| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105572C>A | CA044280 | LDLR | c.924C>A (p.Cys308Ter) c.666C>A (p.Cys222Ter) c.920C>A c.314-1820C>A (n.314-1820C>A) c.543C>A (p.Cys181Ter) c.314-993C>A (n.314-993C>A) c.266C>A n.816C>A n.783C>A | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.11105572C>G | CA10585054 | LDLR | c.924C>G (p.Cys308Trp) c.666C>G (p.Cys222Trp) c.920C>G c.314-1820C>G (n.314-1820C>G) c.543C>G (p.Cys181Trp) c.314-993C>G (n.314-993C>G) c.266C>G n.816C>G n.783C>G | ClinVar dbSNP |
| 19 | g.11105572C>T | CA505743509 | LDLR | c.924C>T (p.Cys308=) c.666C>T (p.Cys222=) c.920C>T c.314-1820C>T (n.314-1820C>T) c.543C>T (p.Cys181=) c.314-993C>T (n.314-993C>T) c.266C>T n.816C>T n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11105572C= | CA2322767603 | LDLR | c.924C= (p.Cys308=) c.666C= (p.Cys222=) c.920C= c.314-1820C= (n.314-1820C=) c.543C= (p.Cys181=) c.314-993C= (n.314-993C=) c.266C= n.816C= n.783C= | dbSNP |