| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 7-100231138-A-T | TFR2 | c.515T>A | p.Met172Lys | Missense | 4/18 | - |
| 6-26091185-A-T | HFE | c.193A>T | p.Ser65Cys | Missense | 2/6 | - |
| 7-100230723-G-T | TFR2 | c.750C>A | p.Tyr250* | Nonsense | 6/18 | - |
| 7-100238707-C-A | TFR2 | c.178G>T | p.Glu60* | Nonsense | 2/18 | - |
| 6-26091167-G-A | HFE | c.175G>A | p.Val59Met | Missense | 2/6 | - |
| 2-190436525-T-G | SLC40A1 | c.430A>C | p.Asn144His | Missense | 5/8 | - |
| 6-26091149-G-A | HFE | c.157G>A | p.Val53Met | Missense | 2/6 | - |
| 6-26091703-G-T | HFE | c.502G>T | p.Glu168* | Nonsense | 3/6 | - |
| 6-26091582-A-C | HFE | c.381A>C | p.Gln127His | Missense | 3/6 | - |
| 6-26093144-A-C | HFE | c.848A>C | p.Gln283Pro | Missense | 4/6 | - |
| 7-100230723-G-C | TFR2 | c.750C>G | p.Tyr250* | Nonsense | 6/18 | - |
| 6-26091582-A-T | HFE | c.381A>T | p.Gln127His | Missense | 3/6 | - |
| 6-26091181-T-C | HFE | c.189T>C | p.His63His | Synonymous | 2/6 | - |
| 6-26091185-AG-GA | HFE | c.193_194delAGinsGA | p.Ser65Asp | Missense | 2/6 | - |
| 6-26091708-G-A | HFE | c.507G>A | p.Trp169* | Nonsense | 3/6 | - |
| 6-26091707-G-A | HFE | c.506G>A | p.Trp169* | Nonsense | 3/6 | - |