| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286657G>A | CA16042012 | AIRE | c.233G>A (p.Trp78Ter) n.394G>A n.402G>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.44286657G= | CA2391565212 | AIRE | c.233G= (p.Trp78=) n.394G= n.402G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.44286657G>A | CA16042012 | AIRE | c.233G>A (p.Trp78Ter) n.394G>A n.402G>A | ClinVar dbSNP gnomAD v4 |
| 21 | g.44286657G= | CA2391565212 | AIRE | c.233G= (p.Trp78=) n.394G= n.402G= | dbSNP |