| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082533C>A | CA002721 | BRCA1 | c.4228G>T (p.Glu1410Ter) c.4102G>T (p.Glu1368Ter) c.4222G>T (p.Glu1408Ter) c.4150G>T (p.Glu1384Ter) c.916G>T (p.Glu306Ter) c.778G>T (p.Glu260Ter) c.3340G>T (p.Glu1114Ter) c.4105G>T (p.Glu1369Ter) c.4087G>T (p.Glu1363Ter) c.793G>T (p.Glu265Ter) c.838G>T (p.Glu280Ter) c.549G>T c.802G>T (p.Glu268Ter) c.*4011G>T (n.*4011G>T) c.522G>T c.919G>T (p.Glu307Ter) c.541G>T (p.Glu181Ter) c.544G>T (p.Glu182Ter) c.5-18582G>T (n.5-18582G>T) c.-43-8012G>T (n.-43-8012G>T) c.-98-32343G>T (n.-98-32343G>T) n.122G>T n.4364G>T n.4405G>T | ClinVar dbSNP |
| 17 | g.43082533C>G | CA10593265 | BRCA1 | c.4228G>C (p.Glu1410Gln) c.4102G>C (p.Glu1368Gln) c.4222G>C (p.Glu1408Gln) c.4150G>C (p.Glu1384Gln) c.916G>C (p.Glu306Gln) c.778G>C (p.Glu260Gln) c.3340G>C (p.Glu1114Gln) c.4105G>C (p.Glu1369Gln) c.4087G>C (p.Glu1363Gln) c.793G>C (p.Glu265Gln) c.838G>C (p.Glu280Gln) c.549G>C c.802G>C (p.Glu268Gln) c.*4011G>C (n.*4011G>C) c.522G>C c.919G>C (p.Glu307Gln) c.541G>C (p.Glu181Gln) c.544G>C (p.Glu182Gln) c.5-18582G>C (n.5-18582G>C) c.-43-8012G>C (n.-43-8012G>C) c.-98-32343G>C (n.-98-32343G>C) n.122G>C n.4364G>C n.4405G>C | dbSNP |
| 17 | g.43082533C>T | CA10593266 | BRCA1 | c.4228G>A (p.Glu1410Lys) c.4102G>A (p.Glu1368Lys) c.4222G>A (p.Glu1408Lys) c.4150G>A (p.Glu1384Lys) c.916G>A (p.Glu306Lys) c.778G>A (p.Glu260Lys) c.3340G>A (p.Glu1114Lys) c.4105G>A (p.Glu1369Lys) c.4087G>A (p.Glu1363Lys) c.793G>A (p.Glu265Lys) c.838G>A (p.Glu280Lys) c.549G>A c.802G>A (p.Glu268Lys) c.*4011G>A (n.*4011G>A) c.522G>A c.919G>A (p.Glu307Lys) c.541G>A (p.Glu181Lys) c.544G>A (p.Glu182Lys) c.5-18582G>A (n.5-18582G>A) c.-43-8012G>A (n.-43-8012G>A) c.-98-32343G>A (n.-98-32343G>A) n.122G>A n.4364G>A n.4405G>A | dbSNP |
| 17 | g.43082533C= | CA2260778053 | BRCA1 | c.4228G= (p.Glu1410=) c.4102G= (p.Glu1368=) c.4222G= (p.Glu1408=) c.4150G= (p.Glu1384=) c.916G= (p.Glu306=) c.778G= (p.Glu260=) c.3340G= (p.Glu1114=) c.4105G= (p.Glu1369=) c.4087G= (p.Glu1363=) c.793G= (p.Glu265=) c.838G= (p.Glu280=) c.549G= c.802G= (p.Glu268=) c.*4011G= (n.*4011G=) c.522G= c.919G= (p.Glu307=) c.541G= (p.Glu181=) c.544G= (p.Glu182=) c.5-18582G= (n.5-18582G=) c.-43-8012G= (n.-43-8012G=) c.-98-32343G= (n.-98-32343G=) n.122G= n.4364G= n.4405G= | dbSNP |