### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B3GAT3) # 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}}" "B3GAT3" "beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)" "11" "q12" "unknown" "NC_000011.9" "UD_132465260832" "" "https://www.LOVD.nl/B3GAT3" "" "1" "923" "26229" "606374" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/B3GAT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-25 14:49:07" "00006" "2026-10-06 09:02:59" ## 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}}" "00003212" "B3GAT3" "beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)" "001" "NM_012200.3" "" "NP_036332.2" "" "" "" "-228" "1413" "1008" "62389647" "62382768" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00239" "MFS" "Marfan syndrome (MFS)" "AD" "154700" "" "autosomal dominant" "" "00006" "2013-10-09 21:34:54" "00006" "2021-12-10 21:51:32" "00340" "JDSCD" "joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects" "AR" "245600" "" "" "" "00006" "2014-03-03 23:32:00" "00006" "2025-06-05 16:35:36" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "B3GAT3" "00340" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00016301" "" "" "" "4" "" "00006" "{PMID:Baasanjav 2011:21763480}" "4-generation family, 4 affecteds, unaffected carrier parents" "-" "yes" "United Arab Emirates" "" "0" "" "" "" "" "00235371" "" "" "" "1" "" "02284" "{PMID:Ritelli 2019:31438591}" "" "F" "no" "(Italy)" "16y" "0" "" "" "" "patient" "00290461" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00418359" "" "" "" "1" "" "00006" "{PMID:Scott 2017:27550220}" "2 generation family, 1 affected, no family history" "M" "" "United States" "" "0" "" "" "Hispanic" "Ind1" "00465797" "" "" "" "1" "" "00006" "{PMID:von Oettingen 2014:24668659}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Arab Emirates" "" "0" "" "" "" "patient" "00465798" "" "" "" "8" "" "00006" "{PMID:Budde 2015:25893793}" "6-generation family, 8 affected (6F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Japan" "" "0" "" "" "" "family" "00465800" "" "" "" "1" "" "00006" "{PMID:Jones 2015:26086840}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Mexico" "" "0" "" "" "" "patient" "00465801" "" "" "" "2" "" "00006" "{PMID:Byrne 2020:31988067}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F;M" "" "Australia" "<00y09m" "0" "" "" "" "Fam1Pat1A/1B" "00465803" "" "" "" "1" "" "00006" "{PMID:Job 2016:27871226}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "cmh000720" "00465804" "" "" "" "1" "" "00006" "{PMID:Bloor 2017:29318063}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "patient" "00465805" "" "" "" "1" "" "00006" "{PMID:Bolund 2021:34537402}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Denmark" "" "0" "" "" "" "patient" "00465806" "" "" "" "1" "" "00006" "{PMID:Colman 2019:31196143}" "family, 1 affected, unaffected heterozygous carrier parents (third-degree consanguineous marriage)" "M" "yes" "India" "" "0" "" "" "" "Pat1" "00465807" "" "" "" "1" "" "00006" "{PMID:Colman 2019:31196143}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00465808" "" "" "" "1" "" "00006" "{PMID:Yauy 2018:28771243}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "France" "" "0" "" "" "Morocco" "Fam1Pat1" "00465809" "" "" "" "1" "" "00006" "{PMID:Yauy 2018:28771243}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "France" "" "0" "" "" "Morocco" "Fam2Pat2" "00465810" "" "" "" "2" "" "00006" "{PMID:Yauy 2018:28771243}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "yes" "France" "" "0" "" "" "Morocco" "Fam3Pat3" "00465811" "" "" "00465810" "1" "" "00006" "{PMID:Yauy 2018:28771243}" "sib" "" "yes" "France" "" "0" "" "" "Morocco" "Fam3Pat4" "00465812" "" "" "" "2" "" "00006" "{PMID:Yauy 2018:28771243}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "yes" "France" "" "0" "" "" "Morocco" "Fam4Pat5" "00465813" "" "" "00465812" "1" "" "00006" "{PMID:Yauy 2018:28771243}" "sib" "" "yes" "France" "" "0" "" "" "Morocco" "Fam4Pat6" "00465819" "" "" "" "1" "" "00006" "{PMID:Alazami 2016:27023906}" "patient" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam10" "00465852" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, no family history" "" "yes" "Tunisia" "" "0" "" "" "" "Pat9" "00465853" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, no family history" "" "yes" "Turkey" "" "0" "" "" "" "Pat10" "00465854" "" "" "" "1" "" "00006" "{PMID:Ranza 2017:28229453}" "patient, family history" "" "yes" "Turkey" "" "0" "" "" "" "Pat11" "00465861" "" "" "" "1" "" "00006" "contact me for details" "on behalf of patient" "F" "" "" "" "0" "" "" "" "private email" "00468693" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468694" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00485184" "" "" "" "1" "" "00006" "{PMID:Li 2022:35151321}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00485188" "" "" "" "2" "" "00006" "{PMID:Dasar 2024:39359951}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Turkey" "" "0" "" "" "" "FamPat1" "00485189" "" "" "00485188" "1" "" "00006" "{PMID:Dasar 2024:39359951}" "sister" "F" "" "Turkey" "" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00016301" "00340" "00235371" "00340" "00290461" "00198" "00418359" "00152" "00465797" "00340" "00465798" "05517" "00465800" "00198" "00465801" "05517" "00465803" "05517" "00465804" "00198" "00465805" "00198" "00465806" "00198" "00465807" "00198" "00465808" "00198" "00465809" "00198" "00465810" "00198" "00465811" "00198" "00465812" "00198" "00465813" "00198" "00465819" "00198" "00465852" "00198" "00465853" "00198" "00465854" "00198" "00465861" "00198" "00468693" "00198" "00468694" "00198" "00485184" "00239" "00485188" "00198" "00485189" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00239, 00340, 05517 ## Count = 28 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014893" "00340" "00016301" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "" "0000175632" "00340" "00235371" "02284" "Familial, autosomal recessive" "13y" "see paper; ..." "" "" "" "" "" "" "" "PDMCS" "" "" "0000309728" "00152" "00418359" "00006" "Isolated (sporadic)" "10y" "atrial septal defect, left ventricular non-compaction, patent ductus arteriosu, right ventricular hypertrophy, ventricular septal defect; no hypotonia; language delay; gross motor delay; feeding problems; MRI brain 1m-normal, 1y4m-mild truncation splenium of corpus callosum; relative macrocephaly, plagiocephaly, bilateral epicanthal folds, downslanting palpebral fissures, bilateral accessory nipples, widely spaced teeth, fifth finger clinodactyly" "" "" "" "" "" "" "" "MRXS34" "congenital heart defect, left ventricular non-compaction" "" "0000351239" "00340" "00465797" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., skeletal dysplasia, global developmental delay, multiple congenital anomalies; bilateral hip/elbow dislocations; right inguinal hernia (surgically corrected); failure to thrive; short stature" "" "" "" "" "" "" "" "JDSCD" "skeletal dysplasia, global developmental delay, congenital anomalies" "" "0000351240" "05517" "00465798" "00006" "Familial, autosomal recessive" "" "see paper; ..., bone dysplasia, dislocated joints, craniofacial dysmorphism, disproportionate short stature; no heart phenotype" "" "" "" "" "" "" "" "JDSCD" "skeletal dysplasia" "" "0000351242" "00198" "00465800" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., blue sclerae; bilateral radio-ulnar synostosis, severe osteopenia, increased gap between first/second toes, bilateral club feet, atrial/ventricular septal defects; bilateral glaucoma, hypertelorism, upturned nose, anteverted nares, small chest, diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas" "" "" "" "" "" "" "" "JDSCD" "" "" "0000351243" "05517" "00465801" "00006" "Familial, autosomal recessive" "" "see paper; ..., boy 16wg-stillborn; girl 9m-deceased" "" "" "" "" "" "" "" "JDSCD" "skeletal dysplasia" "" "0000351245" "05517" "00465803" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., osteoporosis, hypotonia, joint laxity, fractures, scoliosis, biscuspid aortic valve, myopia,hip dysplasia" "" "" "" "" "" "" "" "PDMCS" "" "" "0000351246" "00198" "00465804" "00006" "Unknown" "04y" "see paper; ..., dysmorphic features (anteverted nares, small upturned nose, hypertelorism, slight frontal bossing), short proximal bones (femur, humerus) hypermobile joints, downslanting palpebral fissures, congenital sensorineural deafness, ventricular septal defect, pulmonary stenosis (surgically corrected)" "" "" "" "" "" "" "" "PDMCS" "" "" "0000351247" "00198" "00465805" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., severe joint malalignment elbows, hips, knees and feet, hypermobility, severe kyphoscoliosis, osteoporosis with multiple fractures in childhood, congenital diaphragmatic hernia, minor dental anomalies, digital malformations, characteristic facial features" "" "" "" "" "" "" "" "PDMCS" "" "" "0000351248" "00198" "00465806" "00006" "Familial, autosomal recessive" "00y02m15d" "see paper; ..., 2.5m-deceased" "" "" "" "" "" "" "" "PDMCS" "" "" "0000351249" "00198" "00465807" "00006" "Familial, autosomal recessive" "18y" "see paper; ..." "" "" "" "" "" "" "" "PDMCS" "" "" "0000351250" "00198" "00465808" "00006" "Familial, autosomal recessive" "" "see paper; ..., short stature; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351251" "00198" "00465809" "00006" "Familial, autosomal recessive" "" "see paper; ..., no short stature; no craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351252" "00198" "00465810" "00006" "Familial, autosomal recessive" "" "see paper; ..., no short stature; no craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351253" "00198" "00465811" "00006" "Familial, autosomal recessive" "" "see paper; ..., craniosynostosis; midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351254" "00198" "00465812" "00006" "Familial, autosomal recessive" "" "see paper; ..., craniosynostosis; no midface hypoplasia; no kyphoscoliosis; radio ulnar synostosis; no dislocated joints; multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351255" "00198" "00465813" "00006" "Familial, autosomal recessive" "" "see paper; ..., midface hypoplasia; radio ulnar synostosis; no multiple fractures; joints contractures; no femoral bowing; long fingers; foot deformity; no cardiovascular abnormalities" "" "" "" "" "" "" "" "JDSCD" "Antley-Bixler syndrome" "" "0000351266" "00198" "00465819" "00006" "Familial, autosomal recessive" "" "see paper; ..., Spondyloepimetaphyseal dysplasia, cutis laxa, osteoporosis, fracture, multiple bony chondromas and short stature" "" "" "" "" "" "" "" "JDSCD" "joint laxity" "" "0000351301" "00198" "00465852" "00006" "Familial, autosomal recessive" "" "see paper; ..., intrauterine growth retadation; 4y-short stature (2 SD); normal bone age; joint dislocations genu recurvatum; hands normal; radiocubital synostosis, mild platyspondyly with anterior beaking, swedish key appearance, small epiphyses, club feet; ; microstomia, thin lips, blue sclerae; intellectual disability" "" "" "" "" "" "" "" "" "chondrodysplasia, multiple dislocations" "" "0000351302" "00198" "00465853" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intrauterine growth retadation; 23m-short stature (-1,5 SD); normal bone age; joint dislocations hips; hands long, tapering fingers; radiocubital synostosis, platyspondyly, endplate irregularities, lumbar scoliosis, swedish key appearance, bowing of long bones, osteopenia; bicuspid aortic valve, elastic skin, amelogenesis imperfecta; flat, triangular face, blue sclerae, downslanting palpebral fissures, microstomia, high palate, thin lips; intellectual disability" "" "" "" "" "" "" "" "" "chondrodysplasia, multiple dislocations" "" "0000351303" "00198" "00465854" "00006" "Familial, autosomal recessive" "" "see paper; ..., no intrauterine growth retadation; 12y-short stature (-7 SD); ; joint dislocations elbows, hips, knees; hands long, tapering fingers; limited movement of elbows, scoliosis, osteopenia; growth hormone deficiency; broad forehead, round face, blue sclerae; no intellectual disability" "" "" "" "" "" "" "" "" "Larsen syndrome" "" "0000351310" "00198" "00465861" "00006" "Familial, autosomal recessive" "35y" "connective tissue impairments, joint hypermobility with dislocations, cardiac defects (mitral valve issues), bone fragility" "" "" "" "" "" "" "" "JDSCD" "joint hypermobility" "" "0000353846" "00198" "00468693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "abnormality of the skeletal system" "" "0000353847" "00198" "00468694" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "abnormality of the skeletal system" "" "0000367906" "00239" "00485184" "00006" "Familial, autosomal recessive" "00y07m" "see paper; ..., joint dislocation, obvious flexion contractures elbow, arachnodactyly with slightly adducted thumbs, cranial dysplasia, foot abnormalities, aortic root dilation" "00y02m" "" "" "" "" "" "" "JDSCD" "Marfan syndrome" "" "0000367910" "00198" "00485188" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., short stature (SD-6.0); blue sclera, bifid uvula, low-set ears; pectus carinatum, limited elbow extension, long and spatulate shaped fingers, genu valgum, hallux valgus, pes planus, pes equinovarus; short and broad ilia, short and wide femoral necks, radio-ulnar synostosis; aortic root dilatation; kyphosis/scoliosis; no joint dislocation; splenomegaly; absence premolar teeth" "" "" "" "" "" "" "" "JDSCD" "" "" "0000367911" "00198" "00485189" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., short stature (SD-4.1); down-slanting palpebral fissures, mild eversion of lower eyelids, blue sclera, microstomia, low-set and posteriorly rotated dysplastic ears; genu recurvatums, pes planus, hallux valgus, pes equinovaru; osteopenia, radial bowing, radial head dislocation, fusion lunate/triquetrum bones, mitral insufficiency; kyphosis/scoliosis; joint dislocation" "" "" "" "" "" "" "" "JDSCD" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016219" "00016301" "1" "00006" "00006" "2014-03-03 23:43:43" "" "" "SEQ" "DNA" "" "" "0000236474" "00235371" "1" "02284" "02284" "2019-05-24 10:50:06" "" "" "SEQ-NG-IT" "DNA" "Blood" "Whole exome sequencing" "0000291629" "00290461" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000419654" "00418359" "1" "00006" "00006" "2022-09-28 19:38:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467448" "00465797" "1" "00006" "00006" "2025-06-05 16:37:35" "" "" "SEQ" "DNA" "" "" "0000467449" "00465798" "1" "00006" "00006" "2025-06-05 16:45:22" "" "" "SEQ" "DNA" "" "" "0000467451" "00465800" "1" "00006" "00006" "2025-06-05 16:53:14" "" "" "SEQ" "DNA" "" "" "0000467452" "00465801" "1" "00006" "00006" "2025-06-05 17:05:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000467454" "00465803" "1" "00006" "00006" "2025-06-05 17:37:18" "" "" "SEQ-NG" "DNA" "" "WES" "0000467455" "00465804" "1" "00006" "00006" "2025-06-05 18:31:33" "" "" "SEQ-NG" "DNA" "" "WES" "0000467456" "00465805" "1" "00006" "00006" "2025-06-05 18:51:30" "" "" "SEQ-NG" "DNA" "" "WES" "0000467457" "00465806" "1" "00006" "00006" "2025-06-05 18:58:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000467458" "00465807" "1" "00006" "00006" "2025-06-05 19:01:30" "" "" "SEQ-NG" "DNA" "" "WES" "0000467459" "00465808" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES/WGS" "0000467460" "00465809" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000467461" "00465810" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000467462" "00465811" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ" "DNA" "" "" "0000467463" "00465812" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000467464" "00465813" "1" "00006" "00006" "2025-06-05 19:27:43" "" "" "SEQ" "DNA" "" "" "0000467470" "00465819" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000467503" "00465852" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467504" "00465853" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467505" "00465854" "1" "00006" "00006" "2025-06-07 14:19:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467512" "00465861" "1" "00006" "00006" "2025-06-08 11:18:56" "" "" "SEQ-NG" "DNA" "" "" "0000470361" "00468693" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470362" "00468694" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486841" "00485184" "1" "00006" "00006" "2026-09-25 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000486845" "00485188" "1" "00006" "00006" "2026-09-25 15:59:36" "" "" "SEQ" "DNA" "" "WES" "0000486846" "00485189" "1" "00006" "00006" "2026-09-25 16:07:26" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000016219" "B3GAT3" "0000467448" "B3GAT3" "0000467449" "B3GAT3" "0000467451" "B3GAT3" "0000467462" "B3GAT3" "0000467464" "B3GAT3" "0000486846" "B3GAT3" ## 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 = 105 "{{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}}" "0000035943" "3" "95" "11" "62384057" "62384057" "subst" "1.21878E-5" "00006" "B3GAT3_000001" "g.62384057C>T" "" "{PMID:Baasanjav 2011:21763480}, {OMIM606374:0001}" "" "" "not in 1144 control chromosomes" "Germline" "yes" "" "0" "" "" "g.62616585C>T" "" "pathogenic" "" "0000251492" "0" "10" "11" "62383716" "62383716" "subst" "0" "02326" "B3GAT3_000015" "g.62383716A>C" "" "" "" "B3GAT3(NM_001288723.2):c.910-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616244A>C" "" "benign" "" "0000251493" "0" "10" "11" "62383730" "62383730" "del" "0" "02326" "B3GAT3_000006" "g.62383730del" "" "" "" "B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616258del" "" "benign" "" "0000260316" "0" "10" "11" "62384066" "62384066" "subst" "0.00127137" "02329" "B3GAT3_000007" "g.62384066G>T" "" "" "" "B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn)), B3GAT3(NM_012200.4):c.821C>A (p.T274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616594G>T" "" "benign" "" "0000260317" "0" "30" "11" "62383251" "62383251" "subst" "0.00142787" "02329" "B3GAT3_000002" "g.62383251C>T" "" "" "" "B3GAT3(NM_012200.4):c.930G>A (p.R310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62615779C>T" "" "likely benign" "" "0000261363" "0" "10" "11" "62383715" "62383715" "del" "0" "02326" "B3GAT3_000004" "g.62383715del" "" "" "" "B3GAT3(NM_001288723.1):c.910-3delC, B3GAT3(NM_001288723.2):c.910-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616243del" "" "benign" "" "0000263480" "0" "30" "11" "62383715" "62383715" "subst" "0" "01943" "B3GAT3_000005" "g.62383715G>A" "" "" "" "B3GAT3(NM_001288723.1):c.910-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616243G>A" "" "likely benign" "" "0000263481" "0" "10" "11" "62383715" "62383715" "del" "0" "01943" "B3GAT3_000004" "g.62383715del" "" "" "" "B3GAT3(NM_001288723.1):c.910-3delC, B3GAT3(NM_001288723.2):c.910-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616243del" "" "benign" "" "0000263482" "0" "10" "11" "62383709" "62383710" "del" "0" "01943" "B3GAT3_000003" "g.62383709_62383710del" "" "" "" "B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62616237_62616238del" "" "benign" "" "0000294884" "0" "50" "11" "62381265" "62381265" "subst" "0.000265138" "02330" "ROM1_000008" "g.62381265G>A" "" "" "" "ROM1(NM_000327.4):c.512G>A (p.R171H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613793G>A" "" "VUS" "" "0000294885" "0" "10" "11" "62381324" "62381324" "subst" "8.34766E-5" "02330" "ROM1_000009" "g.62381324G>A" "" "" "" "ROM1(NM_000327.4):c.571G>A (p.G191S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613852G>A" "" "benign" "" "0000294886" "0" "30" "11" "62381825" "62381825" "subst" "0.00345175" "02330" "ROM1_000010" "g.62381825G>A" "" "" "" "ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62614353G>A" "" "likely benign" "" "0000294887" "0" "10" "11" "62380834" "62380834" "subst" "0.00124262" "02330" "ROM1_000003" "g.62380834G>T" "" "" "" "ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613362G>T" "" "benign" "" "0000297709" "0" "10" "11" "62381106" "62381106" "subst" "0.985093" "02325" "ROM1_000007" "g.62381106G>C" "" "" "" "ROM1(NM_000327.4):c.353G>C (p.G118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613634G>C" "" "benign" "" "0000307196" "0" "30" "11" "62380931" "62380931" "subst" "0.000210618" "01943" "ROM1_000004" "g.62380931C>A" "" "" "" "ROM1(NM_000327.3):c.178C>A (p.P60T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613459C>A" "" "likely benign" "" "0000307197" "0" "30" "11" "62381076" "62381076" "subst" "0.000259284" "01943" "ROM1_000005" "g.62381076C>T" "" "" "" "ROM1(NM_000327.3):c.323C>T (p.T108M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613604C>T" "" "likely benign" "" "0000307198" "0" "90" "11" "62381092" "62381092" "del" "0" "01943" "ROM1_000006" "g.62381092del" "" "" "" "ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62613620del" "" "pathogenic" "" "0000322265" "0" "30" "11" "62381825" "62381825" "subst" "0.00345175" "01804" "ROM1_000010" "g.62381825G>A" "" "" "" "ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62614353G>A" "" "likely benign" "" "0000322266" "0" "50" "11" "62382261" "62382261" "subst" "7.71611E-5" "01804" "ROM1_000011" "g.62382261G>A" "" "" "" "ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62614789G>A" "" "VUS" "" "0000322267" "0" "50" "11" "62393883" "62393883" "subst" "0.00256225" "01804" "GANAB_000002" "g.62393883G>A" "" "" "" "GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62626411G>A" "" "VUS" "" "0000345981" "0" "50" "11" "62382196" "62382196" "subst" "0.00015837" "02327" "ROM1_000012" "g.62382196G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62614724G>A" "" "VUS" "" "0000480198" "11" "90" "11" "62384596" "62384596" "subst" "1.21857E-5" "02284" "B3GAT3_000009" "g.62384596G>A" "" "{PMID:Ritelli 2019:31438591}" "" "" "" "Germline" "" "rs765246909" "0" "" "" "g.62617124G>A" "" "likely pathogenic (recessive)" "" "0000480199" "21" "90" "11" "62383998" "62383998" "subst" "1.21976E-5" "02284" "B3GAT3_000008" "g.62383998G>A" "" "{PMID:Ritelli 2019:31438591}" "" "" "" "Germline" "" "rs759636773" "0" "" "" "g.62616526G>A" "" "likely pathogenic (recessive)" "" "0000544753" "0" "50" "11" "62380851" "62380851" "subst" "1.2338E-5" "02327" "B3GAT3_000010" "g.62380851G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62613379G>A" "" "VUS" "" "0000544754" "0" "50" "11" "62381092" "62381092" "dup" "0" "02330" "B3GAT3_000011" "g.62381092dup" "" "" "" "ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62613620dup" "" "VUS" "" "0000544755" "0" "90" "11" "62381092" "62381092" "dup" "0" "01943" "B3GAT3_000011" "g.62381092dup" "" "" "" "ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62613620dup" "" "pathogenic" "" "0000544757" "0" "30" "11" "62381934" "62381934" "subst" "0" "01943" "B3GAT3_000013" "g.62381934A>T" "" "" "" "ROM1(NM_000327.3):c.795A>T (p.A265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62614462A>T" "" "likely benign" "" "0000544759" "0" "10" "11" "62383714" "62383715" "ins" "0" "01943" "B3GAT3_000014" "g.62383714_62383715insC" "" "" "" "B3GAT3(NM_001288723.1):c.910-3_910-2insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62616242_62616243insC" "" "benign" "" "0000544763" "0" "30" "11" "62384066" "62384066" "subst" "0.00127137" "01804" "B3GAT3_000007" "g.62384066G>T" "" "" "" "B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn)), B3GAT3(NM_012200.4):c.821C>A (p.T274N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62616594G>T" "" "likely benign" "" "0000544765" "0" "50" "11" "62387966" "62387966" "subst" "0" "01804" "B3GAT3_000018" "g.62387966T>C" "" "" "" "B3GAT3(NM_012200.3):c.257+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620494T>C" "" "VUS" "" "0000544766" "0" "30" "11" "62388013" "62388013" "subst" "0.000238779" "02329" "B3GAT3_000019" "g.62388013G>A" "" "" "" "B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620541G>A" "" "likely benign" "" "0000544768" "0" "30" "11" "62388059" "62388059" "subst" "0.000136713" "01804" "B3GAT3_000021" "g.62388059G>A" "" "" "" "B3GAT3(NM_012200.3):c.167C>T (p.(Ala56Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620587G>A" "" "likely benign" "" "0000544769" "0" "90" "11" "62389419" "62389419" "subst" "2.07424E-5" "02329" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62621947T>A" "" "pathogenic" "" "0000544771" "0" "30" "11" "62394565" "62394565" "subst" "0.000455159" "01943" "B3GAT3_000023" "g.62394565G>A" "" "" "" "GANAB(NM_001329224.1):c.1554C>T (p.D518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62627093G>A" "" "likely benign" "" "0000613485" "0" "10" "11" "62382123" "62382123" "del" "0.00163241" "02330" "B3GAT3_000024" "g.62382123del" "" "" "" "ROM1(NM_000327.4):c.868delC (p.Q290Kfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62614651del" "" "benign" "" "0000613486" "0" "50" "11" "62383252" "62383252" "subst" "4.0802E-6" "01804" "B3GAT3_000025" "g.62383252C>G" "" "" "" "B3GAT3(NM_012200.3):c.929G>C (p.(Arg310Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62615780C>G" "" "VUS" "" "0000613487" "0" "30" "11" "62383709" "62383710" "del" "0" "02325" "B3GAT3_000003" "g.62383709_62383710del" "" "" "" "B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62616237_62616238del" "" "likely benign" "" "0000613489" "0" "70" "11" "62388051" "62388051" "subst" "1.24341E-5" "01943" "B3GAT3_000026" "g.62388051G>A" "" "" "" "B3GAT3(NM_001288723.1):c.175C>T (p.R59*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620579G>A" "" "likely pathogenic" "" "0000613490" "0" "70" "11" "62389419" "62389419" "subst" "2.07424E-5" "02325" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62621947T>A" "" "likely pathogenic" "" "0000622656" "0" "50" "11" "62381092" "62381092" "del" "0" "02330" "ROM1_000006" "g.62381092del" "" "" "" "ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62613620del" "" "VUS" "" "0000622657" "0" "30" "11" "62383730" "62383730" "del" "0" "02325" "B3GAT3_000006" "g.62383730del" "" "" "" "B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62616258del" "" "likely benign" "" "0000622658" "0" "30" "11" "62388013" "62388013" "subst" "0.000238779" "01943" "B3GAT3_000019" "g.62388013G>A" "" "" "" "B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620541G>A" "" "likely benign" "" "0000648318" "1" "70" "11" "62384057" "62384057" "subst" "1.21878E-5" "03575" "B3GAT3_000001" "g.62384057C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387906937}" "Germline" "" "rs387906937" "0" "" "" "g.62616585C>T" "" "likely pathogenic" "" "0000656826" "0" "50" "11" "62384647" "62384647" "subst" "6.93481E-5" "02325" "B3GAT3_000027" "g.62384647G>A" "" "" "" "B3GAT3(NM_001288723.2):c.430C>T (p.R144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62617175G>A" "" "VUS" "" "0000656827" "0" "50" "11" "62394062" "62394062" "subst" "0" "02327" "B3GAT3_000028" "g.62394062A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62626590A>G" "" "VUS" "" "0000679238" "0" "10" "11" "62381106" "62381106" "subst" "0.985093" "02327" "ROM1_000007" "g.62381106G>C" "" "" "" "ROM1(NM_000327.4):c.353G>C (p.G118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723530" "0" "30" "11" "62381104" "62381104" "subst" "0" "01943" "B3GAT3_000029" "g.62381104C>T" "" "" "" "ROM1(NM_000327.3):c.351C>T (p.V117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723531" "0" "30" "11" "62381150" "62381150" "subst" "0.000993372" "01943" "B3GAT3_000030" "g.62381150C>T" "" "" "" "ROM1(NM_000327.3):c.397C>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723532" "0" "30" "11" "62383675" "62383675" "subst" "0" "01943" "B3GAT3_000031" "g.62383675T>C" "" "" "" "B3GAT3(NM_012200.3):c.909+303A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723533" "0" "10" "11" "62383715" "62383715" "subst" "0" "02329" "B3GAT3_000032" "g.62383715G>C" "" "" "" "B3GAT3(NM_001288723.2):c.910-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723534" "0" "30" "11" "62383978" "62383978" "subst" "0" "01943" "B3GAT3_000033" "g.62383978C>T" "" "" "" "B3GAT3(NM_001288723.1):c.909G>A (p.R303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723535" "0" "50" "11" "62388122" "62388122" "subst" "2.88846E-5" "02325" "B3GAT3_000034" "g.62388122G>A" "" "" "" "B3GAT3(NM_012200.4):c.104C>T (p.P35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723536" "0" "70" "11" "62389419" "62389419" "subst" "2.07424E-5" "01943" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723537" "0" "50" "11" "62393629" "62393629" "subst" "0" "02325" "B3GAT3_000035" "g.62393629T>C" "" "" "" "GANAB(NM_198335.4):c.2699A>G (p.D900G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853058" "0" "30" "11" "62380834" "62380834" "subst" "0.00124262" "01943" "ROM1_000003" "g.62380834G>T" "" "" "" "ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853059" "0" "50" "11" "62382261" "62382261" "subst" "7.71611E-5" "01943" "ROM1_000011" "g.62382261G>A" "" "" "" "ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853060" "0" "30" "11" "62383981" "62383981" "subst" "0.000113904" "02329" "B3GAT3_000036" "g.62383981A>C" "" "" "" "B3GAT3(NM_012200.4):c.906T>G (p.T302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862609" "0" "10" "11" "62393883" "62393883" "subst" "0.00256225" "02326" "GANAB_000002" "g.62393883G>A" "" "" "" "GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000879756" "0" "70" "11" "62384577" "62384577" "subst" "0" "00006" "B3GAT3_000037" "g.62384577C>G" "" "{PMID:Scott 2017:27550220}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000890012" "0" "30" "11" "62382261" "62382261" "subst" "7.71611E-5" "02327" "ROM1_000011" "g.62382261G>A" "" "" "" "ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890013" "0" "30" "11" "62388118" "62388118" "subst" "0.00161664" "02329" "B3GAT3_000038" "g.62388118G>A" "" "" "" "B3GAT3(NM_012200.4):c.108C>T (p.P36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925451" "0" "50" "11" "62388114" "62388114" "subst" "0" "02327" "B3GAT3_000039" "g.62388114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925452" "0" "30" "11" "62394376" "62394376" "subst" "6.0987E-5" "02326" "B3GAT3_000040" "g.62394376G>T" "" "" "" "GANAB(NM_198335.4):c.2419C>A (p.H807N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929931" "0" "30" "11" "62393590" "62393590" "subst" "3.65512E-5" "02326" "B3GAT3_000041" "g.62393590C>T" "" "" "" "GANAB(NM_198335.4):c.2738G>A (p.R913Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949733" "0" "50" "11" "62383709" "62383710" "del" "0" "01804" "B3GAT3_000003" "g.62383709_62383710del" "" "" "" "B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949734" "0" "90" "11" "62389419" "62389419" "subst" "2.07424E-5" "01804" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979695" "0" "50" "11" "62382181" "62382181" "subst" "4.87282E-5" "01804" "B3GAT3_000043" "g.62382181A>C" "" "" "" "ROM1(NM_000327.4):c.926A>C (p.(Tyr309Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979696" "0" "30" "11" "62383730" "62383730" "del" "0" "01804" "B3GAT3_000006" "g.62383730del" "" "" "" "B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999201" "0" "50" "11" "62384144" "62384144" "subst" "3.24997E-5" "01804" "B3GAT3_000044" "g.62384144G>C" "" "" "" "B3GAT3(NM_012200.3):c.743C>G (p.(Pro248Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014851" "0" "30" "11" "62384178" "62384178" "subst" "0.00124558" "02329" "B3GAT3_000045" "g.62384178C>T" "" "" "" "B3GAT3(NM_012200.4):c.709G>A (p.(Val237Met), p.V237M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038556" "0" "50" "11" "62380817" "62380817" "subst" "1.64247E-5" "01804" "ROM1_000043" "g.62380817T>G" "" "" "" "ROM1(NM_000327.4):c.64T>G (p.(Trp22Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038557" "0" "50" "11" "62381768" "62381768" "subst" "0.000121982" "01804" "ROM1_000033" "g.62381768A>T" "" "" "" "ROM1(NM_000327.4):c.629A>T (p.(Asp210Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038558" "0" "50" "11" "62383201" "62383201" "subst" "3.67188E-5" "01804" "B3GAT3_000046" "g.62383201C>T" "" "" "" "B3GAT3(NM_012200.4):c.980G>A (p.(Arg327Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038559" "0" "30" "11" "62384178" "62384178" "subst" "0.00124558" "01804" "B3GAT3_000045" "g.62384178C>T" "" "" "" "B3GAT3(NM_012200.4):c.709G>A (p.(Val237Met), p.V237M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038560" "0" "50" "11" "62389362" "62389362" "subst" "1.24216E-5" "01804" "B3GAT3_000047" "g.62389362G>A" "" "" "" "B3GAT3(NM_012200.4):c.58C>T (p.(Leu20Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045250" "3" "90" "11" "62384057" "62384057" "subst" "1.21878E-5" "00006" "B3GAT3_000001" "g.62384057C>T" "" "{PMID:von Oettingen 2014:24668659}" "" "" "" "Germline" "" "" "0" "" "" "g.62616585C>T" "" "pathogenic (recessive)" "" "0001045251" "3" "90" "11" "62384658" "62384658" "subst" "0" "00006" "B3GAT3_000048" "g.62384658G>A" "" "{PMID:Budde 2015:25893793}" "" "" "not in 350 control chromosomes" "Germline" "yes" "" "0" "" "" "g.62617186G>A" "" "pathogenic (recessive)" "" "0001045253" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Jones 2015:26086840}" "" "" "" "Germline" "" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045255" "21" "90" "11" "62384214" "62384214" "subst" "1.22494E-5" "00006" "B3GAT3_000050" "g.62384214G>A" "" "{PMID:Byrne 2020:31988067}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62616742G>A" "" "pathogenic (recessive)" "" "0001045256" "11" "90" "11" "62384572" "62384572" "subst" "1.21837E-5" "00006" "B3GAT3_000051" "g.62384572G>A" "" "{PMID:Byrne 2020:31988067}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62617100G>A" "" "pathogenic (recessive)" "" "0001045263" "11" "90" "11" "62389419" "62389419" "subst" "0" "00006" "B3GAT3_000052" "g.62389419T>C" "" "{PMID:Job 2016:27871226}" "" "" "variant functionally characterised" "Germline" "" "" "0" "" "" "g.62621947T>C" "" "pathogenic (recessive)" "" "0001045264" "21" "90" "11" "62384216" "62384216" "subst" "8.16153E-6" "00006" "B3GAT3_000053" "g.62384216A>T" "" "{PMID:Job 2016:27871226}" "" "" "variant functionally characterised" "Germline" "" "" "0" "" "" "g.62616744A>T" "" "pathogenic (recessive)" "" "0001045265" "20" "90" "11" "0" "0" "" "" "00006" "B3GAT3_000000" "g.?" "" "{PMID:Bloor 2017:29318063}" "" "888+262T>G" "no 2nd variant reported; variant not correctly described (888+262T>G in invariant “GT” splice donor site)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001045266" "3" "70" "11" "62389361" "62389363" "del" "0" "00006" "B3GAT3_000054" "g.62389361_62389363del" "" "{PMID:Bolund 2021:34537402}" "" "61_63delCTC" "ACMG PM2, PM4, PP4" "Germline" "" "" "0" "" "" "g.62621889_62621891del" "" "VUS" "ACMG" "0001045267" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Colman 2019:31196143}" "" "" "" "Germline" "" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045268" "3" "90" "11" "62384661" "62384661" "subst" "4.0873E-6" "00006" "B3GAT3_000055" "g.62384661G>A" "" "{PMID:Colman 2019:31196143}" "" "" "" "Germline" "" "" "0" "" "" "g.62617189G>A" "" "pathogenic (recessive)" "" "0001045269" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045270" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045271" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045272" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045273" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045274" "3" "90" "11" "62384220" "62384220" "subst" "4.08133E-6" "00006" "B3GAT3_000049" "g.62384220C>T" "" "{PMID:Yauy 2018:28771243}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62616748C>T" "" "pathogenic (recessive)" "" "0001045282" "3" "90" "11" "62387981" "62387981" "subst" "1.22968E-5" "00006" "B3GAT3_000058" "g.62387981G>A" "" "{PMID:Alazami 2016:27023906}" "" "" "" "Germline" "" "" "0" "" "" "g.62620509G>A" "" "pathogenic (recessive)" "" "0001045315" "3" "90" "11" "62384661" "62384661" "subst" "4.0873E-6" "00006" "B3GAT3_000055" "g.62384661G>A" "" "{PMID:Ranza 2017:28229453}" "" "416T>C (Met139Thr)" "" "Germline" "" "" "0" "" "" "g.62617189G>A" "" "pathogenic (recessive)" "" "0001045316" "3" "90" "11" "62384500" "62384500" "subst" "0" "00006" "B3GAT3_000057" "g.62384500C>A" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.62617028C>A" "" "pathogenic (recessive)" "" "0001045317" "3" "90" "11" "62389355" "62389355" "subst" "0" "00006" "B3GAT3_000059" "g.62389355T>C" "" "{PMID:Ranza 2017:28229453}" "" "" "" "Germline" "" "" "0" "" "" "g.62621883T>C" "" "pathogenic (recessive)" "" "0001045327" "3" "70" "11" "62384611" "62384611" "subst" "2.43786E-5" "00006" "B3GAT3_000056" "g.62384611G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.62617139G>A" "" "VUS" "" "0001058483" "0" "90" "11" "62384487" "62384487" "subst" "0" "00006" "B3GAT3_000061" "g.62384487T>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.62617015T>G" "" "pathogenic" "" "0001058484" "0" "90" "11" "62383181" "62383181" "subst" "4.0866E-6" "00006" "B3GAT3_000060" "g.62383181C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.62615709C>T" "" "pathogenic" "" "0001065488" "0" "50" "11" "62381092" "62381092" "dup" "0" "02325" "B3GAT3_000011" "g.62381092dup" "" "" "" "ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065489" "0" "50" "11" "62394062" "62394062" "subst" "0" "02325" "B3GAT3_000028" "g.62394062A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001089977" "11" "50" "11" "62384135" "62384135" "subst" "4.06157E-6" "00006" "B3GAT3_000062" "g.62384135A>G" "" "{PMID:Li 2022:35151321}" "" "" "" "Germline" "" "" "0" "" "" "g.62616663A>G" "" "VUS" "" "0001089978" "21" "70" "11" "62389373" "62389373" "subst" "0" "00006" "B3GAT3_000063" "g.62389373G>T" "" "{PMID:Li 2022:35151321}" "" "" "" "Germline" "" "" "0" "" "" "g.62621901G>T" "" "likely pathogenic (recessive)" "" "0001089985" "3" "90" "11" "62384661" "62384661" "subst" "4.0873E-6" "00006" "B3GAT3_000055" "g.62384661G>A" "" "{PMID:Dasar 2024:39359951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62617189G>A" "" "pathogenic (recessive)" "" "0001089986" "3" "90" "11" "62384661" "62384661" "subst" "4.0873E-6" "00006" "B3GAT3_000055" "g.62384661G>A" "" "{PMID:Dasar 2024:39359951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62617189G>A" "" "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 B3GAT3 ## Count = 105 "{{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}}" "0000035943" "00003212" "95" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "4" "0000251492" "00003212" "10" "909" "262" "909" "262" "c.909+262T>G" "r.(=)" "p.(=)" "" "0000251493" "00003212" "10" "909" "262" "909" "262" "c.909+262del" "r.(=)" "p.(=)" "" "0000260316" "00003212" "10" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Thr274Asn)" "" "0000260317" "00003212" "30" "930" "0" "930" "0" "c.930G>A" "r.(?)" "p.(Arg310=)" "" "0000261363" "00003212" "10" "909" "263" "909" "263" "c.909+263del" "r.(=)" "p.(=)" "" "0000263480" "00003212" "30" "909" "263" "909" "263" "c.909+263C>T" "r.(=)" "p.(=)" "" "0000263481" "00003212" "10" "909" "263" "909" "263" "c.909+263del" "r.(=)" "p.(=)" "" "0000263482" "00003212" "10" "909" "270" "909" "271" "c.909+270_909+271del" "r.(=)" "p.(=)" "" "0000294884" "00003212" "50" "2916" "0" "2916" "0" "c.*1908C>T" "r.(=)" "p.(=)" "" "0000294885" "00003212" "10" "2857" "0" "2857" "0" "c.*1849C>T" "r.(=)" "p.(=)" "" "0000294886" "00003212" "30" "2356" "0" "2356" "0" "c.*1348C>T" "r.(=)" "p.(=)" "" "0000294887" "00003212" "10" "3347" "0" "3347" "0" "c.*2339C>A" "r.(=)" "p.(=)" "" "0000297709" "00003212" "10" "3075" "0" "3075" "0" "c.*2067C>G" "r.(=)" "p.(=)" "" "0000307196" "00003212" "30" "3250" "0" "3250" "0" "c.*2242G>T" "r.(=)" "p.(=)" "" "0000307197" "00003212" "30" "3105" "0" "3105" "0" "c.*2097G>A" "r.(=)" "p.(=)" "" "0000307198" "00003212" "90" "3097" "0" "3097" "0" "c.*2089del" "r.(?)" "p.(=)" "" "0000322265" "00003212" "30" "2356" "0" "2356" "0" "c.*1348C>T" "r.(=)" "p.(=)" "" "0000322266" "00003212" "50" "1920" "0" "1920" "0" "c.*912C>T" "r.(=)" "p.(=)" "" "0000322267" "00003212" "50" "-4464" "0" "-4464" "0" "c.-4464C>T" "r.(?)" "p.(=)" "" "0000345981" "00003212" "50" "1985" "0" "1985" "0" "c.*977C>T" "r.(=)" "p.(=)" "" "0000480198" "00003212" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "3" "0000480199" "00003212" "90" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Trp)" "4" "0000544753" "00003212" "50" "3330" "0" "3330" "0" "c.*2322C>T" "r.(=)" "p.(=)" "" "0000544754" "00003212" "50" "3097" "0" "3097" "0" "c.*2089dup" "r.(?)" "p.(=)" "" "0000544755" "00003212" "90" "3097" "0" "3097" "0" "c.*2089dup" "r.(?)" "p.(=)" "" "0000544757" "00003212" "30" "2247" "0" "2247" "0" "c.*1239T>A" "r.(=)" "p.(=)" "" "0000544759" "00003212" "10" "909" "263" "909" "264" "c.909+263_909+264insG" "r.(=)" "p.(=)" "" "0000544763" "00003212" "30" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.(Thr274Asn)" "" "0000544765" "00003212" "50" "257" "3" "257" "3" "c.257+3A>G" "r.spl?" "p.?" "" "0000544766" "00003212" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Pro71=)" "" "0000544768" "00003212" "30" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000544769" "00003212" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000544771" "00003212" "30" "-5146" "0" "-5146" "0" "c.-5146C>T" "r.(?)" "p.(=)" "" "0000613485" "00003212" "10" "2058" "0" "2058" "0" "c.*1050del" "r.(?)" "p.(=)" "" "0000613486" "00003212" "50" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000613487" "00003212" "30" "909" "270" "909" "271" "c.909+270_909+271del" "r.(=)" "p.(=)" "" "0000613489" "00003212" "70" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Ter)" "" "0000613490" "00003212" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000622656" "00003212" "50" "3097" "0" "3097" "0" "c.*2089del" "r.(?)" "p.(=)" "" "0000622657" "00003212" "30" "909" "262" "909" "262" "c.909+262del" "r.(=)" "p.(=)" "" "0000622658" "00003212" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Pro71=)" "" "0000648318" "00003212" "70" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000656826" "00003212" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Arg144Trp)" "" "0000656827" "00003212" "50" "-4643" "0" "-4643" "0" "c.-4643T>C" "r.(?)" "p.(=)" "" "0000679238" "00003212" "10" "3075" "0" "3075" "0" "c.*2067C>G" "r.(=)" "p.(=)" "" "0000723530" "00003212" "30" "3077" "0" "3077" "0" "c.*2069G>A" "r.(=)" "p.(=)" "" "0000723531" "00003212" "30" "3031" "0" "3031" "0" "c.*2023G>A" "r.(=)" "p.(=)" "" "0000723532" "00003212" "30" "909" "303" "909" "303" "c.909+303A>G" "r.(=)" "p.(=)" "" "0000723533" "00003212" "10" "909" "263" "909" "263" "c.909+263C>G" "r.(=)" "p.(=)" "" "0000723534" "00003212" "30" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Arg303=)" "" "0000723535" "00003212" "50" "104" "0" "104" "0" "c.104C>T" "r.(?)" "p.(Pro35Leu)" "" "0000723536" "00003212" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000723537" "00003212" "50" "-4210" "0" "-4210" "0" "c.-4210A>G" "r.(?)" "p.(=)" "" "0000853058" "00003212" "30" "3347" "0" "3347" "0" "c.*2339C>A" "r.(=)" "p.(=)" "" "0000853059" "00003212" "50" "1920" "0" "1920" "0" "c.*912C>T" "r.(=)" "p.(=)" "" "0000853060" "00003212" "30" "906" "0" "906" "0" "c.906T>G" "r.(?)" "p.(Thr302=)" "" "0000862609" "00003212" "10" "-4464" "0" "-4464" "0" "c.-4464C>T" "r.(?)" "p.(=)" "" "0000879756" "00003212" "70" "500" "0" "500" "0" "c.500G>C" "r.(?)" "p.(Trp167Ser)" "" "0000890012" "00003212" "30" "1920" "0" "1920" "0" "c.*912C>T" "r.(=)" "p.(=)" "" "0000890013" "00003212" "30" "108" "0" "108" "0" "c.108C>T" "r.(?)" "p.(Pro36=)" "" "0000925451" "00003212" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000925452" "00003212" "30" "-4957" "0" "-4957" "0" "c.-4957C>A" "r.(?)" "p.(=)" "" "0000929931" "00003212" "30" "-4171" "0" "-4171" "0" "c.-4171G>A" "r.(?)" "p.(=)" "" "0000949733" "00003212" "50" "909" "270" "909" "271" "c.909+270_909+271del" "r.(=)" "p.(=)" "" "0000949734" "00003212" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000979695" "00003212" "50" "2000" "0" "2000" "0" "c.*992T>G" "r.(=)" "p.(=)" "" "0000979696" "00003212" "30" "909" "262" "909" "262" "c.909+262del" "r.(=)" "p.(=)" "" "0000999201" "00003212" "50" "743" "0" "743" "0" "c.743C>G" "r.(?)" "p.(Pro248Arg)" "" "0001014851" "00003212" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Val237Met)" "" "0001038556" "00003212" "50" "3364" "0" "3364" "0" "c.*2356A>C" "r.(=)" "p.(=)" "" "0001038557" "00003212" "50" "2413" "0" "2413" "0" "c.*1405T>A" "r.(=)" "p.(=)" "" "0001038558" "00003212" "50" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Arg327Gln)" "" "0001038559" "00003212" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Val237Met)" "" "0001038560" "00003212" "50" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Leu20Phe)" "" "0001045250" "00003212" "90" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0001045251" "00003212" "90" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Pro140Leu)" "" "0001045253" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045255" "00003212" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225*)" "" "0001045256" "00003212" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0001045263" "00003212" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.(Met1?)" "" "0001045264" "00003212" "90" "671" "0" "671" "0" "c.671T>A" "r.(?)" "p.(Leu224Gln)" "" "0001045265" "00003212" "90" "0" "0" "0" "0" "c.?" "r.spl" "p.?" "" "0001045266" "00003212" "70" "61" "0" "63" "0" "c.61_63del" "r.(61_63del)" "p.(Leu21del)" "" "0001045267" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045268" "00003212" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Thr139Met)" "" "0001045269" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045270" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045271" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045272" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045273" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045274" "00003212" "90" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "0001045282" "00003212" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Pro82Leu)" "" "0001045315" "00003212" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Thr139Met)" "" "0001045316" "00003212" "90" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Ala193Ser)" "" "0001045317" "00003212" "90" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Tyr22Cys)" "" "0001045327" "00003212" "70" "466" "0" "466" "0" "c.466C>T" "r.(466C>T)" "p.(Arg156Cys)" "" "0001058483" "00003212" "90" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Asn197Thr)" "" "0001058484" "00003212" "90" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "" "0001065488" "00003212" "50" "3097" "0" "3097" "0" "c.*2089dup" "r.(?)" "p.(=)" "" "0001065489" "00003212" "50" "-4643" "0" "-4643" "0" "c.-4643T>C" "r.(?)" "p.(=)" "" "0001089977" "00003212" "50" "752" "0" "752" "0" "c.752T>C" "r.(?)" "p.(Val251Ala)" "" "0001089978" "00003212" "70" "47" "0" "47" "0" "c.47C>A" "r.(?)" "p.(Ser16Ter)" "" "0001089985" "00003212" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Thr139Met)" "" "0001089986" "00003212" "90" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Thr139Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000016219" "0000035943" "0000236474" "0000480198" "0000236474" "0000480199" "0000291629" "0000648318" "0000419654" "0000879756" "0000467448" "0001045250" "0000467449" "0001045251" "0000467451" "0001045253" "0000467452" "0001045255" "0000467452" "0001045256" "0000467454" "0001045263" "0000467454" "0001045264" "0000467455" "0001045265" "0000467456" "0001045266" "0000467457" "0001045267" "0000467458" "0001045268" "0000467459" "0001045269" "0000467460" "0001045270" "0000467461" "0001045271" "0000467462" "0001045272" "0000467463" "0001045273" "0000467464" "0001045274" "0000467470" "0001045282" "0000467503" "0001045315" "0000467504" "0001045316" "0000467505" "0001045317" "0000467512" "0001045327" "0000470361" "0001058483" "0000470362" "0001058484" "0000486841" "0001089977" "0000486841" "0001089978" "0000486845" "0001089985" "0000486846" "0001089986"