| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.40202609G>A | CA118500 | BUB1B | c.1649G>A (p.Arg550Gln) c.1691G>A (p.Arg564Gln) n.454G>A c.761G>A n.218-22408C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.40202609G= | CA2171669167 | BUB1B | c.1649G= (p.Arg550=) c.1691G= (p.Arg564=) n.454G= c.761G= n.218-22408C= | dbSNP |