### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OLA1) # 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}}" "OLA1" "Obg-like ATPase 1" "2" "q31.1" "unknown" "NC_000002.11" "UD_134753630924" "" "https://www.LOVD.nl/OLA1" "" "1" "28833" "29789" "611175" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/OLA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2026-04-03 23:10:11" "00006" "2026-04-04 16:27:04" ## 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}}" "00001535" "OLA1" "transcript variant 1" "002" "NM_013341.3" "" "NP_037473.3" "" "" "" "-186" "4170" "1191" "174937175" "175113365" "00000" "2012-09-13 13:38:30" "" "" ## 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}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OLA1" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00475209" "" "" "" "3" "" "00006" "{PMID:AlAbdi 2026:41887223}" "4-generation family, 3 affected, unaffected heterozygous carrier parents (first cousin), positive family history" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1PatIV2" "00475210" "" "" "00475209" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "relative" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1PatIV6" "00475211" "" "" "00475209" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "relative" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam1PatIV3" "00475212" "" "" "" "2" "" "00006" "{PMID:AlAbdi 2026:41887223}" "4-generation family, 3 affected, unaffected heterozygous carrier parents (first cousin), positive family history" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatV1" "00475213" "" "" "00475212" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam2PatV2" "00475214" "" "" "" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "3-generation family, 1 affected, unaffected heterozygous carrier parents, positive family history" "F" "no" "Portugal" "" "0" "" "" "" "Fam3PatIV8" "00475215" "" "" "" "2" "" "00006" "{PMID:AlAbdi 2026:41887223}" "5-generation family, 2 affected, unaffected heterozygous carrier parents (first cousin), positive family history" "F" "yes" "Turkey" "" "0" "" "" "" "Fam4PatVI3" "00475216" "" "" "00475215" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "paternal uncle" "M" "yes" "Turkey" "" "0" "" "" "" "Fam4PatV7" "00475217" "" "" "" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin), no family history" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5PatIII4" "00475218" "" "" "" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (second cousin), positive family history" "F" "yes" "Yemen" "" "0" "" "" "" "Fam6PatIII1" "00475219" "" "" "" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "2-generation family, 1 affected, unaffected heterozygous carrier parents, no family history" "F" "no" "Norway" "" "0" "" "" "" "Fam7PatIII1" "00475220" "" "" "" "2" "" "00006" "{PMID:AlAbdi 2026:41887223}" "5-generation family, 2 affected sisters, unaffected heterozygous carrier parents (first cousin), positive family history" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8PatIV1" "00475221" "" "" "00475220" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam8PatIV2" "00475222" "" "" "" "1" "" "00006" "{PMID:AlAbdi 2026:41887223}" "4-generation family, 1 affected, unaffected heterozygous carrier parents (first cousin), positive family history" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam9PatIV2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00475209" "05611" "00475210" "05611" "00475211" "05611" "00475212" "05611" "00475213" "05611" "00475214" "05611" "00475215" "05611" "00475216" "05611" "00475217" "05611" "00475218" "05611" "00475219" "05611" "00475220" "05611" "00475221" "05611" "00475222" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 05611 ## Count = 15 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000359922" "05611" "00475209" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); crawling on hands at 23 months; speech delay; intellectual disabilit; hypotonia; seizures, resolved; joint hypermobility; no limb contractures; skin laxity; mild scoliosis; blue sclera; deep-set eyes, subtle strabismus, hypotelorism, prominent forehead, depressed nasal bridge, smooth philtrum; echo mild mitral regurgitation; MRI brain plagiocephaly and mild ventricular dilatation; mild strabismus, bronchial asthma, mild-moderate dysphagia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359923" "05611" "00475210" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); 18m-sit; 3y-walk; speech delay; intellectual disabilit; hyperactivity, hypotonia, poor social skills, poor interactions on neurological evaluation; hypotonia; joint hypermobility; no limb contractures; skin laxity; blue sclera; crowded teeth, flat feet, genu recurvatum, features of connective tissue disorder ; MRI brain parieto-occipital subgaleal hematoma with tiny foci faintly right signal intensity, no evidence of bleeding; X-ray showed increased first metatarsal-proximal phalangeal angle bilaterally; repaired umbilical hernia" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359924" "05611" "00475211" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., prenatal unremarkable; failure to thrive; motor delay; 12m-sit; 20m-walk; speech delay; intellectual disabilit; joint hypermobility; no limb contractures; mild scoliosis; crowded teeth" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359925" "05611" "00475212" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., speech delay, dysarthria ; intellectual disabilit; severe attention deficit hyperactive disorder; mild generalized dystonia; febrile seizures; no limb contractures; kyphoscoliosis; long face, prominent eyes, long forehead; 15y-MRI brain mostly unremarkable with minor inflammatory changes present in paranasal sinuses; 16y-MRI spine severe thoracic dextroscoliosis without significant central canal narrowing or spinal cord abnormalities" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359926" "05611" "00475213" "00006" "Familial, autosomal recessive" "" "see paper; ..., prenatal unremarkable; motor delay; speech delay; intellectual disabilit; severe attention deficit hyperactive disorder; no seizures; joint hypermobility; limb contractures; skin laxity; scoliosis, S/P fixation; elongated face, prominent occiput, prominent forehead, proptotic eyes, arching eyebrows, low-set small ears, prominent incisors arachnodactyly; MRI brain vermal hypoplasia; severe scoliosis with Cobb angle around 47-54 degree" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359927" "05611" "00475214" "00006" "Familial, autosomal recessive" "4y7m" "see paper; ..., prenatal suspected craniosynostosis; motor delay; hypotonia (infancy); 11m-sit; 4y6m-walk; speech delay; intellectual disabilit; stereotypical movements, intolerance to frustration; seizures; joint hypermobility; no limb contractures; hypotelorism, upstlanted palpebral fissures, thin eyebrows, tall forehead; echo normal; 1y-MRI brain moderate hypotelorism, broad appearance eyeballs (symmetrical), horizontalization middle cerebellar peduncles, no vermian anomaly; craniosynostosis, strabismus, recurrent upper airway infections; functional heart murmur" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359928" "05611" "00475215" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., birth at term, caesarean section (history of caeserian section in earlier pregnancies); failure to thrive; motor delay; hypotonia (infancy); 12m-sit; 3y-walk; speech delay; intellectual disabilit; aggression; hypotonia; no seizures; joint hypermobility; no limb contractures; no scoliosis; triangular face, synophrys, proptosis, ptosis, midface hypoplasia, prominent ears, thick lower lip, microstomy, high palate, pectus excavatum, prominent umbilicus, single palmar crease; atrial septal defect, ventricular septal defect, peripheral pulmonary stenosis; 5y_MRI brain norma;; operated umbilical hernia; atrial septal defect, ventricular septal defect, peripheral pulmonary stenosis; hypothyroidism" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359929" "05611" "00475216" "00006" "Familial, autosomal recessive" "35y" "see paper; ..., failure to thrive; failure to thrive; motor delay; hypotonia (infancy); sit delayed; 15y-walk; speech delay; intellectual disabilit; aggression; hypotonia; 15y-seizure, generalized epilepsy; joint hypermobility; distal limb contractures, finger contractures, ulnar deviation, pes planovaldus; skin laxity; scoliosis; triangular face, medial eyebrow flare, proptosis, midface hypoplasia, prominent ears, thick lower lip, microstomy, high palate, open mouth, pectoral asymmetry, operated umbilical hernia, hyperemic plantar regions; operated umbilical hernia, malnutrition, cachexia, sleeping problems" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359930" "05611" "00475217" "00006" "Familial, autosomal recessive" "5y3m" "see paper; ..., 38w-caesarean section (breech presentation); failure to thrive; motor delay; hypotonia (infancy); 18m-sit; 3y6m-walk; speech delay; intellectual disabilit; hand biting, aggressive to siblings; hypotonia; no seizures; joint hypermobility; no limb contractures; no scoliosis; relative macrocephaly, anterior plagiocephaly, triangular face, synophrys, proptosis, midface hypoplasia, anteverted nose, short columella, thin upper lip, thick lower lip, downturned corners of mouth, microstomy, high palate, pectus carinatum; ECG normal; 2y-MRI brain ventriculomegaly, thin corpus callosum, deep sulci, brain atrophy; bilateral developmental hip dysplasia, serous otitis media, sleep apnea" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359931" "05611" "00475218" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., prenatal unremarkable; failure to thrive; motor delay; hypotonia (infancy); 24m-sit; 2y6m-walk; speech delay; intellectual disabilit; hyperactivity, hypotonia, poor social skills, poor interactions on neurological evaluation, attention deficit hyperactive disorder; hypotonia; febrile seizures; joint hypermobility; no limb contractures; skin laxity; upslanting palpebral fissures, bilateral 5th finger clinodactyly, flat feet, genu recurvatum, hemangioma on right upper quadrant abdomen, features suggestive of connective tissue disorder; 7m-MRI brain unremarkable; sleep apnea, gastroesophageal reflux (G-tube)" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359932" "05611" "00475219" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., prenatal unremarkable; motor delay; hypotonia (infancy); 16m-sit; 2y6m-walk; speech delay; intellectual disabilit; good social interaction with parents, difficulties with emotional regulation; hypotonia; short episodes eye-rolling over course of week; joint hypermobility; no limb contractures; no skin laxity; epicanthal folds, low anterior hairline, slight pectus excavatum; small ASD, 4y-normal on follow-up ; MRI brain gracile hippocampus which leads to bilaterally dilated temporal horns; EEG normal; bilateral myopia, reduced hearing, small ASD (hemodynamic significance), narrow auditory canal R-side" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" "0000359933" "05611" "00475220" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., premature delivery; motor delay; hypotonia (infancy); 12m-sit; 4y-walk; speech delay; intellectual disabilit; muscle tone; no seizures; joint hypermobility; no limb contractures; no skin laxity; no scoliosis; no blue sclera; microcephaly (OFC 45cm), high bossed forehead, thick bushy eye brows, long wide eye ; patent foramen ovale, lLeft ventricle false tendon; 4y-MRI brain unremarkable" "" "" "" "" "" "" "" "?;BTDD" "neurodevelopmental disorder, joint hypermobility" "0000359934" "05611" "00475221" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., premature delivery, cesarean section (complications preterm premature rupture of membranes), placental abruption, oligohydramnios; motor delay; hypotonia (infancy); 6y-walk unsteady gait ; speech delay; intellectual disabilit; microcephaly, visual impairment ; muscle tone; no seizures; joint hypermobility; no limb contractures; no skin laxity; no scoliosis; no blue sclera; microcephay (OFC 46cm), partial ptosis, large auricles, high narrow palate; 7y-MRI brain unremarkable" "" "" "" "" "" "" "" "?;BTDD" "neurodevelopmental disorder, joint hypermobility" "0000359935" "05611" "00475222" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., full-term pregnancy, cesarean section; motor delay; hypotonia (infancy); sit delayed; 2y11m-walk; speech delay; intellectual disabilit; anguage delays; attention deficit hyperactive disorder; hypotonia; no seizures; joint hypermobility; no limb contractures; no skin laxity; scoliosis; no blue sclera; facial asymmetry, torticollis left side, depressed nasal bridge, minimal coarse facial features with nasal congestion, intact posterior angulated auricles, short neck, chest revealed retrosternal indrawing ; patent ductus arteriosus, atrial septal defect, ventricular septal defect ; 3y-MRI brain lobal volume loss with cerebellar inferior vermian hypoplasia with incidental cervical findings; umbilical hernia, skeletal deformities, progressive thoracic scoliosis, abnormal skull shape" "" "" "" "" "" "" "" "" "neurodevelopmental disorder, joint hypermobility" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000476892" "00475209" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476893" "00475210" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476894" "00475211" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476895" "00475212" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476896" "00475213" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476897" "00475214" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476898" "00475215" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476899" "00475216" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476900" "00475217" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476901" "00475218" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476902" "00475219" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476903" "00475220" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000476904" "00475221" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476905" "00475222" "1" "00006" "00006" "2026-04-04 15:14:06" "" "" "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 = 17 "{{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}}" "0000011722" "3" "50" "2" "175080507" "175080507" "subst" "0" "00037" "OLA1_000001" "g.175080507T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.174215779T>C" "" "VUS" "" "0000304774" "0" "50" "2" "174946755" "174946755" "subst" "5.69059E-5" "01943" "OLA1_000002" "g.174946755G>A" "" "" "" "OLA1(NM_013341.4):c.766C>T (p.P256S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.174082027G>A" "" "VUS" "" "0000991832" "0" "30" "2" "175111506" "175111506" "subst" "0.000105796" "01804" "OLA1_000003" "g.175111506G>A" "" "" "" "OLA1(NM_013341.3):c.38C>T (p.(Pro13Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001071950" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071951" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071952" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071953" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071954" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071955" "3" "90" "2" "175006675" "175006675" "subst" "0" "00006" "OLA1_000006" "g.175006675G>A" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "" "" "0" "" "" "g.174141947G>A" "" "pathogenic (recessive)" "" "0001071956" "3" "90" "2" "175087760" "175087760" "subst" "0" "00006" "OLA1_000007" "g.175087760C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "" "" "0" "" "" "g.174223032C>T" "" "pathogenic (recessive)" "" "0001071957" "3" "90" "2" "175087760" "175087760" "subst" "0" "00006" "OLA1_000007" "g.175087760C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174223032C>T" "" "pathogenic (recessive)" "" "0001071958" "3" "90" "2" "175087760" "175087760" "subst" "0" "00006" "OLA1_000007" "g.175087760C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174223032C>T" "" "pathogenic (recessive)" "" "0001071959" "3" "90" "2" "175094084" "175094087" "dup" "0" "00006" "OLA1_000008" "g.175094084_175094087dup" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "" "" "0" "" "" "g.174229356_174229359dup" "" "pathogenic (recessive)" "" "0001071960" "3" "90" "2" "174987986" "174987986" "del" "4.3779E-6" "00006" "OLA1_000005" "g.174987986del" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "" "" "0" "" "" "g.174123258del" "" "pathogenic (recessive)" "" "0001071961" "3" "90" "2" "174987903" "174987903" "subst" "0" "00006" "OLA1_000004" "g.174987903C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174123175C>T" "" "pathogenic (recessive)" "" "0001071962" "3" "90" "2" "174987903" "174987903" "subst" "0" "00006" "OLA1_000004" "g.174987903C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "yes" "" "0" "" "" "g.174123175C>T" "" "pathogenic (recessive)" "" "0001071963" "3" "90" "2" "174987903" "174987903" "subst" "0" "00006" "OLA1_000004" "g.174987903C>T" "" "{PMID:AlAbdi 2026:41887223}" "" "" "" "Germline" "" "" "0" "" "" "g.174123175C>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 OLA1 ## Count = 17 "{{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}}" "0000011722" "00001535" "50" "373" "7254" "373" "7254" "c.373+7254A>G" "r.(=)" "p.(=)" "" "0000304774" "00001535" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Pro256Ser)" "" "0000991832" "00001535" "30" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0001071950" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071951" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071952" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071953" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071954" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071955" "00001535" "90" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0001071956" "00001535" "90" "373" "1" "373" "1" "c.373+1G>A" "r.spl" "p.?" "4i" "0001071957" "00001535" "90" "373" "1" "373" "1" "c.373+1G>A" "r.spl" "p.?" "4i" "0001071958" "00001535" "90" "373" "1" "373" "1" "c.373+1G>A" "r.spl" "p.?" "4i" "0001071959" "00001535" "90" "194" "0" "197" "0" "c.194_197dup" "r.(?)" "p.(Pro67CysfsTer4)" "" "0001071960" "00001535" "90" "650" "0" "650" "0" "c.650del" "r.(?)" "p.(His217ProfsTer4)" "" "0001071961" "00001535" "90" "728" "5" "728" "5" "c.728+5G>A" "r.631_728del" "p.Ile211ValfsTer5" "7i" "0001071962" "00001535" "90" "728" "5" "728" "5" "c.728+5G>A" "r.(631_728del)" "p.(Ile211ValfsTer5)" "7i" "0001071963" "00001535" "90" "728" "5" "728" "5" "c.728+5G>A" "r.(631_728del)" "p.(Ile211ValfsTer5)" "7i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011722" "0000476892" "0001071950" "0000476893" "0001071951" "0000476894" "0001071952" "0000476895" "0001071953" "0000476896" "0001071954" "0000476897" "0001071955" "0000476898" "0001071956" "0000476899" "0001071957" "0000476900" "0001071958" "0000476901" "0001071959" "0000476902" "0001071960" "0000476903" "0001071961" "0000476904" "0001071962" "0000476905" "0001071963"