### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JMJD1C) # 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}}" "JMJD1C" "jumonji domain containing 1C" "10" "q22.1" "unknown" "NG_053187.1" "UD_132319330429" "" "https://www.LOVD.nl/JMJD1C" "" "1" "12313" "221037" "604503" "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/JMJD1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-27 09:25:02" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00010266" "JMJD1C" "transcript variant 2" "002" "NM_004241.2" "" "NP_004232.2" "" "" "" "-664" "7732" "6912" "65028982" "64926985" "" "0000-00-00 00:00:00" "" "" "00025541" "JMJD1C" "transcript variant 1" "005" "NM_032776.1" "" "NP_116165.1" "" "" "" "-300" "8443" "7623" "65225722" "64926985" "00006" "2020-07-27 09:28:06" "" "" ## 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" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00104000" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-119A" "00267028" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00267029" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00267030" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00267031" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00267032" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00267033" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "F" "" "" "" "0" "" "" "" "Pat6" "00267034" "" "" "" "1" "" "00678" "{PMID:Slavotinek 2020:31954878}" "" "F" "" "" "" "0" "" "" "" "Pat7" "00290077" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290078" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290079" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290080" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290081" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362026" "" "" "" "1" "" "00006" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "" "" "" "0" "" "" "" "PME_FI_H02" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00104000" "03381" "00267028" "00198" "00267029" "00198" "00267030" "00198" "00267031" "00198" "00267032" "00198" "00267033" "00198" "00267034" "00198" "00290077" "00198" "00290078" "00198" "00290079" "00198" "00290080" "00198" "00290081" "00198" "00362026" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03381, 04270 ## 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}}" "0000081934" "03381" "00104000" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000232811" "00198" "00267032" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232812" "00198" "00267033" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232813" "00198" "00267034" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232823" "00198" "00267031" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232825" "00198" "00267029" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232831" "00198" "00267028" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000232832" "00198" "00267030" "00678" "Unknown" "" "see paper; ..., autism spectrum disorder, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability, seizures" "" "0000257440" "04270" "00362026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104471" "00104000" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000268156" "00267028" "1" "00678" "00678" "2019-10-30 06:03:21" "" "" "SEQ-NG" "DNA" "" "" "0000268157" "00267029" "1" "00678" "00678" "2019-10-30 06:25:24" "" "" "SEQ-NG" "DNA" "" "" "0000268158" "00267030" "1" "00678" "00678" "2019-10-30 06:45:29" "" "" "SEQ-NG" "DNA" "" "" "0000268159" "00267031" "1" "00678" "00678" "2019-10-30 06:48:53" "" "" "SEQ-NG" "DNA" "" "" "0000268160" "00267032" "1" "00678" "00678" "2019-10-30 06:51:43" "" "" "SEQ-NG" "DNA" "" "" "0000268161" "00267033" "1" "00678" "00678" "2019-10-30 06:53:49" "" "" "SEQ-NG" "DNA" "" "" "0000268162" "00267034" "1" "00678" "00678" "2019-10-30 06:56:02" "" "" "SEQ-NG" "DNA" "" "" "0000291245" "00290077" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291246" "00290078" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291247" "00290079" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291248" "00290080" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291249" "00290081" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363254" "00362026" "1" "00006" "00006" "2021-04-14 11:32:13" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 86 "{{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}}" "0000169291" "0" "70" "10" "64952725" "64952725" "subst" "3.65729E-5" "00587" "JMJD1C_000001" "g.64952725C>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_032776.2(JMJD1C):c.6049G>C p.(Glu2017Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.63192965C>G" "" "likely pathogenic" "" "0000283474" "0" "50" "10" "64966357" "64966357" "subst" "0" "02329" "JMJD1C_000002" "g.64966357T>C" "" "" "" "JMJD1C(NM_032776.3):c.5072A>G (p.N1691S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63206597T>C" "" "VUS" "" "0000540180" "0" "50" "10" "64927837" "64927837" "subst" "0.00414139" "01943" "JMJD1C_000003" "g.64927837C>T" "" "" "" "JMJD1C(NM_032776.2):c.7591G>A (p.E2531K), JMJD1C(NM_032776.3):c.7591G>A (p.E2531K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63168077C>T" "" "VUS" "" "0000540181" "0" "30" "10" "64927837" "64927837" "subst" "0.00414139" "02325" "JMJD1C_000003" "g.64927837C>T" "" "" "" "JMJD1C(NM_032776.2):c.7591G>A (p.E2531K), JMJD1C(NM_032776.3):c.7591G>A (p.E2531K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63168077C>T" "" "likely benign" "" "0000540182" "0" "50" "10" "64943215" "64943215" "subst" "0" "02327" "JMJD1C_000004" "g.64943215G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63183455G>C" "" "VUS" "" "0000540184" "0" "30" "10" "64949209" "64949209" "subst" "0.000872006" "01943" "JMJD1C_000006" "g.64949209A>G" "" "" "" "JMJD1C(NM_032776.2):c.6292-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63189449A>G" "" "likely benign" "" "0000540185" "0" "50" "10" "64950833" "64950833" "subst" "0.000410302" "01943" "JMJD1C_000007" "g.64950833C>G" "" "" "" "JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q), JMJD1C(NM_032776.3):c.6112G>C (p.E2038Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63191073C>G" "" "VUS" "" "0000540186" "0" "50" "10" "64950833" "64950833" "subst" "0.000410302" "02325" "JMJD1C_000007" "g.64950833C>G" "" "" "" "JMJD1C(NM_032776.2):c.6112G>C (p.E2038Q), JMJD1C(NM_032776.3):c.6112G>C (p.E2038Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63191073C>G" "" "VUS" "" "0000540187" "0" "30" "10" "64950841" "64950841" "subst" "0.0001747" "01943" "JMJD1C_000008" "g.64950841T>G" "" "" "" "JMJD1C(NM_032776.2):c.6104A>C (p.Q2035P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63191081T>G" "" "likely benign" "" "0000540188" "0" "50" "10" "64967249" "64967249" "subst" "0.000869961" "01943" "JMJD1C_000009" "g.64967249T>A" "" "" "" "JMJD1C(NM_032776.2):c.4180A>T (p.T1394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63207489T>A" "" "VUS" "" "0000540189" "0" "50" "10" "64973487" "64973487" "subst" "0" "02327" "JMJD1C_000010" "g.64973487G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63213727G>A" "" "VUS" "" "0000540190" "0" "30" "10" "64974535" "64974535" "subst" "0.00302709" "01943" "JMJD1C_000011" "g.64974535C>T" "" "" "" "JMJD1C(NM_032776.2):c.1392G>A (p.S464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63214775C>T" "" "likely benign" "" "0000540191" "0" "30" "10" "64975079" "64975079" "subst" "0.00121072" "02325" "JMJD1C_000012" "g.64975079C>T" "" "" "" "JMJD1C(NM_032776.3):c.959G>A (p.S320N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63215319C>T" "" "likely benign" "" "0000600830" "0" "50" "10" "64966357" "64966357" "subst" "0" "00678" "JMJD1C_000013" "g.64966357T>C" "" "{PMID:Slavotinek 2020:31954878}" "" "NM_001322252.2:c.5072A>G (Asn1691Ser)" "description variant incorrect" "De novo" "" "" "0" "" "" "g.63206597T>C" "" "VUS" "ACMG" "0000600831" "0" "50" "10" "64968222" "64968262" "del" "0" "00678" "JMJD1C_000027" "g.64968222_64968262del" "" "{PMID:Slavotinek 2020:31954878}" "" "NM_001322252.1:c.3167_3207del41 (Ser1056Cysfs*10)" "description variant incorrect" "De novo" "" "" "0" "" "" "g.63208462_63208502del" "" "VUS" "ACMG" "0000600833" "0" "50" "10" "64974829" "64974845" "del" "0" "00678" "JMJD1C_000026" "g.64974829_64974845del" "" "{PMID:Slavotinek 2020:31954878}" "" "NM_001322252.1:c.1082_1098del17 (Lys361Thrfs*4)" "description variant incorrect" "De novo" "" "" "0" "" "" "g.63215069_63215085del" "" "VUS" "ACMG" "0000600834" "0" "50" "10" "64974827" "64974827" "subst" "0" "00678" "JMJD1C_000023" "g.64974827A>G" "" "{PMID:Slavotinek 2020:31954878}" "" "" "" "De novo" "" "" "0" "" "" "g.63215067A>G" "" "VUS" "ACMG" "0000600835" "0" "50" "10" "65024509" "65024509" "subst" "0" "00678" "JMJD1C_000024" "g.65024509C>T" "" "{PMID:Slavotinek 2020:31954878}" "" "" "" "De novo" "" "" "0" "" "" "g.63264749C>T" "" "VUS" "ACMG" "0000600836" "0" "50" "10" "65140085" "65140085" "del" "0" "00678" "JMJD1C_000025" "g.65140085del" "" "{PMID:Slavotinek 2020:31954878}" "" "326delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63380325del" "" "VUS" "ACMG" "0000612514" "0" "30" "10" "64927838" "64927838" "subst" "0.000106001" "01943" "JMJD1C_000014" "g.64927838G>A" "" "" "" "JMJD1C(NM_032776.2):c.7590C>T (p.H2530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63168078G>A" "" "likely benign" "" "0000612515" "0" "50" "10" "64973469" "64973469" "subst" "4.06865E-6" "02325" "JMJD1C_000017" "g.64973469C>A" "" "" "" "JMJD1C(NM_032776.3):c.2458G>T (p.A820S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63213709C>A" "" "VUS" "" "0000622395" "0" "50" "10" "64949097" "64949097" "subst" "1.21907E-5" "02325" "JMJD1C_000015" "g.64949097T>C" "" "" "" "JMJD1C(NM_032776.3):c.6401A>G (p.E2134G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63189337T>C" "" "VUS" "" "0000647934" "1" "30" "10" "64927837" "64927837" "subst" "0.00414139" "03575" "JMJD1C_000003" "g.64927837C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs71508957}" "Germline" "" "rs71508957" "0" "" "" "g.63168077C>T" "" "likely benign" "" "0000647935" "1" "10" "10" "64952835" "64952835" "subst" "0.0252375" "03575" "JMJD1C_000018" "g.64952835G>A" "68/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous, no homozygous; {DB:CLININrs41274064}" "Germline" "" "rs41274064" "0" "" "" "g.63193075G>A" "" "benign" "" "0000647936" "1" "10" "10" "64973978" "64973978" "subst" "0.00874473" "03575" "JMJD1C_000019" "g.64973978G>A" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs41274068}" "Germline" "" "rs41274068" "0" "" "" "g.63214218G>A" "" "benign" "" "0000647937" "1" "10" "10" "64974017" "64974017" "subst" "0.00235924" "03575" "JMJD1C_000020" "g.64974017T>C" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs117647164}" "Germline" "" "rs117647164" "0" "" "" "g.63214257T>C" "" "benign" "" "0000647938" "1" "10" "10" "64974156" "64974156" "subst" "0.0290215" "03575" "JMJD1C_000021" "g.64974156T>C" "16/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs41274072}" "Germline" "" "rs41274072" "0" "" "" "g.63214396T>C" "" "benign" "" "0000656505" "0" "50" "10" "65024469" "65024469" "subst" "7.96325E-5" "02325" "JMJD1C_000022" "g.65024469A>T" "" "" "" "JMJD1C(NM_032776.3):c.389T>A (p.F130Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63264709A>T" "" "VUS" "" "0000674987" "0" "50" "10" "64952917" "64952917" "subst" "0" "00678" "JMJD1C_000028" "g.64952917A>C" "" "{PMID:Slavotinek 2020:31954878}" "" "NM_001322252.1:c.5863-6T>G" "" "De novo" "" "" "0" "" "" "g.63193157A>C" "" "VUS" "" "0000678856" "0" "30" "10" "64967864" "64967864" "subst" "6.50803E-5" "01943" "JMJD1C_000029" "g.64967864A>G" "" "" "" "JMJD1C(NM_032776.2):c.3565T>C (p.L1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678857" "0" "70" "10" "65225421" "65225421" "subst" "0" "02327" "JMJD1C_000030" "g.65225421A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690733" "0" "30" "10" "64966941" "64966941" "subst" "5.69277E-5" "01943" "JMJD1C_000031" "g.64966941A>G" "" "" "" "JMJD1C(NM_032776.2):c.4488T>C (p.S1496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690734" "0" "30" "10" "64967841" "64967841" "subst" "0.000536974" "01943" "JMJD1C_000032" "g.64967841T>A" "" "" "" "JMJD1C(NM_032776.2):c.3588A>T (p.T1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722856" "0" "30" "10" "64946152" "64946152" "subst" "3.66203E-5" "01943" "JMJD1C_000033" "g.64946152T>C" "" "" "" "JMJD1C(NM_032776.2):c.6571-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722857" "0" "50" "10" "64949170" "64949170" "subst" "0" "02329" "JMJD1C_000016" "g.64949170C>T" "" "" "" "JMJD1C(NM_032776.3):c.6328G>A (p.D2110N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722858" "0" "50" "10" "64968946" "64968946" "subst" "8.13345E-6" "02325" "JMJD1C_000034" "g.64968946T>A" "" "" "" "JMJD1C(NM_032776.3):c.2744A>T (p.D915V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722859" "0" "30" "10" "64973572" "64973572" "subst" "2.03426E-5" "01943" "JMJD1C_000035" "g.64973572A>C" "" "" "" "JMJD1C(NM_032776.2):c.2355T>G (p.G785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722860" "0" "30" "10" "64974316" "64974316" "subst" "8.13901E-6" "01943" "JMJD1C_000036" "g.64974316C>T" "" "" "" "JMJD1C(NM_032776.2):c.1611G>A (p.M537I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722861" "0" "50" "10" "64974703" "64974703" "subst" "0" "01943" "JMJD1C_000037" "g.64974703T>G" "" "" "" "JMJD1C(NM_032776.2):c.1224A>C (p.K408N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763830" "1" "70" "10" "64966547" "64966547" "subst" "0" "00006" "JMJD1C_000038" "g.64966547T>G" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "4882A>C (Ser1628Arg)" "ACMG PM2, PP3, BP1" "Germline/De novo (untested)" "" "" "0" "" "" "g.63206787T>G" "" "VUS" "ACMG" "0000804466" "0" "50" "10" "64928233" "64928233" "subst" "4.10968E-6" "02325" "JMJD1C_000039" "g.64928233G>T" "" "" "" "JMJD1C(NM_032776.3):c.7495C>A (p.L2499I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804467" "0" "30" "10" "64966360" "64966360" "subst" "1.79488E-5" "02325" "JMJD1C_000040" "g.64966360C>T" "" "" "" "JMJD1C(NM_032776.3):c.5069G>A (p.S1690N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852515" "0" "50" "10" "64952835" "64952835" "subst" "2.84481E-5" "01943" "JMJD1C_000042" "g.64952835G>C" "" "" "" "JMJD1C(NM_032776.2):c.5939C>G (p.P1980R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852516" "0" "50" "10" "64966946" "64966946" "subst" "0.000113837" "02325" "JMJD1C_000043" "g.64966946T>C" "" "" "" "JMJD1C(NM_032776.3):c.4483A>G (p.K1495E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852517" "0" "50" "10" "64974807" "64974807" "subst" "0.000499134" "01943" "JMJD1C_000048" "g.64974807C>G" "" "" "" "JMJD1C(NM_032776.2):c.1120G>C (p.D374H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861935" "0" "30" "10" "64946148" "64946149" "dup" "0" "01943" "JMJD1C_000041" "g.64946148_64946149dup" "" "" "" "JMJD1C(NM_032776.2):c.6571-4_6571-3dupTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861936" "0" "30" "10" "64967143" "64967143" "subst" "0.000479874" "01943" "JMJD1C_000044" "g.64967143G>A" "" "" "" "JMJD1C(NM_032776.2):c.4286C>T (p.S1429L), JMJD1C(NM_032776.3):c.4286C>T (p.S1429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861937" "0" "50" "10" "64967313" "64967313" "subst" "0" "01943" "JMJD1C_000045" "g.64967313A>C" "" "" "" "JMJD1C(NM_032776.2):c.4116T>G (p.F1372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861938" "0" "30" "10" "64968480" "64968480" "subst" "0" "02325" "JMJD1C_000046" "g.64968480C>T" "" "" "" "JMJD1C(NM_032776.3):c.2949G>A (p.R983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861939" "0" "50" "10" "64973502" "64973502" "subst" "8.13835E-6" "01943" "JMJD1C_000047" "g.64973502G>A" "" "" "" "JMJD1C(NM_032776.2):c.2425C>T (p.L809F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889177" "0" "50" "10" "64960339" "64960339" "subst" "0" "02325" "JMJD1C_000049" "g.64960339C>T" "" "" "" "JMJD1C(NM_032776.3):c.5173G>A (p.G1725R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889178" "0" "50" "10" "64974659" "64974661" "del" "0" "02325" "JMJD1C_000050" "g.64974659_64974661del" "" "" "" "JMJD1C(NM_032776.3):c.1268_1270delGAG (p.G423del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913290" "0" "50" "10" "64937515" "64937515" "subst" "0" "02325" "JMJD1C_000051" "g.64937515C>A" "" "" "" "JMJD1C(NM_032776.3):c.7186G>T (p.G2396W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925166" "0" "50" "10" "64949103" "64949103" "subst" "0.00107679" "02325" "JMJD1C_000052" "g.64949103T>A" "" "" "" "JMJD1C(NM_032776.3):c.6395A>T (p.K2132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925167" "0" "50" "10" "64973843" "64973843" "subst" "0" "02325" "JMJD1C_000053" "g.64973843G>A" "" "" "" "JMJD1C(NM_032776.3):c.2084C>T (p.T695I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998425" "0" "50" "10" "64928305" "64928305" "subst" "0" "01804" "JMJD1C_000054" "g.64928305T>A" "" "" "" "JMJD1C(NM_032776.1):c.7423A>T (p.(Ile2475Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998426" "0" "30" "10" "64946031" "64946031" "subst" "4.07631E-5" "01804" "JMJD1C_000055" "g.64946031C>T" "" "" "" "JMJD1C(NM_032776.1):c.6683G>A (p.(Ser2228Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998427" "0" "30" "10" "64946050" "64946050" "subst" "0" "01804" "JMJD1C_000056" "g.64946050G>C" "" "" "" "JMJD1C(NM_032776.1):c.6664C>G (p.(Leu2222Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998428" "0" "50" "10" "64957320" "64957320" "subst" "0" "01804" "JMJD1C_000057" "g.64957320T>C" "" "" "" "JMJD1C(NM_032776.1):c.5495A>G (p.(Lys1832Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998429" "0" "30" "10" "64966589" "64966589" "subst" "0" "01804" "JMJD1C_000058" "g.64966589T>C" "" "" "" "JMJD1C(NM_032776.1):c.4840A>G (p.(Asn1614Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998430" "0" "50" "10" "64966699" "64966699" "subst" "3.67894E-5" "01804" "JMJD1C_000059" "g.64966699T>C" "" "" "" "JMJD1C(NM_032776.1):c.4730A>G (p.(Glu1577Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998431" "0" "50" "10" "64967603" "64967603" "subst" "0" "01804" "JMJD1C_000060" "g.64967603A>G" "" "" "" "JMJD1C(NM_032776.1):c.3826T>C (p.(Trp1276Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998432" "0" "50" "10" "64968121" "64968121" "subst" "3.66083E-5" "02325" "JMJD1C_000061" "g.64968121T>C" "" "" "" "JMJD1C(NM_032776.3):c.3308A>G (p.N1103S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998433" "0" "30" "10" "64973396" "64973396" "subst" "2.84613E-5" "01804" "JMJD1C_000062" "g.64973396A>T" "" "" "" "JMJD1C(NM_032776.1):c.2531T>A (p.(Leu844His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998434" "0" "50" "10" "64973490" "64973490" "subst" "0" "01804" "JMJD1C_000063" "g.64973490G>A" "" "" "" "JMJD1C(NM_032776.1):c.2437C>T (p.(Pro813Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998435" "0" "30" "10" "64973769" "64973769" "subst" "2.43904E-5" "01804" "JMJD1C_000064" "g.64973769T>C" "" "" "" "JMJD1C(NM_032776.1):c.2158A>G (p.(Ile720Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998436" "0" "50" "10" "64973852" "64973852" "subst" "0" "01804" "JMJD1C_000065" "g.64973852C>T" "" "" "" "JMJD1C(NM_032776.1):c.2075G>A (p.(Arg692Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998437" "0" "30" "10" "64974715" "64974715" "subst" "2.96557E-5" "01804" "JMJD1C_000066" "g.64974715T>G" "" "" "" "JMJD1C(NM_032776.1):c.1212A>C (p.(Lys404Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998438" "0" "30" "10" "64975211" "64975211" "subst" "2.03303E-5" "01804" "JMJD1C_000067" "g.64975211T>C" "" "" "" "JMJD1C(NM_032776.1):c.827A>G (p.(His276Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998439" "0" "30" "10" "65225300" "65225300" "subst" "0" "02325" "JMJD1C_000068" "g.65225300G>A" "" "" "" "JMJD1C(NM_032776.3):c.123C>T (p.V41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998440" "0" "30" "10" "65225352" "65225352" "subst" "4.24409E-6" "01804" "JMJD1C_000069" "g.65225352C>G" "" "" "" "JMJD1C(NM_032776.1):c.71G>C (p.(Arg24Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998441" "0" "30" "10" "65225356" "65225356" "subst" "0" "01804" "JMJD1C_000070" "g.65225356C>T" "" "" "" "JMJD1C(NM_032776.1):c.67G>A (p.(Ala23Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014639" "0" "50" "10" "64973414" "64973414" "subst" "0" "02325" "JMJD1C_000071" "g.64973414T>C" "" "" "" "JMJD1C(NM_032776.3):c.2513A>G (p.Q838R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025750" "0" "50" "10" "64957171" "64957171" "subst" "0" "02327" "JMJD1C_000072" "g.64957171C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025751" "0" "50" "10" "64968868" "64968868" "subst" "4.06471E-6" "02325" "JMJD1C_000073" "g.64968868T>C" "" "" "" "JMJD1C(NM_032776.3):c.2822A>G (p.H941R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037937" "0" "50" "10" "64950745" "64950745" "subst" "3.24955E-5" "01804" "JMJD1C_000074" "g.64950745C>T" "" "" "" "JMJD1C(NM_032776.3):c.6200G>A (p.(Arg2067Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037938" "0" "50" "10" "64960237" "64960237" "subst" "3.26304E-5" "01804" "JMJD1C_000075" "g.64960237G>A" "" "" "" "JMJD1C(NM_032776.3):c.5275C>T (p.(Arg1759Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037939" "0" "30" "10" "64967143" "64967143" "subst" "0.000479874" "02325" "JMJD1C_000044" "g.64967143G>A" "" "" "" "JMJD1C(NM_032776.2):c.4286C>T (p.S1429L), JMJD1C(NM_032776.3):c.4286C>T (p.S1429L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053554" "0" "50" "10" "64950782" "64950782" "subst" "0" "01804" "JMJD1C_000076" "g.64950782G>C" "" "" "" "JMJD1C(NM_032776.3):c.6163C>G (p.(Leu2055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053555" "0" "30" "10" "64952914" "64952914" "subst" "4.49556E-5" "01804" "JMJD1C_000077" "g.64952914A>G" "" "" "" "JMJD1C(NM_032776.3):c.5863-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065229" "0" "50" "10" "64936106" "64936106" "subst" "0" "02325" "JMJD1C_000078" "g.64936106A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065230" "0" "50" "10" "64957287" "64957287" "subst" "1.32312E-5" "02325" "JMJD1C_000079" "g.64957287C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065231" "0" "50" "10" "64967558" "64967558" "subst" "4.06524E-6" "02325" "JMJD1C_000080" "g.64967558C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065232" "0" "50" "10" "64967635" "64967635" "subst" "0" "02325" "JMJD1C_000081" "g.64967635T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065233" "0" "50" "10" "64973348" "64973348" "subst" "0.000374002" "02325" "JMJD1C_000082" "g.64973348T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065234" "0" "50" "10" "64974785" "64974785" "subst" "1.24033E-5" "02325" "JMJD1C_000083" "g.64974785G>A" "" "" "" "" "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 JMJD1C ## Count = 172 "{{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}}" "0000169291" "00010266" "00" "5338" "0" "5338" "0" "c.5338G>C" "r.(?)" "p.(Glu1780Gln)" "" "0000169291" "00025541" "70" "6049" "0" "6049" "0" "c.6049G>C" "r.(?)" "p.(Glu2017Gln)" "" "0000283474" "00010266" "50" "4415" "0" "4415" "0" "c.4415A>G" "r.(?)" "p.(Asn1472Ser)" "" "0000283474" "00025541" "50" "5072" "0" "5072" "0" "c.5072A>G" "r.(?)" "p.(Asn1691Ser)" "" "0000540180" "00010266" "50" "6880" "0" "6880" "0" "c.6880G>A" "r.(?)" "p.(Glu2294Lys)" "" "0000540180" "00025541" "50" "7591" "0" "7591" "0" "c.7591G>A" "r.(?)" "p.(Glu2531Lys)" "" "0000540181" "00010266" "30" "6880" "0" "6880" "0" "c.6880G>A" "r.(?)" "p.(Glu2294Lys)" "" "0000540181" "00025541" "30" "7591" "0" "7591" "0" "c.7591G>A" "r.(?)" "p.(Glu2531Lys)" "" "0000540182" "00010266" "50" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ser2122Ter)" "" "0000540182" "00025541" "50" "7076" "0" "7076" "0" "c.7076C>G" "r.(?)" "p.(Ser2359Ter)" "" "0000540184" "00010266" "30" "5581" "-3" "5581" "-3" "c.5581-3T>C" "r.spl?" "p.?" "" "0000540184" "00025541" "30" "6292" "-3" "6292" "-3" "c.6292-3T>C" "r.spl?" "p.?" "" "0000540185" "00010266" "50" "5401" "0" "5401" "0" "c.5401G>C" "r.(?)" "p.(Glu1801Gln)" "" "0000540185" "00025541" "50" "6112" "0" "6112" "0" "c.6112G>C" "r.(?)" "p.(Glu2038Gln)" "" "0000540186" "00010266" "50" "5401" "0" "5401" "0" "c.5401G>C" "r.(?)" "p.(Glu1801Gln)" "" "0000540186" "00025541" "50" "6112" "0" "6112" "0" "c.6112G>C" "r.(?)" "p.(Glu2038Gln)" "" "0000540187" "00010266" "30" "5393" "0" "5393" "0" "c.5393A>C" "r.(?)" "p.(Gln1798Pro)" "" "0000540187" "00025541" "30" "6104" "0" "6104" "0" "c.6104A>C" "r.(?)" "p.(Gln2035Pro)" "" "0000540188" "00010266" "50" "3523" "0" "3523" "0" "c.3523A>T" "r.(?)" "p.(Thr1175Ser)" "" "0000540188" "00025541" "50" "4180" "0" "4180" "0" "c.4180A>T" "r.(?)" "p.(Thr1394Ser)" "" "0000540189" "00010266" "50" "1783" "0" "1783" "0" "c.1783C>T" "r.(?)" "p.(Arg595Ter)" "" "0000540189" "00025541" "50" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814Ter)" "" "0000540190" "00010266" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Ser245=)" "" "0000540190" "00025541" "30" "1392" "0" "1392" "0" "c.1392G>A" "r.(?)" "p.(Ser464=)" "" "0000540191" "00010266" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Ser101Asn)" "" "0000540191" "00025541" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Ser320Asn)" "" "0000600830" "00010266" "50" "4415" "0" "4415" "0" "c.4415A>G" "r.(?)" "p.(Asn1472Ser)" "" "0000600830" "00025541" "50" "5072" "0" "5072" "0" "c.5072A>G" "r.(?)" "p.(Asn1691Ser)" "" "0000600831" "00010266" "50" "2510" "0" "2550" "0" "c.2510_2550del" "r.(?)" "p.(Ser837Cysfs*10)" "" "0000600831" "00025541" "50" "3167" "0" "3207" "0" "c.3167_3207del" "r.(?)" "p.(Ser1056Cysfs*10)" "" "0000600833" "00010266" "50" "425" "0" "441" "0" "c.425_441del" "r.(?)" "p.(Lys142Thrfs*4)" "" "0000600833" "00025541" "50" "1082" "0" "1098" "0" "c.1082_1098del" "r.(?)" "p.(Lys361Thrfs*4)" "" "0000600834" "00010266" "50" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Leu148Pro)" "" "0000600834" "00025541" "50" "1100" "0" "1100" "0" "c.1100T>C" "r.(?)" "p.(Leu367Pro)" "" "0000600835" "00010266" "50" "-105" "3914" "-105" "3914" "c.-105+3914G>A" "r.(=)" "p.(=)" "" "0000600835" "00025541" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Val117Ile)" "" "0000600836" "00010266" "50" "-111767" "0" "-111767" "0" "c.-111767del" "r.(=)" "p.(=)" "" "0000600836" "00025541" "50" "326" "0" "326" "0" "c.326del" "r.(?)" "p.(Pro109Leufs*3)" "" "0000612514" "00010266" "30" "6879" "0" "6879" "0" "c.6879C>T" "r.(?)" "p.(His2293=)" "" "0000612514" "00025541" "30" "7590" "0" "7590" "0" "c.7590C>T" "r.(?)" "p.(His2530=)" "" "0000612515" "00010266" "50" "1801" "0" "1801" "0" "c.1801G>T" "r.(?)" "p.(Ala601Ser)" "" "0000612515" "00025541" "50" "2458" "0" "2458" "0" "c.2458G>T" "r.(?)" "p.(Ala820Ser)" "" "0000622395" "00010266" "50" "5690" "0" "5690" "0" "c.5690A>G" "r.(?)" "p.(Glu1897Gly)" "" "0000622395" "00025541" "50" "6401" "0" "6401" "0" "c.6401A>G" "r.(?)" "p.(Glu2134Gly)" "" "0000647934" "00010266" "30" "6880" "0" "6880" "0" "c.6880G>A" "r.(?)" "p.(Glu2294Lys)" "" "0000647934" "00025541" "30" "7591" "0" "7591" "0" "c.7591G>A" "r.(?)" "p.(Glu2531Lys)" "" "0000647935" "00010266" "10" "5228" "0" "5228" "0" "c.5228C>T" "r.(?)" "p.(Pro1743Leu)" "" "0000647935" "00025541" "10" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Pro1980Leu)" "" "0000647936" "00010266" "10" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Ile)" "" "0000647936" "00025541" "10" "1949" "0" "1949" "0" "c.1949C>T" "r.(?)" "p.(Thr650Ile)" "" "0000647937" "00010266" "10" "1253" "0" "1253" "0" "c.1253A>G" "r.(?)" "p.(Lys418Arg)" "" "0000647937" "00025541" "10" "1910" "0" "1910" "0" "c.1910A>G" "r.(?)" "p.(Lys637Arg)" "" "0000647938" "00010266" "10" "1114" "0" "1114" "0" "c.1114A>G" "r.(?)" "p.(Met372Val)" "" "0000647938" "00025541" "10" "1771" "0" "1771" "0" "c.1771A>G" "r.(?)" "p.(Met591Val)" "" "0000656505" "00010266" "50" "-105" "3954" "-105" "3954" "c.-105+3954T>A" "r.(=)" "p.(=)" "" "0000656505" "00025541" "50" "389" "0" "389" "0" "c.389T>A" "r.(?)" "p.(Phe130Tyr)" "" "0000674987" "00010266" "50" "5206" "-60" "5206" "-60" "c.5206-60T>G" "r.(?)" "p.(=)" "" "0000674987" "00025541" "50" "5863" "-6" "5863" "-6" "c.5863-6T>G" "r.(?)" "p.(=)" "" "0000678856" "00010266" "30" "2908" "0" "2908" "0" "c.2908T>C" "r.(?)" "p.(Leu970=)" "" "0000678856" "00025541" "30" "3565" "0" "3565" "0" "c.3565T>C" "r.(?)" "p.(Leu1189=)" "" "0000678857" "00010266" "70" "-197103" "0" "-197103" "0" "c.-197103T>C" "r.(?)" "p.(=)" "" "0000678857" "00025541" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000690733" "00010266" "30" "3831" "0" "3831" "0" "c.3831T>C" "r.(?)" "p.(Ser1277=)" "" "0000690733" "00025541" "30" "4488" "0" "4488" "0" "c.4488T>C" "r.(?)" "p.(Ser1496=)" "" "0000690734" "00010266" "30" "2931" "0" "2931" "0" "c.2931A>T" "r.(?)" "p.(Thr977=)" "" "0000690734" "00025541" "30" "3588" "0" "3588" "0" "c.3588A>T" "r.(?)" "p.(Thr1196=)" "" "0000722856" "00010266" "30" "5860" "-9" "5860" "-9" "c.5860-9A>G" "r.(=)" "p.(=)" "" "0000722856" "00025541" "30" "6571" "-9" "6571" "-9" "c.6571-9A>G" "r.(=)" "p.(=)" "" "0000722857" "00010266" "50" "5617" "0" "5617" "0" "c.5617G>A" "r.(?)" "p.(Asp1873Asn)" "" "0000722857" "00025541" "50" "6328" "0" "6328" "0" "c.6328G>A" "r.(?)" "p.(Asp2110Asn)" "" "0000722858" "00010266" "50" "2087" "0" "2087" "0" "c.2087A>T" "r.(?)" "p.(Asp696Val)" "" "0000722858" "00025541" "50" "2744" "0" "2744" "0" "c.2744A>T" "r.(?)" "p.(Asp915Val)" "" "0000722859" "00010266" "30" "1698" "0" "1698" "0" "c.1698T>G" "r.(?)" "p.(Gly566=)" "" "0000722859" "00025541" "30" "2355" "0" "2355" "0" "c.2355T>G" "r.(?)" "p.(Gly785=)" "" "0000722860" "00010266" "30" "954" "0" "954" "0" "c.954G>A" "r.(?)" "p.(Met318Ile)" "" "0000722860" "00025541" "30" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Met537Ile)" "" "0000722861" "00010266" "50" "567" "0" "567" "0" "c.567A>C" "r.(?)" "p.(Lys189Asn)" "" "0000722861" "00025541" "50" "1224" "0" "1224" "0" "c.1224A>C" "r.(?)" "p.(Lys408Asn)" "" "0000763830" "00010266" "70" "4225" "0" "4225" "0" "c.4225A>C" "r.(?)" "p.(Ser1409Arg)" "" "0000763830" "00025541" "70" "4882" "0" "4882" "0" "c.4882A>C" "r.(?)" "p.(Ser1628Arg)" "" "0000804466" "00010266" "50" "6784" "0" "6784" "0" "c.6784C>A" "r.(?)" "p.(Leu2262Ile)" "" "0000804466" "00025541" "50" "7495" "0" "7495" "0" "c.7495C>A" "r.(?)" "p.(Leu2499Ile)" "" "0000804467" "00010266" "30" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Ser1471Asn)" "" "0000804467" "00025541" "30" "5069" "0" "5069" "0" "c.5069G>A" "r.(?)" "p.(Ser1690Asn)" "" "0000852515" "00010266" "50" "5228" "0" "5228" "0" "c.5228C>G" "r.(?)" "p.(Pro1743Arg)" "" "0000852515" "00025541" "50" "5939" "0" "5939" "0" "c.5939C>G" "r.(?)" "p.(Pro1980Arg)" "" "0000852516" "00010266" "50" "3826" "0" "3826" "0" "c.3826A>G" "r.(?)" "p.(Lys1276Glu)" "" "0000852516" "00025541" "50" "4483" "0" "4483" "0" "c.4483A>G" "r.(?)" "p.(Lys1495Glu)" "" "0000852517" "00010266" "50" "463" "0" "463" "0" "c.463G>C" "r.(?)" "p.(Asp155His)" "" "0000852517" "00025541" "50" "1120" "0" "1120" "0" "c.1120G>C" "r.(?)" "p.(Asp374His)" "" "0000861935" "00010266" "30" "5860" "-4" "5860" "-3" "c.5860-4_5860-3dup" "r.spl?" "p.?" "" "0000861935" "00025541" "30" "6571" "-4" "6571" "-3" "c.6571-4_6571-3dup" "r.spl?" "p.?" "" "0000861936" "00010266" "30" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Ser1210Leu)" "" "0000861936" "00025541" "30" "4286" "0" "4286" "0" "c.4286C>T" "r.(?)" "p.(Ser1429Leu)" "" "0000861937" "00010266" "50" "3459" "0" "3459" "0" "c.3459T>G" "r.(?)" "p.(Phe1153Leu)" "" "0000861937" "00025541" "50" "4116" "0" "4116" "0" "c.4116T>G" "r.(?)" "p.(Phe1372Leu)" "" "0000861938" "00010266" "30" "2292" "0" "2292" "0" "c.2292G>A" "r.(?)" "p.(=)" "" "0000861938" "00025541" "30" "2949" "0" "2949" "0" "c.2949G>A" "r.(?)" "p.(Arg983=)" "" "0000861939" "00010266" "50" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Leu590Phe)" "" "0000861939" "00025541" "50" "2425" "0" "2425" "0" "c.2425C>T" "r.(?)" "p.(Leu809Phe)" "" "0000889177" "00010266" "50" "4516" "0" "4516" "0" "c.4516G>A" "r.(?)" "p.(Gly1506Arg)" "" "0000889177" "00025541" "50" "5173" "0" "5173" "0" "c.5173G>A" "r.(?)" "p.(Gly1725Arg)" "" "0000889178" "00010266" "50" "611" "0" "613" "0" "c.611_613del" "r.(?)" "p.(Gly204del)" "" "0000889178" "00025541" "50" "1268" "0" "1270" "0" "c.1268_1270del" "r.(?)" "p.(Gly423del)" "" "0000913290" "00010266" "50" "6475" "0" "6475" "0" "c.6475G>T" "r.(?)" "p.(Gly2159Trp)" "" "0000913290" "00025541" "50" "7186" "0" "7186" "0" "c.7186G>T" "r.(?)" "p.(Gly2396Trp)" "" "0000925166" "00010266" "50" "5684" "0" "5684" "0" "c.5684A>T" "r.(?)" "p.(Lys1895Ile)" "" "0000925166" "00025541" "50" "6395" "0" "6395" "0" "c.6395A>T" "r.(?)" "p.(Lys2132Ile)" "" "0000925167" "00010266" "50" "1427" "0" "1427" "0" "c.1427C>T" "r.(?)" "p.(Thr476Ile)" "" "0000925167" "00025541" "50" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Thr695Ile)" "" "0000998425" "00010266" "50" "6712" "0" "6712" "0" "c.6712A>T" "r.(?)" "p.(Ile2238Phe)" "" "0000998425" "00025541" "50" "7423" "0" "7423" "0" "c.7423A>T" "r.(?)" "p.(Ile2475Phe)" "" "0000998426" "00010266" "30" "5972" "0" "5972" "0" "c.5972G>A" "r.(?)" "p.(Ser1991Asn)" "" "0000998426" "00025541" "30" "6683" "0" "6683" "0" "c.6683G>A" "r.(?)" "p.(Ser2228Asn)" "" "0000998427" "00010266" "30" "5953" "0" "5953" "0" "c.5953C>G" "r.(?)" "p.(Leu1985Val)" "" "0000998427" "00025541" "30" "6664" "0" "6664" "0" "c.6664C>G" "r.(?)" "p.(Leu2222Val)" "" "0000998428" "00010266" "50" "4838" "0" "4838" "0" "c.4838A>G" "r.(?)" "p.(Lys1613Arg)" "" "0000998428" "00025541" "50" "5495" "0" "5495" "0" "c.5495A>G" "r.(?)" "p.(Lys1832Arg)" "" "0000998429" "00010266" "30" "4183" "0" "4183" "0" "c.4183A>G" "r.(?)" "p.(Asn1395Asp)" "" "0000998429" "00025541" "30" "4840" "0" "4840" "0" "c.4840A>G" "r.(?)" "p.(Asn1614Asp)" "" "0000998430" "00010266" "50" "4073" "0" "4073" "0" "c.4073A>G" "r.(?)" "p.(Glu1358Gly)" "" "0000998430" "00025541" "50" "4730" "0" "4730" "0" "c.4730A>G" "r.(?)" "p.(Glu1577Gly)" "" "0000998431" "00010266" "50" "3169" "0" "3169" "0" "c.3169T>C" "r.(?)" "p.(Trp1057Arg)" "" "0000998431" "00025541" "50" "3826" "0" "3826" "0" "c.3826T>C" "r.(?)" "p.(Trp1276Arg)" "" "0000998432" "00010266" "50" "2651" "0" "2651" "0" "c.2651A>G" "r.(?)" "p.(Asn884Ser)" "" "0000998432" "00025541" "50" "3308" "0" "3308" "0" "c.3308A>G" "r.(?)" "p.(Asn1103Ser)" "" "0000998433" "00010266" "30" "1874" "0" "1874" "0" "c.1874T>A" "r.(?)" "p.(Leu625His)" "" "0000998433" "00025541" "30" "2531" "0" "2531" "0" "c.2531T>A" "r.(?)" "p.(Leu844His)" "" "0000998434" "00010266" "50" "1780" "0" "1780" "0" "c.1780C>T" "r.(?)" "p.(Pro594Ser)" "" "0000998434" "00025541" "50" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(Pro813Ser)" "" "0000998435" "00010266" "30" "1501" "0" "1501" "0" "c.1501A>G" "r.(?)" "p.(Ile501Val)" "" "0000998435" "00025541" "30" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Ile720Val)" "" "0000998436" "00010266" "50" "1418" "0" "1418" "0" "c.1418G>A" "r.(?)" "p.(Arg473Gln)" "" "0000998436" "00025541" "50" "2075" "0" "2075" "0" "c.2075G>A" "r.(?)" "p.(Arg692Gln)" "" "0000998437" "00010266" "30" "555" "0" "555" "0" "c.555A>C" "r.(?)" "p.(Lys185Asn)" "" "0000998437" "00025541" "30" "1212" "0" "1212" "0" "c.1212A>C" "r.(?)" "p.(Lys404Asn)" "" "0000998438" "00010266" "30" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(His57Arg)" "" "0000998438" "00025541" "30" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(His276Arg)" "" "0000998439" "00010266" "30" "-196982" "0" "-196982" "0" "c.-196982C>T" "r.(?)" "p.(=)" "" "0000998439" "00025541" "30" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(=)" "" "0000998440" "00010266" "30" "-197034" "0" "-197034" "0" "c.-197034G>C" "r.(?)" "p.(=)" "" "0000998440" "00025541" "30" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.(Arg24Pro)" "" "0000998441" "00010266" "30" "-197038" "0" "-197038" "0" "c.-197038G>A" "r.(?)" "p.(=)" "" "0000998441" "00025541" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Ala23Thr)" "" "0001014639" "00010266" "50" "1856" "0" "1856" "0" "c.1856A>G" "r.(?)" "p.(Gln619Arg)" "" "0001014639" "00025541" "50" "2513" "0" "2513" "0" "c.2513A>G" "r.(?)" "p.(Gln838Arg)" "" "0001025750" "00010266" "50" "4987" "0" "4987" "0" "c.4987G>C" "r.(?)" "p.(Asp1663His)" "" "0001025750" "00025541" "50" "5644" "0" "5644" "0" "c.5644G>C" "r.(?)" "p.(Asp1882His)" "" "0001025751" "00010266" "50" "2165" "0" "2165" "0" "c.2165A>G" "r.(?)" "p.(His722Arg)" "" "0001025751" "00025541" "50" "2822" "0" "2822" "0" "c.2822A>G" "r.(?)" "p.(His941Arg)" "" "0001037937" "00010266" "50" "5489" "0" "5489" "0" "c.5489G>A" "r.(?)" "p.(Arg1830Gln)" "" "0001037937" "00025541" "50" "6200" "0" "6200" "0" "c.6200G>A" "r.(?)" "p.(Arg2067Gln)" "" "0001037938" "00010266" "50" "4618" "0" "4618" "0" "c.4618C>T" "r.(?)" "p.(Arg1540Trp)" "" "0001037938" "00025541" "50" "5275" "0" "5275" "0" "c.5275C>T" "r.(?)" "p.(Arg1759Trp)" "" "0001037939" "00010266" "30" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Ser1210Leu)" "" "0001037939" "00025541" "30" "4286" "0" "4286" "0" "c.4286C>T" "r.(?)" "p.(Ser1429Leu)" "" "0001053554" "00010266" "50" "5452" "0" "5452" "0" "c.5452C>G" "r.(?)" "p.(Leu1818Val)" "" "0001053554" "00025541" "50" "6163" "0" "6163" "0" "c.6163C>G" "r.(?)" "p.(Leu2055Val)" "" "0001053555" "00010266" "30" "5206" "-57" "5206" "-57" "c.5206-57T>C" "r.(=)" "p.(=)" "" "0001053555" "00025541" "30" "5863" "-3" "5863" "-3" "c.5863-3T>C" "r.spl?" "p.?" "" "0001065229" "00010266" "50" "6641" "0" "6641" "0" "c.6641T>C" "r.(?)" "p.(Ile2214Thr)" "" "0001065229" "00025541" "50" "7352" "0" "7352" "0" "c.7352T>C" "r.(?)" "p.(Ile2451Thr)" "" "0001065230" "00010266" "50" "4871" "0" "4871" "0" "c.4871G>A" "r.(?)" "p.(Arg1624Gln)" "" "0001065230" "00025541" "50" "5528" "0" "5528" "0" "c.5528G>A" "r.(?)" "p.(Arg1843Gln)" "" "0001065231" "00010266" "50" "3214" "0" "3214" "0" "c.3214G>A" "r.(?)" "p.(Val1072Met)" "" "0001065231" "00025541" "50" "3871" "0" "3871" "0" "c.3871G>A" "r.(?)" "p.(Val1291Met)" "" "0001065232" "00010266" "50" "3137" "0" "3137" "0" "c.3137A>G" "r.(?)" "p.(Lys1046Arg)" "" "0001065232" "00025541" "50" "3794" "0" "3794" "0" "c.3794A>G" "r.(?)" "p.(Lys1265Arg)" "" "0001065233" "00010266" "50" "1922" "0" "1922" "0" "c.1922A>G" "r.(?)" "p.(Tyr641Cys)" "" "0001065233" "00025541" "50" "2579" "0" "2579" "0" "c.2579A>G" "r.(?)" "p.(Tyr860Cys)" "" "0001065234" "00010266" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ser162Leu)" "" "0001065234" "00025541" "50" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ser381Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000104471" "0000169291" "0000268156" "0000600830" "0000268157" "0000600831" "0000268158" "0000674987" "0000268159" "0000600833" "0000268160" "0000600834" "0000268161" "0000600835" "0000268162" "0000600836" "0000291245" "0000647934" "0000291246" "0000647935" "0000291247" "0000647936" "0000291248" "0000647937" "0000291249" "0000647938" "0000363254" "0000763830"