| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57550753A>C | CA006500 | FECH | c.1231T>G (p.Cys411Gly) c.1015T>G (p.Cys339Gly) n.1337T>G c.1249T>G (p.Cys417Gly) c.*958T>G (n.*958T>G) c.1150T>G (p.Cys384Gly) c.1132T>G (p.Cys378Gly) c.1171T>G (p.Cys391Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57550753A= | CA2306045963 | FECH | c.1231T= (p.Cys411=) c.1015T= (p.Cys339=) n.1337T= c.1249T= (p.Cys417=) c.*958T= (n.*958T=) c.1150T= (p.Cys384=) c.1132T= (p.Cys378=) c.1171T= (p.Cys391=) | dbSNP |