Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169196995C>A | CA59925746 | LRP2 | c.8614G>T (p.Ala2872Ser) c.6325G>T (p.Ala2109Ser) | dbSNP |
2 | g.169196995C>T | CA153615 | LRP2 | c.8614G>A (p.Ala2872Thr) c.6325G>A (p.Ala2109Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169196995C>G | CA59925748 | LRP2 | c.8614G>C (p.Ala2872Pro) c.6325G>C (p.Ala2109Pro) | dbSNP |