| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 6-7845512-A-AT | BMP6 | c.804_805insT | p.Asn269*fs*1 | Nonsense | 2/7 | - |
| 2-190439943-A-T | SLC40A1 | c.215T>A | p.Val72Asp | Missense | 3/8 | - |
| 6-26091582-A-C | HFE | c.381A>C | p.Gln127His | Missense | 3/6 | - |
| 2-190428722-ACCC-A | SLC40A1 | c.988_990delGGG | p.Gly330delGly | InFrameDeletion | 7/8 | - |
| 2-190436477-ACAA-A | SLC40A1 | c.485_487delTTG | p.Val162delVal | InFrameDeletion | 5/8 | - |
| 2-190426853-T-G | SLC40A1 | c.1467A>C | p.Arg489Ser | Missense | 8/8 | - |
| 2-190426853-T-A | SLC40A1 | c.1467A>T | p.Arg489Ser | Missense | 8/8 | - |
| 2-190439919-C-A | SLC40A1 | c.239G>T | p.Gly80Val | Missense | 3/8 | - |
| 2-190428744-C-A | SLC40A1 | c.968G>T | p.Gly323Val | Missense | 7/8 | - |
| 6-7727441-T-C | BMP6 | c.253T>C | p.Ser85Pro | Missense | 1/7 | - |
| 2-190436485-T-C | SLC40A1 | c.470A>G | p.Asp157Gly | Missense | 5/8 | - |
| 2-190426851-C-T | SLC40A1 | c.1469G>A | p.Gly490Asp | Missense | 8/8 | - |
| 2-190428700-T-G | SLC40A1 | c.1012A>C | p.Ser338Arg | Missense | 7/8 | - |
| 2-190430294-C-A | SLC40A1 | c.546G>T | p.Gln182His | Missense | 6/8 | - |
| 2-190430294-C-G | SLC40A1 | c.546G>C | p.Gln182His | Missense | 6/8 | - |
| 6-26091582-A-T | HFE | c.381A>T | p.Gln127His | Missense | 3/6 | - |
| 7-100229723-GCTG-G | TFR2 | c.949_951delCAG | p.Gln317delGln | InFrameDeletion | 7/18 | - |
| 2-190430301-A-G | SLC40A1 | c.539T>C | p.Ile180Thr | Missense | 6/8 | - |
| 6-26093144-A-C | HFE | c.848A>C | p.Gln283Pro | Missense | 4/6 | - |
| 2-190436486-C-T | SLC40A1 | c.469G>A | p.Asp157Asn | Missense | 5/8 | - |
| 2-190430308-G-C | SLC40A1 | c.532C>G | p.Arg178Gly | Missense | 6/8 | - |
| 2-190444555-T-C | SLC40A1 | c.95A>G | p.His32Arg | Missense | 2/8 | - |
| 6-26091306-T-C | HFE | c.314T>C | p.Ile105Thr | Missense | 2/6 | - |
| 6-26091586-G-A | HFE | c.385G>A | p.Asp129Asn | Missense | 3/6 | - |
| 19-35775922-TG-AC | HAMP | c.232_233delTGinsAC | p.Cys78Thr | Missense | 3/3 | - |
| 7-100238705-GCTC-G | TFR2 | c.178_180delGAG | p.Glu60delGlu | InFrameDeletion | 2/18 | - |
| 8-125579373-A-T | MTSS1 | c.665T>A | p.Ile222Asn | Missense | 8/14 | - |
| 2-190428698-A-T | SLC40A1 | c.1014T>A | p.Ser338Arg | Missense | 7/8 | - |
| 2-190428698-A-C | SLC40A1 | c.1014T>G | p.Ser338Arg | Missense | 7/8 | - |
| 6-26091129-T-G | HFE | c.137T>G | p.Leu46Trp | Missense | 2/6 | - |
| 7-100226936-C-T | TFR2 | c.1330G>A | p.Ala444Thr | Missense | 10/18 | - |
| 7-100224453-T-G | TFR2 | c.2069A>C | p.Gln690Pro | Missense | 17/18 | - |
| 6-26093443-G-T | HFE | c.989G>T | p.Arg330Met | Missense | 5/6 | - |
| 6-26093139-G-A | HFE | c.843G>A | p.Thr281Thr | Synonymous | 4/6 | - |
