Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560175C>G | CA352146254 | SCN5A | c.4214G>C (p.Gly1405Ala) c.4217G>C (p.Gly1406Ala) c.4055G>C (p.Gly1352Ala) c.4088G>C (p.Gly1363Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560175C>T | CA017969 | SCN5A | c.4214G>A (p.Gly1405Glu) c.4217G>A (p.Gly1406Glu) c.4055G>A (p.Gly1352Glu) c.4088G>A (p.Gly1363Glu) | ClinVar dbSNP gnomAD v4 |