Full data view for gene AIPL1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014336.3 transcript reference sequence.

226 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     
+?/. 3 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - M ? - Europe, north - - - - 1 Raheel Qamar
+?/. 3 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - M ? - Europe, north - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 compound heterozygous missense variant PubMed: Tan 2012 - rs62637014 Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - white - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 heterozygous deleterious variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 heterozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+?/. 3 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - M ? - Europe, north - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - F ? - Europe, north - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 compound heterozygous deleterious variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T W278X - AIPL1_000010 homozygous frameshift variant PubMed: Galvin 2005 - rs62637014 Germline - - - - - DNA PCR, SSCA, DHPLC - - LCA - - - ? - - - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T W278X - AIPL1_000010 homozygous frameshift variant PubMed: Galvin 2005 - rs62637014 Germline - - - - - DNA PCR, SSCA, DHPLC - - LCA - - - ? - - - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - F ? - Europe, north - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous nonsense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - F ? - Europe, north - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - M ? - Europe, north - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous missense variant PubMed: Jacobson 2011 - rs62637014 Germline - - - - - DNA SEQ - - LCA - - - F ? - Europe, north - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 2 generation family, 5 people, 3 affected F no - - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 2 generation family, 5 people, 3 affected F no - - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 2 generation family, 5 people, 3 affected M no - - - - - - 2 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 2 generation family, 5 people, 3 affected M no - - - - - - 2 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M no Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected F yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA PCR, SEQ - - ? - - 25 generation family, 48 people, 10 affected M yes Pakistan - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous frameshift PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ - - ? - - 2 generation family, 7 people, 2 affected F no - - - - - - 1 Raheel Qamar
+?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - likely pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 compound heterozygous frameshift PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ - - ? - - 2 generation family, 7 people, 2 affected M no - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Mckibbin 2010 - rs62637014 Germline - - - - - DNA PCR, PAGE, SEQ, arraySNP - - LCA - - 3 families, 10 affected ? ? Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Pennesi 2011 - rs62637014 Germline - - - - - DNA PCR, SEQ - - LCA - - - F no - Caucassian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Pennesi 2011 - rs62637014 Germline - - - - - DNA PCR, SEQ - - LCA - - - F no - Caucassian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous SNP PubMed: Tan 2012 - rs62637014 Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - Africa - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous SNP PubMed: Tan 2012 - rs62637014 Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - Africa - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous SNP PubMed: Tan 2012 - rs62637014 Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - white - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous SNP PubMed: Tan 2012 - rs62637014 Germline - - - - - DNA arraySNP, SEQ, PCR - - LCA - - - ? no - white - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - VUS g.6329101C>T g.6425781C>T 834G> A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 2 generation family, 1 affected F ? - - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - VUS g.6329101C>T g.6425781C>T 834G> A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 2 generation family, 1 affected F ? - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? no - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? no - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? - - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? - - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? - - - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T 834G>A - AIPL1_000010 homozygous missense variant PubMed: Yzer 2006 - rs62637014 Germline - - - - - DNA SEQ, PCR - - LCA - - - ? - - - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 2 generation family, 1 affected M ? Spain - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 2 generation family, 1 affected M ? Spain - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 1 affected F ? France - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 homozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 1 affected F ? France - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 2 affected M ? France - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 2 affected M ? France - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 2 affected M ? France - - - - - 1 Raheel Qamar
?/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - VUS g.6329101C>T g.6425781C>T 834G>A (TGG>TGA) - AIPL1_000010 compound heterozygous PubMed: Sohocki 2000 - rs62637014 Germline - - - - - DNA SSCA, SEQ, PCR - - LCA - - 3 generation family, 2 affected M ? France - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Saudi Arabia - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Saudi Arabia - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Pakistan - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - United States - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Portugal - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Portugal - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Belgium - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Belgium - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Belgium - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 homozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Belgium - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 heterozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - - - - - - - - - - - - - - -
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 heterozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - - - - - - - - - - - - - - -
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 heterozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - Ireland - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T Trp278X - AIPL1_000010 heterozygous deleterious variant PubMed: Dharmaraj 2004 - rs62637014 Germline - - - - - DNA PCR, SSCA, SEQ - - LCA - - - - - France - - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #1 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
+/. 6 c.834G>A r.(?) p.(Trp278*) Parent #2 - pathogenic g.6329101C>T g.6425781C>T - - AIPL1_000010 homozygous missense variant PubMed: Testa 2011 - rs62637014 Germline - - NotI-HindIII - - DNA PCRdig, SEQ, arraySNP - - LCA4 - - - - no Italy Italian - - - - 1 Raheel Qamar
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