| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112828919C>T | CA005451 | APC | c.1409-6032C>T (n.1409-6032C>T) c.1744C>T (p.Arg582Ter) n.1746C>T c.*1696C>T (n.*1696C>T) c.1636C>T (p.Arg546Ter) c.1690C>T (p.Arg564Ter) c.97-6032C>T c.379C>T (p.Arg127Ter) n.177C>T c.*1012C>T (n.*1012C>T) c.177C>T c.1720C>T (p.Arg574Ter) c.1615C>T (p.Arg539Ter) c.1606C>T (p.Arg536Ter) c.1567C>T (p.Arg523Ter) c.1513C>T (p.Arg505Ter) c.1417C>T (p.Arg473Ter) c.1387C>T (p.Arg463Ter) c.1312C>T (p.Arg438Ter) c.1210C>T (p.Arg404Ter) c.841C>T (p.Arg281Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112828919C>A | CA445757406 | APC | c.1409-6032C>A (n.1409-6032C>A) c.1744C>A (p.Arg582=) n.1746C>A c.*1696C>A (n.*1696C>A) c.1636C>A (p.Arg546=) c.1690C>A (p.Arg564=) c.97-6032C>A c.379C>A (p.Arg127=) n.177C>A c.*1012C>A (n.*1012C>A) c.177C>A c.1720C>A (p.Arg574=) c.1615C>A (p.Arg539=) c.1606C>A (p.Arg536=) c.1567C>A (p.Arg523=) c.1513C>A (p.Arg505=) c.1417C>A (p.Arg473=) c.1387C>A (p.Arg463=) c.1312C>A (p.Arg438=) c.1210C>A (p.Arg404=) c.841C>A (p.Arg281=) | dbSNP |
| 5 | g.112828919C>G | CA16025002 | APC | c.1409-6032C>G (n.1409-6032C>G) c.1744C>G (p.Arg582Gly) n.1746C>G c.*1696C>G (n.*1696C>G) c.1636C>G (p.Arg546Gly) c.1690C>G (p.Arg564Gly) c.97-6032C>G c.379C>G (p.Arg127Gly) n.177C>G c.*1012C>G (n.*1012C>G) c.177C>G c.1720C>G (p.Arg574Gly) c.1615C>G (p.Arg539Gly) c.1606C>G (p.Arg536Gly) c.1567C>G (p.Arg523Gly) c.1513C>G (p.Arg505Gly) c.1417C>G (p.Arg473Gly) c.1387C>G (p.Arg463Gly) c.1312C>G (p.Arg438Gly) c.1210C>G (p.Arg404Gly) c.841C>G (p.Arg281Gly) | dbSNP |