| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550362A>G | CA019578 | SCN5A | c.6007T>C (p.Phe2003Leu) c.6010T>C (p.Phe2004Leu) c.5956T>C (p.Phe1986Leu) c.5848T>C (p.Phe1950Leu) c.5911T>C (p.Phe1971Leu) c.5881T>C (p.Phe1961Leu) c.5953T>C (p.Phe1985Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550362A>T | CA065172 | SCN5A | c.6007T>A (p.Phe2003Ile) c.6010T>A (p.Phe2004Ile) c.5956T>A (p.Phe1986Ile) c.5848T>A (p.Phe1950Ile) c.5911T>A (p.Phe1971Ile) c.5881T>A (p.Phe1961Ile) c.5953T>A (p.Phe1985Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550362A>C | CA019582 | SCN5A | c.6007T>G (p.Phe2003Val) c.6010T>G (p.Phe2004Val) c.5956T>G (p.Phe1986Val) c.5848T>G (p.Phe1950Val) c.5911T>G (p.Phe1971Val) c.5881T>G (p.Phe1961Val) c.5953T>G (p.Phe1985Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |