| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11110715G>A | CA358775 | LDLR | c.1262G>A (p.Gly421Asp) c.1004G>A (p.Gly335Asp) c.941-799G>A (n.941-799G>A) c.1258G>A c.500G>A (p.Gly167Asp) c.881G>A (p.Gly294Asp) c.623G>A (p.Gly208Asp) n.3G>A c.541-799G>A n.1154G>A n.1121G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11110715G>T | CA10585240 | LDLR | c.1262G>T (p.Gly421Val) c.1004G>T (p.Gly335Val) c.941-799G>T (n.941-799G>T) c.1258G>T c.500G>T (p.Gly167Val) c.881G>T (p.Gly294Val) c.623G>T (p.Gly208Val) n.3G>T c.541-799G>T n.1154G>T n.1121G>T | ClinVar dbSNP |