| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38369860G>C | CA224537 | OTC | c.281G>C (p.Arg94Thr) c.172-296261G>C (n.172-296261G>C) n.353+20G>C | ClinVar dbSNP |
| X | g.38369860G= | CA2424871687 | OTC | c.281G= (p.Arg94=) c.172-296261G= (n.172-296261G=) n.353+20G= | dbSNP |
| X | g.38369860G>A | CA412717010 | OTC | c.281G>A (p.Arg94Lys) c.172-296261G>A (n.172-296261G>A) n.353+20G>A | dbSNP gnomAD v4 |