| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045769dup | CA10589589 | BRCA1 | c.5500dup (p.Arg1834ProfsTer?) c.5503dup (p.Arg1835ProfsTer?) c.5377dup (p.Arg1793ProfsTer?) c.5497dup (p.Arg1833ProfsTer?) c.5425dup (p.Arg1809ProfsTer?) c.2191dup (p.Arg731ProfsTer?) c.2053dup (p.Arg685ProfsTer?) c.4615dup (p.Arg1539ProfsTer?) c.5380dup (p.Arg1794ProfsTer?) c.5569dup (p.Arg1857ProfsTer?) c.5362dup (p.Arg1788ProfsTer?) c.2065dup (p.Arg689ProfsTer?) n.1386dup n.867dup c.5566dup (p.Arg1856ProfsTer?) c.1890dup c.2077dup (p.Arg693ProfsTer?) c.*5286dup (n.*5286dup) c.*17dup (n.*17dup) c.433dup (p.Arg145ProfsTer?) c.976dup (p.Arg326ProfsTer?) c.202dup (p.Arg68ProfsTer?) n.5639dup n.5680dup | ClinVar dbSNP |
| 17 | g.43045768_43045769dup | CA10589588 | BRCA1 | c.5499_5500dup (p.Arg1834ProfsTer9) c.5502_5503dup (p.Arg1835ProfsTer9) c.5376_5377dup (p.Arg1793ProfsTer9) c.5496_5497dup (p.Arg1833ProfsTer9) c.5424_5425dup (p.Arg1809ProfsTer9) c.2190_2191dup (p.Arg731ProfsTer9) c.2052_2053dup (p.Arg685ProfsTer9) c.4614_4615dup (p.Arg1539ProfsTer9) c.5379_5380dup (p.Arg1794ProfsTer9) c.5568_5569dup (p.Arg1857ProfsTer9) c.5361_5362dup (p.Arg1788ProfsTer9) c.2064_2065dup (p.Arg689ProfsTer9) n.1385_1386dup n.866_867dup c.5565_5566dup (p.Arg1856ProfsTer9) c.1889_1890dup c.2076_2077dup (p.Arg693ProfsTer9) c.*5285_*5286dup (n.*5285_*5286dup) c.*16_*17dup (n.*16_*17dup) c.432_433dup (p.Arg145ProfsTer9) c.975_976dup (p.Arg326ProfsTer9) c.201_202dup (p.Arg68ProfsTer9) n.5638_5639dup n.5679_5680dup | ClinVar dbSNP |
| 17 | g.43045769del | CA003675 | BRCA1 | c.5500del (p.Arg1834GlufsTer8) c.5503del (p.Arg1835GlufsTer8) c.5377del (p.Arg1793GlufsTer8) c.5497del (p.Arg1833GlufsTer8) c.5425del (p.Arg1809GlufsTer8) c.2191del (p.Arg731GlufsTer8) c.2053del (p.Arg685GlufsTer8) c.4615del (p.Arg1539GlufsTer8) c.5380del (p.Arg1794GlufsTer8) c.5569del (p.Arg1857GlufsTer8) c.5362del (p.Arg1788GlufsTer8) c.2065del (p.Arg689GlufsTer8) n.1386del n.867del c.5566del (p.Arg1856GlufsTer8) c.1890del c.2077del (p.Arg693GlufsTer8) c.*5286del (n.*5286del) c.*17del (n.*17del) c.433del (p.Arg145GlufsTer8) c.976del (p.Arg326GlufsTer8) c.202del (p.Arg68GlufsTer8) n.5639del n.5680del | ClinVar dbSNP |
| 17 | g.43045768_43045769del | CA2580612622 | BRCA1 | c.5499_5500del (p.Glu1835ValfsTer?) c.5502_5503del (p.Glu1836ValfsTer?) c.5376_5377del (p.Glu1794ValfsTer?) c.5496_5497del (p.Glu1834ValfsTer?) c.5424_5425del (p.Glu1810ValfsTer?) c.2190_2191del (p.Glu732ValfsTer?) c.2052_2053del (p.Glu686ValfsTer?) c.4614_4615del (p.Glu1540ValfsTer?) c.5379_5380del (p.Glu1795ValfsTer?) c.5568_5569del (p.Glu1858ValfsTer?) c.5361_5362del (p.Glu1789ValfsTer?) c.2064_2065del (p.Glu690ValfsTer?) n.1385_1386del n.866_867del c.5565_5566del (p.Glu1857ValfsTer?) c.1889_1890del c.2076_2077del (p.Glu694ValfsTer?) c.*5285_*5286del (n.*5285_*5286del) c.*16_*17del (n.*16_*17del) c.432_433del (p.Glu146ValfsTer?) c.975_976del (p.Glu327ValfsTer?) c.201_202del (p.Glu69ValfsTer?) n.5638_5639del n.5679_5680del | ClinVar dbSNP |