Full data view for gene CRB1


The expert classification of the variants can be found here.

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

276 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #2 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #2 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #2 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A 2842G>A - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #2 - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2010 - - Germline - - - - - DNA SEQ - - CORD - PubMed: Henderson 2010 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 - PubMed: Lotery 2001 - - Germline - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 - PubMed: Lotery 2001 - - Germline - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 - PubMed: Lotery 2001 - - Germline - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - pathogenic g.197403836G>A g.197434706G>A 2978G->A - CRB1_000001 - PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - pathogenic g.197403836G>A g.197434706G>A 2978G->A - CRB1_000001 - PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A 2978G->A - CRB1_000001 not in 180 controls PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Hollander 2001 2-generation family, 1-affected M no - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Jacobson 2003 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - F ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Jacobson 2003 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - M ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Jacobson 2003 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - F ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bernal 2003 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Bernal 2003 5 generation family, 3 affected F no Spain Spanish - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bernal 2003 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Bernal 2003 5 generation family, 3 affected F no Spain Spanish - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (confirmed) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bernal 2003 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: Bernal 2003 5 generation family, 3 affected F no Spain Spanish - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 not in 96 controls PubMed: Hanein 2004 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Hanein 2004 - ? yes France French - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 not in 96 controls PubMed: Hanein 2004 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Hanein 2004 - ? ? France French - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A C948Y - CRB1_000001 - PubMed: Galvin 2005 - - Germline - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Galvin 2005 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome; not in 60 controls PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Booij 2005 - ? ? Netherlands Dutch - - - - 4 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome; not in 60 controls PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - ? ? Netherlands Dutch - - - - 4 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome; not in 60 controls PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - ? ? Netherlands Dutch - - - - 4 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Yzer 2006 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Yzer 2006 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Yzer 2006 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Yzer 2006 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Yzer 2006 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Yzer 2006 - ? ? - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (confirmed) - likely pathogenic g.197403836G>A g.197434706G>A p.[C948Y] - CRB1_000001 unknown variant 2nd chromosome PubMed: Yzer 2006 - - Germline - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Yzer 2006 2 generation family, 1 affected ? no - ? - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 25 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Vallespin 2007 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 unknown variant 2nd chromosome PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Henderson 2007 - - Germline - - - - - DNA SEQ - - LCA - PubMed: Henderson 2007 - ? ? United Kingdom (Great Britain) British - - - - 9 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: den Hollander 2007 - - Germline - - - - - DNA SSCA - - LCA - PubMed: den Hollander 2007 - M yes Canada Quebec - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Clark 2010 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Clark 2010 - ? - Ireland Irish - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Coppieters 2010 - - Unknown - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Coppieters 2010 - ? ? Belgium Belgian - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Parent #1 - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 8 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A p.Cys948Tyr - CRB1_000001 - PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - M ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bujakowska 2012 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Bujakowska 2012 2 generation family, 1 affected F no France French - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bujakowska 2012 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Bujakowska 2012 2 generation family, 2 affected M no France French - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bujakowska 2012 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Bujakowska 2012 2 generation family, 2 affected M no France French - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Bujakowska 2012 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Bujakowska 2012 2 generation family, 1 affected F no France French - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA PCR, SSCA - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, MCA - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, MCA - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - RD - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Corton 2013 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - LCA - PubMed: Corton 2013 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Cordovez 2013 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Cordovez 2013 - F ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Cordovez 2013 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Cordovez 2013 - F ? United States American - - - - 3 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A p.C948Y - CRB1_000001 - PubMed: Sánchez-Alcudia 2014 - - Germline - - - - - DNA SSCA, DHPLC, SEQ-NG, PCR, SEQ - - retinal disease - PubMed: Sánchez-Alcudia 2014 - F - Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A p.C948Y - CRB1_000001 - PubMed: Sánchez-Alcudia 2014 - - Germline - - - - - DNA SSCA, DHPLC, SEQ-NG, PCR, SEQ - - retinal disease - PubMed: Sánchez-Alcudia 2014 - F - Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A p.C948Y - CRB1_000001 - PubMed: Sánchez-Alcudia 2014 - - Germline - - - - - DNA SSCA, DHPLC, SEQ-NG, PCR, SEQ - - LCA - PubMed: Sánchez-Alcudia 2014 - F - Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Both (homozygous) - likely pathogenic g.197403836G>A g.197434706G>A p.C948Y - CRB1_000001 - PubMed: Sánchez-Alcudia 2014 - - Germline - - - - - DNA SSCA, DHPLC, SEQ-NG, PCR, SEQ - - LCA - PubMed: Sánchez-Alcudia 2014 - F - Spain Spanish - - - - 5 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 not in 100 controls PubMed: González-del Pozo 2011 - - Germline - - - - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: González-del Pozo 2011 - ? ? Spain Spanish - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Glockle 2013 - - Germline - - - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease - PubMed: Glockle 2013 - ? ? - ? - - - - 2 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Paternal (inferred) - likely pathogenic g.197403836G>A g.197434706G>A - - CRB1_000001 - PubMed: Glockle 2013 - - Germline - - - - - DNA SEQ-NG-S, PCR, SEQ - - retinal disease - PubMed: Glockle 2013 - ? ? - ? - - - - 2 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A 2978G>A - CRB1_000001 not in 100 controls PubMed: den Hollander 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? United Kingdom (Great Britain) British - - - - 1 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - pathogenic g.197403836G>A g.197434706G>A 2978G>A - CRB1_000001 not in 100 controls PubMed: den Hollander 1999 - - Germline - - - - - DNA SSCA, PCR, SEQ - - retinal disease - PubMed: den Hollander 1999 - ? ? Netherlands Dutch - - - - 1 Frans Cremers
+?/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Unknown - likely pathogenic g.197403836G>A g.197434706G>A Cys948Tyr - CRB1_000001 - PubMed: Lotery 2001 - - Germline - 7/190 cases - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 7 Frans Cremers
+/. 9 c.2843G>A r.(?) p.(Cys948Tyr) Maternal (inferred) - pathogenic g.197403836G>A g.197434706G>A 2978G->A - CRB1_000001 - PubMed: Hollander 2001 - - Germline - - - - - DNA PCR, SEQ - - LCA - PubMed: Hollander 2001 - ? ? - ? - - - - 1 Frans Cremers
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