| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112840326T>G | CA009712 | APC | c.4786T>G (p.Cys1596Gly) c.*4738T>G (n.*4738T>G) c.4678T>G (p.Cys1560Gly) c.4732T>G (p.Cys1578Gly) c.*4054T>G (n.*4054T>G) c.230+11354T>G c.4762T>G (p.Cys1588Gly) c.4657T>G (p.Cys1553Gly) c.4648T>G (p.Cys1550Gly) c.4609T>G (p.Cys1537Gly) c.4555T>G (p.Cys1519Gly) c.4459T>G (p.Cys1487Gly) c.4429T>G (p.Cys1477Gly) c.4354T>G (p.Cys1452Gly) c.4252T>G (p.Cys1418Gly) c.3883T>G (p.Cys1295Gly) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840326T>C | CA16031711 | APC | c.4786T>C (p.Cys1596Arg) c.*4738T>C (n.*4738T>C) c.4678T>C (p.Cys1560Arg) c.4732T>C (p.Cys1578Arg) c.*4054T>C (n.*4054T>C) c.230+11354T>C c.4762T>C (p.Cys1588Arg) c.4657T>C (p.Cys1553Arg) c.4648T>C (p.Cys1550Arg) c.4609T>C (p.Cys1537Arg) c.4555T>C (p.Cys1519Arg) c.4459T>C (p.Cys1487Arg) c.4429T>C (p.Cys1477Arg) c.4354T>C (p.Cys1452Arg) c.4252T>C (p.Cys1418Arg) c.3883T>C (p.Cys1295Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840326T>A | CA16031710 | APC | c.4786T>A (p.Cys1596Ser) c.*4738T>A (n.*4738T>A) c.4678T>A (p.Cys1560Ser) c.4732T>A (p.Cys1578Ser) c.*4054T>A (n.*4054T>A) c.230+11354T>A c.4762T>A (p.Cys1588Ser) c.4657T>A (p.Cys1553Ser) c.4648T>A (p.Cys1550Ser) c.4609T>A (p.Cys1537Ser) c.4555T>A (p.Cys1519Ser) c.4459T>A (p.Cys1487Ser) c.4429T>A (p.Cys1477Ser) c.4354T>A (p.Cys1452Ser) c.4252T>A (p.Cys1418Ser) c.3883T>A (p.Cys1295Ser) | dbSNP |