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.

1132 entries on 12 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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 17 c.2588G>C r.spl? p.(Gly863Ala) Unknown - pathogenic g.94517254C>G g.94051698C>G - - ABCA4_000034 - - - rs76157638 Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 17 c.2588G>C r.spl? p.(Gly863Ala) Parent #1 - pathogenic g.94517254C>G g.94051698C>G - - ABCA4_000034 - PubMed: Braun 2013 - rs76157638 Unknown yes - - - - DNA SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected parents F no United States - - - - - 1 Johan den Dunnen
+/. 17 c.2588G>C r.spl? p.(Gly863Ala) Maternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G - - ABCA4_000034 - PubMed: Braun 2013 - rs76157638 Germline yes - - - - DNA, RNA RT-PCR, SEQ - - STGD - PubMed: Braun 2013 2-generation family, 1 affected, unaffected carrier parents M no United States - - - - - 1 Johan den Dunnen
+/+ 17 c.2588G>C r.spl? p.(?) Parent #1 - pathogenic g.94517254C>G g.94051698C>G - - ABCA4_000034 - PubMed: Sciezynska 2015 - rs76157638 Germline - - - - - DNA SEQ, SEQ-NG-R - - STGD - PubMed: Sciezyiska 2015 - - - Poland - - - - - 1 Monika Oldak
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G - - ABCA4_000034 - PubMed: Alapati 2014 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PE, PCR, SEQ - APEX ? - PubMed: Alapati 2014 - ? ? United States American - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Paternal (confirmed) - VUS g.94517254C>G g.94051698C>G G2588C - ABCA4_000034 - PubMed: Allikmets 1997; PubMed: Allikmets 1997 - rs76157638 Germline - ExAC 24, 121324, 0, 0.0001978 - - - DNA HD, SEQ - - STGD1 - PubMed: Anderson 1995 - ? no - ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.(Gly863Ala) Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Maugeri 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA HD, SEQ - - STGD1 - PubMed: Maugeri 1999 - ? ? Sweden;Germany;Netherlands - - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.? Paternal (inferred) - likely pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.? Paternal (inferred) - likely pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 - ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.spl? p.? Unknown - VUS g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline - - - - - DNA HD, SEQ - - CORD - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.? Paternal (inferred) - likely pathogenic g.94517254C>G g.94051698C>G [G2588C (;) G2828A] - ABCA4_000034 - PubMed: Papaioannou 2000 - rs76157638 Germline ? - - - - DNA HD, SEQ - - ? - PubMed: Papaioannou 2000 Possibly combined with one of the other mutations listed mentioned in this paper (PubMed: Papaioannou 2000), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. ? ? United Kingdom (Great Britain) ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Maternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline ? ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.(Gly863Ala) Maternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.(Gly863Ala) Maternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline ? ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected F ? - ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Paternal (inferred) - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 2-generation family, 1 affected M ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G GGA > GCA - ABCA4_000034 - PubMed: Briggs 2001 - rs76157638 Germline ? ExAC 601, 118484, 2, 0.005072 - - - DNA SSCA, SEQ - - STGD1 - PubMed: Briggs 2001 - ? ? - ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G G863A - ABCA4_000034 - PubMed: Lewis 1999 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 4 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl p.[(Gly863Ala,Gly863del)] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.[(Gly863Ala,Gly863del)] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. 17 c.2588G>C r.(?) p.(Gly863Ala) Unknown - likely benign g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
-?/. 17 c.2588G>C r.(?) p.(Gly863Ala) Unknown - likely benign g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 3 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Parent #1 - likely pathogenic g.94517254C>G g.94051698C>G G863A, R1898H, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.(?) p.[(Gly863Ala, Gly863del)] Parent #1 - likely pathogenic g.94517254C>G g.94051698C>G G863A, R1898H, 2828G>A - ABCA4_000034 - PubMed: Lewis 1999, PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 3-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Parent #1 - likely pathogenic g.94517254C>G g.94051698C>G R572Q, G863A - ABCA4_000034 - PubMed: Lewis 1999 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 3 affected ? ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G c.2588G>C - ABCA4_000034 - PubMed: Wang 2014 - rs76157638 Germline - ExAC 173, 121304, 0, 0.001426 - - - DNA SEQ-NG-I, SEQ - - retinal disease - PubMed: Wang 2014 - ? ? - ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl p.[(Gly863Ala,Gly863del)] Both (homozygous) - pathogenic g.94517254C>G g.94051698C>G 2588G>C; 2828G>A - ABCA4_000034 - PubMed: Klevering 2004 - rs76157638 Germline ? - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - M ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl p.[(Gly863Ala,Gly863del)] Parent #2 - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C; 2828G>A - ABCA4_000034 - PubMed: Klevering 2004 - rs76157638 Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl p.[(Gly863Ala,Gly863del)] Parent #1 - likely pathogenic (recessive) g.94517254C>G g.94051698C>G 2588G>C; 2828G>A - ABCA4_000034 unknown variant 2nd chromosome PubMed: Klevering 2004 - rs76157638 Germline - - - - - DNA PE, SSCA, SEQ - APEX CORD - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl p.[(Gly863Ala,Gly863del)] Parent #1 - pathogenic g.94517254C>G g.94051698C>G 2588G>C; 2828G>A - ABCA4_000034 - PubMed: Klevering 2004 - rs76157638 Germline - - - - - DNA PE, SSCA, SEQ - APEX retinal disease - PubMed: Klevering 2004 - F ? Netherlands;Germany white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G G-to-C transversion of nucleotide 2588 - ABCA4_000034 - PubMed: Zhang 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G G-to-C transversion of nucleotide 2588 - ABCA4_000034 - PubMed: Zhang 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G G-to-C transversion of nucleotide 2588 - ABCA4_000034 - PubMed: Zhang 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G G-to-C transversion of nucleotide 2588 - ABCA4_000034 - PubMed: Zhang 1999 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SSCA, SEQ - - STGD1 - PubMed: Zhang 1999 - F ? - white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - VUS g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 2 affected M ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.? Maternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Shroyer 2000 - rs76157638 Germline ? - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.spl? p.? Maternal (confirmed) - pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA Southern, PCR, SEQ - - STGD1 - PubMed: Yatsenko 2003 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.spl? p.? Paternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C, 2828G>A - ABCA4_000034 - PubMed: Shroyer 2000 - rs76157638 Germline - - - - - DNA SSCA, HD, SEQ - - STGD1 - PubMed: Lewis 1999 2-generation family, 1 affected F ? United States white - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000, PubMed: Gerth 2002 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
-?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely benign g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000, PubMed: Gerth 2002 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - M ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.(?) p.[(Gly863Ala, Gly863del)] Parent #1 - pathogenic g.94517254C>G g.94051698C>G R572Q-2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - - - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000, PubMed: Gerth 2002 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000, PubMed: Gerth 2002 - F ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline ? ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - likely pathogenic g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Rivera 2000 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA DGGE, DHPLC, SSCA, PCR, SEQ - - STGD1 - PubMed: Rivera 2000 - ? ? Germany ? - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Maternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G 2588G→C - ABCA4_000034 - PubMed: Yatsenko 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Maternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G 2588G→C - ABCA4_000034 - PubMed: Yatsenko 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 2 affected F ? United States white - - - - 1 Stéphanie Cornelis
+?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Paternal (confirmed) - likely pathogenic g.94517254C>G g.94051698C>G 2588G→C - ABCA4_000034 - PubMed: Yatsenko 2001 - rs76157638 Germline yes ExAC 601, 118484, 2, 0.005072 - - - DNA PCR, SEQ - - STGD1 - PubMed: Yatsenko 2001 2-generation family, 1 affected M ? United States white - - - - 1 Stéphanie Cornelis
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
?/. 17 c.2588G>C r.[2588g>c,2588_2590del] p.[Gly863Ala,Gly863del] Unknown - VUS g.94517254C>G g.94051698C>G 2588G>C - ABCA4_000034 - PubMed: Webster 2001 - rs76157638 Germline - ExAC 601, 118484, 2, 0.005072 - - - 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
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