| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063353C>T | CA10591199 | BRCA1 | c.5170G>A (p.Glu1724Lys) c.5173G>A (p.Glu1725Lys) c.5047G>A (p.Glu1683Lys) c.5167G>A (p.Glu1723Lys) c.5095G>A (p.Glu1699Lys) c.1861G>A (p.Glu621Lys) c.1723G>A (p.Glu575Lys) c.4285G>A (p.Glu1429Lys) c.5050G>A (p.Glu1684Lys) c.5239G>A (p.Glu1747Lys) c.5032G>A (p.Glu1678Lys) c.1735G>A (p.Glu579Lys) c.5236G>A (p.Glu1746Lys) c.1560G>A c.1747G>A (p.Glu583Lys) c.*4956G>A (n.*4956G>A) c.1486G>A (p.Glu496Lys) c.103G>A (p.Glu35Lys) c.646G>A (p.Glu216Lys) c.-98-13163G>A (n.-98-13163G>A) n.5309G>A n.5350G>A | ClinVar dbSNP |
| 17 | g.43063353C>A | CA003319 | BRCA1 | c.5170G>T (p.Glu1724Ter) c.5173G>T (p.Glu1725Ter) c.5047G>T (p.Glu1683Ter) c.5167G>T (p.Glu1723Ter) c.5095G>T (p.Glu1699Ter) c.1861G>T (p.Glu621Ter) c.1723G>T (p.Glu575Ter) c.4285G>T (p.Glu1429Ter) c.5050G>T (p.Glu1684Ter) c.5239G>T (p.Glu1747Ter) c.5032G>T (p.Glu1678Ter) c.1735G>T (p.Glu579Ter) c.5236G>T (p.Glu1746Ter) c.1560G>T c.1747G>T (p.Glu583Ter) c.*4956G>T (n.*4956G>T) c.1486G>T (p.Glu496Ter) c.103G>T (p.Glu35Ter) c.646G>T (p.Glu216Ter) c.-98-13163G>T (n.-98-13163G>T) n.5309G>T n.5350G>T | ClinVar dbSNP COSMIC |
| 17 | g.43063353C>G | CA10591198 | BRCA1 | c.5170G>C (p.Glu1724Gln) c.5173G>C (p.Glu1725Gln) c.5047G>C (p.Glu1683Gln) c.5167G>C (p.Glu1723Gln) c.5095G>C (p.Glu1699Gln) c.1861G>C (p.Glu621Gln) c.1723G>C (p.Glu575Gln) c.4285G>C (p.Glu1429Gln) c.5050G>C (p.Glu1684Gln) c.5239G>C (p.Glu1747Gln) c.5032G>C (p.Glu1678Gln) c.1735G>C (p.Glu579Gln) c.5236G>C (p.Glu1746Gln) c.1560G>C c.1747G>C (p.Glu583Gln) c.*4956G>C (n.*4956G>C) c.1486G>C (p.Glu496Gln) c.103G>C (p.Glu35Gln) c.646G>C (p.Glu216Gln) c.-98-13163G>C (n.-98-13163G>C) n.5309G>C n.5350G>C | ClinVar dbSNP |
| 17 | g.43063353C= | CA2260769207 | BRCA1 | c.5170G= (p.Glu1724=) c.5173G= (p.Glu1725=) c.5047G= (p.Glu1683=) c.5167G= (p.Glu1723=) c.5095G= (p.Glu1699=) c.1861G= (p.Glu621=) c.1723G= (p.Glu575=) c.4285G= (p.Glu1429=) c.5050G= (p.Glu1684=) c.5239G= (p.Glu1747=) c.5032G= (p.Glu1678=) c.1735G= (p.Glu579=) c.5236G= (p.Glu1746=) c.1560G= c.1747G= (p.Glu583=) c.*4956G= (n.*4956G=) c.1486G= (p.Glu496=) c.103G= (p.Glu35=) c.646G= (p.Glu216=) c.-98-13163G= (n.-98-13163G=) n.5309G= n.5350G= | dbSNP |