| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68411574C>T | CA475463272 | LRP5 | c.2457C>T (p.Tyr819=) n.251C>T c.*1063C>T (n.*1063C>T) c.714C>T (p.Tyr238=) c.2484C>T (p.Tyr828=) n.2499C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.68411574C>G | CA16043764 | LRP5 | c.2457C>G (p.Tyr819Ter) n.251C>G c.*1063C>G (n.*1063C>G) c.714C>G (p.Tyr238Ter) c.2484C>G (p.Tyr828Ter) n.2499C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |