| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105232G>T | CA10584857 | LDLR | c.584G>T (p.Cys195Phe) c.326G>T (p.Cys109Phe) c.580G>T c.314-2160G>T (n.314-2160G>T) c.203G>T (p.Cys68Phe) c.314-1333G>T (n.314-1333G>T) n.476G>T n.443G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105232G>C | CA023694 | LDLR | c.584G>C (p.Cys195Ser) c.326G>C (p.Cys109Ser) c.580G>C c.314-2160G>C (n.314-2160G>C) c.203G>C (p.Cys68Ser) c.314-1333G>C (n.314-1333G>C) n.476G>C n.443G>C | ClinVar dbSNP |
| 19 | g.11105232G>A | CA043125 | LDLR | c.584G>A (p.Cys195Tyr) c.326G>A (p.Cys109Tyr) c.580G>A c.314-2160G>A (n.314-2160G>A) c.203G>A (p.Cys68Tyr) c.314-1333G>A (n.314-1333G>A) n.476G>A n.443G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |