Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.40064370del | CA223271 | BCOR | c.3468del (p.Leu1157CysfsTer2) c.3414del (p.Leu1139CysfsTer2) c.99del (p.Leu34CysfsTer2) c.180del (p.Leu61CysfsTer2) | ClinVar dbSNP |
X | g.40064370A= | CA3065057059 | BCOR | c.3468T= (p.Pro1156=) c.3414T= (p.Pro1138=) c.99T= (p.Pro33=) c.180T= (p.Pro60=) | dbSNP dbSNP |