| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063898C>T | CA053953 | BRCA1 | c.5125G>A (p.Gly1709Arg) c.5128G>A (p.Gly1710Arg) c.5002G>A (p.Gly1668Arg) c.5122G>A (p.Gly1708Arg) c.5050G>A (p.Gly1684Arg) c.1816G>A (p.Gly606Arg) c.1678G>A (p.Gly560Arg) c.4240G>A (p.Gly1414Arg) c.5005G>A (p.Gly1669Arg) c.5194G>A (p.Gly1732Arg) c.4987G>A (p.Gly1663Arg) c.1690G>A (p.Gly564Arg) c.5191G>A (p.Gly1731Arg) c.1515G>A c.1702G>A (p.Gly568Arg) c.*4911G>A (n.*4911G>A) c.1441G>A (p.Gly481Arg) c.58G>A (p.Gly20Arg) c.601G>A (p.Gly201Arg) c.-98-13708G>A (n.-98-13708G>A) n.5264G>A n.5305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43063898C>G | CA10591285 | BRCA1 | c.5125G>C (p.Gly1709Arg) c.5128G>C (p.Gly1710Arg) c.5002G>C (p.Gly1668Arg) c.5122G>C (p.Gly1708Arg) c.5050G>C (p.Gly1684Arg) c.1816G>C (p.Gly606Arg) c.1678G>C (p.Gly560Arg) c.4240G>C (p.Gly1414Arg) c.5005G>C (p.Gly1669Arg) c.5194G>C (p.Gly1732Arg) c.4987G>C (p.Gly1663Arg) c.1690G>C (p.Gly564Arg) c.5191G>C (p.Gly1731Arg) c.1515G>C c.1702G>C (p.Gly568Arg) c.*4911G>C (n.*4911G>C) c.1441G>C (p.Gly481Arg) c.58G>C (p.Gly20Arg) c.601G>C (p.Gly201Arg) c.-98-13708G>C (n.-98-13708G>C) n.5264G>C n.5305G>C | ClinVar dbSNP |
| 17 | g.43063898C>A | CA003256 | BRCA1 | c.5125G>T (p.Gly1709Ter) c.5128G>T (p.Gly1710Ter) c.5002G>T (p.Gly1668Ter) c.5122G>T (p.Gly1708Ter) c.5050G>T (p.Gly1684Ter) c.1816G>T (p.Gly606Ter) c.1678G>T (p.Gly560Ter) c.4240G>T (p.Gly1414Ter) c.5005G>T (p.Gly1669Ter) c.5194G>T (p.Gly1732Ter) c.4987G>T (p.Gly1663Ter) c.1690G>T (p.Gly564Ter) c.5191G>T (p.Gly1731Ter) c.1515G>T c.1702G>T (p.Gly568Ter) c.*4911G>T (n.*4911G>T) c.1441G>T (p.Gly481Ter) c.58G>T (p.Gly20Ter) c.601G>T (p.Gly201Ter) c.-98-13708G>T (n.-98-13708G>T) n.5264G>T n.5305G>T | ClinVar dbSNP |