Full data view for gene CFTR

Information The variants shown are described using the NM_000492.3 transcript reference sequence.

453 entries on 5 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     
?/. 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - VUS g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 - - - - Unknown - - - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/+ 11 c.1521_1523del r.(?) p.(Phe508del) Unknown - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del F508del, c.1521_1523delCTT - CFTR_000001 see the CFTR2 database for details copy received from the CFTR2 database-1 - rs113993960 SUMMARY record - 99061/142036 chromosomes CFTR - 0 - DNA SEQ - - CF - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - 1 Johan den Dunnen
+/. - c.1521_1523del r.(?) p.(Phe508del) Unknown - pathogenic g.117199646_117199648del g.117559592_117559594del CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1521_1523del r.(?) p.(Phe508del) Unknown - pathogenic g.117199646_117199648del g.117559592_117559594del CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1521_1523del r.(?) p.(Phe508del) Unknown - pathogenic g.117199646_117199648del g.117559592_117559594del CFTR(NM_000492.3):c.1521_1523delCTT (p.F508del) - CFTR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1521_1523del r.(?) p.(Phe508del) Parent #1 - pathogenic g.117199646_117199648del g.117559592_117559594del - - CFTR_000001 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113993960 Germline - 9/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 9 Mohammed Faruq
+/. - c.1521_1523del r.(?) p.(Ile507del) Both (homozygous) - pathogenic (recessive) g.117199644_117199646del g.117559590_117559592del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - protein PCRm - - CF - Sasaki 2020, submitted - - no Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117199646_117199648del 1521_1523delCTT - CFTR_000001 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. Sasaki 2020, submitted - - Germline - - - 0 - DNA PCRm - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Parent #1 - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA PCRm - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
+/. - c.1521_1523del r.(?) p.(Phe508del) Both (homozygous) - pathogenic (recessive) g.117199646_117199648del g.117559592_117559594del 1521_1523delCTT - CFTR_000001 - Sasaki 2020, submitted - - Germline - - - 0 - DNA SEQ - - CF - Sasaki 2020, submitted - - - Ireland - - 0 - - 1 Erina Sasaki
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