| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082407T>A | CA002783 | BRCA1 | c.4354A>T (p.Lys1452Ter) c.4228A>T (p.Lys1410Ter) c.4348A>T (p.Lys1450Ter) c.4276A>T (p.Lys1426Ter) c.1042A>T (p.Lys348Ter) c.904A>T (p.Lys302Ter) c.3466A>T (p.Lys1156Ter) c.4231A>T (p.Lys1411Ter) c.4213A>T (p.Lys1405Ter) c.919A>T (p.Lys307Ter) c.964A>T (p.Lys322Ter) c.675A>T c.928A>T (p.Lys310Ter) c.*4137A>T (n.*4137A>T) c.648A>T c.1045A>T (p.Lys349Ter) c.667A>T (p.Lys223Ter) c.670A>T (p.Lys224Ter) c.5-18456A>T (n.5-18456A>T) c.-43-7886A>T (n.-43-7886A>T) c.-98-32217A>T (n.-98-32217A>T) n.248A>T n.4490A>T n.4531A>T | ClinVar dbSNP |
| 17 | g.43082407T>C | CA10593014 | BRCA1 | c.4354A>G (p.Lys1452Glu) c.4228A>G (p.Lys1410Glu) c.4348A>G (p.Lys1450Glu) c.4276A>G (p.Lys1426Glu) c.1042A>G (p.Lys348Glu) c.904A>G (p.Lys302Glu) c.3466A>G (p.Lys1156Glu) c.4231A>G (p.Lys1411Glu) c.4213A>G (p.Lys1405Glu) c.919A>G (p.Lys307Glu) c.964A>G (p.Lys322Glu) c.675A>G c.928A>G (p.Lys310Glu) c.*4137A>G (n.*4137A>G) c.648A>G c.1045A>G (p.Lys349Glu) c.667A>G (p.Lys223Glu) c.670A>G (p.Lys224Glu) c.5-18456A>G (n.5-18456A>G) c.-43-7886A>G (n.-43-7886A>G) c.-98-32217A>G (n.-98-32217A>G) n.248A>G n.4490A>G n.4531A>G | ClinVar dbSNP |
| 17 | g.43082407T= | CA2260777952 | BRCA1 | c.4354A= (p.Lys1452=) c.4228A= (p.Lys1410=) c.4348A= (p.Lys1450=) c.4276A= (p.Lys1426=) c.1042A= (p.Lys348=) c.904A= (p.Lys302=) c.3466A= (p.Lys1156=) c.4231A= (p.Lys1411=) c.4213A= (p.Lys1405=) c.919A= (p.Lys307=) c.964A= (p.Lys322=) c.675A= c.928A= (p.Lys310=) c.*4137A= (n.*4137A=) c.648A= c.1045A= (p.Lys349=) c.667A= (p.Lys223=) c.670A= (p.Lys224=) c.5-18456A= (n.5-18456A=) c.-43-7886A= (n.-43-7886A=) c.-98-32217A= (n.-98-32217A=) n.248A= n.4490A= n.4531A= | dbSNP |