### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS13A) # 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}}" "VPS13A" "vacuolar protein sorting 13 homolog A (S. cerevisiae)" "9" "q21" "unknown" "NG_008931.1" "UD_132118293676" "" "https://www.LOVD.nl/VPS13A" "" "1" "1908" "23230" "605978" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/VPS13A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-22 10:39:25" "00000" "2024-08-28 13:16:32" ## 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}}" "00023859" "VPS13A" "transcript variant A" "001" "NM_033305.2" "" "NP_150648.2" "" "" "" "-260" "11002" "9525" "79792361" "80032399" "00008" "2013-11-25 15:15:45" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01618" "CHAC" "choreoacanthocytosis (CHAC)" "AR" "200150" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-28 11:19:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VPS13A" "01618" ## Individuals ## Do not remove or alter this header ## ## Count = 83 "{{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}}" "00037338" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037339" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037340" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037341" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037342" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037343" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037344" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037345" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037346" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037347" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037348" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037349" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037350" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037351" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037352" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037353" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037354" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037355" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037356" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037357" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037358" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037359" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037360" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037361" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037362" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037363" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037364" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037365" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037366" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037367" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037368" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037369" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037370" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037371" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037372" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037373" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037374" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037375" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037376" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037377" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037378" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037379" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037380" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037381" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037382" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037383" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037384" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037385" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037386" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037387" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037388" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037389" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037390" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037391" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037392" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037393" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037394" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037395" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037396" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037397" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037398" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037399" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037400" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037401" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037402" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00154973" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00248472" "" "" "" "2" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "2-generation family, 2 affected brothers (deceased), unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "" "FamCHAC3" "00248473" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamCHAC6" "00248474" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC2" "00248475" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC1" "00248476" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC4" "00248477" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC5" "00248478" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC7" "00248479" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC8" "00248480" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC9" "00248481" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC10" "00248482" "" "" "" "1" "" "00006" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "" "" "0" "" "" "" "FamCHAC11" "00294885" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294886" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305253" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309951" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00326816" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "174468" "00411581" "" "" "" "1" "" "04336" "" "" "M" "no" "India" "" "" "" "" "Asian" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00037364" "00198" "00037367" "00198" "00037387" "00198" "00037398" "00198" "00037400" "00198" "00154973" "00198" "00248472" "01618" "00248473" "01618" "00248474" "01618" "00248475" "01618" "00248476" "01618" "00248477" "01618" "00248478" "01618" "00248479" "01618" "00248480" "01618" "00248481" "01618" "00248482" "01618" "00294885" "00198" "00294886" "00198" "00305253" "00198" "00309951" "00198" "00326816" "01618" "00411581" "01618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01618 ## Count = 19 "{{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}}" "0000127705" "00198" "00154973" "01807" "Unknown" "" "HP:0012013 (EEG with temporal focal spike waves)" "" "" "" "" "" "" "" "" "" "" "" "0000156891" "00198" "00037364" "01164" "Unknown" "" "suspected neuroacanthocytosis, dystonia of tongue and gullet" "" "" "" "" "" "" "" "" "" "neuroacanthocytosis?" "" "0000156892" "00198" "00037367" "01164" "Unknown" "" "suspected Chorea-acanthocytosis" "" "" "" "" "" "" "" "" "" "chorea acanthocytosis?" "" "0000156893" "00198" "00037387" "01164" "Unknown" "" "bulbar paralysis" "" "" "" "" "" "" "" "" "" "bulbar paralysis" "" "0000156894" "00198" "00037398" "01164" "Unknown" "" "Chorea-acanthocytosis" "" "" "" "" "" "" "" "" "" "chorea acanthocytosis" "" "0000156895" "00198" "00037400" "01164" "Unknown" "" "Chorea-acanthocytosis" "" "" "" "" "" "" "" "" "" "chorea acanthocytosis" "" "0000187462" "01618" "00248472" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187463" "01618" "00248473" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187464" "01618" "00248474" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187465" "01618" "00248475" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187466" "01618" "00248476" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187467" "01618" "00248477" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187468" "01618" "00248478" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187469" "01618" "00248479" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187470" "01618" "00248480" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187471" "01618" "00248481" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000187472" "01618" "00248482" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CHAC" "choreoacanthocytosis" "" "0000235268" "00198" "00309951" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Dysarthria (HP:0001260); Global developmental delay (HP:0001263); Chorea (HP:0002072)" "" "" "" "" "" "" "" "" "" "" "" "0000245280" "01618" "00326816" "01164" "Unknown" "29y" "(+) Chorea,(+) Incoordination,(+) Clumsiness,(+) Involuntary movements,(+) Craniofacial dystonia,(+) Bilateral tonic-clonic seizure with generalized onset,(+) Lingual dystonia,(+) Motor seizure" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 84 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037408" "00037338" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037409" "00037339" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037410" "00037340" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037411" "00037341" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037412" "00037342" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037413" "00037343" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037414" "00037344" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037415" "00037345" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037416" "00037346" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037417" "00037347" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037418" "00037348" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037419" "00037349" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037420" "00037350" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037421" "00037351" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037422" "00037352" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037423" "00037353" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037424" "00037354" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037425" "00037355" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037426" "00037356" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037427" "00037357" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037428" "00037358" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037429" "00037359" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037430" "00037360" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037431" "00037361" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037432" "00037362" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037433" "00037363" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037434" "00037364" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037435" "00037365" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037436" "00037366" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037437" "00037367" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037438" "00037368" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037439" "00037369" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037440" "00037370" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037441" "00037371" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037442" "00037372" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037443" "00037373" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037444" "00037374" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037445" "00037375" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037446" "00037376" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037447" "00037377" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037448" "00037378" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037449" "00037379" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037450" "00037380" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037451" "00037381" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037452" "00037382" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037453" "00037383" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037454" "00037384" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037455" "00037385" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037456" "00037386" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037457" "00037387" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037458" "00037388" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037459" "00037389" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037460" "00037390" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037461" "00037391" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037462" "00037392" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037463" "00037393" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037464" "00037394" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037465" "00037395" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037466" "00037396" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037467" "00037397" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037468" "00037398" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037469" "00037399" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037470" "00037400" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037471" "00037401" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037472" "00037402" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000155836" "00154973" "0" "01807" "01807" "2018-03-07 04:34:03" "" "" "SEQ" "DNA" "" "" "0000249576" "00248472" "1" "00006" "00006" "2019-07-24 11:13:25" "" "" "SEQ" "DNA" "" "" "0000249577" "00248473" "1" "00006" "00006" "2019-07-24 11:37:01" "" "" "SEQ" "DNA" "" "" "0000249578" "00248474" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249579" "00248475" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249580" "00248476" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249581" "00248477" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249582" "00248478" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249583" "00248479" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249584" "00248480" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249585" "00248481" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000249586" "00248482" "1" "00006" "00006" "2019-07-24 11:51:25" "" "" "SEQ" "DNA" "" "" "0000296053" "00294885" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296054" "00294886" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306382" "00305253" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311099" "00309951" "1" "01164" "01164" "2020-09-07 