| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403703C>G | CA10385899 | OTC | c.626C>G (p.Ala209Gly) c.*376C>G (n.*376C>G) c.172-262418C>G (n.172-262418C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38403703C>A | CA412725756 | OTC | c.626C>A (p.Ala209Glu) c.*376C>A (n.*376C>A) c.172-262418C>A (n.172-262418C>A) | ClinVar dbSNP |
| X | g.38403703C>T | CA224717 | OTC | c.626C>T (p.Ala209Val) c.*376C>T (n.*376C>T) c.172-262418C>T (n.172-262418C>T) | ClinVar dbSNP COSMIC |