Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57175646A>C | CA237745851 | LRP1 | c.3734A>C (p.Lys1245Thr) c.3785A>C (p.Lys1262Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57175646A>G | CA156255 | LRP1 | c.3734A>G (p.Lys1245Arg) c.3785A>G (p.Lys1262Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.57175646A= | CA2038750343 | LRP1 | c.3734A= (p.Lys1245=) c.3785A= (p.Lys1262=) | dbSNP |