| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.123754537C>T | CA339834 | ATP6V0A2 | c.2293C>T (p.Gln765Ter) n.2324C>T c.2381C>T c.*1314C>T (n.*1314C>T) c.133C>T (p.Gln45Ter) c.139C>T (p.Gln47Ter) c.2173C>T (p.Gln725Ter) c.1780C>T (p.Gln594Ter) c.1471C>T (p.Gln491Ter) n.2456C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.123754537C= | CA2069003686 | ATP6V0A2 | c.2293C= (p.Gln765=) n.2324C= c.2381C= c.*1314C= (n.*1314C=) c.133C= (p.Gln45=) c.139C= (p.Gln47=) c.2173C= (p.Gln725=) c.1780C= (p.Gln594=) c.1471C= (p.Gln491=) n.2456C= | dbSNP |