### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALNS) # 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}}" "GALNS" "galactosamine (N-acetyl)-6-sulfate sulfatase" "16" "q24.3" "unknown" "NC_000016.9" "UD_132119093164" "" "https://www.LOVD.nl/GALNS" "" "1" "4122" "2588" "612222" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GALNS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-10-28 12:34:26" "00000" "2026-01-20 18:57:21" ## 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}}" "00008319" "GALNS" "galactosamine (N-acetyl)-6-sulfate sulfatase" "001" "NM_000512.4" "" "NP_000503.1" "" "" "" "-89" "2274" "1569" "88923374" "88880142" "" "0000-00-00 00:00:00" "" "" ## 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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01937" "MPS4A" "mucopolysaccharidosis, type IVA (MPS-4A)" "AR" "253000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GALNS" "01937" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00291580" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291581" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291582" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291583" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308751" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00331457" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG2624 , 12DG2625" "00331458" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "15DG0036" "00331459" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG2107, 10DG2108" "00385922" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.15" "00385925" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "F" "" "" "" "0" "" "" "" "V2.49" "00386505" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" "00402890" "" "" "" "1" "" "02404" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "M" "yes" "Sudan" "" "0" "" "" "" "Fam3PatII1" "00418704" "" "" "" "1" "" "00006" "{DOI:Hiatt 2022:10.1101/2022.09.29.22279724}, {PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Fam7" "00419517" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9144" "00455318" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "GALNS-1" "00455319" "" "" "" "1" "" "00006" "{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}" "" "" "" "United States" "" "0" "" "" "" "GALNS-2" "00456268" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat46" "00456547" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "F" "" "China" "" "0" "" "" "" "Pat37" "00456548" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat38" "00456549" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat39" "00456550" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "F" "" "China" "" "0" "" "" "" "Pat40" "00456551" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat41" "00456552" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "F" "" "China" "" "0" "" "" "" "Pat42" "00469830" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469831" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469832" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "patient" "" "" "India" "" "0" "" "" "" "" "00469833" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469834" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469835" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469836" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected parents" "" "" "India" "" "0" "" "" "" "Fam112" "00469837" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469838" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469839" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00470647" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00291580" "00198" "00291581" "00198" "00291582" "00198" "00291583" "00198" "00308751" "00000" "00331457" "05517" "00331458" "05517" "00331459" "05517" "00385922" "00198" "00385925" "05580" "00386505" "00198" "00402890" "04225" "00402890" "05580" "00418704" "01937" "00418704" "05611" "00419517" "00198" "00455318" "05580" "00455319" "05580" "00456268" "00198" "00456547" "05580" "00456548" "05580" "00456549" "05580" "00456550" "05580" "00456551" "05580" "00456552" "05580" "00469830" "05517" "00469831" "05517" "00469832" "05517" "00469833" "05517" "00469834" "05517" "00469835" "05517" "00469836" "05517" "00469837" "05517" "00469838" "05517" "00469839" "05517" "00470647" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01937, 04225, 05517, 05580, 05611, 07210 ## 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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000249649" "05517" "00331457" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Scoliosis, Short stature, Myopia, Short neck, Malar flatteningYes" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" "" "0000249650" "05517" "00331458" "00000" "Familial, autosomal recessive" "" "Pectus carinatum, Short stature" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" "" "0000249651" "05517" "00331459" "00000" "Familial, autosomal recessive" "" "Kyphosis, Corneal opacity, Sleep apnea, Inguinal hernia, Short stature, High, narrow palateNo" "" "" "" "" "" "" "" "" "Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)" "skeletal dysplasia" "" "0000279725" "00198" "00385922" "00006" "Unknown" "20y" "spondyloepiphyseal dysplasia" "" "" "" "" "" "" "" "" "" "spondyloepiphyseal dysplasia" "" "0000279728" "05580" "00385925" "00006" "Unknown" "4y" "mucopolysaccharidosis" "" "" "" "" "" "" "" "" "" "mucopolysaccharidosis" "" "0000280311" "00198" "00386505" "00006" "Unknown" "" "short stature; severe scoliosis (neurological)" "" "" "" "" "" "" "" "" "" "" "" "0000310003" "05611" "00418704" "00006" "Familial, X-linked recessive" "" "speech delay; motor delay; intellectual disability; autism spectrum disorder; behavioral problems; facial dysmorphism; cryptorchidism, enuresis; short stature; mild features MPS4A (skeletal phenotype) caused by GALNS variants" "" "" "" "" "" "" "" "" "NDD;MPS4A" "neurodevelopmental delay" "" "0000310798" "00198" "00419517" "02300" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "" "metabolic abnormality" "" "0000343898" "05580" "00455318" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000343899" "05580" "00455319" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000344787" "00198" "00456268" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "lysosomal storage disorder" "" "0000345055" "05580" "00456547" "00006" "Familial, X-linked recessive" "" "attenuated" "6y" "6y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000345056" "05580" "00456548" "00006" "Familial, X-linked recessive" "" "severe" "2y" "3y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000345057" "05580" "00456549" "00006" "Familial, X-linked recessive" "" "severe" "3y" "3y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000345058" "05580" "00456550" "00006" "Familial, X-linked recessive" "" "severe" "2y" "2y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000345059" "05580" "00456551" "00006" "Familial, X-linked recessive" "" "attenuated" "5y" "5y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000345060" "05580" "00456552" "00006" "Familial, X-linked recessive" "" "attenuated" "10y" "13y" "" "" "" "" "" "" "MPS4A" "mucopolysaccharidosis" "" "0000354975" "05517" "00469830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354976" "05517" "00469831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354977" "05517" "00469832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354978" "05517" "00469833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354979" "05517" "00469834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354980" "05517" "00469835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354981" "05517" "00469836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000354982" "05517" "00469837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354983" "05517" "00469838" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000354984" "05517" "00469839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MPS4A" "skeletal dysplasia" "" "0000355541" "07210" "00470647" "00006" "Familial" "16y" "see paper; ... scoliosis, no other skeletal defects; no symptoms;" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292748" "00291580" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292749" "00291581" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292750" "00291582" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292751" "00291583" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309896" "00308751" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000332676" "00331457" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332677" "00331458" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332678" "00331459" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387150" "00385922" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387153" "00385925" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" "0000387732" "00386505" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404131" "00402890" "1" "02404" "02404" "2022-02-13 17:19:24" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000419999" "00418704" "1" "00006" "00006" "2022-10-04 17:07:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420821" "00419517" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000456932" "00455318" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000456933" "00455319" "1" "00006" "00006" "2024-10-07 09:56:02" "" "" "SEQ" "DNA" "" "gene panel" "0000457885" "00456268" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000458164" "00456547" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458165" "00456548" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458166" "00456549" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458167" "00456550" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458168" "00456551" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000458169" "00456552" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471498" "00469830" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471499" "00469831" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471500" "00469832" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471501" "00469833" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471502" "00469834" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471503" "00469835" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471504" "00469836" "1" "00006" "00006" "2025-11-20 12:33:13" "00006" "2025-11-20 14:06:51" "SEQ;SEQ-NG" "DNA" "" "WES, WGS" "0000471505" "00469837" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471506" "00469838" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471507" "00469839" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472314" "00470647" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000309896" "GALNS" "0000332676" "GALNS" "0000332677" "GALNS" "0000332678" "GALNS" "0000387150" "GALNS" "0000387153" "GALNS" "0000456932" "GALNS" "0000456933" "GALNS" "0000458164" "GALNS" "0000458165" "GALNS" "0000458166" "GALNS" "0000458167" "GALNS" "0000458168" "GALNS" "0000458169" "GALNS" ## 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 = 157 "{{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}}" "0000253483" "0" "10" "16" "88904086" "88904086" "subst" "0.0457045" "01943" "GALNS_000022" "g.88904086A>G" "" "" "" "GALNS(NM_000512.4):c.510T>C (p.Y170=), GALNS(NM_000512.5):c.510T>C (p.(Tyr170=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88837678A>G" "" "benign" "" "0000254260" "0" "30" "16" "88904170" "88904170" "subst" "0.000903034" "01943" "GALNS_000024" "g.88904170A>G" "" "" "" "GALNS(NM_000512.4):c.426T>C (p.H142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88837762A>G" "" "likely benign" "" "0000261020" "0" "30" "16" "88876299" "88876299" "subst" "0.0040121" "02326" "APRT_000002" "g.88876299G>A" "" "" "" "APRT(NM_000485.3):c.401-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809891G>A" "" "likely benign" "" "0000262727" "0" "50" "16" "88878225" "88878225" "subst" "0" "01943" "APRT_000003" "g.88878225C>T" "" "" "" "APRT(NM_000485.2):c.80+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88811817C>T" "" "VUS" "" "0000280982" "0" "90" "16" "88891261" "88891261" "subst" "8.58594E-5" "02325" "GALNS_000006" "g.88891261G>A" "" "" "" "GALNS(NM_000512.4):c.1156C>T (p.R386C), GALNS(NM_000512.5):c.1156C>T (p.R386C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88824853G>A" "" "pathogenic" "" "0000280983" "0" "10" "16" "88884466" "88884466" "subst" "0.406035" "02325" "GALNS_000001" "g.88884466C>T" "" "" "" "GALNS(NM_000512.4):c.1431G>A (p.E477=), GALNS(NM_000512.5):c.1431G>A (p.E477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88818058C>T" "" "benign" "" "0000280984" "0" "10" "16" "88908306" "88908306" "subst" "0.018441" "02325" "GALNS_000027" "g.88908306G>A" "" "" "" "GALNS(NM_000512.5):c.318C>T (p.N106=), GALNS(NM_001323543.2):c.-238C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88841898G>A" "" "benign" "" "0000280985" "0" "90" "16" "88907485" "88907485" "subst" "4.066E-5" "02325" "GALNS_000025" "g.88907485T>A" "" "" "" "GALNS(NM_000512.5):c.337A>T (p.I113F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88841077T>A" "" "pathogenic" "" "0000280986" "0" "10" "16" "88902277" "88902277" "subst" "0.0981415" "02325" "GALNS_000019" "g.88902277G>A" "" "" "" "GALNS(NM_000512.4):c.634-20C>T, GALNS(NM_000512.5):c.634-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835869G>A" "" "benign" "" "0000280987" "0" "90" "16" "88898507" "88898507" "subst" "4.9132E-5" "02325" "GALNS_000009" "g.88898507C>A" "" "" "" "GALNS(NM_000512.5):c.901G>T (p.(Gly301Cys), p.G301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88832099C>A" "" "pathogenic" "" "0000288180" "0" "90" "16" "88893230" "88893230" "subst" "0" "01943" "GALNS_000008" "g.88893230C>T" "" "" "" "GALNS(NM_000512.4):c.1019G>A (p.G340D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88826822C>T" "" "pathogenic" "" "0000288181" "0" "90" "16" "88893219" "88893219" "subst" "0" "01943" "GALNS_000007" "g.88893219C>T" "" "" "" "GALNS(NM_000512.4):c.1030G>A (p.D344N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88826811C>T" "" "pathogenic" "" "0000288182" "0" "30" "16" "88923175" "88923175" "subst" "0" "01943" "GALNS_000030" "g.88923175G>A" "" "" "" "GALNS(NM_000512.4):c.111C>T (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88856767G>A" "" "likely benign" "" "0000288183" "0" "70" "16" "88891261" "88891261" "subst" "8.58594E-5" "01943" "GALNS_000006" "g.88891261G>A" "" "" "" "GALNS(NM_000512.4):c.1156C>T (p.R386C), GALNS(NM_000512.5):c.1156C>T (p.R386C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88824853G>A" "" "likely pathogenic" "" "0000288184" "0" "50" "16" "88891257" "88891257" "subst" "0" "01943" "GALNS_000005" "g.88891257C>A" "" "" "" "GALNS(NM_000512.4):c.1160G>T (p.G387V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88824849C>A" "" "VUS" "" "0000288185" "0" "50" "16" "88891240" "88891240" "subst" "0.0618024" "01943" "GALNS_000004" "g.88891240C>A" "" "" "" "GALNS(NM_000512.4):c.1177G>T (p.A393S), GALNS(NM_000512.5):c.1177G>T (p.A393S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88824832C>A" "" "VUS" "" "0000288186" "0" "90" "16" "88891222" "88891222" "del" "0" "01943" "GALNS_000003" "g.88891222del" "" "" "" "GALNS(NM_000512.4):c.1196delA (p.K399Rfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88824814del" "" "pathogenic" "" "0000288187" "0" "10" "16" "88884466" "88884466" "subst" "0.406035" "01943" "GALNS_000001" "g.88884466C>T" "" "" "" "GALNS(NM_000512.4):c.1431G>A (p.E477=), GALNS(NM_000512.5):c.1431G>A (p.E477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88818058C>T" "" "benign" "" "0000288188" "0" "10" "16" "88909159" "88909159" "subst" "0.0233939" "01943" "GALNS_000029" "g.88909159G>T" "" "" "" "GALNS(NM_000512.4):c.199C>A (p.L67M, p.(Leu67Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88842751G>T" "" "benign" "" "0000288189" "0" "10" "16" "88909095" "88909095" "subst" "0.147819" "01943" "GALNS_000028" "g.88909095G>A" "" "" "" "GALNS(NM_000512.4):c.244+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88842687G>A" "" "benign" "" "0000288190" "0" "70" "16" "88907490" "88907490" "subst" "0" "01943" "GALNS_000026" "g.88907490T>C" "" "" "" "GALNS(NM_000512.4):c.332A>G (p.Q111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88841082T>C" "" "likely pathogenic" "" "0000288191" "0" "10" "16" "88902643" "88902643" "subst" "0.0104989" "01943" "GALNS_000020" "g.88902643G>A" "" "" "" "GALNS(NM_000512.4):c.599C>T (p.T200M, p.(Thr200Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88836235G>A" "" "benign" "" "0000288192" "0" "10" "16" "88902276" "88902276" "subst" "0.270466" "01943" "GALNS_000018" "g.88902276C>T" "" "" "" "GALNS(NM_000512.4):c.634-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835868C>T" "" "benign" "" "0000288193" "0" "10" "16" "88902277" "88902277" "subst" "0.0981415" "01943" "GALNS_000019" "g.88902277G>A" "" "" "" "GALNS(NM_000512.4):c.634-20C>T, GALNS(NM_000512.5):c.634-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835869G>A" "" "benign" "" "0000288194" "0" "10" "16" "88902199" "88902199" "subst" "0.0519604" "01943" "GALNS_000017" "g.88902199G>C" "" "" "" "GALNS(NM_000512.4):c.692C>G (p.A231G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835791G>C" "" "benign" "" "0000288195" "0" "10" "16" "88902183" "88902183" "subst" "0.279629" "01943" "GALNS_000016" "g.88902183G>A" "" "" "" "GALNS(NM_000512.4):c.708C>T (p.H236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835775G>A" "" "benign" "" "0000288196" "0" "10" "16" "88902168" "88902168" "subst" "0.00729571" "01943" "GALNS_000015" "g.88902168G>A" "" "" "" "GALNS(NM_000512.4):c.723C>T (p.A241=), GALNS(NM_000512.5):c.723C>T (p.(Ala241=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835760G>A" "" "benign" "" "0000288197" "0" "70" "16" "88902151" "88902151" "subst" "2.84407E-5" "01943" "GALNS_000014" "g.88902151C>T" "" "" "" "GALNS(NM_000512.4):c.740G>A (p.G247D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835743C>T" "" "likely pathogenic" "" "0000288198" "0" "10" "16" "88902111" "88902111" "subst" "0.0519993" "01943" "GALNS_000012" "g.88902111G>A" "" "" "" "GALNS(NM_000512.4):c.758+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835703G>A" "" "benign" "" "0000288199" "0" "10" "16" "88901673" "88901673" "subst" "0.0457872" "01943" "GALNS_000011" "g.88901673G>A" "" "" "" "GALNS(NM_000512.4):c.846C>T (p.F282=), GALNS(NM_000512.5):c.846C>T (p.(Phe282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835265G>A" "" "benign" "" "0000288200" "0" "10" "16" "88901596" "88901596" "subst" "0.0540999" "01943" "GALNS_000010" "g.88901596G>C" "" "" "" "GALNS(NM_000512.4):c.898+25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835188G>C" "" "benign" "" "0000324998" "0" "50" "16" "88876121" "88876121" "subst" "1.22017E-5" "01804" "APRT_000001" "g.88876121G>A" "" "" "" "APRT(NM_000485.2):c.528C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88809713G>A" "" "VUS" "" "0000325000" "0" "30" "16" "88902130" "88902130" "subst" "7.31469E-5" "01804" "GALNS_000013" "g.88902130C>T" "" "" "" "GALNS(NM_000512.4):c.758+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88835722C>T" "" "likely benign" "" "0000325002" "0" "30" "16" "88904097" "88904097" "subst" "0.00101937" "01804" "GALNS_000023" "g.88904097A>C" "" "" "" "GALNS(NM_000512.4):c.499T>G (p.(Phe167Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88837689A>C" "" "likely benign" "" "0000325003" "0" "30" "16" "88908306" "88908306" "subst" "0.018441" "01804" "GALNS_000027" "g.88908306G>A" "" "" "" "GALNS(NM_000512.5):c.318C>T (p.N106=), GALNS(NM_001323543.2):c.-238C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88841898G>A" "" "likely benign" "" "0000344859" "0" "50" "16" "88884476" "88884476" "subst" "0" "02327" "GALNS_000031" "g.88884476T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88818068T>G" "" "VUS" "" "0000559731" "0" "30" "16" "88876120" "88876120" "subst" "0.000345728" "01804" "APRT_000014" "g.88876120G>A" "" "" "" "APRT(NM_000485.2):c.529C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88809712G>A" "" "likely benign" "" "0000559734" "0" "70" "16" "88880929" "88880929" "subst" "0" "01943" "APRT_000017" "g.88880929C>T" "" "" "" "GALNS(NM_001323544.1):c.1505G>A (p.W502*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88814521C>T" "" "likely pathogenic" "" "0000559735" "0" "30" "16" "88884435" "88884435" "subst" "0.00402839" "01804" "GALNS_000032" "g.88884435C>T" "" "" "" "GALNS(NM_000512.4):c.1462G>A (p.(Val488Met)), GALNS(NM_000512.5):c.1462G>A (p.V488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88818027C>T" "" "likely benign" "" "0000559736" "0" "30" "16" "88884521" "88884521" "subst" "0.00873125" "01804" "GALNS_000033" "g.88884521G>A" "" "" "" "GALNS(NM_000512.5):c.1376C>T (p.(Ala459Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88818113G>A" "" "likely benign" "" "0000559737" "0" "30" "16" "88901744" "88901744" "subst" "0.00447893" "01943" "GALNS_000034" "g.88901744G>T" "" "" "" "GALNS(NM_001323544.1):c.793C>A (p.R265=), GALNS(NM_001323544.2):c.793C>A (p.R265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88835336G>T" "" "likely benign" "" "0000559738" "0" "10" "16" "88902643" "88902643" "subst" "0.0104989" "01804" "GALNS_000020" "g.88902643G>A" "" "" "" "GALNS(NM_000512.4):c.599C>T (p.T200M, p.(Thr200Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88836235G>A" "" "benign" "" "0000559739" "0" "30" "16" "88909159" "88909159" "subst" "0.0233939" "01804" "GALNS_000029" "g.88909159G>T" "" "" "" "GALNS(NM_000512.4):c.199C>A (p.L67M, p.(Leu67Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88842751G>T" "" "likely benign" "" "0000559740" "0" "30" "16" "88909446" "88909446" "subst" "0" "01943" "GALNS_000035" "g.88909446C>T" "" "" "" "GALNS(NM_001323544.1):c.130G>A (p.D44N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88843038C>T" "" "likely benign" "" "0000559744" "0" "90" "16" "88923592" "88923592" "subst" "0" "02326" "GALNS_000036" "g.88923592G>A" "" "" "" "TRAPPC2L(NM_016209.5):c.33+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88857184G>A" "" "pathogenic" "" "0000559745" "0" "30" "16" "88925057" "88925057" "subst" "0" "01804" "GALNS_000037" "g.88925057A>G" "" "" "" "TRAPPC2L(NM_016209.3):c.64A>G (p.(Thr22Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858649A>G" "" "likely benign" "" "0000559746" "0" "30" "16" "88925138" "88925138" "subst" "0" "01804" "GALNS_000038" "g.88925138G>T" "" "" "" "TRAPPC2L(NM_016209.3):c.145G>T (p.(Ala49Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88858730G>T" "" "likely benign" "" "0000559747" "0" "30" "16" "88926356" "88926356" "subst" "4.32717E-6" "01804" "GALNS_000039" "g.88926356A>G" "" "" "" "TRAPPC2L(NM_016209.3):c.350A>G (p.(Asn117Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859948A>G" "" "likely benign" "" "0000559749" "0" "50" "16" "88930700" "88930700" "del" "0" "01943" "GALNS_000041" "g.88930700del" "" "" "" "PABPN1L(NM_001080487.2):c.743delT (p.F248Sfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864292del" "" "VUS" "" "0000559750" "0" "50" "16" "88930701" "88930701" "subst" "0" "01943" "GALNS_000042" "g.88930701G>C" "" "" "" "PABPN1L(NM_001294328.1):c.653C>G (p.P218R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864293G>C" "" "VUS" "" "0000559751" "0" "30" "16" "88930705" "88930705" "subst" "0.000474821" "01943" "GALNS_000043" "g.88930705G>C" "" "" "" "PABPN1L(NM_001080487.2):c.737C>G (p.A246G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88864297G>C" "" "likely benign" "" "0000616239" "0" "30" "16" "88884459" "88884459" "subst" "0.00128929" "01804" "GALNS_000044" "g.88884459C>A" "" "" "" "GALNS(NM_000512.4):c.1438G>T (p.(Val480Phe)), GALNS(NM_001323544.2):c.1456G>T (p.V486F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88818051C>A" "" "likely benign" "" "0000616240" "0" "10" "16" "88884459" "88884459" "subst" "0.00128929" "02325" "GALNS_000044" "g.88884459C>A" "" "" "" "GALNS(NM_000512.4):c.1438G>T (p.(Val480Phe)), GALNS(NM_001323544.2):c.1456G>T (p.V486F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88818051C>A" "" "benign" "" "0000616241" "0" "50" "16" "88901743" "88901743" "subst" "2.85551E-5" "02325" "GALNS_000045" "g.88901743C>T" "" "" "" "GALNS(NM_001323544.2):c.794G>A (p.R265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88835335C>T" "" "VUS" "" "0000616242" "0" "30" "16" "88926368" "88926402" "dup" "0" "01804" "GALNS_000047" "g.88926368_88926402dup" "" "" "" "TRAPPC2L(NM_016209.3):c.361_362insGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT (p.(Ser125ArgfsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88859960_88859994dup" "" "likely benign" "" "0000623570" "0" "50" "16" "88901744" "88901744" "subst" "4.07917E-6" "01943" "GALNS_000046" "g.88901744G>A" "" "" "" "GALNS(NM_001323544.1):c.793C>T (p.R265W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88835336G>A" "" "VUS" "" "0000649437" "1" "70" "16" "88891261" "88891261" "subst" "8.58594E-5" "03575" "GALNS_000006" "g.88891261G>A" "1/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118204437}" "Germline" "" "rs118204437" "0" "" "" "g.88824853G>A" "" "likely pathogenic" "" "0000649438" "1" "70" "16" "88902187" "88902187" "subst" "4.06161E-6" "03575" "GALNS_000048" "g.88902187G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs398123440}" "Germline" "" "rs398123440" "0" "" "" "g.88835779G>T" "" "likely pathogenic" "" "0000649439" "1" "90" "16" "88904111" "88904111" "subst" "8.12288E-6" "03575" "GALNS_000049" "g.88904111G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs118204444}" "Germline" "" "rs118204444" "0" "" "" "g.88837703G>A" "" "pathogenic" "" "0000649440" "1" "50" "16" "88908306" "88908306" "subst" "0.018441" "03575" "GALNS_000027" "g.88908306G>A" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs34278797}" "Germline" "" "rs34278797" "0" "" "" "g.88841898G>A" "" "VUS" "" "0000680726" "0" "30" "16" "88901744" "88901744" "subst" "0.00447893" "02325" "GALNS_000034" "g.88901744G>T" "" "" "" "GALNS(NM_001323544.1):c.793C>A (p.R265=), GALNS(NM_001323544.2):c.793C>A (p.R265=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680727" "0" "30" "16" "88909462" "88909462" "subst" "0" "01943" "GALNS_000050" "g.88909462C>T" "" "" "" "GALNS(NM_001323544.1):c.114G>A (p.S38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680728" "0" "50" "16" "88923239" "88923239" "subst" "0" "01943" "GALNS_000051" "g.88923239A>C" "" "" "" "GALNS(NM_000512.4):c.47T>G (p.V16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684798" "0" "30" "16" "88884435" "88884435" "subst" "0.00402839" "00004" "GALNS_000032" "g.88884435C>T" "frequency 0.094" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.88818027C>T" "" "likely benign" "" "0000692201" "0" "50" "16" "88889081" "88889081" "subst" "4.07219E-6" "01804" "GALNS_000052" "g.88889081A>C" "" "" "" "GALNS(NM_000512.4):c.1280T>G (p.(Val427Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729958" "3" "90" "16" "88907476" "88907476" "subst" "8.13008E-6" "00000" "GALNS_000054" "g.88907476C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000512.4:c.346G>A:p.(Gly116Ser)" "" "Germline" "" "" "0" "" "" "g.88841068C>T" "" "pathogenic (recessive)" "" "0000729959" "3" "90" "16" "88907476" "88907476" "subst" "8.13008E-6" "00000" "GALNS_000054" "g.88907476C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000512.4:c.346G>A:p.(Gly116Ser)" "" "Germline" "" "" "0" "" "" "g.88841068C>T" "" "pathogenic (recessive)" "" "0000729960" "3" "90" "16" "88898409" "88902678" "dup" "0" "00000" "GALNS_000053" "g.88898409_88902678dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000512.4:c.567_1002dup:p.(Val335Ilefs*3)" "" "Germline" "" "" "0" "" "" "g.88832001_88836270dup" "" "likely pathogenic (recessive)" "" "0000807698" "0" "50" "16" "88889114" "88889114" "subst" "0.000900644" "01943" "GALNS_000055" "g.88889114A>G" "" "" "" "GALNS(NM_001323544.1):c.1265T>C (p.I422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807699" "0" "30" "16" "88901686" "88901686" "subst" "6.58919E-5" "01804" "GALNS_000056" "g.88901686G>A" "" "" "" "GALNS(NM_000512.4):c.833C>T (p.(Ala278Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807700" "0" "30" "16" "88908321" "88908321" "subst" "0.000210224" "01943" "GALNS_000057" "g.88908321G>A" "" "" "" "GALNS(NM_001323544.1):c.321C>T (p.N107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807701" "0" "30" "16" "88909241" "88909241" "subst" "0.000208577" "01804" "GALNS_000058" "g.88909241C>T" "" "" "" "GALNS(NM_000512.4):c.121-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815011" "1" "70" "16" "88909268" "88909268" "subst" "0" "00006" "GALNS_000061" "g.88909268A>G" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.88842860A>G" "" "likely pathogenic" "" "0000815014" "1" "70" "16" "88891261" "88891261" "subst" "8.58594E-5" "00006" "GALNS_000006" "g.88891261G>A" "" "{PMID:Prasad 2016:26502894}" "" "" "no variant on 2nd chromosome" "De novo" "" "" "0" "" "" "g.88824853G>A" "" "likely pathogenic" "" "0000815021" "2" "70" "16" "88898473" "88898473" "subst" "2.03585E-5" "00006" "GALNS_000059" "g.88898473G>C" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "g.88832065G>C" "" "likely pathogenic" "" "0000815866" "3" "70" "16" "88901620" "88901620" "subst" "0" "00006" "GALNS_000060" "g.88901620C>T" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "rs761850746" "0" "" "" "g.88835212C>T" "" "likely pathogenic" "" "0000839724" "0" "70" "16" "88891280" "88891280" "subst" "0" "02404" "GALNS_000062" "g.88891280G>C" "" "{PMID:Lin 2023:38031187}, {DOI:Lin 2023:10.1186/s13073-023-01258-4}" "" "" "" "Germline" "?" "" "0" "" "" "g.88824872G>C" "" "likely pathogenic (recessive)" "ACMG" "0000854706" "0" "70" "16" "88876191" "88876191" "subst" "1.62873E-5" "02326" "APRT_000074" "g.88876191C>T" "" "" "" "APRT(NM_000485.3):c.458G>A (p.C153Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865000" "0" "30" "16" "88893122" "88893122" "subst" "0.00175566" "01804" "GALNS_000063" "g.88893122C>T" "" "" "" "GALNS(NM_000512.4):c.1127G>A (p.(Arg376Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865001" "0" "30" "16" "88898513" "88898513" "subst" "0.0017591" "01804" "GALNS_000064" "g.88898513G>C" "" "" "" "GALNS(NM_000512.4):c.899-4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881180" "3" "90" "16" "88902172" "88902172" "subst" "8.12381E-6" "02300" "GALNS_000065" "g.88902172T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5" "Germline" "" "rs752039956" "0" "" "" "g.88835764T>C" "" "pathogenic (recessive)" "ACMG" "0000893227" "0" "50" "16" "88907509" "88907509" "subst" "2.0357E-5" "01804" "GALNS_000066" "g.88907509G>A" "" "" "" "GALNS(NM_000512.4):c.320-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909976" "1" "90" "16" "88902179" "88902179" "del" "0" "00006" "GALNS_000067" "g.88902179del" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.88835771del" "" "pathogenic (recessive)" "" "0000909977" "2" "90" "16" "88904097" "88904097" "subst" "0.00101937" "00006" "GALNS_000023" "g.88904097A>C" "" "{PMID:Hiatt 2023:36586412}, {DOI:Hiatt 2023:10.1016/j.ajhg.2022.12.007}" "" "" "variant has reduced enzyme activity (PMID:1786718), authors concluded the biallelic combination of strong LOF and p.(F167V) may lead to mild features MPS4A" "Germline" "" "" "0" "" "" "g.88837689A>C" "" "pathogenic (!)" "" "0000914711" "0" "30" "16" "88878055" "88878055" "subst" "0.00256337" "02326" "APRT_000076" "g.88878055C>A" "" "" "" "APRT(NM_000485.3):c.90G>T (p.S30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926368" "0" "30" "16" "88926026" "88926026" "subst" "0.0211367" "01804" "GALNS_000068" "g.88926026C>T" "" "" "" "TRAPPC2L(NM_001318524.1):c.207-45C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930668" "0" "30" "16" "88901632" "88901632" "subst" "0.000267424" "01804" "GALNS_000069" "g.88901632G>A" "" "" "" "GALNS(NM_000512.4):c.887C>T (p.(Ala296Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930669" "0" "30" "16" "88907463" "88907463" "subst" "0.00107306" "01804" "GALNS_000070" "g.88907463G>A" "" "" "" "GALNS(NM_000512.4):c.359C>T (p.(Ser120Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950763" "0" "30" "16" "88876886" "88876886" "subst" "0.000894609" "02326" "APRT_000016" "g.88876886C>T" "" "" "" "APRT(NM_000485.3):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950764" "0" "30" "16" "88909567" "88909567" "subst" "0" "01804" "GALNS_000072" "g.88909567C>T" "" "" "" "GALNS(NM_001323544.1):c.9G>A (p.(Met3Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982183" "0" "30" "16" "88876813" "88876813" "subst" "1.66142E-5" "02326" "APRT_000081" "g.88876813C>T" "" "" "" "APRT(NM_000485.3):c.321+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982184" "0" "10" "16" "88901673" "88901673" "subst" "0.0457872" "01804" "GALNS_000011" "g.88901673G>A" "" "" "" "GALNS(NM_000512.4):c.846C>T (p.F282=), GALNS(NM_000512.5):c.846C>T (p.(Phe282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982185" "0" "30" "16" "88902168" "88902168" "subst" "0.00729571" "01804" "GALNS_000015" "g.88902168G>A" "" "" "" "GALNS(NM_000512.4):c.723C>T (p.A241=), GALNS(NM_000512.5):c.723C>T (p.(Ala241=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982186" "0" "10" "16" "88904086" "88904086" "subst" "0.0457045" "01804" "GALNS_000022" "g.88904086A>G" "" "" "" "GALNS(NM_000512.4):c.510T>C (p.Y170=), GALNS(NM_000512.5):c.510T>C (p.(Tyr170=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982187" "0" "30" "16" "88909445" "88909445" "subst" "0" "01804" "GALNS_000076" "g.88909445T>C" "" "" "" "GALNS(NM_001323544.2):c.131A>G (p.(Asp44Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982188" "0" "30" "16" "88909447" "88909447" "subst" "0" "01804" "GALNS_000077" "g.88909447G>A" "" "" "" "GALNS(NM_001323544.2):c.129C>T (p.(Gly43=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982189" "0" "30" "16" "88909448" "88909448" "subst" "0" "01804" "GALNS_000078" "g.88909448C>A" "" "" "" "GALNS(NM_001323544.2):c.128G>T (p.(Gly43Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982190" "0" "30" "16" "88909494" "88909494" "subst" "0" "01804" "GALNS_000079" "g.88909494T>G" "" "" "" "GALNS(NM_001323544.2):c.82A>C (p.(Thr28Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982191" "0" "50" "16" "88909506" "88909506" "subst" "0" "01804" "GALNS_000080" "g.88909506A>C" "" "" "" "GALNS(NM_001323544.2):c.70T>G (p.(Trp24Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982192" "0" "70" "16" "88923593" "88923593" "subst" "0" "01804" "GALNS_000081" "g.88923593T>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.33+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982193" "0" "30" "16" "88925164" "88925164" "subst" "7.32082E-5" "01804" "GALNS_000082" "g.88925164C>T" "" "" "" "TRAPPC2L(NM_001318526.2):c.53C>T (p.(Thr18Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982194" "0" "50" "16" "88926010" "88926010" "subst" "4.06689E-6" "01804" "GALNS_000083" "g.88926010A>G" "" "" "" "TRAPPC2L(NM_001318527.2):c.53A>G (p.(His18Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982195" "0" "50" "16" "88927347" "88927347" "subst" "0" "01804" "GALNS_000084" "g.88927347A>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.400A>G (p.(Met134Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002728" "0" "30" "16" "88893182" "88893182" "subst" "0" "01804" "GALNS_000085" "g.88893182G>A" "" "" "" "GALNS(NM_000512.4):c.1067C>T (p.(Thr356Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002729" "0" "90" "16" "88901635" "88901635" "subst" "2.84061E-5" "01804" "GALNS_000086" "g.88901635G>A" "" "" "" "GALNS(NM_000512.4):c.884C>T (p.(Ser295Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001008519" "0" "50" "16" "88880903" "88880903" "subst" "5.50095E-5" "03779" "GALNS_000087" "g.88880903C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs761539025" "0" "" "" "" "" "VUS" "" "0001011317" "3" "70" "16" "88898459" "88898459" "subst" "4.07163E-6" "00006" "GALNS_000088" "g.88898459C>T" "" "{PMID:Pollard 2016:22976768}" "" "" "" "Germline" "" "" "0" "" "" "g.88832051C>T" "" "likely pathogenic (recessive)" "" "0001011318" "1" "90" "16" "88898459" "88898459" "dup" "0" "00006" "GALNS_000089" "g.88898459dup" "" "{PMID:Pollard 2016:22976768}" "" "951dupG" "" "Germline" "" "" "0" "" "" "g.88832051dup" "" "pathogenic (recessive)" "" "0001011359" "2" "90" "16" "88891261" "88891261" "subst" "8.58594E-5" "00006" "GALNS_000006" "g.88891261G>A" "" "{PMID:Pollard 2016:22976768}" "" "" "" "Germline" "" "" "0" "" "" "g.88824853G>A" "" "pathogenic (recessive)" "" "0001012451" "1" "50" "16" "88893122" "88893122" "subst" "0.00175566" "00006" "GALNS_000063" "g.88893122C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.88826714C>T" "" "VUS" "" "0001012773" "1" "90" "16" "88909177" "88909177" "subst" "4.51426E-5" "00006" "GALNS_000099" "g.88909177G>A" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88842769G>A" "" "pathogenic (recessive)" "" "0001012774" "1" "90" "16" "88904124" "88904124" "subst" "0" "00006" "GALNS_000098" "g.88904124C>A" "" "{PMID:Fang 2022:34813777}" "" "" "ACMG PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.88837716C>A" "" "pathogenic (recessive)" "" "0001012775" "1" "90" "16" "88902185" "88902185" "subst" "0" "00006" "GALNS_000096" "g.88902185G>C" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88835777G>C" "" "pathogenic (recessive)" "" "0001012776" "1" "90" "16" "88893150" "88893150" "subst" "0" "00006" "GALNS_000094" "g.88893150T>A" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88826742T>A" "" "pathogenic (recessive)" "" "0001012777" "1" "90" "16" "88884427" "88884427" "subst" "0" "00006" "GALNS_000091" "g.88884427G>T" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88818019G>T" "" "pathogenic (recessive)" "" "0001012778" "1" "50" "16" "88904025" "88904025" "subst" "0.00364327" "00006" "GALNS_000021" "g.88904025A>G" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88837617A>G" "" "VUS" "" "0001012793" "2" "90" "16" "88891219" "88891219" "subst" "0" "00006" "GALNS_000093" "g.88891219C>G" "" "{PMID:Fang 2022:34813777}" "" "" "ACMG PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.88824811C>G" "" "pathogenic (recessive)" "" "0001012794" "2" "90" "16" "88904105" "88904105" "subst" "2.03118E-5" "00006" "GALNS_000097" "g.88904105T>G" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88837697T>G" "" "pathogenic (recessive)" "" "0001012795" "2" "90" "16" "88891261" "88891261" "subst" "8.58594E-5" "00006" "GALNS_000006" "g.88891261G>A" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88824853G>A" "" "pathogenic (recessive)" "" "0001012796" "2" "90" "16" "88891203" "88891203" "subst" "0" "00006" "GALNS_000092" "g.88891203C>T" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88824795C>T" "" "pathogenic (recessive)" "" "0001012797" "2" "90" "16" "88884414" "88909238" "del" "0" "00006" "GALNS_000090" "g.(88880934_88884414)_(88909238_88923165)del" "" "{PMID:Fang 2022:34813777}" "" "del ex2-13" "" "Germline" "" "" "0" "" "" "g.(88814526_88818006)_(88842830_88856757)del" "" "pathogenic (recessive)" "" "0001012798" "2" "90" "16" "88898434" "88898434" "subst" "0" "00006" "GALNS_000095" "g.88898434C>T" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.88832026C>T" "" "pathogenic (recessive)" "" "0001026791" "0" "30" "16" "88877983" "88877983" "subst" "0.00285642" "02326" "APRT_000086" "g.88877983G>A" "" "" "" "APRT(NM_000485.3):c.162C>T (p.H54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026792" "0" "30" "16" "88884435" "88884435" "subst" "0.00402839" "02325" "GALNS_000032" "g.88884435C>T" "" "" "" "GALNS(NM_000512.4):c.1462G>A (p.(Val488Met)), GALNS(NM_000512.5):c.1462G>A (p.V488M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026793" "0" "30" "16" "88891240" "88891240" "subst" "0.0618024" "02325" "GALNS_000004" "g.88891240C>A" "" "" "" "GALNS(NM_000512.4):c.1177G>T (p.A393S), GALNS(NM_000512.5):c.1177G>T (p.A393S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041457" "0" "30" "16" "88889083" "88889083" "subst" "0.00267123" "01804" "GALNS_000100" "g.88889083C>A" "" "" "" "GALNS(NM_000512.5):c.1278G>T (p.(Gly426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041458" "0" "90" "16" "88898507" "88898507" "subst" "4.9132E-5" "01804" "GALNS_000009" "g.88898507C>A" "" "" "" "GALNS(NM_000512.5):c.901G>T (p.(Gly301Cys), p.G301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041459" "0" "30" "16" "88901661" "88901661" "subst" "0.000595532" "01804" "GALNS_000101" "g.88901661C>T" "" "" "" "GALNS(NM_000512.5):c.858G>A (p.(Thr286=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041460" "0" "70" "16" "88902143" "88902143" "subst" "0" "01804" "GALNS_000102" "g.88902143G>A" "" "" "" "GALNS(NM_000512.5):c.748C>T (p.(Gln250*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041461" "0" "50" "16" "88902182" "88902182" "subst" "3.24934E-5" "01804" "GALNS_000103" "g.88902182C>T" "" "" "" "GALNS(NM_000512.5):c.709G>A (p.(Ala237Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041462" "0" "30" "16" "88909118" "88909118" "subst" "0.00383172" "01804" "GALNS_000104" "g.88909118C>T" "" "" "" "GALNS(NM_000512.5):c.240G>A (p.(Ser80=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041463" "0" "50" "16" "88925169" "88925169" "subst" "0" "01804" "GALNS_000105" "g.88925169G>A" "" "" "" "TRAPPC2L(NM_001318525.2):c.176G>A (p.(Gly59Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041464" "0" "50" "16" "88925196" "88925196" "subst" "0.000151233" "01804" "GALNS_000106" "g.88925196A>G" "" "" "" "TRAPPC2L(NM_001318525.2):c.203A>G (p.(Lys68Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041465" "0" "50" "16" "88926367" "88926367" "subst" "0" "01804" "GALNS_000107" "g.88926367C>T" "" "" "" "TRAPPC2L(NM_001318525.2):c.361C>T (p.(Arg121Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049806" "0" "90" "16" "88909268" "88909268" "subst" "0" "03779" "GALNS_000061" "g.88909268A>G" "" "" "" "" "" "Unknown" "" "rs776895500" "0" "" "" "" "" "pathogenic" "" "0001055717" "0" "10" "16" "88884454" "88884454" "subst" "0.00307568" "01804" "GALNS_000108" "g.88884454G>A" "" "" "" "GALNS(NM_000512.5):c.1443C>T (p.(Pro481=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055718" "0" "50" "16" "88891187" "88891187" "subst" "0" "01804" "GALNS_000109" "g.88891187C>G" "" "" "" "GALNS(NM_000512.5):c.1230G>C (p.(Glu410Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055719" "0" "50" "16" "88909490" "88909490" "subst" "0" "01804" "GALNS_000110" "g.88909490G>A" "" "" "" "GALNS(NM_001323544.2):c.86C>T (p.(Ala29Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059646" "3" "70" "16" "88904034" "88904034" "subst" "0" "00006" "GALNS_000118" "g.88904034C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88837626C>T" "SCV002507142.1" "likely pathogenic (recessive)" "" "0001059647" "3" "70" "16" "88889075" "88889075" "subst" "8.14352E-6" "00006" "GALNS_000114" "g.88889075G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88822667G>A" "SCV002054013.1" "likely pathogenic (recessive)" "" "0001059648" "11" "70" "16" "88909177" "88909177" "subst" "4.51426E-5" "00006" "GALNS_000099" "g.88909177G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88842769G>A" "SCV002507153.1" "likely pathogenic" "" "0001059649" "3" "70" "16" "88909123" "88909123" "subst" "8.21456E-6" "00006" "GALNS_000120" "g.88909123A>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88842715A>G" "SCV002567971.1" "likely pathogenic (recessive)" "" "0001059650" "3" "70" "16" "88909177" "88909177" "subst" "4.51426E-5" "00006" "GALNS_000099" "g.88909177G>A" "" "{PMID:Jacob 2025:39706863}" "" "(Gly188Ser)" "" "Germline" "" "" "0" "" "" "g.88842769G>A" "SCV002507153.1" "likely pathogenic (recessive)" "" "0001059651" "3" "70" "16" "88923191" "88923191" "subst" "0" "00006" "GALNS_000122" "g.88923191T>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88856783T>G" "SCV002507188.1" "likely pathogenic (recessive)" "" "0001059652" "1" "50" "16" "88917051" "88917051" "subst" "0" "00006" "GALNS_000111" "g.88917051T>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88850643T>A" "" "VUS" "" "0001059653" "11" "70" "16" "88884452" "88884452" "subst" "0" "00006" "GALNS_000113" "g.88884452G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88818044G>A" "SCV002507180.1" "likely pathogenic (recessive)" "" "0001059654" "21" "70" "16" "88923191" "88923191" "subst" "0" "00006" "GALNS_000122" "g.88923191T>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88856783T>G" "SCV002507188.1" "likely pathogenic (recessive)" "" "0001059655" "11" "70" "16" "88909219" "88909219" "subst" "1.63343E-5" "00006" "GALNS_000121" "g.88909219C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88842811C>T" "SCV002507159.1" "likely pathogenic (recessive)" "" "0001059717" "21" "70" "16" "88901728" "88901728" "subst" "0" "00006" "GALNS_000116" "g.88901728C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88835320C>T" "SCV002507163.1" "likely pathogenic (recessive)" "" "0001059718" "2" "50" "16" "88912871" "88912871" "subst" "0" "00006" "GALNS_000112" "g.88912871G>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88846463G>C" "" "VUS" "" "0001059719" "21" "70" "16" "88902671" "88902671" "subst" "0" "00006" "GALNS_000117" "g.88902671A>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88836263A>C" "SCV002507181.1" "likely pathogenic (recessive)" "" "0001059720" "11" "70" "16" "88907407" "88907407" "subst" "1.21912E-5" "00006" "GALNS_000119" "g.88907407C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88840999C>T" "SCV002507190.1" "likely pathogenic (recessive)" "" "0001059721" "21" "70" "16" "88898422" "88898422" "subst" "6.12555E-5" "00006" "GALNS_000115" "g.88898422T>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.88832014T>G" "SCV002507160.1" "likely pathogenic (recessive)" "" "0001060870" "0" "50" "16" "88904097" "88904097" "subst" "0.00101937" "00006" "GALNS_000023" "g.88904097A>C" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PM1, PM2, PP3; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.88837689A>C" "" "VUS" "ACMG" "0001066562" "0" "70" "16" "88901669" "88901669" "subst" "0.00022972" "01804" "GALNS_000123" "g.88901669A>C" "" "" "" "GALNS(NM_000512.5):c.850T>G (p.