| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7585226C>G | CA007330 | DSP | c.6635C>G (p.Ala2212Gly) c.7964C>G (p.Ala2655Gly) c.6167C>G (p.Ala2056Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7585226C>A | CA362694156 | DSP | c.6635C>A (p.Ala2212Asp) c.7964C>A (p.Ala2655Asp) c.6167C>A (p.Ala2056Asp) | ClinVar dbSNP |