Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.67490170A>T | CA344138 | AIP | c.578A>T c.412A>T (p.Lys138Ter) n.1113A>T c.468+715A>T (n.468+715A>T) c.232A>T (p.Lys78Ter) c.601A>T (p.Lys201Ter) c.424A>T (p.Lys142Ter) c.421A>T (p.Lys141Ter) c.253A>T (p.Lys85Ter) | ClinVar dbSNP |
11 | g.67490170A= | CA1980172329 | AIP | c.578A= c.412A= (p.Lys138=) n.1113A= c.468+715A= (n.468+715A=) c.232A= (p.Lys78=) c.601A= (p.Lys201=) c.424A= (p.Lys142=) c.421A= (p.Lys141=) c.253A= (p.Lys85=) | dbSNP |
11 | g.67490170A>C | CA381551102 | AIP | c.578A>C c.412A>C (p.Lys138Gln) n.1113A>C c.468+715A>C (n.468+715A>C) c.232A>C (p.Lys78Gln) c.601A>C (p.Lys201Gln) c.424A>C (p.Lys142Gln) c.421A>C (p.Lys141Gln) c.253A>C (p.Lys85Gln) | ClinVar dbSNP |