| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7585042del | CA007274 | DSP | c.6451del (p.Ser2151ProfsTer9) c.7780del (p.Ser2594ProfsTer9) c.5983del (p.Ser1995ProfsTer9) | ClinVar dbSNP |
| 6 | g.7585042dup | CA2580075383 | DSP | c.6451dup (p.Ser2151PhefsTer?) c.7780dup (p.Ser2594PhefsTer?) c.5983dup (p.Ser1995PhefsTer?) | ClinVar dbSNP |