350=) n.321C= c.2307C= (p.Asn769=) c.4059C= (p.Asn1353=) | |
| 2 | g.165097294G>T | CA349025075 | SCN3A | c.4146C>A (p.Asn1382Lys) c.4197C>A (p.Asn1399Lys) c.*2038C>A (n.*2038C>A) c.*931C>A (n.*931C>A) c.2406C>A (n.2406C>A) c.4050C>A (p.Asn1350Lys) n.321C>A c.2307C>A (p.Asn769Lys) c.4059C>A (p.Asn1353Lys) | |
| 2 | g.165097295T>A | CA349025097 | SCN3A | c.4145A>T (p.Asn1382Ile) c.4196A>T (p.Asn1399Ile) c.*2037A>T (n.*2037A>T) c.*930A>T (n.*930A>T) c.2405A>T (n.2405A>T) c.4049A>T (p.Asn1350Ile) n.320A>T c.2306A>T (p.Asn769Ile) c.4058A>T (p.Asn1353Ile) | |
| 2 | g.165097295T>C | CA349025098 | SCN3A | c.4145A>G (p.Asn1382Ser) c.4196A>G (p.Asn1399Ser) c.*2037A>G (n.*2037A>G) c.*930A>G (n.*930A>G) c.2405A>G (n.2405A>G) c.4049A>G (p.Asn1350Ser) n.320A>G c.2306A>G (p.Asn769Ser) c.4058A>G (p.Asn1353Ser) | |
| 2 | g.165097295T>G | CA349025099 | SCN3A | c.4145A>C (p.Asn1382Thr) c.4196A>C (p.Asn1399Thr) c.*2037A>C (n.*2037A>C) c.*930A>C (n.*930A>C) c.2405A>C (n.2405A>C) c.4049A>C (p.Asn1350Thr) n.320A>C c.2306A>C (p.Asn769Thr) c.4058A>C (p.Asn1353Thr) | |
| 2 | g.165097296T>A | CA349025105 | SCN3A | c.4144A>T (p.Asn1382Tyr) c.4195A>T (p.Asn1399Tyr) c.*2036A>T (n.*2036A>T) c.*929A>T (n.*929A>T) c.2404A>T (n.2404A>T) c.4048A>T (p.Asn1350Tyr) n.319A>T c.2305A>T (p.Asn769Tyr) c.4057A>T (p.Asn1353Tyr) | |
| 2 | g.165097296T>C | CA349025102 | SCN3A | c.4144A>G (p.Asn1382Asp) c.4195A>G (p.Asn1399Asp) c.*2036A>G (n.*2036A>G) c.*929A>G (n.*929A>G) c.2404A>G (n.2404A>G) c.4048A>G (p.Asn1350Asp) n.319A>G c.2305A>G (p.Asn769Asp) c.4057A>G (p.Asn1353Asp) | |
| 2 | g.165097296T>G | CA349025100 | SCN3A | c.4144A>C (p.Asn1382His) c.4195A>C (p.Asn1399His) c.*2036A>C (n.*2036A>C) c.*929A>C (n.*929A>C) c.2404A>C (n.2404A>C) c.4048A>C (p.Asn1350His) n.319A>C c.2305A>C (p.Asn769His) c.4057A>C (p.Asn1353His) | |
| 2 | g.165097297T>A | CA429880810 | SCN3A | c.4143A>T (p.Val1381=) c.4194A>T (p.Val1398=) c.*2035A>T (n.*2035A>T) c.*928A>T (n.*928A>T) c.2403A>T (n.2403A>T) c.4047A>T (p.Val1349=) n.318A>T c.2304A>T (p.Val768=) c.4056A>T (p.Val1352=) | |
| 2 | g.165097297T>C | CA429880811 | SCN3A | c.4143A>G (p.Val1381=) c.4194A>G (p.Val1398=) c.*2035A>G (n.*2035A>G) c.*928A>G (n.*928A>G) c.2403A>G (n.2403A>G) c.4047A>G (p.Val1349=) n.318A>G c.2304A>G (p.Val768=) c.4056A>G (p.Val1352=) | gnomAD v4 |
| 2 | g.165097297T>G | CA429880812 | SCN3A | c.4143A>C (p.Val1381=) c.4194A>C (p.Val1398=) c.*2035A>C (n.*2035A>C) c.*928A>C (n.*928A>C) c.2403A>C (n.2403A>C) c.4047A>C (p.Val1349=) n.318A>C c.2304A>C (p.Val768=) c.4056A>C (p.Val1352=) | |
| 2 | g.165097298A>C | CA349025111 | SCN3A | c.4142T>G (p.Val1381Gly) c.4193T>G (p.Val1398Gly) c.*2034T>G (n.*2034T>G) c.*927T>G (n.*927T>G) c.2402T>G (n.2402T>G) c.4046T>G (p.Val1349Gly) n.317T>G c.2303T>G (p.Val768Gly) c.4055T>G (p.Val1352Gly) | |
| 2 | g.165097298A>G | CA349025114 | SCN3A | c.4142T>C (p.Val1381Ala) c.4193T>C (p.Val1398Ala) c.*2034T>C (n.*2034T>C) c.*927T>C (n.*927T>C) c.2402T>C (n.2402T>C) c.4046T>C (p.Val1349Ala) n.317T>C c.2303T>C (p.Val768Ala) c.4055T>C (p.Val1352Ala) | |
| 2 | g.165097298A>T | CA349025116 | SCN3A | c.4142T>A (p.Val1381Glu) c.4193T>A (p.Val1398Glu) c.*2034T>A (n.*2034T>A) c.*927T>A (n.*927T>A) c.2402T>A (n.2402T>A) c.4046T>A (p.Val1349Glu) n.317T>A c.2303T>A (p.Val768Glu) c.4055T>A (p.Val1352Glu) | |
| 2 | g.165097299C>A | CA349025121 | SCN3A | c.4141G>T (p.Val1381Leu) c.4192G>T (p.Val1398Leu) c.*2033G>T (n.*2033G>T) c.*926G>T (n.*926G>T) c.2401G>T (n.2401G>T) c.4045G>T (p.Val1349Leu) n.316G>T c.2302G>T (p.Val768Leu) c.4054G>T (p.Val1352Leu) | |
| 2 | g.165097299C>G | CA349025128 | SCN3A | c.4141G>C (p.Val1381Leu) c.4192G>C (p.Val1398Leu) c.*2033G>C (n.*2033G>C) c.*926G>C (n.*926G>C) c.2401G>C (n.2401G>C) c.4045G>C (p.Val1349Leu) n.316G>C c.2302G>C (p.Val768Leu) c.4054G>C (p.Val1352Leu) | gnomAD v4 |
| 2 | g.165097299C>T | CA349025133 | SCN3A | c.4141G>A (p.Val1381Ile) c.4192G>A (p.Val1398Ile) c.*2033G>A (n.*2033G>A) c.*926G>A (n.*926G>A) c.2401G>A (n.2401G>A) c.4045G>A (p.Val1349Ile) n.316G>A c.2302G>A (p.Val768Ile) c.4054G>A (p.Val1352Ile) | |
| 2 | g.165097300T>A | CA349025138 | SCN3A | c.4140A>T (p.Lys1380Asn) c.4191A>T (p.Lys1397Asn) c.*2032A>T (n.*2032A>T) c.*925A>T (n.*925A>T) c.2400A>T (n.2400A>T) c.4044A>T (p.Lys1348Asn) n.315A>T c.2301A>T (p.Lys767Asn) c.4053A>T (p.Lys1351Asn) | COSMIC COSMIC |
| 2 | g.165097300T>C | CA429880813 | SCN3A | c.4140A>G (p.Lys1380=) c.4191A>G (p.Lys1397=) c.*2032A>G (n.*2032A>G) c.*925A>G (n.*925A>G) c.2400A>G (n.2400A>G) c.4044A>G (p.Lys1348=) n.315A>G c.2301A>G (p.Lys767=) c.4053A>G (p.Lys1351=) | |
| 2 | g.165097300T>G | CA59712660 | SCN3A | c.4140A>C (p.Lys1380Asn) c.4191A>C (p.Lys1397Asn) c.*2032A>C (n.*2032A>C) c.*925A>C (n.*925A>C) c.2400A>C (n.2400A>C) c.4044A>C (p.Lys1348Asn) n.315A>C c.2301A>C (p.Lys767Asn) c.4053A>C (p.Lys1351Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097300T= | CA1304438420 | SCN3A | c.4140A= (p.Lys1380=) c.4191A= (p.Lys1397=) c.*2032A= (n.*2032A=) c.*925A= (n.*925A=) c.2400A= (n.2400A=) c.4044A= (p.Lys1348=) n.315A= c.2301A= (p.Lys767=) c.4053A= (p.Lys1351=) | |
| 2 | g.165097301T>A | CA349025146 | SCN3A | c.4139A>T (p.Lys1380Ile) c.4190A>T (p.Lys1397Ile) c.*2031A>T (n.*2031A>T) c.*924A>T (n.*924A>T) c.2399A>T (n.2399A>T) c.4043A>T (p.Lys1348Ile) n.314A>T c.2300A>T (p.Lys767Ile) c.4052A>T (p.Lys1351Ile) | |
| 2 | g.165097301T>C | CA349025150 | SCN3A | c.4139A>G (p.Lys1380Arg) c.4190A>G (p.Lys1397Arg) c.*2031A>G (n.*2031A>G) c.*924A>G (n.*924A>G) c.2399A>G (n.2399A>G) c.4043A>G (p.Lys1348Arg) n.314A>G c.2300A>G (p.Lys767Arg) c.4052A>G (p.Lys1351Arg) | |
| 2 | g.165097301T>G | CA349025154 | SCN3A | c.4139A>C (p.Lys1380Thr) c.4190A>C (p.Lys1397Thr) c.*2031A>C (n.*2031A>C) c.*924A>C (n.*924A>C) c.2399A>C (n.2399A>C) c.4043A>C (p.Lys1348Thr) n.314A>C c.2300A>C (p.Lys767Thr) c.4052A>C (p.Lys1351Thr) | |
| 2 | g.165097302T>A | CA349025164 | SCN3A | c.4138A>T (p.Lys1380Ter) c.4189A>T (p.Lys1397Ter) c.*2030A>T (n.*2030A>T) c.*923A>T (n.*923A>T) c.2398A>T (n.2398A>T) c.4042A>T (p.Lys1348Ter) n.313A>T c.2299A>T (p.Lys767Ter) c.4051A>T (p.Lys1351Ter) | dbSNP |
| 2 | g.165097302T>C | CA349025168 | SCN3A | c.4138A>G (p.Lys1380Glu) c.4189A>G (p.Lys1397Glu) c.*2030A>G (n.*2030A>G) c.*923A>G (n.*923A>G) c.2398A>G (n.2398A>G) c.4042A>G (p.Lys1348Glu) n.313A>G c.2299A>G (p.Lys767Glu) c.4051A>G (p.Lys1351Glu) | |
| 2 | g.165097302T>G | CA349025171 | SCN3A | c.4138A>C (p.Lys1380Gln) c.4189A>C (p.Lys1397Gln) c.*2030A>C (n.*2030A>C) c.*923A>C (n.*923A>C) c.2398A>C (n.2398A>C) c.4042A>C (p.Lys1348Gln) n.313A>C c.2299A>C (p.Lys767Gln) c.4051A>C (p.Lys1351Gln) | |
| 2 | g.165097302T= | CA1304438421 | SCN3A | c.4138A= (p.Lys1380=) c.4189A= (p.Lys1397=) c.*2030A= (n.*2030A=) c.*923A= (n.*923A=) c.2398A= (n.2398A=) c.4042A= (p.Lys1348=) n.313A= c.2299A= (p.Lys767=) c.4051A= (p.Lys1351=) | |
| 2 | g.165097303C>A | CA429880815 | SCN3A | c.4137G>T (p.Val1379=) c.4188G>T (p.Val1396=) c.*2029G>T (n.*2029G>T) c.*922G>T (n.*922G>T) c.2397G>T (n.2397G>T) c.4041G>T (p.Val1347=) n.312G>T c.2298G>T (p.Val766=) c.4050G>T (p.Val1350=) | |
| 2 | g.165097303C= | CA1304438422 | SCN3A | c.4137G= (p.Val1379=) c.4188G= (p.Val1396=) c.*2029G= (n.*2029G=) c.*922G= (n.*922G=) c.2397G= (n.2397G=) c.4041G= (p.Val1347=) n.312G= c.2298G= (p.Val766=) c.4050G= (p.Val1350=) | |
| 2 | g.165097303C>G | CA1938634 | SCN3A | c.4137G>C (p.Val1379=) c.4188G>C (p.Val1396=) c.*2029G>C (n.*2029G>C) c.*922G>C (n.*922G>C) c.2397G>C (n.2397G>C) c.4041G>C (p.Val1347=) n.312G>C c.2298G>C (p.Val766=) c.4050G>C (p.Val1350=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097303C>T | CA429880814 | SCN3A | c.4137G>A (p.Val1379=) c.4188G>A (p.Val1396=) c.*2029G>A (n.*2029G>A) c.*922G>A (n.*922G>A) c.2397G>A (n.2397G>A) c.4041G>A (p.Val1347=) n.312G>A c.2298G>A (p.Val766=) c.4050G>A (p.Val1350=) | COSMIC COSMIC |
| 2 | g.165097304A= | CA1304438423 | SCN3A | c.4136T= (p.Val1379=) c.4187T= (p.Val1396=) c.*2028T= (n.*2028T=) c.*921T= (n.*921T=) c.2396T= (n.2396T=) c.4040T= (p.Val1347=) n.311T= c.2297T= (p.Val766=) c.4049T= (p.Val1350=) | |
| 2 | g.165097304A>C | CA349025179 | SCN3A | c.4136T>G (p.Val1379Gly) c.4187T>G (p.Val1396Gly) c.*2028T>G (n.*2028T>G) c.*921T>G (n.*921T>G) c.2396T>G (n.2396T>G) c.4040T>G (p.Val1347Gly) n.311T>G c.2297T>G (p.Val766Gly) c.4049T>G (p.Val1350Gly) | dbSNP gnomAD v4 |
| 2 | g.165097304A>G | CA59712684 | SCN3A | c.4136T>C (p.Val1379Ala) c.4187T>C (p.Val1396Ala) c.*2028T>C (n.*2028T>C) c.*921T>C (n.*921T>C) c.2396T>C (n.2396T>C) c.4040T>C (p.Val1347Ala) n.311T>C c.2297T>C (p.Val766Ala) c.4049T>C (p.Val1350Ala) | dbSNP |
| 2 | g.165097304A>T | CA349025182 | SCN3A | c.4136T>A (p.Val1379Glu) c.4187T>A (p.Val1396Glu) c.*2028T>A (n.*2028T>A) c.*921T>A (n.*921T>A) c.2396T>A (n.2396T>A) c.4040T>A (p.Val1347Glu) n.311T>A c.2297T>A (p.Val766Glu) c.4049T>A (p.Val1350Glu) | |
| 2 | g.165097305C>A | CA349025184 | SCN3A | c.4135G>T (p.Val1379Leu) c.4186G>T (p.Val1396Leu) c.*2027G>T (n.*2027G>T) c.*920G>T (n.*920G>T) c.2395G>T (n.2395G>T) c.4039G>T (p.Val1347Leu) n.310G>T c.2296G>T (p.Val766Leu) c.4048G>T (p.Val1350Leu) | |
| 2 | g.165097305C= | CA1304438424 | SCN3A | c.4135G= (p.Val1379=) c.4186G= (p.Val1396=) c.*2027G= (n.*2027G=) c.*920G= (n.*920G=) c.2395G= (n.2395G=) c.4039G= (p.Val1347=) n.310G= c.2296G= (p.Val766=) c.4048G= (p.Val1350=) | |
| 2 | g.165097305C>G | CA349025187 | SCN3A | c.4135G>C (p.Val1379Leu) c.4186G>C (p.Val1396Leu) c.*2027G>C (n.*2027G>C) c.*920G>C (n.*920G>C) c.2395G>C (n.2395G>C) c.4039G>C (p.Val1347Leu) n.310G>C c.2296G>C (p.Val766Leu) c.4048G>C (p.Val1350Leu) | |
| 2 | g.165097305C>T | CA1938635 | SCN3A | c.4135G>A (p.Val1379Met) c.4186G>A (p.Val1396Met) c.*2027G>A (n.*2027G>A) c.*920G>A (n.*920G>A) c.2395G>A (n.2395G>A) c.4039G>A (p.Val1347Met) n.310G>A c.2296G>A (p.Val766Met) c.4048G>A (p.Val1350Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097306G>A | CA1938636 | SCN3A | c.4134C>T (p.Asn1378=) c.4185C>T (p.Asn1395=) c.*2026C>T (n.*2026C>T) c.*919C>T (n.*919C>T) c.2394C>T (n.2394C>T) c.4038C>T (p.Asn1346=) n.309C>T c.2295C>T (p.Asn765=) c.4047C>T (p.Asn1349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097306G>C | CA349025201 | SCN3A | c.4134C>G (p.Asn1378Lys) c.4185C>G (p.Asn1395Lys) c.*2026C>G (n.*2026C>G) c.*919C>G (n.*919C>G) c.2394C>G (n.2394C>G) c.4038C>G (p.Asn1346Lys) n.309C>G c.2295C>G (p.Asn765Lys) c.4047C>G (p.Asn1349Lys) | |
| 2 | g.165097306G= | CA1304438425 | SCN3A | c.4134C= (p.Asn1378=) c.4185C= (p.Asn1395=) c.*2026C= (n.*2026C=) c.*919C= (n.*919C=) c.2394C= (n.2394C=) c.4038C= (p.Asn1346=) n.309C= c.2295C= (p.Asn765=) c.4047C= (p.Asn1349=) | |
| 2 | g.165097306G>T | CA349025205 | SCN3A | c.4134C>A (p.Asn1378Lys) c.4185C>A (p.Asn1395Lys) c.*2026C>A (n.*2026C>A) c.*919C>A (n.*919C>A) c.2394C>A (n.2394C>A) c.4038C>A (p.Asn1346Lys) n.309C>A c.2295C>A (p.Asn765Lys) c.4047C>A (p.Asn1349Lys) | |
| 2 | g.165097307T>A | CA349025206 | SCN3A | c.4133A>T (p.Asn1378Ile) c.4184A>T (p.Asn1395Ile) c.*2025A>T (n.*2025A>T) c.*918A>T (n.*918A>T) c.2393A>T (n.2393A>T) c.4037A>T (p.Asn1346Ile) n.308A>T c.2294A>T (p.Asn765Ile) c.4046A>T (p.Asn1349Ile) | |
| 2 | g.165097307T>C | CA349025207 | SCN3A | c.4133A>G (p.Asn1378Ser) c.4184A>G (p.Asn1395Ser) c.*2025A>G (n.*2025A>G) c.*918A>G (n.*918A>G) c.2393A>G (n.2393A>G) c.4037A>G (p.Asn1346Ser) n.308A>G c.2294A>G (p.Asn765Ser) c.4046A>G (p.Asn1349Ser) | |
| 2 | g.165097307T>G | CA349025208 | SCN3A | c.4133A>C (p.Asn1378Thr) c.4184A>C (p.Asn1395Thr) c.*2025A>C (n.*2025A>C) c.*918A>C (n.*918A>C) c.2393A>C (n.2393A>C) c.4037A>C (p.Asn1346Thr) n.308A>C c.2294A>C (p.Asn765Thr) c.4046A>C (p.Asn1349Thr) | |
| 2 | g.165097311del | CA429880816 | SCN3A | c.4133del (p.Asn1378ThrfsTer2) c.4184del (p.Asn1395ThrfsTer2) c.*2025del (n.*2025del) c.*918del (n.*918del) c.2393del (n.2393del) c.4037del (p.Asn1346ThrfsTer2) n.308del c.2294del (p.Asn765ThrfsTer2) c.4046del (p.Asn1349ThrfsTer2) | |
| 2 | g.165097308T>A | CA349025212 | SCN3A | c.4132A>T (p.Asn1378Tyr) c.4183A>T (p.Asn1395Tyr) c.*2024A>T (n.*2024A>T) c.*917A>T (n.*917A>T) c.2392A>T (n.2392A>T) c.4036A>T (p.Asn1346Tyr) n.307A>T c.2293A>T (p.Asn765Tyr) c.4045A>T (p.Asn1349Tyr) | |
| 2 | g.165097308T>C | CA349025225 | SCN3A | c.4132A>G (p.Asn1378Asp) c.4183A>G (p.Asn1395Asp) c.*2024A>G (n.*2024A>G) c.*917A>G (n.*917A>G) c.2392A>G (n.2392A>G) c.4036A>G (p.Asn1346Asp) n.307A>G c.2293A>G (p.Asn765Asp) c.4045A>G (p.Asn1349Asp) | |
| 2 | g.165097308T>G | CA349025224 | SCN3A | c.4132A>C (p.Asn1378His) c.4183A>C (p.Asn1395His) c.*2024A>C (n.*2024A>C) c.*917A>C (n.*917A>C) c.2392A>C (n.2392A>C) c.4036A>C (p.Asn1346His) n.307A>C c.2293A>C (p.Asn765His) c.4045A>C (p.Asn1349His) | |
| 2 | g.165097309T>A | CA349025227 | SCN3A | c.4131A>T (p.Lys1377Asn) c.4182A>T (p.Lys1394Asn) c.*2023A>T (n.*2023A>T) c.*916A>T (n.*916A>T) c.2391A>T (n.2391A>T) c.4035A>T (p.Lys1345Asn) n.306A>T c.2292A>T (p.Lys764Asn) c.4044A>T (p.Lys1348Asn) | |
| 2 | g.165097309T>C | CA429880817 | SCN3A | c.4131A>G (p.Lys1377=) c.4182A>G (p.Lys1394=) c.*2023A>G (n.*2023A>G) c.*916A>G (n.*916A>G) c.2391A>G (n.2391A>G) c.4035A>G (p.Lys1345=) n.306A>G c.2292A>G (p.Lys764=) c.4044A>G (p.Lys1348=) | gnomAD v4 |
| 2 | g.165097309T>G | CA349025228 | SCN3A | c.4131A>C (p.Lys1377Asn) c.4182A>C (p.Lys1394Asn) c.*2023A>C (n.*2023A>C) c.*916A>C (n.*916A>C) c.2391A>C (n.2391A>C) c.4035A>C (p.Lys1345Asn) n.306A>C c.2292A>C (p.Lys764Asn) c.4044A>C (p.Lys1348Asn) | |
| 2 | g.165097310T>A | CA349025230 | SCN3A | c.4130A>T (p.Lys1377Ile) c.4181A>T (p.Lys1394Ile) c.*2022A>T (n.*2022A>T) c.*915A>T (n.*915A>T) c.2390A>T (n.2390A>T) c.4034A>T (p.Lys1345Ile) n.305A>T c.2291A>T (p.Lys764Ile) c.4043A>T (p.Lys1348Ile) | |
| 2 | g.165097310T>C | CA349025235 | SCN3A | c.4130A>G (p.Lys1377Arg) c.4181A>G (p.Lys1394Arg) c.*2022A>G (n.*2022A>G) c.*915A>G (n.*915A>G) c.2390A>G (n.2390A>G) c.4034A>G (p.Lys1345Arg) n.305A>G c.2291A>G (p.Lys764Arg) c.4043A>G (p.Lys1348Arg) | |
| 2 | g.165097310T>G | CA349025234 | SCN3A | c.4130A>C (p.Lys1377Thr) c.4181A>C (p.Lys1394Thr) c.*2022A>C (n.*2022A>C) c.*915A>C (n.*915A>C) c.2390A>C (n.2390A>C) c.4034A>C (p.Lys1345Thr) n.305A>C c.2291A>C (p.Lys764Thr) c.4043A>C (p.Lys1348Thr) | |
| 2 | g.165097311T>A | CA349025245 | SCN3A | c.4129A>T (p.Lys1377Ter) c.4180A>T (p.Lys1394Ter) c.*2021A>T (n.*2021A>T) c.*914A>T (n.*914A>T) c.2389A>T (n.2389A>T) c.4033A>T (p.Lys1345Ter) n.304A>T c.2290A>T (p.Lys764Ter) c.4042A>T (p.Lys1348Ter) | dbSNP |
| 2 | g.165097311T>C | CA349025248 | SCN3A | c.4129A>G (p.Lys1377Glu) c.4180A>G (p.Lys1394Glu) c.*2021A>G (n.*2021A>G) c.*914A>G (n.*914A>G) c.2389A>G (n.2389A>G) c.4033A>G (p.Lys1345Glu) n.304A>G c.2290A>G (p.Lys764Glu) c.4042A>G (p.Lys1348Glu) | |
| 2 | g.165097311T>G | CA349025252 | SCN3A | c.4129A>C (p.Lys1377Gln) c.4180A>C (p.Lys1394Gln) c.*2021A>C (n.*2021A>C) c.*914A>C (n.*914A>C) c.2389A>C (n.2389A>C) c.4033A>C (p.Lys1345Gln) n.304A>C c.2290A>C (p.Lys764Gln) c.4042A>C (p.Lys1348Gln) | |
| 2 | g.165097311T= | CA1304438426 | SCN3A | c.4129A= (p.Lys1377=) c.4180A= (p.Lys1394=) c.*2021A= (n.*2021A=) c.*914A= (n.*914A=) c.2389A= (n.2389A=) c.4033A= (p.Lys1345=) n.304A= c.2290A= (p.Lys764=) c.4042A= (p.Lys1348=) | |
| 2 | g.165097312C>A | CA349025255 | SCN3A | c.4128G>T (p.Trp1376Cys) c.4179G>T (p.Trp1393Cys) c.*2020G>T (n.*2020G>T) c.*913G>T (n.*913G>T) c.2388G>T (n.2388G>T) c.4032G>T (p.Trp1344Cys) n.303G>T c.2289G>T (p.Trp763Cys) c.4041G>T (p.Trp1347Cys) | |
| 2 | g.165097312C= | CA1304438427 | SCN3A | c.4128G= (p.Trp1376=) c.4179G= (p.Trp1393=) c.*2020G= (n.*2020G=) c.*913G= (n.*913G=) c.2388G= (n.2388G=) c.4032G= (p.Trp1344=) n.303G= c.2289G= (p.Trp763=) c.4041G= (p.Trp1347=) | |
| 2 | g.165097312C>G | CA349025257 | SCN3A | c.4128G>C (p.Trp1376Cys) c.4179G>C (p.Trp1393Cys) c.*2020G>C (n.*2020G>C) c.*913G>C (n.*913G>C) c.2388G>C (n.2388G>C) c.4032G>C (p.Trp1344Cys) n.303G>C c.2289G>C (p.Trp763Cys) c.4041G>C (p.Trp1347Cys) | |
| 2 | g.165097312C>T | CA349025259 | SCN3A | c.4128G>A (p.Trp1376Ter) c.4179G>A (p.Trp1393Ter) c.*2020G>A (n.*2020G>A) c.*913G>A (n.*913G>A) c.2388G>A (n.2388G>A) c.4032G>A (p.Trp1344Ter) n.303G>A c.2289G>A (p.Trp763Ter) c.4041G>A (p.Trp1347Ter) | dbSNP |
| 2 | g.165097313C>A | CA349025270 | SCN3A | c.4127G>T (p.Trp1376Leu) c.4178G>T (p.Trp1393Leu) c.*2019G>T (n.*2019G>T) c.*912G>T (n.*912G>T) c.2387G>T (n.2387G>T) c.4031G>T (p.Trp1344Leu) n.302G>T c.2288G>T (p.Trp763Leu) c.4040G>T (p.Trp1347Leu) | |
| 2 | g.165097313C>G | CA349025272 | SCN3A | c.4127G>C (p.Trp1376Ser) c.4178G>C (p.Trp1393Ser) c.*2019G>C (n.*2019G>C) c.*912G>C (n.*912G>C) c.2387G>C (n.2387G>C) c.4031G>C (p.Trp1344Ser) n.302G>C c.2288G>C (p.Trp763Ser) c.4040G>C (p.Trp1347Ser) | |
| 2 | g.165097313C>T | CA349025273 | SCN3A | c.4127G>A (p.Trp1376Ter) c.4178G>A (p.Trp1393Ter) c.*2019G>A (n.*2019G>A) c.*912G>A (n.*912G>A) c.2387G>A (n.2387G>A) c.4031G>A (p.Trp1344Ter) n.302G>A c.2288G>A (p.Trp763Ter) c.4040G>A (p.Trp1347Ter) | ClinVar |
| 2 | g.165097314A>C | CA349025279 | SCN3A | c.4126T>G (p.Trp1376Gly) c.4177T>G (p.Trp1393Gly) c.*2018T>G (n.*2018T>G) c.*911T>G (n.*911T>G) c.2386T>G (n.2386T>G) c.4030T>G (p.Trp1344Gly) n.301T>G c.2287T>G (p.Trp763Gly) c.4039T>G (p.Trp1347Gly) | |
| 2 | g.165097314A>G | CA349025281 | SCN3A | c.4126T>C (p.Trp1376Arg) c.4177T>C (p.Trp1393Arg) c.*2018T>C (n.*2018T>C) c.*911T>C (n.*911T>C) c.2386T>C (n.2386T>C) c.4030T>C (p.Trp1344Arg) n.301T>C c.2287T>C (p.Trp763Arg) c.4039T>C (p.Trp1347Arg) | |
| 2 | g.165097314A>T | CA349025284 | SCN3A | c.4126T>A (p.Trp1376Arg) c.4177T>A (p.Trp1393Arg) c.*2018T>A (n.*2018T>A) c.*911T>A (n.*911T>A) c.2386T>A (n.2386T>A) c.4030T>A (p.Trp1344Arg) n.301T>A c.2287T>A (p.Trp763Arg) c.4039T>A (p.Trp1347Arg) | |
| 2 | g.165097315C>A | CA429880818 | SCN3A | c.4125G>T (p.Arg1375=) c.4176G>T (p.Arg1392=) c.*2017G>T (n.*2017G>T) c.*910G>T (n.*910G>T) c.2385G>T (n.2385G>T) c.4029G>T (p.Arg1343=) n.300G>T c.2286G>T (p.Arg762=) c.4038G>T (p.Arg1346=) | |
| 2 | g.165097315C>G | CA429880819 | SCN3A | c.4125G>C (p.Arg1375=) c.4176G>C (p.Arg1392=) c.*2017G>C (n.*2017G>C) c.*910G>C (n.*910G>C) c.2385G>C (n.2385G>C) c.4029G>C (p.Arg1343=) n.300G>C c.2286G>C (p.Arg762=) c.4038G>C (p.Arg1346=) | |
| 2 | g.165097315C>T | CA429880820 | SCN3A | c.4125G>A (p.Arg1375=) c.4176G>A (p.Arg1392=) c.*2017G>A (n.*2017G>A) c.*910G>A (n.*910G>A) c.2385G>A (n.2385G>A) c.4029G>A (p.Arg1343=) n.300G>A c.2286G>A (p.Arg762=) c.4038G>A (p.Arg1346=) | COSMIC COSMIC |
| 2 | g.165097316C>A | CA349025287 | SCN3A | c.4124G>T (p.Arg1375Leu) c.4175G>T (p.Arg1392Leu) c.*2016G>T (n.*2016G>T) c.*909G>T (n.*909G>T) c.2384G>T (n.2384G>T) c.4028G>T (p.Arg1343Leu) n.299G>T c.2285G>T (p.Arg762Leu) c.4037G>T (p.Arg1346Leu) | |
| 2 | g.165097316C= | CA1304438428 | SCN3A | c.4124G= (p.Arg1375=) c.4175G= (p.Arg1392=) c.*2016G= (n.*2016G=) c.*909G= (n.*909G=) c.2384G= (n.2384G=) c.4028G= (p.Arg1343=) n.299G= c.2285G= (p.Arg762=) c.4037G= (p.Arg1346=) | |
| 2 | g.165097316C>G | CA349025292 | SCN3A | c.4124G>C (p.Arg1375Pro) c.4175G>C (p.Arg1392Pro) c.*2016G>C (n.*2016G>C) c.*909G>C (n.*909G>C) c.2384G>C (n.2384G>C) c.4028G>C (p.Arg1343Pro) n.299G>C c.2285G>C (p.Arg762Pro) c.4037G>C (p.Arg1346Pro) | |
| 2 | g.165097316C>T | CA1938637 | SCN3A | c.4124G>A (p.Arg1375Gln) c.4175G>A (p.Arg1392Gln) c.*2016G>A (n.*2016G>A) c.*909G>A (n.*909G>A) c.2384G>A (n.2384G>A) c.4028G>A (p.Arg1343Gln) n.299G>A c.2285G>A (p.Arg762Gln) c.4037G>A (p.Arg1346Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097317G>A | CA349025295 | SCN3A | c.4123C>T (p.Arg1375Trp) c.4174C>T (p.Arg1392Trp) c.*2015C>T (n.*2015C>T) c.*908C>T (n.*908C>T) c.2383C>T (n.2383C>T) c.4027C>T (p.Arg1343Trp) n.298C>T c.2284C>T (p.Arg762Trp) c.4036C>T (p.Arg1346Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.165097317G>C | CA1938638 | SCN3A | c.4123C>G (p.Arg1375Gly) c.4174C>G (p.Arg1392Gly) c.*2015C>G (n.*2015C>G) c.*908C>G (n.*908C>G) c.2383C>G (n.2383C>G) c.4027C>G (p.Arg1343Gly) n.298C>G c.2284C>G (p.Arg762Gly) c.4036C>G (p.Arg1346Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097317G= | CA1304438429 | SCN3A | c.4123C= (p.Arg1375=) c.4174C= (p.Arg1392=) c.*2015C= (n.*2015C=) c.*908C= (n.*908C=) c.2383C= (n.2383C=) c.4027C= (p.Arg1343=) n.298C= c.2284C= (p.Arg762=) c.4036C= (p.Arg1346=) | |
| 2 | g.165097317G>T | CA429880821 | SCN3A | c.4123C>A (p.Arg1375=) c.4174C>A (p.Arg1392=) c.*2015C>A (n.*2015C>A) c.*908C>A (n.*908C>A) c.2383C>A (n.2383C>A) c.4027C>A (p.Arg1343=) n.298C>A c.2284C>A (p.Arg762=) c.4036C>A (p.Arg1346=) | |
| 2 | g.165097318A>C | CA429880822 | SCN3A | c.4122T>G (p.Ala1374=) c.4173T>G (p.Ala1391=) c.*2014T>G (n.*2014T>G) c.*907T>G (n.*907T>G) c.2382T>G (n.2382T>G) c.4026T>G (p.Ala1342=) n.297T>G c.2283T>G (p.Ala761=) c.4035T>G (p.Ala1345=) | |
| 2 | g.165097318A>G | CA429880823 | SCN3A | c.4122T>C (p.Ala1374=) c.4173T>C (p.Ala1391=) c.*2014T>C (n.*2014T>C) c.*907T>C (n.*907T>C) c.2382T>C (n.2382T>C) c.4026T>C (p.Ala1342=) n.297T>C c.2283T>C (p.Ala761=) c.4035T>C (p.Ala1345=) | |
| 2 | g.165097318A>T | CA429880824 | SCN3A | c.4122T>A (p.Ala1374=) c.4173T>A (p.Ala1391=) c.*2014T>A (n.*2014T>A) c.*907T>A (n.*907T>A) c.2382T>A (n.2382T>A) c.4026T>A (p.Ala1342=) n.297T>A c.2283T>A (p.Ala761=) c.4035T>A (p.Ala1345=) | |
| 2 | g.165097319G>A | CA349025298 | SCN3A | c.4121C>T (p.Ala1374Val) c.4172C>T (p.Ala1391Val) c.*2013C>T (n.*2013C>T) c.*906C>T (n.*906C>T) c.2381C>T (n.2381C>T) c.4025C>T (p.Ala1342Val) n.296C>T c.2282C>T (p.Ala761Val) c.4034C>T (p.Ala1345Val) | |
| 2 | g.165097319G>C | CA349025299 | SCN3A | c.4121C>G (p.Ala1374Gly) c.4172C>G (p.Ala1391Gly) c.*2013C>G (n.*2013C>G) c.*906C>G (n.*906C>G) c.2381C>G (n.2381C>G) c.4025C>G (p.Ala1342Gly) n.296C>G c.2282C>G (p.Ala761Gly) c.4034C>G (p.Ala1345Gly) | |
| 2 | g.165097319G>T | CA349025300 | SCN3A | c.4121C>A (p.Ala1374Asp) c.4172C>A (p.Ala1391Asp) c.*2013C>A (n.*2013C>A) c.*906C>A (n.*906C>A) c.2381C>A (n.2381C>A) c.4025C>A (p.Ala1342Asp) n.296C>A c.2282C>A (p.Ala761Asp) c.4034C>A (p.Ala1345Asp) | |
| 2 | g.165097320C>A | CA349025304 | SCN3A | c.4120G>T (p.Ala1374Ser) c.4171G>T (p.Ala1391Ser) c.*2012G>T (n.*2012G>T) c.*905G>T (n.*905G>T) c.2380G>T (n.2380G>T) c.4024G>T (p.Ala1342Ser) n.295G>T c.2281G>T (p.Ala761Ser) c.4033G>T (p.Ala1345Ser) | |
| 2 | g.165097320C>G | CA349025307 | SCN3A | c.4120G>C (p.Ala1374Pro) c.4171G>C (p.Ala1391Pro) c.*2012G>C (n.*2012G>C) c.*905G>C (n.*905G>C) c.2380G>C (n.2380G>C) c.4024G>C (p.Ala1342Pro) n.295G>C c.2281G>C (p.Ala761Pro) c.4033G>C (p.Ala1345Pro) | |
| 2 | g.165097320C>T | CA349025310 | SCN3A | c.4120G>A (p.Ala1374Thr) c.4171G>A (p.Ala1391Thr) c.*2012G>A (n.*2012G>A) c.*905G>A (n.*905G>A) c.2380G>A (n.2380G>A) c.4024G>A (p.Ala1342Thr) n.295G>A c.2281G>A (p.Ala761Thr) c.4033G>A (p.Ala1345Thr) | |
| 2 | g.165097321T>A | CA349025311 | SCN3A | c.4119A>T (p.Gln1373His) c.4170A>T (p.Gln1390His) c.*2011A>T (n.*2011A>T) c.*904A>T (n.*904A>T) c.2379A>T (n.2379A>T) c.4023A>T (p.Gln1341His) n.294A>T c.2280A>T (p.Gln760His) c.4032A>T (p.Gln1344His) | |
| 2 | g.165097321T>C | CA429880825 | SCN3A | c.4119A>G (p.Gln1373=) c.4170A>G (p.Gln1390=) c.*2011A>G (n.*2011A>G) c.*904A>G (n.*904A>G) c.2379A>G (n.2379A>G) c.4023A>G (p.Gln1341=) n.294A>G c.2280A>G (p.Gln760=) c.4032A>G (p.Gln1344=) | |
| 2 | g.165097321T>G | CA349025312 | SCN3A | c.4119A>C (p.Gln1373His) c.4170A>C (p.Gln1390His) c.*2011A>C (n.*2011A>C) c.*904A>C (n.*904A>C) c.2379A>C (n.2379A>C) c.4023A>C (p.Gln1341His) n.294A>C c.2280A>C (p.Gln760His) c.4032A>C (p.Gln1344His) | gnomAD v4 COSMIC COSMIC |
| 2 | g.165097322T>A | CA349025316 | SCN3A | c.4118A>T (p.Gln1373Leu) c.4169A>T (p.Gln1390Leu) c.*2010A>T (n.*2010A>T) c.*903A>T (n.*903A>T) c.2378A>T (n.2378A>T) c.4022A>T (p.Gln1341Leu) n.293A>T c.2279A>T (p.Gln760Leu) c.4031A>T (p.Gln1344Leu) | |
| 2 | g.165097322T>C | CA349025319 | SCN3A | c.4118A>G (p.Gln1373Arg) c.4169A>G (p.Gln1390Arg) c.*2010A>G (n.*2010A>G) c.*903A>G (n.*903A>G) c.2378A>G (n.2378A>G) c.4022A>G (p.Gln1341Arg) n.293A>G c.2279A>G (p.Gln760Arg) c.4031A>G (p.Gln1344Arg) | |
| 2 | g.165097322T>G | CA349025314 | SCN3A | c.4118A>C (p.Gln1373Pro) c.4169A>C (p.Gln1390Pro) c.*2010A>C (n.*2010A>C) c.*903A>C (n.*903A>C) c.2378A>C (n.2378A>C) c.4022A>C (p.Gln1341Pro) n.293A>C c.2279A>C (p.Gln760Pro) c.4031A>C (p.Gln1344Pro) | |
| 2 | g.165097323G>A | CA349025321 | SCN3A | c.4117C>T (p.Gln1373Ter) c.4168C>T (p.Gln1390Ter) c.*2009C>T (n.*2009C>T) c.*902C>T (n.*902C>T) c.2377C>T (n.2377C>T) c.4021C>T (p.Gln1341Ter) n.292C>T c.2278C>T (p.Gln760Ter) c.4030C>T (p.Gln1344Ter) | |
| 2 | g.165097323G>C | CA349025325 | SCN3A | c.4117C>G (p.Gln1373Glu) c.4168C>G (p.Gln1390Glu) c.*2009C>G (n.*2009C>G) c.*902C>G (n.*902C>G) c.2377C>G (n.2377C>G) c.4021C>G (p.Gln1341Glu) n.292C>G c.2278C>G (p.Gln760Glu) c.4030C>G (p.Gln1344Glu) | ClinVar dbSNP |
| 2 | g.165097323G= | CA1304438430 | SCN3A | c.4117C= (p.Gln1373=) c.4168C= (p.Gln1390=) c.*2009C= (n.*2009C=) c.*902C= (n.*902C=) c.2377C= (n.2377C=) c.4021C= (p.Gln1341=) n.292C= c.2278C= (p.Gln760=) c.4030C= (p.Gln1344=) | |
| 2 | g.165097323G>T | CA349025328 | SCN3A | c.4117C>A (p.Gln1373Lys) c.4168C>A (p.Gln1390Lys) c.*2009C>A (n.*2009C>A) c.*902C>A (n.*902C>A) c.2377C>A (n.2377C>A) c.4021C>A (p.Gln1341Lys) n.292C>A c.2278C>A (p.Gln760Lys) c.4030C>A (p.Gln1344Lys) | gnomAD v4 |
| 2 | g.165097324C>A | CA349025330 | SCN3A | c.4116G>T (p.Lys1372Asn) c.4167G>T (p.Lys1389Asn) c.*2008G>T (n.*2008G>T) c.*901G>T (n.*901G>T) c.2376G>T (n.2376G>T) c.4020G>T (p.Lys1340Asn) n.291G>T c.2277G>T (p.Lys759Asn) c.4029G>T (p.Lys1343Asn) | |
| 2 | g.165097324C>G | CA349025334 | SCN3A | c.4116G>C (p.Lys1372Asn) c.4167G>C (p.Lys1389Asn) c.*2008G>C (n.*2008G>C) c.*901G>C (n.*901G>C) c.2376G>C (n.2376G>C) c.4020G>C (p.Lys1340Asn) n.291G>C c.2277G>C (p.Lys759Asn) c.4029G>C (p.Lys1343Asn) | |
| 2 | g.165097324C>T | CA429880826 | SCN3A | c.4116G>A (p.Lys1372=) c.4167G>A (p.Lys1389=) c.*2008G>A (n.*2008G>A) c.*901G>A (n.*901G>A) c.2376G>A (n.2376G>A) c.4020G>A (p.Lys1340=) n.291G>A c.2277G>A (p.Lys759=) c.4029G>A (p.Lys1343=) | |
| 2 | g.165097325T>A | CA349025347 | SCN3A | c.4115A>T (p.Lys1372Met) c.4166A>T (p.Lys1389Met) c.*2007A>T (n.*2007A>T) c.*900A>T (n.*900A>T) c.2375A>T (n.2375A>T) c.4019A>T (p.Lys1340Met) n.290A>T c.2276A>T (p.Lys759Met) c.4028A>T (p.Lys1343Met) | |
| 2 | g.165097325T>C | CA349025343 | SCN3A | c.4115A>G (p.Lys1372Arg) c.4166A>G (p.Lys1389Arg) c.*2007A>G (n.*2007A>G) c.*900A>G (n.*900A>G) c.2375A>G (n.2375A>G) c.4019A>G (p.Lys1340Arg) n.290A>G c.2276A>G (p.Lys759Arg) c.4028A>G (p.Lys1343Arg) | |
| 2 | g.165097325T>G | CA349025340 | SCN3A | c.4115A>C (p.Lys1372Thr) c.4166A>C (p.Lys1389Thr) c.*2007A>C (n.*2007A>C) c.*900A>C (n.*900A>C) c.2375A>C (n.2375A>C) c.4019A>C (p.Lys1340Thr) n.290A>C c.2276A>C (p.Lys759Thr) c.4028A>C (p.Lys1343Thr) | gnomAD v4 |
| 2 | g.165097326T>A | CA349025350 | SCN3A | c.4114A>T (p.Lys1372Ter) c.4165A>T (p.Lys1389Ter) c.*2006A>T (n.*2006A>T) c.*899A>T (n.*899A>T) c.2374A>T (n.2374A>T) c.4018A>T (p.Lys1340Ter) n.289A>T c.2275A>T (p.Lys759Ter) c.4027A>T (p.Lys1343Ter) | dbSNP |
| 2 | g.165097326T>C | CA349025357 | SCN3A | c.4114A>G (p.Lys1372Glu) c.4165A>G (p.Lys1389Glu) c.*2006A>G (n.*2006A>G) c.*899A>G (n.*899A>G) c.2374A>G (n.2374A>G) c.4018A>G (p.Lys1340Glu) n.289A>G c.2275A>G (p.Lys759Glu) c.4027A>G (p.Lys1343Glu) | |
| 2 | g.165097326T>G | CA349025360 | SCN3A | c.4114A>C (p.Lys1372Gln) c.4165A>C (p.Lys1389Gln) c.*2006A>C (n.*2006A>C) c.*899A>C (n.*899A>C) c.2374A>C (n.2374A>C) c.4018A>C (p.Lys1340Gln) n.289A>C c.2275A>C (p.Lys759Gln) c.4027A>C (p.Lys1343Gln) | gnomAD v4 |
| 2 | g.165097326T= | CA1304438431 | SCN3A | c.4114A= (p.Lys1372=) c.4165A= (p.Lys1389=) c.*2006A= (n.*2006A=) c.*899A= (n.*899A=) c.2374A= (n.2374A=) c.4018A= (p.Lys1340=) n.289A= c.2275A= (p.Lys759=) c.4027A= (p.Lys1343=) | |
| 2 | g.165097327G>A | CA429880827 | SCN3A | c.4113C>T (p.Gly1371=) c.4164C>T (p.Gly1388=) c.*2005C>T (n.*2005C>T) c.*898C>T (n.*898C>T) c.2373C>T (n.2373C>T) c.4017C>T (p.Gly1339=) n.288C>T c.2274C>T (p.Gly758=) c.4026C>T (p.Gly1342=) | |
| 2 | g.165097327G>C | CA429880829 | SCN3A | c.4113C>G (p.Gly1371=) c.4164C>G (p.Gly1388=) c.*2005C>G (n.*2005C>G) c.*898C>G (n.*898C>G) c.2373C>G (n.2373C>G) c.4017C>G (p.Gly1339=) n.288C>G c.2274C>G (p.Gly758=) c.4026C>G (p.Gly1342=) | |
| 2 | g.165097327G>T | CA429880828 | SCN3A | c.4113C>A (p.Gly1371=) c.4164C>A (p.Gly1388=) c.*2005C>A (n.*2005C>A) c.*898C>A (n.*898C>A) c.2373C>A (n.2373C>A) c.4017C>A (p.Gly1339=) n.288C>A c.2274C>A (p.Gly758=) c.4026C>A (p.Gly1342=) | gnomAD v4 |
| 2 | g.165097328C>A | CA349025363 | SCN3A | c.4112G>T (p.Gly1371Val) c.4163G>T (p.Gly1388Val) c.*2004G>T (n.*2004G>T) c.*897G>T (n.*897G>T) c.2372G>T (n.2372G>T) c.4016G>T (p.Gly1339Val) n.287G>T c.2273G>T (p.Gly758Val) c.4025G>T (p.Gly1342Val) | |
| 2 | g.165097328C= | CA1304438432 | SCN3A | c.4112G= (p.Gly1371=) c.4163G= (p.Gly1388=) c.*2004G= (n.*2004G=) c.*897G= (n.*897G=) c.2372G= (n.2372G=) c.4016G= (p.Gly1339=) n.287G= c.2273G= (p.Gly758=) c.4025G= (p.Gly1342=) | |
| 2 | g.165097328C>G | CA349025370 | SCN3A | c.4112G>C (p.Gly1371Ala) c.4163G>C (p.Gly1388Ala) c.*2004G>C (n.*2004G>C) c.*897G>C (n.*897G>C) c.2372G>C (n.2372G>C) c.4016G>C (p.Gly1339Ala) n.287G>C c.2273G>C (p.Gly758Ala) c.4025G>C (p.Gly1342Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165097328C>T | CA349025371 | SCN3A | c.4112G>A (p.Gly1371Asp) c.4163G>A (p.Gly1388Asp) c.*2004G>A (n.*2004G>A) c.*897G>A (n.*897G>A) c.2372G>A (n.2372G>A) c.4016G>A (p.Gly1339Asp) n.287G>A c.2273G>A (p.Gly758Asp) c.4025G>A (p.Gly1342Asp) | |
| 2 | g.165097329C>A | CA349025373 | SCN3A | c.4111G>T (p.Gly1371Cys) c.4162G>T (p.Gly1388Cys) c.*2003G>T (n.*2003G>T) c.*896G>T (n.*896G>T) c.2371G>T (n.2371G>T) c.4015G>T (p.Gly1339Cys) n.286G>T c.2272G>T (p.Gly758Cys) c.4024G>T (p.Gly1342Cys) | |
| 2 | g.165097329C>G | CA349025376 | SCN3A | c.4111G>C (p.Gly1371Arg) c.4162G>C (p.Gly1388Arg) c.*2003G>C (n.*2003G>C) c.*896G>C (n.*896G>C) c.2371G>C (n.2371G>C) c.4015G>C (p.Gly1339Arg) n.286G>C c.2272G>C (p.Gly758Arg) c.4024G>C (p.Gly1342Arg) | |
| 2 | g.165097329C>T | CA349025374 | SCN3A | c.4111G>A (p.Gly1371Ser) c.4162G>A (p.Gly1388Ser) c.*2003G>A (n.*2003G>A) c.*896G>A (n.*896G>A) c.2371G>A (n.2371G>A) c.4015G>A (p.Gly1339Ser) n.286G>A c.2272G>A (p.Gly758Ser) c.4024G>A (p.Gly1342Ser) | |
| 2 | g.165097330A>C | CA429880830 | SCN3A | c.4110T>G (p.Leu1370=) c.4161T>G (p.Leu1387=) c.*2002T>G (n.*2002T>G) c.*895T>G (n.*895T>G) c.2370T>G (n.2370T>G) c.4014T>G (p.Leu1338=) n.285T>G c.2271T>G (p.Leu757=) c.4023T>G (p.Leu1341=) | |
| 2 | g.165097330A>G | CA429880831 | SCN3A | c.4110T>C (p.Leu1370=) c.4161T>C (p.Leu1387=) c.*2002T>C (n.*2002T>C) c.*895T>C (n.*895T>C) c.2370T>C (n.2370T>C) c.4014T>C (p.Leu1338=) n.285T>C c.2271T>C (p.Leu757=) c.4023T>C (p.Leu1341=) | gnomAD v4 |
| 2 | g.165097330A>T | CA429880832 | SCN3A | c.4110T>A (p.Leu1370=) c.4161T>A (p.Leu1387=) c.*2002T>A (n.*2002T>A) c.*895T>A (n.*895T>A) c.2370T>A (n.2370T>A) c.4014T>A (p.Leu1338=) n.285T>A c.2271T>A (p.Leu757=) c.4023T>A (p.Leu1341=) | |
| 2 | g.165097331A>C | CA349025382 | SCN3A | c.4109T>G (p.Leu1370Arg) c.4160T>G (p.Leu1387Arg) c.*2001T>G (n.*2001T>G) c.*894T>G (n.*894T>G) c.2369T>G (n.2369T>G) c.4013T>G (p.Leu1338Arg) n.284T>G c.2270T>G (p.Leu757Arg) c.4022T>G (p.Leu1341Arg) | |
| 2 | g.165097331A>G | CA349025384 | SCN3A | c.4109T>C (p.Leu1370Pro) c.4160T>C (p.Leu1387Pro) c.*2001T>C (n.*2001T>C) c.*894T>C (n.*894T>C) c.2369T>C (n.2369T>C) c.4013T>C (p.Leu1338Pro) n.284T>C c.2270T>C (p.Leu757Pro) c.4022T>C (p.Leu1341Pro) | |
| 2 | g.165097331A>T | CA349025387 | SCN3A | c.4109T>A (p.Leu1370His) c.4160T>A (p.Leu1387His) c.*2001T>A (n.*2001T>A) c.*894T>A (n.*894T>A) c.2369T>A (n.2369T>A) c.4013T>A (p.Leu1338His) n.284T>A c.2270T>A (p.Leu757His) c.4022T>A (p.Leu1341His) | |
| 2 | g.165097332G>A | CA349025391 | SCN3A | c.4108C>T (p.Leu1370Phe) c.4159C>T (p.Leu1387Phe) c.*2000C>T (n.*2000C>T) c.*893C>T (n.*893C>T) c.2368C>T (n.2368C>T) c.4012C>T (p.Leu1338Phe) n.283C>T c.2269C>T (p.Leu757Phe) c.4021C>T (p.Leu1341Phe) | dbSNP |
| 2 | g.165097332G>C | CA349025393 | SCN3A | c.4108C>G (p.Leu1370Val) c.4159C>G (p.Leu1387Val) c.*2000C>G (n.*2000C>G) c.*893C>G (n.*893C>G) c.2368C>G (n.2368C>G) c.4012C>G (p.Leu1338Val) n.283C>G c.2269C>G (p.Leu757Val) c.4021C>G (p.Leu1341Val) | |
| 2 | g.165097332G= | CA1304438433 | SCN3A | c.4108C= (p.Leu1370=) c.4159C= (p.Leu1387=) c.*2000C= (n.*2000C=) c.*893C= (n.*893C=) c.2368C= (n.2368C=) c.4012C= (p.Leu1338=) n.283C= c.2269C= (p.Leu757=) c.4021C= (p.Leu1341=) | |
| 2 | g.165097332G>T | CA349025394 | SCN3A | c.4108C>A (p.Leu1370Ile) c.4159C>A (p.Leu1387Ile) c.*2000C>A (n.*2000C>A) c.*893C>A (n.*893C>A) c.2368C>A (n.2368C>A) c.4012C>A (p.Leu1338Ile) n.283C>A c.2269C>A (p.Leu757Ile) c.4021C>A (p.Leu1341Ile) | |
| 2 | g.165097333A>C | CA429880833 | SCN3A | c.4107T>G (p.Ala1369=) c.4158T>G (p.Ala1386=) c.*1999T>G (n.*1999T>G) c.*892T>G (n.*892T>G) c.2367T>G (n.2367T>G) c.4011T>G (p.Ala1337=) n.282T>G c.2268T>G (p.Ala756=) c.4020T>G (p.Ala1340=) | |
| 2 | g.165097333A>G | CA429880834 | SCN3A | c.4107T>C (p.Ala1369=) c.4158T>C (p.Ala1386=) c.*1999T>C (n.*1999T>C) c.*892T>C (n.*892T>C) c.2367T>C (n.2367T>C) c.4011T>C (p.Ala1337=) n.282T>C c.2268T>C (p.Ala756=) c.4020T>C (p.Ala1340=) | |
| 2 | g.165097333A>T | CA429880835 | SCN3A | c.4107T>A (p.Ala1369=) c.4158T>A (p.Ala1386=) c.*1999T>A (n.*1999T>A) c.*892T>A (n.*892T>A) c.2367T>A (n.2367T>A) c.4011T>A (p.Ala1337=) n.282T>A c.2268T>A (p.Ala756=) c.4020T>A (p.Ala1340=) | COSMIC |
| 2 | g.165097334G>A | CA349025395 | SCN3A | c.4106C>T (p.Ala1369Val) c.4157C>T (p.Ala1386Val) c.*1998C>T (n.*1998C>T) c.*891C>T (n.*891C>T) c.2366C>T (n.2366C>T) c.4010C>T (p.Ala1337Val) n.281C>T c.2267C>T (p.Ala756Val) c.4019C>T (p.Ala1340Val) | |
| 2 | g.165097334G>C | CA349025396 | SCN3A | c.4106C>G (p.Ala1369Gly) c.4157C>G (p.Ala1386Gly) c.*1998C>G (n.*1998C>G) c.*891C>G (n.*891C>G) c.2366C>G (n.2366C>G) c.4010C>G (p.Ala1337Gly) n.281C>G c.2267C>G (p.Ala756Gly) c.4019C>G (p.Ala1340Gly) | |
| 2 | g.165097334G>T | CA349025398 | SCN3A | c.4106C>A (p.Ala1369Asp) c.4157C>A (p.Ala1386Asp) c.*1998C>A (n.*1998C>A) c.*891C>A (n.*891C>A) c.2366C>A (n.2366C>A) c.4010C>A (p.Ala1337Asp) n.281C>A c.2267C>A (p.Ala756Asp) c.4019C>A (p.Ala1340Asp) | |
| 2 | g.165097335C>A | CA349025405 | SCN3A | c.4105G>T (p.Ala1369Ser) c.4156G>T (p.Ala1386Ser) c.*1997G>T (n.*1997G>T) c.*890G>T (n.*890G>T) c.2365G>T (n.2365G>T) c.4009G>T (p.Ala1337Ser) n.280G>T c.2266G>T (p.Ala756Ser) c.4018G>T (p.Ala1340Ser) | dbSNP |
| 2 | g.165097335C= | CA1304438434 | SCN3A | c.4105G= (p.Ala1369=) c.4156G= (p.Ala1386=) c.*1997G= (n.*1997G=) c.*890G= (n.*890G=) c.2365G= (n.2365G=) c.4009G= (p.Ala1337=) n.280G= c.2266G= (p.Ala756=) c.4018G= (p.Ala1340=) | |
| 2 | g.165097335C>G | CA349025406 | SCN3A | c.4105G>C (p.Ala1369Pro) c.4156G>C (p.Ala1386Pro) c.*1997G>C (n.*1997G>C) c.*890G>C (n.*890G>C) c.2365G>C (n.2365G>C) c.4009G>C (p.Ala1337Pro) n.280G>C c.2266G>C (p.Ala756Pro) c.4018G>C (p.Ala1340Pro) | |
| 2 | g.165097335C>T | CA349025407 | SCN3A | c.4105G>A (p.Ala1369Thr) c.4156G>A (p.Ala1386Thr) c.*1997G>A (n.*1997G>A) c.*890G>A (n.*890G>A) c.2365G>A (n.2365G>A) c.4009G>A (p.Ala1337Thr) n.280G>A c.2266G>A (p.Ala756Thr) c.4018G>A (p.Ala1340Thr) | |
| 2 | g.165097336C>A | CA349025411 | SCN3A | c.4104G>T (p.Gln1368His) c.4155G>T (p.Gln1385His) c.*1996G>T (n.*1996G>T) c.*889G>T (n.*889G>T) c.2364G>T (n.2364G>T) c.4008G>T (p.Gln1336His) n.279G>T c.2265G>T (p.Gln755His) c.4017G>T (p.Gln1339His) | |
| 2 | g.165097336C>G | CA349025409 | SCN3A | c.4104G>C (p.Gln1368His) c.4155G>C (p.Gln1385His) c.*1996G>C (n.*1996G>C) c.*889G>C (n.*889G>C) c.2364G>C (n.2364G>C) c.4008G>C (p.Gln1336His) n.279G>C c.2265G>C (p.Gln755His) c.4017G>C (p.Gln1339His) | |
| 2 | g.165097336C>T | CA429880836 | SCN3A | c.4104G>A (p.Gln1368=) c.4155G>A (p.Gln1385=) c.*1996G>A (n.*1996G>A) c.*889G>A (n.*889G>A) c.2364G>A (n.2364G>A) c.4008G>A (p.Gln1336=) n.279G>A c.2265G>A (p.Gln755=) c.4017G>A (p.Gln1339=) | ClinVar dbSNP |
| 2 | g.165097337T>A | CA349025414 | SCN3A | c.4103A>T (p.Gln1368Leu) c.4154A>T (p.Gln1385Leu) c.*1995A>T (n.*1995A>T) c.*888A>T (n.*888A>T) c.2363A>T (n.2363A>T) c.4007A>T (p.Gln1336Leu) n.278A>T c.2264A>T (p.Gln755Leu) c.4016A>T (p.Gln1339Leu) | |
| 2 | g.165097337T>C | CA349025420 | SCN3A | c.4103A>G (p.Gln1368Arg) c.4154A>G (p.Gln1385Arg) c.*1995A>G (n.*1995A>G) c.*888A>G (n.*888A>G) c.2363A>G (n.2363A>G) c.4007A>G (p.Gln1336Arg) n.278A>G c.2264A>G (p.Gln755Arg) c.4016A>G (p.Gln1339Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165097337T>G | CA349025416 | SCN3A | c.4103A>C (p.Gln1368Pro) c.4154A>C (p.Gln1385Pro) c.*1995A>C (n.*1995A>C) c.*888A>C (n.*888A>C) c.2363A>C (n.2363A>C) c.4007A>C (p.Gln1336Pro) n.278A>C c.2264A>C (p.Gln755Pro) c.4016A>C (p.Gln1339Pro) | |
| 2 | g.165097337T= | CA1304438435 | SCN3A | c.4103A= (p.Gln1368=) c.4154A= (p.Gln1385=) c.*1995A= (n.*1995A=) c.*888A= (n.*888A=) c.2363A= (n.2363A=) c.4007A= (p.Gln1336=) n.278A= c.2264A= (p.Gln755=) c.4016A= (p.Gln1339=) | |
| 2 | g.165097338G>A | CA349025423 | SCN3A | c.4102C>T (p.Gln1368Ter) c.4153C>T (p.Gln1385Ter) c.*1994C>T (n.*1994C>T) c.*887C>T (n.*887C>T) c.2362C>T (n.2362C>T) c.4006C>T (p.Gln1336Ter) n.277C>T c.2263C>T (p.Gln755Ter) c.4015C>T (p.Gln1339Ter) | dbSNP |
| 2 | g.165097338G>C | CA1938639 | SCN3A | c.4102C>G (p.Gln1368Glu) c.4153C>G (p.Gln1385Glu) c.*1994C>G (n.*1994C>G) c.*887C>G (n.*887C>G) c.2362C>G (n.2362C>G) c.4006C>G (p.Gln1336Glu) n.277C>G c.2263C>G (p.Gln755Glu) c.4015C>G (p.Gln1339Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097338G= | CA1304438436 | SCN3A | c.4102C= (p.Gln1368=) c.4153C= (p.Gln1385=) c.*1994C= (n.*1994C=) c.*887C= (n.*887C=) c.2362C= (n.2362C=) c.4006C= (p.Gln1336=) n.277C= c.2263C= (p.Gln755=) c.4015C= (p.Gln1339=) | |
| 2 | g.165097338G>T | CA349025429 | SCN3A | c.4102C>A (p.Gln1368Lys) c.4153C>A (p.Gln1385Lys) c.*1994C>A (n.*1994C>A) c.*887C>A (n.*887C>A) c.2362C>A (n.2362C>A) c.4006C>A (p.Gln1336Lys) n.277C>A c.2263C>A (p.Gln755Lys) c.4015C>A (p.Gln1339Lys) | |
| 2 | g.165097339A= | CA1304438438 | SCN3A | c.4101T= (p.Cys1367=) c.4152T= (p.Cys1384=) c.*1993T= (n.*1993T=) c.*886T= (n.*886T=) c.2361T= (n.2361T=) c.4005T= (p.Cys1335=) n.276T= c.2262T= (p.Cys754=) c.4014T= (p.Cys1338=) | |
| 2 | g.165097339A>C | CA349025432 | SCN3A | c.4101T>G (p.Cys1367Trp) c.4152T>G (p.Cys1384Trp) c.*1993T>G (n.*1993T>G) c.*886T>G (n.*886T>G) c.2361T>G (n.2361T>G) c.4005T>G (p.Cys1335Trp) n.276T>G c.2262T>G (p.Cys754Trp) c.4014T>G (p.Cys1338Trp) | |
| 2 | g.165097339A>G | CA429880837 | SCN3A | c.4101T>C (p.Cys1367=) c.4152T>C (p.Cys1384=) c.*1993T>C (n.*1993T>C) c.*886T>C (n.*886T>C) c.2361T>C (n.2361T>C) c.4005T>C (p.Cys1335=) n.276T>C c.2262T>C (p.Cys754=) c.4014T>C (p.Cys1338=) | |
| 2 | g.165097339A>T | CA349025433 | SCN3A | c.4101T>A (p.Cys1367Ter) c.4152T>A (p.Cys1384Ter) c.*1993T>A (n.*1993T>A) c.*886T>A (n.*886T>A) c.2361T>A (n.2361T>A) c.4005T>A (p.Cys1335Ter) n.276T>A c.2262T>A (p.Cys754Ter) c.4014T>A (p.Cys1338Ter) | dbSNP |
| 2 | g.165097339_165097343delinsACAGT | CA1304438437 | SCN3A | c.4097_4101delinsACTGT (p.Asp1366=) c.4148_4152delinsACTGT (p.Asp1383=) c.*1989_*1993delinsACTGT (n.*1989_*1993delinsACTGT) c.*882_*886delinsACTGT (n.*882_*886delinsACTGT) c.2357_2361delinsACTGT (n.2357_2361delinsACTGT) c.4001_4005delinsACTGT (p.Asp1334=) n.272_276delinsACTGT c.2258_2262delinsACTGT (p.Asp753=) c.4010_4014delinsACTGT (p.Asp1337=) | |
| 2 | g.165097340C>A | CA349025435 | SCN3A | c.4100G>T (p.Cys1367Phe) c.4151G>T (p.Cys1384Phe) c.*1992G>T (n.*1992G>T) c.*885G>T (n.*885G>T) c.2360G>T (n.2360G>T) c.4004G>T (p.Cys1335Phe) n.275G>T c.2261G>T (p.Cys754Phe) c.4013G>T (p.Cys1338Phe) | |
| 2 | g.165097340C>G | CA349025437 | SCN3A | c.4100G>C (p.Cys1367Ser) c.4151G>C (p.Cys1384Ser) c.*1992G>C (n.*1992G>C) c.*885G>C (n.*885G>C) c.2360G>C (n.2360G>C) c.4004G>C (p.Cys1335Ser) n.275G>C c.2261G>C (p.Cys754Ser) c.4013G>C (p.Cys1338Ser) | |
| 2 | g.165097340C>T | CA349025438 | SCN3A | c.4100G>A (p.Cys1367Tyr) c.4151G>A (p.Cys1384Tyr) c.*1992G>A (n.*1992G>A) c.*885G>A (n.*885G>A) c.2360G>A (n.2360G>A) c.4004G>A (p.Cys1335Tyr) n.275G>A c.2261G>A (p.Cys754Tyr) c.4013G>A (p.Cys1338Tyr) | |
| 2 | g.165097342_165097345del | CA915942917 | SCN3A | c.4097_4100del (p.Asp1366ValfsTer13) c.4148_4151del (p.Asp1383ValfsTer13) c.*1989_*1992del (n.*1989_*1992del) c.*882_*885del (n.*882_*885del) c.2357_2360del (n.2357_2360del) c.4001_4004del (p.Asp1334ValfsTer13) n.272_275del c.2258_2261del (p.Asp753ValfsTer13) c.4010_4013del (p.Asp1337ValfsTer13) | ClinVar dbSNP |
| 2 | g.165097341A= | CA1304438439 | SCN3A | c.4099T= (p.Cys1367=) c.4150T= (p.Cys1384=) c.*1991T= (n.*1991T=) c.*884T= (n.*884T=) c.2359T= (n.2359T=) c.4003T= (p.Cys1335=) n.274T= c.2260T= (p.Cys754=) c.4012T= (p.Cys1338=) | |
| 2 | g.165097341A>C | CA349025439 | SCN3A | c.4099T>G (p.Cys1367Gly) c.4150T>G (p.Cys1384Gly) c.*1991T>G (n.*1991T>G) c.*884T>G (n.*884T>G) c.2359T>G (n.2359T>G) c.4003T>G (p.Cys1335Gly) n.274T>G c.2260T>G (p.Cys754Gly) c.4012T>G (p.Cys1338Gly) | |
| 2 | g.165097341A>G | CA1938640 | SCN3A | c.4099T>C (p.Cys1367Arg) c.4150T>C (p.Cys1384Arg) c.*1991T>C (n.*1991T>C) c.*884T>C (n.*884T>C) c.2359T>C (n.2359T>C) c.4003T>C (p.Cys1335Arg) n.274T>C c.2260T>C (p.Cys754Arg) c.4012T>C (p.Cys1338Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097341A>T | CA349025442 | SCN3A | c.4099T>A (p.Cys1367Ser) c.4150T>A (p.Cys1384Ser) c.*1991T>A (n.*1991T>A) c.*884T>A (n.*884T>A) c.2359T>A (n.2359T>A) c.4003T>A (p.Cys1335Ser) n.274T>A c.2260T>A (p.Cys754Ser) c.4012T>A (p.Cys1338Ser) | gnomAD v4 |
| 2 | g.165097342G>A | CA429880838 | SCN3A | c.4098C>T (p.Asp1366=) c.4149C>T (p.Asp1383=) c.*1990C>T (n.*1990C>T) c.*883C>T (n.*883C>T) c.2358C>T (n.2358C>T) c.4002C>T (p.Asp1334=) n.273C>T c.2259C>T (p.Asp753=) c.4011C>T (p.Asp1337=) | gnomAD v4 |
| 2 | g.165097342G>C | CA349025444 | SCN3A | c.4098C>G (p.Asp1366Glu) c.4149C>G (p.Asp1383Glu) c.*1990C>G (n.*1990C>G) c.*883C>G (n.*883C>G) c.2358C>G (n.2358C>G) c.4002C>G (p.Asp1334Glu) n.273C>G c.2259C>G (p.Asp753Glu) c.4011C>G (p.Asp1337Glu) | COSMIC COSMIC |
| 2 | g.165097342G>T | CA349025445 | SCN3A | c.4098C>A (p.Asp1366Glu) c.4149C>A (p.Asp1383Glu) c.*1990C>A (n.*1990C>A) c.*883C>A (n.*883C>A) c.2358C>A (n.2358C>A) c.4002C>A (p.Asp1334Glu) n.273C>A c.2259C>A (p.Asp753Glu) c.4011C>A (p.Asp1337Glu) | |
| 2 | g.165097343T>A | CA349025448 | SCN3A | c.4097A>T (p.Asp1366Val) c.4148A>T (p.Asp1383Val) c.*1989A>T (n.*1989A>T) c.*882A>T (n.*882A>T) c.2357A>T (n.2357A>T) c.4001A>T (p.Asp1334Val) n.272A>T c.2258A>T (p.Asp753Val) c.4010A>T (p.Asp1337Val) | |
| 2 | g.165097343T>C | CA349025450 | SCN3A | c.4097A>G (p.Asp1366Gly) c.4148A>G (p.Asp1383Gly) c.*1989A>G (n.*1989A>G) c.*882A>G (n.*882A>G) c.2357A>G (n.2357A>G) c.4001A>G (p.Asp1334Gly) n.272A>G c.2258A>G (p.Asp753Gly) c.4010A>G (p.Asp1337Gly) | dbSNP |
| 2 | g.165097343T>G | CA349025449 | SCN3A | c.4097A>C (p.Asp1366Ala) c.4148A>C (p.Asp1383Ala) c.*1989A>C (n.*1989A>C) c.*882A>C (n.*882A>C) c.2357A>C (n.2357A>C) c.4001A>C (p.Asp1334Ala) n.272A>C c.2258A>C (p.Asp753Ala) c.4010A>C (p.Asp1337Ala) | |
| 2 | g.165097344C>A | CA349025453 | SCN3A | c.4096G>T (p.Asp1366Tyr) c.4147G>T (p.Asp1383Tyr) c.*1988G>T (n.*1988G>T) c.*881G>T (n.*881G>T) c.2356G>T (n.2356G>T) c.4000G>T (p.Asp1334Tyr) n.271G>T c.2257G>T (p.Asp753Tyr) c.4009G>T (p.Asp1337Tyr) | |
| 2 | g.165097344C>G | CA349025455 | SCN3A | c.4096G>C (p.Asp1366His) c.4147G>C (p.Asp1383His) c.*1988G>C (n.*1988G>C) c.*881G>C (n.*881G>C) c.2356G>C (n.2356G>C) c.4000G>C (p.Asp1334His) n.271G>C c.2257G>C (p.Asp753His) c.4009G>C (p.Asp1337His) | |
| 2 | g.165097344C>T | CA349025456 | SCN3A | c.4096G>A (p.Asp1366Asn) c.4147G>A (p.Asp1383Asn) c.*1988G>A (n.*1988G>A) c.*881G>A (n.*881G>A) c.2356G>A (n.2356G>A) c.4000G>A (p.Asp1334Asn) n.271G>A c.2257G>A (p.Asp753Asn) c.4009G>A (p.Asp1337Asn) | gnomAD v4 |
| 2 | g.165097345A>C | CA349025459 | SCN3A | c.4095T>G (p.Ser1365Arg) c.4146T>G (p.Ser1382Arg) c.*1987T>G (n.*1987T>G) c.*880T>G (n.*880T>G) c.2355T>G (n.2355T>G) c.3999T>G (p.Ser1333Arg) n.270T>G c.2256T>G (p.Ser752Arg) c.4008T>G (p.Ser1336Arg) | |
| 2 | g.165097345A>G | CA429880839 | SCN3A | c.4095T>C (p.Ser1365=) c.4146T>C (p.Ser1382=) c.*1987T>C (n.*1987T>C) c.*880T>C (n.*880T>C) c.2355T>C (n.2355T>C) c.3999T>C (p.Ser1333=) n.270T>C c.2256T>C (p.Ser752=) c.4008T>C (p.Ser1336=) | |
| 2 | g.165097345A>T | CA349025460 | SCN3A | c.4095T>A (p.Ser1365Arg) c.4146T>A (p.Ser1382Arg) c.*1987T>A (n.*1987T>A) c.*880T>A (n.*880T>A) c.2355T>A (n.2355T>A) c.3999T>A (p.Ser1333Arg) n.270T>A c.2256T>A (p.Ser752Arg) c.4008T>A (p.Ser1336Arg) | |
| 2 | g.165097346C>A | CA349025462 | SCN3A | c.4094G>T (p.Ser1365Ile) c.4145G>T (p.Ser1382Ile) c.*1986G>T (n.*1986G>T) c.*879G>T (n.*879G>T) c.2354G>T (n.2354G>T) c.3998G>T (p.Ser1333Ile) n.269G>T c.2255G>T (p.Ser752Ile) c.4007G>T (p.Ser1336Ile) | |
| 2 | g.165097346C>G | CA349025464 | SCN3A | c.4094G>C (p.Ser1365Thr) c.4145G>C (p.Ser1382Thr) c.*1986G>C (n.*1986G>C) c.*879G>C (n.*879G>C) c.2354G>C (n.2354G>C) c.3998G>C (p.Ser1333Thr) n.269G>C c.2255G>C (p.Ser752Thr) c.4007G>C (p.Ser1336Thr) | |
| 2 | g.165097346C>T | CA349025466 | SCN3A | c.4094G>A (p.Ser1365Asn) c.4145G>A (p.Ser1382Asn) c.*1986G>A (n.*1986G>A) c.*879G>A (n.*879G>A) c.2354G>A (n.2354G>A) c.3998G>A (p.Ser1333Asn) n.269G>A c.2255G>A (p.Ser752Asn) c.4007G>A (p.Ser1336Asn) | |
| 2 | g.165097347T>A | CA349025468 | SCN3A | c.4093A>T (p.Ser1365Cys) c.4144A>T (p.Ser1382Cys) c.*1985A>T (n.*1985A>T) c.*878A>T (n.*878A>T) c.2353A>T (n.2353A>T) c.3997A>T (p.Ser1333Cys) n.268A>T c.2254A>T (p.Ser752Cys) c.4006A>T (p.Ser1336Cys) | |
| 2 | g.165097347T>C | CA349025469 | SCN3A | c.4093A>G (p.Ser1365Gly) c.4144A>G (p.Ser1382Gly) c.*1985A>G (n.*1985A>G) c.*878A>G (n.*878A>G) c.2353A>G (n.2353A>G) c.3997A>G (p.Ser1333Gly) n.268A>G c.2254A>G (p.Ser752Gly) c.4006A>G (p.Ser1336Gly) | |
| 2 | g.165097347T>G | CA349025471 | SCN3A | c.4093A>C (p.Ser1365Arg) c.4144A>C (p.Ser1382Arg) c.*1985A>C (n.*1985A>C) c.*878A>C (n.*878A>C) c.2353A>C (n.2353A>C) c.3997A>C (p.Ser1333Arg) n.268A>C c.2254A>C (p.Ser752Arg) c.4006A>C (p.Ser1336Arg) | |
| 2 | g.165097348C>A | CA349025474 | SCN3A | c.4092G>T (p.Leu1364Phe) c.4143G>T (p.Leu1381Phe) c.*1984G>T (n.*1984G>T) c.*877G>T (n.*877G>T) c.2352G>T (n.2352G>T) c.3996G>T (p.Leu1332Phe) n.267G>T c.2253G>T (p.Leu751Phe) c.4005G>T (p.Leu1335Phe) | |
| 2 | g.165097348C>G | CA349025473 | SCN3A | c.4092G>C (p.Leu1364Phe) c.4143G>C (p.Leu1381Phe) c.*1984G>C (n.*1984G>C) c.*877G>C (n.*877G>C) c.2352G>C (n.2352G>C) c.3996G>C (p.Leu1332Phe) n.267G>C c.2253G>C (p.Leu751Phe) c.4005G>C (p.Leu1335Phe) | |
| 2 | g.165097348C>T | CA429880840 | SCN3A | c.4092G>A (p.Leu1364=) c.4143G>A (p.Leu1381=) c.*1984G>A (n.*1984G>A) c.*877G>A (n.*877G>A) c.2352G>A (n.2352G>A) c.3996G>A (p.Leu1332=) n.267G>A c.2253G>A (p.Leu751=) c.4005G>A (p.Leu1335=) | |
| 2 | g.165097349A= | CA1304438440 | SCN3A | c.4091T= (p.Leu1364=) c.4142T= (p.Leu1381=) c.*1983T= (n.*1983T=) c.*876T= (n.*876T=) c.2351T= (n.2351T=) c.3995T= (p.Leu1332=) n.266T= c.2252T= (p.Leu751=) c.4004T= (p.Leu1335=) | |
| 2 | g.165097349A>C | CA349025476 | SCN3A | c.4091T>G (p.Leu1364Trp) c.4142T>G (p.Leu1381Trp) c.*1983T>G (n.*1983T>G) c.*876T>G (n.*876T>G) c.2351T>G (n.2351T>G) c.3995T>G (p.Leu1332Trp) n.266T>G c.2252T>G (p.Leu751Trp) c.4004T>G (p.Leu1335Trp) | |
| 2 | g.165097349A>G | CA349025477 | SCN3A | c.4091T>C (p.Leu1364Ser) c.4142T>C (p.Leu1381Ser) c.*1983T>C (n.*1983T>C) c.*876T>C (n.*876T>C) c.2351T>C (n.2351T>C) c.3995T>C (p.Leu1332Ser) n.266T>C c.2252T>C (p.Leu751Ser) c.4004T>C (p.Leu1335Ser) | |
| 2 | g.165097349A>T | CA349025479 | SCN3A | c.4091T>A (p.Leu1364Ter) c.4142T>A (p.Leu1381Ter) c.*1983T>A (n.*1983T>A) c.*876T>A (n.*876T>A) c.2351T>A (n.2351T>A) c.3995T>A (p.Leu1332Ter) n.266T>A c.2252T>A (p.Leu751Ter) c.4004T>A (p.Leu1335Ter) | dbSNP |
| 2 | g.165097350A>C | CA349025481 | SCN3A | c.4090T>G (p.Leu1364Val) c.4141T>G (p.Leu1381Val) c.*1982T>G (n.*1982T>G) c.*875T>G (n.*875T>G) c.2350T>G (n.2350T>G) c.3994T>G (p.Leu1332Val) n.265T>G c.2251T>G (p.Leu751Val) c.4003T>G (p.Leu1335Val) | |
| 2 | g.165097350A>G | CA429880841 | SCN3A | c.4090T>C (p.Leu1364=) c.4141T>C (p.Leu1381=) c.*1982T>C (n.*1982T>C) c.*875T>C (n.*875T>C) c.2350T>C (n.2350T>C) c.3994T>C (p.Leu1332=) n.265T>C c.2251T>C (p.Leu751=) c.4003T>C (p.Leu1335=) | gnomAD v4 |
| 2 | g.165097350A>T | CA349025482 | SCN3A | c.4090T>A (p.Leu1364Met) c.4141T>A (p.Leu1381Met) c.*1982T>A (n.*1982T>A) c.*875T>A (n.*875T>A) c.2350T>A (n.2350T>A) c.3994T>A (p.Leu1332Met) n.265T>A c.2251T>A (p.Leu751Met) c.4003T>A (p.Leu1335Met) | gnomAD v4 |
| 2 | g.165097351A>C | CA349025483 | SCN3A | c.4089T>G (p.Asn1363Lys) c.4140T>G (p.Asn1380Lys) c.*1981T>G (n.*1981T>G) c.*874T>G (n.*874T>G) c.2349T>G (n.2349T>G) c.3993T>G (p.Asn1331Lys) n.264T>G c.2250T>G (p.Asn750Lys) c.4002T>G (p.Asn1334Lys) | |
| 2 | g.165097351A>G | CA429880842 | SCN3A | c.4089T>C (p.Asn1363=) c.4140T>C (p.Asn1380=) c.*1981T>C (n.*1981T>C) c.*874T>C (n.*874T>C) c.2349T>C (n.2349T>C) c.3993T>C (p.Asn1331=) n.264T>C c.2250T>C (p.Asn750=) c.4002T>C (p.Asn1334=) | |
| 2 | g.165097351A>T | CA349025485 | SCN3A | c.4089T>A (p.Asn1363Lys) c.4140T>A (p.Asn1380Lys) c.*1981T>A (n.*1981T>A) c.*874T>A (n.*874T>A) c.2349T>A (n.2349T>A) c.3993T>A (p.Asn1331Lys) n.264T>A c.2250T>A (p.Asn750Lys) c.4002T>A (p.Asn1334Lys) | |
| 2 | g.165097352T>A | CA349025490 | SCN3A | c.4088A>T (p.Asn1363Ile) c.4139A>T (p.Asn1380Ile) c.*1980A>T (n.*1980A>T) c.*873A>T (n.*873A>T) c.2348A>T (n.2348A>T) c.3992A>T (p.Asn1331Ile) n.263A>T c.2249A>T (p.Asn750Ile) c.4001A>T (p.Asn1334Ile) | |
| 2 | g.165097352T>C | CA349025488 | SCN3A | c.4088A>G (p.Asn1363Ser) c.4139A>G (p.Asn1380Ser) c.*1980A>G (n.*1980A>G) c.*873A>G (n.*873A>G) c.2348A>G (n.2348A>G) c.3992A>G (p.Asn1331Ser) n.263A>G c.2249A>G (p.Asn750Ser) c.4001A>G (p.Asn1334Ser) | |
| 2 | g.165097352T>G | CA349025489 | SCN3A | c.4088A>C (p.Asn1363Thr) c.4139A>C (p.Asn1380Thr) c.*1980A>C (n.*1980A>C) c.*873A>C (n.*873A>C) c.2348A>C (n.2348A>C) c.3992A>C (p.Asn1331Thr) n.263A>C c.2249A>C (p.Asn750Thr) c.4001A>C (p.Asn1334Thr) | |
| 2 | g.165097353T>A | CA349025493 | SCN3A | c.4087A>T (p.Asn1363Tyr) c.4138A>T (p.Asn1380Tyr) c.*1979A>T (n.*1979A>T) c.*872A>T (n.*872A>T) c.2347A>T (n.2347A>T) c.3991A>T (p.Asn1331Tyr) n.262A>T c.2248A>T (p.Asn750Tyr) c.4000A>T (p.Asn1334Tyr) | |
| 2 | g.165097353T>C | CA349025495 | SCN3A | c.4087A>G (p.Asn1363Asp) c.4138A>G (p.Asn1380Asp) c.*1979A>G (n.*1979A>G) c.*872A>G (n.*872A>G) c.2347A>G (n.2347A>G) c.3991A>G (p.Asn1331Asp) n.262A>G c.2248A>G (p.Asn750Asp) c.4000A>G (p.Asn1334Asp) | |
| 2 | g.165097353T>G | CA349025496 | SCN3A | c.4087A>C (p.Asn1363His) c.4138A>C (p.Asn1380His) c.*1979A>C (n.*1979A>C) c.*872A>C (n.*872A>C) c.2347A>C (n.2347A>C) c.3991A>C (p.Asn1331His) n.262A>C c.2248A>C (p.Asn750His) c.4000A>C (p.Asn1334His) | |
| 2 | g.165097354G>A | CA429880843 | SCN3A | c.4086C>T (p.Asn1362=) c.4137C>T (p.Asn1379=) c.*1978C>T (n.*1978C>T) c.*871C>T (n.*871C>T) c.2346C>T (n.2346C>T) c.3990C>T (p.Asn1330=) n.261C>T c.2247C>T (p.Asn749=) c.3999C>T (p.Asn1333=) | |
| 2 | g.165097354G>C | CA349025498 | SCN3A | c.4086C>G (p.Asn1362Lys) c.4137C>G (p.Asn1379Lys) c.*1978C>G (n.*1978C>G) c.*871C>G (n.*871C>G) c.2346C>G (n.2346C>G) c.3990C>G (p.Asn1330Lys) n.261C>G c.2247C>G (p.Asn749Lys) c.3999C>G (p.Asn1333Lys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.165097354G= | CA1304438441 | SCN3A | c.4086C= (p.Asn1362=) c.4137C= (p.Asn1379=) c.*1978C= (n.*1978C=) c.*871C= (n.*871C=) c.2346C= (n.2346C=) c.3990C= (p.Asn1330=) n.261C= c.2247C= (p.Asn749=) c.3999C= (p.Asn1333=) | |
| 2 | g.165097354G>T | CA349025500 | SCN3A | c.4086C>A (p.Asn1362Lys) c.4137C>A (p.Asn1379Lys) c.*1978C>A (n.*1978C>A) c.*871C>A (n.*871C>A) c.2346C>A (n.2346C>A) c.3990C>A (p.Asn1330Lys) n.261C>A c.2247C>A (p.Asn749Lys) c.3999C>A (p.Asn1333Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.165097355T>A | CA349025501 | SCN3A | c.4085A>T (p.Asn1362Ile) c.4136A>T (p.Asn1379Ile) c.*1977A>T (n.*1977A>T) c.*870A>T (n.*870A>T) c.2345A>T (n.2345A>T) c.3989A>T (p.Asn1330Ile) n.260A>T c.2246A>T (p.Asn749Ile) c.3998A>T (p.Asn1333Ile) | |
| 2 | g.165097355T>C | CA349025505 | SCN3A | c.4085A>G (p.Asn1362Ser) c.4136A>G (p.Asn1379Ser) c.*1977A>G (n.*1977A>G) c.*870A>G (n.*870A>G) c.2345A>G (n.2345A>G) c.3989A>G (p.Asn1330Ser) n.260A>G c.2246A>G (p.Asn749Ser) c.3998A>G (p.Asn1333Ser) | |
| 2 | g.165097355T>G | CA349025503 | SCN3A | c.4085A>C (p.Asn1362Thr) c.4136A>C (p.Asn1379Thr) c.*1977A>C (n.*1977A>C) c.*870A>C (n.*870A>C) c.2345A>C (n.2345A>C) c.3989A>C (p.Asn1330Thr) n.260A>C c.2246A>C (p.Asn749Thr) c.3998A>C (p.Asn1333Thr) | |
| 2 | g.165097356T>A | CA349025507 | SCN3A | c.4084A>T (p.Asn1362Tyr) c.4135A>T (p.Asn1379Tyr) c.*1976A>T (n.*1976A>T) c.*869A>T (n.*869A>T) c.2344A>T (n.2344A>T) c.3988A>T (p.Asn1330Tyr) n.259A>T c.2245A>T (p.Asn749Tyr) c.3997A>T (p.Asn1333Tyr) | |
| 2 | g.165097356T>C | CA349025510 | SCN3A | c.4084A>G (p.Asn1362Asp) c.4135A>G (p.Asn1379Asp) c.*1976A>G (n.*1976A>G) c.*869A>G (n.*869A>G) c.2344A>G (n.2344A>G) c.3988A>G (p.Asn1330Asp) n.259A>G c.2245A>G (p.Asn749Asp) c.3997A>G (p.Asn1333Asp) | |
| 2 | g.165097356T>G | CA349025512 | SCN3A | c.4084A>C (p.Asn1362His) c.4135A>C (p.Asn1379His) c.*1976A>C (n.*1976A>C) c.*869A>C (n.*869A>C) c.2344A>C (n.2344A>C) c.3988A>C (p.Asn1330His) n.259A>C c.2245A>C (p.Asn749His) c.3997A>C (p.Asn1333His) | |
