Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38557271C>A | CA018048 | SCN5A | c.4256G>T (p.Gly1419Val) c.4259G>T (p.Gly1420Val) c.4246-693G>T (n.4246-693G>T) c.4097G>T (p.Gly1366Val) c.4130G>T (p.Gly1377Val) c.4243-693G>T (n.4243-693G>T) | ClinVar dbSNP |
3 | g.38557271C>G | CA352145628 | SCN5A | c.4256G>C (p.Gly1419Ala) c.4259G>C (p.Gly1420Ala) c.4246-693G>C (n.4246-693G>C) c.4097G>C (p.Gly1366Ala) c.4130G>C (p.Gly1377Ala) c.4243-693G>C (n.4243-693G>C) | dbSNP gnomAD v3 gnomAD v4 |