| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7584885dup | CA565358158 | DSP | c.6294dup (p.Lys2099GlufsTer4) c.7623dup (p.Lys2542GlufsTer4) c.5826dup (p.Lys1943GlufsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584885del | CA007248 | DSP | c.6294del (p.Lys2099SerfsTer19) c.7623del (p.Lys2542SerfsTer19) c.5826del (p.Lys1943SerfsTer19) | ClinVar dbSNP |