| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38556556_38556557delinsTC | CA1358563545 | SCN5A | c.4318_4319delinsGA (p.Glu1440=) c.4321_4322delinsGA (p.Glu1441=) c.4267_4268delinsGA (p.Glu1423=) c.4159_4160delinsGA (p.Glu1387=) c.4192_4193delinsGA (p.Glu1398=) c.4264_4265delinsGA (p.Glu1422=) | |
| 3 | g.38556557C>A | CA352145481 | SCN5A | c.4318G>T (p.Glu1440Ter) c.4321G>T (p.Glu1441Ter) c.4267G>T (p.Glu1423Ter) c.4159G>T (p.Glu1387Ter) c.4192G>T (p.Glu1398Ter) c.4264G>T (p.Glu1422Ter) | dbSNP |
| 3 | g.38556557C= | CA1358563554 | SCN5A | c.4318G= (p.Glu1440=) c.4321G= (p.Glu1441=) c.4267G= (p.Glu1423=) c.4159G= (p.Glu1387=) c.4192G= (p.Glu1398=) c.4264G= (p.Glu1422=) | |
| 3 | g.38556557C>G | CA018141 | SCN5A | c.4318G>C (p.Glu1440Gln) c.4321G>C (p.Glu1441Gln) c.4267G>C (p.Glu1423Gln) c.4159G>C (p.Glu1387Gln) c.4192G>C (p.Glu1398Gln) c.4264G>C (p.Glu1422Gln) | ClinVar dbSNP |
| 3 | g.38556557C>T | CA352145482 | SCN5A | c.4318G>A (p.Glu1440Lys) c.4321G>A (p.Glu1441Lys) c.4267G>A (p.Glu1423Lys) c.4159G>A (p.Glu1387Lys) c.4192G>A (p.Glu1398Lys) c.4264G>A (p.Glu1422Lys) | |
| 3 | g.38556559dup | CA1358563553 | SCN5A | c.4318dup (p.Glu1440GlyfsTer?) c.4321dup (p.Glu1441GlyfsTer?) c.4267dup (p.Glu1423GlyfsTer?) c.4159dup (p.Glu1387GlyfsTer?) c.4192dup (p.Glu1398GlyfsTer?) c.4264dup (p.Glu1422GlyfsTer?) | dbSNP |
| 3 | g.38556559del | CA906898018 | SCN5A | c.4318del (p.Glu1440AsnfsTer22) c.4321del (p.Glu1441AsnfsTer22) c.4267del (p.Glu1423AsnfsTer22) c.4159del (p.Glu1387AsnfsTer22) c.4192del (p.Glu1398AsnfsTer22) c.4264del (p.Glu1422AsnfsTer22) | dbSNP |
| 3 | g.38556558C>A | CA352145483 | SCN5A | c.4317G>T (p.Trp1439Cys) c.4320G>T (p.Trp1440Cys) c.4266G>T (p.Trp1422Cys) c.4158G>T (p.Trp1386Cys) c.4191G>T (p.Trp1397Cys) c.4263G>T (p.Trp1421Cys) | |
| 3 | g.38556558C= | CA1358563559 | SCN5A | c.4317G= (p.Trp1439=) c.4320G= (p.Trp1440=) c.4266G= (p.Trp1422=) c.4158G= (p.Trp1386=) c.4191G= (p.Trp1397=) c.4263G= (p.Trp1421=) | |
| 3 | g.38556558C>G | CA352145484 | SCN5A | c.4317G>C (p.Trp1439Cys) c.4320G>C (p.Trp1440Cys) c.4266G>C (p.Trp1422Cys) c.4158G>C (p.Trp1386Cys) c.4191G>C (p.Trp1397Cys) c.4263G>C (p.Trp1421Cys) | |
| 3 | g.38556558C>T | CA352145485 | SCN5A | c.4317G>A (p.Trp1439Ter) c.4320G>A (p.Trp1440Ter) c.4266G>A (p.Trp1422Ter) c.4158G>A (p.Trp1386Ter) c.4191G>A (p.Trp1397Ter) c.4263G>A (p.Trp1421Ter) | dbSNP gnomAD v2 |
| 3 | g.38556559C>A | CA352145486 | SCN5A | c.4316G>T (p.Trp1439Leu) c.4319G>T (p.Trp1440Leu) c.4265G>T (p.Trp1422Leu) c.4157G>T (p.Trp1386Leu) c.4190G>T (p.Trp1397Leu) c.4262G>T (p.Trp1421Leu) | |
