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