| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129669C>T | CA040999 | LDLR | c.2804C>T (p.Ser935Leu) c.*615C>T (n.*615C>T) c.2426C>T (p.Ser809Leu) c.2546C>T (p.Ser849Leu) c.2800C>T c.2042C>T (p.Ser681Leu) c.2423C>T (p.Ser808Leu) c.2012C>T (p.Ser671Leu) c.2608C>T (p.Arg870Ter) n.108+2015C>T c.2468C>T (p.Ser823Leu) c.2165C>T (p.Ser722Leu) n.2880C>T n.2523C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11129669C>A | CA10585878 | LDLR | c.2804C>A (p.Ser935Ter) c.*615C>A (n.*615C>A) c.2426C>A (p.Ser809Ter) c.2546C>A (p.Ser849Ter) c.2800C>A c.2042C>A (p.Ser681Ter) c.2423C>A (p.Ser808Ter) c.2012C>A (p.Ser671Ter) c.2608C>A (p.Arg870=) n.108+2015C>A c.2468C>A (p.Ser823Ter) c.2165C>A (p.Ser722Ter) n.2880C>A n.2523C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11129669C= | CA2322780337 | LDLR | c.2804C= (p.Ser935=) c.*615C= (n.*615C=) c.2426C= (p.Ser809=) c.2546C= (p.Ser849=) c.2800C= c.2042C= (p.Ser681=) c.2423C= (p.Ser808=) c.2012C= (p.Ser671=) c.2608C= (p.Arg870=) n.108+2015C= c.2468C= (p.Ser823=) c.2165C= (p.Ser722=) n.2880C= n.2523C= | dbSNP dbSNP |