13:54:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000328030" "00326816" "1" "01164" "01164" "2021-01-15 15:25:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000412851" "00411581" "1" "04336" "04336" "2022-06-16 14:05:15" "" "" "SEQ-NG-IT" "DNA" "Blood" "" "0000412852" "00411581" "1" "04336" "04336" "2022-06-16 14:39:11" "04336" "2022-06-17 08:15:33" "SEQ" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{geneid}}" "0000037408" "VPS13A" "0000037409" "VPS13A" "0000037410" "VPS13A" "0000037411" "VPS13A" "0000037412" "VPS13A" "0000037413" "VPS13A" "0000037414" "VPS13A" "0000037415" "VPS13A" "0000037416" "VPS13A" "0000037417" "VPS13A" "0000037418" "VPS13A" "0000037419" "VPS13A" "0000037420" "VPS13A" "0000037421" "VPS13A" "0000037422" "VPS13A" "0000037423" "VPS13A" "0000037424" "VPS13A" "0000037425" "VPS13A" "0000037426" "VPS13A" "0000037427" "VPS13A" "0000037428" "VPS13A" "0000037429" "VPS13A" "0000037430" "VPS13A" "0000037431" "VPS13A" "0000037432" "VPS13A" "0000037433" "VPS13A" "0000037434" "VPS13A" "0000037435" "VPS13A" "0000037436" "VPS13A" "0000037437" "VPS13A" "0000037438" "VPS13A" "0000037439" "VPS13A" "0000037440" "VPS13A" "0000037441" "VPS13A" "0000037442" "VPS13A" "0000037443" "VPS13A" "0000037444" "VPS13A" "0000037445" "VPS13A" "0000037446" "VPS13A" "0000037447" "VPS13A" "0000037448" "VPS13A" "0000037449" "VPS13A" "0000037450" "VPS13A" "0000037451" "VPS13A" "0000037452" "VPS13A" "0000037453" "VPS13A" "0000037454" "VPS13A" "0000037455" "VPS13A" "0000037456" "VPS13A" "0000037457" "VPS13A" "0000037458" "VPS13A" "0000037459" "VPS13A" "0000037460" "VPS13A" "0000037461" "VPS13A" "0000037462" "VPS13A" "0000037463" "VPS13A" "0000037464" "VPS13A" "0000037465" "VPS13A" "0000037466" "VPS13A" "0000037467" "VPS13A" "0000037468" "VPS13A" "0000037469" "VPS13A" "0000037470" "VPS13A" "0000037471" "VPS13A" "0000037472" "VPS13A" "0000249576" "VPS13A" "0000249577" "VPS13A" "0000249578" "VPS13A" "0000249579" "VPS13A" "0000249580" "VPS13A" "0000249581" "VPS13A" "0000249582" "VPS13A" "0000249583" "VPS13A" "0000249584" "VPS13A" "0000249585" "VPS13A" "0000249586" "VPS13A" "0000328030" "VPS13A" "0000412852" "VPS13A" ## 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 = 340 "{{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}}" "0000064533" "1" "10" "9" "79966124" "79966124" "subst" "0" "01164" "VPS13A_000040" "g.79966124G>A" "" "" "" "" "" "Germline" "" "rs10491844" "0" "" "" "g.77351208G>A" "" "benign" "" "0000064534" "1" "50" "9" "79930413" "79930413" "subst" "0.000338047" "01164" "VPS13A_000024" "g.79930413A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77315497A>G" "" "VUS" "" "0000064535" "1" "10" "9" "79862390" "79862390" "subst" "0" "01164" "VPS13A_000006" "g.79862390A>G" "" "" "" "" "" "Germline" "" "rs78083157" "0" "" "" "g.77247474A>G" "" "benign" "" "0000064536" "1" "50" "9" "79955315" "79955316" "dup" "0" "01164" "VPS13A_000034" "g.79955315_79955316dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77340399_77340400dup" "" "VUS" "" "0000064537" "1" "10" "9" "79975661" "79975661" "subst" "0" "01164" "VPS13A_000044" "g.79975661A>G" "" "" "" "" "" "Germline" "" "rs117318023" "0" "" "" "g.77360745A>G" "" "benign" "" "0000064538" "1" "10" "9" "79972503" "79972503" "subst" "0" "01164" "VPS13A_000041" "g.79972503T>C" "" "" "" "" "" "Germline" "" "rs72746088" "0" "" "" "g.77357587T>C" "" "benign" "" "0000064539" "1" "50" "9" "79842278" "79842278" "subst" "0.00687768" "01164" "VPS13A_000032" "g.79842278A>G" "" "" "" "" "" "Germline" "" "rs139845549" "0" "" "" "g.77227362A>G" "" "VUS" "" "0000064540" "1" "10" "9" "79986015" "79986015" "subst" "0.0111322" "01164" "VPS13A_000049" "g.79986015A>G" "" "" "" "" "" "Germline" "" "rs17081163" "0" "" "" "g.77371099A>G" "" "benign" "" "0000064541" "1" "10" "9" "79960141" "79960141" "subst" "0" "01164" "VPS13A_000039" "g.79960141G>A" "" "" "" "" "" "Germline" "" "rs7035855" "0" "" "" "g.77345225G>A" "" "benign" "" "0000064542" "1" "10" "9" "79959015" "79959015" "subst" "0" "01164" "VPS13A_000035" "g.79959015A>G" "" "" "" "" "" "Germline" "" "rs7274022" "0" "" "" "g.77344099A>G" "" "benign" "" "0000064543" "1" "10" "9" "79955301" "79955301" "subst" "0.00968018" "01164" "VPS13A_000033" "g.79955301G>C" "" "" "" "" "" "Germline" "" "rs118019130" "0" "" "" "g.77340385G>C" "" "benign" "" "0000064544" "1" "10" "9" "79954545" "79954545" "subst" "0.168204" "01164" "VPS13A_000052" "g.79954545T>C" "" "" "" "" "" "Germline" "" "rs7025532" "0" "" "" "g.77339629T>C" "" "benign" "" "0000064545" "1" "50" "9" "79959795" "79959795" "subst" "0" "01164" "VPS13A_000037" "g.79959795T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77344879T>G" "" "VUS" "" "0000064546" "1" "10" "9" "79954410" "79954410" "subst" "0" "01164" "VPS13A_000051" "g.79954410G>T" "" "" "" "" "" "Germline" "" "rs55937672" "0" "" "" "g.77339494G>T" "" "benign" "" "0000064547" "1" "50" "9" "79841288" "79841288" "subst" "0" "01164" "VPS13A_000031" "g.79841288A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77226372A>G" "" "VUS" "" "0000064548" "1" "50" "9" "79862019" "79862019" "subst" "0" "01164" "VPS13A_000005" "g.79862019T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77247103T>C" "" "VUS" "" "0000064549" "1" "10" "9" "79930988" "79930988" "subst" "0" "01164" "VPS13A_000025" "g.79930988T>C" "" "" "" "" "" "Germline" "" "rs17339117" "0" "" "" "g.77316072T>C" "" "benign" "" "0000064550" "1" "90" "9" "79834914" "79834914" "subst" "8.12876E-6" "01164" "VPS13A_000061" "g.79834914C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77219998C>T" "" "pathogenic (recessive)" "" "0000064551" "1" "10" "9" "79954405" "79954405" "subst" "0" "01164" "VPS13A_000050" "g.79954405G>T" "" "" "" "" "" "Germline" "" "rs56156608" "0" "" "" "g.77339489G>T" "" "benign" "" "0000064552" "1" "90" "9" "79946942" "79946942" "subst" "0" "01164" "VPS13A_000057" "g.79946942C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77332026C>G" "" "pathogenic (recessive)" "" "0000064553" "1" "90" "9" "79996923" "79996923" "subst" "2.45126E-5" "01164" "VPS13A_000001" "g.79996923C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77382007C>T" "" "pathogenic (recessive)" "" "0000064554" "1" "90" "9" "79929532" "79929532" "dup" "0" "01164" "VPS13A_000023" "g.79929532dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77314616dup" "" "pathogenic (recessive)" "" "0000064555" "1" "90" "9" "79897061" "79897061" "del" "0" "01164" "VPS13A_000013" "g.79897061del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77282145del" "" "pathogenic (recessive)" "" "0000064556" "1" "10" "9" "79983083" "79983083" "subst" "0.0732763" "01164" "VPS13A_000045" "g.79983083G>C" "" "" "" "" "" "Germline" "" "rs72746094" "0" "" "" "g.77368167G>C" "" "benign" "" "0000064557" "1" "10" "9" "79999578" "79999580" "del" "0" "01164" "VPS13A_000003" "g.79999578_79999580del" "" "" "" "" "" "Germline" "" "rs10639069" "0" "" "" "g.77384662_77384664del" "" "benign" "" "0000064558" "1" "10" "9" "79984232" "79984232" "subst" "0.0724476" "01164" "VPS13A_000047" "g.79984232T>C" "" "" "" "" "" "Germline" "" "rs17340192" "0" "" "" "g.77369316T>C" "" "benign" "" "0000064559" "1" "50" "9" "79955271" "79955271" "subst" "0" "01164" "VPS13A_000054" "g.79955271A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77340355A>G" "" "VUS" "" "0000064560" "1" "50" "9" "79820775" "79820775" "subst" "0" "01164" "VPS13A_000060" "g.79820775G>A" "" "" "" "" "c.284-119G>A" "Germline" "" "" "0" "" "" "g.77205859G>A" "" "VUS" "" "0000064561" "1" "50" "9" "79936776" "79936781" "del" "0" "01164" "VPS13A_000062" "g.79936776_79936781del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77321860_77321865del" "" "VUS" "" "0000064562" "1" "90" "9" "79959983" "79959983" "subst" "0" "01164" "VPS13A_000038" "g.79959983T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77345067T>G" "" "pathogenic (recessive)" "" "0000064563" "1" "50" "9" "79975449" "79975449" "subst" "0" "01164" "VPS13A_000043" "g.79975449C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77360533C>G" "" "VUS" "" "0000064564" "1" "10" "9" "79997124" "79997124" "subst" "0" "01164" "VPS13A_000002" "g.79997124T>C" "" "" "" "" "" "Germline" "" "rs2571465" "0" "" "" "g.77382208T>C" "" "benign" "" "0000064565" "1" "50" "9" "79862019" "79862019" "subst" "0" "01164" "VPS13A_000005" "g.79862019T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77247103T>C" "" "VUS" "" "0000064566" "1" "90" "9" "79972668" "79972668" "subst" "4.06385E-6" "01164" "VPS13A_000042" "g.79972668C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77357752C>T" "" "pathogenic (recessive)" "" "0000064567" "1" "10" "9" "80020874" "80020874" "subst" "0.00963249" "01164" "VPS13A_000004" "g.80020874C>A" "" "" "" "" "" "Germline" "" "rs117983287" "0" "" "" "g.77405958C>A" "" "benign" "" "0000064568" "1" "50" "9" "79985610" "79985610" "dup" "0" "01164" "VPS13A_000048" "g.79985610dup" "" "" "" "" "c.8907+116dupT" "Germline" "" "" "0" "" "" "g.77370694dup" "" "VUS" "" "0000064569" "1" "10" "9" "79959095" "79959095" "subst" "0.00152723" "01164" "VPS13A_000036" "g.79959095T>C" "" "" "" "" "" "Germline" "" "rs139753431" "0" "" "" "g.77344179T>C" "" "benign" "" "0000064570" "1" "10" "9" "79936457" "79936457" "subst" "0.00153925" "01164" "VPS13A_000063" "g.79936457A>G" "" "" "" "" "" "Germline" "" "rs146280301" "0" "" "" "g.77321541A>G" "" "benign" "" "0000064571" "1" "50" "9" "79935969" "79935969" "subst" "0" "01164" "VPS13A_000027" "g.79935969T>C" "" "" "" "" "" "Germline" "" "rs140030316" "0" "" "" "g.77321053T>C" "" "VUS" "" "0000064572" "1" "10" "9" "79841043" "79841043" "subst" "0" "01164" "VPS13A_000030" "g.79841043T>C" "" "" "" "" "" "Germline" "" "rs55943354" "0" "" "" "g.77226127T>C" "" "benign" "" "0000064573" "1" "10" "9" "79862502" "79862502" "subst" "0" "01164" "VPS13A_000007" "g.79862502T>C" "" "" "" "" "" "Germline" "" "rs10115162" "0" "" "" "g.77247586T>C" "" "benign" "" "0000064574" "1" "10" "9" "79984149" "79984149" "subst" "0" "01164" "VPS13A_000046" "g.79984149A>C" "" "" "" "" "" "Germline" "" "rs73449984" "0" "" "" "g.77369233A>C" "" "benign" "" "0000064575" "1" "10" "9" "79952468" "79952468" "subst" "0.1049" "01164" "VPS13A_000058" "g.79952468A>T" "" "" "" "" "" "Germline" "" "rs12348097" "0" "" "" "g.77337552A>T" "" "benign" "" "0000064576" "1" "10" "9" "79867288" "79867288" "subst" "0.0899798" "01164" "VPS13A_000010" "g.79867288T>C" "" "" "" "" "" "Germline" "" "rs12335955" "0" "" "" "g.77252372T>C" "" "benign" "" "0000064577" "1" "10" "9" "79888015" "79888015" "subst" "0" "01164" "VPS13A_000011" "g.79888015A>G" "" "" "" "" "" "Germline" "" "rs7244218" "0" "" "" "g.77273099A>G" "" "benign" "" "0000064578" "1" "50" "9" "79917816" "79917816" "subst" "0.0015296" "01164" "VPS13A_000019" "g.79917816T>C" "" "" "" "" "" "Germline" "" "rs145835861" "0" "" "" "g.77302900T>C" "" "VUS" "" "0000064579" "1" "10" "9" "79865213" "79865213" "subst" "0" "01164" "VPS13A_000009" "g.79865213T>G" "" "" "" "" "" "Germline" "" "rs116148204" "0" "" "" "g.77250297T>G" "" "benign" "" "0000064580" "1" "10" "9" "79938069" "79938069" "subst" "0.00919761" "01164" "VPS13A_000056" "g.79938069G>A" "" "" "" "" "" "Germline" "" "rs41289969" "0" "" "" "g.77323153G>A" "" "benign" "" "0000064581" "1" "10" "9" "79835102" "79835102" "subst" "0" "01164" "VPS13A_000059" "g.79835102T>A" "" "" "" "" "" "Germline" "" "rs3802498" "0" "" "" "g.77220186T>A" "" "benign" "" "0000064582" "1" "50" "9" "79895401" "79895401" "del" "0" "01164" "VPS13A_000012" "g.79895401del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77280485del" "" "VUS" "" "0000064583" "1" "10" "9" "79936415" "79936415" "subst" "0.0718676" "01164" "VPS13A_000028" "g.79936415A>G" "" "" "" "" "" "Germline" "" "rs17423984" "0" "" "" "g.77321499A>G" "" "benign" "" "0000064584" "1" "10" "9" "79922839" "79922839" "subst" "0.558345" "01164" "VPS13A_000020" "g.79922839A>G" "" "" "" "" "" "Germline" "" "rs2275549" "0" "" "" "g.77307923A>G" "" "benign" "" "0000064585" "1" "10" "9" "79922855" "79922855" "del" "0" "01164" "VPS13A_000021" "g.79922855del" "" "" "" "" "" "Germline" "" "rs3216012" "0" "" "" "g.77307939del" "" "benign" "" "0000064586" "1" "10" "9" "79911079" "79911079" "subst" "0" "01164" "VPS13A_000018" "g.79911079A>G" "" "" "" "" "" "Germline" "" "rs72744282" "0" "" "" "g.77296163A>G" "" "benign" "" "0000064587" "1" "10" "9" "79835177" "79835177" "subst" "0.0678746" "01164" "VPS13A_000029" "g.79835177A>C" "" "" "" "" "" "Germline" "" "rs72742584" "0" "" "" "g.77220261A>C" "" "benign" "" "0000064588" "1" "90" "9" "79954659" "79954659" "subst" "8.12803E-6" "01164" "VPS13A_000053" "g.79954659C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77339743C>A" "" "pathogenic (recessive)" "" "0000064589" "1" "10" "9" "79938036" "79938036" "subst" "0.00360664" "01164" "VPS13A_000055" "g.79938036C>T" "" "" "" "" "" "Germline" "" "rs149694033" "0" "" "" "g.77323120C>T" "" "benign" "" "0000064590" "1" "10" "9" "79897117" "79897117" "subst" "0.0898522" "01164" "VPS13A_000014" "g.79897117G>A" "" "" "" "" "" "Germline" "" "rs11145366" "0" "" "" "g.77282201G>A" "" "benign" "" "0000064591" "1" "10" "9" "79910407" "79910407" "subst" "0" "01164" "VPS13A_000016" "g.79910407A>G" "" "" "" "" "" "Germline" "" "rs1317305" "0" "" "" "g.77295491A>G" "" "benign" "" "0000064592" "1" "10" "9" "79910420" "79910420" "subst" "0.00918227" "01164" "VPS13A_000017" "g.79910420A>G" "" "" "" "" "" "Germline" "" "rs41289963" "0" "" "" "g.77295504A>G" "" "benign" "" "0000064593" "1" "10" "9" "79835177" "79835177" "subst" "0.0678746" "01164" "VPS13A_000029" "g.79835177A>C" "" "" "" "" "" "Germline" "" "rs72742584" "0" "" "" "g.77220261A>C" "" "benign" "" "0000064594" "1" "10" "9" "79910218" "79910218" "subst" "0" "01164" "VPS13A_000015" "g.79910218T>C" "" "" "" "" "" "Germline" "" "rs1317306" "0" "" "" "g.77295302T>C" "" "benign" "" "0000064595" "1" "90" "9" "79928955" "79928959" "delins" "0" "01164" "VPS13A_000022" "g.79928955_79928959delinsC" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77314039_77314043delinsC" "" "pathogenic (recessive)" "" "0000064596" "1" "10" "9" "79865187" "79865187" "subst" "0.181698" "01164" "VPS13A_000008" "g.79865187G>A" "" "" "" "" "" "Germline" "" "rs2021998" "0" "" "" "g.77250271G>A" "" "benign" "" "0000064597" "1" "50" "9" "79934531" "79934531" "subst" "8.13935E-6" "01164" "VPS13A_000026" "g.79934531T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77319615T>C" "" "VUS" "" "0000248090" "0" "30" "9" "79931219" "79931219" "subst" "0.00459077" "02325" "VPS13A_000115" "g.79931219A>G" "" "" "" "VPS13A(NM_033305.2):c.4760A>G (p.Y1587C), VPS13A(NM_033305.3):c.4760A>G (p.Y1587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316303A>G" "" "likely benign" "" "0000248126" "0" "30" "9" "79968361" "79968361" "subst" "0.00163594" "02325" "VPS13A_000135" "g.79968361A>G" "" "" "" "VPS13A(NM_033305.2):c.7456A>G (p.I2486V), VPS13A(NM_033305.3):c.7456A>G (p.I2486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353445A>G" "" "likely benign" "" "0000248129" "0" "30" "9" "79834890" "79834890" "subst" "0.0024187" "02325" "VPS13A_000076" "g.79834890A>G" "" "" "" "VPS13A(NM_033305.2):c.775A>G (p.N259D), VPS13A(NM_033305.3):c.775A>G (p.N259D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77219974A>G" "" "likely benign" "" "0000248306" "0" "10" "9" "79986057" "79986057" "subst" "0.455232" "02325" "VPS13A_000146" "g.79986057A>G" "" "" "" "VPS13A(NM_033305.3):c.9069A>G (p.G3023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77371141A>G" "" "benign" "" "0000248347" "0" "30" "9" "80022434" "80022434" "subst" "0.00537884" "02325" "VPS13A_000155" "g.80022434A>C" "" "" "" "VPS13A(NM_033305.3):c.9400-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77407518A>C" "" "likely benign" "" "0000249136" "0" "10" "9" "79922855" "79922855" "dup" "0" "02325" "VPS13A_000109" "g.79922855dup" "" "" "" "VPS13A(NM_001018037.2):c.3844-6dupT, VPS13A(NM_033305.3):c.3961-5delAinsTA, VPS13A(NM_033305.3):c.3961-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77307939dup" "" "benign" "" "0000249137" "0" "10" "9" "79954424" "79954424" "dup" "0" "02325" "VPS13A_000160" "g.79954424dup" "" "" "" "VPS13A(NM_033305.3):c.6379-7delAinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339508dup" "" "benign" "" "0000249438" "0" "30" "9" "79955413" "79955413" "subst" "4.0661E-5" "02325" "VPS13A_000131" "g.79955413A>G" "" "" "" "VPS13A(NM_033305.3):c.6973A>G (p.I2325V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77340497A>G" "" "likely benign" "" "0000249441" "0" "30" "9" "79980399" "79980399" "subst" "8.14352E-6" "02325" "VPS13A_000143" "g.79980399A>G" "" "" "" "VPS13A(NM_033305.3):c.8235A>G (p.I2745M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77365483A>G" "" "likely benign" "" "0000249548" "0" "30" "9" "79895060" "79895060" "subst" "0.00028581" "02325" "VPS13A_000100" "g.79895060A>T" "" "" "" "VPS13A(NM_033305.3):c.2825-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77280144A>T" "" "likely benign" "" "0000249936" "0" "30" "9" "79980392" "79980392" "subst" "0.00116903" "02329" "VPS13A_000142" "g.79980392A>C" "" "" "" "VPS13A(NM_033305.2):c.8228A>C (p.K2743T), VPS13A(NM_033305.3):c.8228A>C (p.K2743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77365476A>C" "" "likely benign" "" "0000249965" "0" "10" "9" "79931219" "79931219" "subst" "0.00459077" "02329" "VPS13A_000115" "g.79931219A>G" "" "" "" "VPS13A(NM_033305.2):c.4760A>G (p.Y1587C), VPS13A(NM_033305.3):c.4760A>G (p.Y1587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316303A>G" "" "benign" "" "0000250041" "0" "10" "9" "79986057" "79986057" "subst" "0.455232" "02329" "VPS13A_000146" "g.79986057A>G" "" "" "" "VPS13A(NM_033305.3):c.9069A>G (p.G3023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77371141A>G" "" "benign" "" "0000250111" "0" "10" "9" "79936415" "79936415" "subst" "0.0718676" "02329" "VPS13A_000028" "g.79936415A>G" "" "" "" "VPS13A(NM_033305.3):c.5583A>G (p.T1861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77321499A>G" "" "benign" "" "0000250224" "0" "10" "9" "79835177" "79835177" "subst" "0.0678746" "02329" "VPS13A_000029" "g.79835177A>C" "" "" "" "VPS13A(NM_033305.3):c.883-16A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77220261A>C" "" "benign" "" "0000250225" "0" "10" "9" "79952468" "79952468" "subst" "0.1049" "02329" "VPS13A_000058" "g.79952468A>T" "" "" "" "VPS13A(NM_033305.3):c.6378+15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77337552A>T" "" "benign" "" "0000250255" "0" "10" "9" "80022434" "80022434" "subst" "0.00537884" "02329" "VPS13A_000155" "g.80022434A>C" "" "" "" "VPS13A(NM_033305.3):c.9400-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77407518A>C" "" "benign" "" "0000250300" "0" "30" "9" "79825558" "79825558" "subst" "4.06511E-6" "02329" "VPS13A_000071" "g.79825558A>G" "" "" "" "VPS13A(NM_033305.3):c.522A>G (p.S174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77210642A>G" "" "likely benign" "" "0000250301" "0" "30" "9" "79836131" "79836131" "subst" "0.0166163" "02329" "VPS13A_000082" "g.79836131A>G" "" "" "" "VPS13A(NM_033305.3):c.1020A>G (p.E340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77221215A>G" "" "likely benign" "" "0000250302" "0" "30" "9" "79840850" "79840850" "subst" "0" "02329" "VPS13A_000083" "g.79840850A>G" "" "" "" "VPS13A(NM_033305.3):c.1170A>G (p.E390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77225934A>G" "" "likely benign" "" "0000250303" "0" "30" "9" "79875104" "79875104" "subst" "0.00323965" "02329" "VPS13A_000093" "g.79875104A>G" "" "" "" "VPS13A(NM_033305.3):c.2391A>G (p.P797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77260188A>G" "" "likely benign" "" "0000250304" "0" "30" "9" "79888222" "79888222" "subst" "1.63264E-5" "02329" "VPS13A_000094" "g.79888222A>G" "" "" "" "VPS13A(NM_033305.3):c.2454A>G (p.T818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77273306A>G" "" "likely benign" "" "0000250305" "0" "30" "9" "79888264" "79888264" "subst" "1.64E-5" "02329" "VPS13A_000095" "g.79888264A>T" "" "" "" "VPS13A(NM_033305.2):c.2496A>T (p.P832=), VPS13A(NM_033305.3):c.2496A>T (p.P832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77273348A>T" "" "likely benign" "" "0000250306" "0" "10" "9" "79891031" "79891031" "subst" "0.0105277" "02329" "VPS13A_000099" "g.79891031A>G" "" "" "" "VPS13A(NM_033305.3):c.2718A>G (p.V906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77276115A>G" "" "benign" "" "0000250307" "0" "10" "9" "79986015" "79986015" "subst" "0.0111322" "02329" "VPS13A_000049" "g.79986015A>G" "" "" "" "VPS13A(NM_033305.3):c.9027A>G (p.P3009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77371099A>G" "" "benign" "" "0000250337" "0" "30" "9" "79954463" "79954463" "subst" "0.00127386" "02329" "VPS13A_000126" "g.79954463A>G" "" "" "" "VPS13A(NM_033305.2):c.6410A>G (p.E2137G), VPS13A(NM_033305.3):c.6410A>G (p.E2137G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339547A>G" "" "likely benign" "" "0000250340" "0" "30" "9" "79875082" "79875082" "subst" "1.21935E-5" "02329" "VPS13A_000092" "g.79875082A>G" "" "" "" "VPS13A(NM_033305.3):c.2369A>G (p.E790G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77260166A>G" "" "likely benign" "" "0000250448" "0" "10" "9" "79896855" "79896855" "subst" "0.0108324" "02329" "VPS13A_000101" "g.79896855A>G" "" "" "" "VPS13A(NM_033305.3):c.2964+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77281939A>G" "" "benign" "" "0000250449" "0" "10" "9" "79954425" "79954425" "subst" "0" "02329" "VPS13A_000125" "g.79954425A>T" "" "" "" "VPS13A(NM_033305.3):c.6379-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339509A>T" "" "benign" "" "0000250450" "0" "30" "9" "80022432" "80022432" "subst" "0" "02329" "VPS13A_000154" "g.80022432A>C" "" "" "" "VPS13A(NM_033305.3):c.9400-17A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77407516A>C" "" "likely benign" "" "0000250540" "0" "50" "9" "79824429" "79824429" "subst" "4.1132E-6" "02329" "VPS13A_000069" "g.79824429A>G" "" "" "" "VPS13A(NM_033305.3):c.476A>G (p.H159R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77209513A>G" "" "VUS" "" "0000253160" "0" "10" "9" "79980392" "79980392" "subst" "0.00116903" "01943" "VPS13A_000142" "g.79980392A>C" "" "" "" "VPS13A(NM_033305.2):c.8228A>C (p.K2743T), VPS13A(NM_033305.3):c.8228A>C (p.K2743T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77365476A>C" "" "benign" "" "0000254056" "0" "30" "9" "79931219" "79931219" "subst" "0.00459077" "01943" "VPS13A_000115" "g.79931219A>G" "" "" "" "VPS13A(NM_033305.2):c.4760A>G (p.Y1587C), VPS13A(NM_033305.3):c.4760A>G (p.Y1587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316303A>G" "" "likely benign" "" "0000254116" "0" "30" "9" "79968361" "79968361" "subst" "0.00163594" "01943" "VPS13A_000135" "g.79968361A>G" "" "" "" "VPS13A(NM_033305.2):c.7456A>G (p.I2486V), VPS13A(NM_033305.3):c.7456A>G (p.I2486V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353445A>G" "" "likely benign" "" "0000254119" "0" "30" "9" "79834890" "79834890" "subst" "0.0024187" "01943" "VPS13A_000076" "g.79834890A>G" "" "" "" "VPS13A(NM_033305.2):c.775A>G (p.N259D), VPS13A(NM_033305.3):c.775A>G (p.N259D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77219974A>G" "" "likely benign" "" "0000254486" "0" "30" "9" "79910464" "79910464" "subst" "8.2335E-6" "01943" "VPS13A_000105" "g.79910464A>G" "" "" "" "VPS13A(NM_033305.2):c.3514A>G (p.I1172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77295548A>G" "" "likely benign" "" "0000254946" "0" "30" "9" "79975486" "79975486" "subst" "2.03417E-5" "01943" "VPS13A_000140" "g.79975486A>C" "" "" "" "VPS13A(NM_033305.2):c.8140A>C (p.R2714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77360570A>C" "" "likely benign" "" "0000255919" "0" "50" "9" "79971749" "79971749" "subst" "0" "01943" "VPS13A_000138" "g.79971749A>T" "" "" "" "VPS13A(NM_033305.2):c.7772A>T (p.E2591V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77356833A>T" "" "VUS" "" "0000256568" "0" "50" "9" "79865115" "79865115" "subst" "0" "01943" "VPS13A_000159" "g.79865115A>C" "" "" "" "VPS13A(NM_033305.2):c.2140A>C (p.T714P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77250199A>C" "" "VUS" "" "0000312999" "0" "10" "9" "79852910" "79852910" "dup" "0" "02325" "VPS13A_000086" "g.79852910dup" "" "" "" "VPS13A(NM_033305.3):c.1596-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77237994dup" "" "benign" "" "0000313000" "0" "30" "9" "79853080" "79853080" "subst" "0.0019189" "02325" "VPS13A_000087" "g.79853080T>C" "" "" "" "VPS13A(NM_033305.2):c.1758T>C (p.A586=), VPS13A(NM_033305.3):c.1758T>C (p.A586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77238164T>C" "" "likely benign" "" "0000313001" "0" "10" "9" "79820213" "79820213" "dup" "0" "02325" "VPS13A_000065" "g.79820213dup" "" "" "" "VPS13A(NM_033305.3):c.188-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205297dup" "" "benign" "" "0000313002" "0" "30" "9" "79862319" "79862319" "subst" "0.00449018" "02325" "VPS13A_000088" "g.79862319C>A" "" "" "" "VPS13A(NM_033305.3):c.2037+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77247403C>A" "" "likely benign" "" "0000313003" "0" "30" "9" "79865158" "79865158" "subst" "0.0012708" "02325" "VPS13A_000089" "g.79865158T>C" "" "" "" "VPS13A(NM_033305.3):c.2170+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77250242T>C" "" "likely benign" "" "0000313004" "0" "50" "9" "79820261" "79820261" "subst" "0" "02325" "VPS13A_000066" "g.79820261C>A" "" "" "" "VPS13A(NM_033305.3):c.220C>A (p.L74I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77205345C>A" "" "VUS" "" "0000313005" "0" "30" "9" "79890579" "79890579" "subst" "0.000532984" "02325" "VPS13A_000097" "g.79890579C>T" "" "" "" "VPS13A(NM_033305.3):c.2667+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77275663C>T" "" "likely benign" "" "0000313006" "0" "30" "9" "79898266" "79898266" "del" "0" "02325" "VPS13A_000103" "g.79898266del" "" "" "" "VPS13A(NM_033305.3):c.3119-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77283350del" "" "likely benign" "" "0000313007" "0" "30" "9" "79910550" "79910550" "subst" "7.72804E-5" "02325" "VPS13A_000106" "g.79910550C>T" "" "" "" "VPS13A(NM_033305.3):c.3600C>T (p.L1200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77295634C>T" "" "likely benign" "" "0000313008" "0" "30" "9" "79821001" "79821010" "del" "0" "02325" "VPS13A_000068" "g.79821001_79821010del" "" "" "" "VPS13A(NM_033305.3):c.385+6_385+15delGAAAACAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77206085_77206094del" "" "likely benign" "" "0000313009" "0" "30" "9" "79931101" "79931101" "subst" "0.00204563" "02325" "VPS13A_000113" "g.79931101G>A" "" "" "" "VPS13A(NM_033305.2):c.4642G>A (p.E1548K), VPS13A(NM_033305.3):c.4642G>A (p.E1548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316185G>A" "" "likely benign" "" "0000313010" "0" "30" "9" "79936108" "79936108" "subst" "0.000379883" "02325" "VPS13A_000118" "g.79936108C>T" "" "" "" "VPS13A(NM_033305.3):c.5439C>T (p.A1813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77321192C>T" "" "likely benign" "" "0000313011" "0" "30" "9" "79938036" "79938036" "subst" "0.00360664" "02325" "VPS13A_000055" "g.79938036C>T" "" "" "" "VPS13A(NM_001018037.1):c.5767C>T (p.(Arg1923Cys)), VPS13A(NM_033305.2):c.5884C>T (p.R1962C), VPS13A(NM_033305.3):c.5884C>T (p.R1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77323120C>T" "" "likely benign" "" "0000313012" "0" "50" "9" "79827939" "79827939" "subst" "1.21966E-5" "02325" "VPS13A_000072" "g.79827939C>T" "" "" "" "VPS13A(NM_033305.3):c.610C>T (p.R204C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213023C>T" "" "VUS" "" "0000313013" "0" "30" "9" "79954415" "79954415" "subst" "0" "02325" "VPS13A_000124" "g.79954415T>G" "" "" "" "VPS13A(NM_033305.3):c.6379-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339499T>G" "" "likely benign" "" "0000313014" "0" "10" "9" "79954545" "79954545" "subst" "0.168204" "02325" "VPS13A_000052" "g.79954545T>C" "" "" "" "VPS13A(NM_033305.3):c.6492T>C (p.D2164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339629T>C" "" "benign" "" "0000313015" "0" "30" "9" "79954743" "79954743" "subst" "0.000843789" "02325" "VPS13A_000128" "g.79954743C>T" "" "" "" "VPS13A(NM_033305.2):c.6690C>T (p.D2230=), VPS13A(NM_033305.3):c.6690C>T (p.D2230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339827C>T" "" "likely benign" "" "0000313016" "0" "30" "9" "79955301" "79955301" "subst" "0.00968018" "02325" "VPS13A_000033" "g.79955301G>C" "" "" "" "VPS13A(NM_033305.3):c.6880-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77340385G>C" "" "likely benign" "" "0000313017" "0" "10" "9" "79955314" "79955314" "dup" "0" "02325" "VPS13A_000130" "g.79955314dup" "" "" "" "VPS13A(NM_001018037.2):c.6763-6dupT, VPS13A(NM_033305.3):c.6880-5delCinsTC, VPS13A(NM_033305.3):c.6880-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77340398dup" "" "benign" "" "0000313019" "0" "30" "9" "79968362" "79968362" "subst" "0.00150975" "02325" "VPS13A_000136" "g.79968362T>C" "" "" "" "VPS13A(NM_033305.3):c.7457T>C (p.I2486T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353446T>C" "" "likely benign" "" "0000313020" "0" "30" "9" "79985181" "79985181" "subst" "0.00631507" "02325" "VPS13A_000145" "g.79985181C>T" "" "" "" "VPS13A(NM_033305.3):c.8676C>T (p.I2892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77370265C>T" "" "likely benign" "" "0000313021" "0" "50" "9" "79999566" "79999580" "del" "0" "02325" "VPS13A_000150" "g.79999566_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9255_9269delTGATGATGATGATGA (p.D3085_D3089del), VPS13A(NM_015186.4):c.9255_9269delTGATGATGATGATGA (p.D3085_D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77384650_77384664del" "" "VUS" "" "0000313022" "0" "10" "9" "79999578" "79999580" "del" "0" "02325" "VPS13A_000003" "g.79999578_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9267_9269delTGA (p.D3089del), VPS13A(NM_015186.4):c.9267_9269delTGA (p.D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77384662_77384664del" "" "benign" "" "0000313024" "0" "30" "9" "80020874" "80020874" "subst" "0.00963249" "02325" "VPS13A_000004" "g.80020874C>A" "" "" "" "VPS13A(NM_033305.2):c.9370C>A (p.(His3124Asn)), VPS13A(NM_033305.3):c.9370C>A (p.H3124N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405958C>A" "" "likely benign" "" "0000313025" "0" "10" "9" "79835327" "79835327" "dup" "0" "02325" "VPS13A_000078" "g.79835327dup" "" "" "" "VPS13A(NM_001018037.2):c.989+28dupT, VPS13A(NM_033305.3):c.989+28dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77220411dup" "" "benign" "" "0000313645" "0" "30" "9" "79836122" "79836122" "subst" "1.62981E-5" "02329" "VPS13A_000081" "g.79836122C>T" "" "" "" "VPS13A(NM_033305.3):c.1011C>T (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77221206C>T" "" "likely benign" "" "0000313646" "0" "30" "9" "79843113" "79843113" "subst" "0.000305966" "02329" "VPS13A_000084" "g.79843113C>T" "" "" "" "VPS13A(NM_033305.2):c.1528C>T (p.L510=), VPS13A(NM_033305.3):c.1528C>T (p.L510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77228197C>T" "" "likely benign" "" "0000313647" "0" "10" "9" "79852910" "79852910" "del" "0" "02329" "VPS13A_000085" "g.79852910del" "" "" "" "VPS13A(NM_033305.3):c.1596-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77237994del" "" "benign" "" "0000313648" "0" "30" "9" "79853080" "79853080" "subst" "0.0019189" "02329" "VPS13A_000087" "g.79853080T>C" "" "" "" "VPS13A(NM_033305.2):c.1758T>C (p.A586=), VPS13A(NM_033305.3):c.1758T>C (p.A586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77238164T>C" "" "likely benign" "" "0000313649" "0" "10" "9" "79862319" "79862319" "subst" "0.00449018" "02329" "VPS13A_000088" "g.79862319C>A" "" "" "" "VPS13A(NM_033305.3):c.2037+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77247403C>A" "" "benign" "" "0000313650" "0" "10" "9" "79867288" "79867288" "subst" "0.0899798" "02329" "VPS13A_000010" "g.79867288T>C" "" "" "" "VPS13A(NM_001018037.2):c.2288+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77252372T>C" "" "benign" "" "0000313651" "0" "30" "9" "79874986" "79874986" "del" "0" "02329" "VPS13A_000090" "g.79874986del" "" "" "" "VPS13A(NM_033305.3):c.2289-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77260070del" "" "likely benign" "" "0000313652" "0" "30" "9" "79890579" "79890579" "subst" "0.000532984" "02329" "VPS13A_000097" "g.79890579C>T" "" "" "" "VPS13A(NM_033305.3):c.2667+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77275663C>T" "" "likely benign" "" "0000313653" "0" "10" "9" "79890580" "79890580" "subst" "0.00269835" "02329" "VPS13A_000098" "g.79890580G>A" "" "" "" "VPS13A(NM_033305.3):c.2667+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77275664G>A" "" "benign" "" "0000313654" "0" "10" "9" "79897117" "79897117" "subst" "0.0898522" "02329" "VPS13A_000014" "g.79897117G>A" "" "" "" "VPS13A(NM_033305.2):c.3045G>A (p.P1015=), VPS13A(NM_033305.3):c.3045G>A (p.P1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77282201G>A" "" "benign" "" "0000313655" "0" "10" "9" "79897180" "79897180" "subst" "0.0105691" "02329" "VPS13A_000102" "g.79897180T>C" "" "" "" "VPS13A(NM_033305.3):c.3108T>C (p.I1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77282264T>C" "" "benign" "" "0000313656" "0" "30" "9" "79908440" "79908444" "del" "0" "02329" "VPS13A_000104" "g.79908440_79908444del" "" "" "" "VPS13A(NM_033305.3):c.3507+16_3507+20delAATTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77293524_77293528del" "" "likely benign" "" "0000313657" "0" "10" "9" "79910595" "79910595" "subst" "0.00632453" "02329" "VPS13A_000107" "g.79910595C>A" "" "" "" "VPS13A(NM_033305.2):c.3645C>A (p.A1215=), VPS13A(NM_033305.3):c.3645C>A (p.A1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77295679C>A" "" "benign" "" "0000313658" "0" "30" "9" "79917816" "79917816" "subst" "0.0015296" "02329" "VPS13A_000019" "g.79917816T>C" "" "" "" "VPS13A(NM_033305.3):c.3813-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77302900T>C" "" "likely benign" "" "0000313659" "0" "30" "9" "79821001" "79821010" "del" "0" "02329" "VPS13A_000067" "g.79821001_79821010del" "" "" "" "VPS13A(NM_033305.3):c.385+6_385+15delGAAAACAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77206085_77206094del" "" "likely benign" "" "0000313660" "0" "10" "9" "79922855" "79922855" "dup" "0" "02329" "VPS13A_000109" "g.79922855dup" "" "" "" "VPS13A(NM_001018037.2):c.3844-6dupT, VPS13A(NM_033305.3):c.3961-5delAinsTA, VPS13A(NM_033305.3):c.3961-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77307939dup" "" "benign" "" "0000313661" "0" "10" "9" "79922855" "79922855" "del" "0" "02329" "VPS13A_000110" "g.79922855del" "" "" "" "VPS13A(NM_033305.3):c.3961-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77307939del" "" "benign" "" "0000313663" "0" "30" "9" "79930225" "79930225" "subst" "0.0163566" "02329" "VPS13A_000112" "g.79930225G>A" "" "" "" "VPS13A(NM_033305.3):c.4469G>A (p.R1490K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77315309G>A" "" "likely benign" "" "0000313664" "0" "30" "9" "79931101" "79931101" "subst" "0.00204563" "02329" "VPS13A_000113" "g.79931101G>A" "" "" "" "VPS13A(NM_033305.2):c.4642G>A (p.E1548K), VPS13A(NM_033305.3):c.4642G>A (p.E1548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316185G>A" "" "likely benign" "" "0000313665" "0" "30" "9" "79931161" "79931161" "subst" "2.44045E-5" "02329" "VPS13A_000114" "g.79931161G>A" "" "" "" "VPS13A(NM_033305.2):c.4702G>A (p.D1568N), VPS13A(NM_033305.3):c.4702G>A (p.D1568N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316245G>A" "" "likely benign" "" "0000313666" "0" "30" "9" "79825552" "79825552" "subst" "0.00031712" "02329" "VPS13A_000070" "g.79825552G>A" "" "" "" "VPS13A(NM_033305.2):c.516G>A (p.P172=), VPS13A(NM_033305.3):c.516G>A (p.P172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77210636G>A" "" "likely benign" "" "0000313667" "0" "30" "9" "79933486" "79933486" "subst" "0.00100568" "02329" "VPS13A_000117" "g.79933486G>T" "" "" "" "VPS13A(NM_033305.2):c.5292G>T (p.L1764=), VPS13A(NM_033305.3):c.5292G>T (p.L1764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77318570G>T" "" "likely benign" "" "0000313668" "0" "30" "9" "79936579" "79936579" "subst" "0.003213" "02329" "VPS13A_000120" "g.79936579G>A" "" "" "" "VPS13A(NM_033305.3):c.5747G>A (p.S1916N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77321663G>A" "" "likely benign" "" "0000313669" "0" "10" "9" "79938036" "79938036" "subst" "0.00360664" "02329" "VPS13A_000055" "g.79938036C>T" "" "" "" "VPS13A(NM_001018037.1):c.5767C>T (p.(Arg1923Cys)), VPS13A(NM_033305.2):c.5884C>T (p.R1962C), VPS13A(NM_033305.3):c.5884C>T (p.R1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77323120C>T" "" "benign" "" "0000313670" "0" "10" "9" "79938069" "79938069" "subst" "0.00919761" "02329" "VPS13A_000056" "g.79938069G>A" "" "" "" "VPS13A(NM_033305.3):c.5917G>A (p.V1973I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77323153G>A" "" "benign" "" "0000313671" "0" "10" "9" "79938131" "79938131" "subst" "0.00483772" "02329" "VPS13A_000121" "g.79938131C>T" "" "" "" "VPS13A(NM_033305.3):c.5979C>T (p.R1993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77323215C>T" "" "benign" "" "0000313672" "0" "10" "9" "79946961" "79946961" "subst" "0.08478" "02329" "VPS13A_000122" "g.79946961C>T" "" "" "" "VPS13A(NM_033305.3):c.6027C>T (p.Y2009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77332045C>T" "" "benign" "" "0000313673" "0" "30" "9" "79827940" "79827940" "subst" "3.25248E-5" "02329" "VPS13A_000073" "g.79827940G>A" "" "" "" "VPS13A(NM_033305.2):c.611G>A (p.R204H), VPS13A(NM_033305.3):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213024G>A" "" "likely benign" "" "0000313674" "0" "10" "9" "79827964" "79827964" "subst" "0.0843302" "02329" "VPS13A_000074" "g.79827964G>C" "" "" "" "VPS13A(NM_033305.3):c.615+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213048G>C" "" "benign" "" "0000313675" "0" "30" "9" "79954423" "79954424" "del" "0" "02329" "VPS13A_000123" "g.79954423_79954424del" "" "" "" "VPS13A(NM_033305.3):c.6379-9_6379-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339507_77339508del" "" "likely benign" "" "0000313676" "0" "10" "9" "79954545" "79954545" "subst" "0.168204" "02329" "VPS13A_000052" "g.79954545T>C" "" "" "" "VPS13A(NM_033305.3):c.6492T>C (p.D2164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339629T>C" "" "benign" "" "0000313678" "0" "10" "9" "79955301" "79955301" "subst" "0.00968018" "02329" "VPS13A_000033" "g.79955301G>C" "" "" "" "VPS13A(NM_033305.3):c.6880-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77340385G>C" "" "benign" "" "0000313679" "0" "30" "9" "79959197" "79959197" "subst" "0.00307417" "02329" "VPS13A_000132" "g.79959197G>A" "" "" "" "VPS13A(NM_033305.3):c.7155G>A (p.E2385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77344281G>A" "" "likely benign" "" "0000313680" "0" "30" "9" "79968321" "79968321" "subst" "0" "02329" "VPS13A_000133" "g.79968321C>T" "" "" "" "VPS13A(NM_033305.3):c.7420-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353405C>T" "" "likely benign" "" "0000313681" "0" "30" "9" "79968346" "79968346" "subst" "6.52278E-5" "02329" "VPS13A_000134" "g.79968346T>G" "" "" "" "VPS13A(NM_033305.3):c.7441T>G (p.L2481V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353430T>G" "" "likely benign" "" "0000313682" "0" "10" "9" "79968362" "79968362" "subst" "0.00150975" "02329" "VPS13A_000136" "g.79968362T>C" "" "" "" "VPS13A(NM_033305.3):c.7457T>C (p.I2486T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353446T>C" "" "benign" "" "0000313683" "0" "30" "9" "79968538" "79968538" "subst" "4.07611E-6" "02329" "VPS13A_000137" "g.79968538G>A" "" "" "" "VPS13A(NM_033305.2):c.7633G>A (p.A2545T), VPS13A(NM_033305.3):c.7633G>A (p.A2545T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77353622G>A" "" "likely benign" "" "0000313684" "0" "10" "9" "79982959" "79982959" "subst" "0.00648103" "02329" "VPS13A_000144" "g.79982959C>T" "" "" "" "VPS13A(NM_033305.3):c.8472-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77368043C>T" "" "benign" "" "0000313685" "0" "10" "9" "79985181" "79985181" "subst" "0.00631507" "02329" "VPS13A_000145" "g.79985181C>T" "" "" "" "VPS13A(NM_033305.3):c.8676C>T (p.I2892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77370265C>T" "" "benign" "" "0000313686" "0" "30" "9" "80018132" "80018132" "subst" "0.000887129" "02329" "VPS13A_000152" "g.80018132C>T" "" "" "" "VPS13A(NM_033305.3):c.9190-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77403216C>T" "" "likely benign" "" "0000313687" "0" "10" "9" "80020874" "80020874" "subst" "0.00963249" "02329" "VPS13A_000004" "g.80020874C>A" "" "" "" "VPS13A(NM_033305.2):c.9370C>A (p.(His3124Asn)), VPS13A(NM_033305.3):c.9370C>A (p.H3124N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405958C>A" "" "benign" "" "0000313688" "0" "30" "9" "80020886" "80020886" "subst" "0.0187503" "02329" "VPS13A_000153" "g.80020886T>C" "" "" "" "VPS13A(NM_001018037.2):c.9265T>C (p.L3089=), VPS13A(NM_033305.3):c.9382T>C (p.L3128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77405970T>C" "" "likely benign" "" "0000313690" "0" "30" "9" "79835326" "79835327" "del" "0" "02329" "VPS13A_000080" "g.79835326_79835327del" "" "" "" "VPS13A(NM_033305.3):c.989+27_989+28delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77220410_77220411del" "" "likely benign" "" "0000313691" "0" "10" "9" "79835327" "79835327" "del" "0" "02329" "VPS13A_000079" "g.79835327del" "" "" "" "VPS13A(NM_001018037.2):c.989+28delT, VPS13A(NM_033305.3):c.989+28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77220411del" "" "benign" "" "0000315299" "0" "10" "9" "79897117" "79897117" "subst" "0.0898522" "02326" "VPS13A_000014" "g.79897117G>A" "" "" "" "VPS13A(NM_033305.2):c.3045G>A (p.P1015=), VPS13A(NM_033305.3):c.3045G>A (p.P1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77282201G>A" "" "benign" "" "0000319640" "0" "10" "9" "79814854" "79814854" "subst" "0.000792534" "01943" "VPS13A_000064" "g.79814854T>C" "" "" "" "VPS13A(NM_033305.2):c.101-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77199938T>C" "" "benign" "" "0000319641" "0" "30" "9" "79853080" "79853080" "subst" "0.0019189" "01943" "VPS13A_000087" "g.79853080T>C" "" "" "" "VPS13A(NM_033305.2):c.1758T>C (p.A586=), VPS13A(NM_033305.3):c.1758T>C (p.A586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77238164T>C" "" "likely benign" "" "0000319642" "0" "30" "9" "79875040" "79875040" "subst" "4.10617E-6" "01943" "VPS13A_000091" "g.79875040G>A" "" "" "" "VPS13A(NM_033305.2):c.2327G>A (p.R776Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77260124G>A" "" "likely benign" "" "0000319643" "0" "30" "9" "79888268" "79888268" "subst" "1.6446E-5" "01943" "VPS13A_000096" "g.79888268G>C" "" "" "" "VPS13A(NM_033305.2):c.2500G>C (p.V834L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77273352G>C" "" "likely benign" "" "0000319644" "0" "30" "9" "79910595" "79910595" "subst" "0.00632453" "01943" "VPS13A_000107" "g.79910595C>A" "" "" "" "VPS13A(NM_033305.2):c.3645C>A (p.A1215=), VPS13A(NM_033305.3):c.3645C>A (p.A1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77295679C>A" "" "likely benign" "" "0000319645" "0" "30" "9" "79929558" "79929558" "subst" "0.000216424" "01943" "VPS13A_000111" "g.79929558C>A" "" "" "" "VPS13A(NM_033305.2):c.4390C>A (p.H1464N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77314642C>A" "" "likely benign" "" "0000319646" "0" "30" "9" "79931101" "79931101" "subst" "0.00204563" "01943" "VPS13A_000113" "g.79931101G>A" "" "" "" "VPS13A(NM_033305.2):c.4642G>A (p.E1548K), VPS13A(NM_033305.3):c.4642G>A (p.E1548K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77316185G>A" "" "likely benign" "" "0000319647" "0" "30" "9" "79933378" "79933378" "subst" "0.000836899" "01943" "VPS13A_000116" "g.79933378T>C" "" "" "" "VPS13A(NM_033305.2):c.5184T>C (p.S1728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77318462T>C" "" "likely benign" "" "0000319648" "0" "30" "9" "79936123" "79936123" "subst" "6.53162E-5" "01943" "VPS13A_000119" "g.79936123T>C" "" "" "" "VPS13A(NM_033305.2):c.5454T>C (p.D1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77321207T>C" "" "likely benign" "" "0000319649" "0" "30" "9" "79938036" "79938036" "subst" "0.00360664" "01943" "VPS13A_000055" "g.79938036C>T" "" "" "" "VPS13A(NM_001018037.1):c.5767C>T (p.