Full data view for gene ABCA4


The expert classification of the variants can be found here.

To other Inherited Retinal Disease gene variant database:
Information The variants shown are described using the NM_000350.2 transcript reference sequence.

179 entries on 2 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     
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - PubMed: Eisenberger 2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Zhao 2015 - - Germline yes - - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Zhao 2015 - ? ? Northern Ireland ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup 3212insGT - ABCA4_000998 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup 3212insGT - ABCA4_000998 - PubMed: Briggs 2001 - - Germline - - - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup 3211insGT - ABCA4_000998 - PubMed: Nasonkin 1998 - - Germline - - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Nasonkin 1998 2-generation family, 2 affected M ? - white - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup 3211insGT - ABCA4_000998 - PubMed: Nasonkin 1998 - - Germline - - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Nasonkin 1998 2-generation family, 2 affected F ? - white - - - - 1 Stéphanie Cornelis
-?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely benign g.94508435_94508436dup g.94042879_94042880dup 3209insGT - ABCA4_000998 - PubMed: Rozet 1998 - - Germline - - - - - DNA SSCA, PCR, SEQ - - STGD1 - PubMed: Kaplan 1993 - ? ? - - - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211-3212insGT - ABCA4_000998 - PubMed: Paloma 2001 - - Germline - - - - - DNA PCR, SSCA, SEQ - - CORD - PubMed: Paloma 2001 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Maia-Lopes 2009 - - Germline - - - - - DNA PCR, PE, DHPLC, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2009 - ? ? Portugal ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PCR, DHPLC, MCA, SEQ - - STGD1 - PubMed: Aguirre-Lamban 2009, PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup Leu1070 ins2cTG - ABCA4_000998 - PubMed: Schindler 2010 - - Germline - - - - - DNA SNPlex, TaqMan, SSCA, SEQ - - STGD1 - PubMed: Schindler 2010 - ? ? United States Iowa - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup 3211insGT - ABCA4_000998 - PubMed: Maia-Lopes 2008 - - Germline - - - - - DNA PE, SEQ - APEX STGD1 - PubMed: Maia-Lopes 2008 Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well. M ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup p.Ser1071Cysfs*1084 - ABCA4_000998 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup p.Ser1071Cysfs*1084 - ABCA4_000998 - PubMed: Fujinami 2013 - - Germline - - - - - DNA PCR, SEQ - - STGD1 - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX CORD - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline ? - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT - ABCA4_000998 - PubMed: Riveiro-Alvarez 2013 - - Germline - - - - - DNA PE, DHPLC, MCA, SEQ, MLPA, SEQ-NG - APEX STGD1 - PubMed: Riveiro-Alvarez 2013 - ? ? Spain ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT, p.Ser1071Cys fs*1084 - ABCA4_000998 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup c.3211_3212insGT,p.Ser1071Cys fs*1084 - ABCA4_000998 - PubMed: Fujinami 2013 - - Germline - - - - - DNA SSCA, PE - APEX ? - PubMed: Fujinami 2013 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - VUS g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup - ABCA4_000998 - PubMed: Bauwens 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - COD - PubMed: Bauwens 2014 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(3210_3211dup) p.(Ser1071CysfsTer14) Parent #1 ACMG pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 unknown variant 2nd allele PubMed: Khan 2019 - - Germline yes - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - likely pathogenic (!) g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 pseudo-dominant PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ - - retinal disease Pat63 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
+/. - c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #2 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup 3211_3212insGT - ABCA4_000998 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam8PatFBP_9 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown ACMG pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - Mena et al., 2020 submitted. - rs387906385 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown ACMG pathogenic g.94508435_94508436dup g.94042879_94042880dup - - ABCA4_000998 - Mena et al., 2020 submitted - rs387906385 Germline ? - - - - DNA SEQ-NG-IT blood gene panel (ABCA4, CNGB3, ELOVL4, PROM1) STGD1 - Mena et al., 2020 submitted. - M no Argentina - - - - - 1 Marcela Mena
+?/. - c.3210_3211dup r.(?) p.(Ser1071CysfsTer14) Parent #2 - likely pathogenic g.94508435_94508436dup g.94042879_94042880dup 3211_3212insGT - ABCA4_000998 - PubMed: Riera 2017 - - Germline yes - - - - DNA SEQ-NG - 212-gene panel retinal disease Fi15/32 PubMed: Riera 2017 patient - - Spain - - - - - 1 LOVD
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup p.Ser1071Cysfs*14 - ABCA4_000998 - PubMed: Birtel 2018 - - Unknown - - - - - DNA SEQ - - retinal disease 63 PubMed: Birtel 2018 pseudodominant inheritance M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 118 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 119 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 120 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 121 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 122 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 123 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 124 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 125 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT - ABCA4_000998 no variant 2nd chromosome PubMed: Riveiro-Alvarez 2008 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 126 PubMed: Riveiro-Alvarez 2008 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT (22) FS - ABCA4_000998 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-165 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT (22) FS - ABCA4_000998 no variant 2nd chromosome; no segregation analysis done PubMed: Aguirre-Lamban 2009 - - Unknown - - - - - DNA PE, SEQ, DHPLC, MLPA - APEX retinal disease ARDM-167 PubMed: Aguirre-Lamban 2009 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 