| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074331C>T | CA002963 | BRCA1 | c.4672G>A (p.Glu1558Lys) c.4675G>A (p.Glu1559Lys) c.4549G>A (p.Glu1517Lys) c.4669G>A (p.Glu1557Lys) c.4597G>A (p.Glu1533Lys) c.1363G>A (p.Glu455Lys) c.1225G>A (p.Glu409Lys) c.3787G>A (p.Glu1263Lys) c.4552G>A (p.Glu1518Lys) c.4741G>A (p.Glu1581Lys) c.4534G>A (p.Glu1512Lys) c.1237G>A (p.Glu413Lys) c.1282G>A (p.Glu428Lys) c.4738G>A (p.Glu1580Lys) c.1062G>A c.1249G>A (p.Glu417Lys) c.*4458G>A (n.*4458G>A) c.988G>A (p.Glu330Lys) c.5-10380G>A (n.5-10380G>A) c.148G>A (p.Glu50Lys) c.-98-24141G>A (n.-98-24141G>A) n.4811G>A n.4852G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43074331C>G | CA002964 | BRCA1 | c.4672G>C (p.Glu1558Gln) c.4675G>C (p.Glu1559Gln) c.4549G>C (p.Glu1517Gln) c.4669G>C (p.Glu1557Gln) c.4597G>C (p.Glu1533Gln) c.1363G>C (p.Glu455Gln) c.1225G>C (p.Glu409Gln) c.3787G>C (p.Glu1263Gln) c.4552G>C (p.Glu1518Gln) c.4741G>C (p.Glu1581Gln) c.4534G>C (p.Glu1512Gln) c.1237G>C (p.Glu413Gln) c.1282G>C (p.Glu428Gln) c.4738G>C (p.Glu1580Gln) c.1062G>C c.1249G>C (p.Glu417Gln) c.*4458G>C (n.*4458G>C) c.988G>C (p.Glu330Gln) c.5-10380G>C (n.5-10380G>C) c.148G>C (p.Glu50Gln) c.-98-24141G>C (n.-98-24141G>C) n.4811G>C n.4852G>C | ClinVar dbSNP |
| 17 | g.43074331C>A | CA10592162 | BRCA1 | c.4672G>T (p.Glu1558Ter) c.4675G>T (p.Glu1559Ter) c.4549G>T (p.Glu1517Ter) c.4669G>T (p.Glu1557Ter) c.4597G>T (p.Glu1533Ter) c.1363G>T (p.Glu455Ter) c.1225G>T (p.Glu409Ter) c.3787G>T (p.Glu1263Ter) c.4552G>T (p.Glu1518Ter) c.4741G>T (p.Glu1581Ter) c.4534G>T (p.Glu1512Ter) c.1237G>T (p.Glu413Ter) c.1282G>T (p.Glu428Ter) c.4738G>T (p.Glu1580Ter) c.1062G>T c.1249G>T (p.Glu417Ter) c.*4458G>T (n.*4458G>T) c.988G>T (p.Glu330Ter) c.5-10380G>T (n.5-10380G>T) c.148G>T (p.Glu50Ter) c.-98-24141G>T (n.-98-24141G>T) n.4811G>T n.4852G>T | dbSNP |
| 17 | g.43074331C= | CA2260774415 | BRCA1 | c.4672G= (p.Glu1558=) c.4675G= (p.Glu1559=) c.4549G= (p.Glu1517=) c.4669G= (p.Glu1557=) c.4597G= (p.Glu1533=) c.1363G= (p.Glu455=) c.1225G= (p.Glu409=) c.3787G= (p.Glu1263=) c.4552G= (p.Glu1518=) c.4741G= (p.Glu1581=) c.4534G= (p.Glu1512=) c.1237G= (p.Glu413=) c.1282G= (p.Glu428=) c.4738G= (p.Glu1580=) c.1062G= c.1249G= (p.Glu417=) c.*4458G= (n.*4458G=) c.988G= (p.Glu330=) c.5-10380G= (n.5-10380G=) c.148G= (p.Glu50=) c.-98-24141G= (n.-98-24141G=) n.4811G= n.4852G= | dbSNP |