| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138771243A>G | CA4505278 | ATP6V0A4 | c.5T>C (p.Val2Ala) n.254T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138771243A>C | CA369380208 | ATP6V0A4 | c.5T>G (p.Val2Gly) n.254T>G | dbSNP gnomAD v4 |
| 7 | g.138771243A>T | CA369380207 | ATP6V0A4 | c.5T>A (p.Val2Glu) n.254T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138771243A= | CA1630834981 | ATP6V0A4 | c.5T= (p.Val2=) n.254T= | dbSNP |