(Phe284Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001066563" "0" "50" "16" "88925206" "88925206" "subst" "0" "01804" "GALNS_000124" "g.88925206T>C" "" "" "" "TRAPPC2L(NM_001318525.2):c.206+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066564" "0" "30" "16" "88926081" "88926081" "subst" "0.000897856" "01804" "GALNS_000125" "g.88926081G>A" "" "" "" "TRAPPC2L(NM_001318525.2):c.217G>A (p.(Val73Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 GALNS ## Count = 157 "{{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}}" "0000253483" "00008319" "10" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(Tyr170=)" "" "0000254260" "00008319" "30" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(His142=)" "" "0000261020" "00008319" "30" "6117" "0" "6117" "0" "c.*4548C>T" "r.(=)" "p.(=)" "" "0000262727" "00008319" "50" "4191" "0" "4191" "0" "c.*2622G>A" "r.(=)" "p.(=)" "" "0000280982" "00008319" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0000280983" "00008319" "10" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Glu477=)" "" "0000280984" "00008319" "10" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Asn106=)" "" "0000280985" "00008319" "90" "337" "0" "337" "0" "c.337A>T" "r.(?)" "p.(Ile113Phe)" "" "0000280986" "00008319" "10" "634" "-20" "634" "-20" "c.634-20C>T" "r.(=)" "p.(=)" "" "0000280987" "00008319" "90" "901" "0" "901" "0" "c.901G>T" "r.(?)" "p.(Gly301Cys)" "" "0000288180" "00008319" "90" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Gly340Asp)" "" "0000288181" "00008319" "90" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Asp344Asn)" "" "0000288182" "00008319" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Leu37=)" "" "0000288183" "00008319" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0000288184" "00008319" "50" "1160" "0" "1160" "0" "c.1160G>T" "r.(?)" "p.(Gly387Val)" "" "0000288185" "00008319" "50" "1177" "0" "1177" "0" "c.1177G>T" "r.(?)" "p.(Ala393Ser)" "" "0000288186" "00008319" "90" "1196" "0" "1196" "0" "c.1196del" "r.(?)" "p.(Lys399ArgfsTer42)" "" "0000288187" "00008319" "10" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Glu477=)" "" "0000288188" "00008319" "10" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Leu67Met)" "" "0000288189" "00008319" "10" "244" "19" "244" "19" "c.244+19C>T" "r.(=)" "p.(=)" "" "0000288190" "00008319" "70" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Gln111Arg)" "" "0000288191" "00008319" "10" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Met)" "" "0000288192" "00008319" "10" "634" "-19" "634" "-19" "c.634-19G>A" "r.(=)" "p.(=)" "" "0000288193" "00008319" "10" "634" "-20" "634" "-20" "c.634-20C>T" "r.(=)" "p.(=)" "" "0000288194" "00008319" "10" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ala231Gly)" "" "0000288195" "00008319" "10" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(His236=)" "" "0000288196" "00008319" "10" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ala241=)" "" "0000288197" "00008319" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0000288198" "00008319" "10" "758" "22" "758" "22" "c.758+22C>T" "r.(=)" "p.(=)" "" "0000288199" "00008319" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Phe282=)" "" "0000288200" "00008319" "10" "898" "25" "898" "25" "c.898+25C>G" "r.(=)" "p.(=)" "" "0000324998" "00008319" "50" "6295" "0" "6295" "0" "c.*4726C>T" "r.(=)" "p.(=)" "" "0000325000" "00008319" "30" "758" "3" "758" "3" "c.758+3G>A" "r.spl?" "p.?" "" "0000325002" "00008319" "30" "499" "0" "499" "0" "c.499T>G" "r.(?)" "p.(Phe167Val)" "" "0000325003" "00008319" "30" "318" "0" "318" "0" "c.318C>T" "r.(?)" "p.(Asn106=)" "" "0000344859" "00008319" "50" "1421" "0" "1421" "0" "c.1421A>C" "r.(?)" "p.(Gln474Pro)" "" "0000559731" "00008319" "30" "6296" "0" "6296" "0" "c.*4727C>T" "r.(=)" "p.(=)" "" "0000559734" "00008319" "70" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Trp496Ter)" "" "0000559735" "00008319" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Val488Met)" "" "0000559736" "00008319" "30" "1376" "0" "1376" "0" "c.1376C>T" "r.(?)" "p.(Ala459Val)" "" "0000559737" "00008319" "30" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Arg259=)" "" "0000559738" "00008319" "10" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Met)" "" "0000559739" "00008319" "30" "199" "0" "199" "0" "c.199C>A" "r.(?)" "p.(Leu67Met)" "" "0000559740" "00008319" "30" "121" "-209" "121" "-209" "c.121-209G>A" "r.(=)" "p.(=)" "" "0000559744" "00008319" "90" "-307" "0" "-307" "0" "c.-307C>T" "r.(?)" "p.(=)" "" "0000559745" "00008319" "30" "-1772" "0" "-1772" "0" "c.-1772T>C" "r.(?)" "p.(=)" "" "0000559746" "00008319" "30" "-1853" "0" "-1853" "0" "c.-1853C>A" "r.(?)" "p.(=)" "" "0000559747" "00008319" "30" "-3071" "0" "-3071" "0" "c.-3071T>C" "r.(?)" "p.(=)" "" "0000559749" "00008319" "50" "-7414" "0" "-7414" "0" "c.-7414del" "r.(?)" "p.(=)" "" "0000559750" "00008319" "50" "-7416" "0" "-7416" "0" "c.-7416C>G" "r.(?)" "p.(=)" "" "0000559751" "00008319" "30" "-7420" "0" "-7420" "0" "c.-7420C>G" "r.(?)" "p.(=)" "" "0000616239" "00008319" "30" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Val480Phe)" "" "0000616240" "00008319" "10" "1438" "0" "1438" "0" "c.1438G>T" "r.(?)" "p.(Val480Phe)" "" "0000616241" "00008319" "50" "776" "0" "776" "0" "c.776G>A" "r.(?)" "p.(Arg259Gln)" "" "0000616242" "00008319" "30" "-3117" "0" "-3083" "0" "c.-3117_-3083dup" "r.(?)" "p.(=)" "" "0000623570" "00008319" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Arg259Trp)" "" "0000649437" "00008319" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0000649438" "00008319" "70" "704" "0" "704" "0" "c.704C>A" "r.(?)" "p.(Thr235Lys)" "" "0000649439" "00008319" "90" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ser162Phe)" "" "0000649440" "00008319" "50" "318" "0" "318" "0" "c.318C>T" "r.(=)" "p.(=)" "" "0000680726" "00008319" "30" "775" "0" "775" "0" "c.775C>A" "r.(?)" "p.(Arg259=)" "" "0000680727" "00008319" "30" "121" "-225" "121" "-225" "c.121-225G>A" "r.(=)" "p.(=)" "" "0000680728" "00008319" "50" "47" "0" "47" "0" "c.47T>G" "r.(?)" "p.(Val16Gly)" "" "0000684798" "00008319" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Val488Met)" "" "0000692201" "00008319" "50" "1280" "0" "1280" "0" "c.1280T>G" "r.(?)" "p.(Val427Gly)" "" "0000729958" "00008319" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Ser)" "" "0000729959" "00008319" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Ser)" "" "0000729960" "00008319" "90" "567" "-3" "999" "0" "c.567-3_999dup" "r.?" "p.?" "" "0000807698" "00008319" "50" "1247" "0" "1247" "0" "c.1247T>C" "r.(?)" "p.(Ile416Thr)" "" "0000807699" "00008319" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Ala278Val)" "" "0000807700" "00008319" "30" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Asn101=)" "" "0000807701" "00008319" "30" "121" "-4" "121" "-4" "c.121-4G>A" "r.spl?" "p.?" "" "0000815011" "00008319" "70" "121" "-31" "121" "-31" "c.121-31T>C" "r.spl?" "p.0?" "" "0000815014" "00008319" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0000815021" "00008319" "70" "935" "0" "935" "0" "c.935C>G" "r.(?)" "p.(Thr312Ser)" "" "0000815866" "00008319" "70" "898" "1" "898" "1" "c.898+1G>A" "r.spl" "p.?" "" "0000839724" "00008319" "70" "1140" "-3" "1140" "-3" "c.1140-3C>G" "r.spl" "p.?" "" "0000854706" "00008319" "70" "6225" "0" "6225" "0" "c.*4656G>A" "r.(=)" "p.(=)" "" "0000865000" "00008319" "30" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Gln)" "" "0000865001" "00008319" "30" "899" "-4" "899" "-4" "c.899-4C>G" "r.spl?" "p.?" "" "0000881180" "00008319" "90" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Tyr240Cys)" "" "0000893227" "00008319" "50" "320" "-7" "320" "-7" "c.320-7C>T" "r.(=)" "p.(=)" "" "0000909976" "00008319" "90" "714" "0" "714" "0" "c.714del" "r.(?)" "p.(Val239Serfs*80)" "" "0000909977" "00008319" "90" "499" "0" "499" "0" "c.499T>G" "r.(?)" "p.