| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43076491del | CA10586609 | BRCA1 | c.4480del (p.Arg1494GlyfsTer10) c.4483del (p.Arg1495GlyfsTer10) c.4357del (p.Arg1453GlyfsTer10) c.4477del (p.Arg1493GlyfsTer10) c.4405del (p.Arg1469GlyfsTer10) c.1171del (p.Arg391GlyfsTer10) c.1033del (p.Arg345GlyfsTer10) c.3595del (p.Arg1199GlyfsTer10) c.4360del (p.Arg1454GlyfsTer10) c.4549del (p.Arg1517GlyfsTer10) c.4342del (p.Arg1448GlyfsTer10) c.1045del (p.Arg349GlyfsTer10) c.1090del (p.Arg364GlyfsTer10) c.4546del (p.Arg1516GlyfsTer10) c.870del c.1057del (p.Arg353GlyfsTer10) c.*4266del (n.*4266del) c.796del (p.Arg266GlyfsTer10) c.799del c.5-12538del (n.5-12538del) c.-43-1968del (n.-43-1968del) c.-98-26299del (n.-98-26299del) n.374del n.4619del n.4660del | ClinVar dbSNP |
| 17 | g.43076490_43076491del | CA002869 | BRCA1 | c.4479_4480del (p.Arg1494ValfsTer5) c.4482_4483del (p.Arg1495ValfsTer5) c.4356_4357del (p.Arg1453ValfsTer5) c.4476_4477del (p.Arg1493ValfsTer5) c.4404_4405del (p.Arg1469ValfsTer5) c.1170_1171del (p.Arg391ValfsTer5) c.1032_1033del (p.Arg345ValfsTer5) c.3594_3595del (p.Arg1199ValfsTer5) c.4359_4360del (p.Arg1454ValfsTer5) c.4548_4549del (p.Arg1517ValfsTer5) c.4341_4342del (p.Arg1448ValfsTer5) c.1044_1045del (p.Arg349ValfsTer5) c.1089_1090del (p.Arg364ValfsTer5) c.4545_4546del (p.Arg1516ValfsTer5) c.869_870del c.1056_1057del (p.Arg353ValfsTer5) c.*4265_*4266del (n.*4265_*4266del) c.795_796del (p.Arg266ValfsTer5) c.798_799del (p.Glu266=) c.5-12539_5-12538del (n.5-12539_5-12538del) c.-43-1969_-43-1968del (n.-43-1969_-43-1968del) c.-98-26300_-98-26299del (n.-98-26300_-98-26299del) n.373_374del n.4618_4619del n.4659_4660del | ClinVar dbSNP |