| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.31082378G>A | CA16616735 | DSC2 | c.694C>T (p.Arg232Ter) c.1123C>T (p.Arg375Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.31082378G>C | CA022415 | DSC2 | c.694C>G (p.Arg232Gly) c.1123C>G (p.Arg375Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.31082378G= | CA2293651887 | DSC2 | c.694C= (p.Arg232=) c.1123C= (p.Arg375=) | dbSNP |