| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.40074570G>A | CA412748000 | BCOR | c.776C>T (p.Ser259Leu) n.816C>T c.22-1025C>T (n.22-1025C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.40074570G>T | CA233537 | BCOR | c.776C>A (p.Ser259Ter) n.816C>A c.22-1025C>A (n.22-1025C>A) | ClinVar dbSNP |
| X | g.40074570G= | CA2425444792 | BCOR | c.776C= (p.Ser259=) n.816C= c.22-1025C= (n.22-1025C=) | dbSNP |