| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43067635C>A | CA003173 | BRCA1 | c.5044G>T (p.Glu1682Ter) c.5047G>T (p.Glu1683Ter) c.4921G>T (p.Glu1641Ter) c.5041G>T (p.Glu1681Ter) c.4969G>T (p.Glu1657Ter) c.1735G>T (p.Glu579Ter) c.1597G>T (p.Glu533Ter) c.4159G>T (p.Glu1387Ter) c.4924G>T (p.Glu1642Ter) c.5113G>T (p.Glu1705Ter) c.4906G>T (p.Glu1636Ter) c.1609G>T (p.Glu537Ter) c.5110G>T (p.Glu1704Ter) c.1434G>T c.1621G>T (p.Glu541Ter) c.*4830G>T (n.*4830G>T) n.200G>T c.1360G>T (p.Glu454Ter) c.5-3684G>T (n.5-3684G>T) c.520G>T (p.Glu174Ter) c.-98-17445G>T (n.-98-17445G>T) n.5183G>T n.5224G>T | ClinVar dbSNP |
| 17 | g.43067635C>G | CA10591424 | BRCA1 | c.5044G>C (p.Glu1682Gln) c.5047G>C (p.Glu1683Gln) c.4921G>C (p.Glu1641Gln) c.5041G>C (p.Glu1681Gln) c.4969G>C (p.Glu1657Gln) c.1735G>C (p.Glu579Gln) c.1597G>C (p.Glu533Gln) c.4159G>C (p.Glu1387Gln) c.4924G>C (p.Glu1642Gln) c.5113G>C (p.Glu1705Gln) c.4906G>C (p.Glu1636Gln) c.1609G>C (p.Glu537Gln) c.5110G>C (p.Glu1704Gln) c.1434G>C c.1621G>C (p.Glu541Gln) c.*4830G>C (n.*4830G>C) n.200G>C c.1360G>C (p.Glu454Gln) c.5-3684G>C (n.5-3684G>C) c.520G>C (p.Glu174Gln) c.-98-17445G>C (n.-98-17445G>C) n.5183G>C n.5224G>C | ClinVar dbSNP |
| 17 | g.43067635C>T | CA10591425 | BRCA1 | c.5044G>A (p.Glu1682Lys) c.5047G>A (p.Glu1683Lys) c.4921G>A (p.Glu1641Lys) c.5041G>A (p.Glu1681Lys) c.4969G>A (p.Glu1657Lys) c.1735G>A (p.Glu579Lys) c.1597G>A (p.Glu533Lys) c.4159G>A (p.Glu1387Lys) c.4924G>A (p.Glu1642Lys) c.5113G>A (p.Glu1705Lys) c.4906G>A (p.Glu1636Lys) c.1609G>A (p.Glu537Lys) c.5110G>A (p.Glu1704Lys) c.1434G>A c.1621G>A (p.Glu541Lys) c.*4830G>A (n.*4830G>A) n.200G>A c.1360G>A (p.Glu454Lys) c.5-3684G>A (n.5-3684G>A) c.520G>A (p.Glu174Lys) c.-98-17445G>A (n.-98-17445G>A) n.5183G>A n.5224G>A | ClinVar dbSNP |
| 17 | g.43067635C= | CA2260771341 | BRCA1 | c.5044G= (p.Glu1682=) c.5047G= (p.Glu1683=) c.4921G= (p.Glu1641=) c.5041G= (p.Glu1681=) c.4969G= (p.Glu1657=) c.1735G= (p.Glu579=) c.1597G= (p.Glu533=) c.4159G= (p.Glu1387=) c.4924G= (p.Glu1642=) c.5113G= (p.Glu1705=) c.4906G= (p.Glu1636=) c.1609G= (p.Glu537=) c.5110G= (p.Glu1704=) c.1434G= c.1621G= (p.Glu541=) c.*4830G= (n.*4830G=) n.200G= c.1360G= (p.Glu454=) c.5-3684G= (n.5-3684G=) c.520G= (p.Glu174=) c.-98-17445G= (n.-98-17445G=) n.5183G= n.5224G= | dbSNP |