### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKD1L1) # 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}}" "PKD1L1" "polycystic kidney disease 1 like 1" "7" "p12.3" "unknown" "NC_000007.13" "UD_132439567486" "" "https://www.LOVD.nl/PKD1L1" "" "1" "18053" "168507" "609721" "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/PKD1L1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-03-13 16:27:22" "00006" "2025-11-07 15:53:58" ## 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}}" "00016232" "PKD1L1" "polycystic kidney disease 1 like 1" "001" "NM_138295.3" "" "NP_612152.1" "" "" "" "-34" "9041" "8550" "47988071" "47814250" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05128" "HTX" "heterotaxy, visceral (HTX, situs inversus/situs ambiguus)" "" "" "" "" "" "00006" "2016-01-31 12:35:57" "" "" "06739" "HTX8" "Heterotaxy, visceral, 8, autosomal" "AR" "617205" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PKD1L1" "05128" "PKD1L1" "06739" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00419642" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9162" "00468269" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic;black" "GMKF_8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00419642" "00198" "00468269" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05128, 06739 ## Count = 2 "{{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}}" "0000310923" "00198" "00419642" "02300" "Unknown" "9m" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000353421" "00198" "00468269" "00006" "Di-genic" "" "see paper; ..., double outlet right ventricle, pulmonary artery atresia, mitral atresia, hypoplastic left ventricle, right aortic arch with mirror-image branching; atrial situs solitus; right ventricular situs; right arterial situs; double outlet right ventricle (likely malposed great arteries)" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000420946" "00419642" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469935" "00468269" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 191 "{{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}}" "0000331565" "0" "50" "7" "47840305" "47840305" "subst" "0" "01804" "C7orf69_000001" "g.47840305G>A" "" "" "" "C7orf69(NM_025031.2):c.108+5264G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47800707G>A" "" "VUS" "" "0000331566" "0" "50" "7" "47925332" "47925332" "subst" "3.66026E-5" "01804" "PKD1L1_000001" "g.47925332G>A" "" "" "" "PKD1L1(NM_138295.3):c.3157C>T (p.(Arg1053Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47885734G>A" "" "VUS" "" "0000532111" "0" "30" "7" "47840307" "47840307" "subst" "4.46715E-5" "02327" "C7orf69_000002" "g.47840307C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47800709C>A" "" "likely benign" "" "0000532113" "0" "30" "7" "47840310" "47840310" "subst" "0.0299127" "01804" "C7orf69_000004" "g.47840310C>G" "" "" "" "PKD1L1(NM_138295.5):c.8130G>C (p.(Gln2710His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47800712C>G" "" "likely benign" "" "0000532114" "0" "30" "7" "47840453" "47840453" "subst" "6.09503E-5" "01804" "C7orf69_000005" "g.47840453C>T" "" "" "" "PKD1L1(NM_138295.3):c.7987G>A (p.(Ala2663Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47800855C>T" "" "likely benign" "" "0000532116" "0" "30" "7" "47847839" "47847839" "subst" "0.00193836" "01804" "C7orf69_000007" "g.47847839G>A" "" "" "" "PKD1L1(NM_138295.3):c.7827+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47808241G>A" "" "likely benign" "" "0000532118" "0" "30" "7" "47847885" "47847885" "subst" "0.000276144" "02327" "C7orf69_000009" "g.47847885C>A" "" "" "" "PKD1L1(NM_138295.5):c.7787G>T (p.(Arg2596Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47808287C>A" "" "likely benign" "" "0000532119" "0" "50" "7" "47853567" "47853567" "subst" "2.43728E-5" "02327" "C7orf69_000010" "g.47853567T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47813969T>C" "" "VUS" "" "0000532120" "0" "10" "7" "47854941" "47854941" "subst" "0.00129162" "01943" "C7orf69_000011" "g.47854941C>T" "" "" "" "PKD1L1(NM_138295.4):c.7080G>A (p.P2360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47815343C>T" "" "benign" "" "0000532121" "0" "10" "7" "47854949" "47854949" "subst" "0.00127408" "01943" "C7orf69_000012" "g.47854949G>A" "" "" "" "PKD1L1(NM_138295.4):c.7072C>T (p.R2358C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47815351G>A" "" "benign" "" "0000532122" "0" "30" "7" "47860690" "47860690" "subst" "0.00185644" "01804" "C7orf69_000013" "g.47860690G>A" "" "" "" "PKD1L1(NM_138295.3):c.6949C>T (p.(Arg2317Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47821092G>A" "" "likely benign" "" "0000532123" "0" "10" "7" "47860690" "47860690" "subst" "0.00185644" "02327" "C7orf69_000013" "g.47860690G>A" "" "" "" "PKD1L1(NM_138295.3):c.6949C>T (p.(Arg2317Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47821092G>A" "" "benign" "" "0000532124" "0" "30" "7" "47867040" "47867040" "subst" "5.77358E-5" "02327" "C7orf69_000014" "g.47867040G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47827442G>C" "" "likely benign" "" "0000532125" "0" "30" "7" "47867069" "47867069" "subst" "2.52949E-5" "02327" "C7orf69_000015" "g.47867069G>A" "" "" "" "PKD1L1(NM_138295.5):c.6736-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47827471G>A" "" "likely benign" "" "0000532129" "0" "50" "7" "47876640" "47876640" "subst" "4.06372E-6" "01804" "C7orf69_000019" "g.47876640G>A" "" "" "" "PKD1L1(NM_138295.3):c.5822C>T (p.(Ser1941Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47837042G>A" "" "VUS" "" "0000532130" "0" "30" "7" "47879085" "47879085" "subst" "4.9764E-5" "02327" "C7orf69_000020" "g.47879085G>A" "" "" "" "PKD1L1(NM_138295.4):c.5728C>T (p.R1910W), PKD1L1(NM_138295.5):c.5728C>T (p.R1910W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839487G>A" "" "likely benign" "" "0000532131" "0" "50" "7" "47879150" "47879150" "subst" "0" "02327" "C7orf69_000021" "g.47879150C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839552C>T" "" "VUS" "" "0000532132" "0" "30" "7" "47880144" "47880144" "subst" "0.00431812" "02325" "C7orf69_000022" "g.47880144C>T" "" "" "" "PKD1L1(NM_138295.3):c.5467G>A (p.(Asp1823Asn)), PKD1L1(NM_138295.5):c.5467G>A (p.D1823N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47840546C>T" "" "likely benign" "" "0000532133" "0" "50" "7" "47880147" "47880147" "subst" "0" "01804" "C7orf69_000023" "g.47880147C>T" "" "" "" "PKD1L1(NM_138295.3):c.5464G>A (p.(Gly1822Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47840549C>T" "" "VUS" "" "0000532134" "0" "50" "7" "47882608" "47882608" "subst" "4.87912E-5" "02327" "C7orf69_000024" "g.47882608C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47843010C>T" "" "VUS" "" "0000532135" "0" "30" "7" "47884618" "47884618" "subst" "1.21902E-5" "02327" "C7orf69_000025" "g.47884618C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47845020C>T" "" "likely benign" "" "0000532136" "0" "30" "7" "47884663" "47884663" "subst" "0.000675401" "01943" "C7orf69_000026" "g.47884663C>T" "" "" "" "PKD1L1(NM_138295.4):c.5167G>A (p.A1723T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47845065C>T" "" "likely benign" "" "0000532139" "0" "50" "7" "47892745" "47892745" "subst" "0.00239613" "01943" "C7orf69_000028" "g.47892745A>G" "" "" "" "PKD1L1(NM_138295.3):c.4940T>C (p.