Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.36265988T>G | CA181104 | APOL1 | c.1152T>G (p.Ile384Met) c.*914T>G (n.*914T>G) c.1239T>G (p.Ile413Met) c.1200T>G (p.Ile400Met) c.1098T>G (p.Ile366Met) c.789T>G (p.Ile263Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265988T>C | CA514473396 | APOL1 | c.1152T>C (p.Ile384=) c.*914T>C (n.*914T>C) c.1239T>C (p.Ile413=) c.1200T>C (p.Ile400=) c.1098T>C (p.Ile366=) c.789T>C (p.Ile263=) | dbSNP |