### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CATSPER2) # 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}}" "CATSPER2" "cation channel, sperm associated 2" "15" "q15.3" "unknown" "NC_000015.9" "UD_132119145891" "" "https://www.LOVD.nl/CATSPER2" "" "1" "18810" "117155" "607249" "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/CATSPER2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-13 16:40:26" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025909" "CATSPER2" "transcript variant 2" "002" "NM_172095.1" "" "NP_742093.1" "" "" "" "-215" "1720" "1593" "43941039" "43922772" "00006" "2024-02-13 16:46:51" "" "" ## 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}}" "00384626" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 4 patient 1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00384626" "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}}" "0000278416" "00198" "00384626" "00000" "Familial, X-linked" "" "Retinitis pigmentosa (XL) and diabetes insipidus (XL) and hearing loss (AR)" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" ## 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}}" "0000385854" "00384626" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000385854" "RPGR" ## 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 = 96 "{{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}}" "0000248768" "0" "10" "15" "43910440" "43910440" "subst" "0.347484" "02325" "STRC_000030" "g.43910440A>G" "" "" "" "STRC(NM_153700.2):c.179T>C (p.F60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43618242A>G" "" "benign" "" "0000249195" "0" "10" "15" "43892893" "43892893" "subst" "0.1519" "02325" "STRC_000023" "g.43892893A>G" "" "" "" "STRC(NM_153700.2):c.4845-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600695A>G" "" "benign" "" "0000255121" "0" "30" "15" "43892256" "43892256" "subst" "8.13378E-6" "01943" "STRC_000017" "g.43892256A>G" "" "" "" "STRC(NM_153700.2):c.5141T>C (p.V1714A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600058A>G" "" "likely benign" "" "0000311598" "0" "10" "15" "43897499" "43897499" "subst" "0.160024" "02325" "STRC_000027" "g.43897499T>C" "" "" "" "STRC(NM_153700.2):c.3893A>G (p.H1298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43605301T>C" "" "benign" "" "0000311599" "0" "10" "15" "43893072" "43893072" "subst" "0.192614" "02325" "STRC_000024" "g.43893072G>A" "" "" "" "STRC(NM_153700.2):c.4842C>T (p.F1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600874G>A" "" "benign" "" "0000311600" "0" "10" "15" "43892847" "43892847" "subst" "0.158475" "02325" "STRC_000022" "g.43892847G>C" "" "" "" "STRC(NM_153700.2):c.4878C>G (p.L1626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600649G>C" "" "benign" "" "0000315883" "0" "50" "15" "43895558" "43895558" "subst" "0" "01943" "STRC_000026" "g.43895558G>C" "" "" "" "STRC(NM_153700.2):c.4427C>G (p.S1476C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603360G>C" "" "VUS" "" "0000315884" "0" "30" "15" "43893708" "43893708" "subst" "0" "01943" "STRC_000025" "g.43893708C>T" "" "" "" "STRC(NM_153700.2):c.4587G>A (p.L1529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43601510C>T" "" "likely benign" "" "0000315885" "0" "50" "15" "43892822" "43892822" "subst" "0" "01943" "STRC_000021" "g.43892822C>A" "" "" "" "STRC(NM_153700.2):c.4903G>T (p.V1635F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600624C>A" "" "VUS" "" "0000315887" "0" "70" "15" "43892808" "43892808" "subst" "0.00117944" "01943" "STRC_000020" "g.43892808T>G" "" "" "" "STRC(NM_153700.2):c.4917A>C (p.L1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600610T>G" "" "likely pathogenic" "" "0000315888" "0" "70" "15" "43892807" "43892807" "subst" "0.00117529" "01943" "STRC_000018" "g.43892807G>A" "" "" "" "STRC(NM_153700.2):c.4918C>T (p.L1640F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600609G>A" "" "likely pathogenic" "" "0000315889" "0" "10" "15" "43910121" "43910121" "subst" "0.00564329" "01943" "STRC_000029" "g.43910121C>T" "" "" "" "STRC(NM_153700.2):c.498G>A (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43617923C>T" "" "benign" "" "0000338104" "0" "10" "15" "43892893" "43892893" "subst" "0.1519" "02327" "STRC_000023" "g.43892893A>G" "" "" "" "STRC(NM_153700.2):c.4845-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600695A>G" "" "benign" "" "0000338105" "0" "90" "15" "43904038" "43904038" "subst" "0" "02327" "STRC_000039" "g.43904038A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43611840A>C" "" "pathogenic" "" "0000340084" "0" "10" "15" "43892847" "43892847" "subst" "0.158475" "02327" "STRC_000022" "g.43892847G>C" "" "" "" "STRC(NM_153700.2):c.4878C>G (p.L1626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600649G>C" "" "benign" "" "0000340085" "0" "10" "15" "43900153" "43900153" "subst" "0.146996" "02327" "STRC_000037" "g.43900153C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43607955C>T" "" "benign" "" "0000340086" "0" "10" "15" "43903129" "43903129" "subst" "0" "02327" "STRC_000038" "g.43903129A>G" "" "" "" "STRC(NM_153700.2):c.3360T>C (p.C1120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43610931A>G" "" "benign" "" "0000340087" "0" "30" "15" "43907748" "43907748" "subst" "0" "02327" "STRC_000042" "g.43907748T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43615550T>C" "" "likely benign" "" "0000340863" "0" "30" "15" "43906620" "43906620" "subst" "0" "02327" "STRC_000041" "g.43906620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43614422G>A" "" "likely benign" "" "0000341895" "0" "70" "15" "43896606" "43896606" "subst" "0.000137581" "02327" "STRC_000001" "g.43896606G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604408G>C" "" "likely pathogenic" "" "0000341910" "0" "50" "15" "43896322" "43896322" "subst" "2.53177E-5" "02327" "STRC_000035" "g.43896322C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604124C>T" "" "VUS" "" "0000341944" "0" "90" "15" "43895583" "43895583" "subst" "9.3464E-5" "02327" "STRC_000034" "g.43895583G>A" "" "" "" "STRC(NM_153700.2):c.4402C>T (p.R1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603385G>A" "" "pathogenic" "" "0000341967" "0" "10" "15" "43893733" "43893733" "subst" "0.0464008" "02327" "STRC_000033" "g.43893733C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43601535C>T" "" "benign" "" "0000342076" "0" "90" "15" "43892209" "43892209" "subst" "2.09721E-5" "02327" "STRC_000031" "g.43892209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600011G>A" "" "pathogenic" "" "0000343476" "0" "50" "15" "43905038" "43905038" "subst" "9.65065E-5" "02327" "STRC_000040" "g.43905038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43612840G>A" "" "VUS" "" "0000344876" "0" "90" "15" "43908260" "43908260" "subst" "0" "02327" "STRC_000045" "g.43908260G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43616062G>A" "" "pathogenic" "" "0000346369" "0" "10" "15" "43897499" "43897499" "subst" "0.160024" "02327" "STRC_000027" "g.43897499T>C" "" "" "" "STRC(NM_153700.2):c.3893A>G (p.H1298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43605301T>C" "" "benign" "" "0000347195" "0" "70" "15" "43908295" "43908295" "subst" "0" "02327" "STRC_000046" "g.43908295A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43616097A>G" "" "likely pathogenic" "" "0000348078" "0" "10" "15" "43910440" "43910440" "subst" "0.347484" "02327" "STRC_000030" "g.43910440A>G" "" "" "" "STRC(NM_153700.2):c.179T>C (p.F60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43618242A>G" "" "benign" "" "0000349315" "0" "70" "15" "43892272" "43892272" "subst" "0" "02327" "STRC_000013" "g.43892272T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600074T>C" "" "likely pathogenic" "" "0000350133" "0" "50" "15" "43908133" "43908133" "subst" "0" "02327" "STRC_000044" "g.43908133T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43615935T>C" "" "VUS" "" "0000350299" "0" "30" "15" "43895586" "43895586" "subst" "0.000950903" "02327" "STRC_000006" "g.43895586C>T" "" "" "" "STRC(NM_153700.2):c.4399G>A (p.V1467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603388C>T" "" "likely benign" "" "0000350783" "0" "50" "15" "43896559" "43896559" "subst" "1.2095E-5" "02327" "STRC_000036" "g.43896559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604361C>T" "" "VUS" "" "0000554315" "0" "30" "15" "43892197" "43892197" "subst" "0.00095572" "01943" "STRC_000066" "g.43892197A>G" "" "" "" "STRC(NM_153700.2):c.5200T>C (p.W1734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43599999A>G" "" "likely benign" "" "0000554317" "0" "90" "15" "43892809" "43892810" "dup" "0" "01943" "STRC_000067" "g.43892809_43892810dup" "" "" "" "STRC(NM_153700.2):c.4915_4916dupCT (p.L1640Yfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600611_43600612dup" "" "pathogenic" "" "0000554318" "0" "50" "15" "43892842" "43892842" "subst" "0" "02327" "STRC_000068" "g.43892842C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600644C>T" "" "VUS" "" "0000554319" "0" "30" "15" "43892862" "43892862" "subst" "0.00269091" "01943" "STRC_000069" "g.43892862G>C" "" "" "" "STRC(NM_153700.2):c.4863C>G (p.L1621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600664G>C" "" "likely benign" "" "0000554320" "0" "10" "15" "43893072" "43893072" "subst" "0.192614" "02327" "STRC_000024" "g.43893072G>A" "" "" "" "STRC(NM_153700.2):c.4842C>T (p.F1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600874G>A" "" "benign" "" "0000554321" "0" "30" "15" "43893732" "43893732" "subst" "0.000446875" "01943" "STRC_000070" "g.43893732C>T" "" "" "" "STRC(NM_153700.2):c.4563G>A (p.R1521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43601534C>T" "" "likely benign" "" "0000554322" "0" "50" "15" "43895553" "43895553" "subst" "0.000105606" "01943" "STRC_000071" "g.43895553T>G" "" "" "" "STRC(NM_153700.2):c.4432A>C (p.T1478P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43603355T>G" "" "VUS" "" "0000554323" "0" "30" "15" "43896309" "43896309" "subst" "0" "01943" "STRC_000072" "g.43896309C>T" "" "" "" "STRC(NM_153700.2):c.4260G>A (p.K1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604111C>T" "" "likely benign" "" "0000554324" "0" "10" "15" "43896840" "43896840" "subst" "0.00105122" "01943" "STRC_000073" "g.43896840G>A" "" "" "" "STRC(NM_153700.2):c.4127+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604642G>A" "" "benign" "" "0000554325" "0" "70" "15" "43900061" "43900061" "subst" "9.90998E-5" "02327" "STRC_000074" "g.43900061G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43607863G>A" "" "likely pathogenic" "" "0000554326" "0" "90" "15" "43900358" "43900358" "subst" "8.52718E-6" "02327" "STRC_000075" "g.43900358G>A" "" "" "" "STRC(NM_153700.2):c.3601C>T (p.Q1201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43608160G>A" "" "pathogenic" "" "0000554327" "0" "30" "15" "43901491" "43901491" "subst" "0.000832442" "01943" "STRC_000076" "g.43901491A>C" "" "" "" "STRC(NM_153700.2):c.3540T>G (p.L1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43609293A>C" "" "likely benign" "" "0000554328" "0" "30" "15" "43903129" "43903129" "subst" "0" "01943" "STRC_000038" "g.43903129A>G" "" "" "" "STRC(NM_153700.2):c.3360T>C (p.C1120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43610931A>G" "" "likely benign" "" "0000554329" "0" "30" "15" "43903187" "43903187" "dup" "0" "01943" "STRC_000077" "g.43903187dup" "" "" "" "STRC(NM_153700.2):c.3307-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43610989dup" "" "likely benign" "" "0000554330" "0" "90" "15" "43903435" "43903435" "subst" "0" "02327" "STRC_000078" "g.43903435G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43611237G>A" "" "pathogenic" "" "0000554331" "0" "70" "15" "43904577" "43904577" "subst" "0" "02327" "STRC_000079" "g.43904577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43612379G>A" "" "likely pathogenic" "" "0000554332" "0" "50" "15" "43906154" "43906154" "subst" "0" "02327" "STRC_000080" "g.43906154G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43613956G>C" "" "VUS" "" "0000554333" "0" "70" "15" "43908399" "43908399" "subst" "0" "02327" "STRC_000081" "g.43908399G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616201G>C" "" "likely pathogenic" "" "0000554334" "0" "50" "15" "43908845" "43908845" "subst" "0" "02327" "STRC_000082" "g.43908845A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616647A>G" "" "VUS" "" "0000554335" "0" "30" "15" "43909941" "43909941" "subst" "0" "01943" "STRC_000083" "g.43909941T>A" "" "" "" "STRC(NM_153700.2):c.678A>T (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43617743T>A" "" "likely benign" "" "0000554336" "0" "30" "15" "43909948" "43909948" "subst" "0" "01943" "STRC_000084" "g.43909948G>A" "" "" "" "STRC(NM_153700.2):c.671C>T (p.T224I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43617750G>A" "" "likely benign" "" "0000554337" "0" "50" "15" "43910201" "43910201" "subst" "2.48045E-5" "01943" "STRC_000085" "g.43910201G>T" "" "" "" "STRC(NM_153700.2):c.418C>A (p.L140I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618003G>T" "" "VUS" "" "0000554338" "0" "30" "15" "43910210" "43910210" "subst" "0" "01943" "STRC_000086" "g.43910210G>C" "" "" "" "STRC(NM_153700.2):c.409C>G (p.L137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618012G>C" "" "likely benign" "" "0000554339" "0" "10" "15" "43910286" "43910286" "subst" "0" "01943" "STRC_000087" "g.43910286C>A" "" "" "" "STRC(NM_153700.2):c.333G>T (p.G111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618088C>A" "" "benign" "" "0000554340" "0" "30" "15" "43910520" "43910520" "subst" "0.00319127" "01943" "STRC_000088" "g.43910520G>A" "" "" "" "STRC(NM_153700.2):c.99C>T (p.D33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618322G>A" "" "likely benign" "" "0000615312" "0" "50" "15" "43892197" "43892197" "subst" "0.00095572" "02327" "STRC_000066" "g.43892197A>G" "" "" "" "STRC(NM_153700.2):c.5200T>C (p.W1734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43599999A>G" "" "VUS" "" "0000615313" "0" "90" "15" "43895561" "43895561" "subst" "0" "02327" "STRC_000089" "g.43895561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43603363C>T" "" "pathogenic" "" "0000615314" "0" "90" "15" "43906176" "43906176" "subst" "0" "02327" "STRC_000091" "g.43906176G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43613978G>A" "" "pathogenic" "" "0000615315" "0" "50" "15" "43908184" "43908184" "subst" "0" "02327" "STRC_000092" "g.43908184C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43615986C>G" "" "VUS" "" "0000615316" "0" "50" "15" "43908298" "43908298" "subst" "0" "02327" "STRC_000093" "g.43908298C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616100C>G" "" "VUS" "" "0000615317" "0" "50" "15" "43910299" "43910301" "dup" "0" "01943" "STRC_000094" "g.43910299_43910301dup" "" "" "" "STRC(NM_153700.2):c.319_321dupGAG (p.E107dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618101_43618103dup" "" "VUS" "" "0000623226" "0" "90" "15" "43900060" "43900060" "subst" "1.23976E-5" "01943" "STRC_000090" "g.43900060C>T" "" "" "" "STRC(NM_153700.2):c.3794+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43607862C>T" "" "pathogenic" "" "0000680176" "0" "30" "15" "43910266" "43910266" "subst" "2.77081E-5" "01943" "STRC_000095" "g.43910266G>C" "" "" "" "STRC(NM_153700.2):c.353C>G (p.A118G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691796" "0" "30" "15" "43893734" "43893734" "subst" "0.0050365" "01943" "STRC_000059" "g.43893734G>A" "" "" "" "STRC(NM_153700.2):c.4561C>T (p.R1521W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691797" "0" "30" "15" "43900269" "43900269" "subst" "2.44284E-5" "01943" "STRC_000096" "g.43900269C>A" "" "" "" "STRC(NM_153700.2):c.3681+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725098" "0" "90" "15" "43893077" "43893077" "subst" "1.62591E-5" "01943" "STRC_000014" "g.43893077C>A" "" "" "" "STRC(NM_153700.2):c.4837G>T (p.E1613*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725099" "0" "90" "15" "43895583" "43895583" "subst" "9.3464E-5" "01943" "STRC_000034" "g.43895583G>A" "" "" "" "STRC(NM_153700.2):c.4402C>T (p.R1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725100" "0" "50" "15" "43896955" "43896955" "subst" "1.22332E-5" "01943" "STRC_000097" "g.43896955G>C" "" "" "" "STRC(NM_153700.2):c.4020C>G (p.I1340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725101" "0" "50" "15" "43900145" "43900145" "subst" "0.000118109" "01943" "STRC_000098" "g.43900145C>T" "" "" "" "STRC(NM_153700.2):c.3710G>A (p.R1237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725102" "0" "90" "15" "43902548" "43902548" "subst" "0" "02327" "STRC_000099" "g.43902548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725103" "0" "90" "15" "43908413" "43908413" "del" "0" "02327" "STRC_000100" "g.43908413del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806696" "0" "30" "15" "43897498" "43897498" "subst" "0" "01943" "STRC_000101" "g.43897498G>A" "" "" "" "STRC(NM_153700.2):c.3894C>T (p.H1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806697" "0" "50" "15" "43903434" "43903434" "subst" "0.000839585" "01943" "STRC_000102" "g.43903434C>T" "" "" "" "STRC(NM_153700.2):c.3218G>A (p.R1073Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806698" "0" "50" "15" "43910006" "43910006" "subst" "0" "01943" "STRC_000103" "g.43910006C>A" "" "" "" "STRC(NM_153700.2):c.613G>T (p.G205C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813028" "3" "70" "15" "43891761" "43941039" "del" "0" "00000" "STRC_000060" "g.(?_43891761)_(43941039_?)del" "" "{PMID:Ehrenberg 2019:31814694}" "" "del STRC-CATSPER2" "homozygous deletion" "Germline" "yes" "" "0" "" "" "g.(?_43599563)_(43648841_?)del" "" "pathogenic (recessive)" "" "0000854017" "0" "50" "15" "43893606" "43893606" "subst" "0" "02327" "STRC_000104" "g.43893606C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854018" "0" "90" "15" "43900060" "43900060" "subst" "1.23976E-5" "02327" "STRC_000090" "g.43900060C>T" "" "" "" "STRC(NM_153700.2):c.3794+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854019" "0" "90" "15" "43900358" "43900358" "subst" "8.52718E-6" "01943" "STRC_000075" "g.43900358G>A" "" "" "" "STRC(NM_153700.2):c.3601C>T (p.Q1201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854020" "0" "90" "15" "43906636" "43906639" "del" "0" "02327" "STRC_000107" "g.43906636_43906639del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854021" "0" "50" "15" "43908311" "43908311" "subst" "0" "02327" "STRC_000108" "g.43908311A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863839" "0" "50" "15" "43893673" "43893673" "subst" "0.000219307" "02327" "STRC_000105" "g.43893673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863840" "0" "30" "15" "43895586" "43895586" "subst" "0.000950903" "01943" "STRC_000006" "g.43895586C>T" "" "" "" "STRC(NM_153700.2):c.4399G>A (p.V1467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863841" "0" "90" "15" "43906252" "43906252" "subst" "0" "02327" "STRC_000106" "g.43906252C>G" "" "" "" "STRC(NM_153700.2):c.2314-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892052" "0" "50" "15" "43903434" "43903434" "subst" "0.000839585" "02327" "STRC_000102" "g.43903434C>T" "" "" "" "STRC(NM_153700.2):c.3218G>A (p.R1073Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892053" "0" "50" "15" "43905270" "43905270" "subst" "0" "02327" "STRC_000109" "g.43905270C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892054" "0" "90" "15" "43908620" "43908620" "subst" "0" "02327" "STRC_000110" "g.43908620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892056" "0" "90" "15" "43909885" "43909885" "del" "0" "02327" "STRC_000112" "g.43909885del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892057" "0" "10" "15" "43910286" "43910286" "subst" "0" "02327" "STRC_000087" "g.43910286C>A" "" "" "" "STRC(NM_153700.2):c.333G>T (p.G111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892058" "0" "30" "15" "43910517" "43910517" "subst" "0" "02327" "STRC_000113" "g.43910517A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925966" "0" "30" "15" "43908762" "43908762" "subst" "0" "02327" "STRC_000114" "g.43908762C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950348" "0" "50" "15" "43904993" "43904993" "subst" "0" "02327" "STRC_000115" "g.43904993G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981221" "0" "30" "15" "43932701" "43932701" "subst" "0.000831628" "01804" "CKMT1A_000002" "g.43932701A>G" "" "" "" "CATSPER2(NM_172095.4):c.389-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040360" "0" "50" "15" "43906252" "43906252" "subst" "0" "01804" "STRC_000106" "g.43906252C>G" "" "" "" "STRC(NM_153700.2):c.2314-1G>C" "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 CATSPER2 ## Count = 96 "{{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}}" "0000248768" "00025909" "10" "14052" "0" "14052" "0" "c.*12459T>C" "r.(=)" "p.(=)" "" "0000249195" "00025909" "10" "31599" "0" "31599" "0" "c.*30006T>C" "r.(=)" "p.(=)" "" "0000255121" "00025909" "30" "32236" "0" "32236" "0" "c.*30643T>C" "r.(=)" "p.(=)" "" "0000311598" "00025909" "10" "26993" "0" "26993" "0" "c.*25400A>G" "r.(=)" "p.(=)" "" "0000311599" "00025909" "10" "31420" "0" "31420" "0" "c.*29827C>T" "r.(=)" "p.(=)" "" "0000311600" "00025909" "10" "31645" "0" "31645" "0" "c.*30052C>G" "r.(=)" "p.(=)" "" "0000315883" "00025909" "50" "28934" "0" "28934" "0" "c.*27341C>G" "r.(=)" "p.(=)" "" "0000315884" "00025909" "30" "30784" "0" "30784" "0" "c.*29191G>A" "r.(=)" "p.(=)" "" "0000315885" "00025909" "50" "31670" "0" "31670" "0" "c.*30077G>T" "r.(=)" "p.(=)" "" "0000315887" "00025909" "70" "31684" "0" "31684" "0" "c.*30091A>C" "r.(=)" "p.(=)" "" "0000315888" "00025909" "70" "31685" "0" "31685" "0" "c.*30092C>T" "r.(=)" "p.(=)" "" "0000315889" "00025909" "10" "14371" "0" "14371" "0" "c.*12778G>A" "r.(=)" "p.(=)" "" "0000338104" "00025909" "10" "31599" "0" "31599" "0" "c.*30006T>C" "r.(=)" "p.(=)" "" "0000338105" "00025909" "90" "20454" "0" "20454" "0" "c.*18861T>G" "r.(=)" "p.(=)" "" "0000340084" "00025909" "10" "31645" "0" "31645" "0" "c.*30052C>G" "r.(=)" "p.(=)" "" "0000340085" "00025909" "10" "24339" "0" "24339" "0" "c.*22746G>A" "r.(=)" "p.(=)" "" "0000340086" "00025909" "10" "21363" "0" "21363" "0" "c.*19770T>C" "r.(=)" "p.(=)" "" "0000340087" "00025909" "30" "16744" "0" "16744" "0" "c.*15151A>G" "r.(=)" "p.(=)" "" "0000340863" "00025909" "30" "17872" "0" "17872" "0" "c.*16279C>T" "r.(=)" "p.(=)" "" "0000341895" "00025909" "70" "27886" "0" "27886" "0" "c.*26293C>G" "r.(=)" "p.(=)" "" "0000341910" "00025909" "50" "28170" "0" "28170" "0" "c.*26577G>A" "r.(=)" "p.(=)" "" "0000341944" "00025909" "90" "28909" "0" "28909" "0" "c.*27316C>T" "r.(=)" "p.(=)" "" "0000341967" "00025909" "10" "30759" "0" "30759" "0" "c.*29166G>A" "r.(=)" "p.(=)" "" "0000342076" "00025909" "90" "32283" "0" "32283" "0" "c.*30690C>T" "r.(=)" "p.(=)" "" "0000343476" "00025909" "50" "19454" "0" "19454" "0" "c.*17861C>T" "r.(=)" "p.(=)" "" "0000344876" "00025909" "90" "16232" "0" "16232" "0" "c.*14639C>T" "r.(=)" "p.(=)" "" "0000346369" "00025909" "10" "26993" "0" "26993" "0" "c.*25400A>G" "r.(=)" "p.(=)" "" "0000347195" "00025909" "70" "16197" "0" "16197" "0" "c.*14604T>C" "r.(=)" "p.(=)" "" "0000348078" "00025909" "10" "14052" "0" "14052" "0" "c.*12459T>C" "r.(=)" "p.(=)" "" "0000349315" "00025909" "70" "32220" "0" "32220" "0" "c.*30627A>G" "r.(=)" "p.(=)" "" "0000350133" "00025909" "50" "16359" "0" "16359" "0" "c.*14766A>G" "r.(=)" "p.(=)" "" "0000350299" "00025909" "30" "28906" "0" "28906" "0" "c.*27313G>A" "r.(=)" "p.(=)" "" "0000350783" "00025909" "50" "27933" "0" "27933" "0" "c.*26340G>A" "r.(=)" "p.(=)" "" "0000554315" "00025909" "30" "32295" "0" "32295" "0" "c.*30702T>C" "r.(=)" "p.(=)" "" "0000554317" "00025909" "90" "31682" "0" "31683" "0" "c.*30089_*30090dup" "r.(=)" "p.(=)" "" "0000554318" "00025909" "50" "31650" "0" "31650" "0" "c.*30057G>A" "r.(=)" "p.(=)" "" "0000554319" "00025909" "30" "31630" "0" "31630" "0" "c.*30037C>G" "r.(=)" "p.(=)" "" "0000554320" "00025909" "10" "31420" "0" "31420" "0" "c.*29827C>T" "r.(=)" "p.(=)" "" "0000554321" "00025909" "30" "30760" "0" "30760" "0" "c.*29167G>A" "r.(=)" "p.(=)" "" "0000554322" "00025909" "50" "28939" "0" "28939" "0" "c.*27346A>C" "r.(=)" "p.(=)" "" "0000554323" "00025909" "30" "28183" "0" "28183" "0" "c.*26590G>A" "r.(=)" "p.(=)" "" "0000554324" "00025909" "10" "27652" "0" "27652" "0" "c.*26059C>T" "r.(=)" "p.(=)" "" "0000554325" "00025909" "70" "24431" "0" "24431" "0" "c.*22838C>T" "r.(=)" "p.(=)" "" "0000554326" "00025909" "90" "24134" "0" "24134" "0" "c.*22541C>T" "r.(=)" "p.(=)" "" "0000554327" "00025909" "30" "23001" "0" "23001" "0" "c.*21408T>G" "r.(=)" "p.(=)" "" "0000554328" "00025909" "30" "21363" "0" "21363" "0" "c.*19770T>C" "r.(=)" "p.(=)" "" "0000554329" "00025909" "30" "21305" "0" "21305" "0" "c.*19712dup" "r.(?)" "p.(=)" "" "0000554330" "00025909" "90" "21057" "0" "21057" "0" "c.*19464C>T" "r.(=)" "p.(=)" "" "0000554331" "00025909" "70" "19915" "0" "19915" "0" "c.*18322C>T" "r.(=)" "p.(=)" "" "0000554332" "00025909" "50" "18338" "0" "18338" "0" "c.*16745C>G" "r.(=)" "p.(=)" "" "0000554333" "00025909" "70" "16093" "0" "16093" "0" "c.*14500C>G" "r.(=)" "p.(=)" "" "0000554334" "00025909" "50" "15647" "0" "15647" "0" "c.*14054T>C" "r.(=)" "p.(=)" "" "0000554335" "00025909" "30" "14551" "0" "14551" "0" "c.*12958A>T" "r.(=)" "p.(=)" "" "0000554336" "00025909" "30" "14544" "0" "14544" "0" "c.*12951C>T" "r.(=)" "p.(=)" "" "0000554337" "00025909" "50" "14291" "0" "14291" "0" "c.*12698C>A" "r.(=)" "p.(=)" "" "0000554338" "00025909" "30" "14282" "0" "14282" "0" "c.*12689C>G" "r.(=)" "p.(=)" "" "0000554339" "00025909" "10" "14206" "0" "14206" "0" "c.*12613G>T" "r.(=)" "p.(=)" "" "0000554340" "00025909" "30" "13972" "0" "13972" "0" "c.*12379C>T" "r.(=)" "p.(=)" "" "0000615312" "00025909" "50" "32295" "0" "32295" "0" "c.*30702T>C" "r.(=)" "p.(=)" "" "0000615313" "00025909" "90" "28931" "0" "28931" "0" "c.*27338G>A" "r.(=)" "p.(=)" "" "0000615314" "00025909" "90" "18316" "0" "18316" "0" "c.*16723C>T" "r.(=)" "p.(=)" "" "0000615315" "00025909" "50" "16308" "0" "16308" "0" "c.*14715G>C" "r.(=)" "p.(=)" "" "0000615316" "00025909" "50" "16194" "0" "16194" "0" "c.*14601G>C" "r.(=)" "p.(=)" "" "0000615317" "00025909" "50" "14192" "0" "14194" "0" "c.*12599_*12601dup" "r.(=)" "p.(=)" "" "0000623226" "00025909" "90" "24432" "0" "24432" "0" "c.*22839G>A" "r.(=)" "p.(=)" "" "0000680176" "00025909" "30" "14226" "0" "14226" "0" "c.*12633C>G" "r.(=)" "p.(=)" "" "0000691796" "00025909" "30" "30758" "0" "30758" "0" "c.*29165C>T" "r.(=)" "p.(=)" "" "0000691797" "00025909" "30" "24223" "0" "24223" "0" "c.*22630G>T" "r.(=)" "p.(=)" "" "0000725098" "00025909" "90" "31415" "0" "31415" "0" "c.*29822G>T" "r.(=)" "p.(=)" "" "0000725099" "00025909" "90" "28909" "0" "28909" "0" "c.*27316C>T" "r.(=)" "p.(=)" "" "0000725100" "00025909" "50" "27537" "0" "27537" "0" "c.*25944C>G" "r.(=)" "p.(=)" "" "0000725101" "00025909" "50" "24347" "0" "24347" "0" "c.*22754G>A" "r.(=)" "p.(=)" "" "0000725102" "00025909" "90" "21944" "0" "21944" "0" "c.*20351C>T" "r.(=)" "p.(=)" "" "0000725103" "00025909" "90" "16083" "0" "16083" "0" "c.*14490del" "r.(?)" "p.(=)" "" "0000806696" "00025909" "30" "26994" "0" "26994" "0" "c.*25401C>T" "r.(=)" "p.(=)" "" "0000806697" "00025909" "50" "21058" "0" "21058" "0" "c.*19465G>A" "r.(=)" "p.(=)" "" "0000806698" "00025909" "50" "14486" "0" "14486" "0" "c.*12893G>T" "r.(=)" "p.(=)" "" "0000813028" "00025909" "90" "0" "0" "0" "0" "c.-215_*127{0}" "r.0" "p.0" "_1_13_" "0000854017" "00025909" "50" "30886" "0" "30886" "0" "c.*29293G>C" "r.(=)" "p.(=)" "" "0000854018" "00025909" "90" "24432" "0" "24432" "0" "c.*22839G>A" "r.(=)" "p.(=)" "" "0000854019" "00025909" "90" "24134" "0" "24134" "0" "c.*22541C>T" "r.(=)" "p.(=)" "" "0000854020" "00025909" "90" "17855" "0" "17858" "0" "c.*16262_*16265del" "r.(=)" "p.(=)" "" "0000854021" "00025909" "50" "16181" "0" "16181" "0" "c.*14588T>G" "r.(=)" "p.(=)" "" "0000863839" "00025909" "50" "30819" "0" "30819" "0" "c.*29226G>A" "r.(=)" "p.(=)" "" "0000863840" "00025909" "30" "28906" "0" "28906" "0" "c.*27313G>A" "r.(=)" "p.(=)" "" "0000863841" "00025909" "90" "18240" "0" "18240" "0" "c.*16647G>C" "r.(=)" "p.(=)" "" "0000892052" "00025909" "50" "21058" "0" "21058" "0" "c.*19465G>A" "r.(=)" "p.(=)" "" "0000892053" "00025909" "50" "19222" "0" "19222" "0" "c.*17629G>T" "r.(=)" "p.(=)" "" "0000892054" "00025909" "90" "15872" "0" "15872" "0" "c.*14279C>T" "r.(=)" "p.(=)" "" "0000892056" "00025909" "90" "14612" "0" "14612" "0" "c.*13019del" "r.(?)" "p.(=)" "" "0000892057" "00025909" "10" "14206" "0" "14206" "0" "c.*12613G>T" "r.(=)" "p.(=)" "" "0000892058" "00025909" "30" "13975" "0" "13975" "0" "c.*12382T>C" "r.(=)" "p.(=)" "" "0000925966" "00025909" "30" "15730" "0" "15730" "0" "c.*14137G>A" "r.(=)" "p.(=)" "" "0000950348" "00025909" "50" "19499" "0" "19499" "0" "c.*17906C>T" "r.(=)" "p.(=)" "" "0000981221" "00025909" "30" "389" "-7" "389" "-7" "c.389-7T>C" "r.(=)" "p.(=)" "" "0001040360" "00025909" "50" "18240" "0" "18240" "0" "c.*16647G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000385854" "0000813028"