### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B3GALNT2) # 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}}" "B3GALNT2" "beta-1,3-N-acetylgalactosaminyltransferase 2" "1" "q42.3" "unknown" "NG_033219.2" "UD_132319264123" "" "https://www.LOVD.nl/B3GALNT2" "" "1" "28596" "148789" "610194" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/B3GALNT2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2013-03-07 00:00:00" "00006" "2020-11-11 19:41:55" "00000" "2022-05-09 15:51:19" ## 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}}" "00025363" "B3GALNT2" "transcript variant 1" "001" "NM_152490.3" "" "NP_689703.1" "" "" "" "-229" "4519" "1503" "235667781" "235610505" "00006" "2019-01-20 12:45:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32" "03846" "MDDGA11" "dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A11 (MDDGA-11)" "AR" "615181" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05114" "MEB" "muscle-eye-brain disease (MEB)" "" "" "" "" "" "00006" "2016-01-11 01:44:42" "" "" "05117" "MDDG" "dystrophy, muscular, dystroglycanopathy (MDDG)" "" "" "" "" "" "00006" "2016-01-11 01:55:59" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "B3GALNT2" "00139" "B3GALNT2" "03846" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00057846" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "Turkish" "" "00057847" "" "" "" "2" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier parents" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "Turkish" "" "00057848" "" "" "" "1" "" "00006" "" "" "F" "" "? (unknown)" "" "0" "" "" "" "" "00057849" "" "" "" "2" "" "00006" "{PMID:Stevens 2013:23453667}" "" "F" "no" "South Africa" "" "0" "" "" "" "" "00057850" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier mother" "F" "no" "South Africa" "" "0" "" "" "" "" "00057851" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier mother" "F" "no" "United States" "" "0" "" "" "white" "" "00057852" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier mother" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "" "00057853" "" "" "" "2" "" "00006" "{PMID:Stevens 2013:23453667}" "" "M" "no" "South Africa" "" "0" "" "" "" "" "00057854" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier father" "M" "no" "South Africa" "" "0" "" "" "" "" "00057855" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "" "F" "?" "Saudi Arabia" "" "0" "" "" "" "" "00057856" "" "" "" "2" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier parents" "?" "?" "Saudi Arabia" "" "0" "" "" "" "" "00057857" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "" "F" "no" "United States" "" "0" "" "" "white" "" "00057858" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier father" "M" "no" "United States" "" "0" "" "" "white" "" "00057859" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "" "00057860" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier father" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "" "00057861" "" "" "" "1" "" "00006" "{PMID:Stevens 2013:23453667}" "" "M" "?" "United States" "" "0" "" "" "Hispanic" "" "00057862" "" "" "" "2" "" "00006" "{PMID:Stevens 2013:23453667}" "unaffected carrier parents" "?" "?" "United States" "" "0" "" "" "Hispanic" "" "00289751" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289752" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289753" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289754" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289755" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387732" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M224" "00387898" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9100007" "00390615" "" "" "" "1" "" "00006" "{PMID:Song 2021:33200426}" "" "M" "" "China" "" "0" "" "" "" "Pat132" "00390616" "" "" "" "1" "" "00006" "{PMID:Song 2021:33200426}" "" "M" "" "China" "" "0" "" "" "" "Pat133" "00390617" "" "" "" "1" "" "00006" "{PMID:Song 2021:33200426}" "" "M" "" "China" "" "0" "" "" "" "Pat134" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00057846" "05114" "00057847" "00000" "00057848" "05121" "00057849" "00361" "00057850" "00000" "00057851" "00000" "00057852" "00000" "00057853" "00361" "00057854" "00000" "00057855" "05114" "00057856" "00000" "00057857" "00361" "00057858" "00000" "00057859" "05114" "00057860" "00000" "00057861" "00361" "00057862" "00000" "00289751" "00198" "00289752" "00198" "00289753" "00198" "00289754" "00198" "00289755" "00198" "00387732" "00139" "00387898" "00139" "00390615" "05117" "00390616" "05117" "00390617" "05117" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00361, 03846, 05114, 05117, 05121 ## Count = 22 "{{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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000044497" "05114" "00057846" "00006" "Isolated (sporadic)" "" "delayed gross motor skills, unable to walk, communication limited, vision intact; brain involvement not detected in prenatal scans; severe hyptonia; CPK: 894 U/L" "" "" "" "" "" "" "" "" "" "" "" "0000044498" "00000" "00057847" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044499" "05121" "00057848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044500" "00361" "00057849" "00006" "Isolated (sporadic)" "" "terminated pregnancy, fetus severe hydrocephalus, ocular malformations (fetal ultrasound)" "" "" "" "" "" "" "" "" "" "" "" "0000044501" "00000" "00057850" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044502" "00000" "00057851" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044503" "00000" "00057852" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044504" "00361" "00057853" "00006" "Isolated (sporadic)" "" "brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 6964 U/L" "" "" "" "" "" "" "" "" "" "" "" "0000044505" "00000" "00057854" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044506" "05114" "00057855" "00006" "Isolated (sporadic)" "" "less severe, clinical/radiological features dystroglycanopathy, brain MRI abnormal white matter signal T2-weighted, severe hyptonia, did not attain any motor milestones; CPK: 1740 U/L" "" "" "" "" "" "" "" "" "" "" "" "0000044507" "00000" "00057856" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044508" "00361" "00057857" "00006" "Isolated (sporadic)" "" "brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 21000 U/L" "" "" "" "" "" "" "" "" "" "" "" "0000044509" "00000" "00057858" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044510" "05114" "00057859" "00006" "Isolated (sporadic)" "" "all motor milestones delayed (axial hypotonia/increased limb tone due to spasticity); never acquired independent walking; 6y-able to take steps with hands held, using standing device; communication skills mostly confined to sign language, vision severely impaired (marked myopia complicated by bilateral partial retinal detachment); brain MRI cerebellar cysts, thin corpus callosum, diffusely abnormal white matter signal on T2-weighted images, cortical dysplasia (frontoparietal polymicrogyria); severe hyptonia; CPK: 1132 U/L" "4m" "" "developmental delay, large head circumference" "" "" "" "" "" "" "" "" "0000044511" "00000" "00057860" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000044512" "00361" "00057861" "00006" "Isolated (sporadic)" "" "brain MRI severe hydrocephalus, cobblestone lissencephaly, severe hyptonia, did not attain any motor milestones; CPK: 1086 U/L" "" "" "" "" "" "" "" "" "" "" "" "0000044513" "00000" "00057862" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281300" "00139" "00387732" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281466" "00139" "00387898" "00006" "Familial, autosomal recessive" "" "non-syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000284152" "05117" "00390615" "00006" "Familial, autosomal dominant" "2y1m" "muscle-eye-brain disease; 1y-sit supported; contractures knee; intellectual disability; no seizures; esotropia; CK level 3305 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia" "1d" "" "" "" "" "" "" "" "" "congenital muscular dystrophy, mental retardation" "" "0000284153" "05117" "00390616" "00006" "Familial, autosomal dominant" "3y2m" "muscle-eye-brain disease; 1y1m-walk supported; no contractures; intellectual disability; no seizures; esotropia; CK level 103 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia" "3m" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000284154" "05117" "00390617" "00006" "Familial, autosomal dominant" "2y" "muscle-eye-brain disease; 1y3m-walk supported; no contractures; intellectual disability; no seizures; esotropia; CK level 565 IU/L; MRI brain polymicrogyria or pachygyria, cerebellar abnormalities with or without brainstem hypoplasia" "4m" "" "" "" "" "" "" "" "" "congenital muscular dystrophy, mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057807" "00057846" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057808" "00057847" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057809" "00057848" "1" "00006" "00006" "2013-07-25 18:08:46" "00006" "2013-07-28 11:13:39" "SEQ;SEQ-NG" "DNA" "" "" "0000057810" "00057849" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057811" "00057850" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057812" "00057851" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057813" "00057852" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057814" "00057853" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057815" "00057854" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057816" "00057855" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057817" "00057856" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057818" "00057857" "1" "00006" "00006" "2013-03-07 22:36:27" "00006" "2013-04-17 21:30:15" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057819" "00057858" "1" "00006" "00006" "2013-03-07 22:36:27" "00006" "2013-04-17 21:29:55" "SEQ" "DNA" "" "" "0000057820" "00057859" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057821" "00057860" "1" "00006" "00006" "2013-03-07 22:36:27" "" "" "SEQ" "DNA" "" "" "0000057822" "00057861" "1" "00006" "00006" "2013-03-07 22:36:27" "00006" "2013-04-17 21:25:15" "SEQ" "DNA" "" "" "0000057823" "00057862" "1" "00006" "00006" "2013-03-07 22:36:27" "00006" "2013-04-17 21:25:54" "SEQ" "DNA" "" "" "0000290919" "00289751" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290920" "00289752" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290921" "00289753" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290922" "00289754" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290923" "00289755" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000388963" "00387732" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389129" "00387898" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391856" "00390615" "1" "00006" "00006" "2021-11-10 16:44:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391857" "00390616" "1" "00006" "00006" "2021-11-10 16:44:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391858" "00390617" "1" "00006" "00006" "2021-11-10 16:44:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000057807" "B3GALNT2" "0000057808" "B3GALNT2" "0000057809" "B3GALNT2" "0000057810" "B3GALNT2" "0000057811" "B3GALNT2" "0000057812" "B3GALNT2" "0000057813" "B3GALNT2" "0000057814" "B3GALNT2" "0000057815" "B3GALNT2" "0000057816" "B3GALNT2" "0000057817" "B3GALNT2" "0000057818" "B3GALNT2" "0000057819" "B3GALNT2" "0000057820" "B3GALNT2" "0000057821" "B3GALNT2" "0000057822" "B3GALNT2" "0000057823" "B3GALNT2" "0000388963" "B3GALNT2" "0000389129" "B3GALNT2" ## 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 = 154 "{{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}}" "0000088101" "11" "90" "1" "235667485" "235667507" "dup" "0" "00006" "B3GALNT2_000002" "g.235667485_235667507dup" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235504185_235504207dup" "" "pathogenic" "" "0000088102" "1" "90" "1" "235667485" "235667507" "dup" "0" "00006" "B3GALNT2_000002" "g.235667485_235667507dup" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235504185_235504207dup" "" "pathogenic" "" "0000088103" "11" "90" "1" "235658059" "235658059" "dup" "0" "00006" "B3GALNT2_000010" "g.235658059dup" "" "" "" "191_192insT" "" "Germline" "" "" "0" "" "" "g.235494749dup" "" "pathogenic" "" "0000088104" "11" "90" "1" "235652527" "235652528" "del" "0" "00006" "B3GALNT2_000004" "g.235652527_235652528del" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235489222_235489223del" "" "pathogenic" "" "0000088105" "1" "90" "1" "235652527" "235652528" "del" "0" "00006" "B3GALNT2_000004" "g.235652527_235652528del" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235489222_235489223del" "" "pathogenic" "" "0000088106" "1" "90" "1" "235634199" "235634200" "del" "0" "00006" "B3GALNT2_000003" "g.235634199_235634200del" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235470885_235470886del" "" "pathogenic" "" "0000088107" "1" "90" "1" "235634186" "235634186" "subst" "0.0000121891" "00006" "B3GALNT2_000001" "g.235634186C>T" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235470872C>T" "" "pathogenic" "" "0000088108" "11" "90" "1" "235634171" "235634171" "subst" "0" "00006" "B3GALNT2_000009" "g.235634171A>C" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235470857A>C" "" "pathogenic" "" "0000088109" "1" "90" "1" "235634171" "235634171" "subst" "0" "00006" "B3GALNT2_000009" "g.235634171A>C" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235470857A>C" "" "pathogenic" "" "0000088110" "11" "90" "1" "235628992" "235628992" "subst" "0.0000121879" "00006" "B3GALNT2_000005" "g.235628992C>T" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235465675C>T" "" "pathogenic" "" "0000088111" "1" "90" "1" "235628992" "235628992" "subst" "0.0000121879" "00006" "B3GALNT2_000005" "g.235628992C>T" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235465675C>T" "" "pathogenic" "" "0000088112" "10" "90" "1" "235628971" "235628972" "dup" "0" "00006" "B3GALNT2_000008" "g.235628971_235628972dup" "" "{PMID:Stevens 2013:23453667}" "" "822_823dup" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235465654_235465655dup" "" "pathogenic" "" "0000088113" "1" "90" "1" "235628971" "235628972" "dup" "0" "00006" "B3GALNT2_000008" "g.235628971_235628972dup" "" "{PMID:Stevens 2013:23453667}" "" "822_823dup" "" "Unknown" "yes" "" "0" "" "" "g.235465654_235465655dup" "" "pathogenic" "" "0000088114" "11" "90" "1" "235622061" "235622061" "subst" "0.00000434269" "00006" "B3GALNT2_000007" "g.235622061C>G" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235458753C>G" "" "pathogenic" "" "0000088115" "1" "90" "1" "235622061" "235622061" "subst" "0.00000434269" "00006" "B3GALNT2_000007" "g.235622061C>G" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235458753C>G" "" "pathogenic" "" "0000088116" "1" "90" "1" "235613601" "235613601" "subst" "0" "00006" "B3GALNT2_000006" "g.235613601G>A" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235450286G>A" "" "pathogenic" "" "0000088117" "1" "90" "1" "235613601" "235613601" "subst" "0" "00006" "B3GALNT2_000006" "g.235613601G>A" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235450286G>A" "" "pathogenic" "" "0000088151" "21" "90" "1" "235667485" "235667507" "dup" "0" "00006" "B3GALNT2_000002" "g.235667485_235667507dup" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235504185_235504207dup" "" "pathogenic" "" "0000088152" "21" "90" "1" "235652527" "235652528" "del" "0" "00006" "B3GALNT2_000004" "g.235652527_235652528del" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235489222_235489223del" "" "pathogenic" "" "0000088153" "21" "90" "1" "235652527" "235652528" "del" "0" "00006" "B3GALNT2_000004" "g.235652527_235652528del" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Germline" "yes" "" "0" "" "" "g.235489222_235489223del" "" "pathogenic" "" "0000088154" "21" "90" "1" "235634199" "235634200" "del" "0" "00006" "B3GALNT2_000003" "g.235634199_235634200del" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235470885_235470886del" "" "pathogenic" "" "0000088155" "21" "90" "1" "235634186" "235634186" "subst" "0.0000121891" "00006" "B3GALNT2_000001" "g.235634186C>T" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235470872C>T" "" "pathogenic" "" "0000088156" "21" "90" "1" "235628992" "235628992" "subst" "0.0000121879" "00006" "B3GALNT2_000005" "g.235628992C>T" "" "{PMID:Stevens 2013:23453667}" "" "" "exome sequencing" "Germline" "yes" "" "0" "" "" "g.235465675C>T" "" "pathogenic" "" "0000088157" "21" "50" "1" "235621957" "235621957" "subst" "0.0000245449" "00006" "B3GALNT2_000011" "g.235621957C>T" "" "" "" "979G/A" "" "Germline" "?" "" "0" "" "" "g.235458649C>T" "" "VUS" "" "0000088158" "2" "90" "1" "235613601" "235613601" "subst" "0" "00006" "B3GALNT2_000006" "g.235613601G>A" "" "{PMID:Stevens 2013:23453667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.235450286G>A" "" "pathogenic" "" "0000250997" "0" "10" "1" "235600741" "235600741" "subst" "0.0206083" "02326" "TBCE_000026" "g.235600741A>G" "" "" "" "TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235437426A>G" "" "benign" "" "0000251068" "0" "10" "1" "235602193" "235602193" "subst" "0.00587156" "02326" "TBCE_000029" "g.235602193A>G" "" "" "" "TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235438878A>G" "" "benign" "" "0000251212" "0" "10" "1" "235590819" "235590819" "subst" "0" "02326" "TBCE_000013" "g.235590819A>G" "" "" "" "TBCE(NM_001079515.2):c.560+265A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235427504A>G" "" "benign" "" "0000251213" "0" "10" "1" "235600049" "235600049" "subst" "0" "02326" "TBCE_000023" "g.235600049A>C" "" "" "" "TBCE(NM_001079515.2):c.963+126A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235436734A>C" "" "benign" "" "0000252707" "0" "50" "1" "235594028" "235594028" "subst" "0.000347069" "02326" "TBCE_000014" "g.235594028A>C" "" "" "" "TBCE(NM_001079515.2):c.569A>C (p.K190T), TBCE(NM_001287801.2):c.569A>C (p.K190T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235430713A>C" "" "VUS" "" "0000263474" "0" "10" "1" "235652513" "235652513" "subst" "0.589035" "01943" "B3GALNT2_000020" "g.235652513T>C" "" "" "" "B3GALNT2(NM_152490.4):c.321A>G (p.E107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235489208T>C" "" "benign" "" "0000263475" "0" "10" "1" "235647631" "235647631" "subst" "0.589429" "01943" "B3GALNT2_000019" "g.235647631G>T" "" "" "" "B3GALNT2(NM_152490.4):c.555+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235484315G>T" "" "benign" "" "0000263476" "0" "30" "1" "235634233" "235634233" "subst" "0.0000243772" "01943" "B3GALNT2_000018" "g.235634233G>A" "" "" "" "B3GALNT2(NM_152490.4):c.693C>T (p.H231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235470919G>A" "" "likely benign" "" "0000311728" "0" "30" "1" "235543514" "235543529" "del" "0" "02325" "TBCE_000003" "g.235543514_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100+65delGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380199_235380214del" "" "likely benign" "" "0000311729" "0" "10" "1" "235543512" "235543529" "del" "0" "02325" "TBCE_000004" "g.235543512_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380197_235380214del" "" "benign" "" "0000311730" "0" "10" "1" "235543516" "235543529" "del" "0" "02325" "TBCE_000008" "g.235543516_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380201_235380214del" "" "benign" "" "0000311731" "0" "30" "1" "235577776" "235577776" "subst" "0.00361598" "02325" "TBCE_000011" "g.235577776C>T" "" "" "" "TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235414461C>T" "" "likely benign" "" "0000314408" "0" "30" "1" "235543516" "235543529" "del" "0" "02326" "TBCE_000002" "g.235543516_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380201_235380214del" "" "likely benign" "" "0000314409" "0" "30" "1" "235543514" "235543529" "del" "0" "02326" "TBCE_000003" "g.235543514_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100+65delGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380199_235380214del" "" "likely benign" "" "0000314410" "0" "30" "1" "235543512" "235543529" "del" "0" "02326" "TBCE_000004" "g.235543512_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380197_235380214del" "" "likely benign" "" "0000314411" "0" "10" "1" "235543508" "235543529" "del" "0" "02326" "TBCE_000005" "g.235543508_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380193_235380214del" "" "benign" "" "0000314415" "0" "30" "1" "235564813" "235564813" "subst" "0.000929964" "02326" "TBCE_000009" "g.235564813G>A" "" "" "" "TBCE(NM_001079515.2):c.101-5G>A, TBCE(NM_001287801.2):c.101-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235401498G>A" "" "likely benign" "" "0000314416" "0" "10" "1" "235600911" "235600911" "subst" "0" "02326" "TBCE_000027" "g.235600911C>G" "" "" "" "TBCE(NM_001079515.2):c.1116+122C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235437596C>G" "" "benign" "" "0000314417" "0" "10" "1" "235606067" "235606067" "subst" "0" "02326" "TBCE_000030" "g.235606067T>A" "" "" "" "TBCE(NM_001079515.2):c.1340-100T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235442752T>A" "" "benign" "" "0000314418" "0" "10" "1" "235606238" "235606238" "subst" "0" "02326" "TBCE_000031" "g.235606238C>T" "" "" "" "TBCE(NM_001079515.2):c.1399+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235442923C>T" "" "benign" "" "0000314420" "0" "10" "1" "235606270" "235606270" "subst" "0.000306008" "02326" "TBCE_000032" "g.235606270G>T" "" "" "" "TBCE(NM_001079515.2):c.1399+44G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235442955G>T" "" "benign" "" "0000314421" "0" "30" "1" "235611650" "235611650" "subst" "0.00318802" "02326" "B3GALNT2_000012" "g.235611650T>C" "" "" "" "TBCE(NM_001079515.2):c.1400-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235448335T>C" "" "likely benign" "" "0000314422" "0" "30" "1" "235611729" "235611729" "subst" "0.000548482" "02326" "B3GALNT2_000013" "g.235611729C>A" "" "" "" "TBCE(NM_001079515.2):c.1465C>A (p.L489I), TBCE(NM_001287801.2):c.1618C>A (p.L540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235448414C>A" "" "likely benign" "" "0000314423" "0" "30" "1" "235577753" "235577753" "subst" "0.000304871" "02326" "TBCE_000010" "g.235577753C>T" "" "" "" "TBCE(NM_001079515.2):c.191C>T (p.P64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235414438C>T" "" "likely benign" "" "0000314424" "0" "30" "1" "235577776" "235577776" "subst" "0.00361598" "02326" "TBCE_000011" "g.235577776C>T" "" "" "" "TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235414461C>T" "" "likely benign" "" "0000314425" "0" "10" "1" "235594073" "235594073" "subst" "0.00592699" "02326" "TBCE_000015" "g.235594073T>C" "" "" "" "TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235430758T>C" "" "benign" "" "0000314426" "0" "10" "1" "235597400" "235597400" "subst" "0" "02326" "TBCE_000017" "g.235597400G>A" "" "" "" "TBCE(NM_001079515.2):c.661-119G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235434085G>A" "" "benign" "" "0000314428" "0" "30" "1" "235597525" "235597525" "subst" "0.000617374" "02326" "TBCE_000018" "g.235597525C>T" "" "" "" "TBCE(NM_001079515.2):c.667C>T (p.R223W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235434210C>T" "" "likely benign" "" "0000314429" "0" "30" "1" "235597606" "235597606" "subst" "0.000601069" "02326" "TBCE_000019" "g.235597606C>T" "" "" "" "TBCE(NM_001079515.2):c.737+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235434291C>T" "" "likely benign" "" "0000314430" "0" "10" "1" "235598887" "235598887" "subst" "0" "02326" "TBCE_000020" "g.235598887G>A" "" "" "" "TBCE(NM_001079515.2):c.738-173G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235435572G>A" "" "benign" "" "0000314431" "0" "10" "1" "235600590" "235600590" "subst" "0.0205763" "02326" "TBCE_000024" "g.235600590G>A" "" "" "" "TBCE(NM_001079515.2):c.964-47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235437275G>A" "" "benign" "" "0000314432" "0" "10" "1" "235600671" "235600671" "subst" "0.00243227" "02326" "TBCE_000025" "g.235600671G>C" "" "" "" "TBCE(NM_001079515.2):c.998G>C (p.S333T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235437356G>C" "" "benign" "" "0000321370" "0" "50" "1" "235543371" "235543371" "del" "0" "01804" "TBCE_000001" "g.235543371del" "" "" "" "TBCE(NM_001079515.1):c.7delG (p.(Asp3ThrfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235380056del" "" "VUS" "" "0000321371" "0" "50" "1" "235599877" "235599877" "subst" "0.0000162422" "01804" "TBCE_000021" "g.235599877T>C" "" "" "" "TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235436562T>C" "" "VUS" "" "0000321374" "0" "50" "1" "235612073" "235612073" "subst" "0.0000040818" "01804" "B3GALNT2_000014" "g.235612073G>A" "" "" "" "TBCE(NM_001079515.1):c.1580G>A (p.(Trp527Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235448758G>A" "" "VUS" "" "0000321375" "0" "50" "1" "235616407" "235616407" "subst" "0" "01804" "B3GALNT2_000015" "g.235616407A>G" "" "" "" "B3GALNT2(NM_152490.2):c.1363T>C (p.(Tyr455His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235453095A>G" "" "VUS" "" "0000337567" "0" "90" "1" "235564817" "235564817" "subst" "0" "02327" "TBCE_000034" "g.235564817G>C" "" "" "" "TBCE(NM_003193.5):c.101-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.235401502G>C" "" "pathogenic" "" "0000505965" "0" "30" "1" "235543477" "235543477" "subst" "0" "02326" "TBCE_000035" "g.235543477T>G" "" "" "" "TBCE(NM_001079515.2):c.100+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380162T>G" "" "likely benign" "" "0000505966" "0" "30" "1" "235543477" "235543477" "del" "0" "02330" "TBCE_000036" "g.235543477del" "" "" "" "TBCE(NM_001287801.2):c.100+13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380162del" "" "likely benign" "" "0000505967" "0" "30" "1" "235543479" "235543479" "del" "0" "02330" "TBCE_000037" "g.235543479del" "" "" "" "TBCE(NM_001287801.2):c.100+15delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380164del" "" "likely benign" "" "0000505968" "0" "10" "1" "235543508" "235543529" "del" "0" "02330" "TBCE_000005" "g.235543508_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+44_100+65delGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380193_235380214del" "" "benign" "" "0000505969" "0" "10" "1" "235543510" "235543529" "del" "0" "02330" "TBCE_000038" "g.235543510_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+46_100+65delGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380195_235380214del" "" "benign" "" "0000505970" "0" "10" "1" "235543512" "235543529" "del" "0" "02330" "TBCE_000004" "g.235543512_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+48_100+65delGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380197_235380214del" "" "benign" "" "0000505971" "0" "10" "1" "235543514" "235543529" "del" "0" "02330" "TBCE_000003" "g.235543514_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+50_100+65delGTGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+50_100+65delGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380199_235380214del" "" "benign" "" "0000505972" "0" "30" "1" "235543516" "235543529" "del" "0" "02330" "TBCE_000002" "g.235543516_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+52_100+65delGTGTGTGTGTGTGT, TBCE(NM_001287801.2):c.100+52_100+65delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380201_235380214del" "" "likely benign" "" "0000505973" "0" "30" "1" "235543518" "235543529" "del" "0" "02330" "TBCE_000039" "g.235543518_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+54_100+65delGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380203_235380214del" "" "likely benign" "" "0000505974" "0" "10" "1" "235543520" "235543529" "del" "0" "02330" "TBCE_000040" "g.235543520_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+56_100+65delGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380205_235380214del" "" "benign" "" "0000505975" "0" "10" "1" "235543524" "235543529" "del" "0" "02330" "TBCE_000041" "g.235543524_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+60_100+65delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380209_235380214del" "" "benign" "" "0000505976" "0" "10" "1" "235543526" "235543529" "del" "0" "02330" "TBCE_000042" "g.235543526_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+62_100+65delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380211_235380214del" "" "benign" "" "0000505977" "0" "10" "1" "235543528" "235543529" "del" "0" "02326" "TBCE_000043" "g.235543528_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+64_100+65delGT, TBCE(NM_001287801.2):c.100+64_100+65delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380213_235380214del" "" "benign" "" "0000505978" "0" "10" "1" "235543528" "235543529" "del" "0" "02330" "TBCE_000043" "g.235543528_235543529del" "" "" "" "TBCE(NM_001079515.2):c.100+64_100+65delGT, TBCE(NM_001287801.2):c.100+64_100+65delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380213_235380214del" "" "benign" "" "0000505979" "0" "30" "1" "235577756" "235577756" "subst" "0.000325132" "02326" "TBCE_000044" "g.235577756C>A" "" "" "" "TBCE(NM_001079515.2):c.194C>A (p.T65K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235414441C>A" "" "likely benign" "" "0000505980" "0" "30" "1" "235577776" "235577776" "subst" "0.00361598" "02330" "TBCE_000011" "g.235577776C>T" "" "" "" "TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235414461C>T" "" "likely benign" "" "0000505981" "0" "50" "1" "235577894" "235577899" "del" "0.00000812869" "02325" "TBCE_000045" "g.235577894_235577899del" "" "" "" "TBCE(NM_001287801.2):c.332_337delTGGAGA (p.V111_T113delinsA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235414579_235414584del" "" "VUS" "" "0000505982" "0" "50" "1" "235577935" "235577941" "dup" "0" "01943" "TBCE_000046" "g.235577935_235577941dup" "" "" "" "TBCE(NM_001287801.1):c.371_372insGTAAGTG (p.S124Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235414620_235414626dup" "" "VUS" "" "0000505984" "0" "10" "1" "235590559" "235590559" "subst" "0.0938739" "02330" "TBCE_000048" "g.235590559G>A" "" "" "" "TBCE(NM_001287801.2):c.560+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235427244G>A" "" "benign" "" "0000505985" "0" "10" "1" "235594073" "235594073" "subst" "0.00592699" "02330" "TBCE_000015" "g.235594073T>C" "" "" "" "TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235430758T>C" "" "benign" "" "0000505986" "0" "10" "1" "235596256" "235596256" "del" "0" "02330" "TBCE_000049" "g.235596256del" "" "" "" "TBCE(NM_001287801.2):c.661-5delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235432941del" "" "benign" "" "0000505987" "0" "10" "1" "235596256" "235596256" "dup" "0" "02330" "TBCE_000050" "g.235596256dup" "" "" "" "TBCE(NM_001287801.2):c.661-5dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235432941dup" "" "benign" "" "0000505988" "0" "10" "1" "235596323" "235596323" "subst" "0" "02330" "TBCE_000051" "g.235596323C>T" "" "" "" "TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235433008C>T" "" "benign" "" "0000505989" "0" "10" "1" "235596323" "235596323" "subst" "0" "02326" "TBCE_000051" "g.235596323C>T" "" "" "" "TBCE(NM_001079515.2):c.661-1196C>T, TBCE(NM_001287801.2):c.723C>T (p.F241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235433008C>T" "" "benign" "" "0000505990" "0" "10" "1" "235597383" "235597384" "ins" "0" "02326" "TBCE_000052" "g.235597383_235597384insTA" "" "" "" "TBCE(NM_001079515.2):c.661-137_661-136insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235434068_235434069insTA" "" "benign" "" "0000505991" "0" "30" "1" "235600663" "235600663" "subst" "0" "01804" "TBCE_000053" "g.235600663G>T" "" "" "" "TBCE(NM_001079515.1):c.990G>T (p.(Lys330Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235437348G>T" "" "likely benign" "" "0000505992" "0" "10" "1" "235600741" "235600741" "subst" "0.0206083" "02330" "TBCE_000026" "g.235600741A>G" "" "" "" "TBCE(NM_001079515.2):c.1068A>G (p.L356=), TBCE(NM_001287801.2):c.1221A>G (p.L407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235437426A>G" "" "benign" "" "0000505993" "0" "10" "1" "235600813" "235600813" "subst" "0.0205844" "02326" "TBCE_000054" "g.235600813A>C" "" "" "" "TBCE(NM_001079515.2):c.1116+24A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235437498A>C" "" "benign" "" "0000505994" "0" "10" "1" "235602193" "235602193" "subst" "0.00587156" "02330" "TBCE_000029" "g.235602193A>G" "" "" "" "TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235438878A>G" "" "benign" "" "0000505995" "0" "30" "1" "235605204" "235605204" "subst" "0.0000162689" "02326" "TBCE_000055" "g.235605204A>T" "" "" "" "TBCE(NM_001079515.2):c.1339+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235441889A>T" "" "likely benign" "" "0000505996" "0" "10" "1" "235606407" "235606407" "dup" "0" "02326" "TBCE_000056" "g.235606407dup" "" "" "" "TBCE(NM_001079515.2):c.1399+181dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235443092dup" "" "benign" "" "0000505997" "0" "30" "1" "235611990" "235611990" "subst" "0.000223416" "02326" "TBCE_000057" "g.235611990G>A" "" "" "" "TBCE(NM_001079515.2):c.1497G>A (p.P499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235448675G>A" "" "likely benign" "" "0000506000" "0" "70" "1" "235628971" "235628972" "dup" "0" "01943" "TBCE_000059" "g.235628971_235628972dup" "" "" "" "B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235465654_235465655dup" "" "likely pathogenic" "" "0000506001" "0" "90" "1" "235628971" "235628972" "dup" "0" "02329" "TBCE_000059" "g.235628971_235628972dup" "" "" "" "B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235465654_235465655dup" "" "pathogenic" "" "0000506003" "0" "30" "1" "235647824" "235647824" "subst" "0.000305768" "01943" "TBCE_000061" "g.235647824A>G" "" "" "" "B3GALNT2(NM_152490.4):c.369T>C (p.N123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235484508A>G" "" "likely benign" "" "0000506004" "0" "10" "1" "235658099" "235658099" "subst" "0.00164447" "01943" "TBCE_000062" "g.235658099T>C" "" "" "" "B3GALNT2(NM_152490.4):c.152A>G (p.Y51C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235494789T>C" "" "benign" "" "0000506009" "0" "30" "1" "235659635" "235659635" "dup" "0" "01804" "TBCE_000065" "g.235659635dup" "" "" "" "B3GALNT2(NM_001277155.2):c.113-4dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235496325dup" "" "likely benign" "" "0000605420" "0" "10" "1" "235543506" "235543529" "del" "0" "02330" "TBCE_000066" "g.235543506_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+42_100+65delGTGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380191_235380214del" "" "benign" "" "0000605421" "0" "10" "1" "235543522" "235543529" "del" "0" "02330" "TBCE_000067" "g.235543522_235543529del" "" "" "" "TBCE(NM_001287801.2):c.100+58_100+65delGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380207_235380214del" "" "benign" "" "0000605422" "0" "10" "1" "235543528" "235543529" "dup" "0" "02330" "TBCE_000068" "g.235543528_235543529dup" "" "" "" "TBCE(NM_001287801.2):c.100+63_100+64dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235380213_235380214dup" "" "benign" "" "0000605423" "0" "50" "1" "235582810" "235582810" "subst" "0.000442611" "02330" "TBCE_000069" "g.235582810G>A" "" "" "" "TBCE(NM_001287801.2):c.394G>A (p.V132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235419495G>A" "" "VUS" "" "0000605424" "0" "30" "1" "235594044" "235594044" "subst" "0.000545003" "02330" "TBCE_000070" "g.235594044C>T" "" "" "" "TBCE(NM_001287801.2):c.585C>T (p.S195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235430729C>T" "" "likely benign" "" "0000605425" "0" "30" "1" "235600773" "235600773" "subst" "0.0000487302" "01804" "TBCE_000071" "g.235600773C>T" "" "" "" "TBCE(NM_001079515.1):c.1100C>T (p.(Thr367Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235437458C>T" "" "likely benign" "" "0000605426" "0" "50" "1" "235611729" "235611729" "subst" "0.000548482" "02330" "B3GALNT2_000013" "g.235611729C>A" "" "" "" "TBCE(NM_001079515.2):c.1465C>A (p.L489I), TBCE(NM_001287801.2):c.1618C>A (p.L540I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235448414C>A" "" "VUS" "" "0000605427" "0" "30" "1" "235659543" "235659543" "subst" "0.00230384" "01804" "TBCE_000075" "g.235659543C>T" "" "" "" "B3GALNT2(NM_001277155.2):c.188G>A (p.(Gly63Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235496233C>T" "" "likely benign" "" "0000605428" "0" "30" "1" "235667499" "235667499" "subst" "0" "01943" "TBCE_000076" "g.235667499G>A" "" "" "" "B3GALNT2(NM_152490.4):c.54C>T (p.H18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235504199G>A" "" "likely benign" "" "0000620554" "0" "30" "1" "235602230" "235602230" "subst" "0.00005685" "02330" "TBCE_000072" "g.235602230C>G" "" "" "" "TBCE(NM_001287801.2):c.1416C>G (p.L472=), TBCE(NM_003193.5):c.1263C>G (p.L421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235438915C>G" "" "likely benign" "" "0000620555" "0" "50" "1" "235612070" "235612070" "subst" "0.00125623" "02330" "TBCE_000073" "g.235612070G>A" "" "" "" "TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235448755G>A" "" "VUS" "" "0000620556" "0" "30" "1" "235618930" "235618930" "subst" "0.0000975031" "01943" "TBCE_000074" "g.235618930T>C" "" "" "" "B3GALNT2(NM_152490.4):c.1092A>G (p.E364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235455618T>C" "" "likely benign" "" "0000647608" "1" "90" "1" "235613601" "235613601" "subst" "0" "03575" "B3GALNT2_000006" "g.235613601G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs367543077}" "Germline" "" "rs367543077" "0" "" "" "g.235450286G>A" "" "pathogenic" "" "0000647609" "1" "50" "1" "235617601" "235617601" "subst" "0.000146642" "03575" "B3GALNT2_000023" "g.235617601C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs140708018}" "Germline" "" "rs140708018" "0" "" "" "g.235454289C>T" "" "VUS" "" "0000647610" "1" "70" "1" "235634186" "235634186" "subst" "0.0000121891" "03575" "B3GALNT2_000001" "g.235634186C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs367543072}" "Germline" "" "rs367543072" "0" "" "" "g.235470872C>T" "" "likely pathogenic" "" "0000647611" "1" "90" "1" "235652527" "235652528" "del" "0" "03575" "B3GALNT2_000004" "g.235652527_235652528del" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs367543070}" "Germline" "" "rs367543070" "0" "" "" "g.235489222_235489223del" "" "pathogenic" "" "0000647612" "1" "10" "1" "235658099" "235658099" "subst" "0.00164447" "03575" "TBCE_000062" "g.235658099T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs61742900}" "Germline" "" "rs61742900" "0" "" "" "g.235494789T>C" "" "benign" "" "0000653932" "0" "30" "1" "235612070" "235612070" "subst" "0.00125623" "02327" "TBCE_000073" "g.235612070G>A" "" "" "" "TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.235448755G>A" "" "likely benign" "" "0000675701" "0" "10" "1" "235564813" "235564813" "subst" "0.000929964" "02330" "TBCE_000009" "g.235564813G>A" "" "" "" "TBCE(NM_001079515.2):c.101-5G>A, TBCE(NM_001287801.2):c.101-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675702" "0" "90" "1" "235564817" "235564817" "subst" "0" "01943" "TBCE_000034" "g.235564817G>C" "" "" "" "TBCE(NM_003193.5):c.101-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675703" "0" "50" "1" "235599905" "235599905" "subst" "0.000174608" "02330" "TBCE_000081" "g.235599905C>T" "" "" "" "TBCE(NM_001287801.2):c.1098C>T (p.N366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675704" "0" "30" "1" "235611785" "235611790" "dup" "0" "02330" "B3GALNT2_000024" "g.235611785_235611790dup" "" "" "" "TBCE(NM_001287801.2):c.1644+27_1644+32dupCAAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688065" "0" "30" "1" "235594072" "235594072" "subst" "0" "01943" "TBCE_000082" "g.235594072G>T" "" "" "" "TBCE(NM_003193.5):c.613G>T (p.V205L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688066" "0" "30" "1" "235594089" "235594089" "subst" "0.0000243742" "01943" "TBCE_000083" "g.235594089C>T" "" "" "" "TBCE(NM_003193.5):c.630C>T (p.V210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688067" "0" "30" "1" "235596297" "235596297" "subst" "0" "01943" "TBCE_000084" "g.235596297G>A" "" "" "" "TBCE(NM_001287801.1):c.697G>A (p.D233N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688068" "0" "30" "1" "235602230" "235602230" "subst" "0.00005685" "01943" "TBCE_000072" "g.235602230C>G" "" "" "" "TBCE(NM_001287801.2):c.1416C>G (p.L472=), TBCE(NM_003193.5):c.1263C>G (p.L421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717273" "0" "90" "1" "235564888" "235564889" "del" "0" "01943" "TBCE_000086" "g.235564888_235564889del" "" "" "" "TBCE(NM_003193.5):c.171_172delGT (p.Y58Ffs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717274" "0" "30" "1" "235577776" "235577776" "subst" "0.00361598" "01804" "TBCE_000011" "g.235577776C>T" "" "" "" "TBCE(NM_001079515.1):c.214C>T (p.(Pro72Ser)), TBCE(NM_001079515.2):c.214C>T (p.P72S), TBCE(NM_001287801.2):c.214C>T (p.P72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717275" "0" "30" "1" "235577815" "235577815" "subst" "0.00091424" "01804" "TBCE_000087" "g.235577815A>G" "" "" "" "TBCE(NM_001079515.1):c.253A>G (p.(Ile85Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717276" "0" "70" "1" "235582786" "235582786" "subst" "0" "02325" "TBCE_000088" "g.235582786A>T" "" "" "" "TBCE(NM_003193.5):c.372-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717277" "0" "50" "1" "235599875" "235599875" "subst" "0.000182728" "02330" "TBCE_000089" "g.235599875G>C" "" "" "" "TBCE(NM_001287801.2):c.1068G>C (p.M356I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717278" "0" "50" "1" "235600709" "235600709" "subst" "0" "02330" "TBCE_000090" "g.235600709A>G" "" "" "" "TBCE(NM_001287801.2):c.1189A>G (p.K397E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717279" "0" "50" "1" "235602115" "235602115" "subst" "0" "01943" "TBCE_000091" "g.235602115T>C" "" "" "" "TBCE(NM_003193.5):c.1148T>C (p.L383P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717280" "0" "30" "1" "235612070" "235612070" "subst" "0.00125623" "02325" "TBCE_000073" "g.235612070G>A" "" "" "" "TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799174" "0" "30" "1" "235543479" "235543481" "del" "0" "02330" "TBCE_000092" "g.235543479_235543481del" "" "" "" "TBCE(NM_001287801.2):c.100+15_100+17delTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799175" "0" "30" "1" "235596427" "235596427" "subst" "0" "02330" "TBCE_000093" "g.235596427C>T" "" "" "" "TBCE(NM_001287801.2):c.813+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799176" "0" "50" "1" "235599877" "235599877" "subst" "0.0000162422" "02330" "TBCE_000021" "g.235599877T>C" "" "" "" "TBCE(NM_001079515.1):c.917T>C (p.(Phe306Ser)), TBCE(NM_001287801.2):c.1070T>C (p.F357S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799177" "0" "30" "1" "235600774" "235600774" "subst" "0.0000324905" "02330" "TBCE_000094" "g.235600774G>A" "" "" "" "TBCE(NM_001287801.2):c.1254G>A (p.T418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799178" "0" "90" "1" "235628971" "235628972" "dup" "0" "02325" "B3GALNT2_000008" "g.235628971_235628972dup" "" "" "" "B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799179" "0" "50" "1" "235658082" "235658082" "subst" "0.000260364" "02325" "TBCE_000095" "g.235658082C>T" "" "" "" "B3GALNT2(NM_152490.5):c.169G>A (p.V57M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817756" "3" "50" "1" "235643447" "235643447" "subst" "0.000069198" "00006" "B3GALNT2_000025" "g.235643447G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.235480131G>A" "" "VUS" "ACMG" "0000817922" "3" "70" "1" "235621957" "235621957" "subst" "0.0000245449" "00006" "B3GALNT2_000011" "g.235621957C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.235458649C>T" "" "likely pathogenic (recessive)" "ACMG" "0000821782" "1" "90" "1" "235652575" "235652575" "subst" "0.000012215" "00006" "B3GALNT2_000029" "g.235652575T>C" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.235489270T>C" "" "pathogenic (recessive)" "" "0000821783" "1" "90" "1" "235621957" "235621957" "subst" "0.0000245449" "00006" "B3GALNT2_000011" "g.235621957C>T" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.235458649C>T" "" "pathogenic (recessive)" "" "0000821784" "1" "90" "1" "235667505" "235667505" "dup" "0" "00006" "B3GALNT2_000030" "g.235667505dup" "" "{PMID:Song 2021:33200426}" "" "c.48dupG" "" "Germline" "" "" "0" "" "" "g.235504205dup" "" "pathogenic (recessive)" "" "0000821906" "2" "90" "1" "235617472" "235617472" "subst" "0" "00006" "B3GALNT2_000027" "g.235617472T>C" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.235454160T>C" "" "pathogenic (recessive)" "" "0000821907" "2" "90" "1" "235613604" "235613606" "del" "0" "00006" "B3GALNT2_000026" "g.235613604_235613606del" "" "{PMID:Song 2021:33200426}" "" "c.1421_1423delCTC" "" "Germline" "" "" "0" "" "" "g.235450289_235450291del" "" "pathogenic (recessive)" "" "0000821908" "2" "90" "1" "235617596" "235617596" "subst" "0.00000407173" "00006" "B3GALNT2_000028" "g.235617596C>T" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.235454284C>T" "" "pathogenic (recessive)" "" "0000848585" "0" "50" "1" "235594028" "235594028" "subst" "0.000347069" "02330" "TBCE_000014" "g.235594028A>C" "" "" "" "TBCE(NM_001079515.2):c.569A>C (p.K190T), TBCE(NM_001287801.2):c.569A>C (p.K190T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857345" "0" "50" "1" "235543365" "235543365" "subst" "0" "01943" "TBCE_000096" "g.235543365A>G" "" "" "" "TBCE(NM_003193.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857346" "0" "70" "1" "235543465" "235543465" "subst" "0.0000776537" "01804" "TBCE_000097" "g.235543465G>A" "" "" "" "TBCE(NM_001079515.1):c.100+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857347" "0" "30" "1" "235594073" "235594073" "subst" "0.00592699" "01804" "TBCE_000015" "g.235594073T>C" "" "" "" "TBCE(NM_001079515.1):c.614T>C (p.(Val205Ala)), TBCE(NM_001079515.2):c.614T>C (p.V205A), TBCE(NM_001287801.2):c.614T>C (p.V205A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857348" "0" "50" "1" "235600751" "235600751" "subst" "0.00000812196" "01804" "TBCE_000098" "g.235600751G>A" "" "" "" "TBCE(NM_001079515.1):c.1078G>A (p.