| 2 | g.165097357A>C | CA429880844 | SCN3A | c.4083T>G (p.Val1361=) c.4134T>G (p.Val1378=) c.*1975T>G (n.*1975T>G) c.*868T>G (n.*868T>G) c.2343T>G (n.2343T>G) c.3987T>G (p.Val1329=) n.258T>G c.2244T>G (p.Val748=) c.3996T>G (p.Val1332=) | |
| 2 | g.165097357A>G | CA429880845 | SCN3A | c.4083T>C (p.Val1361=) c.4134T>C (p.Val1378=) c.*1975T>C (n.*1975T>C) c.*868T>C (n.*868T>C) c.2343T>C (n.2343T>C) c.3987T>C (p.Val1329=) n.258T>C c.2244T>C (p.Val748=) c.3996T>C (p.Val1332=) | |
| 2 | g.165097357A>T | CA429880846 | SCN3A | c.4083T>A (p.Val1361=) c.4134T>A (p.Val1378=) c.*1975T>A (n.*1975T>A) c.*868T>A (n.*868T>A) c.2343T>A (n.2343T>A) c.3987T>A (p.Val1329=) n.258T>A c.2244T>A (p.Val748=) c.3996T>A (p.Val1332=) | |
| 2 | g.165097358A>C | CA349025513 | SCN3A | c.4082T>G (p.Val1361Gly) c.4133T>G (p.Val1378Gly) c.*1974T>G (n.*1974T>G) c.*867T>G (n.*867T>G) c.2342T>G (n.2342T>G) c.3986T>G (p.Val1329Gly) n.257T>G c.2243T>G (p.Val748Gly) c.3995T>G (p.Val1332Gly) | |
| 2 | g.165097358A>G | CA349025514 | SCN3A | c.4082T>C (p.Val1361Ala) c.4133T>C (p.Val1378Ala) c.*1974T>C (n.*1974T>C) c.*867T>C (n.*867T>C) c.2342T>C (n.2342T>C) c.3986T>C (p.Val1329Ala) n.257T>C c.2243T>C (p.Val748Ala) c.3995T>C (p.Val1332Ala) | |
| 2 | g.165097358A>T | CA349025515 | SCN3A | c.4082T>A (p.Val1361Asp) c.4133T>A (p.Val1378Asp) c.*1974T>A (n.*1974T>A) c.*867T>A (n.*867T>A) c.2342T>A (n.2342T>A) c.3986T>A (p.Val1329Asp) n.257T>A c.2243T>A (p.Val748Asp) c.3995T>A (p.Val1332Asp) | |
| 2 | g.165097359C>A | CA349025516 | SCN3A | c.4081G>T (p.Val1361Phe) c.4132G>T (p.Val1378Phe) c.*1973G>T (n.*1973G>T) c.*866G>T (n.*866G>T) c.2341G>T (n.2341G>T) c.3985G>T (p.Val1329Phe) n.256G>T c.2242G>T (p.Val748Phe) c.3994G>T (p.Val1332Phe) | |
| 2 | g.165097359C>G | CA349025517 | SCN3A | c.4081G>C (p.Val1361Leu) c.4132G>C (p.Val1378Leu) c.*1973G>C (n.*1973G>C) c.*866G>C (n.*866G>C) c.2341G>C (n.2341G>C) c.3985G>C (p.Val1329Leu) n.256G>C c.2242G>C (p.Val748Leu) c.3994G>C (p.Val1332Leu) | |
| 2 | g.165097359C>T | CA349025518 | SCN3A | c.4081G>A (p.Val1361Ile) c.4132G>A (p.Val1378Ile) c.*1973G>A (n.*1973G>A) c.*866G>A (n.*866G>A) c.2341G>A (n.2341G>A) c.3985G>A (p.Val1329Ile) n.256G>A c.2242G>A (p.Val748Ile) c.3994G>A (p.Val1332Ile) | |
| 2 | g.165097360A= | CA1304438442 | SCN3A | c.4080T= (p.Asp1360=) c.4131T= (p.Asp1377=) c.*1972T= (n.*1972T=) c.*865T= (n.*865T=) c.2340T= (n.2340T=) c.3984T= (p.Asp1328=) n.255T= c.2241T= (p.Asp747=) c.3993T= (p.Asp1331=) | |
| 2 | g.165097360A>C | CA349025519 | SCN3A | c.4080T>G (p.Asp1360Glu) c.4131T>G (p.Asp1377Glu) c.*1972T>G (n.*1972T>G) c.*865T>G (n.*865T>G) c.2340T>G (n.2340T>G) c.3984T>G (p.Asp1328Glu) n.255T>G c.2241T>G (p.Asp747Glu) c.3993T>G (p.Asp1331Glu) | |
| 2 | g.165097360A>G | CA59712718 | SCN3A | c.4080T>C (p.Asp1360=) c.4131T>C (p.Asp1377=) c.*1972T>C (n.*1972T>C) c.*865T>C (n.*865T>C) c.2340T>C (n.2340T>C) c.3984T>C (p.Asp1328=) n.255T>C c.2241T>C (p.Asp747=) c.3993T>C (p.Asp1331=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097360A>T | CA349025520 | SCN3A | c.4080T>A (p.Asp1360Glu) c.4131T>A (p.Asp1377Glu) c.*1972T>A (n.*1972T>A) c.*865T>A (n.*865T>A) c.2340T>A (n.2340T>A) c.3984T>A (p.Asp1328Glu) n.255T>A c.2241T>A (p.Asp747Glu) c.3993T>A (p.Asp1331Glu) | |
| 2 | g.165097361T>A | CA349025521 | SCN3A | c.4079A>T (p.Asp1360Val) c.4130A>T (p.Asp1377Val) c.*1971A>T (n.*1971A>T) c.*864A>T (n.*864A>T) c.2339A>T (n.2339A>T) c.3983A>T (p.Asp1328Val) n.254A>T c.2240A>T (p.Asp747Val) c.3992A>T (p.Asp1331Val) | |
| 2 | g.165097361T>C | CA349025523 | SCN3A | c.4079A>G (p.Asp1360Gly) c.4130A>G (p.Asp1377Gly) c.*1971A>G (n.*1971A>G) c.*864A>G (n.*864A>G) c.2339A>G (n.2339A>G) c.3983A>G (p.Asp1328Gly) n.254A>G c.2240A>G (p.Asp747Gly) c.3992A>G (p.Asp1331Gly) | |
| 2 | g.165097361T>G | CA349025522 | SCN3A | c.4079A>C (p.Asp1360Ala) c.4130A>C (p.Asp1377Ala) c.*1971A>C (n.*1971A>C) c.*864A>C (n.*864A>C) c.2339A>C (n.2339A>C) c.3983A>C (p.Asp1328Ala) n.254A>C c.2240A>C (p.Asp747Ala) c.3992A>C (p.Asp1331Ala) | |
| 2 | g.165097362C>A | CA349025524 | SCN3A | c.4078G>T (p.Asp1360Tyr) c.4129G>T (p.Asp1377Tyr) c.*1970G>T (n.*1970G>T) c.*863G>T (n.*863G>T) c.2338G>T (n.2338G>T) c.3982G>T (p.Asp1328Tyr) n.253G>T c.2239G>T (p.Asp747Tyr) c.3991G>T (p.Asp1331Tyr) | |
| 2 | g.165097362C= | CA1304438443 | SCN3A | c.4078G= (p.Asp1360=) c.4129G= (p.Asp1377=) c.*1970G= (n.*1970G=) c.*863G= (n.*863G=) c.2338G= (n.2338G=) c.3982G= (p.Asp1328=) n.253G= c.2239G= (p.Asp747=) c.3991G= (p.Asp1331=) | |
| 2 | g.165097362C>G | CA349025525 | SCN3A | c.4078G>C (p.Asp1360His) c.4129G>C (p.Asp1377His) c.*1970G>C (n.*1970G>C) c.*863G>C (n.*863G>C) c.2338G>C (n.2338G>C) c.3982G>C (p.Asp1328His) n.253G>C c.2239G>C (p.Asp747His) c.3991G>C (p.Asp1331His) | |
| 2 | g.165097362C>T | CA1938641 | SCN3A | c.4078G>A (p.Asp1360Asn) c.4129G>A (p.Asp1377Asn) c.*1970G>A (n.*1970G>A) c.*863G>A (n.*863G>A) c.2338G>A (n.2338G>A) c.3982G>A (p.Asp1328Asn) n.253G>A c.2239G>A (p.Asp747Asn) c.3991G>A (p.Asp1331Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 2 | g.165097363A>C | CA349025526 | SCN3A | c.4077T>G (p.Ser1359Arg) c.4128T>G (p.Ser1376Arg) c.*1969T>G (n.*1969T>G) c.*862T>G (n.*862T>G) c.2337T>G (n.2337T>G) c.3981T>G (p.Ser1327Arg) n.252T>G c.2238T>G (p.Ser746Arg) c.3990T>G (p.Ser1330Arg) | |
| 2 | g.165097363A>G | CA429880847 | SCN3A | c.4077T>C (p.Ser1359=) c.4128T>C (p.Ser1376=) c.*1969T>C (n.*1969T>C) c.*862T>C (n.*862T>C) c.2337T>C (n.2337T>C) c.3981T>C (p.Ser1327=) n.252T>C c.2238T>C (p.Ser746=) c.3990T>C (p.Ser1330=) | |
| 2 | g.165097363A>T | CA349025527 | SCN3A | c.4077T>A (p.Ser1359Arg) c.4128T>A (p.Ser1376Arg) c.*1969T>A (n.*1969T>A) c.*862T>A (n.*862T>A) c.2337T>A (n.2337T>A) c.3981T>A (p.Ser1327Arg) n.252T>A c.2238T>A (p.Ser746Arg) c.3990T>A (p.Ser1330Arg) | |
| 2 | g.165097364C>A | CA349025528 | SCN3A | c.4076G>T (p.Ser1359Ile) c.4127G>T (p.Ser1376Ile) c.*1968G>T (n.*1968G>T) c.*861G>T (n.*861G>T) c.2336G>T (n.2336G>T) c.3980G>T (p.Ser1327Ile) n.251G>T c.2237G>T (p.Ser746Ile) c.3989G>T (p.Ser1330Ile) | |
| 2 | g.165097364C>G | CA349025529 | SCN3A | c.4076G>C (p.Ser1359Thr) c.4127G>C (p.Ser1376Thr) c.*1968G>C (n.*1968G>C) c.*861G>C (n.*861G>C) c.2336G>C (n.2336G>C) c.3980G>C (p.Ser1327Thr) n.251G>C c.2237G>C (p.Ser746Thr) c.3989G>C (p.Ser1330Thr) | ClinVar gnomAD v4 |
| 2 | g.165097364C>T | CA349025530 | SCN3A | c.4076G>A (p.Ser1359Asn) c.4127G>A (p.Ser1376Asn) c.*1968G>A (n.*1968G>A) c.*861G>A (n.*861G>A) c.2336G>A (n.2336G>A) c.3980G>A (p.Ser1327Asn) n.251G>A c.2237G>A (p.Ser746Asn) c.3989G>A (p.Ser1330Asn) | gnomAD v4 |
| 2 | g.165097365T>A | CA349025531 | SCN3A | c.4075A>T (p.Ser1359Cys) c.4126A>T (p.Ser1376Cys) c.*1967A>T (n.*1967A>T) c.*860A>T (n.*860A>T) c.2335A>T (n.2335A>T) c.3979A>T (p.Ser1327Cys) n.250A>T c.2236A>T (p.Ser746Cys) c.3988A>T (p.Ser1330Cys) | |
| 2 | g.165097365T>C | CA349025532 | SCN3A | c.4075A>G (p.Ser1359Gly) c.4126A>G (p.Ser1376Gly) c.*1967A>G (n.*1967A>G) c.*860A>G (n.*860A>G) c.2335A>G (n.2335A>G) c.3979A>G (p.Ser1327Gly) n.250A>G c.2236A>G (p.Ser746Gly) c.3988A>G (p.Ser1330Gly) | dbSNP |
| 2 | g.165097365T>G | CA349025533 | SCN3A | c.4075A>C (p.Ser1359Arg) c.4126A>C (p.Ser1376Arg) c.*1967A>C (n.*1967A>C) c.*860A>C (n.*860A>C) c.2335A>C (n.2335A>C) c.3979A>C (p.Ser1327Arg) n.250A>C c.2236A>C (p.Ser746Arg) c.3988A>C (p.Ser1330Arg) | |
| 2 | g.165097365T= | CA1304438444 | SCN3A | c.4075A= (p.Ser1359=) c.4126A= (p.Ser1376=) c.*1967A= (n.*1967A=) c.*860A= (n.*860A=) c.2335A= (n.2335A=) c.3979A= (p.Ser1327=) n.250A= c.2236A= (p.Ser746=) c.3988A= (p.Ser1330=) | |
| 2 | g.165097366A>C | CA349025534 | SCN3A | c.4074T>G (p.Ile1358Met) c.4125T>G (p.Ile1375Met) c.*1966T>G (n.*1966T>G) c.*859T>G (n.*859T>G) c.2334T>G (n.2334T>G) c.3978T>G (p.Ile1326Met) n.249T>G c.2235T>G (p.Ile745Met) c.3987T>G (p.Ile1329Met) | |
| 2 | g.165097366A>G | CA429880848 | SCN3A | c.4074T>C (p.Ile1358=) c.4125T>C (p.Ile1375=) c.*1966T>C (n.*1966T>C) c.*859T>C (n.*859T>C) c.2334T>C (n.2334T>C) c.3978T>C (p.Ile1326=) n.249T>C c.2235T>C (p.Ile745=) c.3987T>C (p.Ile1329=) | |
| 2 | g.165097366A>T | CA429880849 | SCN3A | c.4074T>A (p.Ile1358=) c.4125T>A (p.Ile1375=) c.*1966T>A (n.*1966T>A) c.*859T>A (n.*859T>A) c.2334T>A (n.2334T>A) c.3978T>A (p.Ile1326=) n.249T>A c.2235T>A (p.Ile745=) c.3987T>A (p.Ile1329=) | |
| 2 | g.165097367A>C | CA349025535 | SCN3A | c.4073T>G (p.Ile1358Ser) c.4124T>G (p.Ile1375Ser) c.*1965T>G (n.*1965T>G) c.*858T>G (n.*858T>G) c.2333T>G (n.2333T>G) c.3977T>G (p.Ile1326Ser) n.248T>G c.2234T>G (p.Ile745Ser) c.3986T>G (p.Ile1329Ser) | |
| 2 | g.165097367A>G | CA349025536 | SCN3A | c.4073T>C (p.Ile1358Thr) c.4124T>C (p.Ile1375Thr) c.*1965T>C (n.*1965T>C) c.*858T>C (n.*858T>C) c.2333T>C (n.2333T>C) c.3977T>C (p.Ile1326Thr) n.248T>C c.2234T>C (p.Ile745Thr) c.3986T>C (p.Ile1329Thr) | |
