| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7566380C>T | CA007889 | DSP | c.943C>T (p.Arg315Cys) n.267C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7566380C>A | CA362674755 | DSP | c.943C>A (p.Arg315Ser) n.267C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7566380C= | CA1608618826 | DSP | c.943C= (p.Arg315=) n.267C= | dbSNP |