| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38557268C>T | CA018056 | SCN5A | c.4259G>A (p.Trp1420Ter) c.4262G>A (p.Trp1421Ter) c.4246-690G>A (n.4246-690G>A) c.4100G>A (p.Trp1367Ter) c.4133G>A (p.Trp1378Ter) c.4243-690G>A (n.4243-690G>A) | ClinVar dbSNP |
| 3 | g.38557268C>G | CA352145623 | SCN5A | c.4259G>C (p.Trp1420Ser) c.4262G>C (p.Trp1421Ser) c.4246-690G>C (n.4246-690G>C) c.4100G>C (p.Trp1367Ser) c.4133G>C (p.Trp1378Ser) c.4243-690G>C (n.4243-690G>C) | dbSNP |
| 3 | g.38557268C= | CA1358564192 | SCN5A | c.4259G= (p.Trp1420=) c.4262G= (p.Trp1421=) c.4246-690G= (n.4246-690G=) c.4100G= (p.Trp1367=) c.4133G= (p.Trp1378=) c.4243-690G= (n.4243-690G=) | dbSNP |