| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43049143del | CA003545 | BRCA1 | c.5383del (p.Ser1795HisfsTer?) c.5386del (p.Ser1796HisfsTer?) c.5260del (p.Ser1754HisfsTer?) c.5380del (p.Ser1794HisfsTer?) c.5308del (p.Ser1770HisfsTer?) c.2074del (p.Ser692HisfsTer?) c.1936del (p.Ser646HisfsTer?) c.4498del (p.Ser1500HisfsTer?) c.5263del (p.Ser1755HisfsTer?) c.5452del (p.Ser1818HisfsTer?) c.5245del (p.Ser1749HisfsTer?) c.1948del (p.Ser650HisfsTer?) n.1269del c.5449del (p.Ser1817HisfsTer?) c.1773del c.1960del (p.Ser654HisfsTer?) c.*5169del (n.*5169del) c.2021-1438del (n.2021-1438del) c.316del (p.Ser106HisfsTer?) c.859del (p.Ser287HisfsTer?) c.85del (p.Ser29HisfsTer?) n.5522del n.5563del | ClinVar dbSNP |
| 17 | g.43049143dup | CA268393 | BRCA1 | c.5383dup (p.Ser1795PhefsTer?) c.5386dup (p.Ser1796PhefsTer?) c.5260dup (p.Ser1754PhefsTer?) c.5380dup (p.Ser1794PhefsTer?) c.5308dup (p.Ser1770PhefsTer?) c.2074dup (p.Ser692PhefsTer?) c.1936dup (p.Ser646PhefsTer?) c.4498dup (p.Ser1500PhefsTer?) c.5263dup (p.Ser1755PhefsTer?) c.5452dup (p.Ser1818PhefsTer?) c.5245dup (p.Ser1749PhefsTer?) c.1948dup (p.Ser650PhefsTer?) n.1269dup c.5449dup (p.Ser1817PhefsTer?) c.1773dup c.1960dup (p.Ser654PhefsTer?) c.*5169dup (n.*5169dup) c.2021-1438dup (n.2021-1438dup) c.316dup (p.Ser106PhefsTer?) c.859dup (p.Ser287PhefsTer?) c.85dup (p.Ser29PhefsTer?) n.5522dup n.5563dup | ClinVar dbSNP COSMIC |