### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGR2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "AGR2" "anterior gradient 2 homolog (Xenopus laevis)" "7" "p21.3" "unknown" "NC_000007.13" "UD_132438396367" "" "https://www.LOVD.nl/AGR2" "" "1" "328" "10551" "606358" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/AGR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-16 18:56:46" "00006" "2022-10-03 13:40:43" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002244" "AGR2" "anterior gradient homolog 2 (Xenopus laevis)" "001" "NM_006408.3" "" "NP_006399.1" "" "" "" "-187" "796" "528" "16844738" "16832264" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "04246" "IBD" "bowel disease, inflammatory (IBD)" "" "" "" "" "" "00006" "2015-05-01 23:30:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00246683" "" "" "" "2" "" "03306" "" "2 Generation Family, 2 affected (1M, 1F), unaffected parents heterozygous carrier" "F" "yes" "" "05y" "0" "yes" "" "" "" "00418593" "" "" "" "4" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV1" "00418594" "" "" "00418593" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "cousin" "F" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV2" "00418595" "" "" "00418593" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "cousin" "F" "yes" "Oman" "" "0" "" "" "" "Fam1PatIV4" "00418596" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Bahrain" "" "0" "" "" "Syria" "Fam2PatIII1" "00418597" "" "" "" "3" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iraq" "" "0" "" "" "" "Fam3PatIV1" "00418598" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Bahrain" "" "0" "" "" "Syria" "Fam4PatII1" "00418599" "" "" "" "2" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "Fam5PatII1" "00418600" "" "" "00418599" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam5PatII2" "00418601" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Oman" "" "0" "" "" "" "Fam6PatIII1" "00418602" "" "" "" "4" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7b" "00418603" "" "" "00418602" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam7s" "00418604" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "2-generation family, 1 affected, adopted" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam8" "00418605" "" "" "" "1" "" "00006" "{PMID:Bertoli-Avella 2022:34952832}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00246683" "04246" "00418593" "00128" "00418594" "00128" "00418595" "00128" "00418596" "00128" "00418597" "00128" "00418598" "00128" "00418599" "00128" "00418600" "00128" "00418601" "00128" "00418602" "00128" "00418603" "00128" "00418604" "00128" "00418605" "00128" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00128, 04246 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000186531" "04246" "00246683" "03306" "Familial, autosomal recessive" "00y" "respiratory distress (HP:0002098), Recurrent pneumonia (HP:0006532), Recurrent bacterial infections (HP:0002718), Recurrent lower respiratory tract infections (HP:0002783), Iron deficiency anemia (HP:0001891), Inflammation of the large intestine (HP:0002037), Interstitial pulmonary abnormality (HP:0006530), Chronic diarrhea (HP:0002028), Chronic bronchitis (HP:0004469), Abnormal lung morphology (HP:0002088), no chrons disease (-HP:0100280), no ulcerative colitis (-HP:0100279)" "00y" "" "0y" "" "" "" "" "" "DPLD-in the immunocompromised host" "0000309929" "00128" "00418593" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight below 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, exertional dyspnea, basal crackles, bronchial wall thickening, hilar lymphadenopathy mild bronchiectasis, fibrotic bands; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities, ECG normal" "14d" "" "" "" "" "" "" "" "cystic fibrosis, primary ciliary dyskinesia" "0000309930" "00128" "00418594" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight below 5th percentile, height at 10th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, bilateral crackles, mild bronchiectasis hilar lymphadenopathy; no immunological abnormalities; no gastroenteric abnormalities; mitral valve prolapse, mitral regurgitation" "6m" "" "" "" "" "" "" "" "cystic fibrosis, primary ciliary dyskinesia, primary immunodeficiency" "0000309931" "00128" "00418595" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight below 5th percentile; no dysmorphism; delayed motor development with right hemiplegia; normal mental development; hemiparesis, paucity in the movement right side body; recurrent lower respiratory tract infections; chronic coughing, recurrent wheezing episodes, dyspnea, bilateral crackles, bronchial wall thickening, mediastinal and hilar lymphadenopathy; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities" "7d" "" "" "" "" "" "" "" "primary immunodeficiency, cystic fibrosis, primary ciliary dyskinesia, aspiration syndrome and mitochondrial cytopathy" "0000309932" "00128" "00418596" "00006" "Familial, autosomal recessive" "" "failure to thrive; prominent forehead, upslanting palpebral fissures, thin upper lips; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, pneumonia, hyperactive airway disease; no immunological abnormalities; acute gastroenteritis , vomiting, severe gastroesophag eal reflux, chronic diarrhea; no cardiovascular abnormalities" "1d" "" "" "" "" "" "" "" "cystic fibrosis" "0000309933" "00128" "00418597" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight, height and ofc below 5th percentile; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; mild respiratory tract infections; no immunological abnormalities; chronic diarrhea, episodic vomiting, lethargy; no cardiovascular abnormalities" "2d" "" "" "" "" "" "" "" "type 1 distal, renal tubular acidosis, congenital enteropathies, chloride losing diarrhea, primary immunodeficiency" "0000309934" "00128" "00418598" "00006" "Familial, autosomal recessive" "" "failure to thrive, weight 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic coughing, severe pneumonia; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities; otitis media, sensorineural hearing impairment (cochlear implant)" "01y" "" "" "" "" "" "" "" "cystic fibrosis" "0000309935" "00128" "00418599" "00006" "Familial, autosomal recessive" "" "failure to thrive; no dysmorphism; normal motor development; speech delay; global developmental delay, hypotonia; recurrent lower respiratory tract infections; interstitial lung disease; slightly low percentage of CD4+ T-cells; hepatomegaly; right sided heart failure, right ventricular and right atrial dilatation, tricuspid regurgitation, severe pulmonary hypertension" "8m" "" "" "" "" "" "" "" "cystic fibrosis, Niemann-Pick disease" "0000309936" "00128" "00418600" "00006" "Familial, autosomal recessive" "" "failure to thrive; no dysmorphism; mild motor delay; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; recurrent wheezing episodes, patch areas of ground glass appearance and scattered consolidations both lungs; no immunological abnormalities; choking, vomiting and chronic diarrhea, hepatomegaly; no cardiovascular abnormalities" "10d" "" "" "" "" "" "" "" "cystic fibrosis" "0000309937" "00128" "00418601" "00006" "Familial, autosomal recessive" "" "failure to thrive; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; bronchiectasis, chronic coughing; no immunological abnormalities; no gastroenteric abnormalities; no cardiovascular abnormalities" "6m" "" "" "" "" "" "" "" "cystic fibrosis, primary ciliary dyskinesia" "0000309938" "00128" "00418602" "00006" "Familial, autosomal recessive" "" "failure to thrive, low weight (weight <3rd percentile, height 25th percentile); no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic cough, pleural effusion, hilar lymphadenopathy bronchiectasis; leukocytosis, lymphocytosis; chronic diarrhea (improved after 2y), hepatomegaly; no cardiovascular abnormalities; chronic suppurative otitis media, mediastinal lymphadenopathy" "00y00m01d" "" "" "" "" "" "" "" "primary ciliary dyskinesia, cystic fibrosis primary immunodeficiency" "0000309939" "00128" "00418603" "00006" "Familial, autosomal recessive" "" "failure to thrive,low weight (weight <3rd percentile, height 10th- 25th percentile); no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; chronic cough, hilar lymphadenopathy; no immunological abnormalities; chronic diarrhea; no cardiovascular abnormalities; recurrent otitis media" "00y00m01d" "" "" "" "" "" "" "" "cystic fibrosis, primary immunodeficiency, malabsorption" "0000309940" "00128" "00418604" "00006" "Familial, autosomal recessive" "" "failure to thrive; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; bronchiectasi s, persistent segmental collapse left lower lobe, chronic productive cough; no immunological abnormalities; persistent vomiting, hepatomegaly and persistent cholestasis; no cardiovascular abnormalities" "2y" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000309941" "00128" "00418605" "00006" "Familial, autosomal recessive" "" "failure to thrive, height and weight below 5th percentile; no dysmorphism; normal motor development; normal mental development; no neurological abnormalities; recurrent lower respiratory tract infections; collapse/consolidation in segments of both lungs, subsegmental atelectasis, small bilateral axillary lymph nodes; leucocytosis; chronic diarrhea, abdominal distention with prominent veins, no visceromegaly; no cardiovascular abnormalities, ECG normal" "3d" "" "" "" "" "" "" "" "cystic fibrosis, primary immunodeficiency" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000247796" "00246683" "1" "03306" "03306" "2019-07-16 11:09:21" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000419888" "00418593" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419889" "00418594" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419890" "00418595" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419891" "00418596" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419892" "00418597" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419893" "00418598" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419894" "00418599" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419895" "00418600" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419896" "00418601" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419897" "00418602" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419898" "00418603" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419899" "00418604" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000419900" "00418605" "1" "00006" "00006" "2022-10-01 10:38:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 15 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000500680" "3" "50" "7" "16837300" "16837300" "subst" "4.06891E-6" "03306" "AGR2_000001" "g.16837300G>A" "1/250928 (gnomADeALL)" "" "" "" "" "Germline" "" "rs780638101" "0" "" "" "g.16797676G>A" "" "likely pathogenic (recessive)" "" "0000721394" "0" "50" "7" "16840974" "16840974" "subst" "0" "01943" "AGR2_000002" "g.16840974T>C" "" "" "" "AGR2(NM_006408.4):c.173A>G (p.Y58C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880065" "3" "90" "7" "16840820" "16840820" "subst" "0" "00006" "AGR2_000007" "g.16840820G>T" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16801196G>T" "" "pathogenic (recessive)" "" "0000880066" "3" "90" "7" "16840820" "16840820" "subst" "0" "00006" "AGR2_000007" "g.16840820G>T" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16801196G>T" "" "pathogenic (recessive)" "" "0000880067" "3" "90" "7" "16840820" "16840820" "subst" "0" "00006" "AGR2_000007" "g.16840820G>T" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16801196G>T" "" "pathogenic (recessive)" "" "0000880068" "3" "90" "7" "16837300" "16837300" "subst" "4.06891E-6" "00006" "AGR2_000001" "g.16837300G>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "" "" "0" "" "" "g.16797676G>A" "" "pathogenic (recessive)" "" "0000880069" "3" "90" "7" "16837300" "16837300" "subst" "4.06891E-6" "00006" "AGR2_000001" "g.16837300G>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16797676G>A" "" "pathogenic (recessive)" "" "0000880070" "3" "90" "7" "16837300" "16837300" "subst" "4.06891E-6" "00006" "AGR2_000001" "g.16837300G>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "" "" "0" "" "" "g.16797676G>A" "" "pathogenic (recessive)" "" "0000880071" "3" "90" "7" "16839367" "16839367" "subst" "0" "00006" "AGR2_000005" "g.16839367C>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16799743C>A" "" "pathogenic (recessive)" "" "0000880072" "3" "90" "7" "16839367" "16839367" "subst" "0" "00006" "AGR2_000005" "g.16839367C>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16799743C>A" "" "pathogenic (recessive)" "" "0000880073" "3" "90" "7" "16834456" "16918247" "del" "0" "00006" "AGR2_000003" "g.(?_16834456)_(16918247_?)del" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "del ex1-7 16834456-16918247" "" "Germline" "" "" "0" "" "" "g.(?_16794832)_(16878623_?)del" "" "pathogenic (recessive)" "" "0000880074" "3" "90" "7" "16837300" "16837300" "subst" "4.06891E-6" "00006" "AGR2_000001" "g.16837300G>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16797676G>A" "" "pathogenic (recessive)" "" "0000880075" "3" "90" "7" "16837300" "16837300" "subst" "4.06891E-6" "00006" "AGR2_000001" "g.16837300G>A" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16797676G>A" "" "pathogenic (recessive)" "" "0000880076" "3" "90" "7" "16839367" "16839367" "del" "0" "00006" "AGR2_000006" "g.16839367del" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "" "" "0" "" "" "g.16799743del" "" "pathogenic (recessive)" "" "0000880077" "3" "90" "7" "16834610" "16834610" "subst" "0" "00006" "AGR2_000004" "g.16834610C>T" "" "{PMID:Bertoli-Avella 2022:34952832}" "" "" "" "Germline" "" "" "0" "" "" "g.16794986C>T" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AGR2 ## Count = 15 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000500680" "00002244" "50" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000721394" "00002244" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Tyr58Cys)" "" "0000880065" "00002244" "90" "211" "0" "211" "0" "c.211C>A" "r.(?)" "p.(Pro71Thr)" "4" "0000880066" "00002244" "90" "211" "0" "211" "0" "c.211C>A" "r.(?)" "p.(Pro71Thr)" "4" "0000880067" "00002244" "90" "211" "0" "211" "0" "c.211C>A" "r.(?)" "p.(Pro71Thr)" "4" "0000880068" "00002244" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000880069" "00002244" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000880070" "00002244" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000880071" "00002244" "90" "330" "1" "330" "1" "c.330+1G>T" "r.spl" "p.?" "5i" "0000880072" "00002244" "90" "330" "1" "330" "1" "c.330+1G>T" "r.spl" "p.?" "5i" "0000880073" "00002244" "90" "" "0" "" "0" "cc.-187_(478+104_479-1){0}" "r.0?" "p.0?" "_1_7i" "0000880074" "00002244" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000880075" "00002244" "90" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(His117Tyr)" "6" "0000880076" "00002244" "90" "330" "1" "330" "1" "c.330+1del" "r.spl" "p.?" "5i" "0000880077" "00002244" "90" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Gly143Glu)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000247796" "0000500680" "0000419888" "0000880065" "0000419889" "0000880066" "0000419890" "0000880067" "0000419891" "0000880068" "0000419892" "0000880069" "0000419893" "0000880070" "0000419894" "0000880071" "0000419895" "0000880072" "0000419896" "0000880073" "0000419897" "0000880074" "0000419898" "0000880075" "0000419899" "0000880076" "0000419900" "0000880077"