| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838220C>G | CA16027077 | APC | c.2291C>G (n.2291C>G) c.2680C>G (p.Arg894Gly) c.*2632C>G (n.*2632C>G) c.2572C>G (p.Arg858Gly) c.2626C>G (p.Arg876Gly) c.979C>G c.*1948C>G (n.*1948C>G) c.230+9248C>G c.2656C>G (p.Arg886Gly) c.2551C>G (p.Arg851Gly) c.2542C>G (p.Arg848Gly) c.2503C>G (p.Arg835Gly) c.2449C>G (p.Arg817Gly) c.2353C>G (p.Arg785Gly) c.2323C>G (p.Arg775Gly) c.2248C>G (p.Arg750Gly) c.2146C>G (p.Arg716Gly) c.1777C>G (p.Arg593Gly) | ClinVar dbSNP |
| 5 | g.112838220C>T | CA338207 | APC | c.2291C>T (n.2291C>T) c.2680C>T (p.Arg894Ter) c.*2632C>T (n.*2632C>T) c.2572C>T (p.Arg858Ter) c.2626C>T (p.Arg876Ter) c.979C>T c.*1948C>T (n.*1948C>T) c.230+9248C>T c.2656C>T (p.Arg886Ter) c.2551C>T (p.Arg851Ter) c.2542C>T (p.Arg848Ter) c.2503C>T (p.Arg835Ter) c.2449C>T (p.Arg817Ter) c.2353C>T (p.Arg785Ter) c.2323C>T (p.Arg775Ter) c.2248C>T (p.Arg750Ter) c.2146C>T (p.Arg716Ter) c.1777C>T (p.Arg593Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838220C>A | CA445962964 | APC | c.2291C>A (n.2291C>A) c.2680C>A (p.Arg894=) c.*2632C>A (n.*2632C>A) c.2572C>A (p.Arg858=) c.2626C>A (p.Arg876=) c.979C>A c.*1948C>A (n.*1948C>A) c.230+9248C>A c.2656C>A (p.Arg886=) c.2551C>A (p.Arg851=) c.2542C>A (p.Arg848=) c.2503C>A (p.Arg835=) c.2449C>A (p.Arg817=) c.2353C>A (p.Arg785=) c.2323C>A (p.Arg775=) c.2248C>A (p.Arg750=) c.2146C>A (p.Arg716=) c.1777C>A (p.Arg593=) | ClinVar dbSNP gnomAD v4 |