### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS13C) # 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}}" "VPS13C" "vacuolar protein sorting 13 homolog C (S. cerevisiae)" "15" "q21.3" "unknown" "NG_027782.1" "UD_132118391011" "" "http://www.LOVD.nl/VPS13C" "" "1" "23594" "54832" "608879" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/VPS13C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-11 21:48:10" "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}}" "00024178" "VPS13C" "transcript variant 2A" "002" "NM_020821.2" "" "NP_065872.1" "" "" "" "-91" "13330" "11262" "62352664" "62144588" "00006" "2016-10-11 21:04:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "05197" "PARK23" "Parkinson disease, type 23, autosomal recessive, early onset (PARK-23)" "AR" "616840" "brain" "" "" "00006" "2016-10-11 21:03:02" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VPS13C" "05197" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00065163" "" "" "" "1" "" "01606" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" ">54y" "0" "" "" "" "26942284-FamA-PatV2" "00065167" "" "" "" "1" "" "01606" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "no" "France" "49y" "0" "" "" "" "26942284-FamBPatII1" "00065171" "" "" "" "1" "" "01606" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "2-generation family, 1 affected, unaffected non-carrier mother (father deceased)" "F" "no" "France" ">25y" "0" "" "" "" "26942284 II-1- Family C" "00164366" "" "" "" "1" "" "00080" "" "" "F" "yes" "Iran" "" "0" "" "" "" "II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00065163" "00414" "00065167" "00414" "00065171" "00414" "00164366" "05197" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00414, 05197 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061022" "00414" "00065163" "01606" "Familial, autosomal recessive" "54y" "depression (HP:0000716), asymmetric akinetic rigid syndrome, no dystonia (-HP:0007325), no dyskinesia (-HP:0100660), early mental deterioration (HP:0001268), spatial disorientation (HP:0001289), slurred speech (HP:0001350), hallucinations (HP:0000738), dysautonomia (HP:0002459), urinary incontinence (HP:0000020), loss of speech (HP:0002371), Apathy (HP:0000741), Dysphagia (HP:0002015), Cachexia (HP:0004326), hyperactive deep tendon reflexes (HP:0006801), no pyramidal syndrome (-HP:0002071), asymmetric atrophy in frontal, parietal and temporal areas at expense of left side (HP:0002283)" "<46y" "" "" "" "" "" "" "" "" "0000061023" "00414" "00065167" "01606" "Familial, autosomal recessive" "" "asymetric akineto rigid syndrome, Resting tremor (HP:0002322), limb dystonia (HP:0002451), dyskinesia (HP:0100660), mental deterioration (HP:0001268), dysautonomia (HP:0002459), pyramidal syndrome (HP:0002071), limb atrophy (HP:0007126); death due to aspiration pneumonia (HP:0011951)" "" "33y" "" "" "" "" "" "" "" "0000061024" "00414" "00065171" "01606" "Familial, autosomal recessive" "25y" "asymetric akineto rigid syndrome, limb dystonia (HP:0002451), no dyskinesia (HP:0100660), mental deterioration (HP:0001268), slurred speech (HP:0001350), spastic tetraplegia (HP:0002510), normal MRI" "25y" "" "" "" "" "" "" "" "" "0000129501" "05197" "00164366" "00080" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "PARK-23" "Parkinson disease" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065316" "00065163" "1" "01606" "01606" "2016-05-20 12:40:30" "00006" "2016-10-11 21:43:27" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000065320" "00065167" "1" "01606" "01606" "2016-05-20 13:59:43" "" "" "SEQ" "DNA" "" "" "0000065325" "00065171" "1" "01606" "01606" "2016-05-20 14:21:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000165233" "00164366" "1" "00080" "00080" "2018-05-15 22:35:53" "" "" "SEQ-NG-I" "DNA" "Whole blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000065316" "VPS13C" "0000065320" "VPS13C" "0000065325" "VPS13C" ## 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 = 152 "{{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}}" "0000096996" "3" "90" "15" "62207830" "62207830" "subst" "0" "01606" "VPS13C_000001" "g.62207830A>C" "" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "" "NM_020821.2:c.8445+2T>G" "VPS13C transcript (3 shorter bands) strongly reduced, not visible in heterozygous cases" "Germline" "yes" "" "0" "" "" "g.61915631A>C" "" "pathogenic" "" "0000096997" "2" "90" "15" "62305256" "62305257" "ins" "0" "01606" "VPS13C_000004" "g.62305256_62305257insTCTG" "" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "" "" "variant maybe c.802_805dupCAGA?" "Germline" "yes" "" "0" "" "" "g.62013057_62013058insTCTG" "" "pathogenic" "" "0000096999" "1" "90" "15" "62174851" "62174851" "subst" "0" "01606" "VPS13C_000005" "g.62174851C>A" "" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.61882652C>A" "" "pathogenic" "" "0000097004" "21" "90" "15" "62250807" "62250807" "subst" "4.6903E-6" "01606" "VPS13C_000003" "g.62250807C>G" "" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.61958608C>G" "" "pathogenic" "" "0000097005" "2" "90" "15" "62239493" "62239493" "del" "0" "01606" "VPS13C_000002" "g.62239493del" "" "{PMID:Lesage 2016:26942284}, {DOI:Lesage 2016:10.1016/j.ajhg.2016.01.014}" "" "" "" "Germline" "?" "" "0" "" "" "g.61947294del" "" "pathogenic" "" "0000255298" "0" "30" "15" "62237904" "62237904" "subst" "0.000173044" "01943" "VPS13C_000014" "g.62237904A>T" "" "" "" "VPS13C(NM_001018088.2):c.5148+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61945705A>T" "" "likely benign" "" "0000319727" "0" "30" "15" "62170919" "62170919" "subst" "0.00021576" "01943" "VPS13C_000008" "g.62170919G>A" "" "" "" "VPS13C(NM_001018088.2):c.10029C>T (p.S3343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61878720G>A" "" "likely benign" "" "0000319728" "0" "50" "15" "62170918" "62170918" "subst" "8.28027E-5" "01943" "VPS13C_000007" "g.62170918C>T" "" "" "" "VPS13C(NM_001018088.2):c.10030G>A (p.G3344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61878719C>T" "" "VUS" "" "0000319729" "0" "90" "15" "62283295" "62283295" "subst" "0.00177793" "01943" "VPS13C_000019" "g.62283295T>C" "" "" "" "VPS13C(NM_001018088.2):c.1484-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61991096T>C" "" "pathogenic" "" "0000319730" "0" "30" "15" "62270844" "62270844" "subst" "0" "01943" "VPS13C_000018" "g.62270844T>C" "" "" "" "VPS13C(NM_001018088.2):c.2271A>G (p.Q757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61978645T>C" "" "likely benign" "" "0000319731" "0" "30" "15" "62261612" "62261612" "subst" "0.00334686" "01943" "VPS13C_000017" "g.62261612T>C" "" "" "" "VPS13C(NM_001018088.2):c.2797A>G (p.T933A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61969413T>C" "" "likely benign" "" "0000319732" "0" "50" "15" "62261520" "62261520" "subst" "0" "01943" "VPS13C_000016" "g.62261520G>C" "" "" "" "VPS13C(NM_001018088.2):c.2889C>G (p.S963R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61969321G>C" "" "VUS" "" "0000319733" "0" "50" "15" "62253983" "62253983" "subst" "4.47496E-5" "01943" "VPS13C_000015" "g.62253983C>T" "" "" "" "VPS13C(NM_001018088.2):c.3713G>A (p.R1238H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61961784C>T" "" "VUS" "" "0000319734" "0" "50" "15" "62210451" "62210451" "subst" "0" "01943" "VPS13C_000013" "g.62210451T>G" "" "" "" "VPS13C(NM_001018088.2):c.7644A>C (p.K2548N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61918252T>G" "" "VUS" "" "0000319735" "0" "50" "15" "62176399" "62176400" "del" "0" "01943" "VPS13C_000011" "g.62176399_62176400del" "" "" "" "VPS13C(NM_001018088.2):c.9411_9412delAT (p.L3137Ffs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61884200_61884201del" "" "VUS" "" "0000319736" "0" "30" "15" "62174893" "62174893" "subst" "0.00189109" "01943" "VPS13C_000010" "g.62174893G>C" "" "" "" "VPS13C(NM_001018088.2):c.9526C>G (p.R3176G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61882694G>C" "" "likely benign" "" "0000319737" "0" "50" "15" "62174824" "62174824" "subst" "0.000148726" "01943" "VPS13C_000009" "g.62174824T>C" "" "" "" "VPS13C(NM_001018088.2):c.9595A>G (p.S3199G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61882625T>C" "" "VUS" "" "0000324142" "0" "50" "15" "62170863" "62170863" "subst" "8.1708E-6" "01804" "VPS13C_000006" "g.62170863T>C" "" "" "" "VPS13C(NM_001018088.2):c.10085A>G (p.(Asn3362Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61878664T>C" "" "VUS" "" "0000324143" "0" "50" "15" "62207924" "62207924" "subst" "0.00295461" "01804" "VPS13C_000012" "g.62207924G>A" "" "" "" "VPS13C(NM_001018088.2):c.8353C>T (p.(Arg2785Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61915725G>A" "" "VUS" "" "0000368891" "3" "70" "15" "62189609" "62289207" "del" "0" "00080" "VPS13C_000020" "g.62189609_62289207delinsGCACTTC" "" "" "" "NG_027782.1:g.68460_168056del" "deletion on chr15: 162,451,090_162,579,220, deletion includes a 7bp GCACTTC insertion between the deletion breakpoints" "Germline" "yes" "" "0" "" "" "g.61897410_61997008delinsGCACTTC" "" "likely pathogenic" "" "0000554961" "0" "30" "15" "62146742" "62146742" "subst" "0.00397352" "01804" "VPS13C_000021" "g.62146742T>C" "" "" "" "VPS13C(NM_017684.4):c.11047A>G (p.(Ile3683Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61854543T>C" "" "likely benign" "" "0000554962" "0" "50" "15" "62148606" "62148606" "subst" "0.000311964" "01943" "VPS13C_000022" "g.62148606C>T" "" "" "" "VPS13C(NM_020821.2):c.10955G>A (p.R3652Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61856407C>T" "" "VUS" "" "0000554964" "0" "50" "15" "62165518" "62165520" "del" "0" "01943" "VPS13C_000024" "g.62165518_62165520del" "" "" "" "VPS13C(NM_001018088.2):c.10507_10509delAGA (p.R3503del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61873319_61873321del" "" "VUS" "" "0000554965" "0" "30" "15" "62165593" "62165593" "subst" "1.21954E-5" "01943" "VPS13C_000025" "g.62165593A>G" "" "" "" "VPS13C(NM_001018088.2):c.10430T>C (p.V3477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61873394A>G" "" "likely benign" "" "0000554966" "0" "30" "15" "62168050" "62168050" "subst" "0.000615606" "01943" "VPS13C_000026" "g.62168050A>G" "" "" "" "VPS13C(NM_001018088.2):c.10225-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61875851A>G" "" "likely benign" "" "0000554967" "0" "30" "15" "62169232" "62169232" "subst" "0.00196535" "01943" "VPS13C_000027" "g.62169232T>C" "" "" "" "VPS13C(NM_001018088.2):c.10164A>G (p.R3388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61877033T>C" "" "likely benign" "" "0000554968" "0" "50" "15" "62170843" "62170843" "subst" "0" "01943" "VPS13C_000028" "g.62170843C>T" "" "" "" "VPS13C(NM_001018088.2):c.10105G>A (p.G3369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61878644C>T" "" "VUS" "" "0000554969" "0" "30" "15" "62199533" "62199533" "subst" "4.06441E-6" "01943" "VPS13C_000029" "g.62199533G>T" "" "" "" "VPS13C(NM_001018088.2):c.9035C>A (p.A3012E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61907334G>T" "" "likely benign" "" "0000554970" "0" "30" "15" "62199598" "62199598" "subst" "0.000228844" "01943" "VPS13C_000030" "g.62199598C>A" "" "" "" "VPS13C(NM_001018088.2):c.8979-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61907399C>A" "" "likely benign" "" "0000554971" "0" "30" "15" "62202454" "62202454" "subst" "0.000154275" "01943" "VPS13C_000031" "g.62202454C>G" "" "" "" "VPS13C(NM_001018088.2):c.8766G>C (p.V2922=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61910255C>G" "" "likely benign" "" "0000554972" "0" "30" "15" "62202512" "62202512" "subst" "9.8631E-6" "01943" "VPS13C_000032" "g.62202512T>C" "" "" "" "VPS13C(NM_001018088.2):c.8716-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61910313T>C" "" "likely benign" "" "0000554973" "0" "50" "15" "62204043" "62204043" "subst" "0.00234874" "01943" "VPS13C_000033" "g.62204043G>A" "" "" "" "VPS13C(NM_001018088.2):c.8711C>T (p.S2904L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61911844G>A" "" "VUS" "" "0000554975" "0" "30" "15" "62207998" "62207998" "subst" "4.0619E-6" "01943" "VPS13C_000035" "g.62207998A>G" "" "" "" "VPS13C(NM_001018088.2):c.8279T>C (p.I2760T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61915799A>G" "" "likely benign" "" "0000554976" "0" "30" "15" "62208009" "62208009" "subst" "0.000138115" "01943" "VPS13C_000036" "g.62208009G>A" "" "" "" "VPS13C(NM_001018088.2):c.8268C>T (p.H2756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61915810G>A" "" "likely benign" "" "0000554977" "0" "10" "15" "62208039" "62208039" "subst" "0.00117819" "01943" "VPS13C_000037" "g.62208039T>C" "" "" "" "VPS13C(NM_001018088.2):c.8238A>G (p.T2746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61915840T>C" "" "benign" "" "0000554978" "0" "30" "15" "62209840" "62209840" "subst" "0.000316482" "01943" "VPS13C_000038" "g.62209840G>A" "" "" "" "VPS13C(NM_001018088.2):c.7761-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61917641G>A" "" "likely benign" "" "0000554979" "0" "50" "15" "62211502" "62211502" "subst" "4.73672E-5" "01943" "VPS13C_000039" "g.62211502G>A" "" "" "" "VPS13C(NM_001018088.2):c.7624C>T (p.R2542C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61919303G>A" "" "VUS" "" "0000554980" "0" "50" "15" "62211517" "62211517" "subst" "0" "01943" "VPS13C_000040" "g.62211517T>C" "" "" "" "VPS13C(NM_001018088.2):c.7609A>G (p.K2537E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61919318T>C" "" "VUS" "" "0000554981" "0" "30" "15" "62211657" "62211657" "subst" "0" "01943" "VPS13C_000041" "g.62211657G>A" "" "" "" "VPS13C(NM_001018088.2):c.7478-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61919458G>A" "" "likely benign" "" "0000554983" "0" "50" "15" "62212445" "62212445" "subst" "0.000187107" "01943" "VPS13C_000043" "g.62212445G>C" "" "" "" "VPS13C(NM_001018088.2):c.7298C>G (p.P2433R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61920246G>C" "" "VUS" "" "0000554984" "0" "30" "15" "62212467" "62212467" "subst" "0.00172899" "01943" "VPS13C_000044" "g.62212467C>T" "" "" "" "VPS13C(NM_001018088.2):c.7276G>A (p.V2426I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61920268C>T" "" "likely benign" "" "0000554985" "0" "10" "15" "62212770" "62212770" "subst" "0.0041103" "01943" "VPS13C_000045" "g.62212770T>C" "" "" "" "VPS13C(NM_001018088.2):c.7139A>G (p.H2380R), VPS13C(NM_020821.2):c.7139A>G (p.(His2380Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61920571T>C" "" "benign" "" "0000554986" "0" "50" "15" "62214726" "62214726" "subst" "9.34739E-5" "01943" "VPS13C_000046" "g.62214726G>A" "" "" "" "VPS13C(NM_001018088.2):c.6845C>T (p.S2282F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61922527G>A" "" "VUS" "" "0000554987" "0" "30" "15" "62219335" "62219335" "subst" "4.87373E-5" "01943" "VPS13C_000047" "g.62219335G>A" "" "" "" "VPS13C(NM_001018088.2):c.6471C>T (p.L2157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61927136G>A" "" "likely benign" "" "0000554988" "0" "30" "15" "62219356" "62219356" "subst" "0.000280228" "01943" "VPS13C_000048" "g.62219356A>G" "" "" "" "VPS13C(NM_001018088.2):c.6450T>C (p.S2150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61927157A>G" "" "likely benign" "" "0000554989" "0" "30" "15" "62221926" "62221926" "subst" "0.000283175" "01943" "VPS13C_000049" "g.62221926G>A" "" "" "" "VPS13C(NM_001018088.2):c.6060C>T (p.D2020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61929727G>A" "" "likely benign" "" "0000554990" "0" "30" "15" "62234102" "62234102" "subst" "5.2873E-5" "01943" "VPS13C_000050" "g.62234102T>C" "" "" "" "VPS13C(NM_001018088.2):c.5313A>G (p.S1771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61941903T>C" "" "likely benign" "" "0000554991" "0" "30" "15" "62234150" "62234150" "subst" "0" "01943" "VPS13C_000051" "g.62234150C>T" "" "" "" "VPS13C(NM_001018088.2):c.5265G>A (p.L1755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61941951C>T" "" "likely benign" "" "0000554992" "0" "30" "15" "62238002" "62238002" "subst" "0.00333567" "01943" "VPS13C_000052" "g.62238002G>A" "" "" "" "VPS13C(NM_001018088.2):c.5060C>T (p.A1687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61945803G>A" "" "likely benign" "" "0000554993" "0" "30" "15" "62239450" "62239450" "subst" "5.81014E-5" "01943" "VPS13C_000053" "g.62239450A>G" "" "" "" "VPS13C(NM_001018088.2):c.4818T>C (p.N1606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61947251A>G" "" "likely benign" "" "0000554994" "0" "10" "15" "62239516" "62239516" "dup" "0" "01943" "VPS13C_000054" "g.62239516dup" "" "" "" "VPS13C(NM_001018088.2):c.4760-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61947317dup" "" "benign" "" "0000554995" "0" "50" "15" "62241650" "62241656" "del" "0" "01943" "VPS13C_000055" "g.62241650_62241656del" "" "" "" "VPS13C(NM_001018088.2):c.4745_4751delTCGCTGT (p.I1582Tfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61949451_61949457del" "" "VUS" "" "0000554996" "0" "30" "15" "62241691" "62241691" "subst" "0.000423953" "01943" "VPS13C_000056" "g.62241691G>A" "" "" "" "VPS13C(NM_001018088.2):c.4710C>T (p.S1570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61949492G>A" "" "likely benign" "" "0000554997" "0" "50" "15" "62241732" "62241732" "subst" "3.66706E-5" "01943" "VPS13C_000057" "g.62241732C>G" "" "" "" "VPS13C(NM_001018088.2):c.4669G>C (p.A1557P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61949533C>G" "" "VUS" "" "0000554998" "0" "30" "15" "62242586" "62242586" "subst" "0.000138439" "01943" "VPS13C_000058" "g.62242586T>C" "" "" "" "VPS13C(NM_001018088.2):c.4567A>G (p.I1523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61950387T>C" "" "likely benign" "" "0000554999" "0" "30" "15" "62243174" "62243174" "subst" "0.000263173" "01943" "VPS13C_000059" "g.62243174G>A" "" "" "" "VPS13C(NM_001018088.2):c.4506C>T (p.D1502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61950975G>A" "" "likely benign" "" "0000555000" "0" "50" "15" "62246672" "62246672" "del" "0" "01943" "VPS13C_000060" "g.62246672del" "" "" "" "VPS13C(NM_001018088.2):c.4249delA (p.I1417Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61954473del" "" "VUS" "" "0000555001" "0" "10" "15" "62253919" "62253919" "subst" "0.000622007" "01943" "VPS13C_000061" "g.62253919G>C" "" "" "" "VPS13C(NM_001018088.2):c.3777C>G (p.T1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61961720G>C" "" "benign" "" "0000555002" "0" "50" "15" "62253984" "62253984" "subst" "1.22052E-5" "01943" "VPS13C_000062" "g.62253984G>A" "" "" "" "VPS13C(NM_001018088.2):c.3712C>T (p.R1238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61961785G>A" "" "VUS" "" "0000555003" "0" "30" "15" "62256131" "62256131" "subst" "0.00914192" "01943" "VPS13C_000063" "g.62256131A>G" "" "" "" "VPS13C(NM_001018088.2):c.3234T>C (p.D1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61963932A>G" "" "likely benign" "" "0000555004" "0" "50" "15" "62264862" "62264862" "subst" "3.66202E-5" "01943" "VPS13C_000064" "g.62264862C>T" "" "" "" "VPS13C(NM_001018088.2):c.2719G>A (p.E907K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61972663C>T" "" "VUS" "" "0000555005" "0" "10" "15" "62273686" "62273686" "subst" "0.000610219" "01943" "VPS13C_000065" "g.62273686G>A" "" "" "" "VPS13C(NM_001018088.2):c.2030-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61981487G>A" "" "benign" "" "0000555006" "0" "50" "15" "62276107" "62276107" "subst" "0.000248155" "01943" "VPS13C_000066" "g.62276107T>A" "" "" "" "VPS13C(NM_001018088.2):c.1826A>T (p.K609I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61983908T>A" "" "VUS" "" "0000555007" "0" "50" "15" "62277069" "62277069" "subst" "0" "01943" "VPS13C_000067" "g.62277069C>T" "" "" "" "VPS13C(NM_001018088.2):c.1708G>A (p.A570T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61984870C>T" "" "VUS" "" "0000555008" "0" "50" "15" "62277152" "62277152" "subst" "0.00161331" "01943" "VPS13C_000068" "g.62277152G>A" "" "" "" "VPS13C(NM_001018088.2):c.1625C>T (p.T542M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61984953G>A" "" "VUS" "" "0000555009" "0" "50" "15" "62302757" "62302757" "subst" "0.000211914" "01943" "VPS13C_000069" "g.62302757G>C" "" "" "" "VPS13C(NM_001018088.2):c.925C>G (p.P309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62010558G>C" "" "VUS" "" "0000555010" "0" "50" "15" "62306142" "62306142" "subst" "0.000103008" "01943" "VPS13C_000070" "g.62306142A>G" "" "" "" "VPS13C(NM_001018088.2):c.734T>C (p.I245T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62013943A>G" "" "VUS" "" "0000555011" "0" "30" "15" "62320573" "62320573" "subst" "0.000134309" "01943" "VPS13C_000071" "g.62320573G>A" "" "" "" "VPS13C(NM_001018088.2):c.432C>T (p.Y144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62028374G>A" "" "likely benign" "" "0000555012" "0" "30" "15" "62320579" "62320579" "subst" "0.000520884" "01943" "VPS13C_000072" "g.62320579A>G" "" "" "" "VPS13C(NM_001018088.2):c.426T>C (p.F142=), VPS13C(NM_020821.3):c.426T>C (p.(Phe142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62028380A>G" "" "likely benign" "" "0000555013" "0" "30" "15" "62327196" "62327196" "subst" "0.000318024" "01943" "VPS13C_000073" "g.62327196C>T" "" "" "" "VPS13C(NM_001018088.2):c.243G>A (p.A81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62034997C>T" "" "likely benign" "" "0000615412" "0" "50" "15" "62147087" "62147087" "subst" "0.000962087" "01943" "VPS13C_000074" "g.62147087C>A" "" "" "" "VPS13C(NM_020821.2):c.11143G>T (p.D3715Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61854888C>A" "" "VUS" "" "0000615413" "0" "50" "15" "62219453" "62219453" "subst" "0" "01943" "VPS13C_000075" "g.62219453G>A" "" "" "" "VPS13C(NM_001018088.2):c.6353C>T (p.A2118V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61927254G>A" "" "VUS" "" "0000615414" "0" "50" "15" "62276210" "62276210" "subst" "0" "01943" "VPS13C_000079" "g.62276210C>A" "" "" "" "VPS13C(NM_001018088.2):c.1723G>T (p.V575L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61984011C>A" "" "VUS" "" "0000615415" "0" "50" "15" "62302720" "62302720" "subst" "0" "01943" "VPS13C_000081" "g.62302720T>A" "" "" "" "VPS13C(NM_001018088.2):c.962A>T (p.D321V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62010521T>A" "" "VUS" "" "0000623273" "0" "30" "15" "62226526" "62226526" "subst" "9.63289E-6" "01943" "VPS13C_000076" "g.62226526T>C" "" "" "" "VPS13C(NM_001018088.2):c.5760A>G (p.Q1920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61934327T>C" "" "likely benign" "" "0000623274" "0" "50" "15" "62265673" "62265673" "subst" "0" "01943" "VPS13C_000077" "g.62265673A>C" "" "" "" "VPS13C(NM_001018088.2):c.2597T>G (p.L866W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61973474A>C" "" "VUS" "" "0000623275" "0" "50" "15" "62269312" "62269312" "subst" "0.000109571" "01943" "VPS13C_000078" "g.62269312C>T" "" "" "" "VPS13C(NM_001018088.2):c.2377G>A (p.A793T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61977113C>T" "" "VUS" "" "0000623276" "0" "50" "15" "62292773" "62292773" "subst" "1.24606E-5" "01943" "VPS13C_000080" "g.62292773G>A" "" "" "" "VPS13C(NM_001018088.2):c.1343C>T (p.A448V), VPS13C(NM_020821.3):c.1343C>T (p.(Ala448Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62000574G>A" "" "VUS" "" "0000657621" "0" "90" "15" "62148607" "62148607" "subst" "0.000179217" "01943" "VPS13C_000082" "g.62148607G>A" "" "" "" "VPS13C(NM_020821.2):c.10954C>T (p.R3652*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61856408G>A" "" "pathogenic" "" "0000657622" "0" "50" "15" "62182599" "62182599" "subst" "0.000155036" "02325" "VPS13C_000083" "g.62182599C>T" "" "" "" "VPS13C(NM_001018088.3):c.9106G>A (p.D3036N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61890400C>T" "" "VUS" "" "0000657623" "0" "50" "15" "62212445" "62212445" "subst" "6.50809E-5" "02325" "VPS13C_000084" "g.62212445G>A" "" "" "" "VPS13C(NM_001018088.3):c.7298C>T (p.P2433L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61920246G>A" "" "VUS" "" "0000657624" "0" "30" "15" "62214756" "62214756" "subst" "0.000495838" "01943" "VPS13C_000085" "g.62214756A>G" "" "" "" "VPS13C(NM_001018088.2):c.6815T>C (p.I2272T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61922557A>G" "" "likely benign" "" "0000657625" "0" "50" "15" "62302765" "62302765" "subst" "0" "01943" "VPS13C_000086" "g.62302765T>G" "" "" "" "VPS13C(NM_001018088.2):c.917A>C (p.Y306S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62010566T>G" "" "VUS" "" "0000680232" "0" "50" "15" "62202504" "62202504" "subst" "0" "01943" "VPS13C_000087" "g.62202504A>T" "" "" "" "VPS13C(NM_001018088.2):c.8716T>A (p.C2906S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680233" "0" "50" "15" "62207911" "62207911" "subst" "1.62957E-5" "01943" "VPS13C_000088" "g.62207911A>T" "" "" "" "VPS13C(NM_001018088.2):c.8366T>A (p.I2789N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680234" "0" "30" "15" "62234275" "62234275" "subst" "9.04028E-6" "01943" "VPS13C_000089" "g.62234275A>G" "" "" "" "VPS13C(NM_001018088.2):c.5149-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680235" "0" "30" "15" "62259630" "62259630" "subst" "4.72468E-5" "01943" "VPS13C_000090" "g.62259630G>A" "" "" "" "VPS13C(NM_001018088.2):c.2928C>T (p.P976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680236" "0" "30" "15" "62276135" "62276135" "subst" "0.000118014" "01943" "VPS13C_000091" "g.62276135T>C" "" "" "" "VPS13C(NM_001018088.2):c.1798A>G (p.I600V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680237" "0" "50" "15" "62299572" "62299572" "subst" "4.89776E-5" "01943" "VPS13C_000092" "g.62299572T>C" "" "" "" "VPS13C(NM_001018088.2):c.1225A>G (p.K409E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680238" "0" "30" "15" "62302731" "62302731" "subst" "0.000394774" "01943" "VPS13C_000093" "g.62302731C>T" "" "" "" "VPS13C(NM_001018088.2):c.951G>A (p.T317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680239" "0" "30" "15" "62302765" "62302765" "subst" "3.6647E-5" "01943" "VPS13C_000094" "g.62302765T>C" "" "" "" "VPS13C(NM_001018088.2):c.917A>G (p.Y306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680240" "0" "50" "15" "62327197" "62327197" "subst" "8.69767E-5" "01943" "VPS13C_000095" "g.62327197G>A" "" "" "" "VPS13C(NM_001018088.2):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691826" "0" "50" "15" "62201262" "62201262" "dup" "0" "01943" "VPS13C_000096" "g.62201262dup" "" "" "" "VPS13C(NM_020821.2):c.8908dupT (p.Y2970Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691827" "0" "30" "15" "62244032" "62244032" "subst" "0.000210758" "01943" "VPS13C_000097" "g.62244032C>T" "" "" "" "VPS13C(NM_001018088.2):c.4447G>A (p.D1483N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691828" "0" "50" "15" "62306160" "62306160" "subst" "8.18511E-6" "01943" "VPS13C_000098" "g.62306160A>G" "" "" "" "VPS13C(NM_001018088.2):c.716T>C (p.L239S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725221" "0" "10" "15" "62202482" "62202482" "subst" "0.561383" "02329" "VPS13C_000099" "g.62202482C>T" "" "" "" "VPS13C(NM_001018088.3):c.8738G>A (p.S2913N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725222" "0" "30" "15" "62214766" "62214766" "subst" "0" "01943" "VPS13C_000100" "g.62214766G>A" "" "" "" "VPS13C(NM_001018088.2):c.6805C>T (p.H2269Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725223" "0" "10" "15" "62223273" "62223273" "subst" "0.564903" "02329" "VPS13C_000101" "g.62223273C>T" "" "" "" "VPS13C(NM_001018088.3):c.6038+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725224" "0" "30" "15" "62238585" "62238585" "subst" "2.11418E-5" "01943" "VPS13C_000102" "g.62238585T>G" "" "" "" "VPS13C(NM_001018088.2):c.4901A>C (p.K1634T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725225" "0" "30" "15" "62241654" "62241654" "subst" "0.000160996" "01943" "VPS13C_000103" "g.62241654C>T" "" "" "" "VPS13C(NM_001018088.2):c.4747G>A (p.A1583T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725226" "0" "30" "15" "62246761" "62246761" "subst" "0.00167788" "01943" "VPS13C_000104" "g.62246761G>T" "" "" "" "VPS13C(NM_001018088.2):c.4166-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725227" "0" "10" "15" "62254989" "62254989" "subst" "0.0726106" "02329" "VPS13C_000105" "g.62254989T>C" "" "" "" "VPS13C(NM_001018088.3):c.3394A>G (p.I1132V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725228" "0" "10" "15" "62259637" "62259637" "subst" "0.610929" "02329" "VPS13C_000106" "g.62259637C>T" "" "" "" "VPS13C(NM_001018088.3):c.2921G>A (p.R974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725229" "0" "30" "15" "62283963" "62283963" "subst" "0.000288937" "01943" "VPS13C_000107" "g.62283963A>T" "" "" "" "VPS13C(NM_001018088.2):c.1392T>A (p.A464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725230" "0" "30" "15" "62315982" "62315982" "subst" "0.00108124" "01943" "VPS13C_000108" "g.62315982T>C" "" "" "" "VPS13C(NM_001018088.2):c.511A>G (p.K171E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725231" "0" "10" "15" "62316035" "62316035" "subst" "0.0733875" "02329" "VPS13C_000109" "g.62316035C>T" "" "" "" "VPS13C(NM_001018088.3):c.458G>A (p.R153H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806822" "0" "10" "15" "62165553" "62165553" "subst" "0.060885" "02329" "VPS13C_000110" "g.62165553T>C" "" "" "" "VPS13C(NM_001018088.3):c.10470A>G (p.A3490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806823" "0" "10" "15" "62165577" "62165577" "subst" "0.0635721" "02329" "VPS13C_000111" "g.62165577G>A" "" "" "" "VPS13C(NM_001018088.3):c.10446C>T (p.T3482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806824" "0" "30" "15" "62172800" "62172800" "subst" "0" "01943" "VPS13C_000112" "g.62172800C>T" "" "" "" "VPS13C(NM_001018088.2):c.10002+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806825" "0" "10" "15" "62172907" "62172907" "subst" "0.0617259" "02329" "VPS13C_000113" "g.62172907T>C" "" "" "" "VPS13C(NM_001018088.3):c.9903A>G (p.Q3301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806826" "0" "10" "15" "62174894" "62174894" "subst" "0.0598373" "02329" "VPS13C_000114" "g.62174894A>G" "" "" "" "VPS13C(NM_001018088.3):c.9525T>C (p.I3175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806827" "0" "30" "15" "62199488" "62199488" "subst" "0.000304752" "01943" "VPS13C_000115" "g.62199488T>C" "" "" "" "VPS13C(NM_001018088.2):c.9080A>G (p.N3027S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806828" "0" "10" "15" "62201344" "62201344" "del" "0" "02329" "VPS13C_000116" "g.62201344del" "" "" "" "VPS13C(NM_001018088.3):c.8845-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806829" "0" "30" "15" "62204099" "62204099" "subst" "7.33174E-5" "01943" "VPS13C_000117" "g.62204099G>A" "" "" "" "VPS13C(NM_001018088.2):c.8655C>T (p.G2885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806830" "0" "30" "15" "62210412" "62210412" "subst" "0" "01943" "VPS13C_000118" "g.62210412A>C" "" "" "" "VPS13C(NM_001018088.2):c.7683T>G (p.V2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806831" "0" "50" "15" "62211547" "62211547" "subst" "8.36687E-6" "01943" "VPS13C_000119" "g.62211547A>T" "" "" "" "VPS13C(NM_001018088.2):c.7579T>A (p.L2527M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806832" "0" "30" "15" "62212426" "62212426" "subst" "0.000288752" "01943" "VPS13C_000120" "g.62212426A>G" "" "" "" "VPS13C(NM_001018088.2):c.7317T>C (p.N2439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806833" "0" "30" "15" "62212502" "62212502" "subst" "4.09062E-6" "01943" "VPS13C_000121" "g.62212502A>G" "" "" "" "VPS13C(NM_001018088.2):c.7241T>C (p.F2414S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806834" "0" "10" "15" "62214607" "62214607" "subst" "0.0604348" "02329" "VPS13C_000122" "g.62214607C>T" "" "" "" "VPS13C(NM_001018088.3):c.6964G>A (p.V2322M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806835" "0" "30" "15" "62214683" "62214683" "subst" "0" "01943" "VPS13C_000123" "g.62214683T>C" "" "" "" "VPS13C(NM_001018088.2):c.6888A>G (p.V2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806836" "0" "10" "15" "62217641" "62217641" "subst" "0.0618744" "02329" "VPS13C_000124" "g.62217641T>C" "" "" "" "VPS13C(NM_001018088.3):c.6609+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806837" "0" "30" "15" "62219512" "62219512" "subst" "0.000118087" "01943" "VPS13C_000125" "g.62219512A>G" "" "" "" "VPS13C(NM_001018088.2):c.6294T>C (p.S2098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806838" "0" "30" "15" "62223426" "62223426" "subst" "0" "01943" "VPS13C_000126" "g.62223426G>C" "" "" "" "VPS13C(NM_001018088.2):c.5901C>G (p.F1967L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806839" "0" "90" "15" "62239432" "62239435" "del" "0" "01943" "VPS13C_000127" "g.62239432_62239435del" "" "" "" "VPS13C(NM_001018088.2):c.4836_4839delCTGT (p.C1613Ifs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806840" "0" "10" "15" "62243197" "62243197" "subst" "0.0601489" "02329" "VPS13C_000128" "g.62243197T>C" "" "" "" "VPS13C(NM_001018088.3):c.4483A>G (p.I1495V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806841" "0" "10" "15" "62253791" "62253791" "subst" "0.0604166" "02329" "VPS13C_000129" "g.62253791T>C" "" "" "" "VPS13C(NM_001018088.3):c.3905A>G (p.Y1302C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806842" "0" "50" "15" "62259631" "62259631" "subst" "5.18309E-5" "01943" "VPS13C_000130" "g.62259631G>A" "" "" "" "VPS13C(NM_001018088.2):c.2927C>T (p.P976L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806843" "0" "50" "15" "62261522" "62261522" "subst" "2.94657E-5" "01943" "VPS13C_000131" "g.62261522T>C" "" "" "" "VPS13C(NM_001018088.2):c.2887A>G (p.S963G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806844" "0" "30" "15" "62264952" "62264952" "subst" "2.04228E-5" "01943" "VPS13C_000132" "g.62264952C>T" "" "" "" "VPS13C(NM_001018088.2):c.2629G>A (p.E877K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806845" "0" "30" "15" "62277151" "62277151" "subst" "3.28877E-5" "01943" "VPS13C_000133" "g.62277151C>T" "" "" "" "VPS13C(NM_001018088.2):c.1626G>A (p.T542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854107" "0" "50" "15" "62211574" "62211574" "subst" "0" "01943" "VPS13C_000134" "g.62211574G>A" "" "" "" "VPS13C(NM_001018088.2):c.7552C>T (p.P2518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854108" "0" "30" "15" "62217712" "62217712" "subst" "0.000326289" "01943" "VPS13C_000135" "g.62217712A>G" "" "" "" "VPS13C(NM_001018088.2):c.6552T>C (p.C2184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854109" "0" "30" "15" "62232958" "62232958" "subst" "0.00022381" "01943" "VPS13C_000136" "g.62232958A>G" "" "" "" "VPS13C(NM_001018088.2):c.5489T>C (p.I1830T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854110" "0" "50" "15" "62251644" "62251644" "subst" "2.05553E-5" "01943" "VPS13C_000137" "g.62251644T>G" "" "" "" "VPS13C(NM_001018088.2):c.4056+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854111" "0" "50" "15" "62276087" "62276087" "subst" "4.06745E-6" "01943" "VPS13C_000140" "g.62276087G>T" "" "" "" "VPS13C(NM_001018088.2):c.1846C>A (p.P616T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854112" "0" "30" "15" "62276202" "62276202" "subst" "0.00143912" "01943" "VPS13C_000141" "g.62276202C>T" "" "" "" "VPS13C(NM_001018088.2):c.1731G>A (p.A577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854113" "0" "50" "15" "62292786" "62292786" "subst" "3.31804E-5" "01943" "VPS13C_000142" "g.62292786C>G" "" "" "" "VPS13C(NM_001018088.2):c.1330G>C (p.A444P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854114" "0" "30" "15" "62306138" "62306138" "subst" "8.256E-6" "01943" "VPS13C_000143" "g.62306138T>A" "" "" "" "VPS13C(NM_001018088.2):c.738A>T (p.I246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863917" "0" "50" "15" "62254613" "62254613" "subst" "0" "01943" "VPS13C_000138" "g.62254613C>G" "" "" "" "VPS13C(NM_001018088.2):c.3560G>C (p.C1187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863918" "0" "30" "15" "62274730" "62274730" "subst" "2.05743E-5" "01943" "VPS13C_000139" "g.62274730C>T" "" "" "" "VPS13C(NM_001018088.2):c.1957G>A (p.G653R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863919" "0" "50" "15" "62320618" "62320618" "subst" "0.000594279" "01943" "VPS13C_000144" "g.62320618G>A" "" "" "" "VPS13C(NM_001018088.2):c.387C>T (p.G129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930412" "0" "10" "15" "62243244" "62243244" "dup" "0" "02329" "VPS13C_000145" "g.62243244dup" "" "" "" "VPS13C(NM_001018088.3):c.4457-19dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967877" "0" "50" "15" "62219414" "62219414" "subst" "3.65512E-5" "02329" "VPS13C_000146" "g.62219414G>A" "" "" "" "VPS13C(NM_001018088.3):c.6392C>T (p.S2131L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981328" "0" "50" "15" "62320579" "62320579" "subst" "0.000520884" "01804" "VPS13C_000072" "g.62320579A>G" "" "" "" "VPS13C(NM_001018088.2):c.426T>C (p.F142=), VPS13C(NM_020821.3):c.426T>C (p.(Phe142=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001551" "0" "10" "15" "62199580" "62199580" "subst" "0.0341773" "02329" "VPS13C_000147" "g.62199580T>A" "" "" "" "VPS13C(NM_001018088.3):c.8988A>T (p.P2996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001552" "0" "10" "15" "62207911" "62207911" "subst" "0.00620865" "01804" "VPS13C_000148" "g.62207911A>G" "" "" "" "VPS13C(NM_020821.2):c.8366T>C (p.(Ile2789Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001553" "0" "30" "15" "62212770" "62212770" "subst" "0.0041103" "01804" "VPS13C_000045" "g.62212770T>C" "" "" "" "VPS13C(NM_001018088.2):c.7139A>G (p.H2380R), VPS13C(NM_020821.2):c.7139A>G (p.(His2380Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001554" "0" "30" "15" "62219337" "62219337" "subst" "0.00828521" "01804" "VPS13C_000149" "g.62219337G>A" "" "" "" "VPS13C(NM_020821.2):c.6469C>T (p.(Leu2157Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001555" "0" "50" "15" "62234253" "62234253" "subst" "0" "01804" "VPS13C_000150" "g.62234253T>C" "" "" "" "VPS13C(NM_020821.2):c.5162A>G (p.(Asn1721Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001556" "0" "10" "15" "62244117" "62244117" "subst" "0.024022" "02329" "VPS13C_000151" "g.62244117G>A" "" "" "" "VPS13C(NM_001018088.3):c.4362C>T (p.V1454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001557" "0" "50" "15" "62320556" "62320556" "subst" "0" "01804" "VPS13C_000152" "g.62320556C>T" "" "" "" "VPS13C(NM_020821.2):c.448+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040481" "0" "50" "15" "62292773" "62292773" "subst" "1.24606E-5" "01804" "VPS13C_000080" "g.62292773G>A" "" "" "" "VPS13C(NM_001018088.2):c.1343C>T (p.A448V), VPS13C(NM_020821.3):c.1343C>T (p.(Ala448Val))" "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 VPS13C ## Count = 152 "{{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}}" "0000096996" "00024178" "90" "8445" "2" "8445" "2" "c.8445+2T>G" "r.[8215_8445del, ?]" "p.?" "61i" "0000096997" "00024178" "90" "806" "0" "807" "0" "c.806_807insCAGA" "r.(?)" "p.(Arg269Serfs*14)" "11" "0000096999" "00024178" "90" "9568" "0" "9568" "0" "c.9568G>T" "r.(?)" "p.(Glu3190*)" "69" "0000097004" "00024178" "90" "4165" "0" "4165" "0" "c.4165G>C" "r.[4165g>c;4165_4166ins4165+1_4165+14]" "p.Gly1389Argfs*27" "37" "0000097005" "00024178" "90" "4777" "0" "4777" "0" "c.4777del" "r.(?)" "p.(Gln1593Lysfs*7)" "43" "0000255298" "00024178" "30" "5148" "10" "5148" "10" "c.5148+10T>A" "r.(=)" "p.(=)" "" "0000319727" "00024178" "30" "10029" "0" "10029" "0" "c.10029C>T" "r.(?)" "p.(Ser3343=)" "" "0000319728" "00024178" "50" "10030" "0" "10030" "0" "c.10030G>A" "r.(?)" "p.(Gly3344Arg)" "" "0000319729" "00024178" "90" "1484" "-2" "1484" "-2" "c.1484-2A>G" "r.spl?" "p.?" "" "0000319730" "00024178" "30" "2271" "0" "2271" "0" "c.2271A>G" "r.(?)" "p.(Gln757=)" "" "0000319731" "00024178" "30" "2797" "0" "2797" "0" "c.2797A>G" "r.(?)" "p.(Thr933Ala)" "" "0000319732" "00024178" "50" "2889" "0" "2889" "0" "c.2889C>G" "r.(?)" "p.(Ser963Arg)" "" "0000319733" "00024178" "50" "3713" "0" "3713" "0" "c.3713G>A" "r.(?)" "p.(Arg1238His)" "" "0000319734" "00024178" "50" "7644" "0" "7644" "0" "c.7644A>C" "r.(?)" "p.(Lys2548Asn)" "" "0000319735" "00024178" "50" "9411" "0" "9412" "0" "c.9411_9412del" "r.(?)" "p.(Leu3137PhefsTer18)" "" "0000319736" "00024178" "30" "9526" "0" "9526" "0" "c.9526C>G" "r.(?)" "p.(Arg3176Gly)" "" "0000319737" "00024178" "50" "9595" "0" "9595" "0" "c.9595A>G" "r.(?)" "p.(Ser3199Gly)" "" "0000324142" "00024178" "50" "10085" "0" "10085" "0" "c.10085A>G" "r.(?)" "p.(Asn3362Ser)" "" "0000324143" "00024178" "50" "8353" "0" "8353" "0" "c.8353C>T" "r.(?)" "p.(Arg2785Cys)" "" "0000368891" "00024178" "70" "1353" "3556" "9106" "-7010" "c.1353+3556_9106-7010delinsGAAGTGC" "r.?" "p.?" "16i_66i" "0000554961" "00024178" "30" "11176" "0" "11176" "0" "c.11176A>G" "r.(?)" "p.(Ile3726Val)" "" "0000554962" "00024178" "50" "10955" "0" "10955" "0" "c.10955G>A" "r.(?)" "p.(Arg3652Gln)" "" "0000554964" "00024178" "50" "10507" "0" "10509" "0" "c.10507_10509del" "r.(?)" "p.(Arg3503del)" "" "0000554965" "00024178" "30" "10430" "0" "10430" "0" "c.10430T>C" "r.(?)" "p.(Val3477Ala)" "" "0000554966" "00024178" "30" "10225" "-6" "10225" "-6" "c.10225-6T>C" "r.(=)" "p.(=)" "" "0000554967" "00024178" "30" "10164" "0" "10164" "0" "c.10164A>G" "r.(?)" "p.(Arg3388=)" "" "0000554968" "00024178" "50" "10105" "0" "10105" "0" "c.10105G>A" "r.(?)" "p.(Gly3369Ser)" "" "0000554969" "00024178" "30" "9035" "0" "9035" "0" "c.9035C>A" "r.(?)" "p.(Ala3012Glu)" "" "0000554970" "00024178" "30" "8979" "-9" "8979" "-9" "c.8979-9G>T" "r.(=)" "p.(=)" "" "0000554971" "00024178" "30" "8766" "0" "8766" "0" "c.8766G>C" "r.(?)" "p.(Val2922=)" "" "0000554972" "00024178" "30" "8716" "-8" "8716" "-8" "c.8716-8A>G" "r.(=)" "p.(=)" "" "0000554973" "00024178" "50" "8711" "0" "8711" "0" "c.8711C>T" "r.(?)" "p.(Ser2904Leu)" "" "0000554975" "00024178" "30" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Ile2760Thr)" "" "0000554976" "00024178" "30" "8268" "0" "8268" "0" "c.8268C>T" "r.(?)" "p.(His2756=)" "" "0000554977" "00024178" "10" "8238" "0" "8238" "0" "c.8238A>G" "r.(?)" "p.(Thr2746=)" "" "0000554978" "00024178" "30" "7761" "-6" "7761" "-6" "c.7761-6C>T" "r.(=)" "p.(=)" "" "0000554979" "00024178" "50" "7624" "0" "7624" "0" "c.7624C>T" "r.(?)" "p.(Arg2542Cys)" "" "0000554980" "00024178" "50" "7609" "0" "7609" "0" "c.7609A>G" "r.(?)" "p.(Lys2537Glu)" "" "0000554981" "00024178" "30" "7478" "-9" "7478" "-9" "c.7478-9C>T" "r.(=)" "p.(=)" "" "0000554983" "00024178" "50" "7298" "0" "7298" "0" "c.7298C>G" "r.(?)" "p.(Pro2433Arg)" "" "0000554984" "00024178" "30" "7276" "0" "7276" "0" "c.7276G>A" "r.(?)" "p.(Val2426Ile)" "" "0000554985" "00024178" "10" "7139" "0" "7139" "0" "c.7139A>G" "r.(?)" "p.(His2380Arg)" "" "0000554986" "00024178" "50" "6845" "0" "6845" "0" "c.6845C>T" "r.(?)" "p.(Ser2282Phe)" "" "0000554987" "00024178" "30" "6471" "0" "6471" "0" "c.6471C>T" "r.(?)" "p.(Leu2157=)" "" "0000554988" "00024178" "30" "6450" "0" "6450" "0" "c.6450T>C" "r.(?)" "p.(Ser2150=)" "" "0000554989" "00024178" "30" "6060" "0" "6060" "0" "c.6060C>T" "r.(?)" "p.(Asp2020=)" "" "0000554990" "00024178" "30" "5313" "0" "5313" "0" "c.5313A>G" "r.(?)" "p.(Ser1771=)" "" "0000554991" "00024178" "30" "5265" "0" "5265" "0" "c.5265G>A" "r.(?)" "p.(Leu1755=)" "" "0000554992" "00024178" "30" "5060" "0" "5060" "0" "c.5060C>T" "r.(?)" "p.(Ala1687Val)" "" "0000554993" "00024178" "30" "4818" "0" "4818" "0" "c.4818T>C" "r.(?)" "p.(Asn1606=)" "" "0000554994" "00024178" "10" "4760" "-3" "4760" "-3" "c.4760-3dup" "r.spl?" "p.?" "" "0000554995" "00024178" "50" "4745" "0" "4751" "0" "c.4745_4751del" "r.(?)" "p.(Ile1582ThrfsTer16)" "" "0000554996" "00024178" "30" "4710" "0" "4710" "0" "c.4710C>T" "r.(?)" "p.(Ser1570=)" "" "0000554997" "00024178" "50" "4669" "0" "4669" "0" "c.4669G>C" "r.(?)" "p.(Ala1557Pro)" "" "0000554998" "00024178" "30" "4567" "0" "4567" "0" "c.4567A>G" "r.(?)" "p.(Ile1523Val)" "" "0000554999" "00024178" "30" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Asp1502=)" "" "0000555000" "00024178" "50" "4249" "0" "4249" "0" "c.4249del" "r.(?)" "p.(Ile1417LeufsTer4)" "" "0000555001" "00024178" "10" "3777" "0" "3777" "0" "c.3777C>G" "r.(?)" "p.(Thr1259=)" "" "0000555002" "00024178" "50" "3712" "0" "3712" "0" "c.3712C>T" "r.(?)" "p.(Arg1238Cys)" "" "0000555003" "00024178" "30" "3234" "0" "3234" "0" "c.3234T>C" "r.(?)" "p.(Asp1078=)" "" "0000555004" "00024178" "50" "2719" "0" "2719" "0" "c.2719G>A" "r.(?)" "p.(Glu907Lys)" "" "0000555005" "00024178" "10" "2030" "-9" "2030" "-9" "c.2030-9C>T" "r.(=)" "p.(=)" "" "0000555006" "00024178" "50" "1826" "0" "1826" "0" "c.1826A>T" "r.(?)" "p.(Lys609Ile)" "" "0000555007" "00024178" "50" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Ala570Thr)" "" "0000555008" "00024178" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Thr542Met)" "" "0000555009" "00024178" "50" "925" "0" "925" "0" "c.925C>G" "r.(?)" "p.(Pro309Ala)" "" "0000555010" "00024178" "50" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Ile245Thr)" "" "0000555011" "00024178" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Tyr144=)" "" "0000555012" "00024178" "30" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Phe142=)" "" "0000555013" "00024178" "30" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Ala81=)" "" "0000615412" "00024178" "50" "11143" "0" "11143" "0" "c.11143G>T" "r.(?)" "p.(Asp3715Tyr)" "" "0000615413" "00024178" "50" "6353" "0" "6353" "0" "c.6353C>T" "r.(?)" "p.(Ala2118Val)" "" "0000615414" "00024178" "50" "1723" "0" "1723" "0" "c.1723G>T" "r.(?)" "p.(Val575Leu)" "" "0000615415" "00024178" "50" "962" "0" "962" "0" "c.962A>T" "r.(?)" "p.(Asp321Val)" "" "0000623273" "00024178" "30" "5760" "0" "5760" "0" "c.5760A>G" "r.(?)" "p.(Gln1920=)" "" "0000623274" "00024178" "50" "2597" "0" "2597" "0" "c.2597T>G" "r.(?)" "p.(Leu866Trp)" "" "0000623275" "00024178" "50" "2377" "0" "2377" "0" "c.2377G>A" "r.(?)" "p.(Ala793Thr)" "" "0000623276" "00024178" "50" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ala448Val)" "" "0000657621" "00024178" "90" "10954" "0" "10954" "0" "c.10954C>T" "r.(?)" "p.(Arg3652Ter)" "" "0000657622" "00024178" "50" "9106" "0" "9106" "0" "c.9106G>A" "r.(?)" "p.(Asp3036Asn)" "" "0000657623" "00024178" "50" "7298" "0" "7298" "0" "c.7298C>T" "r.(?)" "p.