| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.210647986C>G | CA350436195 | CPS1 | c.3265C>G (p.Arg1089Gly) c.3283C>G (p.Arg1095Gly) c.1912C>G (p.Arg638Gly) c.1745C>G n.2410C>G c.3298C>G (p.Arg1100Gly) n.4174C>G n.2421C>G | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.210647986C>T | CA350436193 | CPS1 | c.3265C>T (p.Arg1089Cys) c.3283C>T (p.Arg1095Cys) c.1912C>T (p.Arg638Cys) c.1745C>T n.2410C>T c.3298C>T (p.Arg1100Cys) n.4174C>T n.2421C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |