Hemochromatosis HGMD SNP TABLE

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TODO: description.

ID	Type	Codon change	Amino acid change	Position	Phenotype	Reference
CM032270	Missense	AGG-AGC	Arg-Ser	6	Haemochromatosis	Wigg (2003) Gut 52, 433
CM994469	Missense	GTG-ATG	Val-Met	53	Haemochromatosis	de Villiers (1999) Hum Mol Genet 8, 1517
CM994470	Missense	GTG-ATG	Val-Met	59	Haemochromatosis	de Villiers (1999) Hum Mol Genet 8, 1517
HM971246	Synonymous	CAT-CAC	His-His	63	Haemochromatosis ?	de Villiers (1998) Hum Genet 102 127
CM960827	Missense	CAT-GAT	His-Asp	63	Haemochromatosis, association with	Feder (1996) Nat Genet 13, 399
CM990718	Missense	AGT-TGT	Ser-Cys	65	Haemochromatosis, association with	Mura (1999) Blood 93, 2502
CM033969	Missense	CGC-TGC	Arg-Cys	66	Altered iron status	Biasiotto (2003) Clin Chem 49, 1981
CM020721	Nonsense	CGA-TGA	Arg-Term	71	Haemochromatosis	Beutler (2002) Clin Genet 61, 40
CM990719	Missense	GGG-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	CAA-CAC	Gln-His	127	Haemochromatosis	de Villiers (1999) Hum Mol Genet 8, 1517
CM004810	Missense	GAG-CAG	Glu-Gln	168	Haemochromatosis	Oberkanins (2000) Genet Test 4, 121
CM004106	Nonsense	GAG-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	GTA-TTA	Val-Leu	272	Haemochromatosis	Jones (2002) Tissue Antigens 60, 481
CM994771	Missense	GAG-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

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