| 2 | g.165097367A>T | CA349025537 | SCN3A | c.4073T>A (p.Ile1358Asn) c.4124T>A (p.Ile1375Asn) c.*1965T>A (n.*1965T>A) c.*858T>A (n.*858T>A) c.2333T>A (n.2333T>A) c.3977T>A (p.Ile1326Asn) n.248T>A c.2234T>A (p.Ile745Asn) c.3986T>A (p.Ile1329Asn) | |
| 2 | g.165097368T>A | CA1938643 | SCN3A | c.4072A>T (p.Ile1358Phe) c.4123A>T (p.Ile1375Phe) c.*1964A>T (n.*1964A>T) c.*857A>T (n.*857A>T) c.2332A>T (n.2332A>T) c.3976A>T (p.Ile1326Phe) n.247A>T c.2233A>T (p.Ile745Phe) c.3985A>T (p.Ile1329Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097368T>C | CA1938642 | SCN3A | c.4072A>G (p.Ile1358Val) c.4123A>G (p.Ile1375Val) c.*1964A>G (n.*1964A>G) c.*857A>G (n.*857A>G) c.2332A>G (n.2332A>G) c.3976A>G (p.Ile1326Val) n.247A>G c.2233A>G (p.Ile745Val) c.3985A>G (p.Ile1329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.165097368T>G | CA349025538 | SCN3A | c.4072A>C (p.Ile1358Leu) c.4123A>C (p.Ile1375Leu) c.*1964A>C (n.*1964A>C) c.*857A>C (n.*857A>C) c.2332A>C (n.2332A>C) c.3976A>C (p.Ile1326Leu) n.247A>C c.2233A>C (p.Ile745Leu) c.3985A>C (p.Ile1329Leu) | |
| 2 | g.165097368T= | CA1304438445 | SCN3A | c.4072A= (p.Ile1358=) c.4123A= (p.Ile1375=) c.*1964A= (n.*1964A=) c.*857A= (n.*857A=) c.2332A= (n.2332A=) c.3976A= (p.Ile1326=) n.247A= c.2233A= (p.Ile745=) c.3985A= (p.Ile1329=) | |
| 2 | g.165097369G>A | CA429880850 | SCN3A | c.4071C>T (p.Asp1357=) c.4122C>T (p.Asp1374=) c.*1963C>T (n.*1963C>T) c.*856C>T (n.*856C>T) c.2331C>T (n.2331C>T) c.3975C>T (p.Asp1325=) n.246C>T c.2232C>T (p.Asp744=) c.3984C>T (p.Asp1328=) | ClinVar |
| 2 | g.165097369G>C | CA349025539 | SCN3A | c.4071C>G (p.Asp1357Glu) c.4122C>G (p.Asp1374Glu) c.*1963C>G (n.*1963C>G) c.*856C>G (n.*856C>G) c.2331C>G (n.2331C>G) c.3975C>G (p.Asp1325Glu) n.246C>G c.2232C>G (p.Asp744Glu) c.3984C>G (p.Asp1328Glu) | |
| 2 | g.165097369G>T | CA349025540 | SCN3A | c.4071C>A (p.Asp1357Glu) c.4122C>A (p.Asp1374Glu) c.*1963C>A (n.*1963C>A) c.*856C>A (n.*856C>A) c.2331C>A (n.2331C>A) c.3975C>A (p.Asp1325Glu) n.246C>A c.2232C>A (p.Asp744Glu) c.3984C>A (p.Asp1328Glu) | |
| 2 | g.165097370T>A | CA1938644 | SCN3A | c.4070A>T (p.Asp1357Val) c.4121A>T (p.Asp1374Val) c.*1962A>T (n.*1962A>T) c.*855A>T (n.*855A>T) c.2330A>T (n.2330A>T) c.3974A>T (p.Asp1325Val) n.245A>T c.2231A>T (p.Asp744Val) c.3983A>T (p.Asp1328Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097370T>C | CA349025541 | SCN3A | c.4070A>G (p.Asp1357Gly) c.4121A>G (p.Asp1374Gly) c.*1962A>G (n.*1962A>G) c.*855A>G (n.*855A>G) c.2330A>G (n.2330A>G) c.3974A>G (p.Asp1325Gly) n.245A>G c.2231A>G (p.Asp744Gly) c.3983A>G (p.Asp1328Gly) | |
| 2 | g.165097370T>G | CA349025542 | SCN3A | c.4070A>C (p.Asp1357Ala) c.4121A>C (p.Asp1374Ala) c.*1962A>C (n.*1962A>C) c.*855A>C (n.*855A>C) c.2330A>C (n.2330A>C) c.3974A>C (p.Asp1325Ala) n.245A>C c.2231A>C (p.Asp744Ala) c.3983A>C (p.Asp1328Ala) | |
| 2 | g.165097370T= | CA1304438446 | SCN3A | c.4070A= (p.Asp1357=) c.4121A= (p.Asp1374=) c.*1962A= (n.*1962A=) c.*855A= (n.*855A=) c.2330A= (n.2330A=) c.3974A= (p.Asp1325=) n.245A= c.2231A= (p.Asp744=) c.3983A= (p.Asp1328=) | |
| 2 | g.165097371C>A | CA349025543 | SCN3A | c.4069G>T (p.Asp1357Tyr) c.4120G>T (p.Asp1374Tyr) c.*1961G>T (n.*1961G>T) c.*854G>T (n.*854G>T) c.2329G>T (n.2329G>T) c.3973G>T (p.Asp1325Tyr) n.244G>T c.2230G>T (p.Asp744Tyr) c.3982G>T (p.Asp1328Tyr) | |
| 2 | g.165097371C>G | CA349025544 | SCN3A | c.4069G>C (p.Asp1357His) c.4120G>C (p.Asp1374His) c.*1961G>C (n.*1961G>C) c.*854G>C (n.*854G>C) c.2329G>C (n.2329G>C) c.3973G>C (p.Asp1325His) n.244G>C c.2230G>C (p.Asp744His) c.3982G>C (p.Asp1328His) | |
| 2 | g.165097371C>T | CA349025545 | SCN3A | c.4069G>A (p.Asp1357Asn) c.4120G>A (p.Asp1374Asn) c.*1961G>A (n.*1961G>A) c.*854G>A (n.*854G>A) c.2329G>A (n.2329G>A) c.3973G>A (p.Asp1325Asn) n.244G>A c.2230G>A (p.Asp744Asn) c.3982G>A (p.Asp1328Asn) | |
| 2 | g.165097372A>C | CA349025546 | SCN3A | c.4068T>G (p.Phe1356Leu) c.4119T>G (p.Phe1373Leu) c.*1960T>G (n.*1960T>G) c.*853T>G (n.*853T>G) c.2328T>G (n.2328T>G) c.3972T>G (p.Phe1324Leu) n.243T>G c.2229T>G (p.Phe743Leu) c.3981T>G (p.Phe1327Leu) | |
| 2 | g.165097372A>G | CA429880851 | SCN3A | c.4068T>C (p.Phe1356=) c.4119T>C (p.Phe1373=) c.*1960T>C (n.*1960T>C) c.*853T>C (n.*853T>C) c.2328T>C (n.2328T>C) c.3972T>C (p.Phe1324=) n.243T>C c.2229T>C (p.Phe743=) c.3981T>C (p.Phe1327=) | |
| 2 | g.165097372A>T | CA349025547 | SCN3A | c.4068T>A (p.Phe1356Leu) c.4119T>A (p.Phe1373Leu) c.*1960T>A (n.*1960T>A) c.*853T>A (n.*853T>A) c.2328T>A (n.2328T>A) c.3972T>A (p.Phe1324Leu) n.243T>A c.2229T>A (p.Phe743Leu) c.3981T>A (p.Phe1327Leu) | |
| 2 | g.165097373A>C | CA349025548 | SCN3A | c.4067T>G (p.Phe1356Cys) c.4118T>G (p.Phe1373Cys) c.*1959T>G (n.*1959T>G) c.*852T>G (n.*852T>G) c.2327T>G (n.2327T>G) c.3971T>G (p.Phe1324Cys) n.242T>G c.2228T>G (p.Phe743Cys) c.3980T>G (p.Phe1327Cys) | |
| 2 | g.165097373A>G | CA349025549 | SCN3A | c.4067T>C (p.Phe1356Ser) c.4118T>C (p.Phe1373Ser) c.*1959T>C (n.*1959T>C) c.*852T>C (n.*852T>C) c.2327T>C (n.2327T>C) c.3971T>C (p.Phe1324Ser) n.242T>C c.2228T>C (p.Phe743Ser) c.3980T>C (p.Phe1327Ser) | |
| 2 | g.165097373A>T | CA349025550 | SCN3A | c.4067T>A (p.Phe1356Tyr) c.4118T>A (p.Phe1373Tyr) c.*1959T>A (n.*1959T>A) c.*852T>A (n.*852T>A) c.2327T>A (n.2327T>A) c.3971T>A (p.Phe1324Tyr) n.242T>A c.2228T>A (p.Phe743Tyr) c.3980T>A (p.Phe1327Tyr) | |
| 2 | g.165097374A= | CA1304438447 | SCN3A | c.4066T= (p.Phe1356=) c.4117T= (p.Phe1373=) c.*1958T= (n.*1958T=) c.*851T= (n.*851T=) c.2326T= (n.2326T=) c.3970T= (p.Phe1324=) n.241T= c.2227T= (p.Phe743=) c.3979T= (p.Phe1327=) | |
| 2 | g.165097374A>C | CA349025552 | SCN3A | c.4066T>G (p.Phe1356Val) c.4117T>G (p.Phe1373Val) c.*1958T>G (n.*1958T>G) c.*851T>G (n.*851T>G) c.2326T>G (n.2326T>G) c.3970T>G (p.Phe1324Val) n.241T>G c.2227T>G (p.Phe743Val) c.3979T>G (p.Phe1327Val) | |
| 2 | g.165097374A>G | CA59712741 | SCN3A | c.4066T>C (p.Phe1356Leu) c.4117T>C (p.Phe1373Leu) c.*1958T>C (n.*1958T>C) c.*851T>C (n.*851T>C) c.2326T>C (n.2326T>C) c.3970T>C (p.Phe1324Leu) n.241T>C c.2227T>C (p.Phe743Leu) c.3979T>C (p.Phe1327Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.165097374A>T | CA349025551 | SCN3A | c.4066T>A (p.Phe1356Ile) c.4117T>A (p.Phe1373Ile) c.*1958T>A (n.*1958T>A) c.*851T>A (n.*851T>A) c.2326T>A (n.2326T>A) c.3970T>A (p.Phe1324Ile) n.241T>A c.2227T>A (p.Phe743Ile) c.3979T>A (p.Phe1327Ile) | |
| 2 | g.165097375C>A | CA349025553 | SCN3A | c.4065G>T (p.Met1355Ile) c.4116G>T (p.Met1372Ile) c.*1957G>T (n.*1957G>T) c.*850G>T (n.*850G>T) c.2325G>T (n.2325G>T) c.3969G>T (p.Met1323Ile) n.240G>T c.2226G>T (p.Met742Ile) c.3978G>T (p.Met1326Ile) | COSMIC COSMIC |
| 2 | g.165097375C>G | CA349025554 | SCN3A | c.4065G>C (p.Met1355Ile) c.4116G>C (p.Met1372Ile) c.*1957G>C (n.*1957G>C) c.*850G>C (n.*850G>C) c.2325G>C (n.2325G>C) c.3969G>C (p.Met1323Ile) n.240G>C c.2226G>C (p.Met742Ile) c.3978G>C (p.Met1326Ile) | |
| 2 | g.165097375C>T | CA349025555 | SCN3A | c.4065G>A (p.Met1355Ile) c.4116G>A (p.Met1372Ile) c.*1957G>A (n.*1957G>A) c.*850G>A (n.*850G>A) c.2325G>A (n.2325G>A) c.3969G>A (p.Met1323Ile) n.240G>A c.2226G>A (p.Met742Ile) c.3978G>A (p.Met1326Ile) | |
| 2 | g.165097376A>C | CA349025556 | SCN3A | c.4064T>G (p.Met1355Arg) c.4115T>G (p.Met1372Arg) c.*1956T>G (n.*1956T>G) c.*849T>G (n.*849T>G) c.2324T>G (n.2324T>G) c.3968T>G (p.Met1323Arg) n.239T>G c.2225T>G (p.Met742Arg) c.3977T>G (p.Met1326Arg) | |
| 2 | g.165097376A>G | CA349025557 | SCN3A | c.4064T>C (p.Met1355Thr) c.4115T>C (p.Met1372Thr) c.*1956T>C (n.*1956T>C) c.*849T>C (n.*849T>C) c.2324T>C (n.2324T>C) c.3968T>C (p.Met1323Thr) n.239T>C c.2225T>C (p.Met742Thr) c.3977T>C (p.Met1326Thr) | gnomAD v4 |
| 2 | g.165097376A>T | CA349025558 | SCN3A | c.4064T>A (p.Met1355Lys) c.4115T>A (p.Met1372Lys) c.*1956T>A (n.*1956T>A) c.*849T>A (n.*849T>A) c.2324T>A (n.2324T>A) c.3968T>A (p.Met1323Lys) n.239T>A c.2225T>A (p.Met742Lys) c.3977T>A (p.Met1326Lys) | gnomAD v4 |
| 2 | g.165097377T>A | CA349025559 | SCN3A | c.4063A>T (p.Met1355Leu) c.4114A>T (p.Met1372Leu) c.*1955A>T (n.*1955A>T) c.*848A>T (n.*848A>T) c.2323A>T (n.2323A>T) c.3967A>T (p.Met1323Leu) n.238A>T c.2224A>T (p.Met742Leu) c.3976A>T (p.Met1326Leu) | |
| 2 | g.165097377T>C | CA1938645 | SCN3A | c.4063A>G (p.Met1355Val) c.4114A>G (p.Met1372Val) c.*1955A>G (n.*1955A>G) c.*848A>G (n.*848A>G) c.2323A>G (n.2323A>G) c.3967A>G (p.Met1323Val) n.238A>G c.2224A>G (p.Met742Val) c.3976A>G (p.Met1326Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165097377T>G | CA349025560 | SCN3A | c.4063A>C (p.Met1355Leu) c.4114A>C (p.Met1372Leu) c.*1955A>C (n.*1955A>C) c.*848A>C (n.*848A>C) c.2323A>C (n.2323A>C) c.3967A>C (p.Met1323Leu) n.238A>C c.2224A>C (p.Met742Leu) c.3976A>C (p.Met1326Leu) | |
| 2 | g.165097377T= | CA1304438448 | SCN3A | c.4063A= (p.Met1355=) c.4114A= (p.Met1372=) c.*1955A= (n.*1955A=) c.*848A= (n.*848A=) c.2323A= (n.2323A=) c.3967A= (p.Met1323=) n.238A= c.2224A= (p.Met742=) c.3976A= (p.Met1326=) |