Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112815499C>T | CA10578299 | APC | c.839C>T (p.Ser280Leu) n.895C>T c.*845C>T (n.*845C>T) c.785C>T (p.Ser262Leu) c.*161C>T (n.*161C>T) c.869C>T (p.Ser290Leu) c.764C>T (p.Ser255Leu) c.755C>T (p.Ser252Leu) c.662C>T (p.Ser221Leu) c.-11C>T (n.-11C>T) | ClinVar dbSNP gnomAD v4 |
5 | g.112815499C>G | CA015451 | APC | c.839C>G (p.Ser280Ter) n.895C>G c.*845C>G (n.*845C>G) c.785C>G (p.Ser262Ter) c.*161C>G (n.*161C>G) c.869C>G (p.Ser290Ter) c.764C>G (p.Ser255Ter) c.755C>G (p.Ser252Ter) c.662C>G (p.Ser221Ter) c.-11C>G (n.-11C>G) | ClinVar dbSNP |