| 3 | g.38556559C>G | CA352145487 | SCN5A | c.4316G>C (p.Trp1439Ser) c.4319G>C (p.Trp1440Ser) c.4265G>C (p.Trp1422Ser) c.4157G>C (p.Trp1386Ser) c.4190G>C (p.Trp1397Ser) c.4262G>C (p.Trp1421Ser) | |
| 3 | g.38556559C>T | CA352145488 | SCN5A | c.4316G>A (p.Trp1439Ter) c.4319G>A (p.Trp1440Ter) c.4265G>A (p.Trp1422Ter) c.4157G>A (p.Trp1386Ter) c.4190G>A (p.Trp1397Ter) c.4262G>A (p.Trp1421Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556560A= | CA1358563563 | SCN5A | c.4315T= (p.Trp1439=) c.4318T= (p.Trp1440=) c.4264T= (p.Trp1422=) c.4156T= (p.Trp1386=) c.4189T= (p.Trp1397=) c.4261T= (p.Trp1421=) | |
| 3 | g.38556560A>C | CA352145489 | SCN5A | c.4315T>G (p.Trp1439Gly) c.4318T>G (p.Trp1440Gly) c.4264T>G (p.Trp1422Gly) c.4156T>G (p.Trp1386Gly) c.4189T>G (p.Trp1397Gly) c.4261T>G (p.Trp1421Gly) | |
| 3 | g.38556560A>G | CA352145490 | SCN5A | c.4315T>C (p.Trp1439Arg) c.4318T>C (p.Trp1440Arg) c.4264T>C (p.Trp1422Arg) c.4156T>C (p.Trp1386Arg) c.4189T>C (p.Trp1397Arg) c.4261T>C (p.Trp1421Arg) | |
| 3 | g.38556560A>T | CA352145491 | SCN5A | c.4315T>A (p.Trp1439Arg) c.4318T>A (p.Trp1440Arg) c.4264T>A (p.Trp1422Arg) c.4156T>A (p.Trp1386Arg) c.4189T>A (p.Trp1397Arg) c.4261T>A (p.Trp1421Arg) | ClinVar dbSNP |
| 3 | g.38556561C>A | CA352145492 | SCN5A | c.4314G>T (p.Gln1438His) c.4317G>T (p.Gln1439His) c.4263G>T (p.Gln1421His) c.4155G>T (p.Gln1385His) c.4188G>T (p.Gln1396His) c.4260G>T (p.Gln1420His) | |
| 3 | g.38556561C= | CA1358563568 | SCN5A | c.4314G= (p.Gln1438=) c.4317G= (p.Gln1439=) c.4263G= (p.Gln1421=) c.4155G= (p.Gln1385=) c.4188G= (p.Gln1396=) c.4260G= (p.Gln1420=) | |
| 3 | g.38556561C>G | CA063115 | SCN5A | c.4314G>C (p.Gln1438His) c.4317G>C (p.Gln1439His) c.4263G>C (p.Gln1421His) c.4155G>C (p.Gln1385His) c.4188G>C (p.Gln1396His) c.4260G>C (p.Gln1420His) | dbSNP ExAC gnomAD v2 |
| 3 | g.38556561C>T | CA063111 | SCN5A | c.4314G>A (p.Gln1438=) c.4317G>A (p.Gln1439=) c.4263G>A (p.Gln1421=) c.4155G>A (p.Gln1385=) c.4188G>A (p.Gln1396=) c.4260G>A (p.Gln1420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556562T>A | CA352145493 | SCN5A | c.4313A>T (p.Gln1438Leu) c.4316A>T (p.Gln1439Leu) c.4262A>T (p.Gln1421Leu) c.4154A>T (p.Gln1385Leu) c.4187A>T (p.Gln1396Leu) c.4259A>T (p.Gln1420Leu) | |
| 3 | g.38556562T>C | CA352145494 | SCN5A | c.4313A>G (p.Gln1438Arg) c.4316A>G (p.Gln1439Arg) c.4262A>G (p.Gln1421Arg) c.4154A>G (p.Gln1385Arg) c.4187A>G (p.Gln1396Arg) c.4259A>G (p.Gln1420Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556562T>G | CA352145495 | SCN5A | c.4313A>C (p.Gln1438Pro) c.4316A>C (p.Gln1439Pro) c.4262A>C (p.Gln1421Pro) c.4154A>C (p.Gln1385Pro) c.4187A>C (p.Gln1396Pro) c.4259A>C (p.Gln1420Pro) | |
| 3 | g.38556562T= | CA1358563572 | SCN5A | c.4313A= (p.Gln1438=) c.4316A= (p.Gln1439=) c.4262A= (p.Gln1421=) c.4154A= (p.Gln1385=) c.4187A= (p.Gln1396=) c.4259A= (p.Gln1420=) | |
| 3 | g.38556562dup | CA2499216732 | SCN5A | c.4313dup (p.Trp1439ValfsTer?) c.4316dup (p.Trp1440ValfsTer?) c.4262dup (p.Trp1422ValfsTer?) c.4154dup (p.Trp1386ValfsTer?) c.4187dup (p.Trp1397ValfsTer?) c.4259dup (p.Trp1421ValfsTer?) | ClinVar dbSNP |
| 3 | g.38556563G>A | CA352145496 | SCN5A | c.4312C>T (p.Gln1438Ter) c.4315C>T (p.Gln1439Ter) c.4261C>T (p.Gln1421Ter) c.4153C>T (p.Gln1385Ter) c.4186C>T (p.Gln1396Ter) c.4258C>T (p.Gln1420Ter) | dbSNP |
| 3 | g.38556563G>C | CA352145497 | SCN5A | c.4312C>G (p.Gln1438Glu) c.4315C>G (p.Gln1439Glu) c.4261C>G (p.Gln1421Glu) c.4153C>G (p.Gln1385Glu) c.4186C>G (p.Gln1396Glu) c.4258C>G (p.Gln1420Glu) | |
| 3 | g.38556563G= | CA1358563577 | SCN5A | c.4312C= (p.Gln1438=) c.4315C= (p.Gln1439=) c.4261C= (p.Gln1421=) c.4153C= (p.Gln1385=) c.4186C= (p.Gln1396=) c.4258C= (p.Gln1420=) | |
| 3 | g.38556563G>T | CA352145498 | SCN5A | c.4312C>A (p.Gln1438Lys) c.4315C>A (p.Gln1439Lys) c.4261C>A (p.Gln1421Lys) c.4153C>A (p.Gln1385Lys) c.4186C>A (p.Gln1396Lys) c.4258C>A (p.Gln1420Lys) | |
| 3 | g.38556564A>C | CA433136164 | SCN5A | c.4311T>G (p.Pro1437=) c.4314T>G (p.Pro1438=) c.4260T>G (p.Pro1420=) c.4152T>G (p.Pro1384=) c.4185T>G (p.Pro1395=) c.4257T>G (p.Pro1419=) | |
| 3 | g.38556564A>G | CA433136165 | SCN5A | c.4311T>C (p.Pro1437=) c.4314T>C (p.Pro1438=) c.4260T>C (p.Pro1420=) c.4152T>C (p.Pro1384=) c.4185T>C (p.Pro1395=) c.4257T>C (p.Pro1419=) | |
| 3 | g.38556564A>T | CA433136166 | SCN5A | c.4311T>A (p.Pro1437=) c.4314T>A (p.Pro1438=) c.4260T>A (p.Pro1420=) c.4152T>A (p.Pro1384=) c.4185T>A (p.Pro1395=) c.4257T>A (p.Pro1419=) | |
| 3 | g.38556564_38556565delinsAG | CA1358563580 | SCN5A | c.4310_4311delinsCT (p.Pro1437=) c.4313_4314delinsCT (p.Pro1438=) c.4259_4260delinsCT (p.Pro1420=) c.4151_4152delinsCT (p.Pro1384=) c.4184_4185delinsCT (p.Pro1395=) c.4256_4257delinsCT (p.Pro1419=) | |
| 3 | g.38556565G>A | CA018135 | SCN5A | c.4310C>T (p.Pro1437Leu) c.4313C>T (p.Pro1438Leu) c.4259C>T (p.Pro1420Leu) c.4151C>T (p.Pro1384Leu) c.4184C>T (p.Pro1395Leu) c.4256C>T (p.Pro1419Leu) | ClinVar dbSNP |
| 3 | g.38556565G>C | CA352145499 | SCN5A | c.4310C>G (p.Pro1437Arg) c.4313C>G (p.Pro1438Arg) c.4259C>G (p.Pro1420Arg) c.4151C>G (p.Pro1384Arg) c.4184C>G (p.Pro1395Arg) c.4256C>G (p.Pro1419Arg) | |
