| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.27944296C>A | CA346942 | ODAD2 | c.1669G>T (p.Glu557Ter) c.745G>T (p.Glu249Ter) c.244G>T (p.Glu82Ter) c.1533+520G>T (n.1533+520G>T) c.583G>T (p.Glu195Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.27944296C>T | CA5453460 | ODAD2 | c.1669G>A (p.Glu557Lys) c.745G>A (p.Glu249Lys) c.244G>A (p.Glu82Lys) c.1533+520G>A (n.1533+520G>A) c.583G>A (p.Glu195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |