Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17213798G>C | CA288303722 | FLCN,MPRIP | c.1597C>G (p.Gln533Glu) c.*372+1187C>G (n.*372+1187C>G) c.562-3692G>C c.1651C>G (p.Gln551Glu) c.1592+1187C>G (n.1592+1187C>G) c.1375C>G (p.Gln459Glu) n.2867C>G n.2031C>G | dbSNP |
17 | g.17213798G>T | CA398530409 | FLCN,MPRIP | c.1597C>A (p.Gln533Lys) c.*372+1187C>A (n.*372+1187C>A) c.562-3692G>T c.1651C>A (p.Gln551Lys) c.1592+1187C>A (n.1592+1187C>A) c.1375C>A (p.Gln459Lys) n.2867C>A n.2031C>A | dbSNP |
17 | g.17213798G>A | CA224163 | FLCN,MPRIP | c.1597C>T (p.Gln533Ter) c.*372+1187C>T (n.*372+1187C>T) c.562-3692G>A c.1651C>T (p.Gln551Ter) c.1592+1187C>T (n.1592+1187C>T) c.1375C>T (p.Gln459Ter) n.2867C>T n.2031C>T | ClinVar dbSNP |