(Ile1647Thr)), PKD1L1(NM_138295.4):c.4940T>C (p.I1647T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47853147A>G" "" "VUS" "" "0000532141" "0" "30" "7" "47913548" "47913548" "subst" "0.000361877" "02327" "C7orf69_000030" "g.47913548A>T" "" "" "" "PKD1L1(NM_138295.5):c.3845T>A (p.V1282E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47873950A>T" "" "likely benign" "" "0000532142" "0" "30" "7" "47913548" "47913548" "subst" "0.000361877" "02326" "C7orf69_000030" "g.47913548A>T" "" "" "" "PKD1L1(NM_138295.5):c.3845T>A (p.V1282E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47873950A>T" "" "likely benign" "" "0000532143" "0" "30" "7" "47915792" "47915792" "subst" "8.12453E-6" "02327" "C7orf69_000031" "g.47915792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47876194G>A" "" "likely benign" "" "0000532144" "0" "30" "7" "47917120" "47917120" "subst" "0.000158521" "02327" "C7orf69_000032" "g.47917120G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47877522G>T" "" "likely benign" "" "0000532145" "0" "10" "7" "47917126" "47917126" "subst" "0.0011622" "02327" "C7orf69_000033" "g.47917126T>C" "" "" "" "PKD1L1(NM_138295.5):c.3624A>G (p.(Ala1208=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47877528T>C" "" "benign" "" "0000532146" "0" "30" "7" "47921572" "47921572" "subst" "0.00154079" "01804" "C7orf69_000034" "g.47921572A>C" "" "" "" "PKD1L1(NM_138295.3):c.3377T>G (p.(Val1126Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47881974A>C" "" "likely benign" "" "0000532147" "0" "30" "7" "47925485" "47925485" "subst" "0.0164084" "01804" "C7orf69_000035" "g.47925485T>G" "" "" "" "PKD1L1(NM_138295.5):c.3004A>C (p.(Thr1002Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885887T>G" "" "likely benign" "" "0000532148" "0" "10" "7" "47925507" "47925507" "subst" "0.000495637" "02327" "C7orf69_000036" "g.47925507G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885909G>A" "" "benign" "" "0000532149" "0" "30" "7" "47925510" "47925510" "subst" "0.000711648" "01943" "C7orf69_000037" "g.47925510T>A" "" "" "" "PKD1L1(NM_138295.4):c.2979A>T (p.S993=), PKD1L1(NM_138295.5):c.2979A>T (p.S993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885912T>A" "" "likely benign" "" "0000532150" "0" "30" "7" "47925608" "47925608" "subst" "0.000117965" "02327" "C7orf69_000038" "g.47925608C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47886010C>T" "" "likely benign" "" "0000532151" "0" "50" "7" "47927644" "47927644" "subst" "4.06134E-6" "02327" "C7orf69_000039" "g.47927644A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47888046A>G" "" "VUS" "" "0000532152" "0" "10" "7" "47927744" "47927744" "subst" "0.0398661" "01804" "C7orf69_000040" "g.47927744C>T" "" "" "" "PKD1L1(NM_138295.5):c.2680G>A (p.(Val894Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47888146C>T" "" "benign" "" "0000532153" "0" "30" "7" "47930180" "47930180" "subst" "0.016204" "01804" "C7orf69_000041" "g.47930180T>C" "" "" "" "PKD1L1(NM_138295.5):c.2635A>G (p.(Thr879Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47890582T>C" "" "likely benign" "" "0000532154" "0" "50" "7" "47933652" "47933652" "subst" "0.000577966" "01804" "C7orf69_000042" "g.47933652T>A" "" "" "" "PKD1L1(NM_138295.3):c.2276A>T (p.(Gln759Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47894055T>A" "" "VUS" "" "0000532155" "0" "10" "7" "47955049" "47955049" "subst" "0" "02327" "C7orf69_000043" "g.47955049A>G" "" "" "" "PKD1L1(NM_138295.3):c.1208T>C (p.(Leu403Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47915452A>G" "" "benign" "" "0000532156" "0" "30" "7" "47968830" "47968830" "subst" "0.000321146" "01804" "C7orf69_000044" "g.47968830G>A" "" "" "" "PKD1L1(NM_138295.3):c.1031C>T (p.(Ala344Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47929233G>A" "" "likely benign" "" "0000532157" "0" "50" "7" "47968928" "47968928" "subst" "0.00653759" "02327" "C7orf69_000045" "g.47968928A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47929331A>G" "" "VUS" "" "0000532159" "0" "30" "7" "47970696" "47970696" "subst" "0" "02327" "C7orf69_000047" "g.47970696C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47931099C>T" "" "likely benign" "" "0000532160" "0" "30" "7" "47970707" "47970707" "subst" "0.00418834" "01804" "C7orf69_000048" "g.47970707G>A" "" "" "" "PKD1L1(NM_138295.3):c.731C>T (p.(Pro244Leu)), PKD1L1(NM_138295.4):c.731C>T (p.P244L), PKD1L1(NM_138295.5):c.731C>T (p.P244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47931110G>A" "" "likely benign" "" "0000611095" "0" "30" "7" "47840336" "47840336" "subst" "2.84255E-5" "02327" "C7orf69_000049" "g.47840336G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47800738G>A" "" "likely benign" "" "0000611096" "0" "30" "7" "47847866" "47847866" "subst" "4.06095E-6" "01943" "C7orf69_000050" "g.47847866G>C" "" "" "" "PKD1L1(NM_138295.4):c.7806C>G (p.T2602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47808268G>C" "" "likely benign" "" "0000611097" "0" "30" "7" "47847877" "47847877" "subst" "0.000272072" "02326" "C7orf69_000051" "g.47847877T>C" "" "" "" "PKD1L1(NM_138295.4):c.7795A>G (p.M2599V), PKD1L1(NM_138295.5):c.7795A>G (p.M2599V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47808279T>C" "" "likely benign" "" "0000611098" "0" "50" "7" "47847951" "47847951" "subst" "0" "02325" "C7orf69_000052" "g.47847951G>T" "" "" "" "PKD1L1(NM_138295.5):c.7721C>A (p.A2574E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47808353G>T" "" "VUS" "" "0000611099" "0" "50" "7" "47872687" "47872687" "subst" "0" "02327" "C7orf69_000053" "g.47872687C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47833089C>T" "" "VUS" "" "0000611100" "0" "30" "7" "47872800" "47872800" "subst" "1.23445E-5" "02327" "C7orf69_000054" "g.47872800C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47833202C>T" "" "likely benign" "" "0000611101" "0" "30" "7" "47874579" "47874579" "subst" "0.00377033" "02327" "C7orf69_000018" "g.47874579G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47834981G>C" "" "likely benign" "" "0000611102" "0" "30" "7" "47874830" "47874830" "subst" "5.56271E-5" "02327" "C7orf69_000055" "g.47874830G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47835232G>A" "" "likely benign" "" "0000611103" "0" "50" "7" "47876669" "47876670" "delins" "0" "02327" "C7orf69_000056" "g.47876669_47876670delinsATG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47837071_47837072delinsATG" "" "VUS" "" "0000611104" "0" "30" "7" "47879110" "47879110" "subst" "1.65872E-5" "02327" "C7orf69_000057" "g.47879110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839512G>A" "" "likely benign" "" "0000611105" "0" "10" "7" "47880144" "47880144" "subst" "0.00431812" "02327" "C7orf69_000022" "g.47880144C>T" "" "" "" "PKD1L1(NM_138295.3):c.5467G>A (p.(Asp1823Asn)), PKD1L1(NM_138295.5):c.5467G>A (p.D1823N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47840546C>T" "" "benign" "" "0000611106" "0" "30" "7" "47884634" "47884634" "subst" "6.90827E-5" "02327" "C7orf69_000059" "g.47884634C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47845036C>T" "" "likely benign" "" "0000611107" "0" "30" "7" "47886522" "47886522" "subst" "0.000692589" "01943" "C7orf69_000060" "g.47886522C>T" "" "" "" "PKD1L1(NM_138295.3):c.5108G>A (p.(Arg1703His)), PKD1L1(NM_138295.4):c.5108G>A (p.R1703H), PKD1L1(NM_138295.5):c.5108G>A (p.R1703H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47846924C>T" "" "likely benign" "" "0000611108" "0" "30" "7" "47915740" "47915740" "subst" "6.09276E-5" "02327" "C7orf69_000061" "g.47915740A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47876142A>C" "" "likely benign" "" "0000611109" "0" "70" "7" "47921537" "47921537" "subst" "5.4783E-5" "02327" "C7orf69_000063" "g.47921537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47881939G>A" "" "likely pathogenic" "" "0000611110" "0" "10" "7" "47924233" "47924233" "subst" "0.0160916" "02327" "C7orf69_000064" "g.47924233G>A" "" "" "" "PKD1L1(NM_138295.5):c.3228C>T (p.(Asp1076=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47884635G>A" "" "benign" "" "0000611111" "0" "10" "7" "47925485" "47925485" "subst" "0.0164084" "02327" "C7orf69_000035" "g.47925485T>G" "" "" "" "PKD1L1(NM_138295.5):c.3004A>C (p.(Thr1002Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885887T>G" "" "benign" "" "0000611112" "0" "30" "7" "47925535" "47925535" "subst" "0.00823707" "02327" "C7orf69_000065" "g.47925535G>A" "" "" "" "PKD1L1(NM_138295.3):c.2954C>T (p.(Thr985Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885937G>A" "" "likely benign" "" "0000611113" "0" "10" "7" "47925609" "47925609" "subst" "0.0162322" "02327" "C7orf69_000066" "g.47925609G>A" "" "" "" "PKD1L1(NM_138295.5):c.2880C>T (p.(Leu960=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47886011G>A" "" "benign" "" "0000611114" "0" "30" "7" "47930136" "47930136" "subst" "0.00607166" "02327" "C7orf69_000067" "g.47930136G>A" "" "" "" "PKD1L1(NM_138295.5):c.2675+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47890538G>A" "" "likely benign" "" "0000611115" "0" "30" "7" "47930379" "47930379" "subst" "0.000296134" "02327" "C7orf69_000068" "g.47930379G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47890781G>C" "" "likely benign" "" "0000611116" "0" "30" "7" "47944210" "47944210" "subst" "6.54798E-5" "02327" "C7orf69_000069" "g.47944210G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47904613G>A" "" "likely benign" "" "0000611117" "0" "50" "7" "47945556" "47945556" "subst" "1.75928E-5" "01804" "C7orf69_000070" "g.47945556G>A" "" "" "" "PKD1L1(NM_138295.3):c.1406C>T (p.(Thr469Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47905959G>A" "" "VUS" "" "0000611118" "0" "30" "7" "47968830" "47968830" "subst" "0.000321146" "02327" "C7orf69_000044" "g.47968830G>A" "" "" "" "PKD1L1(NM_138295.3):c.1031C>T (p.(Ala344Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47929233G>A" "" "likely benign" "" "0000611119" "0" "50" "7" "47971528" "47971528" "subst" "4.10691E-6" "02327" "C7orf69_000071" "g.47971528C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47931931C>T" "" "VUS" "" "0000611120" "0" "30" "7" "47976542" "47976542" "subst" "0" "02327" "C7orf69_000073" "g.47976542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47936945G>A" "" "likely benign" "" "0000611121" "0" "30" "7" "47988031" "47988031" "subst" "0.000121856" "02327" "C7orf69_000074" "g.47988031C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47948434C>T" "" "likely benign" "" "0000621892" "0" "50" "7" "47882624" "47882624" "subst" "0" "02325" "C7orf69_000058" "g.47882624C>A" "" "" "" "PKD1L1(NM_138295.5):c.5381G>T (p.G1794V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47843026C>A" "" "VUS" "" "0000621893" "0" "30" "7" "47917128" "47917128" "subst" "4.06342E-6" "01943" "C7orf69_000062" "g.47917128C>T" "" "" "" "PKD1L1(NM_138295.4):c.3622G>A (p.A1208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47877530C>T" "" "likely benign" "" "0000621894" "0" "30" "7" "47971659" "47971659" "subst" "0.00126201" "01943" "C7orf69_000072" "g.47971659T>C" "" "" "" "PKD1L1(NM_138295.3):c.399-6A>G (p.?), PKD1L1(NM_138295.4):c.399-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47932062T>C" "" "likely benign" "" "0000655838" "0" "50" "7" "47853578" "47853578" "subst" "0" "01943" "C7orf69_000075" "g.47853578C>T" "" "" "" "PKD1L1(NM_138295.4):c.7124G>A (p.G2375D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47813980C>T" "" "VUS" "" "0000655839" "0" "30" "7" "47867069" "47867069" "subst" "2.52949E-5" "02325" "C7orf69_000015" "g.47867069G>A" "" "" "" "PKD1L1(NM_138295.5):c.6736-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47827471G>A" "" "likely benign" "" "0000655840" "0" "30" "7" "47879085" "47879085" "subst" "4.9764E-5" "01943" "C7orf69_000020" "g.47879085G>A" "" "" "" "PKD1L1(NM_138295.4):c.5728C>T (p.R1910W), PKD1L1(NM_138295.5):c.5728C>T (p.R1910W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47839487G>A" "" "likely benign" "" "0000655842" "0" "50" "7" "47882639" "47882639" "subst" "3.65628E-5" "01943" "C7orf69_000076" "g.47882639T>C" "" "" "" "PKD1L1(NM_138295.4):c.5366A>G (p.E1789G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47843041T>C" "" "VUS" "" "0000655843" "0" "30" "7" "47925510" "47925510" "subst" "0.000711648" "02326" "C7orf69_000037" "g.47925510T>A" "" "" "" "PKD1L1(NM_138295.4):c.2979A>T (p.S993=), PKD1L1(NM_138295.5):c.2979A>T (p.S993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47885912T>A" "" "likely benign" "" "0000655844" "0" "30" "7" "47927580" "47927580" "subst" "0" "01804" "C7orf69_000077" "g.47927580C>A" "" "" "" "PKD1L1(NM_138295.3):c.2836+8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47887982C>A" "" "likely benign" "" "0000655845" "0" "10" "7" "47930136" "47930136" "subst" "0.00607166" "02326" "C7orf69_000067" "g.47930136G>A" "" "" "" "PKD1L1(NM_138295.5):c.2675+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47890538G>A" "" "benign" "" "0000655846" "0" "30" "7" "47930313" "47930313" "subst" "3.25156E-5" "01943" "C7orf69_000078" "g.47930313G>A" "" "" "" "PKD1L1(NM_138295.4):c.2502C>T (p.F834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47890715G>A" "" "likely benign" "" "0000655847" "0" "10" "7" "47937636" "47937636" "subst" "0.000711828" "02326" "C7orf69_000079" "g.47937636G>A" "" "" "" "PKD1L1(NM_138295.5):c.2220C>T (p.L740=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47898039G>A" "" "benign" "" "0000655848" "0" "10" "7" "47947684" "47947684" "subst" "0.000973706" "02326" "C7orf69_000080" "g.47947684C>T" "" "" "" "PKD1L1(NM_138295.5):c.1392G>A (p.(Val464=), p.V464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47908087C>T" "" "benign" "" "0000655849" "0" "30" "7" "47970707" "47970707" "subst" "0.00418834" "01943" "C7orf69_000048" "g.47970707G>A" "" "" "" "PKD1L1(NM_138295.3):c.731C>T (p.(Pro244Leu)), PKD1L1(NM_138295.4):c.731C>T (p.P244L), PKD1L1(NM_138295.5):c.731C>T (p.P244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47931110G>A" "" "likely benign" "" "0000678112" "0" "50" "7" "47879085" "47879085" "subst" "4.9764E-5" "02326" "C7orf69_000020" "g.47879085G>A" "" "" "" "PKD1L1(NM_138295.4):c.5728C>T (p.R1910W), PKD1L1(NM_138295.5):c.5728C>T (p.R1910W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678113" "0" "30" "7" "47882619" "47882619" "subst" "8.1275E-6" "01804" "C7orf69_000081" "g.47882619G>T" "" "" "" "PKD1L1(NM_138295.3):c.5386C>A (p.(Gln1796Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678114" "0" "10" "7" "47884583" "47884583" "subst" "0.000355241" "02326" "C7orf69_000082" "g.47884583T>A" "" "" "" "PKD1L1(NM_138295.5):c.5237+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678115" "0" "50" "7" "47897285" "47897285" "subst" "8.12242E-5" "02326" "C7orf69_000083" "g.47897285G>A" "" "" "" "PKD1L1(NM_138295.5):c.4508C>T (p.A1503V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678116" "0" "30" "7" "47898376" "47898376" "subst" "0.000121846" "02326" "C7orf69_000084" "g.47898376G>A" "" "" "" "PKD1L1(NM_138295.5):c.4257C>T (p.L1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678117" "0" "30" "7" "47925458" "47925458" "subst" "0" "01943" "C7orf69_000085" "g.47925458C>T" "" "" "" "PKD1L1(NM_138295.4):c.3031G>A (p.E1011K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678118" "0" "50" "7" "47942013" "47942013" "subst" "8.12427E-6" "02326" "C7orf69_000086" "g.47942013G>A" "" "" "" "PKD1L1(NM_138295.5):c.2027C>T (p.P676L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678119" "0" "10" "7" "47968850" "47968850" "subst" "0.000609236" "02326" "C7orf69_000087" "g.47968850G>C" "" "" "" "PKD1L1(NM_138295.5):c.1011C>G (p.H337Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690012" "0" "30" "7" "47832346" "47832346" "subst" "6.50533E-5" "01943" "C7orf69_000088" "g.47832346T>C" "" "" "" "PKD1L1(NM_138295.4):c.8405A>G (p.K2802R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690013" "0" "50" "7" "47851578" "47851578" "subst" "0.00102675" "01943" "C7orf69_000089" "g.47851578G>A" "" "" "" "PKD1L1(NM_138295.4):c.7418C>T (p.S2473F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690014" "0" "30" "7" "47894557" "47894557" "subst" "1.21919E-5" "02326" "C7orf69_000090" "g.47894557G>A" "" "" "" "PKD1L1(NM_138295.5):c.4782C>T (p.N1594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690015" "0" "30" "7" "47930194" "47930194" "subst" "0.000853201" "02326" "C7orf69_000091" "g.47930194C>T" "" "" "" "PKD1L1(NM_138295.5):c.2621G>A (p.R874Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690016" "0" "30" "7" "47933601" "47933601" "subst" "4.1247E-6" "01943" "C7orf69_000092" "g.47933601C>T" "" "" "" "PKD1L1(NM_138295.4):c.2327G>A (p.R776Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690017" "0" "30" "7" "47968953" "47968953" "subst" "0.0038698" "01943" "C7orf69_000093" "g.47968953C>T" "" "" "" "PKD1L1(NM_138295.4):c.908G>A (p.R303Q), PKD1L1(NM_138295.5):c.908G>A (p.