| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.12996565dup | CA117234 | ELAC2 | c.1641dup (p.His548AlafsTer?) c.1584dup (p.His529AlafsTer?) c.1521dup (p.His508AlafsTer?) n.960dup n.1470dup n.1903dup n.1187dup n.218dup n.448dup c.1040dup c.1638dup (p.His547AlafsTer?) c.1722dup (p.His575AlafsTer?) c.1602dup (p.His535AlafsTer?) c.1440dup (p.His481AlafsTer?) c.1359dup (p.His454AlafsTer?) c.1356dup (p.His453AlafsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.12996565C= | CA2248386511 | ELAC2 | c.1641G= (p.Leu547=) c.1584G= (p.Leu528=) c.1521G= (p.Leu507=) n.960G= n.1470G= n.1903G= n.1187G= n.218G= n.448G= c.1040G= c.1638G= (p.Leu546=) c.1722G= (p.Leu574=) c.1602G= (p.Leu534=) c.1440G= (p.Leu480=) c.1359G= (p.Leu453=) c.1356G= (p.Leu452=) | dbSNP dbSNP |