| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38381417C>T | CA211702 | OTC | c.374C>T (p.Thr125Met) c.*124C>T (n.*124C>T) c.172-284704C>T (n.172-284704C>T) n.411C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.38381417C= | CA2424875287 | OTC | c.374C= (p.Thr125=) c.*124C= (n.*124C=) c.172-284704C= (n.172-284704C=) n.411C= | dbSNP |