| 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) | 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) |