(Arg303Gln), p.R303Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721469" "0" "30" "7" "47851455" "47851455" "subst" "0.000413255" "01943" "C7orf69_000094" "g.47851455C>T" "" "" "" "PKD1L1(NM_138295.3):c.7541G>A (p.(Arg2514His)), PKD1L1(NM_138295.4):c.7541G>A (p.R2514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721470" "0" "30" "7" "47851455" "47851455" "subst" "0.000413255" "01804" "C7orf69_000094" "g.47851455C>T" "" "" "" "PKD1L1(NM_138295.3):c.7541G>A (p.(Arg2514His)), PKD1L1(NM_138295.4):c.7541G>A (p.R2514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721471" "0" "50" "7" "47851581" "47851581" "subst" "1.88589E-5" "01943" "C7orf69_000095" "g.47851581A>G" "" "" "" "PKD1L1(NM_138295.4):c.7415T>C (p.V2472A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721472" "0" "30" "7" "47860678" "47860678" "subst" "7.71856E-5" "01804" "C7orf69_000096" "g.47860678T>A" "" "" "" "PKD1L1(NM_138295.3):c.6961A>T (p.(Thr2321Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721473" "0" "50" "7" "47876596" "47876596" "subst" "8.12579E-6" "01943" "C7orf69_000097" "g.47876596G>A" "" "" "" "PKD1L1(NM_138295.4):c.5866C>T (p.R1956C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721474" "0" "30" "7" "47880144" "47880144" "subst" "0.00431812" "01804" "C7orf69_000022" "g.47880144C>T" "" "" "" "PKD1L1(NM_138295.3):c.5467G>A (p.(Asp1823Asn)), PKD1L1(NM_138295.5):c.5467G>A (p.D1823N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721475" "0" "30" "7" "47886632" "47886632" "subst" "8.37528E-6" "01943" "C7orf69_000098" "g.47886632G>A" "" "" "" "PKD1L1(NM_138295.4):c.4998C>T (p.D1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721476" "0" "30" "7" "47913479" "47913479" "del" "8.41085E-6" "02326" "C7orf69_000099" "g.47913479del" "" "" "" "PKD1L1(NM_138295.5):c.3896+18delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721477" "0" "70" "7" "47920346" "47920347" "ins" "0" "01943" "C7orf69_000100" "g.47920346_47920347insC" "" "" "" "PKD1L1(NM_138295.4):c.3499_3500insG (p.Y1167*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721478" "0" "30" "7" "47944856" "47944856" "subst" "4.06108E-6" "01943" "C7orf69_000101" "g.47944856G>C" "" "" "" "PKD1L1(NM_138295.4):c.1589C>G (p.T530S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721479" "0" "30" "7" "47944926" "47944926" "subst" "0.000265323" "02325" "C7orf69_000102" "g.47944926T>C" "" "" "" "PKD1L1(NM_138295.5):c.1523-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803162" "0" "30" "7" "47854969" "47854969" "subst" "0.000146305" "01943" "C7orf69_000103" "g.47854969G>A" "" "" "" "PKD1L1(NM_138295.4):c.7052C>T (p.P2351L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803163" "0" "50" "7" "47886483" "47886483" "subst" "2.13593E-5" "02326" "C7orf69_000104" "g.47886483T>C" "" "" "" "PKD1L1(NM_138295.5):c.5147A>G (p.N1716S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803164" "0" "30" "7" "47886522" "47886522" "subst" "0.000692589" "02326" "C7orf69_000060" "g.47886522C>T" "" "" "" "PKD1L1(NM_138295.3):c.5108G>A (p.(Arg1703His)), PKD1L1(NM_138295.4):c.5108G>A (p.R1703H), PKD1L1(NM_138295.5):c.5108G>A (p.R1703H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803165" "0" "30" "7" "47921626" "47921626" "subst" "4.06497E-6" "01943" "C7orf69_000105" "g.47921626C>T" "" "" "" "PKD1L1(NM_138295.4):c.3323G>A (p.G1108E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803166" "0" "30" "7" "47925331" "47925331" "subst" "0.000398718" "01943" "C7orf69_000106" "g.47925331C>T" "" "" "" "PKD1L1(NM_138295.4):c.3158G>A (p.R1053H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803167" "0" "30" "7" "47933472" "47933472" "subst" "0.00119227" "02325" "C7orf69_000107" "g.47933472C>T" "" "" "" "PKD1L1(NM_138295.5):c.2453+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803168" "0" "30" "7" "47944839" "47944839" "subst" "4.06091E-6" "01943" "C7orf69_000108" "g.47944839G>A" "" "" "" "PKD1L1(NM_138295.4):c.1606C>T (p.L536=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803169" "0" "10" "7" "47968953" "47968953" "subst" "0.0038698" "02326" "C7orf69_000093" "g.47968953C>T" "" "" "" "PKD1L1(NM_138295.4):c.908G>A (p.R303Q), PKD1L1(NM_138295.5):c.908G>A (p.(Arg303Gln), p.R303Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803170" "0" "30" "7" "47983009" "47983009" "subst" "1.21927E-5" "02326" "C7orf69_000109" "g.47983009T>G" "" "" "" "PKD1L1(NM_138295.5):c.144A>C (p.G48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851625" "0" "30" "7" "47876597" "47876597" "subst" "0.00118627" "01943" "C7orf69_000110" "g.47876597C>T" "" "" "" "PKD1L1(NM_138295.4):c.5865G>A (p.P1955=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851626" "0" "30" "7" "47968867" "47968867" "subst" "0.000211162" "02326" "C7orf69_000116" "g.47968867C>T" "" "" "" "PKD1L1(NM_138295.5):c.994G>A (p.V332I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860840" "0" "30" "7" "47847877" "47847877" "subst" "0.000272072" "01943" "C7orf69_000051" "g.47847877T>C" "" "" "" "PKD1L1(NM_138295.4):c.7795A>G (p.M2599V), PKD1L1(NM_138295.5):c.7795A>G (p.M2599V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860841" "0" "50" "7" "47894518" "47894518" "subst" "0.000885747" "01943" "C7orf69_000111" "g.47894518T>A" "" "" "" "PKD1L1(NM_138295.4):c.4821A>T (p.K1607N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860842" "0" "30" "7" "47906069" "47906069" "subst" "0.00606046" "01804" "C7orf69_000112" "g.47906069C>T" "" "" "" "PKD1L1(NM_138295.3):c.4040G>A (p.(Arg1347Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860843" "0" "30" "7" "47942116" "47942116" "subst" "0.00051093" "01943" "C7orf69_000113" "g.47942116G>A" "" "" "" "PKD1L1(NM_138295.3):c.1932-8C>T (p.?), PKD1L1(NM_138295.4):c.1932-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860844" "0" "30" "7" "47944160" "47944160" "subst" "8.12632E-6" "01943" "C7orf69_000114" "g.47944160G>A" "" "" "" "PKD1L1(NM_138295.4):c.1746C>T (p.P582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860845" "0" "30" "7" "47947697" "47947697" "subst" "7.32344E-5" "01943" "C7orf69_000115" "g.47947697G>A" "" "" "" "PKD1L1(NM_138295.4):c.1379C>T (p.A460V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881305" "0" "70" "7" "47892747" "47892747" "subst" "0" "02300" "PKD1L1_000002" "g.47892747A>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.47853149A>C" "" "likely pathogenic" "ACMG" "0000887904" "0" "50" "7" "47915748" "47915748" "subst" "0" "02325" "C7orf69_000117" "g.47915748T>A" "" "" "" "PKD1L1(NM_138295.5):c.3731A>T (p.D1244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887905" "0" "50" "7" "47942013" "47942013" "subst" "8.12427E-6" "02325" "C7orf69_000086" "g.47942013G>A" "" "" "" "PKD1L1(NM_138295.5):c.2027C>T (p.P676L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887906" "0" "50" "7" "47944057" "47944057" "subst" "0.000105625" "02325" "C7orf69_000118" "g.47944057C>T" "" "" "" "PKD1L1(NM_138295.5):c.1849G>A (p.G617S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948920" "0" "50" "7" "47860695" "47860695" "subst" "0" "02326" "C7orf69_000119" "g.47860695G>T" "" "" "" "PKD1L1(NM_138295.5):c.6944C>A (p.A2315D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964609" "0" "30" "7" "47970707" "47970707" "subst" "0.00418834" "02326" "C7orf69_000048" "g.47970707G>A" "" "" "" "PKD1L1(NM_138295.3):c.731C>T (p.(Pro244Leu)), PKD1L1(NM_138295.4):c.731C>T (p.P244L), PKD1L1(NM_138295.5):c.731C>T (p.P244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977729" "0" "50" "7" "47832367" "47832367" "subst" "0.000191513" "01804" "C7orf69_000120" "g.47832367A>T" "" "" "" "PKD1L1(NM_138295.5):c.8384T>A (p.(Leu2795Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977730" "0" "50" "7" "47852858" "47852859" "del" "0" "01804" "C7orf69_000121" "g.47852858_47852859del" "" "" "" "PKD1L1(NM_138295.5):c.7208_7209del (p.(Ser2403TyrfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977731" "0" "10" "7" "47876567" "47876567" "subst" "0.0452123" "01804" "C7orf69_000122" "g.47876567G>A" "" "" "" "PKD1L1(NM_138295.5):c.5895C>T (p.(Cys1965=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977732" "0" "30" "7" "47886522" "47886522" "subst" "0.000692589" "01804" "C7orf69_000060" "g.47886522C>T" "" "" "" "PKD1L1(NM_138295.3):c.5108G>A (p.(Arg1703His)), PKD1L1(NM_138295.4):c.5108G>A (p.R1703H), PKD1L1(NM_138295.5):c.5108G>A (p.R1703H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977733" "0" "50" "7" "47913504" "47913504" "subst" "0.000191791" "01804" "C7orf69_000123" "g.47913504C>T" "" "" "" "PKD1L1(NM_138295.5):c.3889G>A (p.(Glu1297Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977734" "0" "50" "7" "47915814" "47915814" "subst" "0" "01804" "C7orf69_000124" "g.47915814T>C" "" "" "" "PKD1L1(NM_138295.5):c.3665A>G (p.(Asp1222Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977735" "0" "30" "7" "47917126" "47917126" "subst" "0.0011622" "01804" "C7orf69_000033" "g.47917126T>C" "" "" "" "PKD1L1(NM_138295.5):c.3624A>G (p.(Ala1208=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977736" "0" "10" "7" "47925520" "47925520" "subst" "0.0036072" "01804" "C7orf69_000125" "g.47925520C>T" "" "" "" "PKD1L1(NM_138295.5):c.2969G>A (p.(Arg990Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977737" "0" "50" "7" "47925618" "47925618" "subst" "0.000399088" "01804" "C7orf69_000126" "g.47925618C>T" "" "" "" "PKD1L1(NM_138295.5):c.2871G>A (p.(Ser957=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977738" "0" "30" "7" "47925619" "47925619" "subst" "0.00048854" "01804" "C7orf69_000127" "g.47925619G>A" "" "" "" "PKD1L1(NM_138295.5):c.2870C>T (p.(Ser957Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977739" "0" "30" "7" "47930312" "47930312" "subst" "3.25132E-5" "01804" "C7orf69_000128" "g.47930312C>T" "" "" "" "PKD1L1(NM_138295.5):c.2503G>A (p.(Asp835Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977740" "0" "50" "7" "47942106" "47942106" "subst" "0" "01804" "C7orf69_000129" "g.47942106T>C" "" "" "" "PKD1L1(NM_138295.5):c.1934A>G (p.(Glu645Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977741" "0" "30" "7" "47947684" "47947684" "subst" "0.000973706" "01804" "C7orf69_000080" "g.47947684C>T" "" "" "" "PKD1L1(NM_138295.5):c.1392G>A (p.(Val464=), p.V464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977742" "0" "30" "7" "47947836" "47947836" "subst" "0.000540014" "01804" "C7orf69_000130" "g.47947836T>C" "" "" "" "PKD1L1(NM_138295.5):c.1240A>G (p.(Met414Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977743" "0" "30" "7" "47968953" "47968953" "subst" "0.0038698" "01804" "C7orf69_000093" "g.47968953C>T" "" "" "" "PKD1L1(NM_138295.4):c.908G>A (p.R303Q), PKD1L1(NM_138295.5):c.908G>A (p.(Arg303Gln), p.R303Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977744" "0" "30" "7" "47979932" "47979932" "dup" "0" "01804" "C7orf69_000131" "g.47979932dup" "" "" "" "PKD1L1(NM_138295.5):c.161-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996546" "0" "30" "7" "47852885" "47852885" "subst" "0.00201174" "01804" "C7orf69_000132" "g.47852885T>C" "" "" "" "PKD1L1(NM_138295.3):c.7180A>G (p.(Arg2394Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996547" "0" "30" "7" "47874839" "47874839" "subst" "0.00320198" "01804" "C7orf69_000133" "g.47874839G>A" "" "" "" "PKD1L1(NM_138295.3):c.5946C>T (p.(Pro1982Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996548" "0" "30" "7" "47892745" "47892745" "subst" "0.00239613" "01804" "C7orf69_000028" "g.47892745A>G" "" "" "" "PKD1L1(NM_138295.3):c.4940T>C (p.(Ile1647Thr)), PKD1L1(NM_138295.4):c.4940T>C (p.I1647T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996549" "0" "90" "7" "47906070" "47906070" "subst" "3.66107E-5" "01804" "C7orf69_000134" "g.47906070G>A" "" "" "" "PKD1L1(NM_138295.3):c.4039C>T (p.(Arg1347*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000996550" "0" "50" "7" "47906115" "47906115" "subst" "0.000186923" "01804" "C7orf69_000029" "g.47906115G>A" "" "" "" "PKD1L1(NM_138295.3):c.3994C>T (p.(Arg1332Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996551" "0" "30" "7" "47925535" "47925535" "subst" "0.00823707" "01804" "C7orf69_000065" "g.47925535G>A" "" "" "" "PKD1L1(NM_138295.3):c.2954C>T (p.(Thr985Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996552" "0" "50" "7" "47927749" "47927749" "subst" "0" "01804" "C7orf69_000135" "g.47927749C>T" "" "" "" "PKD1L1(NM_138295.3):c.2676-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996553" "0" "30" "7" "47933494" "47933494" "subst" "0.0044378" "01804" "C7orf69_000136" "g.47933494C>T" "" "" "" "PKD1L1(NM_138295.3):c.2434G>A (p.(Asp812Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996554" "0" "30" "7" "47942116" "47942116" "subst" "0.00051093" "01804" "C7orf69_000113" "g.47942116G>A" "" "" "" "PKD1L1(NM_138295.3):c.1932-8C>T (p.?), PKD1L1(NM_138295.4):c.1932-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996555" "0" "30" "7" "47955049" "47955049" "subst" "0" "01804" "C7orf69_000043" "g.47955049A>G" "" "" "" "PKD1L1(NM_138295.3):c.1208T>C (p.(Leu403Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996556" "0" "30" "7" "47971659" "47971659" "subst" "0.00126201" "01804" "C7orf69_000072" "g.47971659T>C" "" "" "" "PKD1L1(NM_138295.3):c.399-6A>G (p.?), PKD1L1(NM_138295.4):c.399-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014361" "0" "50" "7" "47854961" "47854961" "subst" "0.000455499" "02326" "C7orf69_000137" "g.47854961T>C" "" "" "" "PKD1L1(NM_138295.5):c.7060A>G (p.T2354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014362" "0" "90" "7" "47870813" "47870814" "del" "0" "02329" "C7orf69_000138" "g.47870813_47870814del" "" "" "" "PKD1L1(NM_138295.5):c.6473+2_6473+3del, PKD1L1(NM_138295.5):c.6473+2_6473+3delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014363" "0" "50" "7" "47917169" "47917169" "subst" "8.12684E-5" "02326" "C7orf69_000139" "g.47917169C>G" "" "" "" "PKD1L1(NM_138295.5):c.3581G>C (p.R1194P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036397" "0" "30" "7" "47847992" "47847992" "subst" "0" "01804" "C7orf69_000141" "g.47847992C>T" "" "" "" "PKD1L1(NM_138295.5):c.7687-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036398" "0" "30" "7" "47866972" "47866972" "subst" "0.000330485" "01804" "C7orf69_000142" "g.47866972T>C" "" "" "" "PKD1L1(NM_138295.5):c.6830A>G (p.(Glu2277Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036399" "0" "90" "7" "47870813" "47870814" "del" "0" "01804" "C7orf69_000138" "g.47870813_47870814del" "" "" "" "PKD1L1(NM_138295.5):c.6473+2_6473+3del, PKD1L1(NM_138295.5):c.6473+2_6473+3delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001036400" "0" "50" "7" "47870953" "47870953" "subst" "0.000165942" "01804" "C7orf69_000143" "g.47870953G>A" "" "" "" "PKD1L1(NM_138295.5):c.6338-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036401" "0" "30" "7" "47874723" "47874723" "subst" "9.72047E-5" "01804" "C7orf69_000144" "g.47874723G>A" "" "" "" "PKD1L1(NM_138295.5):c.6054+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036402" "0" "50" "7" "47879084" "47879084" "subst" "4.5653E-5" "01804" "C7orf69_000145" "g.47879084C>T" "" "" "" "PKD1L1(NM_138295.5):c.5729G>A (p.(Arg1910Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036403" "0" "50" "7" "47882585" "47882585" "subst" "8.14054E-6" "01804" "C7orf69_000146" "g.47882585C>T" "" "" "" "PKD1L1(NM_138295.5):c.5420G>A (p.(Arg1807Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036404" "0" "50" "7" "47897354" "47897354" "subst" "0" "01804" "C7orf69_000147" "g.47897354G>C" "" "" "" "PKD1L1(NM_138295.5):c.4439C>G (p.(Ser1480Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036405" "0" "30" "7" "47898413" "47898413" "subst" "0" "01804" "C7orf69_000148" "g.47898413C>A" "" "" "" "PKD1L1(NM_138295.5):c.4220G>T (p.(Gly1407Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036406" "0" "30" "7" "47898489" "47898489" "subst" "0.000191455" "01804" "C7orf69_000149" "g.47898489T>C" "" "" "" "PKD1L1(NM_138295.5):c.4150-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036407" "0" "50" "7" "47915787" "47915787" "subst" "8.12427E-6" "01804" "C7orf69_000150" "g.47915787A>C" "" "" "" "PKD1L1(NM_138295.5):c.3692T>G (p.(Ile1231Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036408" "0" "50" "7" "47921579" "47921579" "subst" "0" "01804" "C7orf69_000151" "g.47921579C>G" "" "" "" "PKD1L1(NM_138295.5):c.3370G>C (p.(Glu1124Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036409" "0" "30" "7" "47924233" "47924233" "subst" "0.0160916" "01804" "C7orf69_000064" "g.47924233G>A" "" "" "" "PKD1L1(NM_138295.5):c.3228C>T (p.(Asp1076=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036410" "0" "30" "7" "47925324" "47925324" "subst" "0.000240087" "01804" "C7orf69_000152" "g.47925324C>T" "" "" "" "PKD1L1(NM_138295.5):c.3165G>A (p.(Glu1055=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036411" "0" "50" "7" "47925423" "47925423" "subst" "8.52986E-5" "01804" "C7orf69_000153" "g.47925423C>T" "" "" "" "PKD1L1(NM_138295.5):c.3066G>A (p.(Ala1022=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036412" "0" "30" "7" "47925609" "47925609" "subst" "0.0162322" "01804" "C7orf69_000066" "g.47925609G>A" "" "" "" "PKD1L1(NM_138295.5):c.2880C>T (p.(Leu960=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036413" "0" "30" "7" "47927650" "47927650" "subst" "0.01781" "01804" "C7orf69_000154" "g.47927650G>A" "" "" "" "PKD1L1(NM_138295.5):c.2774C>T (p.(Pro925Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036414" "0" "50" "7" "47927663" "47927663" "subst" "9.34086E-5" "01804" "C7orf69_000155" "g.47927663A>G" "" "" "" "PKD1L1(NM_138295.5):c.2761T>C (p.(Cys921Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036415" "0" "30" "7" "47930148" "47930148" "subst" "0.0215722" "01804" "C7orf69_000156" "g.47930148C>T" "" "" "" "PKD1L1(NM_138295.5):c.2667G>A (p.(Ser889=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036416" "0" "30" "7" "47930277" "47930277" "subst" "0.0161973" "01804" "C7orf69_000157" "g.47930277A>T" "" "" "" "PKD1L1(NM_138295.5):c.2538T>A (p.(Ala846=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036417" "0" "30" "7" "47930280" "47930280" "subst" "0.014277" "01804" "C7orf69_000158" "g.47930280C>T" "" "" "" "PKD1L1(NM_138295.5):c.2535G>A (p.(Ala845=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036418" "0" "50" "7" "47942056" "47942056" "subst" "0" "01804" "C7orf69_000159" "g.47942056T>A" "" "" "" "PKD1L1(NM_138295.5):c.1984A>T (p.(Thr662Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036419" "0" "30" "7" "47944920" "47944920" "subst" "4.8992E-5" "01804" "C7orf69_000160" "g.47944920C>T" "" "" "" "PKD1L1(NM_138295.5):c.1525G>A (p.(Val509Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036420" "0" "30" "7" "47944921" "47944921" "subst" "2.44876E-5" "01804" "C7orf69_000161" "g.47944921G>A" "" "" "" "PKD1L1(NM_138295.5):c.1524C>T (p.(Ser508=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036421" "0" "30" "7" "47945489" "47945489" "subst" "0.000280572" "01804" "C7orf69_000162" "g.47945489C>T" "" "" "" "PKD1L1(NM_138295.5):c.1473G>A (p.(Val491=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036422" "0" "30" "7" "47987985" "47987985" "subst" "0.00200647" "01804" "C7orf69_000163" "g.47987985A>C" "" "" "" "PKD1L1(NM_138295.5):c.44+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052676" "0" "30" "7" "47847885" "47847885" "subst" "0.000276144" "01804" "C7orf69_000009" "g.47847885C>A" "" "" "" "PKD1L1(NM_138295.5):c.7787G>T (p.(Arg2596Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052677" "0" "30" "7" "47894496" "47894496" "subst" "0.000125956" "01804" "C7orf69_000164" "g.47894496C>T" "" "" "" "PKD1L1(NM_138295.5):c.4843G>A (p.(Val1615Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052678" "0" "50" "7" "47920346" "47920346" "subst" "0" "01804" "C7orf69_000165" "g.47920346T>C" "" "" "" "PKD1L1(NM_138295.5):c.3500A>G (p.(Tyr1167Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058011" "1" "70" "7" "47944920" "47944920" "subst" "4.8992E-5" "00006" "C7orf69_000160" "g.47944920C>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.47905323C>T" "" "likely pathogenic (!)" "" ## 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 PKD1L1 ## Count = 191 "{{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}}" "0000331565" "00016232" "50" "8135" "0" "8135" "0" "c.8135C>T" "r.(?)" "p.(Ala2712Val)" "" "0000331566" "00016232" "50" "3157" "0" "3157" "0" "c.3157C>T" "r.(?)" "p.(Arg1053Cys)" "" "0000532111" "00016232" "30" "8133" "0" "8133" "0" "c.8133G>T" "r.(?)" "p.(Arg2711=)" "" "0000532113" "00016232" "30" "8130" "0" "8130" "0" "c.8130G>C" "r.(?)" "p.(Gln2710His)" "" "0000532114" "00016232" "30" "7987" "0" "7987" "0" "c.7987G>A" "r.(?)" "p.(Ala2663Thr)" "" "0000532116" "00016232" "30" "7827" "6" "7827" "6" "c.7827+6C>T" "r.(=)" "p.(=)" "" "0000532118" "00016232" "30" "7787" "0" "7787" "0" "c.7787G>T" "r.(?)" "p.(Arg2596Leu)" "" "0000532119" "00016232" "50" "7135" "0" "7135" "0" "c.7135A>G" "r.(?)" "p.(Ile2379Val)" "" "0000532120" "00016232" "10" "7080" "0" "7080" "0" "c.7080G>A" "r.(?)" "p.(Pro2360=)" "" "0000532121" "00016232" "10" "7072" "0" "7072" "0" "c.7072C>T" "r.(?)" "p.(Arg2358Cys)" "" "0000532122" "00016232" "30" "6949" "0" "6949" "0" "c.6949C>T" "r.(?)" "p.(Arg2317Trp)" "" "0000532123" "00016232" "10" "6949" "0" "6949" "0" "c.6949C>T" "r.(?)" "p.(Arg2317Trp)" "" "0000532124" "00016232" "30" "6762" "0" "6762" "0" "c.6762C>G" "r.(?)" "p.(Arg2254=)" "" "0000532125" "00016232" "30" "6736" "-3" "6736" "-3" "c.6736-3C>T" "r.spl?" "p.?" "" "0000532129" "00016232" "50" "5822" "0" "5822" "0" "c.5822C>T" "r.(?)" "p.(Ser1941Leu)" "" "0000532130" "00016232" "30" "5728" "0" "5728" "0" "c.5728C>T" "r.(?)" "p.(Arg1910Trp)" "" "0000532131" "00016232" "50" "5663" "0" "5663" "0" "c.5663G>A" "r.(?)" "p.(Gly1888Glu)" "" "0000532132" "00016232" "30" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Asp1823Asn)" "" "0000532133" "00016232" "50" "5464" "0" "5464" "0" "c.5464G>A" "r.(?)" "p.(Gly1822Ser)" "" "0000532134" "00016232" "50" "5397" "0" "5397" "0" "c.5397G>A" "r.(?)" "p.(Ala1799=)" "" "0000532135" "00016232" "30" "5212" "0" "5212" "0" "c.5212G>A" "r.(?)" "p.(Val1738Met)" "" "0000532136" "00016232" "30" "5167" "0" "5167" "0" "c.5167G>A" "r.(?)" "p.(Ala1723Thr)" "" "0000532139" "00016232" "50" "4940" "0" "4940" "0" "c.4940T>C" "r.(?)" "p.(Ile1647Thr)" "" "0000532141" "00016232" "30" "3845" "0" "3845" "0" "c.3845T>A" "r.(?)" "p.(Val1282Glu)" "" "0000532142" "00016232" "30" "3845" "0" "3845" "0" "c.3845T>A" "r.(?)" "p.(Val1282Glu)" "" "0000532143" "00016232" "30" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(Tyr1229=)" "" "0000532144" "00016232" "30" "3630" "0" "3630" "0" "c.3630C>A" "r.(?)" "p.(Thr1210=)" "" "0000532145" "00016232" "10" "3624" "0" "3624" "0" "c.3624A>G" "r.(?)" "p.(Ala1208=)" "" "0000532146" "00016232" "30" "3377" "0" "3377" "0" "c.3377T>G" "r.(?)" "p.(Val1126Gly)" "" "0000532147" "00016232" "30" "3004" "0" "3004" "0" "c.3004A>C" "r.(?)" "p.(Thr1002Pro)" "" "0000532148" "00016232" "10" "2982" "0" "2982" "0" "c.2982C>T" "r.(?)" "p.(Pro994=)" "" "0000532149" "00016232" "30" "2979" "0" "2979" "0" "c.2979A>T" "r.(?)" "p.(Ser993=)" "" "0000532150" "00016232" "30" "2881" "0" "2881" "0" "c.2881G>A" "r.(?)" "p.(Gly961Ser)" "" "0000532151" "00016232" "50" "2780" "0" "2780" "0" "c.2780T>C" "r.(?)" "p.(Leu927Pro)" "" "0000532152" "00016232" "10" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Val894Ile)" "" "0000532153" "00016232" "30" "2635" "0" "2635" "0" "c.2635A>G" "r.(?)" "p.(Thr879Ala)" "" "0000532154" "00016232" "50" "2276" "0" "2276" "0" "c.2276A>T" "r.(?)" "p.(Gln759Leu)" "" "0000532155" "00016232" "10" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Leu403Pro)" "" "0000532156" "00016232" "30" "1031" "0" "1031" "0" "c.1031C>T" "r.(?)" "p.(Ala344Val)" "" "0000532157" "00016232" "50" "933" "0" "933" "0" "c.933T>C" "r.(?)" "p.(Arg311=)" "" "0000532159" "00016232" "30" "737" "5" "737" "5" "c.737+5G>A" "r.spl?" "p.?" "" "0000532160" "00016232" "30" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Pro244Leu)" "" "0000611095" "00016232" "30" "8104" "0" "8104" "0" "c.8104C>T" "r.(?)" "p.(Leu2702Phe)" "" "0000611096" "00016232" "30" "7806" "0" "7806" "0" "c.7806C>G" "r.(?)" "p.(Thr2602=)" "" "0000611097" "00016232" "30" "7795" "0" "7795" "0" "c.7795A>G" "r.(?)" "p.(Met2599Val)" "" "0000611098" "00016232" "50" "7721" "0" "7721" "0" "c.7721C>A" "r.(?)" "p.(Ala2574Glu)" "" "0000611099" "00016232" "50" "6337" "1" "6337" "1" "c.6337+1G>A" "r.spl?" "p.?" "" "0000611100" "00016232" "30" "6225" "0" "6225" "0" "c.6225G>A" "r.(?)" "p.(Ala2075=)" "" "0000611101" "00016232" "30" "6113" "0" "6113" "0" "c.6113C>G" "r.(?)" "p.(Thr2038Ser)" "" "0000611102" "00016232" "30" "5955" "0" "5955" "0" "c.5955C>T" "r.(?)" "p.(Asp1985=)" "" "0000611103" "00016232" "50" "5792" "0" "5793" "0" "c.5792_5793delinsCAT" "r.(?)" "p.(Glu1931AlafsTer103)" "" "0000611104" "00016232" "30" "5703" "0" "5703" "0" "c.5703C>T" "r.(?)" "p.(Ala1901=)" "" "0000611105" "00016232" "10" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Asp1823Asn)" "" "0000611106" "00016232" "30" "5196" "0" "5196" "0" "c.5196G>A" "r.(?)" "p.(Leu1732=)" "" "0000611107" "00016232" "30" "5108" "0" "5108" "0" "c.5108G>A" "r.(?)" "p.(Arg1703His)" "" "0000611108" "00016232" "30" "3739" "0" "3739" "0" "c.3739T>G" "r.(?)" "p.(Tyr1247Asp)" "" "0000611109" "00016232" "70" "3412" "0" "3412" "0" "c.3412C>T" "r.(?)" "p.(Arg1138Ter)" "" "0000611110" "00016232" "10" "3228" "0" "3228" "0" "c.3228C>T" "r.(?)" "p.(Asp1076=)" "" "0000611111" "00016232" "10" "3004" "0" "3004" "0" "c.3004A>C" "r.(?)" "p.(Thr1002Pro)" "" "0000611112" "00016232" "30" "2954" "0" "2954" "0" "c.2954C>T" "r.(?)" "p.(Thr985Ile)" "" "0000611113" "00016232" "10" "2880" "0" "2880" "0" "c.2880C>T" "r.(?)" "p.(Leu960=)" "" "0000611114" "00016232" "30" "2675" "4" "2675" "4" "c.2675+4C>T" "r.spl?" "p.?" "" "0000611115" "00016232" "30" "2454" "-18" "2454" "-18" "c.2454-18C>G" "r.(=)" "p.(=)" "" "0000611116" "00016232" "30" "1696" "0" "1696" "0" "c.1696C>T" "r.(?)" "p.(Arg566Cys)" "" "0000611117" "00016232" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Thr469Ile)" "" "0000611118" "00016232" "30" "1031" "0" "1031" "0" "c.1031C>T" "r.(?)" "p.(Ala344Val)" "" "0000611119" "00016232" "50" "519" "5" "519" "5" "c.519+5G>A" "r.spl?" "p.?" "" "0000611120" "00016232" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "" "0000611121" "00016232" "30" "7" "0" "7" "0" "c.7G>A" "r.(?)" "p.(Glu3Lys)" "" "0000621892" "00016232" "50" "5381" "0" "5381" "0" "c.5381G>T" "r.(?)" "p.(Gly1794Val)" "" "0000621893" "00016232" "30" "3622" "0" "3622" "0" "c.3622G>A" "r.(?)" "p.(Ala1208Thr)" "" "0000621894" "00016232" "30" "399" "-6" "399" "-6" "c.399-6A>G" "r.(=)" "p.(=)" "" "0000655838" "00016232" "50" "7124" "0" "7124" "0" "c.7124G>A" "r.(?)" "p.(Gly2375Asp)" "" "0000655839" "00016232" "30" "6736" "-3" "6736" "-3" "c.6736-3C>T" "r.spl?" "p.?" "" "0000655840" "00016232" "30" "5728" "0" "5728" "0" "c.5728C>T" "r.(?)" "p.(Arg1910Trp)" "" "0000655842" "00016232" "50" "5366" "0" "5366" "0" "c.5366A>G" "r.(?)" "p.(Glu1789Gly)" "" "0000655843" "00016232" "30" "2979" "0" "2979" "0" "c.2979A>T" "r.(?)" "p.(Ser993=)" "" "0000655844" "00016232" "30" "2836" "8" "2836" "8" "c.2836+8G>T" "r.(=)" "p.(=)" "" "0000655845" "00016232" "10" "2675" "4" "2675" "4" "c.2675+4C>T" "r.spl?" "p.?" "" "0000655846" "00016232" "30" "2502" "0" "2502" "0" "c.2502C>T" "r.(?)" "p.(Phe834=)" "" "0000655847" "00016232" "10" "2220" "0" "2220" "0" "c.2220C>T" "r.(?)" "p.(Leu740=)" "" "0000655848" "00016232" "10" "1392" "0" "1392" "0" "c.1392G>A" "r.(?)" "p.(Val464=)" "" "0000655849" "00016232" "30" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Pro244Leu)" "" "0000678112" "00016232" "50" "5728" "0" "5728" "0" "c.5728C>T" "r.(?)" "p.(Arg1910Trp)" "" "0000678113" "00016232" "30" "5386" "0" "5386" "0" "c.5386C>A" "r.(?)" "p.(Gln1796Lys)" "" "0000678114" "00016232" "10" "5237" "10" "5237" "10" "c.5237+10A>T" "r.(=)" "p.(=)" "" "0000678115" "00016232" "50" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Ala1503Val)" "" "0000678116" "00016232" "30" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(Leu1419=)" "" "0000678117" "00016232" "30" "3031" "0" "3031" "0" "c.3031G>A" "r.(?)" "p.(Glu1011Lys)" "" "0000678118" "00016232" "50" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Pro676Leu)" "" "0000678119" "00016232" "10" "1011" "0" "1011" "0" "c.1011C>G" "r.(?)" "p.(His337Gln)" "" "0000690012" "00016232" "30" "8405" "0" "8405" "0" "c.8405A>G" "r.(?)" "p.(Lys2802Arg)" "" "0000690013" "00016232" "50" "7418" "0" "7418" "0" "c.7418C>T" "r.(?)" "p.(Ser2473Phe)" "" "0000690014" "00016232" "30" "4782" "0" "4782" "0" "c.4782C>T" "r.(?)" "p.(Asn1594=)" "" "0000690015" "00016232" "30" "2621" "0" "2621" "0" "c.2621G>A" "r.(?)" "p.(Arg874Gln)" "" "0000690016" "00016232" "30" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776Gln)" "" "0000690017" "00016232" "30" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303Gln)" "" "0000721469" "00016232" "30" "7541" "0" "7541" "0" "c.7541G>A" "r.(?)" "p.(Arg2514His)" "" "0000721470" "00016232" "30" "7541" "0" "7541" "0" "c.7541G>A" "r.(?)" "p.(Arg2514His)" "" "0000721471" "00016232" "50" "7415" "0" "7415" "0" "c.7415T>C" "r.(?)" "p.(Val2472Ala)" "" "0000721472" "00016232" "30" "6961" "0" "6961" "0" "c.6961A>T" "r.(?)" "p.(Thr2321Ser)" "" "0000721473" "00016232" "50" "5866" "0" "5866" "0" "c.5866C>T" "r.(?)" "p.(Arg1956Cys)" "" "0000721474" "00016232" "30" "5467" "0" "5467" "0" "c.5467G>A" "r.(?)" "p.(Asp1823Asn)" "" "0000721475" "00016232" "30" "4998" "0" "4998" "0" "c.4998C>T" "r.(?)" "p.(Asp1666=)" "" "0000721476" "00016232" "30" "3896" "18" "3896" "18" "c.3896+18del" "r.(=)" "p.(=)" "" "0000721477" "00016232" "70" "3499" "0" "3500" "0" "c.3499_3500insG" "r.(?)" "p.(Tyr1167*)" "" "0000721478" "00016232" "30" "1589" "0" "1589" "0" "c.1589C>G" "r.(?)" "p.(Thr530Ser)" "" "0000721479" "00016232" "30" "1523" "-4" "1523" "-4" "c.1523-4A>G" "r.spl?" "p.?" "" "0000803162" "00016232" "30" "7052" "0" "7052" "0" "c.7052C>T" "r.(?)" "p.(Pro2351Leu)" "" "0000803163" "00016232" "50" "5147" "0" "5147" "0" "c.5147A>G" "r.(?)" "p.(Asn1716Ser)" "" "0000803164" "00016232" "30" "5108" "0" "5108" "0" "c.5108G>A" "r.(?)" "p.(Arg1703His)" "" "0000803165" "00016232" "30" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Gly1108Glu)" "" "0000803166" "00016232" "30" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Arg1053His)" "" "0000803167" "00016232" "30" "2453" "3" "2453" "3" "c.2453+3G>A" "r.spl?" "p.?" "" "0000803168" "00016232" "30" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Leu536=)" "" "0000803169" "00016232" "10" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303Gln)" "" "0000803170" "00016232" "30" "144" "0" "144" "0" "c.144A>C" "r.(?)" "p.(Gly48=)" "" "0000851625" "00016232" "30" "5865" "0" "5865" "0" "c.5865G>A" "r.(?)" "p.(Pro1955=)" "" "0000851626" "00016232" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Val332Ile)" "" "0000860840" "00016232" "30" "7795" "0" "7795" "0" "c.7795A>G" "r.(?)" "p.(Met2599Val)" "" "0000860841" "00016232" "50" "4821" "0" "4821" "0" "c.4821A>T" "r.(?)" "p.(Lys1607Asn)" "" "0000860842" "00016232" "30" "4040" "0" "4040" "0" "c.4040G>A" "r.(?)" "p.(Arg1347Gln)" "" "0000860843" "00016232" "30" "1932" "-8" "1932" "-8" "c.1932-8C>T" "r.(=)" "p.(=)" "" "0000860844" "00016232" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Pro582=)" "" "0000860845" "00016232" "30" "1379" "0" "1379" "0" "c.1379C>T" "r.(?)" "p.(Ala460Val)" "" "0000881305" "00016232" "70" "4938" "0" "4938" "0" "c.4938T>G" "r.(?)" "p.(Tyr1646Ter)" "" "0000887904" "00016232" "50" "3731" "0" "3731" "0" "c.3731A>T" "r.(?)" "p.(Asp1244Val)" "" "0000887905" "00016232" "50" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Pro676Leu)" "" "0000887906" "00016232" "50" "1849" "0" "1849" "0" "c.1849G>A" "r.(?)" "p.(Gly617Ser)" "" "0000948920" "00016232" "50" "6944" "0" "6944" "0" "c.6944C>A" "r.(?)" "p.(Ala2315Asp)" "" "0000964609" "00016232" "30" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Pro244Leu)" "" "0000977729" "00016232" "50" "8384" "0" "8384" "0" "c.8384T>A" "r.(?)" "p.(Leu2795Gln)" "" "0000977730" "00016232" "50" "7208" "0" "7209" "0" "c.7208_7209del" "r.(?)" "p.(Ser2403Tyrfs*5)" "" "0000977731" "00016232" "10" "5895" "0" "5895" "0" "c.5895C>T" "r.(?)" "p.(=)" "" "0000977732" "00016232" "30" "5108" "0" "5108" "0" "c.5108G>A" "r.(?)" "p.(Arg1703His)" "" "0000977733" "00016232" "50" "3889" "0" "3889" "0" "c.3889G>A" "r.(?)" "p.(Glu1297Lys)" "" "0000977734" "00016232" "50" "3665" "0" "3665" "0" "c.3665A>G" "r.(?)" "p.(Asp1222Gly)" "" "0000977735" "00016232" "30" "3624" "0" "3624" "0" "c.3624A>G" "r.(?)" "p.(Ala1208=)" "" "0000977736" "00016232" "10" "2969" "0" "2969" "0" "c.2969G>A" "r.(?)" "p.(Arg990Gln)" "" "0000977737" "00016232" "50" "2871" "0" "2871" "0" "c.2871G>A" "r.(?)" "p.(=)" "" "0000977738" "00016232" "30" "2870" "0" "2870" "0" "c.2870C>T" "r.(?)" "p.(Ser957Leu)" "" "0000977739" "00016232" "30" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(Asp835Asn)" "" "0000977740" "00016232" "50" "1934" "0" "1934" "0" "c.1934A>G" "r.(?)" "p.(Glu645Gly)" "" "0000977741" "00016232" "30" "1392" "0" "1392" "0" "c.1392G>A" "r.(?)" "p.(Val464=)" "" "0000977742" "00016232" "30" "1240" "0" "1240" "0" "c.1240A>G" "r.(?)" "p.(Met414Val)" "" "0000977743" "00016232" "30" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303Gln)" "" "0000977744" "00016232" "30" "161" "-7" "161" "-7" "c.161-7dup" "r.(=)" "p.(=)" "" "0000996546" "00016232" "30" "7180" "0" "7180" "0" "c.7180A>G" "r.(?)" "p.(Arg2394Gly)" "" "0000996547" "00016232" "30" "5946" "0" "5946" "0" "c.5946C>T" "r.(?)" "p.(=)" "" "0000996548" "00016232" "30" "4940" "0" "4940" "0" "c.4940T>C" "r.(?)" "p.(Ile1647Thr)" "" "0000996549" "00016232" "90" "4039" "0" "4039" "0" "c.4039C>T" "r.(?)" "p.(Arg1347*)" "" "0000996550" "00016232" "50" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Arg1332Cys)" "" "0000996551" "00016232" "30" "2954" "0" "2954" "0" "c.2954C>T" "r.(?)" "p.(Thr985Ile)" "" "0000996552" "00016232" "50" "2676" "-1" "2676" "-1" "c.2676-1G>A" "r.spl?" "p.?" "" "0000996553" "00016232" "30" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" "" "0000996554" "00016232" "30" "1932" "-8" "1932" "-8" "c.1932-8C>T" "r.(=)" "p.(=)" "" "0000996555" "00016232" "30" "1208" "0" "1208" "0" "c.1208T>C" "r.(?)" "p.(Leu403Pro)" "" "0000996556" "00016232" "30" "399" "-6" "399" "-6" "c.399-6A>G" "r.(=)" "p.(=)" "" "0001014361" "00016232" "50" "7060" "0" "7060" "0" "c.7060A>G" "r.(?)" "p.(Thr2354Ala)" "" "0001014362" "00016232" "90" "6473" "2" "6473" "3" "c.6473+2_6473+3del" "r.spl?" "p.?" "" "0001014363" "00016232" "50" "3581" "0" "3581" "0" "c.3581G>C" "r.(?)" "p.(Arg1194Pro)" "" "0001036397" "00016232" "30" "7687" "-7" "7687" "-7" "c.7687-7G>A" "r.(=)" "p.(=)" "" "0001036398" "00016232" "30" "6830" "0" "6830" "0" "c.6830A>G" "r.(?)" "p.(Glu2277Gly)" "" "0001036399" "00016232" "90" "6473" "2" "6473" "3" "c.6473+2_6473+3del" "r.spl?" "p.?" "" "0001036400" "00016232" "50" "6338" "-3" "6338" "-3" "c.6338-3C>T" "r.spl?" "p.?" "" "0001036401" "00016232" "30" "6054" "8" "6054" "8" "c.6054+8C>T" "r.(=)" "p.(=)" "" "0001036402" "00016232" "50" "5729" "0" "5729" "0" "c.5729G>A" "r.(?)" "p.(Arg1910Gln)" "" "0001036403" "00016232" "50" "5420" "0" "5420" "0" "c.5420G>A" "r.(?)" "p.(Arg1807Gln)" "" "0001036404" "00016232" "50" "4439" "0" "4439" "0" "c.4439C>G" "r.(?)" "p.(Ser1480Cys)" "" "0001036405" "00016232" "30" "4220" "0" "4220" "0" "c.4220G>T" "r.(?)" "p.(Gly1407Val)" "" "0001036406" "00016232" "30" "4150" "-6" "4150" "-6" "c.4150-6A>G" "r.(=)" "p.(=)" "" "0001036407" "00016232" "50" "3692" "0" "3692" "0" "c.3692T>G" "r.(?)" "p.(Ile1231Arg)" "" "0001036408" "00016232" "50" "3370" "0" "3370" "0" "c.3370G>C" "r.(?)" "p.(Glu1124Gln)" "" "0001036409" "00016232" "30" "3228" "0" "3228" "0" "c.3228C>T" "r.(?)" "p.(Asp1076=)" "" "0001036410" "00016232" "30" "3165" "0" "3165" "0" "c.3165G>A" "r.(?)" "p.(=)" "" "0001036411" "00016232" "50" "3066" "0" "3066" "0" "c.3066G>A" "r.(?)" "p.(=)" "" "0001036412" "00016232" "30" "2880" "0" "2880" "0" "c.2880C>T" "r.(?)" "p.(Leu960=)" "" "0001036413" "00016232" "30" "2774" "0" "2774" "0" "c.2774C>T" "r.(?)" "p.(Pro925Leu)" "" "0001036414" "00016232" "50" "2761" "0" "2761" "0" "c.2761T>C" "r.(?)" "p.(Cys921Arg)" "" "0001036415" "00016232" "30" "2667" "0" "2667" "0" "c.2667G>A" "r.(?)" "p.(=)" "" "0001036416" "00016232" "30" "2538" "0" "2538" "0" "c.2538T>A" "r.(?)" "p.(=)" "" "0001036417" "00016232" "30" "2535" "0" "2535" "0" "c.2535G>A" "r.(?)" "p.(=)" "" "0001036418" "00016232" "50" "1984" "0" "1984" "0" "c.1984A>T" "r.(?)" "p.(Thr662Ser)" "" "0001036419" "00016232" "30" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Val509Ile)" "" "0001036420" "00016232" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(=)" "" "0001036421" "00016232" "30" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(=)" "" "0001036422" "00016232" "30" "44" "9" "44" "9" "c.44+9T>G" "r.(=)" "p.(=)" "" "0001052676" "00016232" "30" "7787" "0" "7787" "0" "c.7787G>T" "r.(?)" "p.(Arg2596Leu)" "" "0001052677" "00016232" "30" "4843" "0" "4843" "0" "c.4843G>A" "r.(?)" "p.(Val1615Ile)" "" "0001052678" "00016232" "50" "3500" "0" "3500" "0" "c.3500A>G" "r.(?)" "p.(Tyr1167Cys)" "" "0001058011" "00016232" "70" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Val509Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000420946" "0000881305" "0000469935" "0001058011"