| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138706689C>T | CA117288 | ATP6V0A4 | c.2458G>A (p.Gly820Arg) c.*23G>A (n.*23G>A) c.1684G>A (p.Gly562Arg) c.1233G>A (n.1233G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138706689C>G | CA369373931 | ATP6V0A4 | c.2458G>C (p.Gly820Arg) c.*23G>C (n.*23G>C) c.1684G>C (p.Gly562Arg) c.1233G>C (n.1233G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |