Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
6-26091582-A-C | HFE | c.381A>C | p.Gln127His | Missense | 3/6 | - |
6-26091703-G-C | HFE | c.502G>C | p.Glu168Gln | Missense | 3/6 | - |
6-26091582-A-T | HFE | c.381A>T | p.Gln127His | Missense | 3/6 | - |
6-26091707-G-A | HFE | c.506G>A | p.Trp169* | Nonsense | 3/6 | - |
6-26091181-T-C | HFE | c.189T>C | p.His63His | Synonymous | 2/6 | - |
6-26093144-A-C | HFE | c.848A>C | p.Gln283Pro | Missense | 4/6 | - |
6-26091708-G-A | HFE | c.507G>A | p.Trp169* | Nonsense | 3/6 | - |
6-26091149-G-A | HFE | c.157G>A | p.Val53Met | Missense | 2/6 | - |
6-26091167-G-A | HFE | c.175G>A | p.Val59Met | Missense | 2/6 | - |
6-26091703-G-T | HFE | c.502G>T | p.Glu168* | Nonsense | 3/6 | - |