| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.138747514C>T | CA369371533 | ATP6V0A4 | c.1231G>A (p.Asp411Asn) c.457G>A (p.Asp153Asn) c.124G>A (p.Asp42Asn) n.162G>A n.718G>A | dbSNP gnomAD v4 |
| 7 | g.138747514C>A | CA4504840 | ATP6V0A4 | c.1231G>T (p.Asp411Tyr) c.457G>T (p.Asp153Tyr) c.124G>T (p.Asp42Tyr) n.162G>T n.718G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.138747514C= | CA1746783278 | ATP6V0A4 | c.1231G= (p.Asp411=) c.457G= (p.Asp153=) c.124G= (p.Asp42=) n.162G= n.718G= | dbSNP |