| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7566428C>T | CA007905 | DSP | c.991C>T (p.Gln331Ter) n.315C>T | ClinVar dbSNP |
| 6 | g.7566428C>G | CA362674859 | DSP | c.991C>G (p.Gln331Glu) n.315C>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7566428C= | CA1608618970 | DSP | c.991C= (p.Gln331=) n.315C= | dbSNP |