| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112842570C>A | CA446210624 | APC | c.7030C>A (p.Arg2344=) c.*6982C>A (n.*6982C>A) c.6922C>A (p.Arg2308=) c.6976C>A (p.Arg2326=) c.*6298C>A (n.*6298C>A) c.230+13598C>A c.7006C>A (p.Arg2336=) c.6901C>A (p.Arg2301=) c.6892C>A (p.Arg2298=) c.6853C>A (p.Arg2285=) c.6799C>A (p.Arg2267=) c.6703C>A (p.Arg2235=) c.6673C>A (p.Arg2225=) c.6598C>A (p.Arg2200=) c.6496C>A (p.Arg2166=) c.6127C>A (p.Arg2043=) | ClinVar dbSNP |
| 5 | g.112842570C>T | CA16036541 | APC | c.7030C>T (p.Arg2344Ter) c.*6982C>T (n.*6982C>T) c.6922C>T (p.Arg2308Ter) c.6976C>T (p.Arg2326Ter) c.*6298C>T (n.*6298C>T) c.230+13598C>T c.7006C>T (p.Arg2336Ter) c.6901C>T (p.Arg2301Ter) c.6892C>T (p.Arg2298Ter) c.6853C>T (p.Arg2285Ter) c.6799C>T (p.Arg2267Ter) c.6703C>T (p.Arg2235Ter) c.6673C>T (p.Arg2225Ter) c.6598C>T (p.Arg2200Ter) c.6496C>T (p.Arg2166Ter) c.6127C>T (p.Arg2043Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112842570C>G | CA16036540 | APC | c.7030C>G (p.Arg2344Gly) c.*6982C>G (n.*6982C>G) c.6922C>G (p.Arg2308Gly) c.6976C>G (p.Arg2326Gly) c.*6298C>G (n.*6298C>G) c.230+13598C>G c.7006C>G (p.Arg2336Gly) c.6901C>G (p.Arg2301Gly) c.6892C>G (p.Arg2298Gly) c.6853C>G (p.Arg2285Gly) c.6799C>G (p.Arg2267Gly) c.6703C>G (p.Arg2235Gly) c.6673C>G (p.Arg2225Gly) c.6598C>G (p.Arg2200Gly) c.6496C>G (p.Arg2166Gly) c.6127C>G (p.Arg2043Gly) | ClinVar dbSNP gnomAD v4 |