Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11113390C>G | CA033475 | LDLR | c.1557C>G (p.Asp519Glu) c.1299C>G (p.Asp433Glu) c.1179C>G (p.Asp393Glu) c.1553C>G c.795C>G (p.Asp265Glu) c.1176C>G (p.Asp392Glu) c.918C>G (p.Asp306Glu) c.20C>G n.298C>G c.779C>G n.1449C>G n.1416C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11113390C>T | CA505743219 | LDLR | c.1557C>T (p.Asp519=) c.1299C>T (p.Asp433=) c.1179C>T (p.Asp393=) c.1553C>T c.795C>T (p.Asp265=) c.1176C>T (p.Asp392=) c.918C>T (p.Asp306=) c.20C>T n.298C>T c.779C>T n.1449C>T n.1416C>T | dbSNP gnomAD v4 |