| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31086683G>T | CA402112196 | DSC2 | c.406C>A (p.Arg136Ser) c.835C>A (p.Arg279Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.31086683G>A | CA022936 | DSC2 | c.406C>T (p.Arg136Cys) c.835C>T (p.Arg279Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31086683G= | CA2293653730 | DSC2 | c.406C= (p.Arg136=) c.835C= (p.Arg279=) | dbSNP |