All variants in the USH2A gene


This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Information The variants shown are described using the NM_206933.2 transcript reference sequence.

316 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. - c.504A>G r.(?) p.(Thr168=) - - benign g.216592003T>C g.216418661T>C USH2A(NM_206933.2):c.504A>G (p.T168=) - USH2A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.504A>G r.(?) p.(Thr168=) - - benign g.216592003T>C g.216418661T>C USH2A(NM_206933.2):c.504A>G (p.T168=) - USH2A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous; non causative PubMed: Rong 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous; non causative PubMed: Rong 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Besnard, Garcia-Garcia 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Jaijo 2010 - rs4253963 Germline - - none 0 - Jose Maria Millan
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2007 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous - - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Jaijo 2010 - rs4253963 Germline - - none 0 - Jose Maria Millan
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Jaijo 2010 - rs4253963 Germline - - none 0 - Jose Maria Millan
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous; Neutral PubMed: Jaijo 2010 - rs4253963 Germline - - none 0 - Jose Maria Millan
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous; Neutral PubMed: Jaijo 2010 - rs4253963 Germline - - none 0 - Jose Maria Millan
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Vaché 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Vaché 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous - - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous - - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous - - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Homozygous PubMed: Le Guédard-Méreuze 2010 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
-/- 3 c.504A>G r.(?) p.(=) - - benign g.216592003T>C g.216418661T>C - - USH2A_000043 Heterozygous PubMed: Baux 2014 - rs4253963 Germline - - none 0 - Anne-Françoise Roux
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