| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38613811A>T | CA019670 | SCN5A | c.635T>A (p.Leu212Gln) c.703+164T>A (n.703+164T>A) c.506T>A (p.Leu169Gln) | ClinVar dbSNP |
| 3 | g.38613811A>G | CA019675 | SCN5A | c.635T>C (p.Leu212Pro) c.703+164T>C (n.703+164T>C) c.506T>C (p.Leu169Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38613811A= | CA1358589385 | SCN5A | c.635T= (p.Leu212=) c.703+164T= (n.703+164T=) c.506T= (p.Leu169=) | dbSNP |