| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074388C>A | CA002930 | BRCA1 | c.4615G>T (p.Glu1539Ter) c.4618G>T (p.Glu1540Ter) c.4492G>T (p.Glu1498Ter) c.4612G>T (p.Glu1538Ter) c.4540G>T (p.Glu1514Ter) c.1306G>T (p.Glu436Ter) c.1168G>T (p.Glu390Ter) c.3730G>T (p.Glu1244Ter) c.4495G>T (p.Glu1499Ter) c.4684G>T (p.Glu1562Ter) c.4477G>T (p.Glu1493Ter) c.1180G>T (p.Glu394Ter) c.1225G>T (p.Glu409Ter) c.4681G>T (p.Glu1561Ter) c.1005G>T c.1192G>T (p.Glu398Ter) c.*4401G>T (n.*4401G>T) c.931G>T (p.Glu311Ter) c.5-10437G>T (n.5-10437G>T) c.91G>T (p.Glu31Ter) c.-98-24198G>T (n.-98-24198G>T) n.4754G>T n.4795G>T | ClinVar dbSNP |
| 17 | g.43074388C>G | CA10592275 | BRCA1 | c.4615G>C (p.Glu1539Gln) c.4618G>C (p.Glu1540Gln) c.4492G>C (p.Glu1498Gln) c.4612G>C (p.Glu1538Gln) c.4540G>C (p.Glu1514Gln) c.1306G>C (p.Glu436Gln) c.1168G>C (p.Glu390Gln) c.3730G>C (p.Glu1244Gln) c.4495G>C (p.Glu1499Gln) c.4684G>C (p.Glu1562Gln) c.4477G>C (p.Glu1493Gln) c.1180G>C (p.Glu394Gln) c.1225G>C (p.Glu409Gln) c.4681G>C (p.Glu1561Gln) c.1005G>C c.1192G>C (p.Glu398Gln) c.*4401G>C (n.*4401G>C) c.931G>C (p.Glu311Gln) c.5-10437G>C (n.5-10437G>C) c.91G>C (p.Glu31Gln) c.-98-24198G>C (n.-98-24198G>C) n.4754G>C n.4795G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43074388C= | CA2260774471 | BRCA1 | c.4615G= (p.Glu1539=) c.4618G= (p.Glu1540=) c.4492G= (p.Glu1498=) c.4612G= (p.Glu1538=) c.4540G= (p.Glu1514=) c.1306G= (p.Glu436=) c.1168G= (p.Glu390=) c.3730G= (p.Glu1244=) c.4495G= (p.Glu1499=) c.4684G= (p.Glu1562=) c.4477G= (p.Glu1493=) c.1180G= (p.Glu394=) c.1225G= (p.Glu409=) c.4681G= (p.Glu1561=) c.1005G= c.1192G= (p.Glu398=) c.*4401G= (n.*4401G=) c.931G= (p.Glu311=) c.5-10437G= (n.5-10437G=) c.91G= (p.Glu31=) c.-98-24198G= (n.-98-24198G=) n.4754G= n.4795G= | dbSNP |
| 17 | g.43074388C>T | CA10592276 | BRCA1 | c.4615G>A (p.Glu1539Lys) c.4618G>A (p.Glu1540Lys) c.4492G>A (p.Glu1498Lys) c.4612G>A (p.Glu1538Lys) c.4540G>A (p.Glu1514Lys) c.1306G>A (p.Glu436Lys) c.1168G>A (p.Glu390Lys) c.3730G>A (p.Glu1244Lys) c.4495G>A (p.Glu1499Lys) c.4684G>A (p.Glu1562Lys) c.4477G>A (p.Glu1493Lys) c.1180G>A (p.Glu394Lys) c.1225G>A (p.Glu409Lys) c.4681G>A (p.Glu1561Lys) c.1005G>A c.1192G>A (p.Glu398Lys) c.*4401G>A (n.*4401G>A) c.931G>A (p.Glu311Lys) c.5-10437G>A (n.5-10437G>A) c.91G>A (p.Glu31Lys) c.-98-24198G>A (n.-98-24198G>A) n.4754G>A n.4795G>A | ClinVar dbSNP |