| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.63496977C>T | CA127773 | ACE | c.3683C>T (p.Pro1228Leu) c.1961C>T (p.Pro654Leu) c.1838C>T (p.Pro613Leu) n.693C>T c.*1438C>T (n.*1438C>T) c.*1412C>T (n.*1412C>T) c.370C>T n.557C>T c.3134C>T (p.Pro1045Leu) c.2021C>T (p.Pro674Leu) c.3116C>T (p.Pro1039Leu) c.2831C>T (p.Pro944Leu) c.1298C>T (p.Pro433Leu) n.2061C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.63496977C= | CA2269949846 | ACE | c.3683C= (p.Pro1228=) c.1961C= (p.Pro654=) c.1838C= (p.Pro613=) n.693C= c.*1438C= (n.*1438C=) c.*1412C= (n.*1412C=) c.370C= n.557C= c.3134C= (p.Pro1045=) c.2021C= (p.Pro674=) c.3116C= (p.Pro1039=) c.2831C= (p.Pro944=) c.1298C= (p.Pro433=) n.2061C= | dbSNP |