### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CINP) # 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}}" "CINP" "cyclin-dependent kinase 2 interacting protein" "14" "q32.33" "unknown" "NC_000014.8" "UD_132465623585" "" "https://www.LOVD.nl/CINP" "" "1" "23789" "51550" "613362" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-12 18:57:42" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005193" "CINP" "transcript variant 2" "002" "NM_032630.2" "" "NP_116019.1" "" "" "" "-65" "914" "639" "102829253" "102814619" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00150197" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB6511" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00150197" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{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}}" "0000122599" "00198" "00150197" "00006" "Unknown" "" "intellectual diability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151052" "00150197" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000151052" "CINP" ## 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 = 78 "{{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}}" "0000244218" "3" "90" "14" "102814896" "102814896" "subst" "0" "00006" "CINP_000001" "g.102814896A>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_032630: c.T637G; p.X213G" "" "Germline" "" "" "0" "" "" "g.102348559A>C" "" "pathogenic" "" "0000255056" "0" "30" "14" "102881114" "102881114" "subst" "0.000113722" "01943" "TECPR2_000001" "g.102881114A>G" "" "" "" "TECPR2(NM_014844.4):c.622A>G (p.T208A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102414777A>G" "" "likely benign" "" "0000316427" "0" "30" "14" "102906858" "102906858" "subst" "1.21821E-5" "01943" "TECPR2_000002" "g.102906858C>T" "" "" "" "TECPR2(NM_014844.4):c.2664C>T (p.Y888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102440521C>T" "" "likely benign" "" "0000316428" "0" "30" "14" "102906953" "102906953" "subst" "2.47893E-5" "01943" "TECPR2_000003" "g.102906953G>A" "" "" "" "TECPR2(NM_014844.4):c.2752+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102440616G>A" "" "likely benign" "" "0000316429" "0" "10" "14" "102912150" "102912150" "subst" "0.0173426" "01943" "TECPR2_000004" "g.102912150C>A" "" "" "" "TECPR2(NM_014844.4):c.2941C>A (p.Q981K), TECPR2(NM_014844.5):c.2941C>A (p.Q981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102445813C>A" "" "benign" "" "0000316430" "0" "50" "14" "102916966" "102916966" "subst" "0.000272119" "01943" "TECPR2_000005" "g.102916966C>A" "" "" "" "TECPR2(NM_014844.4):c.3386C>A (p.S1129Y), TECPR2(NM_014844.5):c.3386C>A (p.(Ser1129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102450629C>A" "" "VUS" "" "0000316431" "0" "50" "14" "102964011" "102964011" "subst" "0" "01943" "TECPR2_000006" "g.102964011G>A" "" "" "" "TECPR2(NM_014844.4):c.4036G>A (p.G1346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102497674G>A" "" "VUS" "" "0000316432" "0" "30" "14" "102964064" "102964064" "subst" "0.000987608" "01943" "TECPR2_000007" "g.102964064C>A" "" "" "" "TECPR2(NM_014844.4):c.4081+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102497727C>A" "" "likely benign" "" "0000316433" "0" "30" "14" "102964447" "102964447" "subst" "0.00153073" "01943" "TECPR2_000008" "g.102964447G>A" "" "" "" "TECPR2(NM_014844.4):c.4089G>A (p.A1363=), TECPR2(NM_014844.5):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102498110G>A" "" "likely benign" "" "0000344628" "0" "70" "14" "102881063" "102881063" "subst" "0" "02327" "TECPR2_000009" "g.102881063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102414726C>T" "" "likely pathogenic" "" "0000551238" "0" "10" "14" "102843039" "102843039" "subst" "0.0386377" "02330" "TECPR2_000019" "g.102843039A>C" "" "" "" "TECPR2(NM_014844.5):c.-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376702A>C" "" "benign" "" "0000551239" "0" "10" "14" "102843057" "102843057" "subst" "0.0346253" "02330" "TECPR2_000020" "g.102843057C>T" "" "" "" "TECPR2(NM_014844.5):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376720C>T" "" "benign" "" "0000551240" "0" "50" "14" "102843129" "102843129" "subst" "0" "01943" "TECPR2_000021" "g.102843129C>T" "" "" "" "TECPR2(NM_014844.4):c.71C>T (p.P24L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376792C>T" "" "VUS" "" "0000551241" "0" "30" "14" "102843158" "102843158" "subst" "8.12189E-6" "01943" "TECPR2_000022" "g.102843158A>G" "" "" "" "TECPR2(NM_014844.3):c.100A>G (p.(Ile34Val)), TECPR2(NM_014844.4):c.100A>G (p.I34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376821A>G" "" "likely benign" "" "0000551242" "0" "50" "14" "102843231" "102843231" "subst" "4.06227E-6" "01943" "TECPR2_000023" "g.102843231A>G" "" "" "" "TECPR2(NM_014844.4):c.173A>G (p.Y58C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102376894A>G" "" "VUS" "" "0000551243" "0" "30" "14" "102873803" "102873803" "subst" "0" "01804" "TECPR2_000024" "g.102873803G>T" "" "" "" "TECPR2(NM_001172631.1):c.348G>T (p.(Gln116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102407466G>T" "" "likely benign" "" "0000551244" "0" "50" "14" "102874889" "102874889" "subst" "2.84986E-5" "02330" "TECPR2_000025" "g.102874889A>G" "" "" "" "TECPR2(NM_014844.5):c.413A>G (p.N138S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102408552A>G" "" "VUS" "" "0000551245" "0" "30" "14" "102881098" "102881098" "subst" "0.000901574" "02330" "TECPR2_000026" "g.102881098T>C" "" "" "" "TECPR2(NM_014844.5):c.606T>C (p.S202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102414761T>C" "" "likely benign" "" "0000551246" "0" "10" "14" "102891646" "102891646" "subst" "0.355376" "02330" "TECPR2_000027" "g.102891646A>G" "" "" "" "TECPR2(NM_014844.5):c.951+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102425309A>G" "" "benign" "" "0000551247" "0" "30" "14" "102894582" "102894582" "subst" "0.00332726" "01943" "TECPR2_000028" "g.102894582G>A" "" "" "" "TECPR2(NM_014844.4):c.952-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428245G>A" "" "likely benign" "" "0000551248" "0" "10" "14" "102894593" "102894593" "subst" "0.893805" "02330" "TECPR2_000029" "g.102894593G>A" "" "" "" "TECPR2(NM_014844.5):c.958G>A (p.V320I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428256G>A" "" "benign" "" "0000551249" "0" "30" "14" "102894622" "102894622" "subst" "0" "01943" "TECPR2_000030" "g.102894622T>C" "" "" "" "TECPR2(NM_014844.4):c.987T>C (p.I329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102428285T>C" "" "likely benign" "" "0000551250" "0" "10" "14" "102898204" "102898204" "subst" "0.0134631" "02330" "TECPR2_000031" "g.102898204G>A" "" "" "" "TECPR2(NM_014844.5):c.1156G>A (p.A386T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102431867G>A" "" "benign" "" "0000551251" "0" "30" "14" "102898246" "102898246" "subst" "0" "01804" "TECPR2_000032" "g.102898246A>G" "" "" "" "TECPR2(NM_001172631.1):c.1198A>G (p.(Ser400Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102431909A>G" "" "likely benign" "" "0000551252" "0" "10" "14" "102898363" "102898363" "subst" "0.0390964" "02330" "TECPR2_000033" "g.102898363C>T" "" "" "" "TECPR2(NM_014844.5):c.1315C>T (p.P439S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102432026C>T" "" "benign" "" "0000551253" "0" "10" "14" "102900768" "102900768" "subst" "0.038376" "02330" "TECPR2_000034" "g.102900768A>G" "" "" "" "TECPR2(NM_014844.5):c.1614A>G (p.P538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434431A>G" "" "benign" "" "0000551254" "0" "30" "14" "102900798" "102900798" "subst" "0.000961142" "01943" "TECPR2_000035" "g.102900798T>G" "" "" "" "TECPR2(NM_001172631.1):c.1644T>G (p.(Asn548Lys)), TECPR2(NM_014844.4):c.1644T>G (p.N548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434461T>G" "" "likely benign" "" "0000551255" "0" "30" "14" "102900798" "102900798" "subst" "0.000961142" "01804" "TECPR2_000035" "g.102900798T>G" "" "" "" "TECPR2(NM_001172631.1):c.1644T>G (p.(Asn548Lys)), TECPR2(NM_014844.4):c.1644T>G (p.N548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434461T>G" "" "likely benign" "" "0000551256" "0" "50" "14" "102900938" "102900938" "subst" "0.000138278" "02330" "TECPR2_000036" "g.102900938C>T" "" "" "" "TECPR2(NM_014844.5):c.1784C>T (p.T595M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434601C>T" "" "VUS" "" "0000551257" "0" "10" "14" "102900956" "102900956" "subst" "0.0164357" "02330" "TECPR2_000037" "g.102900956C>T" "" "" "" "TECPR2(NM_014844.5):c.1802C>T (p.P601L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434619C>T" "" "benign" "" "0000551259" "0" "10" "14" "102901023" "102901023" "subst" "0.0777261" "02330" "TECPR2_000038" "g.102901023G>A" "" "" "" "TECPR2(NM_014844.5):c.1869G>A (p.G623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434686G>A" "" "benign" "" "0000551260" "0" "10" "14" "102901201" "102901201" "subst" "0.283069" "02330" "TECPR2_000039" "g.102901201A>G" "" "" "" "TECPR2(NM_014844.5):c.2047A>G (p.I683V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434864A>G" "" "benign" "" "0000551261" "0" "10" "14" "102901204" "102901204" "subst" "0.0437892" "02330" "TECPR2_000018" "g.102901204C>G" "" "" "" "TECPR2(NM_014844.5):c.2050C>G (p.L684V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434867C>G" "" "benign" "" "0000551262" "0" "30" "14" "102901330" "102901330" "subst" "0" "01943" "TECPR2_000040" "g.102901330A>G" "" "" "" "TECPR2(NM_014844.4):c.2176A>G (p.T726A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102434993A>G" "" "likely benign" "" "0000551263" "0" "30" "14" "102901461" "102901461" "subst" "5.70823E-5" "01943" "TECPR2_000041" "g.102901461G>A" "" "" "" "TECPR2(NM_014844.4):c.2307G>A (p.T769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102435124G>A" "" "likely benign" "" "0000551264" "0" "50" "14" "102904413" "102904413" "subst" "0.00059725" "01943" "TECPR2_000042" "g.102904413G>A" "" "" "" "TECPR2(NM_014844.4):c.2449G>A (p.V817M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102438076G>A" "" "VUS" "" "0000551265" "0" "10" "14" "102904572" "102904584" "del" "0" "02330" "TECPR2_000043" "g.102904572_102904584del" "" "" "" "TECPR2(NM_014844.5):c.2578+30_2578+42delCCTGCTCCCGCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102438235_102438247del" "" "benign" "" "0000551266" "0" "50" "14" "102906928" "102906928" "subst" "0" "01943" "TECPR2_000044" "g.102906928G>T" "" "" "" "TECPR2(NM_014844.4):c.2734G>T (p.D912Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102440591G>T" "" "VUS" "" "0000551267" "0" "10" "14" "102909991" "102909991" "subst" "0.058298" "02330" "TECPR2_000045" "g.102909991C>T" "" "" "" "TECPR2(NM_014844.5):c.2760C>T (p.S920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102443654C>T" "" "benign" "" "0000551268" "0" "30" "14" "102910060" "102910060" "subst" "4.8813E-5" "02330" "TECPR2_000046" "g.102910060G>A" "" "" "" "TECPR2(NM_014844.5):c.2829G>A (p.R943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102443723G>A" "" "likely benign" "" "0000551270" "0" "30" "14" "102912148" "102912148" "subst" "0.00360952" "01943" "TECPR2_000048" "g.102912148G>C" "" "" "" "TECPR2(NM_014844.4):c.2939G>C (p.R980T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445811G>C" "" "likely benign" "" "0000551271" "0" "10" "14" "102912150" "102912150" "subst" "0.0173426" "02330" "TECPR2_000004" "g.102912150C>A" "" "" "" "TECPR2(NM_014844.4):c.2941C>A (p.Q981K), TECPR2(NM_014844.5):c.2941C>A (p.Q981K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445813C>A" "" "benign" "" "0000551272" "0" "30" "14" "102912269" "102912269" "subst" "5.68972E-5" "02330" "TECPR2_000049" "g.102912269C>T" "" "" "" "TECPR2(NM_014844.4):c.3060C>T (p.D1020=), TECPR2(NM_014844.5):c.3060C>T (p.D1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102445932C>T" "" "likely benign" "" "0000551273" "0" "50" "14" "102916140" "102916140" "subst" "0" "01943" "TECPR2_000050" "g.102916140A>C" "" "" "" "TECPR2(NM_014844.4):c.3250A>C (p.N1084H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449803A>C" "" "VUS" "" "0000551274" "0" "30" "14" "102916165" "102916165" "subst" "0.00400845" "02330" "TECPR2_000051" "g.102916165C>T" "" "" "" "TECPR2(NM_001172631.1):c.3275C>T (p.(Ser1092Leu)), TECPR2(NM_014844.5):c.3275C>T (p.S1092L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449828C>T" "" "likely benign" "" "0000551275" "0" "30" "14" "102916165" "102916165" "subst" "0.00400845" "01804" "TECPR2_000051" "g.102916165C>T" "" "" "" "TECPR2(NM_001172631.1):c.3275C>T (p.(Ser1092Leu)), TECPR2(NM_014844.5):c.3275C>T (p.S1092L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102449828C>T" "" "likely benign" "" "0000551276" "0" "50" "14" "102918744" "102918744" "subst" "0" "01943" "TECPR2_000052" "g.102918744G>A" "" "" "" "TECPR2(NM_014844.4):c.3420G>A (p.W1140*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452407G>A" "" "VUS" "" "0000551277" "0" "30" "14" "102918775" "102918775" "subst" "2.0558E-5" "01943" "TECPR2_000053" "g.102918775G>A" "" "" "" "TECPR2(NM_014844.4):c.3451G>A (p.V1151I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452438G>A" "" "likely benign" "" "0000551278" "0" "10" "14" "102918789" "102918789" "subst" "0.0015171" "01943" "TECPR2_000054" "g.102918789C>A" "" "" "" "TECPR2(NM_014844.4):c.3465C>A (p.S1155R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102452452C>A" "" "benign" "" "0000657335" "0" "50" "14" "102901414" "102901414" "subst" "1.22141E-5" "01943" "TECPR2_000055" "g.102901414G>A" "" "" "" "TECPR2(NM_014844.4):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102435077G>A" "" "VUS" "" "0000679876" "0" "50" "14" "102918934" "102918934" "subst" "0" "01943" "TECPR2_000056" "g.102918934C>T" "" "" "" "TECPR2(NM_014844.4):c.3610C>T (p.H1204Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724621" "0" "50" "14" "102891495" "102891495" "subst" "0.000134001" "01943" "CINP_000002" "g.102891495G>A" "" "" "" "TECPR2(NM_014844.3):c.818G>A (p.(Arg273His)), TECPR2(NM_014844.4):c.818G>A (p.R273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724622" "0" "50" "14" "102898460" "102898462" "dup" "0" "01943" "CINP_000003" "g.102898460_102898462dup" "" "" "" "TECPR2(NM_014844.4):c.1412_1414dupAGA (p.K471dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724623" "0" "50" "14" "102901551" "102901551" "subst" "5.07967E-5" "01943" "CINP_000004" "g.102901551A>G" "" "" "" "TECPR2(NM_014844.4):c.2394+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724624" "0" "50" "14" "102910131" "102910131" "subst" "6.2188E-5" "01943" "CINP_000005" "g.102910131C>T" "" "" "" "TECPR2(NM_014844.4):c.2900C>T (p.P967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806246" "0" "30" "14" "102900831" "102900831" "subst" "6.36886E-5" "01943" "CINP_000006" "g.102900831T>C" "" "" "" "TECPR2(NM_014844.4):c.1677T>C (p.S559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806247" "0" "50" "14" "102900970" "102900970" "subst" "0" "01943" "CINP_000007" "g.102900970G>C" "" "" "" "TECPR2(NM_014844.4):c.1816G>C (p.D606H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806248" "0" "30" "14" "102910102" "102910102" "subst" "1.63213E-5" "01943" "CINP_000008" "g.102910102G>A" "" "" "" "TECPR2(NM_014844.4):c.2871G>A (p.L957=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806249" "0" "30" "14" "102912269" "102912269" "subst" "5.68972E-5" "01943" "TECPR2_000049" "g.102912269C>T" "" "" "" "TECPR2(NM_014844.4):c.3060C>T (p.D1020=), TECPR2(NM_014844.5):c.3060C>T (p.D1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806250" "0" "30" "14" "102916136" "102916136" "subst" "4.46693E-5" "01943" "CINP_000009" "g.102916136G>C" "" "" "" "TECPR2(NM_014844.4):c.3246G>C (p.G1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806251" "0" "30" "14" "102918974" "102918974" "subst" "2.32307E-5" "01943" "CINP_000010" "g.102918974C>T" "" "" "" "TECPR2(NM_014844.4):c.3640+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853710" "0" "50" "14" "102904455" "102904455" "subst" "5.68902E-5" "01943" "CINP_000012" "g.102904455G>T" "" "" "" "TECPR2(NM_014844.4):c.2491G>T (p.G831C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863429" "0" "30" "14" "102901135" "102901135" "subst" "0.000641403" "01943" "CINP_000011" "g.102901135G>A" "" "" "" "TECPR2(NM_014844.4):c.1981G>A (p.E661K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863430" "0" "30" "14" "102964007" "102964007" "subst" "1.71945E-5" "02326" "CINP_000013" "g.102964007C>T" "" "" "" "TECPR2(NM_014844.5):c.4032C>T (p.P1344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914132" "0" "30" "14" "102898308" "102898308" "subst" "0.000616117" "02326" "CINP_000014" "g.102898308C>T" "" "" "" "TECPR2(NM_014844.5):c.1260C>T (p.S420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930261" "0" "30" "14" "102964447" "102964447" "subst" "0.00153073" "02326" "TECPR2_000008" "g.102964447G>A" "" "" "" "TECPR2(NM_014844.4):c.4089G>A (p.A1363=), TECPR2(NM_014844.5):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980746" "0" "30" "14" "102894581" "102894582" "del" "0" "02325" "CINP_000015" "g.102894581_102894582del" "" "" "" "TECPR2(NM_014844.5):c.952-6_952-5delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980747" "0" "50" "14" "102906887" "102906887" "subst" "0" "01804" "CINP_000016" "g.102906887C>G" "" "" "" "TECPR2(NM_014844.5):c.2693C>G (p.(Ala898Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980748" "0" "50" "14" "102910115" "102910115" "subst" "2.46297E-5" "01804" "CINP_000017" "g.102910115G>A" "" "" "" "TECPR2(NM_014844.5):c.2884G>A (p.(Val962Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980749" "0" "50" "14" "102916966" "102916966" "subst" "0.000272119" "01804" "TECPR2_000005" "g.102916966C>A" "" "" "" "TECPR2(NM_014844.4):c.3386C>A (p.S1129Y), TECPR2(NM_014844.5):c.3386C>A (p.(Ser1129Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000681" "0" "50" "14" "102843158" "102843158" "subst" "8.12189E-6" "01804" "TECPR2_000022" "g.102843158A>G" "" "" "" "TECPR2(NM_014844.3):c.100A>G (p.(Ile34Val)), TECPR2(NM_014844.4):c.100A>G (p.I34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000682" "0" "50" "14" "102891495" "102891495" "subst" "0.000134001" "01804" "CINP_000002" "g.102891495G>A" "" "" "" "TECPR2(NM_014844.3):c.818G>A (p.(Arg273His)), TECPR2(NM_014844.4):c.818G>A (p.R273H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000683" "0" "30" "14" "102900806" "102900806" "subst" "6.1055E-5" "01804" "CINP_000018" "g.102900806A>G" "" "" "" "TECPR2(NM_014844.3):c.1652A>G (p.(Glu551Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000684" "0" "10" "14" "102964008" "102964008" "subst" "0.000885488" "02326" "CINP_000019" "g.102964008G>A" "" "" "" "TECPR2(NM_014844.5):c.4033G>A (p.A1345T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015108" "0" "30" "14" "102912302" "102912302" "subst" "0.000892636" "02326" "CINP_000020" "g.102912302C>T" "" "" "" "TECPR2(NM_014844.5):c.3075+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015109" "0" "50" "14" "102916087" "102916087" "subst" "1.21824E-5" "02325" "CINP_000021" "g.102916087G>A" "" "" "" "TECPR2(NM_014844.5):c.3197G>A (p.R1066H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015110" "0" "30" "14" "102963298" "102963298" "subst" "0.000849036" "02326" "CINP_000022" "g.102963298G>C" "" "" "" "TECPR2(NM_014844.5):c.3790-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046459" "0" "50" "14" "102910058" "102910058" "subst" "5.29019E-5" "02325" "CINP_000023" "g.102910058C>T" "" "" "" "TECPR2(NM_014844.5):c.2827C>T (p.R943W)" "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 CINP ## Count = 78 "{{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}}" "0000244218" "00005193" "90" "637" "0" "637" "0" "c.637T>G" "r.(?)" "p.(*213Glyext*21)" "" "0000255056" "00005193" "30" "-51926" "0" "-51926" "0" "c.-51926T>C" "r.(?)" "p.(=)" "" "0000316427" "00005193" "30" "-77670" "0" "-77670" "0" "c.-77670G>A" "r.(?)" "p.(=)" "" "0000316428" "00005193" "30" "-77765" "0" "-77765" "0" "c.-77765C>T" "r.(?)" "p.(=)" "" "0000316429" "00005193" "10" "-82962" "0" "-82962" "0" "c.-82962G>T" "r.(?)" "p.(=)" "" "0000316430" "00005193" "50" "-87778" "0" "-87778" "0" "c.-87778G>T" "r.(?)" "p.(=)" "" "0000316431" "00005193" "50" "-134823" "0" "-134823" "0" "c.-134823C>T" "r.(?)" "p.(=)" "" "0000316432" "00005193" "30" "-134876" "0" "-134876" "0" "c.-134876G>T" "r.(?)" "p.(=)" "" "0000316433" "00005193" "30" "-135259" "0" "-135259" "0" "c.-135259C>T" "r.(?)" "p.(=)" "" "0000344628" "00005193" "70" "-51875" "0" "-51875" "0" "c.-51875G>A" "r.(?)" "p.(=)" "" "0000551238" "00005193" "10" "-13851" "0" "-13851" "0" "c.-13851T>G" "r.(?)" "p.(=)" "" "0000551239" "00005193" "10" "-13869" "0" "-13869" "0" "c.-13869G>A" "r.(?)" "p.(=)" "" "0000551240" "00005193" "50" "-13941" "0" "-13941" "0" "c.-13941G>A" "r.(?)" "p.(=)" "" "0000551241" "00005193" "30" "-13970" "0" "-13970" "0" "c.-13970T>C" "r.(?)" "p.(=)" "" "0000551242" "00005193" "50" "-14043" "0" "-14043" "0" "c.-14043T>C" "r.(?)" "p.(=)" "" "0000551243" "00005193" "30" "-44615" "0" "-44615" "0" "c.-44615C>A" "r.(?)" "p.(=)" "" "0000551244" "00005193" "50" "-45701" "0" "-45701" "0" "c.-45701T>C" "r.(?)" "p.(=)" "" "0000551245" "00005193" "30" "-51910" "0" "-51910" "0" "c.-51910A>G" "r.(?)" "p.(=)" "" "0000551246" "00005193" "10" "-62458" "0" "-62458" "0" "c.-62458T>C" "r.(?)" "p.(=)" "" "0000551247" "00005193" "30" "-65394" "0" "-65394" "0" "c.-65394C>T" "r.(?)" "p.(=)" "" "0000551248" "00005193" "10" "-65405" "0" "-65405" "0" "c.-65405C>T" "r.(?)" "p.(=)" "" "0000551249" "00005193" "30" "-65434" "0" "-65434" "0" "c.-65434A>G" "r.(?)" "p.(=)" "" "0000551250" "00005193" "10" "-69016" "0" "-69016" "0" "c.-69016C>T" "r.(?)" "p.(=)" "" "0000551251" "00005193" "30" "-69058" "0" "-69058" "0" "c.-69058T>C" "r.(?)" "p.(=)" "" "0000551252" "00005193" "10" "-69175" "0" "-69175" "0" "c.-69175G>A" "r.(?)" "p.(=)" "" "0000551253" "00005193" "10" "-71580" "0" "-71580" "0" "c.-71580T>C" "r.(?)" "p.(=)" "" "0000551254" "00005193" "30" "-71610" "0" "-71610" "0" "c.-71610A>C" "r.(?)" "p.(=)" "" "0000551255" "00005193" "30" "-71610" "0" "-71610" "0" "c.-71610A>C" "r.(?)" "p.(=)" "" "0000551256" "00005193" "50" "-71750" "0" "-71750" "0" "c.-71750G>A" "r.(?)" "p.(=)" "" "0000551257" "00005193" "10" "-71768" "0" "-71768" "0" "c.-71768G>A" "r.(?)" "p.(=)" "" "0000551259" "00005193" "10" "-71835" "0" "-71835" "0" "c.-71835C>T" "r.(?)" "p.(=)" "" "0000551260" "00005193" "10" "-72013" "0" "-72013" "0" "c.-72013T>C" "r.(?)" "p.(=)" "" "0000551261" "00005193" "10" "-72016" "0" "-72016" "0" "c.-72016G>C" "r.(?)" "p.(=)" "" "0000551262" "00005193" "30" "-72142" "0" "-72142" "0" "c.-72142T>C" "r.(?)" "p.(=)" "" "0000551263" "00005193" "30" "-72273" "0" "-72273" "0" "c.-72273C>T" "r.(?)" "p.(=)" "" "0000551264" "00005193" "50" "-75225" "0" "-75225" "0" "c.-75225C>T" "r.(?)" "p.(=)" "" "0000551265" "00005193" "10" "-75376" "0" "-75364" "0" "c.-75376_-75364del" "r.(?)" "p.(=)" "" "0000551266" "00005193" "50" "-77740" "0" "-77740" "0" "c.-77740C>A" "r.(?)" "p.(=)" "" "0000551267" "00005193" "10" "-80803" "0" "-80803" "0" "c.-80803G>A" "r.(?)" "p.(=)" "" "0000551268" "00005193" "30" "-80872" "0" "-80872" "0" "c.-80872C>T" "r.(?)" "p.(=)" "" "0000551270" "00005193" "30" "-82960" "0" "-82960" "0" "c.-82960C>G" "r.(?)" "p.(=)" "" "0000551271" "00005193" "10" "-82962" "0" "-82962" "0" "c.-82962G>T" "r.(?)" "p.(=)" "" "0000551272" "00005193" "30" "-83081" "0" "-83081" "0" "c.-83081G>A" "r.(?)" "p.(=)" "" "0000551273" "00005193" "50" "-86952" "0" "-86952" "0" "c.-86952T>G" "r.(?)" "p.(=)" "" "0000551274" "00005193" "30" "-86977" "0" "-86977" "0" "c.-86977G>A" "r.(?)" "p.(=)" "" "0000551275" "00005193" "30" "-86977" "0" "-86977" "0" "c.-86977G>A" "r.(?)" "p.(=)" "" "0000551276" "00005193" "50" "-89556" "0" "-89556" "0" "c.-89556C>T" "r.(?)" "p.(=)" "" "0000551277" "00005193" "30" "-89587" "0" "-89587" "0" "c.-89587C>T" "r.(?)" "p.(=)" "" "0000551278" "00005193" "10" "-89601" "0" "-89601" "0" "c.-89601G>T" "r.(?)" "p.(=)" "" "0000657335" "00005193" "50" "-72226" "0" "-72226" "0" "c.-72226C>T" "r.(?)" "p.(=)" "" "0000679876" "00005193" "50" "-89746" "0" "-89746" "0" "c.-89746G>A" "r.(?)" "p.(=)" "" "0000724621" "00005193" "50" "-62307" "0" "-62307" "0" "c.-62307C>T" "r.(?)" "p.(=)" "" "0000724622" "00005193" "50" "-69257" "0" "-69255" "0" "c.-69257_-69255dup" "r.(?)" "p.(=)" "" "0000724623" "00005193" "50" "-72363" "0" "-72363" "0" "c.-72363T>C" "r.(?)" "p.(=)" "" "0000724624" "00005193" "50" "-80943" "0" "-80943" "0" "c.-80943G>A" "r.(?)" "p.(=)" "" "0000806246" "00005193" "30" "-71643" "0" "-71643" "0" "c.-71643A>G" "r.(?)" "p.(=)" "" "0000806247" "00005193" "50" "-71782" "0" "-71782" "0" "c.-71782C>G" "r.(?)" "p.(=)" "" "0000806248" "00005193" "30" "-80914" "0" "-80914" "0" "c.-80914C>T" "r.(?)" "p.(=)" "" "0000806249" "00005193" "30" "-83081" "0" "-83081" "0" "c.-83081G>A" "r.(?)" "p.(=)" "" "0000806250" "00005193" "30" "-86948" "0" "-86948" "0" "c.-86948C>G" "r.(?)" "p.(=)" "" "0000806251" "00005193" "30" "-89786" "0" "-89786" "0" "c.-89786G>A" "r.(?)" 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"p.(=)" "" "0001000683" "00005193" "30" "-71618" "0" "-71618" "0" "c.-71618T>C" "r.(?)" "p.(=)" "" "0001000684" "00005193" "10" "-134820" "0" "-134820" "0" "c.-134820C>T" "r.(?)" "p.(=)" "" "0001015108" "00005193" "30" "-83114" "0" "-83114" "0" "c.-83114G>A" "r.(?)" "p.(=)" "" "0001015109" "00005193" "50" "-86899" "0" "-86899" "0" "c.-86899C>T" "r.(?)" "p.(=)" "" "0001015110" "00005193" "30" "-134110" "0" "-134110" "0" "c.-134110C>G" "r.(?)" "p.(=)" "" "0001046459" "00005193" "50" "-80870" "0" "-80870" "0" "c.-80870G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000151052" "0000244218"