(Arg1923Cys)), VPS13A(NM_033305.2):c.5884C>T (p.R1962C), VPS13A(NM_033305.3):c.5884C>T (p.R1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77323120C>T" "" "likely benign" "" "0000319650" "0" "50" "9" "79954666" "79954666" "subst" "7.31547E-5" "01943" "VPS13A_000127" "g.79954666G>T" "" "" "" "VPS13A(NM_033305.2):c.6613G>T (p.G2205C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339750G>T" "" "VUS" "" "0000319651" "0" "30" "9" "79954743" "79954743" "subst" "0.000843789" "01943" "VPS13A_000128" "g.79954743C>T" "" "" "" "VPS13A(NM_033305.2):c.6690C>T (p.D2230=), VPS13A(NM_033305.3):c.6690C>T (p.D2230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339827C>T" "" "likely benign" "" "0000319652" "0" "50" "9" "79828216" "79828216" "del" "0" "01943" "VPS13A_000075" "g.79828216del" "" "" "" "VPS13A(NM_033305.2):c.682delT (p.Y228Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77213300del" "" "VUS" "" "0000319653" "0" "30" "9" "79972622" "79972622" "subst" "8.13187E-6" "01943" "VPS13A_000139" "g.79972622T>C" "" "" "" "VPS13A(NM_033305.2):c.7821T>C (p.P2607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77357706T>C" "" "likely benign" "" "0000319654" "0" "30" "9" "79980387" "79980387" "subst" "4.48127E-5" "01943" "VPS13A_000141" "g.79980387T>C" "" "" "" "VPS13A(NM_033305.2):c.8223T>C (p.F2741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77365471T>C" "" "likely benign" "" "0000319655" "0" "50" "9" "79999566" "79999580" "del" "0" "01943" "VPS13A_000150" "g.79999566_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9255_9269delTGATGATGATGATGA (p.D3085_D3089del), VPS13A(NM_015186.4):c.9255_9269delTGATGATGATGATGA (p.D3085_D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77384650_77384664del" "" "VUS" "" "0000319656" "0" "30" "9" "79999569" "79999580" "del" "0" "01943" "VPS13A_000149" "g.79999569_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9258_9269delTGATGATGATGA (p.D3086_D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77384653_77384664del" "" "likely benign" "" "0000319657" "0" "10" "9" "79999578" "79999580" "del" "0" "01943" "VPS13A_000148" "g.79999578_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9267_9269delTGA (p.D3089del), VPS13A(NM_015186.4):c.9267_9269delTGA (p.D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77384662_77384664del" "" "benign" "" "0000346908" "0" "90" "9" "79792664" "79792664" "subst" "0" "02327" "VPS13A_000156" "g.79792664T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77177748T>A" "" "pathogenic" "" "0000350401" "0" "50" "9" "79954646" "79954646" "subst" "0" "02327" "VPS13A_000157" "g.79954646T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77339730T>G" "" "VUS" "" "0000356921" "3" "90" "9" "79929494" "79929494" "subst" "0" "01807" "VPS13A_000212" "g.79929494T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.77314578T>A" "" "pathogenic" "" "0000538496" "0" "50" "9" "79816265" "79816265" "subst" "0" "01943" "VPS13A_000161" "g.79816265T>G" "" "" "" "VPS13A(NM_033305.2):c.145-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77201349T>G" "" "VUS" "" "0000538497" "0" "30" "9" "79820214" "79820214" "subst" "0" "02329" "VPS13A_000162" "g.79820214C>T" "" "" "" "VPS13A(NM_033305.3):c.188-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77205298C>T" "" "likely benign" "" "0000538498" "0" "30" "9" "79820344" "79820344" "del" "0" "02329" "VPS13A_000163" "g.79820344del" "" "" "" "VPS13A(NM_033305.3):c.283+20delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77205428del" "" "likely benign" "" "0000538499" "0" "30" "9" "79825541" "79825541" "subst" "8.132E-5" "02329" "VPS13A_000164" "g.79825541C>T" "" "" "" "VPS13A(NM_033305.3):c.505C>T (p.R169W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77210625C>T" "" "likely benign" "" "0000538500" "0" "30" "9" "79825586" "79825586" "subst" "0" "02329" "VPS13A_000165" "g.79825586A>G" "" "" "" "VPS13A(NM_033305.2):c.550A>G (p.M184V), VPS13A(NM_033305.3):c.550A>G (p.M184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77210670A>G" "" "likely benign" "" "0000538501" "0" "30" "9" "79834890" "79834890" "subst" "0.0024187" "02329" "VPS13A_000076" "g.79834890A>G" "" "" "" "VPS13A(NM_033305.2):c.775A>G (p.N259D), VPS13A(NM_033305.3):c.775A>G (p.N259D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77219974A>G" "" "likely benign" "" "0000538502" "0" "30" "9" "79835291" "79835291" "subst" "5.36645E-5" "01943" "VPS13A_000166" "g.79835291C>T" "" "" "" "VPS13A(NM_033305.2):c.981C>T (p.A327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77220375C>T" "" "likely benign" "" "0000538503" "0" "10" "9" "79835327" "79835327" "dup" "0" "02329" "VPS13A_000078" "g.79835327dup" "" "" "" "VPS13A(NM_001018037.2):c.989+28dupT, VPS13A(NM_033305.3):c.989+28dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77220411dup" "" "benign" "" "0000538504" "0" "50" "9" "79841460" "79841460" "subst" "4.06775E-6" "01943" "VPS13A_000167" "g.79841460T>C" "" "" "" "VPS13A(NM_033305.2):c.1303T>C (p.W435R), VPS13A(NM_033305.3):c.1303T>C (p.W435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77226544T>C" "" "VUS" "" "0000538505" "0" "30" "9" "79841460" "79841460" "subst" "4.06775E-6" "02329" "VPS13A_000167" "g.79841460T>C" "" "" "" "VPS13A(NM_033305.2):c.1303T>C (p.W435R), VPS13A(NM_033305.3):c.1303T>C (p.W435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77226544T>C" "" "likely benign" "" "0000538506" "0" "30" "9" "79842303" "79842303" "subst" "0" "02329" "VPS13A_000168" "g.79842303G>A" "" "" "" "VPS13A(NM_033305.3):c.1358-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77227387G>A" "" "likely benign" "" "0000538507" "0" "30" "9" "79853219" "79853219" "subst" "8.12929E-6" "01943" "VPS13A_000169" "g.79853219G>A" "" "" "" "VPS13A(NM_033305.2):c.1817G>A (p.R606K), VPS13A(NM_033305.3):c.1817G>A (p.R606K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77238303G>A" "" "likely benign" "" "0000538508" "0" "30" "9" "79853219" "79853219" "subst" "8.12929E-6" "02329" "VPS13A_000169" "g.79853219G>A" "" "" "" "VPS13A(NM_033305.2):c.1817G>A (p.R606K), VPS13A(NM_033305.3):c.1817G>A (p.R606K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77238303G>A" "" "likely benign" "" "0000538509" "0" "50" "9" "79862281" "79862281" "subst" "0" "02329" "VPS13A_000170" "g.79862281T>G" "" "" "" "VPS13A(NM_033305.3):c.2007T>G (p.N669K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77247365T>G" "" "VUS" "" "0000538510" "0" "30" "9" "79867181" "79867181" "subst" "0.000617324" "02329" "VPS13A_000171" "g.79867181G>A" "" "" "" "VPS13A(NM_033305.3):c.2201G>A (p.S734N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77252265G>A" "" "likely benign" "" "0000538511" "0" "90" "9" "79867230" "79867233" "del" "0" "01943" "VPS13A_000172" "g.79867230_79867233del" "" "" "" "VPS13A(NM_033305.2):c.2250_2253delGTCT (p.S751Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77252314_77252317del" "" "pathogenic" "" "0000538512" "0" "10" "9" "79891006" "79891006" "subst" "0.0196475" "02329" "VPS13A_000173" "g.79891006T>C" "" "" "" "VPS13A(NM_033305.3):c.2693T>C (p.V898A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77276090T>C" "" "benign" "" "0000538513" "0" "30" "9" "79891127" "79891127" "subst" "0.000571213" "01943" "VPS13A_000174" "g.79891127A>G" "" "" "" "VPS13A(NM_033305.2):c.2814A>G (p.P938=), VPS13A(NM_033305.3):c.2814A>G (p.P938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77276211A>G" "" "likely benign" "" "0000538514" "0" "30" "9" "79891127" "79891127" "subst" "0.000571213" "02329" "VPS13A_000174" "g.79891127A>G" "" "" "" "VPS13A(NM_033305.2):c.2814A>G (p.P938=), VPS13A(NM_033305.3):c.2814A>G (p.P938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77276211A>G" "" "likely benign" "" "0000538515" "0" "30" "9" "79897155" "79897155" "subst" "0.0058495" "02325" "VPS13A_000175" "g.79897155A>G" "" "" "" "VPS13A(NM_033305.3):c.3083A>G (p.E1028G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77282239A>G" "" "likely benign" "" "0000538516" "0" "50" "9" "79898345" "79898345" "subst" "0.000220675" "01943" "VPS13A_000176" "g.79898345A>G" "" "" "" "VPS13A(NM_033305.2):c.3193A>G (p.I1065V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77283429A>G" "" "VUS" "" "0000538517" "0" "50" "9" "79908273" "79908273" "subst" "0.00306441" "01943" "VPS13A_000177" "g.79908273G>A" "" "" "" "VPS13A(NM_033305.2):c.3356G>A (p.G1119E), VPS13A(NM_033305.3):c.3356G>A (p.G1119E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77293357G>A" "" "VUS" "" "0000538518" "0" "30" "9" "79908273" "79908273" "subst" "0.00306441" "02329" "VPS13A_000177" "g.79908273G>A" "" "" "" "VPS13A(NM_033305.2):c.3356G>A (p.G1119E), VPS13A(NM_033305.3):c.3356G>A (p.G1119E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77293357G>A" "" "likely benign" "" "0000538519" "0" "30" "9" "79908419" "79908419" "subst" "0.000100069" "02329" "VPS13A_000178" "g.79908419A>G" "" "" "" "VPS13A(NM_033305.3):c.3502A>G (p.I1168V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77293503A>G" "" "likely benign" "" "0000538520" "0" "30" "9" "79922941" "79922941" "subst" "0.00322326" "02329" "VPS13A_000179" "g.79922941C>T" "" "" "" "VPS13A(NM_033305.3):c.4041C>T (p.A1347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77308025C>T" "" "likely benign" "" "0000538521" "0" "30" "9" "79930265" "79930265" "subst" "0.00480183" "02329" "VPS13A_000180" "g.79930265A>G" "" "" "" "VPS13A(NM_033305.3):c.4509A>G (p.Q1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77315349A>G" "" "likely benign" "" "0000538522" "0" "30" "9" "79930355" "79930355" "subst" "4.06398E-6" "02329" "VPS13A_000181" "g.79930355C>G" "" "" "" "VPS13A(NM_033305.3):c.4599C>G (p.T1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77315439C>G" "" "likely benign" "" "0000538523" "0" "30" "9" "79931175" "79931175" "subst" "1.62662E-5" "02329" "VPS13A_000182" "g.79931175T>C" "" "" "" "VPS13A(NM_033305.3):c.4716T>C (p.N1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77316259T>C" "" "likely benign" "" "0000538524" "0" "30" "9" "79933241" "79933241" "subst" "0.000330238" "01943" "VPS13A_000183" "g.79933241A>G" "" "" "" "VPS13A(NM_033305.2):c.5047A>G (p.T1683A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77318325A>G" "" "likely benign" "" "0000538525" "0" "30" "9" "79933458" "79933458" "subst" "8.22416E-6" "01943" "VPS13A_000184" "g.79933458G>A" "" "" "" "VPS13A(NM_033305.2):c.5264G>A (p.G1755D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77318542G>A" "" "likely benign" "" "0000538526" "0" "30" "9" "79936429" "79936429" "subst" "0" "02329" "VPS13A_000185" "g.79936429G>C" "" "" "" "VPS13A(NM_033305.3):c.5597G>C (p.G1866A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77321513G>C" "" "likely benign" "" "0000538527" "0" "30" "9" "79936665" "79936665" "subst" "4.085E-6" "02329" "VPS13A_000186" "g.79936665A>G" "" "" "" "VPS13A(NM_033305.3):c.5830+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77321749A>G" "" "likely benign" "" "0000538528" "0" "30" "9" "79952155" "79952155" "subst" "0.000532714" "02329" "VPS13A_000187" "g.79952155A>T" "" "" "" "VPS13A(NM_033305.3):c.6096-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77337239A>T" "" "likely benign" "" "0000538529" "0" "30" "9" "79952164" "79952164" "subst" "0.000485175" "01943" "VPS13A_000188" "g.79952164C>T" "" "" "" "VPS13A(NM_033305.2):c.6096-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77337248C>T" "" "likely benign" "" "0000538530" "0" "30" "9" "79952352" "79952352" "subst" "4.06402E-6" "02329" "VPS13A_000189" "g.79952352G>A" "" "" "" "VPS13A(NM_033305.3):c.6277G>A (p.V2093M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77337436G>A" "" "likely benign" "" "0000538531" "0" "50" "9" "79952453" "79952453" "subst" "0" "01943" "VPS13A_000190" "g.79952453G>C" "" "" "" "VPS13A(NM_033305.2):c.6378G>C (p.E2126D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77337537G>C" "" "VUS" "" "0000538532" "0" "30" "9" "79952467" "79952467" "subst" "2.05019E-5" "02329" "VPS13A_000191" "g.79952467G>T" "" "" "" "VPS13A(NM_033305.3):c.6378+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77337551G>T" "" "likely benign" "" "0000538533" "0" "30" "9" "79954415" "79954415" "subst" "0" "02329" "VPS13A_000124" "g.79954415T>G" "" "" "" "VPS13A(NM_033305.3):c.6379-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77339499T>G" "" "likely benign" "" "0000538534" "0" "30" "9" "79954463" "79954463" "subst" "0.00127386" "01943" "VPS13A_000126" "g.79954463A>G" "" "" "" "VPS13A(NM_033305.2):c.6410A>G (p.E2137G), VPS13A(NM_033305.3):c.6410A>G (p.E2137G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77339547A>G" "" "likely benign" "" "0000538535" "0" "50" "9" "79954553" "79954553" "subst" "0.0002684" "01943" "VPS13A_000192" "g.79954553G>A" "" "" "" "VPS13A(NM_033305.2):c.6500G>A (p.S2167N), VPS13A(NM_033305.3):c.6500G>A (p.S2167N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77339637G>A" "" "VUS" "" "0000538536" "0" "30" "9" "79954553" "79954553" "subst" "0.0002684" "02329" "VPS13A_000192" "g.79954553G>A" "" "" "" "VPS13A(NM_033305.2):c.6500G>A (p.S2167N), VPS13A(NM_033305.3):c.6500G>A (p.S2167N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77339637G>A" "" "likely benign" "" "0000538537" "0" "30" "9" "79954611" "79954611" "subst" "0.000101585" "01943" "VPS13A_000193" "g.79954611T>C" "" "" "" "VPS13A(NM_033305.2):c.6558T>C (p.V2186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77339695T>C" "" "likely benign" "" "0000538538" "0" "10" "9" "79955314" "79955314" "dup" "0" "02329" "VPS13A_000130" "g.79955314dup" "" "" "" "VPS13A(NM_001018037.2):c.6763-6dupT, VPS13A(NM_033305.3):c.6880-5delCinsTC, VPS13A(NM_033305.3):c.6880-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77340398dup" "" "benign" "" "0000538539" "0" "70" "9" "79955333" "79955336" "dup" "0" "02329" "VPS13A_000194" "g.79955333_79955336dup" "" "" "" "VPS13A(NM_033305.3):c.6893_6896dupTAGA (p.L2300Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77340417_77340420dup" "" "likely pathogenic" "" "0000538540" "0" "30" "9" "79955413" "79955413" "subst" "4.0661E-5" "02329" "VPS13A_000131" "g.79955413A>G" "" "" "" "VPS13A(NM_033305.3):c.6973A>G (p.I2325V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77340497A>G" "" "likely benign" "" "0000538541" "0" "50" "9" "79959120" "79959120" "subst" "0.000499586" "02329" "VPS13A_000195" "g.79959120G>A" "" "" "" "VPS13A(NM_033305.3):c.7078G>A (p.E2360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77344204G>A" "" "VUS" "" "0000538542" "0" "50" "9" "79959138" "79959138" "subst" "0.000243736" "01943" "VPS13A_000196" "g.79959138C>T" "" "" "" "VPS13A(NM_033305.2):c.7096C>T (p.P2366S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77344222C>T" "" "VUS" "" "0000538544" "0" "30" "9" "79960058" "79960058" "subst" "3.26214E-5" "02329" "VPS13A_000198" "g.79960058G>A" "" "" "" "VPS13A(NM_033305.3):c.7289G>A (p.S2430N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77345142G>A" "" "likely benign" "" "0000538545" "0" "30" "9" "79968318" "79968318" "subst" "0" "02329" "VPS13A_000199" "g.79968318A>T" "" "" "" "VPS13A(NM_033305.3):c.7420-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77353402A>T" "" "likely benign" "" "0000538547" "0" "30" "9" "79968542" "79968542" "subst" "4.07651E-6" "01943" "VPS13A_000200" "g.79968542A>T" "" "" "" "VPS13A(NM_033305.2):c.7637A>T (p.Y2546F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77353626A>T" "" "likely benign" "" "0000538548" "0" "30" "9" "79971789" "79971789" "subst" "0.00286503" "02329" "VPS13A_000201" "g.79971789A>G" "" "" "" "VPS13A(NM_033305.3):c.7806+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77356873A>G" "" "likely benign" "" "0000538549" "0" "30" "9" "79972721" "79972721" "subst" "0.00041856" "02329" "VPS13A_000202" "g.79972721A>G" "" "" "" "VPS13A(NM_033305.3):c.7920A>G (p.Q2640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77357805A>G" "" "likely