| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286684del | CA16042014 | AIRE | c.260del (p.Leu87ArgfsTer?) n.421del n.429del | ClinVar dbSNP gnomAD v4 |
| 21 | g.44286684T= | CA2391565224 | AIRE | c.260T= (p.Leu87=) n.421T= n.429T= | dbSNP dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286684del | CA16042014 | AIRE | c.260del (p.Leu87ArgfsTer?) n.421del n.429del | ClinVar dbSNP gnomAD v4 |
| 21 | g.44286684T= | CA2391565224 | AIRE | c.260T= (p.Leu87=) n.421T= n.429T= | dbSNP dbSNP |