| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232535148C>T | CA128070 | CHRND | c.1390C>T (p.Arg464Ter) c.*572C>T (n.*572C>T) c.*1031C>T (n.*1031C>T) c.1345C>T (p.Arg449Ter) c.808C>T (p.Arg270Ter) c.1087C>T (p.Arg363Ter) c.-4294966161C>T c.-4294965882C>T c.1009C>T (p.Arg337Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.232535148C>A | CA431809038 | CHRND | c.1390C>A (p.Arg464=) c.*572C>A (n.*572C>A) c.*1031C>A (n.*1031C>A) c.1345C>A (p.Arg449=) c.808C>A (p.Arg270=) c.1087C>A (p.Arg363=) c.-4294966161C>A c.-4294965882C>A c.1009C>A (p.Arg337=) | dbSNP gnomAD v4 |
| 2 | g.232535148C>G | CA351005926 | CHRND | c.1390C>G (p.Arg464Gly) c.*572C>G (n.*572C>G) c.*1031C>G (n.*1031C>G) c.1345C>G (p.Arg449Gly) c.808C>G (p.Arg270Gly) c.1087C>G (p.Arg363Gly) c.-4294966161C>G c.-4294965882C>G c.1009C>G (p.Arg337Gly) | dbSNP gnomAD v4 |
| 2 | g.232535148C= | CA1335314471 | CHRND | c.1390C= (p.Arg464=) c.*572C= (n.*572C=) c.*1031C= (n.*1031C=) c.1345C= (p.Arg449=) c.808C= (p.Arg270=) c.1087C= (p.Arg363=) c.-4294966161C= c.-4294965882C= c.1009C= (p.Arg337=) | dbSNP |