| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38421045C>A | CA224441 | OTC | c.1028C>A (p.Thr343Lys) c.*778C>A (n.*778C>A) c.172-245076C>A (n.172-245076C>A) | ClinVar dbSNP |
| X | g.38421045C>G | CA412728048 | OTC | c.1028C>G (p.Thr343Arg) c.*778C>G (n.*778C>G) c.172-245076C>G (n.172-245076C>G) | ClinVar dbSNP |
| X | g.38421045C>T | CA412728049 | OTC | c.1028C>T (p.Thr343Ile) c.*778C>T (n.*778C>T) c.172-245076C>T (n.172-245076C>T) | ClinVar dbSNP gnomAD v4 |
| X | g.38421045C= | CA2424888115 | OTC | c.1028C= (p.Thr343=) c.*778C= (n.*778C=) c.172-245076C= (n.172-245076C=) | dbSNP |