| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408987C>T | CA255648 | OTC | c.829C>T (p.Arg277Trp) c.*579C>T (n.*579C>T) c.172-257134C>T (n.172-257134C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.38408987C>A | CA515642334 | OTC | c.829C>A (p.Arg277=) c.*579C>A (n.*579C>A) c.172-257134C>A (n.172-257134C>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.38408987C= | CA2424884380 | OTC | c.829C= (p.Arg277=) c.*579C= (n.*579C=) c.172-257134C= (n.172-257134C=) | dbSNP |