| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31089462G>A | CA022869 | DSC2 | c.178C>T (p.Arg60Cys) c.607C>T (p.Arg203Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 18 | g.31089462G>T | CA402113416 | DSC2 | c.178C>A (p.Arg60Ser) c.607C>A (p.Arg203Ser) | dbSNP gnomAD v4 |
| 18 | g.31089462G= | CA2293654930 | DSC2 | c.178C= (p.Arg60=) c.607C= (p.Arg203=) | dbSNP |