### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHST6) # 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}}" "CHST6" "carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6" "16" "q22" "unknown" "NG_016442.1" "UD_132085408282" "" "https://www.LOVD.nl/CHST6" "" "1" "6938" "4166" "605294" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CHST6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-08-22 00:00:00" "00006" "2017-06-24 13:23:29" "00000" "2025-07-08 13:22:38" ## 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}}" "00005161" "CHST6" "carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6" "001" "NM_021615.4" "" "NP_067628.1" "" "" "" "-180" "6705" "1188" "75528926" "75507022" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01722" "MCD" "dystrophy, macular, corneal (MCD)" "AR" "217800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHST6" "01722" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00106630" "" "" "" "2" "" "01413" "{PMID:Park 2015:26604660}" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat5-1/5-2" "00106631" "" "" "" "1" "" "01413" "{PMID:Park 2015:26604660}" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat6" "00106632" "" "" "" "1" "" "01413" "{PMID:Park 2015:26604660}" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat2" "00106671" "" "" "" "1" "" "01413" "{PMID:Park 2015:26604660}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat1" "00106672" "" "" "" "1" "" "01413" "{PMID:Park 2015:26604660}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat3" "00106673" "" "" "" "1" "" "01413" "{PMID:Park 2015:26604660}" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "26604660-Pat4" "00177013" "" "" "" "1" "" "02552" "" "" "M" "no" "" "" "0" "" "" "white (ancestors from Austra and Russia)" "43092" "00248430" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291545" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00106630" "01722" "00106631" "01722" "00106632" "01722" "00106671" "01722" "00106672" "01722" "00106673" "01722" "00177013" "00344" "00291545" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 01722 ## Count = 8 "{{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}}" "0000084437" "01722" "00106630" "01413" "Familial, autosomal recessive" "" "Macular corneal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000084438" "01722" "00106631" "01413" "Isolated (sporadic)" "" "Macular corneal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000084439" "01722" "00106632" "01413" "Unknown" "" "Macular corneal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "0000084475" "01722" "00106671" "01413" "Familial, autosomal recessive" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000084476" "01722" "00106672" "01413" "Familial, autosomal recessive" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "0000084477" "01722" "00106673" "01413" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "0000141830" "00344" "00177013" "02552" "Familial, autosomal dominant" "" "HP:0001252\r\nHP:0002066\r\nHP:0100807\r\nHP:0006184\r\nHP:0000767" "00y03m" "" "" "" "" "" "" "" "Epileptic encephalopathy, early infantile, 13" "" "" "0000187421" "00198" "00248430" "01164" "Unknown" "" "HP:0001131 (Corneal dystrophy)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000107101" "00106630" "1" "01413" "01413" "2015-10-12 05:17:45" "00006" "2017-07-08 15:22:20" "SEQ" "DNA" "" "" "0000107102" "00106631" "1" "01413" "01413" "2015-10-12 05:19:52" "00006" "2017-07-08 15:22:20" "SEQ" "DNA" "" "" "0000107103" "00106632" "1" "01413" "01413" "2015-10-12 05:15:24" "00006" "2017-07-08 15:22:20" "SEQ" "DNA" "" "" "0000107142" "00106671" "1" "01413" "00006" "2017-07-08 15:42:57" "" "" "SEQ" "DNA" "" "" "0000107143" "00106672" "1" "01413" "00006" "2017-07-08 15:47:20" "" "" "SEQ" "DNA" "" "" "0000107144" "00106673" "1" "01413" "00006" "2017-07-08 15:50:14" "" "" "SEQ" "DNA" "" "" "0000177905" "00177013" "1" "02552" "02552" "2018-08-16 11:44:34" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000249534" "00248430" "1" "01164" "01164" "2019-07-23 18:26:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000292713" "00291545" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000107101" "CHST6" "0000107102" "CHST6" "0000107103" "CHST6" "0000107142" "CHST6" "0000107143" "CHST6" "0000107144" "CHST6" ## 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 = 36 "{{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}}" "0000172847" "1" "90" "16" "75513374" "75513374" "subst" "0" "01413" "CHST6_000002" "g.75513374G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479476G>A" "" "pathogenic" "" "0000172848" "1" "90" "16" "75512943" "75512943" "del" "0" "01413" "CHST6_000003" "g.75512943del" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479045del" "" "pathogenic" "" "0000172849" "2" "90" "16" "75512805" "75512805" "subst" "0" "01413" "CHST6_000001" "g.75512805G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75478907G>A" "" "pathogenic" "" "0000172905" "2" "90" "16" "75512655" "75512655" "subst" "0" "01413" "CHST6_000004" "g.75512655A>G" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.75478757A>G" "" "pathogenic" "" "0000172906" "1" "90" "16" "75512907" "75512907" "subst" "4.139E-6" "01413" "CHST6_000005" "g.75512907C>T" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479009C>T" "" "pathogenic" "" "0000172907" "2" "70" "16" "75513114" "75513114" "subst" "8.3842E-6" "01413" "CHST6_000006" "g.75513114G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479216G>A" "" "likely pathogenic" "" "0000172908" "1" "90" "16" "75513206" "75513206" "subst" "0" "01413" "CHST6_000007" "g.75513206T>C" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479308T>C" "" "pathogenic" "" "0000172909" "2" "70" "16" "75513114" "75513114" "subst" "8.3842E-6" "01413" "CHST6_000006" "g.75513114G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479216G>A" "" "likely pathogenic" "" "0000172910" "1" "90" "16" "75513170" "75513170" "subst" "1.63894E-5" "01413" "CHST6_000008" "g.75513170G>C" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479272G>C" "" "pathogenic" "" "0000172911" "2" "70" "16" "75513114" "75513114" "subst" "8.3842E-6" "01413" "CHST6_000006" "g.75513114G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479216G>A" "" "likely pathogenic" "" "0000172912" "1" "90" "16" "75513632" "75513632" "subst" "0" "01413" "CHST6_000009" "g.75513632G>T" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479734G>T" "" "pathogenic" "" "0000172913" "2" "90" "16" "75513114" "75513114" "subst" "8.3842E-6" "01413" "CHST6_000006" "g.75513114G>A" "" "{PMID:Park 2015:26604660}" "" "" "" "Germline" "" "" "0" "" "" "g.75479216G>A" "" "pathogenic" "" "0000256225" "0" "50" "16" "75513128" "75513128" "subst" "0.000215626" "01943" "CHST6_000012" "g.75513128A>C" "" "" "" "CHST6(NM_021615.5):c.599T>G (p.L200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479230A>C" "" "VUS" "" "0000273558" "0" "50" "16" "75512546" "75512546" "subst" "0.000227761" "01943" "CHST6_000010" "g.75512546C>T" "" "" "" "CHST6(NM_021615.5):c.1181G>A (p.R394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75478648C>T" "" "VUS" "" "0000273559" "0" "10" "16" "75512734" "75512734" "subst" "0.00414299" "01943" "CHST6_000011" "g.75512734C>A" "" "" "" "CHST6(NM_021615.5):c.993G>T (p.Q331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75478836C>A" "" "benign" "" "0000341907" "0" "90" "16" "75513309" "75513309" "subst" "8.20742E-6" "02327" "CHST6_000016" "g.75513309G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479411G>A" "" "pathogenic" "" "0000342033" "0" "10" "16" "75513243" "75513243" "subst" "0.0352644" "02327" "CHST6_000015" "g.75513243G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479345G>C" "" "benign" "" "0000347064" "0" "70" "16" "75512900" "75512900" "subst" "5.78063E-5" "02327" "CHST6_000014" "g.75512900A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75479002A>G" "" "likely pathogenic" "" "0000349778" "0" "70" "16" "75512730" "75512730" "subst" "8.13921E-6" "02327" "CHST6_000013" "g.75512730A>G" "" "" "" "CHST6(NM_021615.5):c.997T>C (p.W333R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75478832A>G" "" "likely pathogenic" "" "0000406007" "0" "70" "16" "75513536" "75513536" "subst" "8.19585E-6" "02552" "CHST6_000017" "g.75513536G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "" "0" "" "" "g.75479638G>A" "" "likely pathogenic" "" "0000559114" "0" "50" "16" "75513540" "75513540" "subst" "0" "02327" "CHST6_000018" "g.75513540G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75479642G>A" "" "VUS" "" "0000578325" "3" "70" "16" "75513201" "75513201" "subst" "0" "01164" "CHST6_000019" "g.75513201C>T" "" "" "" "" "ACMG grading: PP3,PM3,PM2,PP1; consanguineous parents; reported in Yaylacioglu 2016. Mol Vis 22: 1267" "Germline" "" "" "0" "" "" "g.75479303C>T" "" "likely pathogenic" "ACMG" "0000616131" "0" "50" "16" "75512730" "75512730" "subst" "8.13921E-6" "01943" "CHST6_000013" "g.75512730A>G" "" "" "" "CHST6(NM_021615.5):c.997T>C (p.W333R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75478832A>G" "" "VUS" "" "0000616132" "0" "50" "16" "75513240" "75513240" "subst" "0" "01943" "CHST6_000020" "g.75513240C>T" "" "" "" "CHST6(NM_021615.5):c.487G>A (p.E163K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75479342C>T" "" "VUS" "" "0000616133" "0" "30" "16" "75513655" "75513655" "subst" "9.14269E-5" "01943" "CHST6_000021" "g.75513655A>G" "" "" "" "CHST6(NM_021615.5):c.72T>C (p.F24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75479757A>G" "" "likely benign" "" "0000649402" "1" "90" "16" "75513423" "75513423" "subst" "1.22562E-5" "03575" "CHST6_000022" "g.75513423A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121917822}" "Germline" "" "rs121917822" "0" "" "" "g.75479525A>C" "" "pathogenic" "" "0000692137" "0" "30" "16" "75513231" "75513231" "subst" "0.000123085" "01943" "CHST6_000023" "g.75513231G>C" "" "" "" "CHST6(NM_021615.5):c.496C>G (p.R166G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725964" "0" "30" "16" "75512656" "75512656" "subst" "0.000113928" "01943" "CHST6_000024" "g.75512656G>T" "" "" "" "CHST6(NM_021615.5):c.1071C>A (p.G357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725965" "0" "30" "16" "75513106" "75513106" "subst" "1.67926E-5" "01943" "CHST6_000025" "g.75513106C>T" "" "" "" "CHST6(NM_021615.5):c.621G>A (p.V207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854637" "0" "50" "16" "75513311" "75513311" "subst" "8.19793E-6" "01943" "CHST6_000027" "g.75513311G>A" "" "" "" "CHST6(NM_021615.5):c.416C>T (p.P139L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864932" "0" "50" "16" "75512853" "75512853" "subst" "0" "01943" "CHST6_000026" "g.75512853C>G" "" "" "" "CHST6(NM_021615.5):c.874G>C (p.G292R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950728" "0" "50" "16" "75512684" "75512684" "subst" "0.000410907" "02325" "CHST6_000028" "g.75512684A>C" "" "" "" "CHST6(NM_021615.5):c.1043T>G (p.L348R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950729" "0" "50" "16" "75512967" "75512967" "subst" "0" "02325" "CHST6_000029" "g.75512967C>T" "" "" "" "CHST6(NM_021615.5):c.760G>A (p.E254K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968515" "0" "50" "16" "75512928" "75512928" "subst" "3.33467E-5" "02327" "CHST6_000031" "g.75512928G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968516" "0" "90" "16" "75513496" "75513496" "subst" "1.22945E-5" "02327" "CHST6_000032" "g.75513496C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026760" "0" "50" "16" "75513201" "75513201" "subst" "0" "02327" "CHST6_000019" "g.75513201C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CHST6 ## Count = 36 "{{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}}" "0000172847" "00005161" "90" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Ser118Phe)" "3" "0000172848" "00005161" "90" "786" "0" "786" "0" "c.786del" "r.(?)" "p.(Leu264Cysfs*117)" "3" "0000172849" "00005161" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(His308Tyr)" "3" "0000172905" "00005161" "90" "1072" "0" "1072" "0" "c.1072T>C" "r.(?)" "p.(Tyr358His)" "3" "0000172906" "00005161" "90" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Glu274Lys)" "3" "0000172907" "00005161" "70" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205Trp)" "3" "0000172908" "00005161" "90" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Lys174Arg)" "3" "0000172909" "00005161" "70" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205Trp)" "3" "0000172910" "00005161" "90" "557" "0" "557" "0" "c.557C>G" "r.(?)" "p.(Pro186Arg)" "3" "0000172911" "00005161" "70" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205Trp)" "3" "0000172912" "00005161" "90" "95" "0" "95" "0" "c.95C>A" "r.(?)" "p.(Ser32*)" "3" "0000172913" "00005161" "70" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Arg205Trp)" "3" "0000256225" "00005161" "50" "599" "0" "599" "0" "c.599T>G" "r.(?)" "p.(Leu200Arg)" "" "0000273558" "00005161" "50" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" "" "0000273559" "00005161" "10" "993" "0" "993" "0" "c.993G>T" "r.(?)" "p.(Gln331His)" "" "0000341907" "00005161" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140Ter)" "" "0000342033" "00005161" "10" "484" "0" "484" "0" "c.484C>G" "r.(?)" "p.(Arg162Gly)" "" "0000347064" "00005161" "70" "827" "0" "827" "0" "c.827T>C" "r.(?)" "p.(Leu276Pro)" "" "0000349778" "00005161" "70" "997" "0" "997" "0" "c.997T>C" "r.(?)" "p.(Trp333Arg)" "" "0000406007" "00005161" "70" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Pro64Leu)" "" "0000559114" "00005161" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(His63Tyr)" "" "0000578325" "00005161" "70" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.Val176Met" "" "0000616131" "00005161" "50" "997" "0" "997" "0" "c.997T>C" "r.(?)" "p.(Trp333Arg)" "" "0000616132" "00005161" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Glu163Lys)" "" "0000616133" "00005161" "30" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Phe24=)" "" "0000649402" "00005161" "90" "304" "0" "304" "0" "c.304T>G" "r.(?)" "p.(Cys102Gly)" "" "0000692137" "00005161" "30" "496" "0" "496" "0" "c.496C>G" "r.(?)" "p.(Arg166Gly)" "" "0000725964" "00005161" "30" "1071" "0" "1071" "0" "c.1071C>A" "r.(?)" "p.(Gly357=)" "" "0000725965" "00005161" "30" "621" "0" "621" "0" "c.621G>A" "r.(?)" "p.(Val207=)" "" "0000854637" "00005161" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000864932" "00005161" "50" "874" "0" "874" "0" "c.874G>C" "r.(?)" "p.(Gly292Arg)" "" "0000950728" "00005161" "50" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Leu348Arg)" "" "0000950729" "00005161" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Glu254Lys)" "" "0000968515" "00005161" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267Cys)" "" "0000968516" "00005161" "90" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Trp77*)" "" "0001026760" "00005161" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Val176Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000107101" "0000172847" "0000107101" "0000172905" "0000107102" "0000172848" "0000107102" "0000172907" "0000107103" "0000172849" "0000107103" "0000172906" "0000107142" "0000172908" "0000107142" "0000172909" "0000107143" "0000172910" "0000107143" "0000172911" "0000107144" "0000172912" "0000107144" "0000172913" "0000177905" "0000406007" "0000249534" "0000578325" "0000292713" "0000649402"