| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169178001G>A | CA340914 | LRP2 | c.10195C>T (p.Arg3399Ter) c.1095C>T n.396C>T c.7906C>T (p.Arg2636Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.169178001G>T | CA1953402 | LRP2 | c.10195C>A (p.Arg3399=) c.1095C>A n.396C>A c.7906C>A (p.Arg2636=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.169178001G= | CA1306319705 | LRP2 | c.10195C= (p.Arg3399=) c.1095C= n.396C= c.7906C= (p.Arg2636=) | dbSNP |