| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11129602G>A | CA023677 | LDLR | c.2737G>A (p.Val913Ile) c.*548G>A (n.*548G>A) c.2359G>A (p.Val787Ile) c.2479G>A (p.Val827Ile) c.2733G>A c.1975G>A (p.Val659Ile) c.2356G>A (p.Val786Ile) c.1945G>A (p.Val649Ile) c.2541G>A (p.Pro847=) n.108+1948G>A c.2401G>A (p.Val801Ile) c.2098G>A (p.Val700Ile) n.2813G>A n.2456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11129602G>T | CA16602353 | LDLR | c.2737G>T (p.Val913Phe) c.*548G>T (n.*548G>T) c.2359G>T (p.Val787Phe) c.2479G>T (p.Val827Phe) c.2733G>T c.1975G>T (p.Val659Phe) c.2356G>T (p.Val786Phe) c.1945G>T (p.Val649Phe) c.2541G>T (p.Pro847=) n.108+1948G>T c.2401G>T (p.Val801Phe) c.2098G>T (p.Val700Phe) n.2813G>T n.2456G>T | ClinVar dbSNP gnomAD v4 |