| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074397G>A | CA002926 | BRCA1 | c.4606C>T (p.Gln1536Ter) c.4609C>T (p.Gln1537Ter) c.4483C>T (p.Gln1495Ter) c.4603C>T (p.Gln1535Ter) c.4531C>T (p.Gln1511Ter) c.1297C>T (p.Gln433Ter) c.1159C>T (p.Gln387Ter) c.3721C>T (p.Gln1241Ter) c.4486C>T (p.Gln1496Ter) c.4675C>T (p.Gln1559Ter) c.4468C>T (p.Gln1490Ter) c.1171C>T (p.Gln391Ter) c.1216C>T (p.Gln406Ter) c.4672C>T (p.Gln1558Ter) c.996C>T c.1183C>T (p.Gln395Ter) c.*4392C>T (n.*4392C>T) c.922C>T (p.Gln308Ter) c.5-10446C>T (n.5-10446C>T) c.82C>T (p.Gln28Ter) c.-98-24207C>T (n.-98-24207C>T) n.4745C>T n.4786C>T | ClinVar dbSNP |
| 17 | g.43074397G>C | CA10592294 | BRCA1 | c.4606C>G (p.Gln1536Glu) c.4609C>G (p.Gln1537Glu) c.4483C>G (p.Gln1495Glu) c.4603C>G (p.Gln1535Glu) c.4531C>G (p.Gln1511Glu) c.1297C>G (p.Gln433Glu) c.1159C>G (p.Gln387Glu) c.3721C>G (p.Gln1241Glu) c.4486C>G (p.Gln1496Glu) c.4675C>G (p.Gln1559Glu) c.4468C>G (p.Gln1490Glu) c.1171C>G (p.Gln391Glu) c.1216C>G (p.Gln406Glu) c.4672C>G (p.Gln1558Glu) c.996C>G c.1183C>G (p.Gln395Glu) c.*4392C>G (n.*4392C>G) c.922C>G (p.Gln308Glu) c.5-10446C>G (n.5-10446C>G) c.82C>G (p.Gln28Glu) c.-98-24207C>G (n.-98-24207C>G) n.4745C>G n.4786C>G | dbSNP |