| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120121C>T | CA023600 | LDLR | c.2133C>T (p.Asn711=) c.1735C>T (p.Arg579Ter) c.1755C>T (p.Asn585=) c.1875C>T (p.Asn625=) c.2129C>T c.1371C>T (p.Asn457=) c.1752C>T (p.Asn584=) c.1494C>T (p.Asn498=) c.456C>T n.1885C>T n.1992C>T n.1852C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11120121C= | CA2322775361 | LDLR | c.2133C= (p.Asn711=) c.1735C= (p.Arg579=) c.1755C= (p.Asn585=) c.1875C= (p.Asn625=) c.2129C= c.1371C= (p.Asn457=) c.1752C= (p.Asn584=) c.1494C= (p.Asn498=) c.456C= n.1885C= n.1992C= n.1852C= | dbSNP |