Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.36265284G>A | CA10208680 | APOL1 | c.448G>A (p.Glu150Lys) c.*210G>A (n.*210G>A) c.535G>A (p.Glu179Lys) c.496G>A (p.Glu166Lys) c.394G>A (p.Glu132Lys) c.85G>A (p.Glu29Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265284G>C | CA411366505 | APOL1 | c.448G>C (p.Glu150Gln) c.*210G>C (n.*210G>C) c.535G>C (p.Glu179Gln) c.496G>C (p.Glu166Gln) c.394G>C (p.Glu132Gln) c.85G>C (p.Glu29Gln) | dbSNP gnomAD v4 |