| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105457G>C | CA404077216 | LDLR | c.809G>C (p.Cys270Ser) c.551G>C (p.Cys184Ser) c.805G>C c.314-1935G>C (n.314-1935G>C) c.428G>C (p.Cys143Ser) c.314-1108G>C (n.314-1108G>C) c.151G>C n.701G>C n.668G>C | ClinVar dbSNP |
| 19 | g.11105457G>A | CA023721 | LDLR | c.809G>A (p.Cys270Tyr) c.551G>A (p.Cys184Tyr) c.805G>A c.314-1935G>A (n.314-1935G>A) c.428G>A (p.Cys143Tyr) c.314-1108G>A (n.314-1108G>A) c.151G>A n.701G>A n.668G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |