| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31086672G>T | CA297639655 | DSC2 | c.417C>A (p.Tyr139Ter) c.846C>A (p.Tyr282Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31086672G>C | CA022947 | DSC2 | c.417C>G (p.Tyr139Ter) c.846C>G (p.Tyr282Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31086672G>A | CA503388551 | DSC2 | c.417C>T (p.Tyr139=) c.846C>T (p.Tyr282=) | dbSNP gnomAD v4 |
| 18 | g.31086672G= | CA2293653725 | DSC2 | c.417C= (p.Tyr139=) c.846C= (p.Tyr282=) | dbSNP |