| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074411_43074412insGA | CA002919 | BRCA1 | c.4592_4593insCT (p.Asp1532LeufsTer16) c.4595_4596insCT (p.Asp1533LeufsTer16) c.4469_4470insCT (p.Asp1491LeufsTer16) c.4589_4590insCT (p.Asp1531LeufsTer16) c.4517_4518insCT (p.Asp1507LeufsTer16) c.1283_1284insCT (p.Asp429LeufsTer16) c.1145_1146insCT (p.Asp383LeufsTer16) c.3707_3708insCT (p.Asp1237LeufsTer16) c.4472_4473insCT (p.Asp1492LeufsTer16) c.4661_4662insCT (p.Asp1555LeufsTer16) c.4454_4455insCT (p.Asp1486LeufsTer16) c.1157_1158insCT (p.Asp387LeufsTer16) c.1202_1203insCT (p.Asp402LeufsTer16) c.4658_4659insCT (p.Asp1554LeufsTer16) c.982_983insCT c.1169_1170insCT (p.Asp391LeufsTer16) c.*4378_*4379insCT (n.*4378_*4379insCT) c.908_909insCT (p.Asp304LeufsTer16) c.5-10460_5-10459insCT (n.5-10460_5-10459insCT) c.68_69insCT (p.Asp24LeufsTer16) c.-98-24221_-98-24220insCT (n.-98-24221_-98-24220insCT) n.4731_4732insCT n.4772_4773insCT | ClinVar dbSNP |
| 17 | g.43074411A= | CA2260774489 | BRCA1 | c.4592T= (p.Val1531=) c.4595T= (p.Val1532=) c.4469T= (p.Val1490=) c.4589T= (p.Val1530=) c.4517T= (p.Val1506=) c.1283T= (p.Val428=) c.1145T= (p.Val382=) c.3707T= (p.Val1236=) c.4472T= (p.Val1491=) c.4661T= (p.Val1554=) c.4454T= (p.Val1485=) c.1157T= (p.Val386=) c.1202T= (p.Val401=) c.4658T= (p.Val1553=) c.982T= c.1169T= (p.Val390=) c.*4378T= (n.*4378T=) c.908T= (p.Val303=) c.5-10460T= (n.5-10460T=) c.68T= (p.Val23=) c.-98-24221T= (n.-98-24221T=) n.4731T= n.4772T= | dbSNP dbSNP |