| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.40062275G>A | CA327983991 | BCOR | c.4292C>T (p.Ser1431Phe) c.4190C>T (p.Ser1397Phe) c.4238C>T (p.Ser1413Phe) c.4136C>T (p.Ser1379Phe) c.821C>T (p.Ser274Phe) c.902C>T (p.Ser301Phe) c.376C>T c.311C>T (p.Ser104Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.40062275G>T | CA10386468 | BCOR | c.4292C>A (p.Ser1431Tyr) c.4190C>A (p.Ser1397Tyr) c.4238C>A (p.Ser1413Tyr) c.4136C>A (p.Ser1379Tyr) c.821C>A (p.Ser274Tyr) c.902C>A (p.Ser301Tyr) c.376C>A c.311C>A (p.Ser104Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.40062275G= | CA2425440543 | BCOR | c.4292C= (p.Ser1431=) c.4190C= (p.Ser1397=) c.4238C= (p.Ser1413=) c.4136C= (p.Ser1379=) c.821C= (p.Ser274=) c.902C= (p.Ser301=) c.376C= c.311C= (p.Ser104=) | dbSNP |