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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |AGGc-AGC |
| 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" |6 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |6 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Wigg (2003) Gut 52, 433 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=12584229&dopt=Abstract Wigg (2003) Gut 52, 433] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
| 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" |53 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |53 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |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="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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |cGTG-ATG |
| 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" |59 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |59 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |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="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM971246 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Synonymous |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |CATg-CAC |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |His-His |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ? |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ? |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |de Villiers (1998) Hum Genet 102 127 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0340-6717 de Villiers (1998) Hum Genet 102 127] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |tCAT-GAT |
| 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" |63 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |63 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Feder (1996) Nat Genet 13, 399 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=8696333&dopt=Abstract Feder (1996) Nat Genet 13, 399] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |gAGT-TGT |
| 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" |65 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |65 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Mura (1999) Blood 93, 2502 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10194428&dopt=Abstract Mura (1999) Blood 93, 2502] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |tCGC-TGC |
| 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" |66 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |66 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Biasiotto (2003) Clin Chem 49, 1981 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=14633868&dopt=Abstract Biasiotto (2003) Clin Chem 49, 1981] |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM020721 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |cCGA-TGA |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Arg-Term |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |71 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |71 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Beutler (2002) Clin Genet 61, 40 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=11903354&dopt=Abstract Beutler (2002) Clin Genet 61, 40] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |aGGG-CGG |
| 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" |93 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |93 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Barton (1999) Blood Cells Mol Dis 25, 147 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10575540&dopt=Abstract Barton (1999) Blood Cells Mol Dis 25, 147] |
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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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| Line 88: | Line 88: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |105 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Barton (1999) Blood Cells Mol Dis 25, 147 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10575540&dopt=Abstract Barton (1999) Blood Cells Mol Dis 25, 147] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |CAAg-CAC |
| 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" |127 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |127 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |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="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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-CAG |
| 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" |168 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Oberkanins (2000) Genet Test 4, 121 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10953950&dopt=Abstract Oberkanins (2000) Genet Test 4, 121] |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004106 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Nonsense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |gGAG-TAG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Term |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |168 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Piperno (2000) Gastroenterology 119, 441 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10930379&dopt=Abstract Piperno (2000) Gastroenterology 119, 441] |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004107 |
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| Line 120: | Line 120: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |169 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Piperno (2000) Gastroenterology 119, 441 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10930379&dopt=Abstract Piperno (2000) Gastroenterology 119, 441] |
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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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| Line 128: | Line 128: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |176 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ? |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis ? |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Imanishi (2001) Intern Med 40, 479 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=11446670&dopt=Abstract Imanishi (2001) Intern Med 40, 479] |
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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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| Line 136: | Line 136: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |183 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Swinkels (2008) Blood Cells Mol Dis 40, 334 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=18042412&dopt=Abstract Swinkels (2008) Blood Cells Mol Dis 40, 334] |
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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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| Line 144: | Line 144: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |224 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Altered iron status |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Biasiotto (2003) Clin Chem 49, 1981 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=14633868&dopt=Abstract Biasiotto (2003) Clin Chem 49, 1981] |
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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" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |tGTA-TTA |
| 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" |272 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |272 |
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| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
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| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Jones (2002) Tissue Antigens 60, 481 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=12542741&dopt=Abstract Jones (2002) Tissue Antigens 60, 481] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM994771 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Missense |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" | |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |aGAG-AAG |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Glu-Lys |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |277 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Diabetes ? |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Diabetes ? |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Bradbury (1999) Hum Mutat 15, 120 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10612845&dopt=Abstract Bradbury (1999) Hum Mutat 15, 120] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM960828 |
||
| Line 168: | Line 168: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis, association with |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Feder (1996) Nat Genet 13, 399 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=8696333&dopt=Abstract Feder (1996) Nat Genet 13, 399] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM004391 |
||
| Line 176: | Line 176: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |282 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Rosmorduc (2000) Gastroenterology 119, 1075 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=11040194&dopt=Abstract Rosmorduc (2000) Gastroenterology 119, 1075] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM032271 |
||
| Line 184: | Line 184: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |283 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Le Gac (2003) Blood Cells Mol Dis 30, 231 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=12737937&dopt=Abstract Le Gac (2003) Blood Cells Mol Dis 30, 231] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |HM030028 |
||
| Line 192: | Line 192: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |295 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |Bento (2004) Hum Genet 114 405 |
+ | | style="border-style: solid; border-width: 1px 1px 1px 1px" |[http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0340-6717 Bento (2004) Hum Genet 114 405] |
|- |
|- |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |CM990722 |
||
| Line 200: | Line 200: | ||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |330 |
||
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
| style="border-style: solid; border-width: 1px 1px 1px 1px" |Haemochromatosis |
||
| − | | style="border-style: solid; border-width: 1px 1px 1px 1px" |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] |
|- |
|- |
||
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''TODO''': description. |
|+ style="caption-side: bottom; text-align: left" | <font size=1>'''TODO''': description. |
||
Revision as of 16:25, 9 June 2012
<figtable id="TODO_ID">
| ID | Type | Codon change | Amino acid change | Position | Phenotype | Reference |
|---|---|---|---|---|---|---|
| CM032270 | Missense | AGGc-AGC | Arg-Ser | 6 | Haemochromatosis | Wigg (2003) Gut 52, 433 |
| CM994469 | Missense | cGTG-ATG | Val-Met | 53 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM994470 | Missense | 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 | Missense | tCAT-GAT | His-Asp | 63 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM990718 | Missense | gAGT-TGT | Ser-Cys | 65 | Haemochromatosis, association with | Mura (1999) Blood 93, 2502 |
| CM033969 | Missense | 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 | Missense | aGGG-CGG | Gly-Arg | 93 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990720 | Missense | ATT-ACT | Ile-Thr | 105 | Haemochromatosis | Barton (1999) Blood Cells Mol Dis 25, 147 |
| CM990721 | Missense | CAAg-CAC | Gln-His | 127 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
| CM004810 | Missense | 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 | Missense | GCC-GTC | Ala-Val | 176 | Haemochromatosis ? | Imanishi (2001) Intern Med 40, 479 |
| CM081301 | Missense | CTG-CCG | Leu-Pro | 183 | Haemochromatosis | Swinkels (2008) Blood Cells Mol Dis 40, 334 |
| CM034097 | Missense | CGG-CAG | Arg-Gln | 224 | Altered iron status | Biasiotto (2003) Clin Chem 49, 1981 |
| CM024530 | Missense | tGTA-TTA | Val-Leu | 272 | Haemochromatosis | Jones (2002) Tissue Antigens 60, 481 |
| CM994771 | Missense | aGAG-AAG | Glu-Lys | 277 | Diabetes ? | Bradbury (1999) Hum Mutat 15, 120 |
| CM960828 | Missense | TGC-TAC | Cys-Tyr | 282 | Haemochromatosis, association with | Feder (1996) Nat Genet 13, 399 |
| CM004391 | Missense | TGC-TCC | Cys-Ser | 282 | Haemochromatosis | Rosmorduc (2000) Gastroenterology 119, 1075 |
| CM032271 | Missense | CAG-CCG | Gln-Pro | 283 | Haemochromatosis | Le Gac (2003) Blood Cells Mol Dis 30, 231 |
| HM030028 | Missense | GTG-GCG | Val-Ala | 295 | Haemochromatosis | Bento (2004) Hum Genet 114 405 |
| CM990722 | Missense | AGG-ATG | Arg-Met | 330 | Haemochromatosis | de Villiers (1999) Hum Mol Genet 8, 1517 |
</figtable>
