E. Beutler, The designation of mutations, Am J Hum Genet, vol.53, pp.783-785, 1993.

A. Beaudet and L. Tsui, A suggested nomenclature for designating mutations, Human Mutation, vol.1, issue.4, pp.245-248, 1993.
DOI : 10.1002/humu.1380020402

J. Den-dunnen and S. Antonarakis, Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion, Human Mutation, vol.10, issue.1, pp.7-12, 2000.
DOI : 10.1002/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N

J. Den-dunnen and M. Paalman, Standardizing mutation nomenclature: why bother? Hum Mutat, pp.181-182, 2003.

S. Ogino, M. Gulley, J. Den-dunnen, and R. Wilson, Standard Mutation Nomenclature in Molecular Diagnostics, The Journal of Molecular Diagnostics, vol.9, issue.1, pp.1-6, 2007.
DOI : 10.2353/jmoldx.2007.060081

M. Gulley, R. Braziel, K. Halling, E. Hsi, J. Kant et al., Clinical laboratory reports in molecular pathology, Arch Pathol Lab Med, vol.131, pp.852-863, 2007.

K. Pruitt, T. Tatusova, W. Klimke, and D. Maglott, NCBI Reference Sequences: current status, policy and new initiatives, Nucleic Acids Research, vol.37, issue.Database, pp.32-36, 2009.
DOI : 10.1093/nar/gkn721

P. Flicek, B. Aken, B. Ballester, K. Beal, E. Bragin et al., Ensembl's 10th year, Nucleic Acids Research, vol.38, issue.Database, pp.557-562, 2010.
DOI : 10.1093/nar/gkp972

URL : http://doi.org/10.1093/nar/gkp972

S. Sherry, M. Ward, M. Kholodov, J. Baker, L. Phan et al., dbSNP: the NCBI database of genetic variation, Nucleic Acids Research, vol.29, issue.1, pp.308-311, 2001.
DOI : 10.1093/nar/29.1.308

I. Fokkema, J. Den-dunnen, and P. Taschner, LOVD: Easy creation of a locus-specific sequence variation database using an ???LSDB-in-a-box??? approach, Human Mutation, vol.21, issue.2, pp.63-68, 2005.
DOI : 10.1002/humu.20201

C. Béroud, D. Hamroun, G. Collod-béroud, C. Boileau, T. Soussi et al., UMD (Universal Mutation Database): 2005 update, ): 2005 update, pp.184-191, 2005.
DOI : 10.1002/humu.20210

P. Riikonen and M. Vihinen, MUTbase: maintenance and analysis of distributed mutation databases, Bioinformatics, vol.15, issue.10, pp.852-859, 1999.
DOI : 10.1093/bioinformatics/15.10.852

. Mutbase, Maintenance and Analysis of Mutation Databases on the World Wide Web

M. Wildeman, E. Van-ophuizen, J. Den-dunnen, and P. Taschner, Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker, Human Mutation, vol.79, issue.1, pp.6-13, 2008.
DOI : 10.1002/humu.20654

V. Jonas, C. Lin, E. Kawashima, D. Semon, L. Swanson et al., Alternative RNA processing events in human calcitonin/calcitonin gene-related peptide gene expression., Proceedings of the National Academy of Sciences, vol.82, issue.7, pp.1994-1998, 1985.
DOI : 10.1073/pnas.82.7.1994

N. Sharpless, INK4a/ARF: A multifunctional tumor suppressor locus, Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, vol.576, issue.1-2, pp.22-38, 2005.
DOI : 10.1016/j.mrfmmm.2004.08.021

A. Schechter, Hemoglobin research and the origins of molecular medicine, Blood, vol.112, issue.10, pp.3927-3938, 2008.
DOI : 10.1182/blood-2008-04-078188

R. Hardison, D. Chui, B. Giardine, C. Riemer, G. Patrinos et al., HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server, Human Mutation, vol.25, issue.3, pp.225-233, 2002.
DOI : 10.1002/humu.10044

. Hbvar, A Database of Human Hemoglobin Variants and Thalassemias

E. Beutler, . Pgk, and . Ciency, PGK deficiency, British Journal of Haematology, vol.247, issue.1, pp.3-11, 2007.
DOI : 10.1006/bcmd.1995.0020

T. Pihlajaniemi, L. Dickson, F. Pope, V. Korhonen, A. Nicholls et al., Osteogenesis imperfecta: cloning of a pro-?2(I) collagen gene with a frameshift mutation, J Biol Chem, vol.259, pp.12941-12944, 1984.

F. Ramirez and W. De-wet, Molecular Biology of the Human Fibrillar Collagen Genes, Annals of the New York Academy of Sciences, vol.254, issue.1 Third Interna, pp.109-116, 1988.
DOI : 10.1073/pnas.84.16.5590

L. Pan, J. Xu, R. Yu, M. Xu, Y. Pan et al., Identification and characterization of six new alternatively spliced variants of the human ?? opioid receptor gene, Oprm, Neuroscience, vol.133, issue.1, pp.209-220, 2005.
DOI : 10.1016/j.neuroscience.2004.12.033

J. Zielenski and L. Tsui, Cystic Fibrosis: Genotypic and Phenotypic Variations, Annual Review of Genetics, vol.29, issue.1, pp.777-807, 1995.
DOI : 10.1146/annurev.ge.29.120195.004021

R. Dalgleish, 1186/gm145 Cite this article as Locus Reference Genomic sequences: an improved basis for describing human DNA variants, Genome Medicine, vol.2, p.1024, 2010.