Full data view for gene NCF1

Information The variants shown are described using the NM_000265.5 transcript reference sequence.

394 entries on 4 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     
+/. _1_11 c.-70_*216{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_74188309)_(74203720_?)del g.(?_74773962)_(74789376_?)del del NCF1 - NCF1_000061 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - 1 Johan den Dunnen
+/. _1_11 c.-70_*216{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_74188309)_(74203720_?)del g.(?_74773962)_(74789376_?)del del NCF1 - NCF1_000061 - PubMed: De Boer 2015 - - Germline - - - - - DNA SEQ - - CGD - PubMed: De Boer 2015 2-generation family, 2 affected, unaffected heterozygous carrier parents - - - - - - - - 2 Johan den Dunnen
+/. _1_11_ c.-70_*216{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_74188309)_(74203720_?)del g.(?_74773962)_(74789376_?)del del NCF1 - NCF1_000061 - PubMed: Winkler 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - CGD Pat2 PubMed: Winkler 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Germany - - - - - 1 Johan den Dunnen
+/. _1_11_ c.-70_*216{0} r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_74188309)_(74203659_?)del - del NCF1, hg19 (74188309-74203659)x0 - NCF1_000061 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA arrayCGH, MLPA, SEQ-NG - - IMD Pat104,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected parents F - Norway - - - - - 1 Johan den Dunnen
-/. - c.66G>C r.(?) p.(Gln22His) Unknown - benign g.74188444G>C g.74774097G>C - - NCF1_000031 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.72+1G>A r,spl p.? Parent #2 - pathogenic (recessive) g.74188451G>A g.74774104G>A IVS1+1G>A - NCF1_000032 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Noack 2001, Journal: Noack 2001 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.72+3G>T r,spl p.? Maternal (confirmed) - pathogenic (recessive) g.74188453G>T g.74774106G>T IVS1+3G>T - NCF1_000033 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat2 PubMed: Noack 2001, Journal: Noack 2001 - F - United States Europe - - - - 1 Johan den Dunnen
+/. 1i_4i c.(72+1_73-1)_(395+1_396-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(74188451_74191612)_(74193769_74195125)del g.(74774104_74777266)_(74779423_74780779)del del ex2-4 - NCF1_000064 - PubMed: Raptaki 2013 - - Germline - - - - - DNA SEQ - - CGD PatU(N0168) PubMed: Raptaki 2013 - M - Greece - - - - - 1 Johan den Dunnen
+/. 1i_10i c.(72+1_73-1)_(1051+1_1052-1)del r.? p.? Both (homozygous) - pathogenic (recessive) g.(74188451_74191612)_(74203049_74203382)del g.(74774104_74777266)_(74788705_74789038)del del ex2-10 - NCF1_000065 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat44(N0098) PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
-/. - c.73G>A r.(?) p.(Val25Met) Unknown - benign g.74191613G>A g.74777267G>A - - NCF1_000034 - PubMed: Roos 2021, Journal: Roos 2021 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Unknown - pathogenic g.74191615_74191616del g.74777269_74777270del NCF1(NM_000265.7):c.75_76delGT (p.Y26Hfs*26) - NCF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Unknown - VUS g.74191615_74191616del - NCF1(NM_000265.6):c.75_76delGT (p.Y26Hfs*26) - NCF1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Noack 2001, Journal: Noack 2001 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Parent #1 - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat1 PubMed: Noack 2001, Journal: Noack 2001 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Paternal (confirmed) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat2 PubMed: Noack 2001, Journal: Noack 2001 - F - United States Europe - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Maternal (confirmed) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat3 PubMed: Noack 2001, Journal: Noack 2001 - M - United States - 02y - - - 2 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Paternal (inferred) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - CGD Pat4 PubMed: Noack 2001, Journal: Noack 2001 - M - United States Hispanic - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) Parent #1 - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Noack 2001, Journal: Noack 2001 - - Germline - - - - - DNA SEQ - - Healthy/Control Pat3m PubMed: Noack 2001, Journal: Noack 2001 mother patient 3 F - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Paternal (confirmed) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam1 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Maternal (confirmed) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam2 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Paternal (inferred) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam3 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Maternal (confirmed) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam4 PubMed: Roos 2006, Journal: Roos 2006 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Maternal (inferred) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam5 PubMed: Roos 2006, Journal: Roos 2006 - - - - white - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Paternal (inferred) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Roos 2006, Journal: Roos 2006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD Fam6 PubMed: Roos 2006, Journal: Roos 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.75_76del p.Tyr26Hisfs*26 Parent #1 - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Volpp 1993, Journal: Volpp 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD PatSR PubMed: Volpp 1993, Journal: Volpp 1993 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.75_76del p.Tyr26Hisfs*26 Both (homozygous) - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: Volpp 1993, Journal: Volpp 1993 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD PatKS PubMed: Volpp 1993, Journal: Volpp 1993 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Parent #1 - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - Germline - - - - - DNA SEQ - - CGD - PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008 - - - France - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) Paternal (confirmed) - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: van de Vosse 2009, Journal: van de Vosse 2009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CGD patient PubMed: van de Vosse 2009, Journal: van de Vosse 2009 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Wolach 2008, Journal: Wolach 2008 - - Germline - - - - - DNA SEQ - - CGD Pat25 PubMed: Wolach 2008, Journal: Wolach 2008 - F yes Israel Arab - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del - - NCF1_000013 - PubMed: Jurkowska 2004 - - Germline - - - - - DNA SEQ - - CGD patient PubMed: Jurkowska 2004 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.75_76del r.(?) p.(Tyr26Hisfs*26) Parent #1 - pathogenic (recessive) g.74191615_74191616del - - - NCF1_000013 - PubMed: Jurkowska 2004 - - Germline - - - - - DNA SEQ - - CGD patient PubMed: Jurkowska 2004 - - - Poland - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat1 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat2 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat3 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat4 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat5 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat6 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat7 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat8 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat9 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat10 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat11 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat12 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat13 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat14 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat15 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat16 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
+/. 2 c.75_76del r.(?) p.(Tyr26HisfsTer26) Both (homozygous) - pathogenic (recessive) g.74191615_74191616del g.74777269_74777270del 75_76delGT - NCF1_000013 - PubMed: Rawat 2021 - - Germline - - - - - DNA SEQ - - CGD NCF1-Pat17 PubMed: Rawat 2021 patient - - India - - - - - 1 Johan den Dunnen
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