| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7585763G>A | CA007679 | DSP | c.7172G>A (p.Arg2391His) c.8501G>A (p.Arg2834His) c.6704G>A (p.Arg2235His) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7585763G>T | CA362695269 | DSP | c.7172G>T (p.Arg2391Leu) c.8501G>T (p.Arg2834Leu) c.6704G>T (p.Arg2235Leu) | dbSNP gnomAD v4 |
| 6 | g.7585763G= | CA1608615758 | DSP | c.7172G= (p.Arg2391=) c.8501G= (p.Arg2834=) c.6704G= (p.Arg2235=) | dbSNP |