| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31087781A>G | CA039309 | DSC2 | c.234T>C (p.Tyr78=) c.663T>C (p.Tyr221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.31087781A>T | CA022885 | DSC2 | c.234T>A (p.Tyr78Ter) c.663T>A (p.Tyr221Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31087781A= | CA2293654176 | DSC2 | c.234T= (p.Tyr78=) c.663T= (p.Tyr221=) | dbSNP |