| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138762983G>C | CA4505155 | ATP6V0A4 | c.334C>G (p.Gln112Glu) n.583C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138762983G>A | CA4505156 | ATP6V0A4 | c.334C>T (p.Gln112Ter) n.583C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.138762983G= | CA1746790651 | ATP6V0A4 | c.334C= (p.Gln112=) n.583C= | dbSNP |