Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.36265600G>C | CA411367173 | APOL1 | c.764G>C (p.Arg255Thr) c.*526G>C (n.*526G>C) c.851G>C (p.Arg284Thr) c.812G>C (p.Arg271Thr) c.710G>C (p.Arg237Thr) c.401G>C (p.Arg134Thr) | dbSNP |
22 | g.36265600G>T | CA411367174 | APOL1 | c.764G>T (p.Arg255Met) c.*526G>T (n.*526G>T) c.851G>T (p.Arg284Met) c.812G>T (p.Arg271Met) c.710G>T (p.Arg237Met) c.401G>T (p.Arg134Met) | dbSNP |
22 | g.36265600G>A | CA10208746 | APOL1 | c.764G>A (p.Arg255Lys) c.*526G>A (n.*526G>A) c.851G>A (p.Arg284Lys) c.812G>A (p.Arg271Lys) c.710G>A (p.Arg237Lys) c.401G>A (p.Arg134Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |