Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32394862del | CA026152 | BRCA2 | c.9430del (p.Ser3144LeufsTer19) c.*797del (n.*797del) c.9061del (p.Ser3021LeufsTer19) c.*992del (n.*992del) c.*275del (n.*275del) c.9379del (p.Ser3127LeufsTer19) c.1846del (p.Ser616LeufsTer19) n.1557del c.9438del (n.9438del) c.2308del c.452del (n.452del) c.387del c.9334del (p.Ser3112LeufsTer19) | ClinVar dbSNP |
13 | g.32394861_32394862del | CA026150 | BRCA2 | c.9429_9430del (p.Ser3144CysfsTer5) c.*796_*797del (n.*796_*797del) c.9060_9061del (p.Ser3021CysfsTer5) c.*991_*992del (n.*991_*992del) c.*274_*275del (n.*274_*275del) c.9378_9379del (p.Ser3127CysfsTer5) c.1845_1846del (p.Ser616CysfsTer5) n.1556_1557del c.9437_9438del (n.9437_9438del) c.2307_2308del c.451_452del (n.451_452del) c.386_387del c.9333_9334del (p.Ser3112CysfsTer5) | ClinVar dbSNP |