Difference between revisions of "Hemochromatosis HGMD SNP TABLE"
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032270 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGGc-AGC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGGc-AGC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Ser |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994469 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994470 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Met |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960827 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCAT-GAT |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCAT-GAT |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-Asp |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990718 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gAGT-TGT |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gAGT-TGT |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ser-Cys |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM033969 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCGC-TGC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tCGC-TGC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Cys |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990719 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGGG-CGG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGGG-CGG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gly-Arg |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990720 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |ATT-ACT |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |ATT-ACT |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ile-Thr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990721 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAAg-CAC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAAg-CAC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-His |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004810 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-CAG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-CAG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Gln |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM015326 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GCC-GTC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GCC-GTC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Ala-Val |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM081301 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CTG-CCG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CTG-CCG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Leu-Pro |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM034097 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGG-CAG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CGG-CAG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Gln |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM024530 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tGTA-TTA |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |tGTA-TTA |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Leu |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGAG-AAG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |aGAG-AAG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TAC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TAC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Tyr |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TCC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |TGC-TCC |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Cys-Ser |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAG-CCG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CAG-CCG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Gln-Pro |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-GCG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |GTG-GCG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Val-Ala |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722 |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Non-synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-ATG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |AGG-ATG |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Met |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10401000&dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517] |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10401000&dopt=Abstract de Villiers (1999) Hum Mol Genet 8, 1517] |
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| − | |+ style="caption-side: bottom; text-align: left" | <font size=1>''' |
+ | |+ style="caption-side: bottom; text-align: left" | <font size=1>'''Table 1''': List of all missense/nonsense SNPs for HFE from the non-professional version of HGMD. |
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</figtable> |
</figtable> |
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Latest revision as of 12:24, 10 June 2012
<figtable id="hgmd_snps">
| ID | Type | Codon change | Amino acid change | Position | Phenotype | Reference |
|---|---|---|---|---|---|---|
| CM032270 | Non-synonymous | AGGc-AGC | Arg-Ser | 6 | Haemochromatosis | Wigg (2003) Gut 52, 433 |
| CM994469 | Non-synonymous | cGTG-ATG | Val-Met | 53 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM994470 | Non-synonymous | cGTG-ATG | Val-Met | 59 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| HM971246 | Synonymous | CATg-CAC | His-His | 63 | Haemochromatosis ? | de Villiers (1998) Hum Genet 102 127 |
| CM960827 | Non-synonymous | tCAT-GAT | His-Asp | 63 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM990718 | Non-synonymous | gAGT-TGT | Ser-Cys | 65 | Haemochromatosis, association with | Mura (1999) Blood 93, 2502 |
| CM033969 | Non-synonymous | tCGC-TGC | Arg-Cys | 66 | Altered iron status | Biasiotto (2003) Clin Chem 49, 1981 |
| CM020721 | Nonsense | cCGA-TGA | Arg-Term | 71 | Haemochromatosis | Beutler (2002) Clin Genet 61, 40 |
| CM990719 | Non-synonymous | aGGG-CGG | Gly-Arg | 93 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990720 | Non-synonymous | ATT-ACT | Ile-Thr | 105 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990721 | Non-synonymous | CAAg-CAC | Gln-His | 127 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM004810 | Non-synonymous | gGAG-CAG | Glu-Gln | 168 | Haemochromatosis | Oberkanins (2000) Genet Test 4, 121 |
| CM004106 | Nonsense | gGAG-TAG | Glu-Term | 168 | Haemochromatosis | Piperno (2000) Gastroenterology 119, 441 |
| CM004107 | Nonsense | TGG-TAG | Trp-Term | 169 | Haemochromatosis | Piperno (2000) Gastroenterology 119, 441 |
| CM015326 | Non-synonymous | GCC-GTC | Ala-Val | 176 | Haemochromatosis ? | Imanishi (2001) Intern Med 40, 479 |
| CM081301 | Non-synonymous | CTG-CCG | Leu-Pro | 183 | Haemochromatosis | Swinkels (2008) Blood Cells Mol Dis 40, 334 |
| CM034097 | Non-synonymous | CGG-CAG | Arg-Gln | 224 | Altered iron status | Biasiotto (2003) Clin Chem 49, 1981 |
| CM024530 | Non-synonymous | tGTA-TTA | Val-Leu | 272 | Haemochromatosis | Jones (2002) Tissue Antigens 60, 481 |
| CM994771 | Non-synonymous | aGAG-AAG | Glu-Lys | 277 | Diabetes ? | Bradbury (1999) Hum Mutat 15, 120 |
| CM960828 | Non-synonymous | TGC-TAC | Cys-Tyr | 282 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM004391 | Non-synonymous | TGC-TCC | Cys-Ser | 282 | Haemochromatosis | Rosmorduc (2000) Gastroenterology 119, 1075 |
| CM032271 | Non-synonymous | CAG-CCG | Gln-Pro | 283 | Haemochromatosis | Le Gac (2003) Blood Cells Mol Dis 30, 231 |
| HM030028 | Non-synonymous | GTG-GCG | Val-Ala | 295 | Haemochromatosis | Bento (2004) Hum Genet 114 405 |
| CM990722 | Non-synonymous | AGG-ATG | Arg-Met | 330 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
</figtable>