(Ala360Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857349" "0" "30" "1" "235602193" "235602193" "subst" "0.00587156" "01804" "TBCE_000029" "g.235602193A>G" "" "" "" "TBCE(NM_001079515.1):c.1226A>G (p.(Glu409Gly)), TBCE(NM_001079515.2):c.1226A>G (p.E409G), TBCE(NM_001287801.2):c.1379A>G (p.E460G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857350" "0" "50" "1" "235612070" "235612070" "subst" "0.00125623" "01943" "TBCE_000073" "g.235612070G>A" "" "" "" "TBCE(NM_001287801.2):c.1730G>A (p.R577Q), TBCE(NM_003193.5):c.1577G>A (p.R526Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 B3GALNT2 ## Count = 154 "{{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}}" "0000088101" "00025363" "90" "51" "0" "73" "0" "c.51_73dup" "r.(?)" "p.(Ser25Cysfs*38)" "1" "0000088102" "00025363" "90" "51" "0" "73" "0" "c.51_73dup" "r.(?)" "p.(Ser25Cysfs*38)" "1" "0000088103" "00025363" "90" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Glu65Ter)" "2" "0000088104" "00025363" "90" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Val103Glyfs*10)" "3" "0000088105" "00025363" "90" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Val103Glyfs*10)" "3" "0000088106" "00025363" "90" "726" "0" "727" "0" "c.726_727del" "r.(?)" "p.(Val243Glufs*2)" "6" "0000088107" "00025363" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Glu)" "6" "0000088108" "00025363" "90" "755" "0" "755" "0" "c.755T>G" "r.(?)" "p.(Val252Gly)" "6" "0000088109" "00025363" "90" "755" "0" "755" "0" "c.755T>G" "r.(?)" "p.(Val252Gly)" "6" "0000088110" "00025363" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Met)" "7" "0000088111" "00025363" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Met)" "7" "0000088112" "00025363" "90" "824" "0" "825" "0" "c.824_825dup" "r.(?)" "p.(Ile276Leufs*26)" "7" "0000088113" "00025363" "90" "824" "0" "825" "0" "c.824_825dup" "r.(?)" "p.(Ile276Leufs*26)" "7" "0000088114" "00025363" "90" "875" "0" "875" "0" "c.875G>C" "r.(?)" "p.(Arg292Pro)" "8" "0000088115" "00025363" "90" "875" "0" "875" "0" "c.875G>C" "r.(?)" "p.(Arg292Pro)" "8" "0000088116" "00025363" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475*)" "12" "0000088117" "00025363" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475*)" "12" "0000088151" "00025363" "90" "51" "0" "73" "0" "c.51_73dup" "r.(?)" "p.(Ser25Cysfs*38)" "1" "0000088152" "00025363" "90" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Val103Glyfs*10)" "3" "0000088153" "00025363" "90" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Val103Glyfs*10)" "3" "0000088154" "00025363" "90" "726" "0" "727" "0" "c.726_727del" "r.(?)" "p.(Val243Glufs*2)" "6" "0000088155" "00025363" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Glu)" "6" "0000088156" "00025363" "90" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Met)" "7" "0000088157" "00025363" "50" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Asp327Asn)" "8" "0000088158" "00025363" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475*)" "12" "0000250997" "00025363" "10" "14283" "0" "14283" "0" "c.*12780T>C" "r.(=)" "p.(=)" "" "0000251068" "00025363" "10" "12831" "0" "12831" "0" "c.*11328T>C" "r.(=)" "p.(=)" "" "0000251212" "00025363" "10" "24205" "0" "24205" "0" "c.*22702T>C" "r.(=)" "p.(=)" "" "0000251213" "00025363" "10" "14975" "0" "14975" "0" "c.*13472T>G" "r.(=)" "p.(=)" "" "0000252707" "00025363" "50" "20996" "0" "20996" "0" "c.*19493T>G" "r.(=)" "p.(=)" "" "0000263474" "00025363" "10" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(Glu107=)" "" "0000263475" "00025363" "10" "555" "7" "555" "7" "c.555+7C>A" "r.(=)" "p.(=)" "" "0000263476" "00025363" "30" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(His231=)" "" "0000311728" "00025363" "30" "71532" "0" "71547" "0" "c.*70029_*70044del" "r.(=)" "p.(=)" "" "0000311729" "00025363" "10" "71530" "0" "71547" "0" "c.*70027_*70044del" "r.(=)" "p.(=)" "" "0000311730" "00025363" "10" "71534" "0" "71547" "0" "c.*70031_*70044del" "r.(=)" "p.(=)" "" "0000311731" "00025363" "30" "37248" "0" "37248" "0" "c.*35745G>A" "r.(=)" "p.(=)" "" "0000314408" "00025363" "30" "71534" "0" "71547" "0" "c.*70031_*70044del" "r.(=)" "p.(=)" "" "0000314409" "00025363" "30" "71532" "0" "71547" "0" "c.*70029_*70044del" "r.(=)" "p.(=)" "" "0000314410" "00025363" "30" "71530" "0" "71547" "0" "c.*70027_*70044del" "r.(=)" "p.(=)" "" "0000314411" "00025363" "10" "71526" "0" "71547" "0" "c.*70023_*70044del" "r.(=)" "p.(=)" "" "0000314415" "00025363" "30" "50211" "0" "50211" "0" "c.*48708C>T" "r.(=)" "p.(=)" "" "0000314416" "00025363" "10" "14113" "0" "14113" "0" "c.*12610G>C" "r.(=)" "p.(=)" "" "0000314417" "00025363" "10" "8957" "0" "8957" "0" "c.*7454A>T" "r.(=)" "p.(=)" "" "0000314418" "00025363" "10" "8786" "0" "8786" "0" "c.*7283G>A" "r.(=)" "p.(=)" "" "0000314420" "00025363" "10" "8754" "0" "8754" "0" "c.*7251C>A" "r.(=)" "p.(=)" "" "0000314421" "00025363" "30" "3374" "0" "3374" "0" "c.*1871A>G" "r.(=)" "p.(=)" "" "0000314422" "00025363" "30" "3295" "0" "3295" "0" "c.*1792G>T" "r.(=)" "p.(=)" "" "0000314423" "00025363" "30" "37271" "0" "37271" "0" "c.*35768G>A" "r.(=)" "p.(=)" "" "0000314424" "00025363" "30" "37248" "0" "37248" "0" "c.*35745G>A" "r.(=)" "p.(=)" "" "0000314425" "00025363" "10" "20951" "0" "20951" "0" "c.*19448A>G" "r.(=)" "p.(=)" "" "0000314426" "00025363" "10" "17624" "0" "17624" "0" "c.*16121C>T" "r.(=)" "p.(=)" "" "0000314428" "00025363" "30" "17499" "0" "17499" "0" "c.*15996G>A" "r.(=)" "p.(=)" "" "0000314429" "00025363" "30" "17418" "0" "17418" "0" "c.*15915G>A" "r.(=)" "p.(=)" "" "0000314430" "00025363" "10" "16137" "0" "16137" "0" "c.*14634C>T" "r.(=)" "p.(=)" "" "0000314431" "00025363" "10" "14434" "0" "14434" "0" "c.*12931C>T" "r.(=)" "p.(=)" "" "0000314432" "00025363" "10" "14353" "0" "14353" "0" "c.*12850C>G" "r.(=)" "p.(=)" "" "0000321370" "00025363" "50" "71653" "0" "71653" "0" "c.*70150del" "r.(?)" "p.(=)" "" "0000321371" "00025363" "50" "15147" "0" "15147" "0" "c.*13644A>G" "r.(=)" "p.(=)" "" "0000321374" "00025363" "50" "2951" "0" "2951" "0" "c.*1448C>T" "r.(=)" "p.(=)" "" "0000321375" "00025363" "50" "1363" "0" "1363" "0" "c.1363T>C" "r.(?)" "p.(Tyr455His)" "" "0000337567" "00025363" "90" "50207" "0" "50207" "0" "c.*48704C>G" "r.(=)" "p.(=)" "" "0000505965" "00025363" "30" "71547" "0" "71547" "0" "c.*70044A>C" "r.(=)" "p.(=)" "" "0000505966" "00025363" "30" "71548" "0" "71548" "0" "c.*70045del" "r.(?)" "p.(=)" "" "0000505967" "00025363" "30" "71545" "0" "71545" "0" "c.*70042del" "r.(?)" "p.(=)" "" "0000505968" "00025363" "10" "71526" "0" "71547" "0" "c.*70023_*70044del" "r.(=)" "p.(=)" "" "0000505969" "00025363" "10" "71528" "0" "71547" "0" "c.*70025_*70044del" "r.(=)" "p.(=)" "" "0000505970" "00025363" "10" "71530" "0" "71547" "0" "c.*70027_*70044del" "r.(=)" "p.(=)" "" "0000505971" "00025363" "10" "71532" "0" "71547" "0" "c.*70029_*70044del" "r.(=)" "p.(=)" "" "0000505972" "00025363" "30" "71534" "0" "71547" "0" "c.*70031_*70044del" "r.(=)" "p.(=)" "" "0000505973" "00025363" "30" "71536" "0" "71547" "0" "c.*70033_*70044del" "r.(=)" "p.(=)" "" "0000505974" "00025363" "10" "71538" "0" "71547" "0" "c.*70035_*70044del" "r.(=)" "p.(=)" "" "0000505975" "00025363" "10" "71542" "0" "71547" "0" "c.*70039_*70044del" "r.(=)" "p.(=)" "" "0000505976" "00025363" "10" "71544" "0" "71547" "0" "c.*70041_*70044del" "r.(=)" "p.(=)" "" "0000505977" "00025363" "10" "71546" "0" "71547" "0" "c.*70043_*70044del" "r.(=)" "p.(=)" "" "0000505978" "00025363" "10" "71546" "0" "71547" "0" "c.*70043_*70044del" "r.(=)" "p.(=)" "" "0000505979" "00025363" "30" "37268" "0" "37268" "0" "c.*35765G>T" "r.(=)" "p.(=)" "" "0000505980" "00025363" "30" "37248" "0" "37248" "0" "c.*35745G>A" "r.(=)" "p.