| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31071792A>C | CA022592 | DSC2 | c.1509T>G (p.Tyr503Ter) c.1938T>G (p.Tyr646Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31071792A>G | CA16607905 | DSC2 | c.1509T>C (p.Tyr503=) c.1938T>C (p.Tyr646=) | ClinVar dbSNP gnomAD v4 |
| 18 | g.31071792A= | CA2293647143 | DSC2 | c.1509T= (p.Tyr503=) c.1938T= (p.Tyr646=) | dbSNP |