| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169140522del | CA277054 | LRP2 | c.13139del (p.Pro4380HisfsTer?) c.4009-905del c.2137-7del (n.2137-7del) c.13010del (p.Pro4337HisfsTer?) c.10850del (p.Pro3617HisfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.169140522dup | CA342046 | LRP2 | c.13139dup (p.Cys4381MetfsTer12) c.4009-905dup c.2137-7dup (n.2137-7dup) c.13010dup (p.Cys4338MetfsTer12) c.10850dup (p.Cys3618MetfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |