| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124397951C>G | CA113946 | OAT | c.1311G>C (p.Leu437Phe) c.897G>C (p.Leu299Phe) c.990G>C (p.Leu330Phe) c.711G>C (p.Leu237Phe) | ClinVar dbSNP |
| 10 | g.124397951C>A | CA144141 | OAT | c.1311G>T (p.Leu437Phe) c.897G>T (p.Leu299Phe) c.990G>T (p.Leu330Phe) c.711G>T (p.Leu237Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124397951C>T | CA5733271 | OAT | c.1311G>A (p.Leu437=) c.897G>A (p.Leu299=) c.990G>A (p.Leu330=) c.711G>A (p.Leu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |