| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43057120T>A | CA003361 | BRCA1 | c.5206A>T (p.Arg1736Ter) c.5209A>T (p.Arg1737Ter) c.5083A>T (p.Arg1695Ter) c.5203A>T (p.Arg1735Ter) c.5131A>T (p.Arg1711Ter) c.1897A>T (p.Arg633Ter) c.1759A>T (p.Arg587Ter) c.4321A>T (p.Arg1441Ter) c.5086A>T (p.Arg1696Ter) c.5275A>T (p.Arg1759Ter) c.5068A>T (p.Arg1690Ter) c.1771A>T (p.Arg591Ter) c.5272A>T (p.Arg1758Ter) c.1596A>T c.1783A>T (p.Arg595Ter) c.*4992A>T (n.*4992A>T) c.139A>T (p.Arg47Ter) c.682A>T (p.Arg228Ter) c.-98-6930A>T (n.-98-6930A>T) n.5345A>T n.5386A>T | ClinVar dbSNP |
| 17 | g.43057120T>C | CA10591120 | BRCA1 | c.5206A>G (p.Arg1736Gly) c.5209A>G (p.Arg1737Gly) c.5083A>G (p.Arg1695Gly) c.5203A>G (p.Arg1735Gly) c.5131A>G (p.Arg1711Gly) c.1897A>G (p.Arg633Gly) c.1759A>G (p.Arg587Gly) c.4321A>G (p.Arg1441Gly) c.5086A>G (p.Arg1696Gly) c.5275A>G (p.Arg1759Gly) c.5068A>G (p.Arg1690Gly) c.1771A>G (p.Arg591Gly) c.5272A>G (p.Arg1758Gly) c.1596A>G c.1783A>G (p.Arg595Gly) c.*4992A>G (n.*4992A>G) c.139A>G (p.Arg47Gly) c.682A>G (p.Arg228Gly) c.-98-6930A>G (n.-98-6930A>G) n.5345A>G n.5386A>G | ClinVar dbSNP |
| 17 | g.43057120T>G | CA500144837 | BRCA1 | c.5206A>C (p.Arg1736=) c.5209A>C (p.Arg1737=) c.5083A>C (p.Arg1695=) c.5203A>C (p.Arg1735=) c.5131A>C (p.Arg1711=) c.1897A>C (p.Arg633=) c.1759A>C (p.Arg587=) c.4321A>C (p.Arg1441=) c.5086A>C (p.Arg1696=) c.5275A>C (p.Arg1759=) c.5068A>C (p.Arg1690=) c.1771A>C (p.Arg591=) c.5272A>C (p.Arg1758=) c.1596A>C c.1783A>C (p.Arg595=) c.*4992A>C (n.*4992A>C) c.139A>C (p.Arg47=) c.682A>C (p.Arg228=) c.-98-6930A>C (n.-98-6930A>C) n.5345A>C n.5386A>C | ClinVar dbSNP |
| 17 | g.43057120T= | CA2260766457 | BRCA1 | c.5206A= (p.Arg1736=) c.5209A= (p.Arg1737=) c.5083A= (p.Arg1695=) c.5203A= (p.Arg1735=) c.5131A= (p.Arg1711=) c.1897A= (p.Arg633=) c.1759A= (p.Arg587=) c.4321A= (p.Arg1441=) c.5086A= (p.Arg1696=) c.5275A= (p.Arg1759=) c.5068A= (p.Arg1690=) c.1771A= (p.Arg591=) c.5272A= (p.Arg1758=) c.1596A= c.1783A= (p.Arg595=) c.*4992A= (n.*4992A=) c.139A= (p.Arg47=) c.682A= (p.Arg228=) c.-98-6930A= (n.-98-6930A=) n.5345A= n.5386A= | dbSNP dbSNP |