| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057070del | CA003400 | BRCA1 | c.5256del (p.Glu1753AsnfsTer11) c.5259del (p.Glu1754AsnfsTer11) c.5133del (p.Glu1712AsnfsTer11) c.5253del (p.Glu1752AsnfsTer11) c.5181del (p.Glu1728AsnfsTer11) c.1947del (p.Glu650AsnfsTer11) c.1809del (p.Glu604AsnfsTer11) c.4371del (p.Glu1458AsnfsTer11) c.5136del (p.Glu1713AsnfsTer11) c.5325del (p.Glu1776AsnfsTer11) c.5118del (p.Glu1707AsnfsTer11) c.1821del (p.Glu608AsnfsTer11) c.5322del (p.Glu1775AsnfsTer11) c.1646del c.1833del (p.Glu612AsnfsTer11) c.*5042del (n.*5042del) c.189del (p.Glu64AsnfsTer11) c.732del (p.Glu245AsnfsTer11) c.-98-6880del (n.-98-6880del) n.5395del n.5436del | ClinVar dbSNP |
| 17 | g.43057070T= | CA2260766382 | BRCA1 | c.5256A= (p.Arg1752=) c.5259A= (p.Arg1753=) c.5133A= (p.Arg1711=) c.5253A= (p.Arg1751=) c.5181A= (p.Arg1727=) c.1947A= (p.Arg649=) c.1809A= (p.Arg603=) c.4371A= (p.Arg1457=) c.5136A= (p.Arg1712=) c.5325A= (p.Arg1775=) c.5118A= (p.Arg1706=) c.1821A= (p.Arg607=) c.5322A= (p.Arg1774=) c.1646A= c.1833A= (p.Arg611=) c.*5042A= (n.*5042A=) c.189A= (p.Arg63=) c.732A= (p.Arg244=) c.-98-6880A= (n.-98-6880A=) n.5395A= n.5436A= | dbSNP dbSNP |