| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32394743dup | CA10589557 | BRCA2 | c.9311dup (p.Phe3105ValfsTer6) c.*678dup (n.*678dup) c.8942dup (p.Phe2982ValfsTer6) c.*873dup (n.*873dup) c.*156dup (n.*156dup) c.9260dup (p.Phe3088ValfsTer6) c.1727dup (p.Phe577ValfsTer6) n.1438dup c.9319dup (n.9319dup) c.2189dup c.333dup (n.333dup) c.268dup c.9215dup (p.Phe3073ValfsTer6) | ClinVar dbSNP |
| 13 | g.32394742_32394743del | CA026102 | BRCA2 | c.9310_9311del (p.Lys3104ValfsTer6) c.*677_*678del (n.*677_*678del) c.8941_8942del (p.Lys2981ValfsTer6) c.*872_*873del (n.*872_*873del) c.*155_*156del (n.*155_*156del) c.9259_9260del (p.Lys3087ValfsTer6) c.1726_1727del (p.Lys576ValfsTer6) n.1437_1438del c.9318_9319del (n.9318_9319del) c.2188_2189del c.332_333del (n.332_333del) c.267_268del c.9214_9215del (p.Lys3072ValfsTer6) | ClinVar dbSNP |