| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57550734A>G | CA251508 | FECH | c.1250T>C (p.Phe417Ser) c.1034T>C (p.Phe345Ser) n.1356T>C c.1268T>C (p.Phe423Ser) c.*977T>C (n.*977T>C) c.1169T>C (p.Phe390Ser) c.1151T>C (p.Phe384Ser) c.1190T>C (p.Phe397Ser) | ClinVar dbSNP |
| 18 | g.57550734A= | CA2306045956 | FECH | c.1250T= (p.Phe417=) c.1034T= (p.Phe345=) n.1356T= c.1268T= (p.Phe423=) c.*977T= (n.*977T=) c.1169T= (p.Phe390=) c.1151T= (p.Phe384=) c.1190T= (p.Phe397=) | dbSNP |