| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.169154475T>C | CA153548 | LRP2 | c.12280A>G (p.Lys4094Glu) c.3180A>G c.1308A>G (p.Pro436=) c.12151A>G (p.Lys4051Glu) c.9991A>G (p.Lys3331Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.169154475T>A | CA349136984 | LRP2 | c.12280A>T (p.Lys4094Ter) c.3180A>T c.1308A>T (p.Pro436=) c.12151A>T (p.Lys4051Ter) c.9991A>T (p.Lys3331Ter) | dbSNP gnomAD v4 |