Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11105470C>G | CA023723 | LDLR | c.822C>G (p.Tyr274Ter) c.564C>G (p.Tyr188Ter) c.818C>G c.314-1922C>G (n.314-1922C>G) c.441C>G (p.Tyr147Ter) c.314-1095C>G (n.314-1095C>G) c.164C>G n.714C>G n.681C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105470C>A | CA10584990 | LDLR | c.822C>A (p.Tyr274Ter) c.564C>A (p.Tyr188Ter) c.818C>A c.314-1922C>A (n.314-1922C>A) c.441C>A (p.Tyr147Ter) c.314-1095C>A (n.314-1095C>A) c.164C>A n.714C>A n.681C>A | ClinVar dbSNP |
19 | g.11105470C>T | CA043947 | LDLR | c.822C>T (p.Tyr274=) c.564C>T (p.Tyr188=) c.818C>T c.314-1922C>T (n.314-1922C>T) c.441C>T (p.Tyr147=) c.314-1095C>T (n.314-1095C>T) c.164C>T n.714C>T n.681C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |