| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.107915506G>C | CA368856709 | DLD | c.685G>C (p.Gly229Arg) c.*359G>C (n.*359G>C) c.541G>C (p.Gly181Arg) c.616G>C (p.Gly206Arg) c.*428G>C (n.*428G>C) c.388G>C (p.Gly130Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915506G>A | CA368856708 | DLD | c.685G>A (p.Gly229Ser) c.*359G>A (n.*359G>A) c.541G>A (p.Gly181Ser) c.616G>A (p.Gly206Ser) c.*428G>A (n.*428G>A) c.388G>A (p.Gly130Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915506G>T | CA312461 | DLD | c.685G>T (p.Gly229Cys) c.*359G>T (n.*359G>T) c.541G>T (p.Gly181Cys) c.616G>T (p.Gly206Cys) c.*428G>T (n.*428G>T) c.388G>T (p.Gly130Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |