| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7562999T>C | CA1608614340 | DSP | c.726+219T>C (n.726+219T>C) n.244+219T>C | dbSNP |
| 6 | g.7562999T>A | CA1608614339 | DSP | c.726+219T>A (n.726+219T>A) n.244+219T>A | dbSNP |
| 6 | g.7562999T>G | CA12223689 | DSP | c.726+219T>G (n.726+219T>G) n.244+219T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7562999T= | CA1608614338 | DSP | c.726+219T= (n.726+219T=) n.244+219T= | dbSNP |