(Phe167Val)" "" "0000914711" "00008319" "30" "4361" "0" "4361" "0" "c.*2792G>T" "r.(=)" "p.(=)" "" "0000926368" "00008319" "30" "-2741" "0" "-2741" "0" "c.-2741G>A" "r.(?)" "p.(=)" "" "0000930668" "00008319" "30" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ala296Val)" "" "0000930669" "00008319" "30" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Leu)" "" "0000950763" "00008319" "30" "5530" "0" "5530" "0" "c.*3961G>A" "r.(=)" "p.(=)" "" "0000950764" "00008319" "30" "121" "-330" "121" "-330" "c.121-330G>A" "r.(=)" "p.(=)" "" "0000982183" "00008319" "30" "5603" "0" "5603" "0" "c.*4034G>A" "r.(=)" "p.(=)" "" "0000982184" "00008319" "10" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Phe282=)" "" "0000982185" "00008319" "30" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.(Ala241=)" "" "0000982186" "00008319" "10" "510" "0" "510" "0" "c.510T>C" "r.(?)" "p.(Tyr170=)" "" "0000982187" "00008319" "30" "121" "-208" "121" "-208" "c.121-208A>G" "r.(=)" "p.(=)" "" "0000982188" "00008319" "30" "121" "-210" "121" "-210" "c.121-210C>T" "r.(=)" "p.(=)" "" "0000982189" "00008319" "30" "121" "-211" "121" "-211" "c.121-211G>T" "r.(=)" "p.(=)" "" "0000982190" "00008319" "30" "121" "-257" "121" "-257" "c.121-257A>C" "r.(=)" "p.(=)" "" "0000982191" "00008319" "50" "121" "-269" "121" "-269" "c.121-269T>G" "r.(=)" "p.(=)" "" "0000982192" "00008319" "70" "-308" "0" "-308" "0" "c.-308A>C" "r.(?)" "p.(=)" "" "0000982193" "00008319" "30" "-1879" "0" "-1879" "0" "c.-1879G>A" "r.(?)" "p.(=)" "" "0000982194" "00008319" "50" "-2725" "0" "-2725" "0" "c.-2725T>C" "r.(?)" "p.(=)" "" "0000982195" "00008319" "50" "-4062" "0" "-4062" "0" "c.-4062T>C" "r.(?)" "p.(=)" "" "0001002728" "00008319" "30" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "0001002729" "00008319" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ser295Phe)" "" "0001008519" "00008319" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Gly505Arg)" "" "0001011317" "00008319" "70" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Gly317Arg)" "" "0001011318" "00008319" "90" "951" "0" "951" "0" "c.951dup" "r.(?)" "p.(Met318AspfsTer47)" "" "0001011359" "00008319" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0001012451" "00008319" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Gln)" "" "0001012773" "00008319" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Trp)" "2" "0001012774" "00008319" "90" "472" "0" "472" "0" "c.472G>T" "r.(?)" "p.(Glu158Ter)" "5" "0001012775" "00008319" "90" "706" "0" "706" "0" "c.706C>G" "r.(?)" "p.(His236Asp)" "7" "0001012776" "00008319" "90" "1099" "0" "1099" "0" "c.1099A>T" "r.(?)" "p.(Asn367Tyr)" "10" "0001012777" "00008319" "90" "1470" "0" "1470" "0" "c.1470C>A" "r.(?)" "p.(Asn490Lys)" "13" "0001012778" "00008319" "50" "566" "5" "566" "5" "c.566+5T>C" "r.spl" "p.?" "5i" "0001012793" "00008319" "90" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Ala400Pro)" "11" "0001012794" "00008319" "90" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Asn164Thr)" "5" "0001012795" "00008319" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "11" "0001012796" "00008319" "90" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Trp405Ter)" "11" "0001012797" "00008319" "90" "121" "-1" "690" "1" "c.(120+1_121-1)_(690+1_691-1)del" "r.?" "p.?" "1i_13i" "0001012798" "00008319" "90" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Trp325Ter)" "9" "0001026791" "00008319" "30" "4433" "0" "4433" "0" "c.*2864C>T" "r.(=)" "p.(=)" "" "0001026792" "00008319" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Val488Met)" "" "0001026793" "00008319" "30" "1177" "0" "1177" "0" "c.1177G>T" "r.(?)" "p.(Ala393Ser)" "" "0001041457" "00008319" "30" "1278" "0" "1278" "0" "c.1278G>T" "r.(?)" "p.(=)" "" "0001041458" "00008319" "90" "901" "0" "901" "0" "c.901G>T" "r.(?)" "p.(Gly301Cys)" "" "0001041459" "00008319" "30" "858" "0" "858" "0" "c.858G>A" "r.(?)" "p.(=)" "" "0001041460" "00008319" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250*)" "" "0001041461" "00008319" "50" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Ala237Thr)" "" "0001041462" "00008319" "30" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(=)" "" "0001041463" "00008319" "50" "-1884" "0" "-1884" "0" "c.-1884C>T" "r.(?)" "p.(=)" "" "0001041464" "00008319" "50" "-1911" "0" "-1911" "0" "c.-1911T>C" "r.(?)" "p.(=)" "" "0001041465" "00008319" "50" "-3082" "0" "-3082" "0" "c.-3082G>A" "r.(?)" "p.(=)" "" "0001049806" "00008319" "90" "121" "-31" "121" "-31" "c.121-31T>C" "r.(?)" "p.(?)" "" "0001055717" "00008319" "10" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(=)" "" "0001055718" "00008319" "50" "1230" "0" "1230" "0" "c.1230G>C" "r.(?)" "p.(Glu410Asp)" "" "0001055719" "00008319" "50" "121" "-253" "121" "-253" "c.121-253C>T" "r.(=)" "p.(=)" "" "0001059646" "00008319" "70" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0001059647" "00008319" "70" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Thr429Ile)" "" "0001059648" "00008319" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Trp)" "" "0001059649" "00008319" "70" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Cys79Arg)" "" "0001059650" "00008319" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61Trp)" "" "0001059651" "00008319" "70" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Asn32Thr)" "" "0001059652" "00008319" "50" "120" "6115" "120" "6115" "c.120+6115A>T" "r.spl?" "p.?" "" "0001059653" "00008319" "70" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Ala482Val)" "" "0001059654" "00008319" "70" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Asn32Thr)" "" "0001059655" "00008319" "70" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "" "0001059717" "00008319" "70" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Ser264Asn)" "" "0001059718" "00008319" "50" "121" "-3634" "121" "-3634" "c.121-3634C>G" "r.spl?" "p.?" "" "0001059719" "00008319" "70" "571" "0" "571" "0" "c.571T>G" "r.(?)" "p.(Tyr191Asp)" "" "0001059720" "00008319" "70" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Gly139Ser)" "" "0001059721" "00008319" "70" "986" "0" "986" "0" "c.986A>C" "r.(?)" "p.(His329Pro)" "" "0001060870" "00008319" "50" "499" "0" "499" "0" "c.499T>G" "r.(?)" "p.(Phe167Val)" "" "0001066562" "00008319" "70" "850" "0" "850" "0" "c.850T>G" "r.(?)" "p.(Phe284Val)" "" "0001066563" "00008319" "50" "-1921" "0" "-1921" "0" "c.-1921A>G" "r.(?)" "p.(=)" "" "0001066564" "00008319" "30" "-2796" "0" "-2796" "0" "c.-2796C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000292748" "0000649437" "0000292749" "0000649438" "0000292750" "0000649439" "0000292751" "0000649440" "0000309896" "0000684798" "0000332676" "0000729958" "0000332677" "0000729959" "0000332678" "0000729960" "0000387150" "0000815011" "0000387150" "0000815021" "0000387153" "0000815014" "0000387732" "0000815866" "0000404131" "0000839724" "0000419999" "0000909976" "0000419999" "0000909977" "0000420821" "0000881180" "0000456932" "0001011317" "0000456933" "0001011318" "0000456933" "0001011359" "0000457885" "0001012451" "0000458164" "0001012773" "0000458164" "0001012793" "0000458165" "0001012774" "0000458165" "0001012794" "0000458166" "0001012775" "0000458166" "0001012795" "0000458167" "0001012776" "0000458167" "0001012796" "0000458168" "0001012777" "0000458168" "0001012797" "0000458169" "0001012778" "0000458169" "0001012798" "0000471498" "0001059646" "0000471499" "0001059647" "0000471500" "0001059648" "0000471500" "0001059717" "0000471501" "0001059649" "0000471502" "0001059650" "0000471503" "0001059651" "0000471504" "0001059652" "0000471504" "0001059718" "0000471505" "0001059653" "0000471505" "0001059719" "0000471506" "0001059654" "0000471506" "0001059720" "0000471507" "0001059655" "0000471507" "0001059721" "0000472314" "0001060870"