| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.40054005dup | CA275016 | BCOR | c.4862dup (p.Gly1622ArgfsTer7) c.4760dup (p.Gly1588ArgfsTer7) c.4808dup (p.Gly1604ArgfsTer7) n.987dup c.4706dup (p.Gly1570ArgfsTer7) c.1391dup (p.Gly465ArgfsTer7) c.1472dup (p.Gly492ArgfsTer7) c.825+1368dup c.881dup (p.Gly295ArgfsTer7) | ClinVar dbSNP |
| X | g.40054005del | CA515962729 | BCOR | c.4862del (p.Pro1621GlnfsTer?) c.4760del (p.Pro1587GlnfsTer?) c.4808del (p.Pro1603GlnfsTer?) n.987del c.4706del (p.Pro1569GlnfsTer?) c.1391del (p.Pro464GlnfsTer?) c.1472del (p.Pro491GlnfsTer?) c.825+1368del c.881del (p.Pro294GlnfsTer?) | dbSNP COSMIC COSMIC COSMIC |