| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38581002C>A | CA352139250 | SCN5A | c.3157G>T (p.Glu1053Ter) c.3028G>T (p.Glu1010Ter) | ClinVar dbSNP |
| 3 | g.38581002C>T | CA016871 | SCN5A | c.3157G>A (p.Glu1053Lys) c.3028G>A (p.Glu1010Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581002C>G | CA352139252 | SCN5A | c.3157G>C (p.Glu1053Gln) c.3028G>C (p.Glu1010Gln) | dbSNP |
| 3 | g.38581002C= | CA1358576262 | SCN5A | c.3157G= (p.Glu1053=) c.3028G= (p.Glu1010=) | dbSNP |