Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112838985C>A | CA16028761 | APC | c.3056C>A (n.3056C>A) c.3445C>A (p.Gln1149Lys) c.*3397C>A (n.*3397C>A) c.3337C>A (p.Gln1113Lys) c.3391C>A (p.Gln1131Lys) c.1744C>A c.*2713C>A (n.*2713C>A) c.230+10013C>A c.3421C>A (p.Gln1141Lys) c.3316C>A (p.Gln1106Lys) c.3307C>A (p.Gln1103Lys) c.3268C>A (p.Gln1090Lys) c.3214C>A (p.Gln1072Lys) c.3118C>A (p.Gln1040Lys) c.3088C>A (p.Gln1030Lys) c.3013C>A (p.Gln1005Lys) c.2911C>A (p.Gln971Lys) c.2542C>A (p.Gln848Lys) | dbSNP |
5 | g.112838985C>T | CA10582307 | APC | c.3056C>T (n.3056C>T) c.3445C>T (p.Gln1149Ter) c.*3397C>T (n.*3397C>T) c.3337C>T (p.Gln1113Ter) c.3391C>T (p.Gln1131Ter) c.1744C>T c.*2713C>T (n.*2713C>T) c.230+10013C>T c.3421C>T (p.Gln1141Ter) c.3316C>T (p.Gln1106Ter) c.3307C>T (p.Gln1103Ter) c.3268C>T (p.Gln1090Ter) c.3214C>T (p.Gln1072Ter) c.3118C>T (p.Gln1040Ter) c.3088C>T (p.Gln1030Ter) c.3013C>T (p.Gln1005Ter) c.2911C>T (p.Gln971Ter) c.2542C>T (p.Gln848Ter) | ClinVar dbSNP COSMIC |