| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.139454406C>T | CA358271927 | RAB33B | c.211C>T (p.Arg71Ter) c.355C>T (p.Arg119Ter) | ClinVar dbSNP |
| 4 | g.139454406C>G | CA358271926 | RAB33B | c.211C>G (p.Arg71Gly) c.355C>G (p.Arg119Gly) | dbSNP gnomAD v2 gnomAD v4 |