### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CSMD1) # 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}}" "CSMD1" "CUB and Sushi multiple domains 1" "8" "p23.2" "unknown" "NC_000008.10" "UD_134753326557" "" "https://www.LOVD.nl/CSMD1" "" "1" "14026" "64478" "608397" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-01-04 00:00:00" "00006" "2017-06-29 16:04:13" "00000" "2025-11-01 13:22:20" ## 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}}" "00000700" "CSMD1" "CUB and Sushi multiple domains 1" "001" "NM_033225.5" "" "NP_150094.5" "" "" "" "-390" "13927" "10695" "2792875" "4852328" "00000" "2012-09-13 12:47:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00927" "-" "cancer, colorectal, somatic" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00106641" "" "" "" "1" "" "02076" "" "" "M" "?" "United States" "" "0" "" "" "European American" "" "00106642" "" "" "" "1" "" "02076" "" "" "M" "?" "United States" "" "0" "" "" "European American" "" "00106643" "" "" "" "1" "" "02076" "" "" "M" "?" "United States" "" "0" "" "" "European American" "" "00106644" "" "" "" "1" "" "02076" "" "" "M" "?" "United States" "" "0" "" "" "European American" "" "00106645" "" "" "" "1" "" "02076" "" "" "M" "?" "United States" "" "0" "" "" "European American" "" "00106646" "" "" "" "1" "" "02076" "" "" "F" "?" "United States" "" "0" "" "" "European American" "" "00334969" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H70" "00379711" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0026" "00379712" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0027" "00379713" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0029" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00106641" "00927" "00106642" "00927" "00106643" "00927" "00106644" "00927" "00106645" "00927" "00106646" "00927" "00334969" "00198" "00379711" "04214" "00379712" "04214" "00379713" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00927, 01157, 04214 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000084447" "00927" "00106641" "02076" "Isolated (sporadic)" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000084448" "00927" "00106642" "02076" "Isolated (sporadic)" "71y" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "0000084449" "00927" "00106643" "02076" "Isolated (sporadic)" "19y" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "0000084450" "00927" "00106644" "02076" "Isolated (sporadic)" "75y" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "0000084451" "00927" "00106645" "02076" "Isolated (sporadic)" "64y" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "0000084452" "00927" "00106646" "02076" "Isolated (sporadic)" "52y" "cancer, colorectal" "" "" "" "" "" "" "" "" "" "" "" "0000252716" "00198" "00334969" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000273556" "04214" "00379711" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273557" "04214" "00379712" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000273558" "04214" "00379713" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000107111" "00106641" "0" "02076" "02076" "2012-04-20 21:06:04" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000107112" "00106642" "0" "02076" "02076" "2012-04-20 21:26:28" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000107113" "00106643" "0" "02076" "02076" "2012-04-20 21:21:27" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000107114" "00106644" "0" "02076" "02076" "2012-04-20 21:14:22" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000107115" "00106645" "0" "02076" "02076" "2012-04-20 21:17:48" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000107116" "00106646" "0" "02076" "02076" "2012-04-20 21:11:13" "" "" "SEQ;SEQ-NG-R" "DNA" "" "" "0000336200" "00334969" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000380913" "00379711" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000380914" "00379712" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" "0000380915" "00379713" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000107111" "CSMD1" "0000107112" "CSMD1" "0000107113" "CSMD1" "0000107114" "CSMD1" "0000107115" "CSMD1" "0000107116" "CSMD1" "0000336200" "CSMD1" "0000336200" "HIST1H3B" "0000380913" "SAG" "0000380914" "SEMA4A" "0000380915" "SEMA4A" ## 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 = 47 "{{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}}" "0000004575" "3" "50" "8" "3942072" "3942072" "subst" "0" "00037" "CSMD1_000021" "g.3942072G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.4084550G>T" "" "VUS" "" "0000004576" "3" "50" "8" "4368225" "4368225" "subst" "0" "00037" "CSMD1_000022" "g.4368225C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.4510703C>A" "" "VUS" "" "0000004577" "3" "50" "8" "4368256" "4368256" "subst" "0" "00037" "CSMD1_000023" "g.4368256T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.4510734T>C" "" "VUS" "" "0000172857" "0" "90" "8" "4851922" "4851922" "subst" "0" "02076" "CSMD1_000010" "g.4851922C>A" "45.9% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.4994400C>A" "" "pathogenic" "" "0000172858" "0" "90" "8" "3889468" "3889468" "subst" "0" "02076" "CSMD1_000009" "g.3889468C>T" "21.8% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.4031946C>T" "" "pathogenic" "" "0000172859" "0" "90" "8" "3267040" "3267040" "subst" "7.89233E-5" "02076" "CSMD1_000016" "g.3267040G>A" "49.1% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3409518G>A" "" "pathogenic" "" "0000172860" "0" "90" "8" "3265665" "3265665" "subst" "0" "02076" "CSMD1_000008" "g.3265665G>T" "28.7% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3408143G>T" "" "pathogenic" "" "0000172861" "0" "50" "8" "3265619" "3265619" "subst" "0" "02076" "CSMD1_000015" "g.3265619T>G" "33.7% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3408097T>G" "" "VUS" "" "0000172862" "0" "90" "8" "3265577" "3265577" "subst" "3.25108E-5" "02076" "CSMD1_000007" "g.3265577C>T" "31% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3408055C>T" "" "pathogenic" "" "0000172863" "0" "90" "8" "3216691" "3216691" "subst" "0" "02076" "CSMD1_000006" "g.3216691G>C" "41.9% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3359169G>C" "" "pathogenic" "" "0000172864" "0" "90" "8" "3165911" "3165911" "subst" "0" "02076" "CSMD1_000012" "g.3165911G>T" "27.3% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3308389G>T" "" "pathogenic" "" "0000172865" "0" "10" "8" "3141850" "3141850" "subst" "8.15308E-6" "02076" "CSMD1_000005" "g.3141850G>A" "33.9% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3284328G>A" "" "benign" "" "0000172866" "0" "50" "8" "3141735" "3141735" "subst" "0" "02076" "CSMD1_000004" "g.3141735T>C" "28.6% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3284213T>C" "" "VUS" "" "0000172867" "0" "90" "8" "3046419" "3046419" "subst" "1.06194E-5" "02076" "CSMD1_000013" "g.3046419G>A" "32.2% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3188897G>A" "" "pathogenic" "" "0000172868" "0" "90" "8" "2967782" "2967782" "subst" "0" "02076" "CSMD1_000011" "g.2967782A>G" "30.5% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3110260A>G" "" "pathogenic" "" "0000172869" "0" "90" "8" "2944669" "2944669" "subst" "0" "02076" "CSMD1_000014" "g.2944669C>T" "23.8% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.3087147C>T" "" "pathogenic" "" "0000172870" "0" "50" "8" "2824162" "2824162" "subst" "0" "02076" "CSMD1_000003" "g.2824162C>A" "25.1% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.2966640C>A" "" "VUS" "" "0000172871" "0" "90" "8" "2823344" "2823344" "subst" "9.97523E-5" "02076" "CSMD1_000002" "g.2823344C>T" "25.1% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.2965822C>T" "" "pathogenic" "" "0000172872" "0" "90" "8" "2813254" "2813254" "subst" "2.44049E-5" "02076" "CSMD1_000001" "g.2813254G>A" "30% NGS reads" "" "" "" "" "Somatic" "" "" "0" "" "" "g.2955732G>A" "" "pathogenic" "" "0000256482" "0" "50" "8" "3038704" "3038704" "subst" "0" "01943" "CSMD1_000026" "g.3038704A>C" "" "" "" "CSMD1(NM_033225.6):c.5653T>G (p.S1885A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3181182A>C" "" "VUS" "" "0000274494" "0" "30" "8" "2806866" "2806866" "subst" "0" "01943" "CSMD1_000024" "g.2806866C>G" "" "" "" "CSMD1(NM_033225.6):c.10357G>C (p.D3453H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2949344C>G" "" "likely benign" "" "0000274495" "0" "30" "8" "3855533" "3855533" "subst" "0" "01943" "CSMD1_000028" "g.3855533G>C" "" "" "" "CSMD1(NM_033225.6):c.710C>G (p.T237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3998011G>C" "" "likely benign" "" "0000274496" "0" "30" "8" "3611465" "3611465" "subst" "0.000280408" "01943" "CSMD1_000027" "g.3611465G>A" "" "" "" "CSMD1(NM_033225.6):c.918C>T (p.N306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3753943G>A" "" "likely benign" "" "0000534662" "0" "30" "8" "2944629" "2944629" "subst" "0.00060189" "01943" "CSMD1_000030" "g.2944629T>C" "" "" "" "CSMD1(NM_033225.6):c.7464A>G (p.P2488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3087107T>C" "" "likely benign" "" "0000534664" "0" "50" "8" "2954473" "2954473" "subst" "6.30032E-6" "01943" "CSMD1_000032" "g.2954473T>C" "" "" "" "CSMD1(NM_033225.6):c.7036A>G (p.T2346A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3096951T>C" "" "VUS" "" "0000611604" "0" "30" "8" "2910093" "2910093" "subst" "5.38623E-5" "01943" "CSMD1_000035" "g.2910093C>G" "" "" "" "CSMD1(NM_033225.6):c.7551G>C (p.V2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3052571C>G" "" "likely benign" "" "0000611608" "0" "30" "8" "3141757" "3141757" "subst" "2.4481E-5" "01943" "CSMD1_000036" "g.3141757C>T" "" "" "" "CSMD1(NM_033225.6):c.4062G>A (p.P1354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3284235C>T" "" "likely benign" "" "0000690251" "0" "30" "8" "3081281" "3081281" "subst" "4.06392E-5" "01943" "CSMD1_000038" "g.3081281G>A" "" "" "" "CSMD1(NM_033225.6):c.4454C>T (p.P1485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690273" "0" "50" "8" "4277552" "4277552" "subst" "2.06067E-5" "01943" "CSMD1_000039" "g.4277552C>G" "" "" "" "CSMD1(NM_033225.6):c.338G>C (p.S113T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735351" "0" "70" "8" "3265703" "3265703" "subst" "0" "00000" "CSMD1_000040" "g.3265703A>G" "" "{PMID:Jin 2017:28373534}" "" "" "" "De novo" "" "" "0" "" "" "g.3408181A>G" "" "likely pathogenic" "" "0000794138" "0" "70" "1" "156126310" "156126310" "subst" "0" "00000" "CSMD1_000001" "g.156126310A>G" "" "{PMID:Wan 2018:30245926}" "" "c.245A>G; p.Glu82Gly" "Ocular disease gene; heterozygous variant" "Unknown" "?" "" "0" "" "" "g.156156519A>G" "" "likely pathogenic" "" "0000794144" "0" "70" "1" "156146474" "156146474" "subst" "0" "00000" "CSMD1_000001" "g.156146474C>T" "" "{PMID:Wan 2018:30245926}" "" "c.1972C>T; p.Arg658Trp" "Ocular disease gene; heterozygous variant" "Unknown" "?" "rs756847201" "0" "" "" "g.156176683C>T" "" "likely pathogenic" "" "0000794146" "0" "70" "2" "234217907" "234217925" "del" "0" "00000" "CSMD1_000001" "g.234217907_234217925del" "" "{PMID:Wan 2018:30245926}" "" "c.72_75+15delATC GGTGAGTGGT GCACAA; Splicing" "Ocular disease gene; heterozygous variant" "Unknown" "?" "rs771810575" "0" "" "" "g.233309261_233309279del" "" "likely pathogenic" "" "0000803621" "0" "50" "8" "3019799" "3019799" "subst" "4.46162E-6" "01943" "CSMD1_000041" "g.3019799G>C" "" "" "" "CSMD1(NM_033225.6):c.5726C>G (p.T1909S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861194" "0" "30" "8" "2820046" "2820046" "subst" "4.87987E-5" "01943" "CSMD1_000042" "g.2820046G>A" "" "" "" "CSMD1(NM_033225.6):c.9570C>T (p.S3190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861199" "0" "30" "8" "3141844" "3141844" "subst" "0.000175083" "01943" "CSMD1_000043" "g.3141844C>T" "" "" "" "CSMD1(NM_033225.6):c.3975G>A (p.T1325=, p.(Thr1325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861200" "0" "30" "8" "3611528" "3611528" "subst" "7.71962E-5" "01943" "CSMD1_000044" "g.3611528A>G" "" "" "" "CSMD1(NM_033225.6):c.855T>C (p.S285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978184" "0" "50" "8" "3141844" "3141844" "subst" "0.000175083" "01804" "CSMD1_000043" "g.3141844C>T" "" "" "" "CSMD1(NM_033225.6):c.3975G>A (p.T1325=, p.(Thr1325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978185" "0" "50" "8" "3200818" "3200818" "subst" "4.0662E-6" "01804" "CSMD1_000045" "g.3200818G>T" "" "" "" "CSMD1(NM_033225.6):c.3629C>A (p.(Thr1210Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997135" "0" "50" "8" "2836170" "2836170" "subst" "0" "01804" "CSMD1_000046" "g.2836170T>C" "" "" "" "CSMD1(NM_033225.5):c.8530A>G (p.(Asn2844Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997136" "0" "50" "8" "2857593" "2857593" "subst" "0" "01804" "CSMD1_000047" "g.2857593C>A" "" "" "" "CSMD1(NM_033225.5):c.8090G>T (p.(Ser2697Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997140" "0" "50" "8" "3008997" "3008997" "subst" "9.77621E-5" "01804" "CSMD1_000048" "g.3008997T>A" "" "" "" "CSMD1(NM_033225.5):c.5953A>T (p.(Ile1985Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997147" "0" "50" "8" "3263579" "3263579" "subst" "0" "01804" "CSMD1_000049" "g.3263579C>T" "" "" "" "CSMD1(NM_033225.5):c.2236G>A (p.(Val746Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997148" "0" "30" "8" "3611536" "3611536" "subst" "0.000146261" "01804" "CSMD1_000050" "g.3611536C>A" "" "" "" "CSMD1(NM_033225.5):c.847G>T (p.(Val283Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025517" "0" "50" "8" "3443729" "3443729" "subst" "1.63606E-5" "02325" "CSMD1_000051" "g.3443729G>C" "" "" "" "CSMD1(NM_033225.6):c.1151C>G (p.S384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036935" "0" "50" "8" "3009016" "3009016" "subst" "0" "01804" "CSMD1_000052" "g.3009016C>A" "" "" "" "CSMD1(NM_033225.6):c.5934G>T (p.(Leu1978=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052933" "0" "50" "8" "3245069" "3245069" "subst" "0" "01804" "CSMD1_000053" "g.3245069G>C" "" "" "" "CSMD1(NM_033225.6):c.2729C>G (p.(Pro910Arg))" "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 CSMD1 ## Count = 47 "{{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}}" "0000004575" "00000700" "50" "416" "-52451" "416" "-52451" "c.416-52451C>A" "r.(=)" "p.(=)" "" "0000004576" "00000700" "50" "303" "-90638" "303" "-90638" "c.303-90638G>T" "r.(=)" "p.(=)" "" "0000004577" "00000700" "50" "303" "-90669" "303" "-90669" "c.303-90669A>G" "r.(=)" "p.(=)" "" "0000172857" "00000700" "90" "17" "0" "17" "0" "c.17G>T" "r.(?)" "p.(Arg6Ile)" "1" "0000172858" "00000700" "90" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Glu)" "4" "0000172859" "00000700" "90" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Thr550Ile)" "13" "0000172860" "00000700" "90" "1827" "0" "1827" "0" "c.1827C>A" "r.(?)" "p.(Asn609Lys)" "14" "0000172861" "00000700" "50" "1873" "0" "1873" "0" "c.1873A>C" "r.(?)" "p.(Ile625Leu)" "14" "0000172862" "00000700" "90" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Ala639Thr)" "14" "0000172863" "00000700" "90" "3287" "0" "3287" "0" "c.3287C>G" "r.(?)" "p.(Pro1096Arg)" "21" "0000172864" "00000700" "90" "3746" "0" "3746" "0" "c.3746C>A" "r.(?)" "p.(Ala1249Asp)" "24" "0000172865" "00000700" "10" "3969" "0" "3969" "0" "c.3969C>T" "r.(?)" "p.(Phe1323=)" "26" "0000172866" "00000700" "50" "4084" "0" "4084" "0" "c.4084A>G" "r.(?)" "p.(Asn1362Asp)" "26" "0000172867" "00000700" "90" "5513" "0" "5513" "0" "c.5513C>T" "r.(?)" "p.(Ser1838Leu)" "35" "0000172868" "00000700" "90" "6506" "0" "6506" "0" "c.6506T>C" "r.(?)" "p.(Leu2169Pro)" "43" "0000172869" "00000700" "90" "7424" "0" "7424" "0" "c.7424G>A" "r.(?)" "p.(Arg2475Gln)" "49" "0000172870" "00000700" "50" "9030" "0" "9030" "0" "c.9030G>T" "r.(?)" "p.(Lys3010Asn)" "58" "0000172871" "00000700" "90" "9233" "0" "9233" "0" "c.9233G>A" "r.(?)" "p.(Arg3078His)" "59" "0000172872" "00000700" "90" "9851" "0" "9851" "0" "c.9851C>T" "r.(?)" "p.(Ala3284Val)" "64" "0000256482" "00000700" "50" "5653" "0" "5653" "0" "c.5653T>G" "r.(?)" "p.(Ser1885Ala)" "" "0000274494" "00000700" "30" "10357" "0" "10357" "0" "c.10357G>C" "r.(?)" "p.(Asp3453His)" "" "0000274495" "00000700" "30" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Thr237Ser)" "" "0000274496" "00000700" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Asn306=)" "" "0000534662" "00000700" "30" "7464" "0" "7464" "0" "c.7464A>G" "r.(?)" "p.(Pro2488=)" "" "0000534664" "00000700" "50" "7036" "0" "7036" "0" "c.7036A>G" "r.(?)" "p.(Thr2346Ala)" "" "0000611604" "00000700" "30" "7551" "0" "7551" "0" "c.7551G>C" "r.(?)" "p.(Val2517=)" "" "0000611608" "00000700" "30" "4062" "0" "4062" "0" "c.4062G>A" "r.(?)" "p.(Pro1354=)" "" "0000690251" "00000700" "30" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Pro1485Leu)" "" "0000690273" "00000700" "50" "338" "0" "338" "0" "c.338G>C" "r.(?)" "p.(Ser113Thr)" "" "0000735351" "00000700" "70" "1789" "0" "1789" "0" "c.1789T>C" "r.(?)" "p.(Ser597Pro)" "" "0000794138" "00000700" "70" "3826" "0" "3826" "0" "c.3826G>A" "r.(?)" "p.(Glu1276Lys)" "" "0000794144" "00000700" "70" "3826" "0" "3826" "0" "c.3826G>A" "r.(?)" "p.(Glu1276Lys)" "" "0000794146" "00000700" "70" "6408" "0" "6408" "0" "c.6408C>G" "r.(?)" "p.(Asn2136Lys)" "" "0000803621" "00000700" "50" "5726" "0" "5726" "0" "c.5726C>G" "r.(?)" "p.(Thr1909Ser)" "" "0000861194" "00000700" "30" "9570" "0" "9570" "0" "c.9570C>T" "r.(?)" "p.(Ser3190=)" "" "0000861199" "00000700" "30" "3975" "0" "3975" "0" "c.3975G>A" "r.(?)" "p.(Thr1325=)" "" "0000861200" "00000700" "30" "855" "0" "855" "0" "c.855T>C" "r.(?)" "p.(Ser285=)" "" "0000978184" "00000700" "50" "3975" "0" "3975" "0" "c.3975G>A" "r.(?)" "p.(Thr1325=)" "" "0000978185" "00000700" "50" "3629" "0" "3629" "0" "c.3629C>A" "r.(?)" "p.(Thr1210Asn)" "" "0000997135" "00000700" "50" "8530" "0" "8530" "0" "c.8530A>G" "r.(?)" "p.(Asn2844Asp)" "" "0000997136" "00000700" "50" "8090" "0" "8090" "0" "c.8090G>T" "r.(?)" "p.(Ser2697Ile)" "" "0000997140" "00000700" "50" "5953" "0" "5953" "0" "c.5953A>T" "r.(?)" "p.(Ile1985Phe)" "" "0000997147" "00000700" "50" "2236" "0" "2236" "0" "c.2236G>A" "r.(?)" "p.(Val746Ile)" "" "0000997148" "00000700" "30" "847" "0" "847" "0" "c.847G>T" "r.(?)" "p.(Val283Phe)" "" "0001025517" "00000700" "50" "1151" "0" "1151" "0" "c.1151C>G" "r.(?)" "p.(Ser384Cys)" "" "0001036935" "00000700" "50" "5934" "0" "5934" "0" "c.5934G>T" "r.(?)" "p.(=)" "" "0001052933" "00000700" "50" "2729" "0" "2729" "0" "c.2729C>G" "r.(?)" "p.(Pro910Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004575" "0000000209" "0000004576" "0000000209" "0000004577" "0000107111" "0000172857" "0000107111" "0000172858" "0000107111" "0000172860" "0000107111" "0000172862" "0000107111" "0000172863" "0000107111" "0000172865" "0000107111" "0000172866" "0000107111" "0000172870" "0000107111" "0000172871" "0000107111" "0000172872" "0000107112" "0000172859" "0000107113" "0000172861" "0000107113" "0000172869" "0000107114" "0000172864" "0000107115" "0000172867" "0000107116" "0000172868" "0000336200" "0000735351" "0000380913" "0000794146" "0000380914" "0000794144" "0000380915" "0000794138"