| 3 | g.38556565G= | CA1358563586 | SCN5A | c.4310C= (p.Pro1437=) c.4313C= (p.Pro1438=) c.4259C= (p.Pro1420=) c.4151C= (p.Pro1384=) c.4184C= (p.Pro1395=) c.4256C= (p.Pro1419=) | |
| 3 | g.38556565G>T | CA352145500 | SCN5A | c.4310C>A (p.Pro1437His) c.4313C>A (p.Pro1438His) c.4259C>A (p.Pro1420His) c.4151C>A (p.Pro1384His) c.4184C>A (p.Pro1395His) c.4256C>A (p.Pro1419His) | |
| 3 | g.38556566del | CA72943359 | SCN5A | c.4310del (p.Pro1437LeufsTer25) c.4313del (p.Pro1438LeufsTer25) c.4259del (p.Pro1420LeufsTer25) c.4151del (p.Pro1384LeufsTer25) c.4184del (p.Pro1395LeufsTer25) c.4256del (p.Pro1419LeufsTer25) | dbSNP |
| 3 | g.38556566G>A | CA352145501 | SCN5A | c.4309C>T (p.Pro1437Ser) c.4312C>T (p.Pro1438Ser) c.4258C>T (p.Pro1420Ser) c.4150C>T (p.Pro1384Ser) c.4183C>T (p.Pro1395Ser) c.4255C>T (p.Pro1419Ser) | ClinVar dbSNP |
| 3 | g.38556566G>C | CA352145502 | SCN5A | c.4309C>G (p.Pro1437Ala) c.4312C>G (p.Pro1438Ala) c.4258C>G (p.Pro1420Ala) c.4150C>G (p.Pro1384Ala) c.4183C>G (p.Pro1395Ala) c.4255C>G (p.Pro1419Ala) | |
| 3 | g.38556566G= | CA1358563590 | SCN5A | c.4309C= (p.Pro1437=) c.4312C= (p.Pro1438=) c.4258C= (p.Pro1420=) c.4150C= (p.Pro1384=) c.4183C= (p.Pro1395=) c.4255C= (p.Pro1419=) | |
| 3 | g.38556566G>T | CA352145503 | SCN5A | c.4309C>A (p.Pro1437Thr) c.4312C>A (p.Pro1438Thr) c.4258C>A (p.Pro1420Thr) c.4150C>A (p.Pro1384Thr) c.4183C>A (p.Pro1395Thr) c.4255C>A (p.Pro1419Thr) | |
| 3 | g.38556567C>A | CA352145505 | SCN5A | c.4308G>T (p.Gln1436His) c.4311G>T (p.Gln1437His) c.4257G>T (p.Gln1419His) c.4149G>T (p.Gln1383His) c.4182G>T (p.Gln1394His) c.4254G>T (p.Gln1418His) | |
| 3 | g.38556567C= | CA1358563594 | SCN5A | c.4308G= (p.Gln1436=) c.4311G= (p.Gln1437=) c.4257G= (p.Gln1419=) c.4149G= (p.Gln1383=) c.4182G= (p.Gln1394=) c.4254G= (p.Gln1418=) | |
| 3 | g.38556567C>G | CA352145504 | SCN5A | c.4308G>C (p.Gln1436His) c.4311G>C (p.Gln1437His) c.4257G>C (p.Gln1419His) c.4149G>C (p.Gln1383His) c.4182G>C (p.Gln1394His) c.4254G>C (p.Gln1418His) | |
| 3 | g.38556567C>T | CA433136169 | SCN5A | c.4308G>A (p.Gln1436=) c.4311G>A (p.Gln1437=) c.4257G>A (p.Gln1419=) c.4149G>A (p.Gln1383=) c.4182G>A (p.Gln1394=) c.4254G>A (p.Gln1418=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556568T>A | CA352145506 | SCN5A | c.4307A>T (p.Gln1436Leu) c.4310A>T (p.Gln1437Leu) c.4256A>T (p.Gln1419Leu) c.4148A>T (p.Gln1383Leu) c.4181A>T (p.Gln1394Leu) c.4253A>T (p.Gln1418Leu) | |
| 3 | g.38556568T>C | CA352145508 | SCN5A | c.4307A>G (p.Gln1436Arg) c.4310A>G (p.Gln1437Arg) c.4256A>G (p.Gln1419Arg) c.4148A>G (p.Gln1383Arg) c.4181A>G (p.Gln1394Arg) c.4253A>G (p.Gln1418Arg) |