(=)" "" "0000505981" "00025363" "50" "37125" "0" "37130" "0" "c.*35622_*35627del" "r.(=)" "p.(=)" "" "0000505982" "00025363" "50" "37085" "0" "37091" "0" "c.*35582_*35588dup" "r.(=)" "p.(=)" "" "0000505984" "00025363" "10" "24465" "0" "24465" "0" "c.*22962C>T" "r.(=)" "p.(=)" "" "0000505985" "00025363" "10" "20951" "0" "20951" "0" "c.*19448A>G" "r.(=)" "p.(=)" "" "0000505986" "00025363" "10" "18779" "0" "18779" "0" "c.*17276del" "r.(?)" "p.(=)" "" "0000505987" "00025363" "10" "18779" "0" "18779" "0" "c.*17276dup" "r.(?)" "p.(=)" "" "0000505988" "00025363" "10" "18701" "0" "18701" "0" "c.*17198G>A" "r.(=)" "p.(=)" "" "0000505989" "00025363" "10" "18701" "0" "18701" "0" "c.*17198G>A" "r.(=)" "p.(=)" "" "0000505990" "00025363" "10" "17641" "0" "17642" "0" "c.*16138_*16139insAT" "r.(=)" "p.(=)" "" "0000505991" "00025363" "30" "14361" "0" "14361" "0" "c.*12858C>A" "r.(=)" "p.(=)" "" "0000505992" "00025363" "10" "14283" "0" "14283" "0" "c.*12780T>C" "r.(=)" "p.(=)" "" "0000505993" "00025363" "10" "14211" "0" "14211" "0" "c.*12708T>G" "r.(=)" "p.(=)" "" "0000505994" "00025363" "10" "12831" "0" "12831" "0" "c.*11328T>C" "r.(=)" "p.(=)" "" "0000505995" "00025363" "30" "9820" "0" "9820" "0" "c.*8317T>A" "r.(=)" "p.(=)" "" "0000505996" "00025363" "10" "8621" "0" "8621" "0" "c.*7118dup" "r.(?)" "p.(=)" "" "0000505997" "00025363" "30" "3034" "0" "3034" "0" "c.*1531C>T" "r.(=)" "p.(=)" "" "0000506000" "00025363" "70" "824" "0" "825" "0" "c.824_825dup" "r.(?)" "p.(Ile276LeufsTer26)" "" "0000506001" "00025363" "90" "824" "0" "825" "0" "c.824_825dup" "r.(?)" "p.(Ile276LeufsTer26)" "" "0000506003" "00025363" "30" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Asn123=)" "" "0000506004" "00025363" "10" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Tyr51Cys)" "" "0000506009" "00025363" "30" "113" "-1484" "113" "-1484" "c.113-1484dup" "r.(=)" "p.(=)" "" "0000605420" "00025363" "10" "71524" "0" "71547" "0" "c.*70021_*70044del" "r.(=)" "p.(=)" "" "0000605421" "00025363" "10" "71540" "0" "71547" "0" "c.*70037_*70044del" "r.(=)" "p.(=)" "" "0000605422" "00025363" "10" "71546" "0" "71547" "0" "c.*70043_*70044dup" "r.(=)" "p.(=)" "" "0000605423" "00025363" "50" "32214" "0" "32214" "0" "c.*30711C>T" "r.(=)" "p.(=)" "" "0000605424" "00025363" "30" "20980" "0" "20980" "0" "c.*19477G>A" "r.(=)" "p.(=)" "" "0000605425" "00025363" "30" "14251" "0" "14251" "0" "c.*12748G>A" "r.(=)" "p.(=)" "" "0000605426" "00025363" "50" "3295" "0" "3295" "0" "c.*1792G>T" "r.(=)" "p.(=)" "" "0000605427" "00025363" "30" "113" "-1405" "113" "-1405" "c.113-1405G>A" "r.(=)" "p.(=)" "" "0000605428" "00025363" "30" "54" "0" "54" "0" "c.54C>T" "r.(?)" "p.(His18=)" "" "0000620554" "00025363" "30" "12794" "0" "12794" "0" "c.*11291G>C" "r.(=)" "p.(=)" "" "0000620555" "00025363" "50" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" "0000620556" "00025363" "30" "1092" "0" "1092" "0" "c.1092A>G" "r.(?)" "p.(Glu364=)" "" "0000647608" "00025363" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475*)" "" "0000647609" "00025363" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000647610" "00025363" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Glu)" "" "0000647611" "00025363" "90" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Val103Glyfs*10)" "" "0000647612" "00025363" "10" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Tyr51Cys)" "" "0000653932" "00025363" "30" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" "0000675701" "00025363" "10" "50211" "0" "50211" "0" "c.*48708C>T" "r.(=)" "p.(=)" "" "0000675702" "00025363" "90" "50207" "0" "50207" "0" "c.*48704C>G" "r.(=)" "p.(=)" "" "0000675703" "00025363" "50" "15119" "0" "15119" "0" "c.*13616G>A" "r.(=)" "p.(=)" "" "0000675704" "00025363" "30" "3243" "0" "3248" "0" "c.*1740_*1745dup" "r.(=)" "p.(=)" "" "0000688065" "00025363" "30" "20952" "0" "20952" "0" "c.*19449C>A" "r.(=)" "p.(=)" "" "0000688066" "00025363" "30" "20935" "0" "20935" "0" "c.*19432G>A" "r.(=)" "p.(=)" "" "0000688067" "00025363" "30" "18727" "0" "18727" "0" "c.*17224C>T" "r.(=)" "p.(=)" "" "0000688068" "00025363" "30" "12794" "0" "12794" "0" "c.*11291G>C" "r.(=)" "p.(=)" "" "0000717273" "00025363" "90" "50138" "0" "50139" "0" "c.*48635_*48636del" "r.(=)" "p.(=)" "" "0000717274" "00025363" "30" "37248" "0" "37248" "0" "c.*35745G>A" "r.(=)" "p.(=)" "" "0000717275" "00025363" "30" "37209" "0" "37209" "0" "c.*35706T>C" "r.(=)" "p.(=)" "" "0000717276" "00025363" "70" "32238" "0" "32238" "0" "c.*30735T>A" "r.(=)" "p.(=)" "" "0000717277" "00025363" "50" "15149" "0" "15149" "0" "c.*13646C>G" "r.(=)" "p.(=)" "" "0000717278" "00025363" "50" "14315" "0" "14315" "0" "c.*12812T>C" "r.(=)" "p.(=)" "" "0000717279" "00025363" "50" "12909" "0" "12909" "0" "c.*11406A>G" "r.(=)" "p.(=)" "" "0000717280" "00025363" "30" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" "0000799174" "00025363" "30" "71543" "0" "71545" "0" "c.*70040_*70042del" "r.(=)" "p.(=)" "" "0000799175" "00025363" "30" "18597" "0" "18597" "0" "c.*17094G>A" "r.(=)" "p.(=)" "" "0000799176" "00025363" "50" "15147" "0" "15147" "0" "c.*13644A>G" "r.(=)" "p.(=)" "" "0000799177" "00025363" "30" "14250" "0" "14250" "0" "c.*12747C>T" "r.(=)" "p.(=)" "" "0000799178" "00025363" "90" "824" "0" "825" "0" "c.824_825dup" "r.(?)" "p.(Ile276LeufsTer26)" "" "0000799179" "00025363" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Val57Met)" "" "0000817756" "00025363" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "0000817922" "00025363" "70" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Asp327Asn)" "" "0000821782" "00025363" "90" "261" "-2" "261" "-2" "c.261-2A>G" "r.spl" "p.?" "" "0000821783" "00025363" "90" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Asp327Asn)" "" "0000821784" "00025363" "90" "48" "0" "48" "0" "c.48dup" "r.(?)" "p.(Leu17AlafsTer36)" "" "0000821906" "00025363" "90" "1307" "0" "1307" "0" "c.1307A>G" "r.(?)" "p.(Tyr436Cys)" "" "0000821907" "00025363" "90" "1421" "0" "1423" "0" "c.1421_1423del" "r.(?)" "p.(Pro474del)" "" "0000821908" "00025363" "90" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Gly395Arg)" "" "0000848585" "00025363" "50" "20996" "0" "20996" "0" "c.*19493T>G" "r.(=)" "p.(=)" "" "0000857345" "00025363" "50" "71659" "0" "71659" "0" "c.*70156T>C" "r.(=)" "p.(=)" "" "0000857346" "00025363" "70" "71559" "0" "71559" "0" "c.*70056C>T" "r.(=)" "p.(=)" "" "0000857347" "00025363" "30" "20951" "0" "20951" "0" "c.*19448A>G" "r.(=)" "p.(=)" "" "0000857348" "00025363" "50" "14273" "0" "14273" "0" "c.*12770C>T" "r.(=)" "p.(=)" "" "0000857349" "00025363" "30" "12831" "0" "12831" "0" "c.*11328T>C" "r.(=)" "p.(=)" "" "0000857350" "00025363" "50" "2954" "0" "2954" "0" "c.*1451C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000057807" "0000088101" "0000057807" "0000088151" "0000057808" "0000088102" "0000057809" "0000088103" "0000057809" "0000088157" "0000057810" "0000088104" "0000057810" "0000088153" "0000057811" "0000088105" "0000057812" "0000088106" "0000057813" "0000088107" "0000057814" "0000088108" "0000057814" "0000088152" "0000057815" "0000088109" "0000057816" "0000088110" "0000057816" "0000088156" "0000057817" "0000088111" "0000057818" "0000088112" "0000057818" "0000088154" "0000057819" "0000088113" "0000057820" "0000088114" "0000057820" "0000088155" "0000057821" "0000088115" "0000057822" "0000088116" "0000057822" "0000088158" "0000057823" "0000088117" "0000290919" "0000647608" "0000290920" "0000647609" "0000290921" "0000647610" "0000290922" "0000647611" "0000290923" "0000647612" "0000388963" "0000817756" "0000389129" "0000817922" "0000391856" "0000821782" "0000391856" "0000821906" "0000391857" "0000821783" "0000391857" "0000821907" "0000391858" "0000821784" "0000391858" "0000821908"