| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43091945dup | CA002286 | BRCA1 | n.3650dup c.3586dup (p.Thr1196AsnfsTer23) c.3460dup (p.Thr1154AsnfsTer23) c.3583dup (p.Thr1195AsnfsTer23) c.3508dup (p.Thr1170AsnfsTer23) c.785-913dup (n.785-913dup) c.647-913dup (n.647-913dup) c.2698dup (p.Thr900AsnfsTer23) c.3463dup (p.Thr1155AsnfsTer23) c.3445dup (p.Thr1149AsnfsTer23) c.665-913dup (n.665-913dup) c.707-913dup (n.707-913dup) c.671-913dup (n.671-913dup) c.*3369dup (n.*3369dup) c.788-913dup (n.788-913dup) c.410-913dup (n.410-913dup) c.413-913dup (n.413-913dup) c.5-27994dup (n.5-27994dup) c.-43-17424dup (n.-43-17424dup) c.-99+33326dup (n.-99+33326dup) n.3722dup n.3763dup | ClinVar dbSNP |
| 17 | g.43091945T= | CA2260782450 | BRCA1 | n.3650A= c.3586A= (p.Thr1196=) c.3460A= (p.Thr1154=) c.3583A= (p.Thr1195=) c.3508A= (p.Thr1170=) c.785-913A= (n.785-913A=) c.647-913A= (n.647-913A=) c.2698A= (p.Thr900=) c.3463A= (p.Thr1155=) c.3445A= (p.Thr1149=) c.665-913A= (n.665-913A=) c.707-913A= (n.707-913A=) c.671-913A= (n.671-913A=) c.*3369A= (n.*3369A=) c.788-913A= (n.788-913A=) c.410-913A= (n.410-913A=) c.413-913A= (n.413-913A=) c.5-27994A= (n.5-27994A=) c.-43-17424A= (n.-43-17424A=) c.-99+33326A= (n.-99+33326A=) n.3722A= n.3763A= | dbSNP dbSNP |