Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.132659414C>A | CA482733181 | POLE | c.777G>T (p.Thr259=) c.3010G>T c.3156G>T (p.Thr1052=) c.*2658G>T (n.*2658G>T) c.3075G>T (p.Thr1025=) n.1500G>T c.*2203G>T (n.*2203G>T) c.3027G>T (p.Thr1009=) c.2235G>T (p.Thr745=) c.1818G>T (p.Thr606=) c.144G>T (p.Thr48=) n.3365G>T n.3360G>T | ClinVar dbSNP |
12 | g.132659414C>T | CA6893345 | POLE | c.777G>A (p.Thr259=) c.3010G>A c.3156G>A (p.Thr1052=) c.*2658G>A (n.*2658G>A) c.3075G>A (p.Thr1025=) n.1500G>A c.*2203G>A (n.*2203G>A) c.3027G>A (p.Thr1009=) c.2235G>A (p.Thr745=) c.1818G>A (p.Thr606=) c.144G>A (p.Thr48=) n.3365G>A n.3360G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |