| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138739541G>A | CA117295 | ATP6V0A4 | c.1571C>T (p.Pro524Leu) c.797C>T (p.Pro266Leu) c.464C>T (p.Pro155Leu) n.252-5287C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138739541G= | CA1746780019 | ATP6V0A4 | c.1571C= (p.Pro524=) c.797C= (p.Pro266=) c.464C= (p.Pro155=) n.252-5287C= | dbSNP |