| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22255400C>T | CA210078 | ANO5 | n.530C>T c.760C>T (p.Arg254Ter) c.1168C>T (p.Arg390Ter) c.*1142C>T (n.*1142C>T) n.2204C>T n.1410C>T c.1165C>T (p.Arg389Ter) c.1210C>T (p.Arg404Ter) n.1545C>T c.1207C>T (p.Arg403Ter) c.1132C>T (p.Arg378Ter) c.1129C>T (p.Arg377Ter) c.1117C>T (p.Arg373Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.22255400C>G | CA218757748 | ANO5 | n.530C>G c.760C>G (p.Arg254Gly) c.1168C>G (p.Arg390Gly) c.*1142C>G (n.*1142C>G) n.2204C>G n.1410C>G c.1165C>G (p.Arg389Gly) c.1210C>G (p.Arg404Gly) n.1545C>G c.1207C>G (p.Arg403Gly) c.1132C>G (p.Arg378Gly) c.1129C>G (p.Arg377Gly) c.1117C>G (p.Arg373Gly) | dbSNP |
| 11 | g.22255400C= | CA1957416916 | ANO5 | n.530C= c.760C= (p.Arg254=) c.1168C= (p.Arg390=) c.*1142C= (n.*1142C=) n.2204C= n.1410C= c.1165C= (p.Arg389=) c.1210C= (p.Arg404=) n.1545C= c.1207C= (p.Arg403=) c.1132C= (p.Arg378=) c.1129C= (p.Arg377=) c.1117C= (p.Arg373=) | dbSNP |