| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11107432C>T | CA029921 | LDLR | c.1116C>T (p.Ser372=) c.858C>T (p.Ser286=) c.1112C>T c.354C>T (p.Ser118=) c.735C>T (p.Ser245=) c.477C>T (p.Ser159=) n.373C>T c.458C>T n.1008C>T n.975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107432C>A | CA029904 | LDLR | c.1116C>A (p.Ser372Arg) c.858C>A (p.Ser286Arg) c.1112C>A c.354C>A (p.Ser118Arg) c.735C>A (p.Ser245Arg) c.477C>A (p.Ser159Arg) n.373C>A c.458C>A n.1008C>A n.975C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |