Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11105441G>T | CA10584980 | LDLR | c.793G>T (p.Glu265Ter) c.535G>T (p.Glu179Ter) c.789G>T c.314-1951G>T (n.314-1951G>T) c.412G>T (p.Glu138Ter) c.314-1124G>T (n.314-1124G>T) c.135G>T n.685G>T n.652G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105441G>A | CA10584979 | LDLR | c.793G>A (p.Glu265Lys) c.535G>A (p.Glu179Lys) c.789G>A c.314-1951G>A (n.314-1951G>A) c.412G>A (p.Glu138Lys) c.314-1124G>A (n.314-1124G>A) c.135G>A n.685G>A n.652G>A | ClinVar dbSNP |
19 | g.11105441G= | CA2322767471 | LDLR | c.793G= (p.Glu265=) c.535G= (p.Glu179=) c.789G= c.314-1951G= (n.314-1951G=) c.412G= (p.Glu138=) c.314-1124G= (n.314-1124G=) c.135G= n.685G= n.652G= | dbSNP |