Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169204093T>A | CA1953983 | LRP2 | c.7894A>T (p.Asn2632Tyr) c.5605A>T (p.Asn1869Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169204093T>C | CA153613 | LRP2 | c.7894A>G (p.Asn2632Asp) c.5605A>G (p.Asn1869Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169204093T>G | CA1953984 | LRP2 | c.7894A>C (p.Asn2632His) c.5605A>C (p.Asn1869His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |