| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.17600079A>G | CA16616866 | ATP6V1E1 | c.383T>C (p.Leu128Pro) c.293T>C (p.Leu98Pro) c.317T>C (p.Leu106Pro) c.386T>C (p.Leu129Pro) n.352T>C | ClinVar dbSNP |
| 22 | g.17600079A= | CA2395169633 | ATP6V1E1 | c.383T= (p.Leu128=) c.293T= (p.Leu98=) c.317T= (p.Leu106=) c.386T= (p.Leu129=) n.352T= | dbSNP |