| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57551317T>A | CA10575465 | FECH | c.1135A>T (p.Lys379Ter) c.919A>T (p.Lys307Ter) n.1241A>T c.1153A>T (p.Lys385Ter) c.*862A>T (n.*862A>T) c.402A>T c.1054A>T (p.Lys352Ter) c.1036A>T (p.Lys346Ter) c.1078-471A>T (n.1078-471A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.57551317T= | CA2306046188 | FECH | c.1135A= (p.Lys379=) c.919A= (p.Lys307=) n.1241A= c.1153A= (p.Lys385=) c.*862A= (n.*862A=) c.402A= c.1054A= (p.Lys352=) c.1036A= (p.Lys346=) c.1078-471A= (n.1078-471A=) | dbSNP |