| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214728713_214728714del | CA2090050 | BARD1 | c.2300_2301del (p.Val767AspfsTer4) c.947_948del (p.Val316AspfsTer4) c.*363_*364del (n.*363_*364del) c.890_891del (p.Val297AspfsTer4) c.1892_1893del (p.Val631AspfsTer4) c.2243_2244del (p.Val748AspfsTer4) c.761_762del (p.Val254AspfsTer4) c.3675_3676del c.443_444del c.*1920_*1921del (n.*1920_*1921del) n.635_636del c.470_471del (p.Val157AspfsTer4) c.*966_*967del (n.*966_*967del) n.2293_2294del n.2236_2237del n.1492_1493del c.2246_2247del (p.Val749AspfsTer4) c.2399_2400del (p.Val800AspfsTer4) n.2666_2667del n.2265_2266del n.2208_2209del n.1464_1465del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214728713_214728714dup | CA2582342075 | BARD1 | c.2300_2301dup (p.Met768Ter) c.947_948dup (p.Met317Ter) c.*363_*364dup (n.*363_*364dup) c.890_891dup (p.Met298Ter) c.1892_1893dup (p.Met632Ter) c.2243_2244dup (p.Met749Ter) c.761_762dup (p.Met255Ter) c.3675_3676dup c.443_444dup c.*1920_*1921dup (n.*1920_*1921dup) n.635_636dup c.470_471dup (p.Met158Ter) c.*966_*967dup (n.*966_*967dup) n.2293_2294dup n.2236_2237dup n.1492_1493dup c.2246_2247dup (p.Met750Ter) c.2399_2400dup (p.Met801Ter) n.2666_2667dup n.2265_2266dup n.2208_2209dup n.1464_1465dup | ClinVar dbSNP |