| 6-26093125-G-A | HFE | c.829G>A | p.Glu277Lys | Missense | 4/6 | - |
| 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 | - |
| 2-190428912-C-T | SLC40A1 | c.800G>A | p.Gly267Asp | Missense | 7/8 | - |
| 6-26091749-T-C | HFE | c.548T>C | p.Leu183Pro | Missense | 3/6 | - |
| 19-35775749-A-AA | HAMP | c.148dupA | - | SpliceDonorInsertion | 2/3 | - |
| 2-190439895-C-G | SLC40A1 | c.263G>C | p.Arg88Thr | Missense | 3/8 | - |
| 2-190428735-C-G | SLC40A1 | c.977G>C | p.Cys326Ser | Missense | 7/8 | - |
| 2-190428735-C-T | SLC40A1 | c.977G>A | p.Cys326Tyr | Missense | 7/8 | - |
| 7-100238467-CTCG-C | TFR2 | c.313_315delCGA | p.Arg105delArg | InFrameDeletion | 3/18 | - |
| 19-35775856-GCGA-G | HAMP | c.166_168delCGA | p.Arg59delArg | InFrameDeletion | 3/3 | - |
| 19-35775898-T-C | HAMP | c.208T>C | p.Cys70Arg | Missense | 3/3 | - |
| 2-190436525-T-G | SLC40A1 | c.430A>C | p.Asn144His | Missense | 5/8 | - |
| 7-100226902-C-T | TFR2 | c.1364G>A | p.Arg455Gln | Missense | 10/18 | - |
| 6-26093146-G-A | HFE | c.850G>A | p.Val284Met | Missense | 4/6 | - |
| 6-26091703-G-C | HFE | c.502G>C | p.Glu168Gln | Missense | 3/6 | - |
| 19-35775902-G-A | HAMP | c.212G>A | p.Gly71Asp | Missense | 3/3 | - |
| 2-190430298-T-A | SLC40A1 | c.542A>T | p.Asp181Val | Missense | 6/8 | - |
| 2-190430287-T-C | SLC40A1 | c.553A>G | p.Asn185Asp | Missense | 6/8 | - |
| 2-190428736-A-T | SLC40A1 | c.976T>A | p.Cys326Ser | Missense | 7/8 | - |
| 7-100230725-TAGT-T | TFR2 | c.748_750delTAC | p.Tyr250delTyr | InFrameDeletion | 6/18 | - |
| 7-100225851-A-C | TFR2 | c.1469T>G | p.Leu490Arg | Missense | 11/18 | - |
| 7-100228595-TCGT-T | TFR2 | c.1187_1189delGAC | p.Arg396delArg | InFrameDeletion | 9/18 | - |
| 6-26091269-G-C | HFE | c.277G>C | p.Gly93Arg | Missense | 2/6 | - |
| 19-35775865-C-G | HAMP | c.175C>G | p.Arg59Gly | Missense | 3/3 | - |
| 2-190439928-G-T | SLC40A1 | c.230C>A | p.Ala77Asp | Missense | 3/8 | - |
| 2-190430319-T-A | SLC40A1 | c.521A>T | p.Asn174Ile | Missense | 6/8 | - |
| 2-190430096-C-A | SLC40A1 | c.744G>T | p.Gln248His | Missense | 6/8 | - |
| 7-100218512-C-G | TFR2 | c.2374G>C | p.Gly792Arg | Missense | 18/18 | - |
| 2-190426851-C-A | SLC40A1 | c.1469G>T | p.Gly490Val | Missense | 8/8 | - |
| 7-100218512-C-T | TFR2 | c.2374G>A | p.Gly792Arg | Missense | 18/18 | - |
| 6-26091269-G-A | HFE | c.277G>A | p.Gly93Arg | Missense | 2/6 | - |
| 6-26091120-G-C | HFE | c.128G>C | p.Gly43Ala | Missense | 2/6 | - |
| 7-100238788-G-T | TFR2 | c.97C>A | p.His33Asn | Missense | 2/18 | - |
| 6-26091703-GGAG-G | HFE | c.502_504delGAG | p.Glu168delGlu | InFrameDeletion | 3/6 | - |
| 2-190439968-A-T | SLC40A1 | c.190T>A | p.Tyr64Asn | Missense | 3/8 | - |
| 6-26091149-G-A | HFE | c.157G>A | p.Val53Met | Missense | 2/6 | - |