Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.38411900C>G | CA224828 | OTC | c.906C>G (p.His302Gln) c.*656C>G (n.*656C>G) c.172-254221C>G (n.172-254221C>G) | ClinVar dbSNP gnomAD v4 |
X | g.38411900C>T | CA515642700 | OTC | c.906C>T (p.His302=) c.*656C>T (n.*656C>T) c.172-254221C>T (n.172-254221C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |