### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHST3)
# 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}}"
"CHST3"	"carbohydrate (chondroitin 6) sulfotransferase 3"	"10"	"q22.1"	"unknown"	"NG_012635.1"	"UD_132084432201"	""	"http://www.LOVD.nl/CHST3"	""	"1"	"1971"	"9469"	"603799"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/CHST3_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-08-22 00:00:00"	"00006"	"2016-08-10 13:20:55"	"00006"	"2025-11-20 14:38:22"


## 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}}"
"00005158"	"CHST3"	"carbohydrate (chondroitin 6) sulfotransferase 3"	"001"	"NM_004273.4"	""	"NP_004264.2"	""	""	""	"-440"	"6533"	"1440"	"73724120"	"73773322"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01370"	"SEDCJD"	"Spondyloepiphyseal dysplasia with congenital joint dislocations"	"AR"	"143095"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05346"	"SEMD"	"dysplasia, spondyloepimetaphyseal (SEMD)"	""	""	""	""	""	"00006"	"2017-11-17 14:28:27"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CHST3"	"01370"


## Individuals ## Do not remove or alter this header ##
## Count = 13
"{{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}}"
"00079372"	""	""	""	"1"	""	"00006"	"{PMID:Hermanns 2008:18513679}, {DOI:Hermanns 2008:10.1016/j.ajhg.2008.05.006}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister"	"M"	"no"	"Spain"	""	"0"	""	""	""	""
"00290133"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290134"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00331360"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"15DG1370"
"00401667"	""	""	""	"1"	""	"02556"	""	""	""	"yes"	"Pakistan"	""	""	""	""	""	""
"00410735"	""	""	""	"1"	""	"02556"	""	""	""	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00465857"	""	""	""	"1"	""	"00006"	"{PMID:Ranza 2017:28229453}"	"patient, no family history"	""	"yes"	"Morocco"	""	"0"	""	""	""	"Pat14"
"00469773"	""	""	""	"2"	""	"00006"	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"India"	""	"0"	""	""	""	"Fam1Pat1/2"
"00469774"	""	""	""	"2"	""	"00006"	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"India"	""	"0"	""	""	""	"Fam4Pat5/6;?"
"00469775"	""	""	""	"1"	""	"00006"	"{PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"India"	""	"0"	""	""	""	""
"00469776"	""	""	""	"1"	""	"00006"	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"India"	""	"0"	""	""	""	"Fam2Pat3;?"
"00469893"	""	""	""	"1"	""	"00006"	"{PMID:Singh 2024:37876363}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	"India"	""	"0"	""	""	""	"Fam3Pat4"
"00469894"	""	""	""	"3"	""	"00006"	"{PMID:Singh 2024:37876363}"	"2-generation family, affected brother/sister/brother, unaffected parents"	"F;M"	""	"India"	""	"0"	""	""	""	"Fam5Pat7/8/9"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 13
"{{individualid}}"	"{{diseaseid}}"
"00079372"	"01370"
"00290133"	"00198"
"00290134"	"00198"
"00331360"	"05517"
"00401667"	"01370"
"00410735"	"05346"
"00465857"	"00198"
"00469773"	"05517"
"00469774"	"05517"
"00469775"	"05517"
"00469776"	"05517"
"00469893"	"05517"
"00469894"	"05517"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01370, 05346, 05517
## Count = 9
"{{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}}"
"0000059092"	"01370"	"00079372"	"00006"	"Familial, autosomal recessive"	""	"at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet"	""	""	""	""	""	""	""	""	""	""	""
"0000249552"	"05517"	"00331360"	"00000"	"Familial, autosomal recessive"	""	"Short stature, Knee dislocation, Congenital bilateral hip dislocation, Downslanted palpebr Yes"	""	""	""	""	""	""	""	""	"Sulphation disorders group"	"skeletal dysplasia"	""
"0000351306"	"00198"	"00465857"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., intrauterine growth retadation; 12y-short stature (-4 SD); advanced bone age; joint dislocations knees, hips, radial heads; hands normal hands; limitation of elbow\'s extension, scoliosis, progressive cervical anomalies; ; no facial features; no intellectual disability"	""	""	""	""	""	""	""	""	""	"Desbuquois dysplasia"	""
"0000354918"	"05517"	"00469773"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SEDCJD"	"skeletal dysplasia"	""
"0000354919"	"05517"	"00469774"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SEDCJD"	"skeletal dysplasia"	""
"0000354920"	"05517"	"00469775"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"SEDCJD"	"skeletal dysplasia"	""
"0000354921"	"05517"	"00469776"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"SEDCJD"	"skeletal dysplasia"	""
"0000355038"	"05517"	"00469893"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SEDCJD"	"chondrodysplasia, congenital joint dislocations"	""
"0000355039"	"05517"	"00469894"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SEDCJD"	"chondrodysplasia, congenital joint dislocations"	""


## Screenings ## Do not remove or alter this header ##
## Count = 13
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000079445"	"00079372"	"1"	"00006"	"00006"	"2016-08-10 13:46:31"	""	""	"SEQ"	"DNA"	""	""
"0000291301"	"00290133"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291302"	"00290134"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000332579"	"00331360"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000402910"	"00401667"	"1"	"02556"	"02556"	"2022-02-02 05:47:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000412000"	"00410735"	"1"	"02556"	"02556"	"2022-05-30 11:02:05"	""	""	"SEQ-NG"	"RNA"	""	"WES"
"0000467508"	"00465857"	"1"	"00006"	"00006"	"2025-06-07 14:19:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471441"	"00469773"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471442"	"00469774"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471443"	"00469775"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471444"	"00469776"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471561"	"00469893"	"1"	"00006"	"00006"	"2025-11-20 14:35:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471562"	"00469894"	"1"	"00006"	"00006"	"2025-11-20 14:35:04"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000079445"	"CHST3"
"0000332579"	"CHST3"
"0000402910"	"CHST3"
"0000412000"	"CHST3"


## 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 = 50
"{{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}}"
"0000128179"	"21"	"90"	"10"	"73767406"	"73767407"	"delins"	"0"	"00006"	"CHST3_000001"	"g.73767406_73767407delinsCA"	""	"{PMID:Hermanns 2008:18513679}, {DOI:Hermanns 2008:10.1016/j.ajhg.2008.05.006}"	""	"617-618TC>CA (F203X)"	""	"Germline"	"yes"	""	"0"	""	""	"g.72007648_72007649delinsCA"	""	"pathogenic"	""
"0000128180"	"10"	"90"	"10"	"73766929"	"73766930"	"inv"	"0"	"00006"	"CHST3_000002"	"g.73766929_73766930inv"	""	"{PMID:Hermanns 2008:18513679}, {DOI:Hermanns 2008:10.1016/j.ajhg.2008.05.006}"	""	"IVS2-1G>C and 141G>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.72007171_72007172inv"	""	"pathogenic"	""
"0000266808"	"0"	"10"	"10"	"73767859"	"73767859"	"subst"	"0.360683"	"02325"	"CHST3_000007"	"g.73767859G>A"	""	""	""	"CHST3(NM_004273.5):c.1070G>A (p.R357Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008101G>A"	""	"benign"	""
"0000268126"	"0"	"10"	"10"	"73767859"	"73767859"	"subst"	"0.360683"	"02329"	"CHST3_000007"	"g.73767859G>A"	""	""	""	"CHST3(NM_004273.5):c.1070G>A (p.R357Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008101G>A"	""	"benign"	""
"0000268127"	"0"	"30"	"10"	"73765708"	"73765708"	"subst"	"0.00160889"	"02329"	"CHST3_000003"	"g.73765708C>G"	""	""	""	"CHST3(NM_004273.5):c.108C>G (p.V36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72005950C>G"	""	"likely benign"	""
"0000268128"	"0"	"30"	"10"	"73767962"	"73767962"	"subst"	"0.00175858"	"02329"	"CHST3_000008"	"g.73767962C>A"	""	""	""	"CHST3(NM_004273.5):c.1173C>A (p.I391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008204C>A"	""	"likely benign"	""
"0000268129"	"0"	"30"	"10"	"73768152"	"73768152"	"subst"	"0.000318493"	"02329"	"CHST3_000010"	"g.73768152C>G"	""	""	""	"CHST3(NM_004273.4):c.1363C>G (p.L455V), CHST3(NM_004273.5):c.1363C>G (p.L455V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008394C>G"	""	"likely benign"	""
"0000268130"	"0"	"10"	"10"	"73768217"	"73768217"	"subst"	"0.0106826"	"02329"	"CHST3_000011"	"g.73768217C>T"	""	""	""	"CHST3(NM_004273.5):c.1428C>T (p.F476=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008459C>T"	""	"benign"	""
"0000268131"	"0"	"30"	"10"	"73767065"	"73767065"	"subst"	"5.77044E-5"	"02329"	"CHST3_000004"	"g.73767065C>A"	""	""	""	"CHST3(NM_004273.5):c.276C>A (p.S92R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72007307C>A"	""	"likely benign"	""
"0000268132"	"0"	"30"	"10"	"73767494"	"73767494"	"subst"	"0"	"02329"	"CHST3_000006"	"g.73767494G>A"	""	""	""	"CHST3(NM_004273.5):c.705G>A (p.T235=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72007736G>A"	""	"likely benign"	""
"0000273555"	"0"	"10"	"10"	"73768136"	"73768136"	"subst"	"0.00110527"	"01943"	"CHST3_000009"	"g.73768136C>T"	""	""	""	"CHST3(NM_004273.4):c.1347C>T (p.R449=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008378C>T"	""	"benign"	""
"0000273556"	"0"	"30"	"10"	"73768152"	"73768152"	"subst"	"0.000318493"	"01943"	"CHST3_000010"	"g.73768152C>G"	""	""	""	"CHST3(NM_004273.4):c.1363C>G (p.L455V), CHST3(NM_004273.5):c.1363C>G (p.L455V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008394C>G"	""	"likely benign"	""
"0000273557"	"0"	"10"	"10"	"73767206"	"73767206"	"subst"	"0.00135025"	"01943"	"CHST3_000005"	"g.73767206C>T"	""	""	""	"CHST3(NM_004273.4):c.417C>T (p.A139=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72007448C>T"	""	"benign"	""
"0000336845"	"0"	"10"	"10"	"73724266"	"73724266"	"subst"	"0"	"02327"	"CHST3_000012"	"g.73724266C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.71964508C>G"	""	"benign"	""
"0000342722"	"0"	"10"	"10"	"73767859"	"73767859"	"subst"	"0.360683"	"02327"	"CHST3_000007"	"g.73767859G>A"	""	""	""	"CHST3(NM_004273.5):c.1070G>A (p.R357Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72008101G>A"	""	"benign"	""
"0000345169"	"0"	"50"	"10"	"73767277"	"73767277"	"subst"	"0"	"02327"	"CHST3_000013"	"g.73767277A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.72007519A>T"	""	"VUS"	""
"0000540798"	"0"	"30"	"10"	"73765702"	"73765702"	"subst"	"4.062E-6"	"02329"	"CHST3_000014"	"g.73765702T>G"	""	""	""	"CHST3(NM_004273.5):c.102T>G (p.V34=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72005944T>G"	""	"likely benign"	""
"0000540800"	"0"	"50"	"10"	"73767612"	"73767612"	"subst"	"0"	"01804"	"CHST3_000016"	"g.73767612G>A"	""	""	""	"CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72007854G>A"	""	"VUS"	""
"0000540801"	"0"	"50"	"10"	"73767792"	"73767792"	"subst"	"0.000645741"	"01943"	"CHST3_000017"	"g.73767792G>A"	""	""	""	"CHST3(NM_004273.4):c.1003G>A (p.E335K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72008034G>A"	""	"VUS"	""
"0000540803"	"0"	"30"	"10"	"73767986"	"73767986"	"subst"	"0.00098095"	"02329"	"CHST3_000019"	"g.73767986C>T"	""	""	""	"CHST3(NM_004273.4):c.1197C>T (p.D399=), CHST3(NM_004273.5):c.1197C>T (p.D399=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72008228C>T"	""	"likely benign"	""
"0000540804"	"0"	"30"	"10"	"73768040"	"73768040"	"subst"	"0.000678228"	"01943"	"CHST3_000020"	"g.73768040G>C"	""	""	""	"CHST3(NM_004273.4):c.1251G>C (p.T417=), CHST3(NM_004273.5):c.1251G>C (p.T417=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72008282G>C"	""	"likely benign"	""
"0000540805"	"0"	"30"	"10"	"73768040"	"73768040"	"subst"	"0.000678228"	"02329"	"CHST3_000020"	"g.73768040G>C"	""	""	""	"CHST3(NM_004273.4):c.1251G>C (p.T417=), CHST3(NM_004273.5):c.1251G>C (p.T417=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72008282G>C"	""	"likely benign"	""
"0000612629"	"0"	"30"	"10"	"73767102"	"73767102"	"subst"	"1.29147E-5"	"01804"	"CHST3_000021"	"g.73767102C>G"	""	""	""	"CHST3(NM_004273.4):c.313C>G (p.(Pro105Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72007344C>G"	""	"likely benign"	""
"0000612630"	"0"	"50"	"10"	"73767582"	"73767582"	"subst"	"8.89434E-6"	"01804"	"CHST3_000022"	"g.73767582C>G"	""	""	""	"CHST3(NM_004273.4):c.793C>G (p.(Arg265Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72007824C>G"	""	"VUS"	""
"0000647990"	"1"	"10"	"10"	"73767949"	"73767949"	"subst"	"0.00180762"	"03575"	"CHST3_000023"	"g.73767949G>A"	"4/2785 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs145384892}"	"Germline"	""	"rs145384892"	"0"	""	""	"g.72008191G>A"	""	"benign"	""
"0000647991"	"1"	"30"	"10"	"73768217"	"73768217"	"subst"	"0.0106826"	"03575"	"CHST3_000011"	"g.73768217C>T"	"2/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs75845750}"	"Germline"	""	"rs75845750"	"0"	""	""	"g.72008459C>T"	""	"likely benign"	""
"0000656544"	"0"	"30"	"10"	"73767986"	"73767986"	"subst"	"0.00098095"	"01943"	"CHST3_000019"	"g.73767986C>T"	""	""	""	"CHST3(NM_004273.4):c.1197C>T (p.D399=), CHST3(NM_004273.5):c.1197C>T (p.D399=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.72008228C>T"	""	"likely benign"	""
"0000722917"	"0"	"30"	"10"	"73767293"	"73767293"	"subst"	"1.29093E-5"	"01943"	"CHST3_000024"	"g.73767293C>T"	""	""	""	"CHST3(NM_004273.4):c.504C>T (p.I168=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722918"	"0"	"50"	"10"	"73767612"	"73767612"	"subst"	"0"	"01943"	"CHST3_000016"	"g.73767612G>A"	""	""	""	"CHST3(NM_004273.4):c.823G>A (p.V275M, p.(Val275Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729861"	"3"	"90"	"10"	"73767454"	"73767454"	"subst"	"0"	"00000"	"CHST3_000025"	"g.73767454G>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_004273.4:c.665G>T:p.(Arg222Leu)"	""	"Germline"	""	""	"0"	""	""	"g.72007696G>T"	""	"likely pathogenic (recessive)"	""
"0000804547"	"0"	"50"	"10"	"73767555"	"73767555"	"subst"	"0"	"01943"	"CHST3_000026"	"g.73767555A>T"	""	""	""	"CHST3(NM_004273.4):c.766A>T (p.N256Y), CHST3(NM_004273.5):c.766A>T (p.(Asn256Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804548"	"0"	"30"	"10"	"73767949"	"73767949"	"subst"	"0.00180762"	"01804"	"CHST3_000023"	"g.73767949G>A"	""	""	""	"CHST3(NM_004273.4):c.1160G>A (p.(Arg387His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804549"	"0"	"30"	"10"	"73768125"	"73768125"	"subst"	"0"	"01804"	"CHST3_000027"	"g.73768125C>T"	""	""	""	"CHST3(NM_004273.4):c.1336C>T (p.(Pro446Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000837202"	"3"	"90"	"10"	"73767392"	"73767392"	"subst"	"0"	"02556"	"CHST3_000028"	"g.73767392C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.72007634C>A"	""	"pathogenic"	"ACMG"
"0000861981"	"0"	"30"	"10"	"73767137"	"73767137"	"subst"	"0.000287501"	"01804"	"CHST3_000029"	"g.73767137G>T"	""	""	""	"CHST3(NM_004273.4):c.348G>T (p.(Glu116Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000869250"	"3"	"90"	"10"	"73767379"	"73767379"	"subst"	"0"	"02556"	"CHST3_000030"	"g.73767379T>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.72007621T>C"	""	"pathogenic"	"ACMG"
"0000913321"	"0"	"90"	"10"	"73766995"	"73766995"	"del"	"0"	"02327"	"CHST3_000031"	"g.73766995del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000949435"	"0"	"30"	"10"	"73765489"	"73765489"	"subst"	"0"	"02329"	"CHST3_000032"	"g.73765489C>T"	""	""	""	"CHST3(NM_004273.5):c.-107-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979128"	"0"	"50"	"10"	"73767555"	"73767555"	"subst"	"0"	"01804"	"CHST3_000026"	"g.73767555A>T"	""	""	""	"CHST3(NM_004273.4):c.766A>T (p.N256Y), CHST3(NM_004273.5):c.766A>T (p.(Asn256Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979129"	"0"	"50"	"10"	"73767658"	"73767658"	"subst"	"2.37857E-5"	"01804"	"CHST3_000033"	"g.73767658C>G"	""	""	""	"CHST3(NM_004273.5):c.869C>G (p.(Pro290Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979130"	"0"	"30"	"10"	"73767924"	"73767924"	"subst"	"0.000365724"	"02329"	"CHST3_000034"	"g.73767924C>T"	""	""	""	"CHST3(NM_004273.5):c.1135C>T (p.L379=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037996"	"0"	"30"	"10"	"73765747"	"73765747"	"subst"	"0"	"01804"	"CHST3_000035"	"g.73765747G>A"	""	""	""	"CHST3(NM_004273.5):c.140+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001045320"	"3"	"90"	"10"	"73765600"	"73768230"	"del"	"0"	"00006"	"CHST3_000036"	"g.(?_73765600)_(73768230_?)del"	""	"{PMID:Ranza 2017:28229453}"	""	"1_1440del"	""	"Germline"	""	""	"0"	""	""	"g.(?_72005842)_(72008472_?)del"	""	"pathogenic (recessive)"	""
"0001053592"	"0"	"50"	"10"	"73767033"	"73767033"	"subst"	"1.22005E-5"	"01804"	"CHST3_000037"	"g.73767033G>A"	""	""	""	"CHST3(NM_004273.5):c.244G>A (p.(Glu82Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001059589"	"3"	"70"	"10"	"73767289"	"73767289"	"subst"	"0"	"00006"	"CHST3_000038"	"g.73767289A>G"	""	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72007531A>G"	"SCV002507172.1"	"likely pathogenic (recessive)"	""
"0001059590"	"3"	"70"	"10"	"73767954"	"73767954"	"subst"	"6.72748E-6"	"00006"	"CHST3_000040"	"g.73767954G>C"	""	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72008196G>C"	"SCV002054012.2"	"likely pathogenic (recessive)"	""
"0001059591"	"3"	"70"	"10"	"73767557"	"73767557"	"subst"	"0"	"00006"	"CHST3_000043"	"g.73767557C>G"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72007799C>G"	"SCV002507191.1"	"likely pathogenic (recessive)"	""
"0001059592"	"3"	"70"	"10"	"73767477"	"73767477"	"subst"	"0"	"00006"	"CHST3_000039"	"g.73767477G>A"	""	"{PMID:Singh 2024:37876363}, {PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.72007719G>A"	"SCV002507147.1"	"likely pathogenic (recessive)"	""
"0001059735"	"3"	"90"	"10"	"73767765"	"73767765"	"dup"	"0"	"00006"	"CHST3_000041"	"g.73767765dup"	""	"{PMID:Singh 2024:37876363}"	""	"976dupG"	"ACMG PVS1, PM2 , PP3"	"Germline"	""	""	"0"	""	""	"g.72008007dup"	""	"pathogenic (recessive)"	""
"0001059736"	"3"	"70"	"10"	"73767219"	"73767219"	"subst"	"4.31842E-6"	"00006"	"CHST3_000042"	"g.73767219G>A"	""	"{PMID:Singh 2024:37876363}"	""	""	"ACMG PM1, PM2 , PM5, PP1,  PP3, PP4"	"Germline"	"yes"	""	"0"	""	""	"g.72007461G>A"	""	"likely pathogenic (recessive)"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CHST3
## Count = 50
"{{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}}"
"0000128179"	"00005158"	"90"	"617"	"0"	"618"	"0"	"c.617_618delinsCA"	"r.(?)"	"p.(Phe206Ser)"	"3"
"0000128180"	"00005158"	"90"	"141"	"-1"	"141"	"0"	"c.141-1_141inv"	"r.spl"	"p.?"	"2i_3"
"0000266808"	"00005158"	"10"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357Gln)"	""
"0000268126"	"00005158"	"10"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357Gln)"	""
"0000268127"	"00005158"	"30"	"108"	"0"	"108"	"0"	"c.108C>G"	"r.(?)"	"p.(Val36=)"	""
"0000268128"	"00005158"	"30"	"1173"	"0"	"1173"	"0"	"c.1173C>A"	"r.(?)"	"p.(Ile391=)"	""
"0000268129"	"00005158"	"30"	"1363"	"0"	"1363"	"0"	"c.1363C>G"	"r.(?)"	"p.(Leu455Val)"	""
"0000268130"	"00005158"	"10"	"1428"	"0"	"1428"	"0"	"c.1428C>T"	"r.(?)"	"p.(Phe476=)"	""
"0000268131"	"00005158"	"30"	"276"	"0"	"276"	"0"	"c.276C>A"	"r.(?)"	"p.(Ser92Arg)"	""
"0000268132"	"00005158"	"30"	"705"	"0"	"705"	"0"	"c.705G>A"	"r.(?)"	"p.(Thr235=)"	""
"0000273555"	"00005158"	"10"	"1347"	"0"	"1347"	"0"	"c.1347C>T"	"r.(?)"	"p.(Arg449=)"	""
"0000273556"	"00005158"	"30"	"1363"	"0"	"1363"	"0"	"c.1363C>G"	"r.(?)"	"p.(Leu455Val)"	""
"0000273557"	"00005158"	"10"	"417"	"0"	"417"	"0"	"c.417C>T"	"r.(?)"	"p.(Ala139=)"	""
"0000336845"	"00005158"	"10"	"-294"	"0"	"-294"	"0"	"c.-294C>G"	"r.(?)"	"p.(=)"	""
"0000342722"	"00005158"	"10"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	"r.(?)"	"p.(Arg357Gln)"	""
"0000345169"	"00005158"	"50"	"488"	"0"	"488"	"0"	"c.488A>T"	"r.(?)"	"p.(Glu163Val)"	""
"0000540798"	"00005158"	"30"	"102"	"0"	"102"	"0"	"c.102T>G"	"r.(?)"	"p.(Val34=)"	""
"0000540800"	"00005158"	"50"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Met)"	""
"0000540801"	"00005158"	"50"	"1003"	"0"	"1003"	"0"	"c.1003G>A"	"r.(?)"	"p.(Glu335Lys)"	""
"0000540803"	"00005158"	"30"	"1197"	"0"	"1197"	"0"	"c.1197C>T"	"r.(?)"	"p.(Asp399=)"	""
"0000540804"	"00005158"	"30"	"1251"	"0"	"1251"	"0"	"c.1251G>C"	"r.(?)"	"p.(Thr417=)"	""
"0000540805"	"00005158"	"30"	"1251"	"0"	"1251"	"0"	"c.1251G>C"	"r.(?)"	"p.(Thr417=)"	""
"0000612629"	"00005158"	"30"	"313"	"0"	"313"	"0"	"c.313C>G"	"r.(?)"	"p.(Pro105Ala)"	""
"0000612630"	"00005158"	"50"	"793"	"0"	"793"	"0"	"c.793C>G"	"r.(?)"	"p.(Arg265Gly)"	""
"0000647990"	"00005158"	"10"	"1160"	"0"	"1160"	"0"	"c.1160G>A"	"r.(?)"	"p.(Arg387His)"	""
"0000647991"	"00005158"	"30"	"1428"	"0"	"1428"	"0"	"c.1428C>T"	"r.(=)"	"p.(=)"	""
"0000656544"	"00005158"	"30"	"1197"	"0"	"1197"	"0"	"c.1197C>T"	"r.(?)"	"p.(Asp399=)"	""
"0000722917"	"00005158"	"30"	"504"	"0"	"504"	"0"	"c.504C>T"	"r.(?)"	"p.(Ile168=)"	""
"0000722918"	"00005158"	"50"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Val275Met)"	""
"0000729861"	"00005158"	"90"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.(?)"	"p.(Arg222Leu)"	""
"0000804547"	"00005158"	"50"	"766"	"0"	"766"	"0"	"c.766A>T"	"r.(?)"	"p.(Asn256Tyr)"	""
"0000804548"	"00005158"	"30"	"1160"	"0"	"1160"	"0"	"c.1160G>A"	"r.(?)"	"p.(Arg387His)"	""
"0000804549"	"00005158"	"30"	"1336"	"0"	"1336"	"0"	"c.1336C>T"	"r.(?)"	"p.(Pro446Ser)"	""
"0000837202"	"00005158"	"90"	"603"	"0"	"603"	"0"	"c.603C>A"	"r.(?)"	"p.(Tyr201*)"	""
"0000861981"	"00005158"	"30"	"348"	"0"	"348"	"0"	"c.348G>T"	"r.(?)"	"p.(Glu116Asp)"	""
"0000869250"	"00005158"	"90"	"590"	"0"	"590"	"0"	"c.590T>C"	"r.(?)"	"p.(Leu197Pro)"	""
"0000913321"	"00005158"	"90"	"206"	"0"	"206"	"0"	"c.206del"	"r.(?)"	"p.(Leu69Argfs*3)"	""
"0000949435"	"00005158"	"30"	"-107"	"-5"	"-107"	"-5"	"c.-107-5C>T"	"r.spl?"	"p.?"	""
"0000979128"	"00005158"	"50"	"766"	"0"	"766"	"0"	"c.766A>T"	"r.(?)"	"p.(Asn256Tyr)"	""
"0000979129"	"00005158"	"50"	"869"	"0"	"869"	"0"	"c.869C>G"	"r.(?)"	"p.(Pro290Arg)"	""
"0000979130"	"00005158"	"30"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.(?)"	"p.(=)"	""
"0001037996"	"00005158"	"30"	"140"	"7"	"140"	"7"	"c.140+7G>A"	"r.(=)"	"p.(=)"	""
"0001045320"	"00005158"	"90"	""	"0"	""	"0"	"c.(?_-1)_(*1_?)del"	"r.0?"	"p.0"	""
"0001053592"	"00005158"	"50"	"244"	"0"	"244"	"0"	"c.244G>A"	"r.(?)"	"p.(Glu82Lys)"	""
"0001059589"	"00005158"	"70"	"500"	"0"	"500"	"0"	"c.500A>G"	"r.(?)"	"p.(His167Arg)"	""
"0001059590"	"00005158"	"70"	"1165"	"0"	"1165"	"0"	"c.1165G>C"	"r.(?)"	"p.(Ala389Pro)"	""
"0001059591"	"00005158"	"70"	"768"	"0"	"768"	"0"	"c.768C>G"	"r.(?)"	"p.(Asn256Lys)"	""
"0001059592"	"00005158"	"70"	"688"	"0"	"688"	"0"	"c.688G>A"	"r.(?)"	"p.(Glu230Lys)"	""
"0001059735"	"00005158"	"90"	"976"	"0"	"976"	"0"	"c.976dupG"	"r.(?)"	"p.(Asp326GlyfsTer186)"	""
"0001059736"	"00005158"	"70"	"430"	"0"	"430"	"0"	"c.430G>A"	"r.(?)"	"p.(Gly144Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{variantid}}"
"0000079445"	"0000128179"
"0000079445"	"0000128180"
"0000291301"	"0000647990"
"0000291302"	"0000647991"
"0000332579"	"0000729861"
"0000402910"	"0000837202"
"0000412000"	"0000869250"
"0000467508"	"0001045320"
"0000471441"	"0001059589"
"0000471442"	"0001059590"
"0000471443"	"0001059591"
"0000471444"	"0001059592"
"0000471561"	"0001059735"
"0000471562"	"0001059736"