| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403694T>G | CA224711 | OTC | c.617T>G (p.Met206Arg) c.*367T>G (n.*367T>G) c.172-262427T>G (n.172-262427T>G) | ClinVar dbSNP |
| X | g.38403694T>A | CA412725677 | OTC | c.617T>A (p.Met206Lys) c.*367T>A (n.*367T>A) c.172-262427T>A (n.172-262427T>A) | ClinVar dbSNP |
| X | g.38403694T= | CA2424882729 | OTC | c.617T= (p.Met206=) c.*367T= (n.*367T=) c.172-262427T= (n.172-262427T=) | dbSNP |
| X | g.38403694T>C | CA412725680 | OTC | c.617T>C (p.Met206Thr) c.*367T>C (n.*367T>C) c.172-262427T>C (n.172-262427T>C) | ClinVar dbSNP |