| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57554903T>C | CA8973074 | FECH | c.755A>G (p.Gln252Arg) n.1029A>G c.854A>G (p.Gln285Arg) c.638A>G (p.Gln213Arg) n.960A>G n.451A>G c.872A>G (p.Gln291Arg) c.*581A>G (n.*581A>G) c.121A>G c.773A>G (p.Gln258Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.57554903T= | CA2306047631 | FECH | c.755A= (p.Gln252=) n.1029A= c.854A= (p.Gln285=) c.638A= (p.Gln213=) n.960A= n.451A= c.872A= (p.Gln291=) c.*581A= (n.*581A=) c.121A= c.773A= (p.Gln258=) | dbSNP |