| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.165752166G>A | CA145327 | TMCO1 | c.259C>T (p.Arg87Ter) c.*90C>T (n.*90C>T) c.*49C>T (n.*49C>T) c.412C>T (p.Arg138Ter) c.7C>T (p.Arg3Ter) c.336C>T c.223C>T (p.Arg75Ter) c.310C>T (p.Arg104Ter) n.353C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.165752166G= | CA1143468222 | TMCO1 | c.259C= (p.Arg87=) c.*90C= (n.*90C=) c.*49C= (n.*49C=) c.412C= (p.Arg138=) c.7C= (p.Arg3=) c.336C= c.223C= (p.Arg75=) c.310C= (p.Arg104=) n.353C= | dbSNP |