| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43070942del | CA16616883 | BRCA1 | c.4969del (p.Thr1657ProfsTer19) c.4972del (p.Thr1658ProfsTer19) c.4846del (p.Thr1616ProfsTer19) c.4966del (p.Thr1656ProfsTer19) c.4894del (p.Thr1632ProfsTer19) c.1660del (p.Thr554ProfsTer19) c.1522del (p.Thr508ProfsTer19) c.4084del (p.Thr1362ProfsTer19) c.4849del (p.Thr1617ProfsTer19) c.5038del (p.Thr1680ProfsTer19) c.4831del (p.Thr1611ProfsTer19) c.1534del (p.Thr512ProfsTer19) c.1579del (p.Thr527ProfsTer6) c.5035del (p.Thr1679ProfsTer19) c.1359del c.1546del (p.Thr516ProfsTer19) c.*4755del (n.*4755del) n.125del c.1285del (p.Thr429ProfsTer19) c.5-6991del (n.5-6991del) c.445del (p.Thr149ProfsTer19) c.-98-20752del (n.-98-20752del) n.5108del n.5149del | ClinVar dbSNP |
| 17 | g.43070942T= | CA2260772750 | BRCA1 | c.4969A= (p.Thr1657=) c.4972A= (p.Thr1658=) c.4846A= (p.Thr1616=) c.4966A= (p.Thr1656=) c.4894A= (p.Thr1632=) c.1660A= (p.Thr554=) c.1522A= (p.Thr508=) c.4084A= (p.Thr1362=) c.4849A= (p.Thr1617=) c.5038A= (p.Thr1680=) c.4831A= (p.Thr1611=) c.1534A= (p.Thr512=) c.1579A= (p.Thr527=) c.5035A= (p.Thr1679=) c.1359A= c.1546A= (p.Thr516=) c.*4755A= (n.*4755A=) n.125A= c.1285A= (p.Thr429=) c.5-6991A= (n.5-6991A=) c.445A= (p.Thr149=) c.-98-20752A= (n.-98-20752A=) n.5108A= n.5149A= | dbSNP dbSNP |