| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38604057_38604083dup | CA542615631 | SCN5A | c.1520_1546dup (p.Leu515_Ser516insAsnHisLeuSerLeuThrArgGlyLeu) c.1391_1417dup (p.Leu472_Ser473insAsnHisLeuSerLeuThrArgGlyLeu) | dbSNP gnomAD v2 |
| 3 | g.38604062C>A | CA014960 | SCN5A | c.1540G>T (p.Gly514Cys) c.1411G>T (p.Gly471Cys) | ClinVar dbSNP |
| 3 | g.38604062C= | CA1358585042 | SCN5A | c.1540G= (p.Gly514=) c.1411G= (p.Gly471=) | |
| 3 | g.38604062C>G | CA352147533 | SCN5A | c.1540G>C (p.Gly514Arg) c.1411G>C (p.Gly471Arg) | |
| 3 | g.38604062C>T | CA352147531 | SCN5A | c.1540G>A (p.Gly514Ser) c.1411G>A (p.Gly471Ser) | gnomAD v4 |
| 3 | g.38604063A= | CA1358585043 | SCN5A | c.1539T= (p.Arg513=) c.1410T= (p.Arg470=) | |
| 3 | g.38604063A>C | CA433333374 | SCN5A | c.1539T>G (p.Arg513=) c.1410T>G (p.Arg470=) | dbSNP |
| 3 | g.38604063A>G | CA72939354 | SCN5A | c.1539T>C (p.Arg513=) c.1410T>C (p.Arg470=) | ClinVar dbSNP |
| 3 | g.38604063A>T | CA433333377 | SCN5A | c.1539T>A (p.Arg513=) c.1410T>A (p.Arg470=) | |
| 3 | g.38604064C>A | CA352147535 | SCN5A | c.1538G>T (p.Arg513Leu) c.1409G>T (p.Arg470Leu) | gnomAD v4 |
| 3 | g.38604064C= | CA1358585044 | SCN5A | c.1538G= (p.Arg513=) c.1409G= (p.Arg470=) | |
| 3 | g.38604064C>G | CA352147537 | SCN5A | c.1538G>C (p.Arg513Pro) c.1409G>C (p.Arg470Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604064C>T | CA014950 | SCN5A | c.1538G>A (p.Arg513His) c.1409G>A (p.Arg470His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604065G>A | CA014941 | SCN5A | c.1537C>T (p.Arg513Cys) c.1408C>T (p.Arg470Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38604065G>C | CA352147539 | SCN5A | c.1537C>G (p.Arg513Gly) c.1408C>G (p.Arg470Gly) | |
| 3 | g.38604065G= | CA1358585045 | SCN5A | c.1537C= (p.Arg513=) c.1408C= (p.Arg470=) | |
| 3 | g.38604065G>T | CA352147538 | SCN5A | c.1537C>A (p.Arg513Ser) c.1408C>A (p.Arg470Ser) | gnomAD v4 |
| 3 | g.38604067del | CA2586971916 | SCN5A | c.1537del (p.Arg513ValfsTer8) c.1408del (p.Arg470ValfsTer8) | gnomAD v4 |
| 3 | g.38604066G>A | CA433333382 | SCN5A | c.1536C>T (p.Thr512=) c.1407C>T (p.Thr469=) | |
| 3 | g.38604066G>C | CA433333384 | SCN5A | c.1536C>G (p.Thr512=) c.1407C>G (p.Thr469=) | |
| 3 | g.38604066G>T | CA433333386 | SCN5A | c.1536C>A (p.Thr512=) c.1407C>A (p.Thr469=) | gnomAD v4 |
| 3 | g.38604067G>A | CA014930 | SCN5A | c.1535C>T (p.Thr512Ile) c.1406C>T (p.Thr469Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38604067G>C | CA352147543 | SCN5A | c.1535C>G (p.Thr512Ser) c.1406C>G (p.Thr469Ser) | |
| 3 | g.38604067G= | CA1358585046 | SCN5A | c.1535C= (p.Thr512=) c.1406C= (p.Thr469=) | |
