Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.61744578A>C | CA400483361 | BRIP1 | c.1693T>G (n.1693T>G) c.2111T>G (p.Leu704Ter) c.2241T>G (n.2241T>G) n.851T>G n.1190T>G c.*1537T>G (n.*1537T>G) n.7988T>G c.1889T>G (p.Leu630Ter) c.2171T>G (p.Leu724Ter) n.241T>G n.524T>G c.1604T>G (p.Leu535Ter) c.176T>G (p.Leu59Ter) c.94T>G c.2051T>G (p.Leu684Ter) c.1970T>G (p.Leu657Ter) c.1688T>G (p.Leu563Ter) c.1628T>G (p.Leu543Ter) c.257T>G (p.Leu86Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.61744578A>T | CA16042174 | BRIP1 | c.1693T>A (n.1693T>A) c.2111T>A (p.Leu704Ter) c.2241T>A (n.2241T>A) n.851T>A n.1190T>A c.*1537T>A (n.*1537T>A) n.7988T>A c.1889T>A (p.Leu630Ter) c.2171T>A (p.Leu724Ter) n.241T>A n.524T>A c.1604T>A (p.Leu535Ter) c.176T>A (p.Leu59Ter) c.94T>A c.2051T>A (p.Leu684Ter) c.1970T>A (p.Leu657Ter) c.1688T>A (p.Leu563Ter) c.1628T>A (p.Leu543Ter) c.257T>A (p.Leu86Ter) | ClinVar dbSNP |