| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210579729G>T | CA10604579 | CPS1 | c.487G>T (p.Gly163Ter) c.505G>T (p.Gly169Ter) n.372G>T c.520G>T (p.Gly174Ter) n.1399G>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.210579729G>A | CA2086045 | CPS1 | c.487G>A (p.Gly163Arg) c.505G>A (p.Gly169Arg) n.372G>A c.520G>A (p.Gly174Arg) n.1399G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |