### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUPT20HL1) # 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}}" "SUPT20HL1" "SUPT20H like 1" "X" "p22.11" "unknown" "NC_000023.10" "UD_145628330157" "" "https://www.LOVD.nl/SUPT20HL1" "" "1" "30773" "100130302" "" "1" "1" "1" "1" "Alias FAM48B1.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SUPT20HL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2017-06-26 23:20:33" "" "" "00000" "2025-05-05 21:14:00" ## 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}}" "00024273" "SUPT20HL1" "suppressor of Ty 20 homolog (S. cerevisiae)-like 1" "002" "NM_001136234.1" "" "NP_001129706.1" "" "" "" "1" "2664" "2664" "24380878" "24383541" "00006" "2017-06-26 23:21:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "" "" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00105906" "" "" "" "12" "" "02120" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7" "M" "no" "Thailand" "" "0" "" "" "AsianO" "27380894-Fam1PatV7" "00105917" "" "" "" "4" "" "00006" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "" "" "" "Thailand" "" "0" "" "" "" "27380894-con" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00105906" "05296" "00105917" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05296 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000083823" "05296" "00105906" "02120" "Familial, X-linked dominant" "" "osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000106376" "00105906" "1" "02120" "02120" "2017-06-26 15:02:36" "00006" "2017-06-26 23:13:11" "SEQ;SEQ-NG" "DNA" "blood" "" "0000106388" "00105917" "1" "00006" "00006" "2017-06-26 23:25:55" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000106376" "MBTPS2" "0000106388" "SUPT20HL1" ## 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 = 49 "{{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}}" "0000171990" "21" "50" "X" "24381409" "24381409" "subst" "0.0289224" "00006" "SUPT20HL1_000001" "g.24381409G>A" "" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "" "" "" "Germline" "" "" "0" "" "" "g.24363292G>A" "" "VUS" "" "0000171991" "0" "30" "X" "24381409" "24381409" "subst" "0.0289224" "00006" "SUPT20HL1_000001" "g.24381409G>A" "4/22 chromosomes" "{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}" "" "" "" "Germline" "" "" "0" "" "" "g.24363292G>A" "" "likely benign" "" "0000256091" "0" "50" "X" "24382372" "24382372" "subst" "0" "01943" "SUPT20HL1_000006" "g.24382372A>G" "" "" "" "SUPT20HL1(NM_001136234.2):c.1573A>G (p.I525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364255A>G" "" "VUS" "" "0000256435" "0" "50" "X" "24381684" "24381684" "subst" "0" "01943" "SUPT20HL1_000005" "g.24381684A>C" "" "" "" "SUPT20HL1(NM_001136234.2):c.885A>C (p.Q295H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24363567A>C" "" "VUS" "" "0000315926" "0" "50" "X" "24381616" "24381616" "subst" "0" "01943" "SUPT20HL1_000004" "g.24381616G>C" "" "" "" "SUPT20HL1(NM_001136234.2):c.817G>C (p.V273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24363499G>C" "" "VUS" "" "0000333464" "0" "30" "X" "24381433" "24381433" "subst" "0.00312043" "01804" "SUPT20HL1_000003" "g.24381433C>G" "" "" "" "SUPT20HL1(NM_001136234.1):c.556C>G (p.(Gln186Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24363316C>G" "" "likely benign" "" "0000333465" "0" "50" "X" "24382420" "24382428" "dup" "0" "01804" "SUPT20HL1_000008" "g.24382420_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGCTGC (p.(Ala503_Ala505dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364303_24364311dup" "" "VUS" "" "0000333467" "0" "50" "X" "24382417" "24382428" "dup" "0" "01804" "SUPT20HL1_000009" "g.24382417_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGCTGCTGC (p.(Ala502_Ala505dup)), SUPT20HL1(NM_001136234.2):c.1618_1629dupGCTGCTGCTGCT (p.A540_A543dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364300_24364311dup" "" "VUS" "" "0000333469" "0" "50" "X" "24382414" "24382428" "dup" "0" "01804" "SUPT20HL1_000010" "g.24382414_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGCTGCTGCTGC (p.(Ile499_Ala500insAlaAlaAlaAlaAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364297_24364311dup" "" "VUS" "" "0000333471" "0" "50" "X" "24382408" "24382428" "dup" "0" "01804" "SUPT20HL1_000011" "g.24382408_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGCTGCTGCTGCTGCTGC (p.(Ala503_Ala504insAlaAlaAlaAlaAlaAlaAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364291_24364311dup" "" "VUS" "" "0000333472" "0" "50" "X" "24382423" "24382428" "dup" "0" "01804" "SUPT20HL1_000012" "g.24382423_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGC (p.(Ala500_Ala501insAlaAla))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364306_24364311dup" "" "VUS" "" "0000333473" "0" "50" "X" "24382426" "24382428" "dup" "0" "01804" "SUPT20HL1_000014" "g.24382426_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGC (p.(Ala500dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364309_24364311dup" "" "VUS" "" "0000333474" "0" "30" "X" "24382423" "24382428" "del" "0" "01804" "SUPT20HL1_000015" "g.24382423_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1502del (p.(Ala502_Ala503del)), SUPT20HL1(NM_001136234.2):c.1624_1629delGCTGCT (p.A542_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364306_24364311del" "" "likely benign" "" "0000333475" "0" "50" "X" "24382420" "24382428" "del" "0" "01804" "SUPT20HL1_000016" "g.24382420_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1505del (p.(Ala503_Ala505del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364303_24364311del" "" "VUS" "" "0000333476" "0" "50" "X" "24382417" "24382428" "del" "0" "01804" "SUPT20HL1_000017" "g.24382417_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1508del (p.(Ala504_Ala507del)), SUPT20HL1(NM_001136234.2):c.1618_1629delGCTGCTGCTGCT (p.A540_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364300_24364311del" "" "VUS" "" "0000333478" "0" "50" "X" "24382414" "24382428" "del" "0" "01804" "SUPT20HL1_000018" "g.24382414_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1511del (p.(Ala505_Ala509del)), SUPT20HL1(NM_001136234.2):c.1615_1629delGCTGCTGCTGCTGCT (p.A539_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364297_24364311del" "" "VUS" "" "0000333480" "0" "50" "X" "24382411" "24382428" "del" "0" "01804" "SUPT20HL1_000019" "g.24382411_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1514del (p.(Ala506_Ala511del)), SUPT20HL1(NM_001136234.2):c.1612_1629delGCTGCTGCTGCTGCTGCT (p.A538_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364294_24364311del" "" "VUS" "" "0000333482" "0" "50" "X" "24382405" "24382428" "del" "0" "01804" "SUPT20HL1_000020" "g.24382405_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1520del (p.(Ala508_Ala515del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364288_24364311del" "" "VUS" "" "0000333483" "0" "30" "X" "24382402" "24382428" "del" "0" "01804" "SUPT20HL1_000021" "g.24382402_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1523del (p.(Ala509_Ala517del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364285_24364311del" "" "likely benign" "" "0000333487" "0" "30" "X" "24382426" "24382428" "del" "0" "01804" "SUPT20HL1_000022" "g.24382426_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1503_1505del (p.(Ala503del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364309_24364311del" "" "likely benign" "" "0000333496" "0" "50" "X" "24382401" "24382402" "ins" "0" "01804" "SUPT20HL1_000030" "g.24382401_24382402insATT" "" "" "" "SUPT20HL1(NM_001136234.1):c.1523_1524insTAT (p.(Ala508_Ala509insIle))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364284_24364285insATT" "" "VUS" "" "0000333499" "0" "30" "X" "24382426" "24382440" "del" "0" "01804" "SUPT20HL1_000033" "g.24382426_24382440del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1544_1558del (p.(Ala517_Ala521del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364309_24364323del" "" "likely benign" "" "0000333501" "0" "50" "X" "24382435" "24382435" "subst" "0" "01804" "SUPT20HL1_000035" "g.24382435C>G" "" "" "" "SUPT20HL1(NM_001136234.1):c.1558C>G (p.(Pro520Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364318C>G" "" "VUS" "" "0000333502" "0" "50" "X" "24382435" "24382443" "del" "0" "01804" "SUPT20HL1_000036" "g.24382435_24382443del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1558_1566del (p.(Pro520_Leu522del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364318_24364326del" "" "VUS" "" "0000333505" "0" "30" "X" "24382442" "24382459" "del" "0" "01804" "SUPT20HL1_000037" "g.24382442_24382459del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1559_1576del (p.(Leu522_Ala527del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364325_24364342del" "" "likely benign" "" "0000333508" "0" "50" "X" "24382955" "24382955" "subst" "8.97082E-5" "01804" "SUPT20HL1_000039" "g.24382955C>G" "" "" "" "SUPT20HL1(NM_001136234.1):c.2078C>G (p.(Ser693Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24364838C>G" "" "VUS" "" "0000575358" "0" "30" "X" "24380945" "24380945" "subst" "0.000431643" "01943" "SUPT20HL1_000042" "g.24380945C>G" "" "" "" "SUPT20HL1(NM_001136234.2):c.146C>G (p.P49R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24362828C>G" "" "likely benign" "" "0000575367" "0" "30" "X" "24382417" "24382417" "del" "0" "01804" "SUPT20HL1_000051" "g.24382417del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1540del (p.(Ala514LeufsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364300del" "" "likely benign" "" "0000575368" "0" "30" "X" "24382419" "24382453" "del" "0" "01804" "SUPT20HL1_000052" "g.24382419_24382453del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1542_1576del (p.(Ala515CysfsTer54))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364302_24364336del" "" "likely benign" "" "0000575371" "0" "30" "X" "24382423" "24382434" "del" "0" "01804" "SUPT20HL1_000053" "g.24382423_24382434del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1541_1552del (p.(Ala516_Ala519del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364306_24364317del" "" "likely benign" "" "0000575375" "0" "30" "X" "24382441" "24382443" "del" "0" "01804" "SUPT20HL1_000057" "g.24382441_24382443del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1564_1566del (p.(Leu522del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364324_24364326del" "" "likely benign" "" "0000575376" "0" "30" "X" "24382442" "24382453" "del" "0" "01804" "SUPT20HL1_000058" "g.24382442_24382453del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1565_1576del (p.(Leu522_Ala526delinsPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364325_24364336del" "" "likely benign" "" "0000575378" "0" "30" "X" "24382750" "24382750" "subst" "0.000411969" "01943" "SUPT20HL1_000060" "g.24382750A>T" "" "" "" "SUPT20HL1(NM_001136234.1):c.1873A>T (p.(Ser625Cys)), SUPT20HL1(NM_001136234.2):c.1951A>T (p.S651C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364633A>T" "" "likely benign" "" "0000575379" "0" "30" "X" "24382750" "24382750" "subst" "0.000411969" "01804" "SUPT20HL1_000060" "g.24382750A>T" "" "" "" "SUPT20HL1(NM_001136234.1):c.1873A>T (p.(Ser625Cys)), SUPT20HL1(NM_001136234.2):c.1951A>T (p.S651C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364633A>T" "" "likely benign" "" "0000619430" "0" "50" "X" "24382414" "24382428" "del" "0" "01943" "SUPT20HL1_000018" "g.24382414_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1511del (p.(Ala505_Ala509del)), SUPT20HL1(NM_001136234.2):c.1615_1629delGCTGCTGCTGCTGCT (p.A539_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364297_24364311del" "" "VUS" "" "0000619431" "0" "30" "X" "24382423" "24382428" "del" "0" "01943" "SUPT20HL1_000015" "g.24382423_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1502del (p.(Ala502_Ala503del)), SUPT20HL1(NM_001136234.2):c.1624_1629delGCTGCT (p.A542_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24364306_24364311del" "" "likely benign" "" "0000619432" "0" "50" "X" "24383483" "24383483" "subst" "1.6826E-5" "01943" "SUPT20HL1_000061" "g.24383483T>C" "" "" "" "SUPT20HL1(NM_001136234.2):c.2684T>C (p.V895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24365366T>C" "" "VUS" "" "0000682361" "0" "10" "X" "24382512" "24382523" "dup" "0" "01943" "SUPT20HL1_000062" "g.24382512_24382523dup" "" "" "" "SUPT20HL1(NM_001136234.2):c.1713_1724dupTCCTGCTCCTGC (p.P572_A575dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682362" "0" "30" "X" "24382791" "24382791" "subst" "1.68845E-5" "01943" "SUPT20HL1_000063" "g.24382791C>T" "" "" "" "SUPT20HL1(NM_001136234.2):c.1992C>T (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693536" "0" "50" "X" "24382417" "24382428" "del" "0" "01943" "SUPT20HL1_000017" "g.24382417_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1508del (p.(Ala504_Ala507del)), SUPT20HL1(NM_001136234.2):c.1618_1629delGCTGCTGCTGCT (p.A540_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693537" "0" "30" "X" "24383256" "24383256" "subst" "0" "01943" "SUPT20HL1_000064" "g.24383256G>A" "" "" "" "SUPT20HL1(NM_001136234.2):c.2457G>A (p.P819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728788" "0" "30" "X" "24382859" "24382859" "subst" "6.73404E-5" "01943" "SUPT20HL1_000065" "g.24382859G>C" "" "" "" "SUPT20HL1(NM_001136234.2):c.2060G>C (p.G687A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728789" "0" "50" "X" "24383328" "24383336" "dup" "0" "01943" "SUPT20HL1_000066" "g.24383328_24383336dup" "" "" "" "SUPT20HL1(NM_001136234.2):c.2529_2537dupGCCGCAGCA (p.Q843_Q845dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810259" "0" "50" "X" "24382411" "24382428" "del" "0" "01943" "SUPT20HL1_000019" "g.24382411_24382428del" "" "" "" "SUPT20HL1(NM_001136234.1):c.1497_1514del (p.(Ala506_Ala511del)), SUPT20HL1(NM_001136234.2):c.1612_1629delGCTGCTGCTGCTGCTGCT (p.A538_A543del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810260" "0" "10" "X" "24382417" "24382428" "dup" "0" "01943" "SUPT20HL1_000009" "g.24382417_24382428dup" "" "" "" "SUPT20HL1(NM_001136234.1):c.1496_1497insTGCTGCTGCTGC (p.(Ala502_Ala505dup)), SUPT20HL1(NM_001136234.2):c.1618_1629dupGCTGCTGCTGCT (p.A540_A543dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867287" "0" "50" "X" "24382538" "24382555" "dup" "0" "01943" "SUPT20HL1_000067" "g.24382538_24382555dup" "" "" "" "SUPT20HL1(NM_001136234.2):c.1739_1756dupTAGCTGCTGCTCCTGCTG (p.V580_A585dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867288" "0" "30" "X" "24383368" "24383368" "subst" "6.12479E-6" "01943" "SUPT20HL1_000068" "g.24383368T>C" "" "" "" "SUPT20HL1(NM_001136234.2):c.2569T>C (p.L857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984613" "0" "30" "X" "24383343" "24383343" "subst" "6.99076E-5" "01804" "SUPT20HL1_000069" "g.24383343G>T" "" "" "" "SUPT20HL1(NM_001136234.2):c.2544G>T (p.(Gln848His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044265" "0" "30" "X" "24380837" "24380837" "subst" "4.18424E-5" "01804" "SUPT20HL1_000070" "g.24380837A>G" "" "" "" "SUPT20HL1(NM_001136234.2):c.38A>G (p.(His13Arg))" "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 SUPT20HL1 ## Count = 49 "{{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}}" "0000171990" "00024273" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "1" "0000171991" "00024273" "30" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Val178Met)" "1" "0000256091" "00024273" "50" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Ile499Val)" "" "0000256435" "00024273" "50" "807" "0" "807" "0" "c.807A>C" "r.(?)" "p.(Gln269His)" "" "0000315926" "00024273" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Val247Leu)" "" "0000333464" "00024273" "30" "556" "0" "556" "0" "c.556C>G" "r.(?)" "p.(Gln186Glu)" "" "0000333465" "00024273" "50" "1543" "0" "1551" "0" "c.1543_1551dup" "r.(?)" "p.(Ala515_Ala517dup)" "" "0000333467" "00024273" "50" "1540" "0" "1551" "0" "c.1540_1551dup" "r.(?)" "p.(Ala514_Ala517dup)" "" "0000333469" "00024273" "50" "1537" "0" "1551" "0" "c.1537_1551dup" "r.(?)" "p.(Ala513_Ala517dup)" "" "0000333471" "00024273" "50" "1531" "0" "1551" "0" "c.1531_1551dup" "r.(?)" "p.(Ala511_Ala517dup)" "" "0000333472" "00024273" "50" "1546" "0" "1551" "0" "c.1546_1551dup" "r.(?)" "p.(Ala516_Ala517dup)" "" "0000333473" "00024273" "50" "1549" "0" "1551" "0" "c.1549_1551dup" "r.(?)" "p.(Ala517dup)" "" "0000333474" "00024273" "30" "1546" "0" "1551" "0" "c.1546_1551del" "r.(?)" "p.(Ala516_Ala517del)" "" "0000333475" "00024273" "50" "1543" "0" "1551" "0" "c.1543_1551del" "r.(?)" "p.(Ala515_Ala517del)" "" "0000333476" "00024273" "50" "1540" "0" "1551" "0" "c.1540_1551del" "r.(?)" "p.(Ala514_Ala517del)" "" "0000333478" "00024273" "50" "1537" "0" "1551" "0" "c.1537_1551del" "r.(?)" "p.(Ala513_Ala517del)" "" "0000333480" "00024273" "50" "1534" "0" "1551" "0" "c.1534_1551del" "r.(?)" "p.(Ala512_Ala517del)" "" "0000333482" "00024273" "50" "1528" "0" "1551" "0" "c.1528_1551del" "r.(?)" "p.(Ala510_Ala517del)" "" "0000333483" "00024273" "30" "1525" "0" "1551" "0" "c.1525_1551del" "r.(?)" "p.(Ala509_Ala517del)" "" "0000333487" "00024273" "30" "1549" "0" "1551" "0" "c.1549_1551del" "r.(?)" "p.(Ala517del)" "" "0000333496" "00024273" "50" "1524" "0" "1525" "0" "c.1524_1525insATT" "r.(?)" "p.(Ala508_Ala509insIle)" "" "0000333499" "00024273" "30" "1549" "0" "1563" "0" "c.1549_1563del" "r.(?)" "p.(Ala517_Ala521del)" "" "0000333501" "00024273" "50" "1558" "0" "1558" "0" "c.1558C>G" "r.(?)" "p.(Pro520Ala)" "" "0000333502" "00024273" "50" "1558" "0" "1566" "0" "c.1558_1566del" "r.(?)" "p.(Pro520_Leu522del)" "" "0000333505" "00024273" "30" "1565" "0" "1582" "0" "c.1565_1582del" "r.(?)" "p.(Leu522_Ala527del)" "" "0000333508" "00024273" "50" "2078" "0" "2078" "0" "c.2078C>G" "r.(?)" "p.(Ser693Trp)" "" "0000575358" "00024273" "30" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Pro23Arg)" "" "0000575367" "00024273" "30" "1540" "0" "1540" "0" "c.1540del" "r.(?)" "p.(Ala514LeufsTer9)" "" "0000575368" "00024273" "30" "1542" "0" "1576" "0" "c.1542_1576del" "r.(?)" "p.(Ala515CysfsTer54)" "" "0000575371" "00024273" "30" "1546" "0" "1557" "0" "c.1546_1557del" "r.(?)" "p.(Ala516_Ala519del)" "" "0000575375" "00024273" "30" "1564" "0" "1566" "0" "c.1564_1566del" "r.(?)" "p.(Leu522del)" "" "0000575376" "00024273" "30" "1565" "0" "1576" "0" "c.1565_1576del" "r.(?)" "p.(Leu522_Ala526delinsPro)" "" "0000575378" "00024273" "30" "1873" "0" "1873" "0" "c.1873A>T" "r.(?)" "p.(Ser625Cys)" "" "0000575379" "00024273" "30" "1873" "0" "1873" "0" "c.1873A>T" "r.(?)" "p.(Ser625Cys)" "" "0000619430" "00024273" "50" "1537" "0" "1551" "0" "c.1537_1551del" "r.(?)" "p.(Ala513_Ala517del)" "" "0000619431" "00024273" "30" "1546" "0" "1551" "0" "c.1546_1551del" "r.(?)" "p.(Ala516_Ala517del)" "" "0000619432" "00024273" "50" "2606" "0" "2606" "0" "c.2606T>C" "r.(?)" "p.(Val869Ala)" "" "0000682361" "00024273" "10" "1635" "0" "1646" "0" "c.1635_1646dup" "r.(?)" "p.(Pro546_Ala549dup)" "" "0000682362" "00024273" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Pro638=)" "" "0000693536" "00024273" "50" "1540" "0" "1551" "0" "c.1540_1551del" "r.(?)" "p.(Ala514_Ala517del)" "" "0000693537" "00024273" "30" "2379" "0" "2379" "0" "c.2379G>A" "r.(?)" "p.(Pro793=)" "" "0000728788" "00024273" "30" "1982" "0" "1982" "0" "c.1982G>C" "r.(?)" "p.(Gly661Ala)" "" "0000728789" "00024273" "50" "2451" "0" "2459" "0" "c.2451_2459dup" "r.(?)" "p.(Gln817_Gln819dup)" "" "0000810259" "00024273" "50" "1534" "0" "1551" "0" "c.1534_1551del" "r.(?)" "p.(Ala512_Ala517del)" "" "0000810260" "00024273" "10" "1540" "0" "1551" "0" "c.1540_1551dup" "r.(?)" "p.(Ala514_Ala517dup)" "" "0000867287" "00024273" "50" "1661" "0" "1678" "0" "c.1661_1678dup" "r.(?)" "p.(Val554_Ala559dup)" "" "0000867288" "00024273" "30" "2491" "0" "2491" "0" "c.2491T>C" "r.(?)" "p.(Leu831=)" "" "0000984613" "00024273" "30" "2466" "0" "2466" "0" "c.2466G>T" "r.(?)" "p.(Gln822His)" "" "0001044265" "00024273" "30" "-41" "0" "-41" "0" "c.-41A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000106376" "0000171990" "0000106388" "0000171991"