| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138739606A>T | CA117296 | ATP6V0A4 | c.1506T>A (p.Tyr502Ter) c.732T>A (p.Tyr244Ter) c.399T>A (p.Tyr133Ter) n.252-5352T>A | ClinVar dbSNP |
| 7 | g.138739606A= | CA1746780040 | ATP6V0A4 | c.1506T= (p.Tyr502=) c.732T= (p.Tyr244=) c.399T= (p.Tyr133=) n.252-5352T= | dbSNP |