| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582817G>A | CA006544 | DSP | c.4226G>A (p.Arg1409His) c.5555G>A (p.Arg1852His) c.3758G>A (p.Arg1253His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7582817G>T | CA362688880 | DSP | c.4226G>T (p.Arg1409Leu) c.5555G>T (p.Arg1852Leu) c.3758G>T (p.Arg1253Leu) | ClinVar dbSNP |
| 6 | g.7582817G= | CA1608623618 | DSP | c.4226G= (p.Arg1409=) c.5555G= (p.Arg1852=) c.3758G= (p.Arg1253=) | dbSNP |