| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067657del | CA10589631 | BRCA1 | c.5024del (p.Leu1675Ter) c.5027del (p.Leu1676Ter) c.4901del (p.Leu1634Ter) c.5021del (p.Leu1674Ter) c.4949del (p.Leu1650Ter) c.1715del (p.Leu572Ter) c.1577del (p.Leu526Ter) c.4139del (p.Leu1380Ter) c.4904del (p.Leu1635Ter) c.5093del (p.Leu1698Ter) c.4886del (p.Leu1629Ter) c.1589del (p.Leu530Ter) c.5090del (p.Leu1697Ter) c.1414del c.1601del (p.Leu534Ter) c.*4810del (n.*4810del) n.180del c.1340del (p.Leu447Ter) c.5-3704del (n.5-3704del) c.500del (p.Leu167Ter) c.-98-17465del (n.-98-17465del) n.5163del n.5204del | ClinVar dbSNP |
| 17 | g.43067656_43067657del | CA10589630 | BRCA1 | c.5023_5024del (p.Leu1675AsnfsTer2) c.5026_5027del (p.Leu1676AsnfsTer2) c.4900_4901del (p.Leu1634AsnfsTer2) c.5020_5021del (p.Leu1674AsnfsTer2) c.4948_4949del (p.Leu1650AsnfsTer2) c.1714_1715del (p.Leu572AsnfsTer2) c.1576_1577del (p.Leu526AsnfsTer2) c.4138_4139del (p.Leu1380AsnfsTer2) c.4903_4904del (p.Leu1635AsnfsTer2) c.5092_5093del (p.Leu1698AsnfsTer2) c.4885_4886del (p.Leu1629AsnfsTer2) c.1588_1589del (p.Leu530AsnfsTer2) c.5089_5090del (p.Leu1697AsnfsTer2) c.1413_1414del c.1600_1601del (p.Leu534AsnfsTer2) c.*4809_*4810del (n.*4809_*4810del) n.179_180del c.1339_1340del (p.Leu447AsnfsTer2) c.5-3705_5-3704del (n.5-3705_5-3704del) c.499_500del (p.Leu167AsnfsTer2) c.-98-17466_-98-17465del (n.-98-17466_-98-17465del) n.5162_5163del n.5203_5204del | ClinVar dbSNP |
| 17 | g.43067657dup | CA327956 | BRCA1 | c.5024dup (p.Leu1675PhefsTer3) c.5027dup (p.Leu1676PhefsTer3) c.4901dup (p.Leu1634PhefsTer3) c.5021dup (p.Leu1674PhefsTer3) c.4949dup (p.Leu1650PhefsTer3) c.1715dup (p.Leu572PhefsTer3) c.1577dup (p.Leu526PhefsTer3) c.4139dup (p.Leu1380PhefsTer3) c.4904dup (p.Leu1635PhefsTer3) c.5093dup (p.Leu1698PhefsTer3) c.4886dup (p.Leu1629PhefsTer3) c.1589dup (p.Leu530PhefsTer3) c.5090dup (p.Leu1697PhefsTer3) c.1414dup c.1601dup (p.Leu534PhefsTer3) c.*4810dup (n.*4810dup) n.180dup c.1340dup (p.Leu447PhefsTer3) c.5-3704dup (n.5-3704dup) c.500dup (p.Leu167PhefsTer3) c.-98-17465dup (n.-98-17465dup) n.5163dup n.5204dup | ClinVar dbSNP |