| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138715764G>A | CA117286 | ATP6V0A4 | c.2257C>T (p.Gln753Ter) c.1365+6133C>T (n.1365+6133C>T) c.1483C>T (p.Gln495Ter) c.1033-5969C>T (n.1033-5969C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138715764G= | CA1746768398 | ATP6V0A4 | c.2257C= (p.Gln753=) c.1365+6133C= (n.1365+6133C=) c.1483C= (p.Gln495=) c.1033-5969C= (n.1033-5969C=) | dbSNP |