| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68363791C>G | CA381610991 | LRP5 | c.731C>G (p.Thr244Arg) c.-1035C>G (n.-1035C>G) c.758C>G (p.Thr253Arg) n.773C>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68363791C>T | CA130818 | LRP5 | c.731C>T (p.Thr244Met) c.-1035C>T (n.-1035C>T) c.758C>T (p.Thr253Met) n.773C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68363791C= | CA1980645814 | LRP5 | c.731C= (p.Thr244=) c.-1035C= (n.-1035C=) c.758C= (p.Thr253=) n.773C= | dbSNP |