| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120224C>T | CA023618 | LDLR | c.2236C>T (p.Gln746Ter) c.*47C>T (n.*47C>T) c.1858C>T (p.Gln620Ter) c.1978C>T (p.Gln660Ter) c.2232C>T c.1474C>T (p.Gln492Ter) c.1855C>T (p.Gln619Ter) c.1597C>T (p.Gln533Ter) c.559C>T n.1988C>T n.2095C>T n.1955C>T | ClinVar dbSNP |
| 19 | g.11120224C>A | CA10585705 | LDLR | c.2236C>A (p.Gln746Lys) c.*47C>A (n.*47C>A) c.1858C>A (p.Gln620Lys) c.1978C>A (p.Gln660Lys) c.2232C>A c.1474C>A (p.Gln492Lys) c.1855C>A (p.Gln619Lys) c.1597C>A (p.Gln533Lys) c.559C>A n.1988C>A n.2095C>A n.1955C>A | ClinVar dbSNP |