| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43063373C>A | CA10591235 | BRCA1 | c.5150G>T (p.Trp1717Leu) c.5153G>T (p.Trp1718Leu) c.5027G>T (p.Trp1676Leu) c.5147G>T (p.Trp1716Leu) c.5075G>T (p.Trp1692Leu) c.1841G>T (p.Trp614Leu) c.1703G>T (p.Trp568Leu) c.4265G>T (p.Trp1422Leu) c.5030G>T (p.Trp1677Leu) c.5219G>T (p.Trp1740Leu) c.5012G>T (p.Trp1671Leu) c.1715G>T (p.Trp572Leu) c.5216G>T (p.Trp1739Leu) c.1540G>T c.1727G>T (p.Trp576Leu) c.*4936G>T (n.*4936G>T) c.1466G>T (p.Trp489Leu) c.83G>T (p.Trp28Leu) c.626G>T (p.Trp209Leu) c.-98-13183G>T (n.-98-13183G>T) n.5289G>T n.5330G>T | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43063373C>T | CA003304 | BRCA1 | c.5150G>A (p.Trp1717Ter) c.5153G>A (p.Trp1718Ter) c.5027G>A (p.Trp1676Ter) c.5147G>A (p.Trp1716Ter) c.5075G>A (p.Trp1692Ter) c.1841G>A (p.Trp614Ter) c.1703G>A (p.Trp568Ter) c.4265G>A (p.Trp1422Ter) c.5030G>A (p.Trp1677Ter) c.5219G>A (p.Trp1740Ter) c.5012G>A (p.Trp1671Ter) c.1715G>A (p.Trp572Ter) c.5216G>A (p.Trp1739Ter) c.1540G>A c.1727G>A (p.Trp576Ter) c.*4936G>A (n.*4936G>A) c.1466G>A (p.Trp489Ter) c.83G>A (p.Trp28Ter) c.626G>A (p.Trp209Ter) c.-98-13183G>A (n.-98-13183G>A) n.5289G>A n.5330G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43063373C>G | CA003305 | BRCA1 | c.5150G>C (p.Trp1717Ser) c.5153G>C (p.Trp1718Ser) c.5027G>C (p.Trp1676Ser) c.5147G>C (p.Trp1716Ser) c.5075G>C (p.Trp1692Ser) c.1841G>C (p.Trp614Ser) c.1703G>C (p.Trp568Ser) c.4265G>C (p.Trp1422Ser) c.5030G>C (p.Trp1677Ser) c.5219G>C (p.Trp1740Ser) c.5012G>C (p.Trp1671Ser) c.1715G>C (p.Trp572Ser) c.5216G>C (p.Trp1739Ser) c.1540G>C c.1727G>C (p.Trp576Ser) c.*4936G>C (n.*4936G>C) c.1466G>C (p.Trp489Ser) c.83G>C (p.Trp28Ser) c.626G>C (p.Trp209Ser) c.-98-13183G>C (n.-98-13183G>C) n.5289G>C n.5330G>C | ClinVar dbSNP |