| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138733046A>G | CA117293 | ATP6V0A4 | c.1739T>C (p.Met580Thr) c.965T>C (p.Met322Thr) c.632T>C (p.Met211Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138733046A>C | CA369379404 | ATP6V0A4 | c.1739T>G (p.Met580Arg) c.965T>G (p.Met322Arg) c.632T>G (p.Met211Arg) | dbSNP |
| 7 | g.138733046A= | CA1630834986 | ATP6V0A4 | c.1739T= (p.Met580=) c.965T= (p.Met322=) c.632T= (p.Met211=) | dbSNP |
| 7 | g.138733046A>T | CA369379405 | ATP6V0A4 | c.1739T>A (p.Met580Lys) c.965T>A (p.Met322Lys) c.632T>A (p.Met211Lys) | dbSNP |