| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408953G>A | CA224796 | OTC | c.795G>A (p.Trp265Ter) c.*545G>A (n.*545G>A) c.172-257168G>A (n.172-257168G>A) | ClinVar dbSNP COSMIC |
| X | g.38408953G>T | CA412723016 | OTC | c.795G>T (p.Trp265Cys) c.*545G>T (n.*545G>T) c.172-257168G>T (n.172-257168G>T) | dbSNP gnomAD v4 |
| X | g.38408953G= | CA2424884365 | OTC | c.795G= (p.Trp265=) c.*545G= (n.*545G=) c.172-257168G= (n.172-257168G=) | dbSNP |