| 3 | g.38604067G>T | CA352147544 | SCN5A | c.1535C>A (p.Thr512Asn) c.1406C>A (p.Thr469Asn) | |
| 3 | g.38604068T>A | CA352147547 | SCN5A | c.1534A>T (p.Thr512Ser) c.1405A>T (p.Thr469Ser) | gnomAD v4 |
| 3 | g.38604068T>C | CA352147548 | SCN5A | c.1534A>G (p.Thr512Ala) c.1405A>G (p.Thr469Ala) | |
| 3 | g.38604068T>G | CA352147549 | SCN5A | c.1534A>C (p.Thr512Pro) c.1405A>C (p.Thr469Pro) | dbSNP |
| 3 | g.38604068T= | CA1358585047 | SCN5A | c.1534A= (p.Thr512=) c.1405A= (p.Thr469=) | |
| 3 | g.38604069G>A | CA433333392 | SCN5A | c.1533C>T (p.Leu511=) c.1404C>T (p.Leu468=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38604069G>C | CA433333396 | SCN5A | c.1533C>G (p.Leu511=) c.1404C>G (p.Leu468=) | |
| 3 | g.38604069G= | CA1358585048 | SCN5A | c.1533C= (p.Leu511=) c.1404C= (p.Leu468=) | |
| 3 | g.38604069G>T | CA433333398 | SCN5A | c.1533C>A (p.Leu511=) c.1404C>A (p.Leu468=) | gnomAD v4 |
| 3 | g.38604070A>C | CA352147552 | SCN5A | c.1532T>G (p.Leu511Arg) c.1403T>G (p.Leu468Arg) | |
| 3 | g.38604070A>G | CA352147553 | SCN5A | c.1532T>C (p.Leu511Pro) c.1403T>C (p.Leu468Pro) | gnomAD v4 |
| 3 | g.38604070A>T | CA352147555 | SCN5A | c.1532T>A (p.Leu511His) c.1403T>A (p.Leu468His) | |
| 3 | g.38604071G>A | CA352147558 | SCN5A | c.1531C>T (p.Leu511Phe) c.1402C>T (p.Leu468Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38604071G>C | CA352147559 | SCN5A | c.1531C>G (p.Leu511Val) c.1402C>G (p.Leu468Val) | gnomAD v4 |
| 3 | g.38604071G= | CA1358585049 | SCN5A | c.1531C= (p.Leu511=) c.1402C= (p.Leu468=) | |
| 3 | g.38604071G>T | CA352147560 | SCN5A | c.1531C>A (p.Leu511Ile) c.1402C>A (p.Leu468Ile) | gnomAD v4 |
| 3 | g.38604072G>A | CA433333404 | SCN5A | c.1530C>T (p.Ser510=) c.1401C>T (p.Ser467=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38604072G>C | CA352147563 | SCN5A | c.1530C>G (p.Ser510Arg) c.1401C>G (p.Ser467Arg) | |
| 3 | g.38604072G= | CA1358585050 | SCN5A | c.1530C= (p.Ser510=) c.1401C= (p.Ser467=) | |
| 3 | g.38604072G>T | CA352147561 | SCN5A | c.1530C>A (p.Ser510Arg) c.1401C>A (p.Ser467Arg) | |
| 3 | g.38604073C>A | CA352147564 | SCN5A | c.1529G>T (p.Ser510Ile) c.1400G>T (p.Ser467Ile) | gnomAD v4 |
| 3 | g.38604073C= | CA1358585051 | SCN5A | c.1529G= (p.Ser510=) c.1400G= (p.Ser467=) | |
| 3 | g.38604073C>G | CA352147565 | SCN5A | c.1529G>C (p.Ser510Thr) c.1400G>C (p.Ser467Thr) | gnomAD v4 |
| 3 | g.38604073C>T | CA352147567 | SCN5A | c.1529G>A (p.Ser510Asn) c.1400G>A (p.Ser467Asn) | dbSNP gnomAD v2 |
| 3 | g.38604074T>A | CA352147569 | SCN5A | c.1528A>T (p.Ser510Cys) c.1399A>T (p.Ser467Cys) | |
| 3 | g.38604074T>C | CA352147570 | SCN5A | c.1528A>G (p.Ser510Gly) c.1399A>G (p.Ser467Gly) | COSMIC COSMIC COSMIC |