(Pro2433Leu)" "" "0000657624" "00024178" "30" "6815" "0" "6815" "0" "c.6815T>C" "r.(?)" "p.(Ile2272Thr)" "" "0000657625" "00024178" "50" "917" "0" "917" "0" "c.917A>C" "r.(?)" "p.(Tyr306Ser)" "" "0000680232" "00024178" "50" "8716" "0" "8716" "0" "c.8716T>A" "r.(?)" "p.(Cys2906Ser)" "" "0000680233" "00024178" "50" "8366" "0" "8366" "0" "c.8366T>A" "r.(?)" "p.(Ile2789Asn)" "" "0000680234" "00024178" "30" "5149" "-9" "5149" "-9" "c.5149-9T>C" "r.(=)" "p.(=)" "" "0000680235" "00024178" "30" "2928" "0" "2928" "0" "c.2928C>T" "r.(?)" "p.(Pro976=)" "" "0000680236" "00024178" "30" "1798" "0" "1798" "0" "c.1798A>G" "r.(?)" "p.(Ile600Val)" "" "0000680237" "00024178" "50" "1225" "0" "1225" "0" "c.1225A>G" "r.(?)" "p.(Lys409Glu)" "" "0000680238" "00024178" "30" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Thr317=)" "" "0000680239" "00024178" "30" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Tyr306Cys)" "" "0000680240" "00024178" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "0000691826" "00024178" "50" "8908" "0" "8908" "0" "c.8908dup" "r.(?)" "p.(Tyr2970LeufsTer3)" "" "0000691827" "00024178" "30" "4447" "0" "4447" "0" "c.4447G>A" "r.(?)" "p.(Asp1483Asn)" "" "0000691828" "00024178" "50" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Leu239Ser)" "" "0000725221" "00024178" "10" "8738" "0" "8738" "0" "c.8738G>A" "r.(?)" "p.(Ser2913Asn)" "" "0000725222" "00024178" "30" "6805" "0" "6805" "0" "c.6805C>T" "r.(?)" "p.(His2269Tyr)" "" "0000725223" "00024178" "10" "6038" "16" "6038" "16" "c.6038+16G>A" "r.(=)" "p.(=)" "" "0000725224" "00024178" "30" "4901" "0" "4901" "0" "c.4901A>C" "r.(?)" "p.(Lys1634Thr)" "" "0000725225" "00024178" "30" "4747" "0" "4747" "0" "c.4747G>A" "r.(?)" "p.(Ala1583Thr)" "" "0000725226" "00024178" "30" "4166" "-8" "4166" "-8" "c.4166-8C>A" "r.(=)" "p.(=)" "" "0000725227" "00024178" "10" "3394" "0" "3394" "0" "c.3394A>G" "r.(?)" "p.(Ile1132Val)" "" "0000725228" "00024178" "10" "2921" "0" "2921" "0" "c.2921G>A" "r.(?)" "p.(Arg974Lys)" "" "0000725229" "00024178" "30" "1392" "0" "1392" "0" "c.1392T>A" "r.(?)" "p.(Ala464=)" "" "0000725230" "00024178" "30" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Lys171Glu)" "" "0000725231" "00024178" "10" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153His)" "" "0000806822" "00024178" "10" "10470" "0" "10470" "0" "c.10470A>G" "r.(?)" "p.(Ala3490=)" "" "0000806823" "00024178" "10" "10446" "0" "10446" "0" "c.10446C>T" "r.(?)" "p.(Thr3482=)" "" "0000806824" "00024178" "30" "10002" "8" "10002" "8" "c.10002+8G>A" "r.(=)" "p.(=)" "" "0000806825" "00024178" "10" "9903" "0" "9903" "0" "c.9903A>G" "r.(?)" "p.(Gln3301=)" "" "0000806826" "00024178" "10" "9525" "0" "9525" "0" "c.9525T>C" "r.(?)" "p.(Ile3175=)" "" "0000806827" "00024178" "30" "9080" "0" "9080" "0" "c.9080A>G" "r.(?)" "p.(Asn3027Ser)" "" "0000806828" "00024178" "10" "8845" "-10" "8845" "-10" "c.8845-10del" "r.(=)" "p.(=)" "" "0000806829" "00024178" "30" "8655" "0" "8655" "0" "c.8655C>T" "r.(?)" "p.(Gly2885=)" "" "0000806830" "00024178" "30" "7683" "0" "7683" "0" "c.7683T>G" "r.(?)" "p.(Val2561=)" "" "0000806831" "00024178" "50" "7579" "0" "7579" "0" "c.7579T>A" "r.(?)" "p.(Leu2527Met)" "" "0000806832" "00024178" "30" "7317" "0" "7317" "0" "c.7317T>C" "r.(?)" "p.(Asn2439=)" "" "0000806833" "00024178" "30" "7241" "0" "7241" "0" "c.7241T>C" "r.(?)" "p.(Phe2414Ser)" "" "0000806834" "00024178" "10" "6964" "0" "6964" "0" "c.6964G>A" "r.(?)" "p.(Val2322Met)" "" "0000806835" "00024178" "30" "6888" "0" "6888" "0" "c.6888A>G" "r.(?)" "p.(Val2296=)" "" "0000806836" "00024178" "10" "6609" "14" "6609" "14" "c.6609+14A>G" "r.(=)" "p.(=)" "" "0000806837" "00024178" "30" "6294" "0" "6294" "0" "c.6294T>C" "r.(?)" "p.(Ser2098=)" "" "0000806838" "00024178" "30" "5901" "0" "5901" "0" "c.5901C>G" "r.(?)" "p.(Phe1967Leu)" "" "0000806839" "00024178" "90" "4836" "0" "4839" "0" "c.4836_4839del" "r.(?)" "p.(Cys1613Ilefs*20)" "" "0000806840" "00024178" "10" "4483" "0" "4483" "0" "c.4483A>G" "r.(?)" "p.(Ile1495Val)" "" "0000806841" "00024178" "10" "3905" "0" "3905" "0" "c.3905A>G" "r.(?)" "p.(Tyr1302Cys)" "" "0000806842" "00024178" "50" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Pro976Leu)" "" "0000806843" "00024178" "50" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Ser963Gly)" "" "0000806844" "00024178" "30" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Glu877Lys)" "" "0000806845" "00024178" "30" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Thr542=)" "" "0000854107" "00024178" "50" "7552" "0" "7552" "0" "c.7552C>T" "r.(?)" "p.(Pro2518Ser)" "" "0000854108" "00024178" "30" "6552" "0" "6552" "0" "c.6552T>C" "r.(?)" "p.(Cys2184=)" "" "0000854109" "00024178" "30" "5489" "0" "5489" "0" "c.5489T>C" "r.(?)" "p.(Ile1830Thr)" "" "0000854110" "00024178" "50" "4056" "3" "4056" "3" "c.4056+3A>C" "r.spl?" "p.?" "" "0000854111" "00024178" "50" "1846" "0" "1846" "0" "c.1846C>A" "r.(?)" "p.(Pro616Thr)" "" "0000854112" "00024178" "30" "1731" "0" "1731" "0" "c.1731G>A" "r.(?)" "p.(Ala577=)" "" "0000854113" "00024178" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Ala444Pro)" "" "0000854114" "00024178" "30" "738" "0" "738" "0" "c.738A>T" "r.(?)" "p.(Ile246=)" "" "0000863917" "00024178" "50" "3560" "0" "3560" "0" "c.3560G>C" "r.(?)" "p.(Cys1187Ser)" "" "0000863918" "00024178" "30" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Gly653Arg)" "" "0000863919" "00024178" "50" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Gly129=)" "" "0000930412" "00024178" "10" "4457" "-19" "4457" "-19" "c.4457-19dup" "r.(=)" "p.(=)" "" "0000967877" "00024178" "50" "6392" "0" "6392" "0" "c.6392C>T" "r.(?)" "p.(Ser2131Leu)" "" "0000981328" "00024178" "50" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Phe142=)" "" "0001001551" "00024178" "10" "8988" "0" "8988" "0" "c.8988A>T" "r.(?)" "p.(=)" "" "0001001552" "00024178" "10" "8366" "0" "8366" "0" "c.8366T>C" "r.(?)" "p.(Ile2789Thr)" "" "0001001553" "00024178" "30" "7139" "0" "7139" "0" "c.7139A>G" "r.(?)" "p.(His2380Arg)" "" "0001001554" "00024178" "30" "6469" "0" "6469" "0" "c.6469C>T" "r.(?)" "p.(Leu2157Phe)" "" "0001001555" "00024178" "50" "5162" "0" "5162" "0" "c.5162A>G" "r.(?)" "p.(Asn1721Ser)" "" "0001001556" "00024178" "10" "4362" "0" "4362" "0" "c.4362C>T" "r.(?)" "p.(=)" "" "0001001557" "00024178" "50" "448" "1" "448" "1" "c.448+1G>A" "r.spl?" "p.?" "" "0001040481" "00024178" "50" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ala448Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000065316" "0000096996" "0000065320" "0000096997" "0000065320" "0000096999" "0000065325" "0000097004" "0000065325" "0000097005" "0000165233" "0000368891"