| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.40053931dup | CA10386346 | BCOR | c.4936dup (p.Leu1646ProfsTer6) c.4834dup (p.Leu1612ProfsTer6) c.4882dup (p.Leu1628ProfsTer6) n.1061dup c.4780dup (p.Leu1594ProfsTer6) c.1465dup (p.Leu489ProfsTer6) c.1546dup (p.Leu516ProfsTer6) c.825+1442dup c.955dup (p.Leu319ProfsTer6) | ClinVar dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.40053931del | CA1139770881 | BCOR | c.4936del (p.Leu1646SerfsTer28) c.4834del (p.Leu1612SerfsTer28) c.4882del (p.Leu1628SerfsTer28) c.4936del (p.Leu1646SerfsTer24) n.1061del c.4780del (p.Leu1594SerfsTer28) c.1465del (p.Leu489SerfsTer28) c.1546del (p.Leu516SerfsTer28) c.825+1442del c.955del (p.Leu319SerfsTer24) | dbSNP |