| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411860A>T | CA16621370 | OTC | c.868-2A>T (n.868-2A>T) c.*618-2A>T (n.*618-2A>T) c.172-254261A>T (n.172-254261A>T) c.935A>T (p.Ter312Leu) | ClinVar dbSNP |
| X | g.38411860A= | CA2424885199 | OTC | c.868-2A= (n.868-2A=) c.*618-2A= (n.*618-2A=) c.172-254261A= (n.172-254261A=) c.935A= (p.Ter312=) | dbSNP |