benign" "" "0000538550" "0" "30" "9" "79974334" "79974335" "dup" "0" "02329" "VPS13A_000203" "g.79974334_79974335dup" "" "" "" "VPS13A(NM_033305.3):c.8105+15_8105+16dupAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77359418_77359419dup" "" "likely benign" "" "0000538551" "0" "10" "9" "79984232" "79984232" "subst" "0.0724476" "02329" "VPS13A_000047" "g.79984232T>C" "" "" "" "VPS13A(NM_033305.3):c.8571T>C (p.Y2857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77369316T>C" "" "benign" "" "0000538552" "0" "30" "9" "79986073" "79986073" "subst" "0" "01943" "VPS13A_000204" "g.79986073C>G" "" "" "" "VPS13A(NM_033305.2):c.9077+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77371157C>G" "" "likely benign" "" "0000538553" "0" "10" "9" "79996964" "79996964" "subst" "0.00112346" "01943" "VPS13A_000205" "g.79996964G>A" "" "" "" "VPS13A(NM_033305.2):c.9150G>A (p.P3050=), VPS13A(NM_033305.3):c.9150G>A (p.P3050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77382048G>A" "" "benign" "" "0000538554" "0" "30" "9" "79996964" "79996964" "subst" "0.00112346" "02329" "VPS13A_000205" "g.79996964G>A" "" "" "" "VPS13A(NM_033305.2):c.9150G>A (p.P3050=), VPS13A(NM_033305.3):c.9150G>A (p.P3050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77382048G>A" "" "likely benign" "" "0000538555" "0" "30" "9" "79996990" "79996990" "subst" "2.05489E-5" "01943" "VPS13A_000206" "g.79996990A>G" "" "" "" "VPS13A(NM_033305.2):c.9176A>G (p.N3059S), VPS13A(NM_033305.3):c.9176A>G (p.N3059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77382074A>G" "" "likely benign" "" "0000538556" "0" "30" "9" "79996990" "79996990" "subst" "2.05489E-5" "02329" "VPS13A_000206" "g.79996990A>G" "" "" "" "VPS13A(NM_033305.2):c.9176A>G (p.N3059S), VPS13A(NM_033305.3):c.9176A>G (p.N3059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77382074A>G" "" "likely benign" "" "0000538558" "0" "10" "9" "79999578" "79999580" "dup" "0" "02325" "VPS13A_000207" "g.79999578_79999580dup" "" "" "" "VPS13A(NM_015186.3):c.9267_9269dupTGA (p.D3089dup), VPS13A(NM_015186.4):c.9267_9269dupTGA (p.D3089dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77384662_77384664dup" "" "benign" "" "0000538559" "0" "10" "9" "79999578" "79999580" "dup" "0" "01943" "VPS13A_000207" "g.79999578_79999580dup" "" "" "" "VPS13A(NM_015186.3):c.9267_9269dupTGA (p.D3089dup), VPS13A(NM_015186.4):c.9267_9269dupTGA (p.D3089dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77384662_77384664dup" "" "benign" "" "0000538560" "0" "30" "9" "80020839" "80020839" "subst" "0" "02329" "VPS13A_000208" "g.80020839G>A" "" "" "" "VPS13A(NM_033305.3):c.9335G>A (p.S3112N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77405923G>A" "" "likely benign" "" "0000578375" "1" "90" "9" "79828156" "79828156" "subst" "1.22113E-5" "00006" "VPS13A_000209" "g.79828156C>T" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77213240C>T" "" "pathogenic (recessive)" "" "0000578376" "2" "90" "9" "79930175" "79930175" "dup" "0" "00006" "VPS13A_000210" "g.79930175dup" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "4419_4420insA" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000578378" "3" "90" "9" "79929522" "79929522" "subst" "0" "00006" "VPS13A_000211" "g.79929522T>C" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "Germline" "" "" "0" "" "" "g.77314606T>C" "" "pathogenic (recessive)" "" "0000578379" "3" "90" "9" "79843177" "79843177" "del" "0" "00006" "VPS13A_000213" "g.79843177del" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "1592delT" "" "Germline" "" "" "0" "" "" "g.77228261del" "" "pathogenic (recessive)" "" "0000578380" "1" "90" "9" "79820310" "79820310" "subst" "0" "00006" "VPS13A_000214" "g.79820310T>A" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "variant not found in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.77205394T>A" "" "pathogenic (recessive)" "" "0000578381" "2" "90" "9" "79954457" "79954457" "dup" "0" "00006" "VPS13A_000215" "g.79954457dup" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "6404–6405insT" "" "Germline" "" "" "0" "" "" "g.77339541dup" "" "pathogenic (recessive)" "" "0000578382" "3" "90" "9" "79910506" "79910507" "dup" "0" "00006" "VPS13A_000216" "g.79910506_79910507dup" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "3556–3557dupAC" "" "Germline" "" "" "0" "" "" "g.77295590_77295591dup" "" "pathogenic (recessive)" "" "0000578383" "1" "90" "9" "79954753" "79954753" "subst" "0" "00006" "VPS13A_000217" "g.79954753C>T" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "Germline" "" "" "0" "" "" "g.77339837C>T" "" "pathogenic (recessive)" "" "0000578384" "2" "90" "9" "79955092" "79955092" "subst" "0" "00006" "VPS13A_000218" "g.79955092A>C" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "VS48-2A>C" "" "Germline" "" "" "0" "" "" "g.77340176A>C" "" "pathogenic (recessive)" "" "0000578387" "1" "90" "9" "79996923" "79996923" "subst" "2.45126E-5" "00006" "VPS13A_000001" "g.79996923C>T" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "" "Germline" "" "" "0" "" "" "g.77382007C>T" "" "pathogenic (recessive)" "" "0000578388" "2" "90" "9" "80020791" "80020794" "dup" "0" "00006" "VPS13A_000219" "g.80020791_80020794dup" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "9286–9289dupTTTG" "" "Germline" "" "" "0" "" "" "g.77405875_77405878dup" "" "pathogenic (recessive)" "" "0000578389" "3" "90" "9" "79836226" "79836226" "del" "0" "00006" "VPS13A_000220" "g.79836226del" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "1115delA" "" "Germline" "" "" "0" "" "" "g.77221310del" "" "pathogenic (recessive)" "" "0000578390" "1" "90" "9" "79975508" "79975508" "subst" "2.84699E-5" "00006" "VPS13A_000221" "g.79975508A>G" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "" "no variant 2nd allele identified; variant not in 2100 control chromosomes" "Germline" "" "" "0" "" "" "g.77360592A>G" "" "pathogenic (recessive)" "" "0000578391" "1" "90" "9" "79895083" "79895084" "del" "0" "00006" "VPS13A_000222" "g.79895083_79895084del" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "2833–2834delAA" "no variant 2nd allele identified" "Germline" "" "" "0" "" "" "g.77280167_77280168del" "" "pathogenic (recessive)" "" "0000578392" "1" "90" "9" "79820278" "79820278" "del" "0" "00006" "VPS13A_000223" "g.79820278del" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "237delT" "" "Germline" "" "" "0" "" "" "g.77205362del" "" "pathogenic (recessive)" "" "0000578393" "2" "90" "9" "80022478" "80022481" "del" "0" "00006" "VPS13A_000224" "g.80022478_80022481del" "" "{PMID:Rampoldi 2001:11381253}, {DOI:Rampoldi 2001:10.1038/88821}" "" "9429–9432delAGAG" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.77384824_77384827del" "" "pathogenic (recessive)" "" "0000612169" "0" "30" "9" "79814886" "79814886" "subst" "0.000135146" "01943" "VPS13A_000225" "g.79814886A>G" "" "" "" "VPS13A(NM_033305.2):c.126A>G (p.Q42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77199970A>G" "" "likely benign" "" "0000612170" "0" "30" "9" "79820269" "79820269" "subst" "0.00217451" "02329" "VPS13A_000226" "g.79820269T>C" "" "" "" "VPS13A(NM_033305.3):c.228T>C (p.T76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77205353T>C" "" "likely benign" "" "0000612171" "0" "50" "9" "79853284" "79853284" "subst" "1.62549E-5" "01943" "VPS13A_000227" "g.79853284C>T" "" "" "" "VPS13A(NM_033305.2):c.1882C>T (p.R628C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77238368C>T" "" "VUS" "" "0000612172" "0" "30" "9" "79896788" "79896788" "subst" "0.00234404" "02329" "VPS13A_000229" "g.79896788A>G" "" "" "" "VPS13A(NM_033305.3):c.2910A>G (p.E970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77281872A>G" "" "likely benign" "" "0000612173" "0" "30" "9" "79930346" "79930346" "subst" "0.000260086" "02329" "VPS13A_000230" "g.79930346T>G" "" "" "" "VPS13A(NM_033305.2):c.4590T>G (p.A1530=), VPS13A(NM_033305.3):c.4590T>G (p.A1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77315430T>G" "" "likely benign" "" "0000612174" "0" "10" "9" "79968309" "79968309" "subst" "0" "02329" "VPS13A_000234" "g.79968309G>T" "" "" "" "VPS13A(NM_033305.3):c.7420-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77353393G>T" "" "benign" "" "0000612175" "0" "30" "9" "79981685" "79981685" "subst" "0" "02329" "VPS13A_000235" "g.79981685A>G" "" "" "" "VPS13A(NM_033305.3):c.8368A>G (p.K2790E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77366769A>G" "" "likely benign" "" "0000612176" "0" "30" "9" "79996885" "79996885" "subst" "0.000632122" "01943" "VPS13A_000236" "g.79996885C>T" "" "" "" "VPS13A(NM_033305.2):c.9078-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77381969C>T" "" "likely benign" "" "0000622290" "0" "30" "9" "79865158" "79865158" "subst" "0.0012708" "02329" "VPS13A_000089" "g.79865158T>C" "" "" "" "VPS13A(NM_033305.3):c.2170+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77250242T>C" "" "likely benign" "" "0000622291" "0" "50" "9" "79867169" "79867169" "subst" "0" "02325" "VPS13A_000228" "g.79867169C>T" "" "" "" "VPS13A(NM_033305.3):c.2189C>T (p.A730V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77252253C>T" "" "VUS" "" "0000622292" "0" "30" "9" "79930346" "79930346" "subst" "0.000260086" "01943" "VPS13A_000230" "g.79930346T>G" "" "" "" "VPS13A(NM_033305.2):c.4590T>G (p.A1530=), VPS13A(NM_033305.3):c.4590T>G (p.A1530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77315430T>G" "" "likely benign" "" "0000622293" "0" "30" "9" "79937996" "79937996" "subst" "3.26006E-5" "02329" "VPS13A_000231" "g.79937996T>C" "" "" "" "VPS13A(NM_033305.3):c.5844T>C (p.H1948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77323080T>C" "" "likely benign" "" "0000622294" "0" "30" "9" "79959191" "79959191" "subst" "8.1279E-6" "02329" "VPS13A_000232" "g.79959191T>C" "" "" "" "VPS13A(NM_033305.3):c.7149T>C (p.D2383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77344275T>C" "" "likely benign" "" "0000622295" "0" "50" "9" "79966283" "79966283" "subst" "2.43643E-5" "01943" "VPS13A_000233" "g.79966283A>G" "" "" "" "VPS13A(NM_015186.3):c.7340A>G (p.Y2447C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77351367A>G" "" "VUS" "" "0000652742" "1" "30" "9" "79938069" "79938069" "subst" "0.00919761" "03575" "VPS13A_000056" "g.79938069G>A" "24/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs41289969}" "Germline" "" "rs41289969" "0" "" "" "g.77323153G>A" "" "likely benign" "" "0000652743" "1" "30" "9" "80020874" "80020874" "subst" "0.00963249" "03575" "VPS13A_000004" "g.80020874C>A" "68/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous; {DB:CLININrs117983287}" "Germline" "" "rs117983287" "0" "" "" "g.77405958C>A" "" "likely benign" "" "0000656382" "0" "10" "9" "79936457" "79936457" "subst" "0.00153925" "02329" "VPS13A_000063" "g.79936457A>G" "" "" "" "VPS13A(NM_033305.3):c.5625A>G (p.L1875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77321541A>G" "" "benign" "" "0000656383" "0" "10" "9" "79959095" "79959095" "subst" "0.00152723" "02329" "VPS13A_000036" "g.79959095T>C" "" "" "" "VPS13A(NM_033305.3):c.7053T>C (p.A2351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77344179T>C" "" "benign" "" "0000670070" "3" "30" "9" "80020874" "80020874" "subst" "0.00963249" "03575" "VPS13A_000004" "g.80020874C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117983287}" "Germline" "" "rs117983287" "0" "" "" "g.77405958C>A" "" "likely benign" "" "0000678711" "0" "30" "9" "79827940" "79827940" "subst" "3.25248E-5" "01943" "VPS13A_000073" "g.79827940G>A" "" "" "" "VPS13A(NM_033305.2):c.611G>A (p.R204H), VPS13A(NM_033305.3):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678712" "0" "30" "9" "79917922" "79917922" "subst" "0" "01943" "VPS13A_000237" "g.79917922G>A" "" "" "" "VPS13A(NM_033305.2):c.3904G>A (p.E1302K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678713" "0" "30" "9" "79931169" "79931169" "subst" "0" "01943" "VPS13A_000238" "g.79931169A>C" "" "" "" "VPS13A(NM_033305.2):c.4710A>C (p.T1570=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678714" "0" "30" "9" "79933486" "79933486" "subst" "0.00100568" "01943" "VPS13A_000117" "g.79933486G>T" "" "" "" "VPS13A(NM_033305.2):c.5292G>T (p.L1764=), VPS13A(NM_033305.3):c.5292G>T (p.L1764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678715" "0" "50" "9" "79936458" "79936458" "subst" "1.62901E-5" "01943" "VPS13A_000239" "g.79936458G>A" "" "" "" "VPS13A(NM_033305.2):c.5626G>A (p.A1876T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678716" "0" "50" "9" "79968538" "79968538" "subst" "4.07611E-6" "01943" "VPS13A_000137" "g.79968538G>A" "" "" "" "VPS13A(NM_033305.2):c.7633G>A (p.A2545T), VPS13A(NM_033305.3):c.7633G>A (p.A2545T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678717" "0" "50" "9" "79973337" "79973337" "subst" "4.46849E-5" "01804" "VPS13A_000240" "g.79973337C>T" "" "" "" "VPS13A(NM_001018037.1):c.7901C>T (p.(Ser2634Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686387" "0" "55" "9" "79959956" "79959956" "subst" "0" "01164" "VPS13A_000241" "g.79959956C>T" "" "" "" "" "ACMG grading: BP4,PM2" "Germline" "" "rs780864957" "0" "" "" "" "" "VUS" "ACMG" "0000690587" "0" "50" "9" "79827940" "79827940" "subst" "3.25248E-5" "02325" "VPS13A_000073" "g.79827940G>A" "" "" "" "VPS13A(NM_033305.2):c.611G>A (p.R204H), VPS13A(NM_033305.3):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690588" "0" "50" "9" "79836205" "79836205" "subst" "5.69884E-5" "01943" "VPS13A_000242" "g.79836205A>G" "" "" "" "VPS13A(NM_033305.2):c.1094A>G (p.Y365C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690589" "0" "50" "9" "79936084" "79936084" "subst" "0" "01943" "VPS13A_000243" "g.79936084G>T" "" "" "" "VPS13A(NM_033305.2):c.5416-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690590" "0" "50" "9" "79936140" "79936140" "subst" "0.00014297" "01943" "VPS13A_000244" "g.79936140A>G" "" "" "" "VPS13A(NM_033305.2):c.5471A>G (p.Y1824C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690591" "0" "30" "9" "79936597" "79936597" "subst" "2.44638E-5" "01943" "VPS13A_000245" "g.79936597C>A" "" "" "" "VPS13A(NM_033305.2):c.5765C>A (p.T1922N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690592" "0" "30" "9" "79938036" "79938036" "subst" "0.00360664" "01804" "VPS13A_000055" "g.79938036C>T" "" "" "" "VPS13A(NM_001018037.1):c.5767C>T (p.