Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490319C>T | CA344146 | AIP | c.626C>T c.460C>T (p.Gln154Ter) n.1161C>T c.469-678C>T (n.469-678C>T) c.280C>T (p.Gln94Ter) c.649C>T (p.Gln217Ter) c.472C>T (p.Gln158Ter) c.469C>T (p.Gln157Ter) c.301C>T (p.Gln101Ter) | ClinVar dbSNP |
11 | g.67490319C>G | CA381551473 | AIP | c.626C>G c.460C>G (p.Gln154Glu) n.1161C>G c.469-678C>G (n.469-678C>G) c.280C>G (p.Gln94Glu) c.649C>G (p.Gln217Glu) c.472C>G (p.Gln158Glu) c.469C>G (p.Gln157Glu) c.301C>G (p.Gln101Glu) | ClinVar dbSNP |
11 | g.67490319C>A | CA381551472 | AIP | c.626C>A c.460C>A (p.Gln154Lys) n.1161C>A c.469-678C>A (n.469-678C>A) c.280C>A (p.Gln94Lys) c.649C>A (p.Gln217Lys) c.472C>A (p.Gln158Lys) c.469C>A (p.Gln157Lys) c.301C>A (p.Gln101Lys) | ClinVar dbSNP |
11 | g.67490319C= | CA1980172404 | AIP | c.626C= c.460C= (p.Gln154=) n.1161C= c.469-678C= (n.469-678C=) c.280C= (p.Gln94=) c.649C= (p.Gln217=) c.472C= (p.Gln158=) c.469C= (p.Gln157=) c.301C= (p.Gln101=) | dbSNP |