| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551546G>A | CA063800 | SCN5A | c.4823C>T (p.Ser1608Leu) c.4826C>T (p.Ser1609Leu) c.4772C>T (p.Ser1591Leu) c.4664C>T (p.Ser1555Leu) c.4727C>T (p.Ser1576Leu) c.4697C>T (p.Ser1566Leu) c.4769C>T (p.Ser1590Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551546G>T | CA352143146 | SCN5A | c.4823C>A (p.Ser1608Ter) c.4826C>A (p.Ser1609Ter) c.4772C>A (p.Ser1591Ter) c.4664C>A (p.Ser1555Ter) c.4727C>A (p.Ser1576Ter) c.4697C>A (p.Ser1566Ter) c.4769C>A (p.Ser1590Ter) | dbSNP |
| 3 | g.38551546G>C | CA018618 | SCN5A | c.4823C>G (p.Ser1608Trp) c.4826C>G (p.Ser1609Trp) c.4772C>G (p.Ser1591Trp) c.4664C>G (p.Ser1555Trp) c.4727C>G (p.Ser1576Trp) c.4697C>G (p.Ser1566Trp) c.4769C>G (p.Ser1590Trp) | ClinVar dbSNP gnomAD v4 |