| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7585738C>G | CA362695227 | DSP | c.7147C>G (p.Arg2383Gly) c.8476C>G (p.Arg2826Gly) c.6679C>G (p.Arg2227Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7585738C>A | CA362695226 | DSP | c.7147C>A (p.Arg2383Ser) c.8476C>A (p.Arg2826Ser) c.6679C>A (p.Arg2227Ser) | ClinVar dbSNP |
| 6 | g.7585738C>T | CA007610 | DSP | c.7147C>T (p.Arg2383Cys) c.8476C>T (p.Arg2826Cys) c.6679C>T (p.Arg2227Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |