| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550527C>A | CA019500 | SCN5A | c.5842G>T (p.Ala1948Ser) c.5845G>T (p.Ala1949Ser) c.5791G>T (p.Ala1931Ser) c.5683G>T (p.Ala1895Ser) c.5746G>T (p.Ala1916Ser) c.5716G>T (p.Ala1906Ser) c.5788G>T (p.Ala1930Ser) | ClinVar dbSNP |
| 3 | g.38550527C>T | CA019498 | SCN5A | c.5842G>A (p.Ala1948Thr) c.5845G>A (p.Ala1949Thr) c.5791G>A (p.Ala1931Thr) c.5683G>A (p.Ala1895Thr) c.5746G>A (p.Ala1916Thr) c.5716G>A (p.Ala1906Thr) c.5788G>A (p.Ala1930Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |