| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.57550760A>T | CA003544 | FECH | c.1224T>A (p.Asn408Lys) c.1008T>A (p.Asn336Lys) n.1330T>A c.1242T>A (p.Asn414Lys) c.*951T>A (n.*951T>A) c.1143T>A (p.Asn381Lys) c.1125T>A (p.Asn375Lys) c.1164T>A (p.Asn388Lys) | ClinVar dbSNP gnomAD v4 |
| 18 | g.57550760A= | CA2306045966 | FECH | c.1224T= (p.Asn408=) c.1008T= (p.Asn336=) n.1330T= c.1242T= (p.Asn414=) c.*951T= (n.*951T=) c.1143T= (p.Asn381=) c.1125T= (p.Asn375=) c.1164T= (p.Asn388=) | dbSNP |