| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120435C>A | CA10585747 | LDLR | c.2311C>A (p.Pro771Thr) c.*122C>A (n.*122C>A) c.1933C>A (p.Pro645Thr) c.2053C>A (p.Pro685Thr) c.2307C>A c.1549C>A (p.Pro517Thr) c.1930C>A (p.Pro644Thr) c.1606+202C>A (n.1606+202C>A) c.1672C>A (p.Pro558Thr) n.2063C>A n.2170C>A n.2030C>A | ClinVar dbSNP |
| 19 | g.11120435C>T | CA10585748 | LDLR | c.2311C>T (p.Pro771Ser) c.*122C>T (n.*122C>T) c.1933C>T (p.Pro645Ser) c.2053C>T (p.Pro685Ser) c.2307C>T c.1549C>T (p.Pro517Ser) c.1930C>T (p.Pro644Ser) c.1606+202C>T (n.1606+202C>T) c.1672C>T (p.Pro558Ser) n.2063C>T n.2170C>T n.2030C>T | ClinVar dbSNP |