277 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 278 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 279 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 280 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 281 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 282 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3211insGT, Frameshift - ABCA4_000998 no variant 2nd chromosome PubMed: Aguirre-Lambán 2011 - - Unknown - - - - - DNA PE, SEQ - APEX retinal disease Unknown 283 PubMed: Aguirre-Lambán 2011 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3208_3209insTG - ABCA4_000998 - PubMed: Huang 2014 - - Unknown - - - - - DNA ? - - retinal disease P34 PubMed: Huang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3209_3210dup - ABCA4_000998 - PubMed: Parker 2016 - - Unknown - - - - - DNA ? - - retinal disease 6 PubMed: Parker 2016 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211insGT,p.Ser1071CysfsTer14 - ABCA4_000998 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 13083 PubMed: Fujinami 2019 191 F, 154 M in this study - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211insGT,p.Ser1071CysfsTer14 - ABCA4_000998 - PubMed: Fujinami 2019 - - Unknown - - - - - DNA SEQ-NG - SEQ-NG (143 cases), APEX (44 cases), SSCP (24 cases), SEQ (134) retinal disease 15030 PubMed: Fujinami 2019 191 F, 154 M in this study - ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 no segregation analysis done PubMed: Khan 2019 - - Unknown - - - - - DNA SEQ-NG, MIPsm - smMIPs of exons and few intronic regions retinal disease 67223 PubMed: Khan 2019 - - ? France - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 - ABCA4_000998 no segregation analysis done PubMed: Hull 2020 - - Unknown - - - - - DNA PE, SEQ-NG - APEX or SEQ-NG retinal disease Unknown 1132 PubMed: Hull 2020 - - ? New Zealand white - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup het c.3210_3211dup p.Ser1071Cysfs*14 - ABCA4_000998 - PubMed: Gliem 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 70 PubMed: Gliem 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0190 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0521 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-0894 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-0953 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1041 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1047 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1048 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Parent #1 - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline yes - - - - DNA SEQ-NG - - retinal disease MD-1107 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1230 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1339 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease MD-1348 PubMed: Del Pozo-Valero 2020 - - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1669 PubMed: Del Pozo-Valero 2020 - - yes Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Both (homozygous) - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Del Pozo-Valero 2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease RP-1819 PubMed: Del Pozo-Valero 2020 endogamy - ? Spain - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup p.(Ser1071Cysfs*14) - ABCA4_000998 - PubMed: Jespersgaard 2019 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 331 PubMed: Jespersgaard 2019 - - ? Denmark - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup/p.S1071Cfs*14 - ABCA4_000998 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 470 PubMed: Weisschuh 2020 - M ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup/p.S1071Cfs*14 - ABCA4_000998 no segregation analysis done PubMed: Weisschuh 2020 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 231 PubMed: Weisschuh 2020 - F ? Germany - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 het - ABCA4_000998 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2017-125-158 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 HET - ABCA4_000998 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-256-374 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 Het - ABCA4_000998 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2017-259-008 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 het - ABCA4_000998 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - STGDMD panel retinal disease 2019-269-234 Prevention Genetics - - ? - United Kingdom (Great Britain) - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT p.Ser1071Cysfs*14 Het - ABCA4_000998 - Prevention Genetics - - Unknown - - - - - DNA SEQ-NG - IRD panel retinal disease 2020-066-217 Prevention Genetics - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous - ABCA4_000998 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 2985-3696 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous - ABCA4_000998 - PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3069-3795 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous - ABCA4_000998 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3273-4044 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous - ABCA4_000998 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 3394-4147 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup - ABCA4_000998 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ - - retinal disease 4330-6136 PubMed: Goetz 2020 4330 is a family member of 4329 - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup - ABCA4_000998 no variant 2nd chromosome PubMed: Goetz 2020 - - Unknown - - - - - DNA SEQ-NG-I - solid state SBS retinal disease 5594-6750 PubMed: Goetz 2020 - - ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210ins2 p.S1071fs - ABCA4_000998 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 19783 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210insTG p.S1071Cfs - ABCA4_000998 - PubMed: Fakin 2016 - - Unknown - - - - - DNA SEQ-NG - - retinal disease 21890 PubMed: Fakin 2016 - F ? - - - - - - 1 Stéphanie Cornelis
+/. 22 c.3210_3211dup r.(?) p.(Ser1071Cysfs*14) Unknown - pathogenic (recessive) g.94508435_94508436dup g.94042879_94042880dup c.3210_3211dup (p.Ser1071fs) - ABCA4_000998 no segregation analysis done PubMed: Zernant 2017 - - Unknown - - - - - DNA SEQ-NG-I - - retinal disease 9018 PubMed: Zernant 2017 - - ? United States - - - - - 1 Stéphanie Cornelis
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