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.

1896 entries on 19 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     
+/. 40 c.[5461-10T>C;5603A>T] r.(?) p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)] Parent #2 - pathogenic g.94476467T>A - c.[5461-10T>C;5603A>T] - ABCA4_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 40 c.[5461-10T>C;5603A>T] r.(?) p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)] Parent #2 - pathogenic g.94476467T>A - c.[5461-10T>C;5603A>T] - ABCA4_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. 40 c.[5461-10T>C;5603A>T] r.(?) p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)] Both (homozygous) - pathogenic g.94476467T>A - c.[5461-10T>C;5603A>T] - ABCA4_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 40 c.[5461-10T>C;5603A>T] r.(?) p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)] Parent #2 - pathogenic g.94476467T>A - c.[5461-10T>C;5603A>T] - ABCA4_000007 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #2 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 predicted benign PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
+/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - pathogenic g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Eisenberger 2013 - rs1801466 Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - M no Germany white - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A 5603A>T - ABCA4_000007 - PubMed: Webster 2001 - - Germline - ExAC 5406, 121330, 156, 0.04456 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Webster 2001 Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. ? ? United States - - - - - 1 Stéphanie Cornelis
+/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #1 - pathogenic g.94476467T>A g.94010911T>A c.5461-10T>C, c.5603A>T - ABCA4_000007 - PubMed: Jonsson 2013 - - Germline ? - - - - DNA PE, arraySNP, PCR, SEQ - APEX ? - PubMed: Jonsson 2013 Also c.4203C>A was identified M yes Sweden Jämtland - - - - 1 Stéphanie Cornelis
+?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Both (homozygous) - likely pathogenic g.94476467T>A g.94010911T>A c.5461-10T>C, c.5603A>T - ABCA4_000007 - PubMed: Jonsson 2013 - - Germline yes - - - - DNA PE, arraySNP, PCR, SEQ - APEX ? - PubMed: Jonsson 2013 - F yes Sweden Jämtland - - - - 1 Stéphanie Cornelis
+/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - pathogenic g.94476467T>A g.94010911T>A c.5503A>T - ABCA4_000007 - PubMed: Chacón-Camacho 2013 - - Germline - 5406, 121330, 156, 0.04456 - - - DNA PCR, SEQ - - STGD1 - PubMed: Chacón-Camacho 2013 - - ? Mexico ? - - - - 1 Stéphanie Cornelis
+?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Maternal (confirmed) - likely pathogenic g.94476467T>A g.94010911T>A c.5603A>T - ABCA4_000007 this is most likely a non-causative polymorphism PubMed: Müller 2015 - - Germline ? 5406, 121330, 156, 0.04456 - - - DNA SEQ - - ? - PubMed: Müller 2015 ? ? ? Germany white - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Unknown - VUS g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Eisenberger 2013 - rs1801466 Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ - - retinal disease - PubMed: Eisenberger 2013 - F no Germany German - - - - 1 Stéphanie Cornelis
?/. 40 c.5603A>T r.(5603a>u) p.(Asn1868Ile) Parent #1 ACMG VUS (!) g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Cornelis 2017, Journal: Cornelis 2017, Journal: Cornelis 2023 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.5603A>T r.(?) p.(Asn1868Ile) Paternal (confirmed) - likely pathogenic g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Nassisi 2018 ClinVar-99390 rs1801466 Germline ? - - - - DNA SEQ - - STGD1 30060493-Fam2672PatCIC05266 PubMed: Nassisi 2018 - M no France - >18y - - - 1 Marco Nassisi
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #2 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #2 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #1 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #1 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #2 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #1 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #1 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 unknown variant 2nd allele PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
-/. 40 c.5603A>T r.(?) p.(Asn1868Ile) Parent #2 - benign g.94476467T>A g.94010911T>A - - ABCA4_000007 - PubMed: Khan 2019 - - Unknown no - - - - DNA SEQ, MIPsm - - STGD1 ? PubMed: Khan 2019 - - - Germany - - - - - 1 Stéphanie Cornelis
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