| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38613781C>T | CA019704 | SCN5A | c.665G>A (p.Arg222Gln) c.703+194G>A (n.703+194G>A) c.536G>A (p.Arg179Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38613781C>A | CA352151562 | SCN5A | c.665G>T (p.Arg222Leu) c.703+194G>T (n.703+194G>T) c.536G>T (p.Arg179Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38613781C= | CA1358589372 | SCN5A | c.665G= (p.Arg222=) c.703+194G= (n.703+194G=) c.536G= (p.Arg179=) | dbSNP |
| 3 | g.38613781C>G | CA352151564 | SCN5A | c.665G>C (p.Arg222Pro) c.703+194G>C (n.703+194G>C) c.536G>C (p.Arg179Pro) | dbSNP |