| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43082503G>A | CA002737 | BRCA1 | c.4258C>T (p.Gln1420Ter) c.4132C>T (p.Gln1378Ter) c.4252C>T (p.Gln1418Ter) c.4180C>T (p.Gln1394Ter) c.946C>T (p.Gln316Ter) c.808C>T (p.Gln270Ter) c.3370C>T (p.Gln1124Ter) c.4135C>T (p.Gln1379Ter) c.4117C>T (p.Gln1373Ter) c.823C>T (p.Gln275Ter) c.868C>T (p.Gln290Ter) c.579C>T c.832C>T (p.Gln278Ter) c.*4041C>T (n.*4041C>T) c.552C>T c.949C>T (p.Gln317Ter) c.571C>T (p.Gln191Ter) c.574C>T (p.Gln192Ter) c.5-18552C>T (n.5-18552C>T) c.-43-7982C>T (n.-43-7982C>T) c.-98-32313C>T (n.-98-32313C>T) n.152C>T n.4394C>T n.4435C>T | ClinVar dbSNP |
| 17 | g.43082503G>C | CA10580528 | BRCA1 | c.4258C>G (p.Gln1420Glu) c.4132C>G (p.Gln1378Glu) c.4252C>G (p.Gln1418Glu) c.4180C>G (p.Gln1394Glu) c.946C>G (p.Gln316Glu) c.808C>G (p.Gln270Glu) c.3370C>G (p.Gln1124Glu) c.4135C>G (p.Gln1379Glu) c.4117C>G (p.Gln1373Glu) c.823C>G (p.Gln275Glu) c.868C>G (p.Gln290Glu) c.579C>G c.832C>G (p.Gln278Glu) c.*4041C>G (n.*4041C>G) c.552C>G c.949C>G (p.Gln317Glu) c.571C>G (p.Gln191Glu) c.574C>G (p.Gln192Glu) c.5-18552C>G (n.5-18552C>G) c.-43-7982C>G (n.-43-7982C>G) c.-98-32313C>G (n.-98-32313C>G) n.152C>G n.4394C>G n.4435C>G | ClinVar dbSNP gnomAD v4 |