| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7581012C>T | CA16612040 | DSP | c.4050+772C>T (n.4050+772C>T) c.4822C>T (p.Gln1608Ter) c.3582+1240C>T (n.3582+1240C>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7581012C>A | CA362687230 | DSP | c.4050+772C>A (n.4050+772C>A) c.4822C>A (p.Gln1608Lys) c.3582+1240C>A (n.3582+1240C>A) | dbSNP |