(Arg1923Cys)), VPS13A(NM_033305.2):c.5884C>T (p.R1962C), VPS13A(NM_033305.3):c.5884C>T (p.R1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000711875" "0" "70" "9" "79820325" "79820325" "subst" "0" "01164" "VPS13A_000246" "g.79820325G>A" "" "" "" "" "ACMG class 4, PVS1, PM2" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000711876" "0" "70" "9" "79996890" "79996890" "subst" "0" "01164" "VPS13A_000247" "g.79996890A>G" "" "" "" "" "ACMG class 4: PVS1, PM2" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000722570" "0" "30" "9" "79843113" "79843113" "subst" "0.000305966" "01943" "VPS13A_000084" "g.79843113C>T" "" "" "" "VPS13A(NM_033305.2):c.1528C>T (p.L510=), VPS13A(NM_033305.3):c.1528C>T (p.L510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722571" "0" "30" "9" "79865099" "79865099" "subst" "0.000634048" "01943" "VPS13A_000248" "g.79865099A>G" "" "" "" "VPS13A(NM_033305.2):c.2124A>G (p.S708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722572" "0" "50" "9" "79931161" "79931161" "subst" "2.44045E-5" "01943" "VPS13A_000114" "g.79931161G>A" "" "" "" "VPS13A(NM_033305.2):c.4702G>A (p.D1568N), VPS13A(NM_033305.3):c.4702G>A (p.D1568N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722573" "0" "30" "9" "79968312" "79968312" "subst" "0" "02329" "VPS13A_000249" "g.79968312G>T" "" "" "" "VPS13A(NM_033305.3):c.7420-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804197" "0" "50" "9" "79834980" "79834980" "subst" "4.49071E-5" "01943" "VPS13A_000250" "g.79834980G>A" "" "" "" "VPS13A(NM_033305.2):c.865G>A (p.E289K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804198" "0" "50" "9" "79933459" "79933459" "subst" "0.000246747" "01943" "VPS13A_000251" "g.79933459C>T" "" "" "" "VPS13A(NM_033305.2):c.5265C>T (p.G1755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804199" "0" "30" "9" "79954505" "79954505" "subst" "8.64491E-6" "01943" "VPS13A_000252" "g.79954505C>T" "" "" "" "VPS13A(NM_033305.2):c.6452C>T (p.A2151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804200" "0" "30" "9" "79968321" "79968321" "subst" "0" "01943" "VPS13A_000253" "g.79968321C>A" "" "" "" "VPS13A(NM_033305.2):c.7420-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804201" "0" "50" "9" "79972651" "79972651" "subst" "8.94091E-5" "02325" "VPS13A_000254" "g.79972651C>T" "" "" "" "VPS13A(NM_033305.2):c.7850C>T (p.(Pro2617Leu)), VPS13A(NM_033305.3):c.7850C>T (p.P2617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852316" "0" "10" "9" "79852910" "79852910" "dup" "0" "02329" "VPS13A_000086" "g.79852910dup" "" "" "" "VPS13A(NM_033305.3):c.1596-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852317" "0" "30" "9" "79853026" "79853026" "subst" "1.21912E-5" "01943" "VPS13A_000255" "g.79853026A>T" "" "" "" "VPS13A(NM_033305.2):c.1704A>T (p.T568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852318" "0" "30" "9" "79888264" "79888264" "subst" "1.64E-5" "01943" "VPS13A_000095" "g.79888264A>T" "" "" "" "VPS13A(NM_033305.2):c.2496A>T (p.P832=), VPS13A(NM_033305.3):c.2496A>T (p.P832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852319" "0" "30" "9" "79952242" "79952242" "subst" "2.0395E-5" "01943" "VPS13A_000260" "g.79952242T>C" "" "" "" "VPS13A(NM_033305.2):c.6167T>C (p.I2056T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861738" "0" "30" "9" "79825552" "79825552" "subst" "0.00031712" "01943" "VPS13A_000070" "g.79825552G>A" "" "" "" "VPS13A(NM_033305.2):c.516G>A (p.P172=), VPS13A(NM_033305.3):c.516G>A (p.P172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861739" "0" "30" "9" "79825586" "79825586" "subst" "0" "01943" "VPS13A_000165" "g.79825586A>G" "" "" "" "VPS13A(NM_033305.2):c.550A>G (p.M184V), VPS13A(NM_033305.3):c.550A>G (p.M184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861740" "0" "30" "9" "79888290" "79888290" "subst" "0" "01943" "VPS13A_000256" "g.79888290A>T" "" "" "" "VPS13A(NM_033305.2):c.2512+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861741" "0" "30" "9" "79898555" "79898555" "subst" "8.2872E-6" "01943" "VPS13A_000257" "g.79898555A>T" "" "" "" "VPS13A(NM_033305.2):c.3328A>T (p.I1110L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861742" "0" "30" "9" "79933309" "79933309" "subst" "1.22077E-5" "01943" "VPS13A_000258" "g.79933309A>G" "" "" "" "VPS13A(NM_033305.2):c.5115A>G (p.E1705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861743" "0" "30" "9" "79946973" "79946973" "subst" "0.000642496" "01943" "VPS13A_000259" "g.79946973C>A" "" "" "" "VPS13A(NM_033305.2):c.6039C>A (p.T2013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870224" "3" "90" "9" "79834914" "79834914" "subst" "8.12876E-6" "04336" "VPS13A_000061" "g.79834914C>T" "" "" "" "" "" "Germline" "yes" "rs771004767" "" "" "" "" "VCV000373362.6" "pathogenic" "ACMG" "0000876710" "0" "90" "9" "79959939" "79959940" "ins" "0" "03779" "VPS13A_000261" "g.79959939_79959940insAA" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000876711" "0" "90" "9" "80020816" "80020816" "del" "0" "03779" "VPS13A_000262" "g.80020816del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000888900" "0" "30" "9" "79867236" "79867236" "subst" "0" "02329" "VPS13A_000263" "g.79867236G>A" "" "" "" "VPS13A(NM_001018037.2):c.2256G>A (p.K752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913180" "0" "10" "9" "79999578" "79999580" "del" "0" "02329" "VPS13A_000003" "g.79999578_79999580del" "" "" "" "VPS13A(NM_015186.3):c.9267_9269delTGA (p.D3089del), VPS13A(NM_015186.4):c.9267_9269delTGA (p.D3089del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925070" "0" "10" "9" "79938069" "79938069" "subst" "0.00919761" "02325" "VPS13A_000056" "g.79938069G>A" "" "" "" "VPS13A(NM_033305.3):c.5917G>A (p.V1973I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925071" "0" "10" "9" "79999578" "79999580" "dup" "0" "02329" "VPS13A_000207" "g.79999578_79999580dup" "" "" "" "VPS13A(NM_015186.3):c.9267_9269dupTGA (p.D3089dup), VPS13A(NM_015186.4):c.9267_9269dupTGA (p.D3089dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997964" "0" "50" "9" "79820898" "79820898" "subst" "0" "01804" "VPS13A_000264" "g.79820898A>G" "" "" "" "VPS13A(NM_033305.2):c.288A>G (p.(Ile96Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997965" "0" "30" "9" "79853232" "79853232" "subst" "4.06461E-6" "01804" "VPS13A_000265" "g.79853232G>T" "" "" "" "VPS13A(NM_033305.2):c.1830G>T (p.(Glu610Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997966" "0" "50" "9" "79895085" "79895087" "del" "0" "01804" "VPS13A_000266" "g.79895085_79895087del" "" "" "" "VPS13A(NM_033305.2):c.2835_2837delGAA (p.(Lys946del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997967" "0" "50" "9" "79917953" "79917953" "subst" "4.06425E-5" "01804" "VPS13A_000267" "g.79917953T>C" "" "" "" "VPS13A(NM_033305.2):c.3935T>C (p.(Val1312Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997968" "0" "50" "9" "79972651" "79972651" "subst" "8.94091E-5" "01804" "VPS13A_000254" "g.79972651C>T" "" "" "" "VPS13A(NM_033305.2):c.7850C>T (p.(Pro2617Leu)), VPS13A(NM_033305.3):c.7850C>T (p.P2617L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997969" "0" "30" "9" "80020874" "80020874" "subst" "0.00963249" "01804" "VPS13A_000004" "g.80020874C>A" "" "" "" "VPS13A(NM_033305.2):c.9370C>A (p.(His3124Asn)), VPS13A(NM_033305.3):c.9370C>A (p.H3124N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 VPS13A ## Count = 340 "{{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}}" "0000064533" "00023859" "10" "7290" "-109" "7290" "-109" "c.7290-109G>A" "r.(?)" "p.(=)" "" "0000064534" "00023859" "50" "4630" "27" "4630" "27" "c.4630+27A>G" "r.(?)" "p.(=)" "" "0000064535" "00023859" "10" "2037" "79" "2037" "79" "c.2037+79A>G" "r.(?)" "p.(=)" "" "0000064536" "00023859" "50" "6880" "-5" "6880" "-4" "c.6880-5_6880-4dup" "r.(?)" "p.(=)" "" "0000064537" "00023859" "10" "8211" "104" "8211" "104" "c.8211+104A>G" "r.(?)" "p.(=)" "" "0000064538" "00023859" "10" "7807" "-105" "7807" "-105" "c.7807-105T>C" "r.(?)" "p.(=)" "" "0000064539" "00023859" "50" "1358" "-29" "1358" "-29" "c.1358-29A>G" "r.(?)" "p.(=)" "" "0000064540" "00023859" "10" "9027" "0" "9027" "0" "c.9027A>G" "r.(?)" "p.(=)" "" "0000064541" "00023859" "10" "7289" "83" "7289" "83" "c.7289+83G>A" "r.(?)" "p.(=)" "" "0000064542" "00023859" "10" "7027" "-54" "7027" "-54" "c.7027-54A>G" "r.(?)" "p.(=)" "" "0000064543" "00023859" "10" "6880" "-19" "6880" "-19" "c.6880-19G>C" "r.(?)" "p.(=)" "" "0000064544" "00023859" "10" "6492" "0" "6492" "0" "c.6492T>C" "r.(?)" "p.(=)" "" "0000064545" "00023859" "50" "7156" "-130" "7156" "-130" "c.7156-130T>G" "r.(?)" "p.(=)" "" "0000064546" "00023859" "10" "6379" "-22" "6379" "-22" "c.6379-22G>T" "r.(?)" "p.(=)" "" "0000064547" "00023859" "50" "1225" "-94" "1225" "-94" "c.1225-94A>G" "r.(?)" "p.(=)" "" "0000064548" "00023859" "50" "1901" "-156" "1901" "-156" "c.1901-156T>C" "r.(?)" "p.(=)" "" "0000064549" "00023859" "10" "4631" "-102" "4631" "-102" "c.4631-102T>C" "r.(?)" "p.(=)" "" "0000064550" "00023859" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "" "0000064551" "00023859" "10" "6379" "-27" "6379" "-27" "c.6379-27G>T" "r.(?)" "p.(=)" "" "0000064552" "00023859" "90" "6008" "0" "6008" "0" "c.6008C>G" "r.(?)" "p.(Ser2003*)" "" "0000064553" "00023859" "90" "9109" "0" "9109" "0" "c.9109C>T" "r.(?)" "p.(Arg3037*)" "" "0000064554" "00023859" "90" "4364" "0" "4364" "0" "c.4364dup" "r.(?)" "p.(Asn1455Lysfs*6)" "" "0000064555" "00023859" "90" "2989" "0" "2989" "0" "c.2989del" "r.(?)" "p.(His997Ilefs*8)" "" "0000064556" "00023859" "10" "8553" "31" "8553" "31" "c.8553+31G>C" "r.(?)" "p.(=)" "" "0000064557" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577del" "r.(?)" "p.(=)" "" "0000064558" "00023859" "10" "8571" "0" "8571" "0" "c.8571T>C" "r.(?)" "p.(=)" "" "0000064559" "00023859" "50" "6880" "-49" "6880" "-49" "c.6880-49A>G" "r.(?)" "p.(=)" "" "0000064560" "00023859" "50" "284" "-119" "284" "-119" "c.284-119G>A" "r.(?)" "p.(=)" "" "0000064561" "00023859" "50" "5830" "114" "5830" "119" "c.5830+114_5830+119del" "r.(?)" "p.(=)" "" "0000064562" "00023859" "90" "7214" "0" "7214" "0" "c.7214T>G" "r.(?)" "p.(Leu2405*)" "" "0000064563" "00023859" "50" "8106" "-3" "8106" "-3" "c.8106-3C>G" "r.(?)" "p.(=)" "" "0000064564" "00023859" "10" "9189" "121" "9189" "121" "c.9189+121T>C" "r.(?)" "p.(=)" "" "0000064565" "00023859" "50" "1901" "-156" "1901" "-156" "c.1901-156T>C" "r.(?)" "p.(=)" "" "0000064566" "00023859" "90" "7867" "0" "7867" "0" "c.7867C>T" "r.(?)" "p.(Arg2623*)" "" "0000064567" "00023859" "10" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" "0000064568" "00023859" "50" "8907" "116" "8907" "116" "c.8907+116dup" "r.(?)" "p.(=)" "" "0000064569" "00023859" "10" "7053" "0" "7053" "0" "c.7053T>C" "r.(?)" "p.(=)" "" "0000064570" "00023859" "10" "5625" "0" "5625" "0" "c.5625A>G" "r.(?)" "p.(=)" "" "0000064571" "00023859" "50" "5416" "-116" "5416" "-116" "c.5416-116T>C" "r.(?)" "p.(=)" "" "0000064572" "00023859" "10" "1224" "139" "1224" "139" "c.1224+139T>C" "r.(?)" "p.(=)" "" "0000064573" "00023859" "10" "2037" "191" "2037" "191" "c.2037+191T>C" "r.(?)" "p.(=)" "" "0000064574" "00023859" "10" "8554" "-66" "8554" "-66" "c.8554-66A>C" "r.(?)" "p.(=)" "" "0000064575" "00023859" "10" "6378" "15" "6378" "15" "c.6378+15A>T" "r.(?)" "p.(=)" "" "0000064576" "00023859" "10" "2288" "20" "2288" "20" "c.2288+20T>C" "r.(?)" "p.(=)" "" "0000064577" "00023859" "10" "2428" "-181" "2428" "-181" "c.2428-181A>G" "r.(?)" "p.(=)" "" "0000064578" "00023859" "50" "3813" "-15" "3813" "-15" "c.3813-15T>C" "r.(?)" "p.(=)" "" "0000064579" "00023859" "10" "2170" "68" "2170" "68" "c.2170+68T>G" "r.(?)" "p.(=)" "" "0000064580" "00023859" "10" "5917" "0" "5917" "0" "c.5917G>A" "r.(?)" "p.(Val1973Ile)" "" "0000064581" "00023859" "10" "883" "-91" "883" "-91" "c.883-91T>A" "r.(?)" "p.(=)" "" "0000064582" "00023859" "50" "2904" "247" "2904" "247" "c.2904+247del" "r.(?)" "p.(=)" "" "0000064583" "00023859" "10" "5583" "0" "5583" "0" "c.5583A>G" "r.(?)" "p.(=)" "" "0000064584" "00023859" "10" "3961" "-22" "3961" "-22" "c.3961-22A>G" "r.(?)" "p.(=)" "" "0000064585" "00023859" "10" "3961" "-6" "3961" "-6" "c.3961-6del" "r.(?)" "p.(=)" "" "0000064586" "00023859" "10" "3812" "317" "3812" "317" "c.3812+317A>G" "r.(?)" "p.(=)" "" "0000064587" "00023859" "10" "883" "-16" "883" "-16" "c.883-16A>C" "r.(?)" "p.(=)" "" "0000064588" "00023859" "90" "6606" "0" "6606" "0" "c.6606C>A" "r.(?)" "p.(Tyr2202*)" "" "0000064589" "00023859" "10" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Cys)" "" "0000064590" "00023859" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(=)" "" "0000064591" "00023859" "10" "3508" "-51" "3508" "-51" "c.3508-51A>G" "r.(?)" "p.(=)" "" "0000064592" "00023859" "10" "3508" "-38" "3508" "-38" "c.3508-38A>G" "r.(?)" "p.(=)" "" "0000064593" "00023859" "10" "883" "-16" "883" "-16" "c.883-16A>C" "r.(?)" "p.(=)" "" "0000064594" "00023859" "10" "3508" "-240" "3508" "-240" "c.3508-240T>C" "r.(?)" "p.(=)" "" "0000064595" "00023859" "90" "4162" "0" "4166" "0" "c.4162_4166delinsC" "r.(?)" "p.(Leu1388Glnfs*6)" "" "0000064596" "00023859" "10" "2170" "42" "2170" "42" "c.2170+42G>A" "r.(?)" "p.(=)" "" "0000064597" "00023859" "50" "5357" "0" "5357" "0" "c.5357T>C" "r.(?)" "p.(Leu1786Pro)" "" "0000248090" "00023859" "30" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Tyr1587Cys)" "" "0000248126" "00023859" "30" "7456" "0" "7456" "0" "c.7456A>G" "r.(?)" "p.(Ile2486Val)" "" "0000248129" "00023859" "30" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Asn259Asp)" "" "0000248306" "00023859" "10" "9069" "0" "9069" "0" "c.9069A>G" "r.(?)" "p.(Gly3023=)" "" "0000248347" "00023859" "30" "9400" "-15" "9400" "-15" "c.9400-15A>C" "r.(=)" "p.(=)" "" "0000249136" "00023859" "10" "3961" "-6" "3961" "-6" "c.3961-6dup" "r.(=)" "p.(=)" "" "0000249137" "00023859" "10" "6379" "-8" "6379" "-8" "c.6379-8dup" "r.(=)" "p.(=)" "" "0000249438" "00023859" "30" "6973" "0" "6973" "0" "c.6973A>G" "r.(?)" "p.(Ile2325Val)" "" "0000249441" "00023859" "30" "8235" "0" "8235" "0" "c.8235A>G" "r.(?)" "p.(Ile2745Met)" "" "0000249548" "00023859" "30" "2825" "-15" "2825" "-15" "c.2825-15A>T" "r.(=)" "p.(=)" "" "0000249936" "00023859" "30" "8228" "0" "8228" "0" "c.8228A>C" "r.(?)" "p.(Lys2743Thr)" "" "0000249965" "00023859" "10" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Tyr1587Cys)" "" "0000250041" "00023859" "10" "9069" "0" "9069" "0" "c.9069A>G" "r.(?)" "p.(Gly3023=)" "" "0000250111" "00023859" "10" "5583" "0" "5583" "0" "c.5583A>G" "r.(?)" "p.(Thr1861=)" "" "0000250224" "00023859" "10" "883" "-16" "883" "-16" "c.883-16A>C" "r.(=)" "p.(=)" "" "0000250225" "00023859" "10" "6378" "15" "6378" "15" "c.6378+15A>T" "r.(=)" "p.(=)" "" "0000250255" "00023859" "10" "9400" "-15" "9400" "-15" "c.9400-15A>C" "r.(=)" "p.(=)" "" "0000250300" "00023859" "30" "522" "0" "522" "0" "c.522A>G" "r.(?)" "p.(Ser174=)" "" "0000250301" "00023859" "30" "1020" "0" "1020" "0" "c.1020A>G" "r.(?)" "p.(Glu340=)" "" "0000250302" "00023859" "30" "1170" "0" "1170" "0" "c.1170A>G" "r.(?)" "p.(Glu390=)" "" "0000250303" "00023859" "30" "2391" "0" "2391" "0" "c.2391A>G" "r.(?)" "p.(Pro797=)" "" "0000250304" "00023859" "30" "2454" "0" "2454" "0" "c.2454A>G" "r.(?)" "p.(Thr818=)" "" "0000250305" "00023859" "30" "2496" "0" "2496" "0" "c.2496A>T" "r.(?)" "p.(Pro832=)" "" "0000250306" "00023859" "10" "2718" "0" "2718" "0" "c.2718A>G" "r.(?)" "p.(Val906=)" "" "0000250307" "00023859" "10" "9027" "0" "9027" "0" "c.9027A>G" "r.(?)" "p.(Pro3009=)" "" "0000250337" "00023859" "30" "6410" "0" "6410" "0" "c.6410A>G" "r.(?)" "p.(Glu2137Gly)" "" "0000250340" "00023859" "30" "2369" "0" "2369" "0" "c.2369A>G" "r.(?)" "p.(Glu790Gly)" "" "0000250448" "00023859" "10" "2964" "13" "2964" "13" "c.2964+13A>G" "r.(=)" "p.(=)" "" "0000250449" "00023859" "10" "6379" "-7" "6379" "-7" "c.6379-7A>T" "r.(=)" "p.(=)" "" "0000250450" "00023859" "30" "9400" "-17" "9400" "-17" "c.9400-17A>C" "r.(=)" "p.(=)" "" "0000250540" "00023859" "50" "476" "0" "476" "0" "c.476A>G" "r.(?)" "p.(His159Arg)" "" "0000253160" "00023859" "10" "8228" "0" "8228" "0" "c.8228A>C" "r.(?)" "p.(Lys2743Thr)" "" "0000254056" "00023859" "30" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Tyr1587Cys)" "" "0000254116" "00023859" "30" "7456" "0" "7456" "0" "c.7456A>G" "r.(?)" "p.(Ile2486Val)" "" "0000254119" "00023859" "30" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Asn259Asp)" "" "0000254486" "00023859" "30" "3514" "0" "3514" "0" "c.3514A>G" "r.(?)" "p.(Ile1172Val)" "" "0000254946" "00023859" "30" "8140" "0" "8140" "0" "c.8140A>C" "r.(?)" "p.(Arg2714=)" "" "0000255919" "00023859" "50" "7772" "0" "7772" "0" "c.7772A>T" "r.(?)" "p.(Glu2591Val)" "" "0000256568" "00023859" "50" "2140" "0" "2140" "0" "c.2140A>C" "r.(?)" "p.(Thr714Pro)" "" "0000312999" "00023859" "10" "1596" "-8" "1596" "-8" "c.1596-8dup" "r.(=)" "p.(=)" "" "0000313000" "00023859" "30" "1758" "0" "1758" "0" "c.1758T>C" "r.(?)" "p.(Ala586=)" "" "0000313001" "00023859" "10" "188" "-16" "188" "-16" "c.188-16dup" "r.(=)" "p.(=)" "" "0000313002" "00023859" "30" "2037" "8" "2037" "8" "c.2037+8C>A" "r.(=)" "p.(=)" "" "0000313003" "00023859" "30" "2170" "13" "2170" "13" "c.2170+13T>C" "r.(=)" "p.(=)" "" "0000313004" "00023859" "50" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(Leu74Ile)" "" "0000313005" "00023859" "30" "2667" "11" "2667" "11" "c.2667+11C>T" "r.(=)" "p.(=)" "" "0000313006" "00023859" "30" "3119" "-5" "3119" "-5" "c.3119-5del" "r.spl?" "p.?" "" "0000313007" "00023859" "30" "3600" "0" "3600" "0" "c.3600C>T" "r.(?)" "p.(Leu1200=)" "" "0000313008" "00023859" "30" "385" "6" "385" "15" "c.385+6_385+15del" "r.(=)" "p.(=)" "" "0000313009" "00023859" "30" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Glu1548Lys)" "" "0000313010" "00023859" "30" "5439" "0" "5439" "0" "c.5439C>T" "r.(?)" "p.(Ala1813=)" "" "0000313011" "00023859" "30" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Cys)" "" "0000313012" "00023859" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Cys)" "" "0000313013" "00023859" "30" "6379" "-17" "6379" "-17" "c.6379-17T>G" "r.(=)" "p.(=)" "" "0000313014" "00023859" "10" "6492" "0" "6492" "0" "c.6492T>C" "r.(?)" "p.(Asp2164=)" "" "0000313015" "00023859" "30" "6690" "0" "6690" "0" "c.6690C>T" "r.(?)" "p.(Asp2230=)" "" "0000313016" "00023859" "30" "6880" "-19" "6880" "-19" "c.6880-19G>C" "r.(=)" "p.(=)" "" "0000313017" "00023859" "10" "6880" "-6" "6880" "-6" "c.6880-6dup" "r.(=)" "p.(=)" "" "0000313019" "00023859" "30" "7457" "0" "7457" "0" "c.7457T>C" "r.(?)" "p.(Ile2486Thr)" "" "0000313020" "00023859" "30" "8676" "0" "8676" "0" "c.8676C>T" "r.(?)" "p.(Ile2892=)" "" "0000313021" "00023859" "50" "9189" "2563" "9189" "2577" "c.9189+2563_9189+2577del" "r.(=)" "p.(=)" "" "0000313022" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577del" "r.(=)" "p.(=)" "" "0000313024" "00023859" "30" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" "0000313025" "00023859" "10" "989" "28" "989" "28" "c.989+28dup" "r.(=)" "p.(=)" "" "0000313645" "00023859" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Gly337=)" "" "0000313646" "00023859" "30" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Leu510=)" "" "0000313647" "00023859" "10" "1596" "-8" "1596" "-8" "c.1596-8del" "r.(=)" "p.(=)" "" "0000313648" "00023859" "30" "1758" "0" "1758" "0" "c.1758T>C" "r.(?)" "p.(Ala586=)" "" "0000313649" "00023859" "10" "2037" "8" "2037" "8" "c.2037+8C>A" "r.(=)" "p.(=)" "" "0000313650" "00023859" "10" "2288" "20" "2288" "20" "c.2288+20T>C" "r.(=)" "p.(=)" "" "0000313651" "00023859" "30" "2289" "-16" "2289" "-16" "c.2289-16del" "r.(=)" "p.(=)" "" "0000313652" "00023859" "30" "2667" "11" "2667" "11" "c.2667+11C>T" "r.(=)" "p.(=)" "" "0000313653" "00023859" "10" "2667" "12" "2667" "12" "c.2667+12G>A" "r.(=)" "p.(=)" "" "0000313654" "00023859" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Pro1015=)" "" "0000313655" "00023859" "10" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Ile1036=)" "" "0000313656" "00023859" "30" "3507" "16" "3507" "20" "c.3507+16_3507+20del" "r.(=)" "p.(=)" "" "0000313657" "00023859" "10" "3645" "0" "3645" "0" "c.3645C>A" "r.(?)" "p.(Ala1215=)" "" "0000313658" "00023859" "30" "3813" "-15" "3813" "-15" "c.3813-15T>C" "r.(=)" "p.(=)" "" "0000313659" "00023859" "30" "385" "6" "385" "15" "c.385+6_385+15del" "r.(=)" "p.(=)" "" "0000313660" "00023859" "10" "3961" "-6" "3961" "-6" "c.3961-6dup" "r.(=)" "p.(=)" "" "0000313661" "00023859" "10" "3961" "-6" "3961" "-6" "c.3961-6del" "r.(=)" "p.(=)" "" "0000313663" "00023859" "30" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Arg1490Lys)" "" "0000313664" "00023859" "30" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Glu1548Lys)" "" "0000313665" "00023859" "30" "4702" "0" "4702" "0" "c.4702G>A" "r.(?)" "p.(Asp1568Asn)" "" "0000313666" "00023859" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Pro172=)" "" "0000313667" "00023859" "30" "5292" "0" "5292" "0" "c.5292G>T" "r.(?)" "p.(Leu1764=)" "" "0000313668" "00023859" "30" "5747" "0" "5747" "0" "c.5747G>A" "r.(?)" "p.(Ser1916Asn)" "" "0000313669" "00023859" "10" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Cys)" "" "0000313670" "00023859" "10" "5917" "0" "5917" "0" "c.5917G>A" "r.(?)" "p.(Val1973Ile)" "" "0000313671" "00023859" "10" "5979" "0" "5979" "0" "c.5979C>T" "r.(?)" "p.(Arg1993=)" "" "0000313672" "00023859" "10" "6027" "0" "6027" "0" "c.6027C>T" "r.(?)" "p.(Tyr2009=)" "" "0000313673" "00023859" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000313674" "00023859" "10" "615" "20" "615" "20" "c.615+20G>C" "r.(=)" "p.(=)" "" "0000313675" "00023859" "30" "6379" "-9" "6379" "-8" "c.6379-9_6379-8del" "r.(=)" "p.(=)" "" "0000313676" "00023859" "10" "6492" "0" "6492" "0" "c.6492T>C" "r.(?)" "p.(Asp2164=)" "" "0000313678" "00023859" "10" "6880" "-19" "6880" "-19" "c.6880-19G>C" "r.(=)" "p.(=)" "" "0000313679" "00023859" "30" "7155" "0" "7155" "0" "c.7155G>A" "r.(?)" "p.(Glu2385=)" "" "0000313680" "00023859" "30" "7420" "-4" "7420" "-4" "c.7420-4C>T" "r.spl?" "p.?" "" "0000313681" "00023859" "30" "7441" "0" "7441" "0" "c.7441T>G" "r.(?)" "p.(Leu2481Val)" "" "0000313682" "00023859" "10" "7457" "0" "7457" "0" "c.7457T>C" "r.(?)" "p.(Ile2486Thr)" "" "0000313683" "00023859" "30" "7633" "0" "7633" "0" "c.7633G>A" "r.(?)" "p.(Ala2545Thr)" "" "0000313684" "00023859" "10" "8472" "-12" "8472" "-12" "c.8472-12C>T" "r.(=)" "p.(=)" "" "0000313685" "00023859" "10" "8676" "0" "8676" "0" "c.8676C>T" "r.(?)" "p.(Ile2892=)" "" "0000313686" "00023859" "30" "9190" "-20" "9190" "-20" "c.9190-20C>T" "r.(=)" "p.(=)" "" "0000313687" "00023859" "10" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" "0000313688" "00023859" "30" "9382" "0" "9382" "0" "c.9382T>C" "r.(?)" "p.(Leu3128=)" "" "0000313690" "00023859" "30" "989" "27" "989" "28" "c.989+27_989+28del" "r.(=)" "p.(=)" "" "0000313691" "00023859" "10" "989" "28" "989" "28" "c.989+28del" "r.(=)" "p.(=)" "" "0000315299" "00023859" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Pro1015=)" "" "0000319640" "00023859" "10" "101" "-7" "101" "-7" "c.101-7T>C" "r.(=)" "p.(=)" "" "0000319641" "00023859" "30" "1758" "0" "1758" "0" "c.1758T>C" "r.(?)" "p.(Ala586=)" "" "0000319642" "00023859" "30" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776Gln)" "" "0000319643" "00023859" "30" "2500" "0" "2500" "0" "c.2500G>C" "r.(?)" "p.(Val834Leu)" "" "0000319644" "00023859" "30" "3645" "0" "3645" "0" "c.3645C>A" "r.(?)" "p.(Ala1215=)" "" "0000319645" "00023859" "30" "4390" "0" "4390" "0" "c.4390C>A" "r.(?)" "p.(His1464Asn)" "" "0000319646" "00023859" "30" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Glu1548Lys)" "" "0000319647" "00023859" "30" "5184" "0" "5184" "0" "c.5184T>C" "r.(?)" "p.(Ser1728=)" "" "0000319648" "00023859" "30" "5454" "0" "5454" "0" "c.5454T>C" "r.(?)" "p.(Asp1818=)" "" "0000319649" "00023859" "30" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Cys)" "" "0000319650" "00023859" "50" "6613" "0" "6613" "0" "c.6613G>T" "r.(?)" "p.(Gly2205Cys)" "" "0000319651" "00023859" "30" "6690" "0" "6690" "0" "c.6690C>T" "r.(?)" "p.(Asp2230=)" "" "0000319652" "00023859" "50" "682" "0" "682" "0" "c.682del" "r.(?)" "p.(Tyr228MetfsTer8)" "" "0000319653" "00023859" "30" "7821" "0" "7821" "0" "c.7821T>C" "r.(?)" "p.(Pro2607=)" "" "0000319654" "00023859" "30" "8223" "0" "8223" "0" "c.8223T>C" "r.(?)" "p.(Phe2741=)" "" "0000319655" "00023859" "50" "9189" "2563" "9189" "2577" "c.9189+2563_9189+2577del" "r.(=)" "p.(=)" "" "0000319656" "00023859" "30" "9189" "2566" "9189" "2577" "c.9189+2566_9189+2577del" "r.(=)" "p.(=)" "" "0000319657" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577del" "r.(=)" "p.(=)" "" "0000346908" "00023859" "90" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Ter)" "" "0000350401" "00023859" "50" "6593" "0" "6593" "0" "c.6593T>G" "r.(?)" "p.(Val2198Gly)" "" "0000356921" "00023859" "90" "4326" "0" "4326" "0" "c.4326T>A" "r.(?)" "p.(Tyr1442*)" "" "0000538496" "00023859" "50" "145" "-16" "145" "-16" "c.145-16T>G" "r.(=)" "p.(=)" "" "0000538497" "00023859" "30" "188" "-15" "188" "-15" "c.188-15C>T" "r.(=)" "p.(=)" "" "0000538498" "00023859" "30" "283" "20" "283" "20" "c.283+20del" "r.(=)" "p.(=)" "" "0000538499" "00023859" "30" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Trp)" "" "0000538500" "00023859" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Met184Val)" "" "0000538501" "00023859" "30" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Asn259Asp)" "" "0000538502" "00023859" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Ala327=)" "" "0000538503" "00023859" "10" "989" "28" "989" "28" "c.989+28dup" "r.(=)" "p.(=)" "" "0000538504" "00023859" "50" "1303" "0" "1303" "0" "c.1303T>C" "r.(?)" "p.(Trp435Arg)" "" "0000538505" "00023859" "30" "1303" "0" "1303" "0" "c.1303T>C" "r.(?)" "p.(Trp435Arg)" "" "0000538506" "00023859" "30" "1358" "-4" "1358" "-4" "c.1358-4G>A" "r.spl?" "p.?" "" "0000538507" "00023859" "30" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Arg606Lys)" "" "0000538508" "00023859" "30" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Arg606Lys)" "" "0000538509" "00023859" "50" "2007" "0" "2007" "0" "c.2007T>G" "r.(?)" "p.(Asn669Lys)" "" "0000538510" "00023859" "30" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Ser734Asn)" "" "0000538511" "00023859" "90" "2250" "0" "2253" "0" "c.2250_2253del" "r.(?)" "p.(Ser751ArgfsTer8)" "" "0000538512" "00023859" "10" "2693" "0" "2693" "0" "c.2693T>C" "r.(?)" "p.(Val898Ala)" "" "0000538513" "00023859" "30" "2814" "0" "2814" "0" "c.2814A>G" "r.(?)" "p.(Pro938=)" "" "0000538514" "00023859" "30" "2814" "0" "2814" "0" "c.2814A>G" "r.(?)" "p.(Pro938=)" "" "0000538515" "00023859" "30" "3083" "0" "3083" "0" "c.3083A>G" "r.(?)" "p.(Glu1028Gly)" "" "0000538516" "00023859" "50" "3193" "0" "3193" "0" "c.3193A>G" "r.(?)" "p.(Ile1065Val)" "" "0000538517" "00023859" "50" "3356" "0" "3356" "0" "c.3356G>A" "r.(?)" "p.(Gly1119Glu)" "" "0000538518" "00023859" "30" "3356" "0" "3356" "0" "c.3356G>A" "r.(?)" "p.(Gly1119Glu)" "" "0000538519" "00023859" "30" "3502" "0" "3502" "0" "c.3502A>G" "r.(?)" "p.(Ile1168Val)" "" "0000538520" "00023859" "30" "4041" "0" "4041" "0" "c.4041C>T" "r.(?)" "p.(Ala1347=)" "" "0000538521" "00023859" "30" "4509" "0" "4509" "0" "c.4509A>G" "r.(?)" "p.(Gln1503=)" "" "0000538522" "00023859" "30" "4599" "0" "4599" "0" "c.4599C>G" "r.(?)" "p.(Thr1533=)" "" "0000538523" "00023859" "30" "4716" "0" "4716" "0" "c.4716T>C" "r.(?)" "p.(Asn1572=)" "" "0000538524" "00023859" "30" "5047" "0" "5047" "0" "c.5047A>G" "r.(?)" "p.(Thr1683Ala)" "" "0000538525" "00023859" "30" "5264" "0" "5264" "0" "c.5264G>A" "r.(?)" "p.(Gly1755Asp)" "" "0000538526" "00023859" "30" "5597" "0" "5597" "0" "c.5597G>C" "r.(?)" "p.(Gly1866Ala)" "" "0000538527" "00023859" "30" "5830" "3" "5830" "3" "c.5830+3A>G" "r.spl?" "p.?" "" "0000538528" "00023859" "30" "6096" "-16" "6096" "-16" "c.6096-16A>T" "r.(=)" "p.(=)" "" "0000538529" "00023859" "30" "6096" "-7" "6096" "-7" "c.6096-7C>T" "r.(=)" "p.(=)" "" "0000538530" "00023859" "30" "6277" "0" "6277" "0" "c.6277G>A" "r.(?)" "p.(Val2093Met)" "" "0000538531" "00023859" "50" "6378" "0" "6378" "0" "c.6378G>C" "r.(?)" "p.(Glu2126Asp)" "" "0000538532" "00023859" "30" "6378" "14" "6378" "14" "c.6378+14G>T" "r.(=)" "p.(=)" "" "0000538533" "00023859" "30" "6379" "-17" "6379" "-17" "c.6379-17T>G" "r.(=)" "p.(=)" "" "0000538534" "00023859" "30" "6410" "0" "6410" "0" "c.6410A>G" "r.(?)" "p.(Glu2137Gly)" "" "0000538535" "00023859" "50" "6500" "0" "6500" "0" "c.6500G>A" "r.(?)" "p.(Ser2167Asn)" "" "0000538536" "00023859" "30" "6500" "0" "6500" "0" "c.6500G>A" "r.(?)" "p.(Ser2167Asn)" "" "0000538537" "00023859" "30" "6558" "0" "6558" "0" "c.6558T>C" "r.(?)" "p.(Val2186=)" "" "0000538538" "00023859" "10" "6880" "-6" "6880" "-6" "c.6880-6dup" "r.(=)" "p.(=)" "" "0000538539" "00023859" "70" "6893" "0" "6896" "0" "c.6893_6896dup" "r.(?)" "p.(Leu2300ArgfsTer6)" "" "0000538540" "00023859" "30" "6973" "0" "6973" "0" "c.6973A>G" "r.(?)" "p.(Ile2325Val)" "" "0000538541" "00023859" "50" "7078" "0" "7078" "0" "c.7078G>A" "r.(?)" "p.(Glu2360Lys)" "" "0000538542" "00023859" "50" "7096" "0" "7096" "0" "c.7096C>T" "r.(?)" "p.(Pro2366Ser)" "" "0000538544" "00023859" "30" "7289" "0" "7289" "0" "c.7289G>A" "r.(?)" "p.(Ser2430Asn)" "" "0000538545" "00023859" "30" "7420" "-7" "7420" "-7" "c.7420-7A>T" "r.(=)" "p.(=)" "" "0000538547" "00023859" "30" "7637" "0" "7637" "0" "c.7637A>T" "r.(?)" "p.(Tyr2546Phe)" "" "0000538548" "00023859" "30" "7806" "6" "7806" "6" "c.7806+6A>G" "r.(=)" "p.(=)" "" "0000538549" "00023859" "30" "7920" "0" "7920" "0" "c.7920A>G" "r.(?)" "p.(Gln2640=)" "" "0000538550" "00023859" "30" "8105" "16" "8105" "17" "c.8105+16_8105+17dup" "r.(=)" "p.(=)" "" "0000538551" "00023859" "10" "8571" "0" "8571" "0" "c.8571T>C" "r.(?)" "p.(Tyr2857=)" "" "0000538552" "00023859" "30" "9077" "8" "9077" "8" "c.9077+8C>G" "r.(=)" "p.(=)" "" "0000538553" "00023859" "10" "9150" "0" "9150" "0" "c.9150G>A" "r.(?)" "p.(Pro3050=)" "" "0000538554" "00023859" "30" "9150" "0" "9150" "0" "c.9150G>A" "r.(?)" "p.(Pro3050=)" "" "0000538555" "00023859" "30" "9176" "0" "9176" "0" "c.9176A>G" "r.(?)" "p.(Asn3059Ser)" "" "0000538556" "00023859" "30" "9176" "0" "9176" "0" "c.9176A>G" "r.(?)" "p.(Asn3059Ser)" "" "0000538558" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577dup" "r.(=)" "p.(=)" "" "0000538559" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577dup" "r.(=)" "p.(=)" "" "0000538560" "00023859" "30" "9335" "0" "9335" "0" "c.9335G>A" "r.(?)" "p.(Ser3112Asn)" "" "0000578375" "00023859" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208*)" "9" "0000578376" "00023859" "90" "4419" "0" "4419" "0" "c.4419dupdup" "r.(?)" "p.(Gly1474Argfs*7)" "38" "0000578378" "00023859" "90" "4354" "0" "4354" "0" "c.4354T>C" "r.(?)" "p.(Ser1452Pro)" "37" "0000578379" "00023859" "90" "1592" "0" "1592" "0" "c.1592del" "r.(?)" "p.(Ile531Lysfs*7)" "17" "0000578380" "00023859" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Ile90Lys)" "" "0000578381" "00023859" "90" "6404" "0" "6404" "0" "c.6404dup" "r.(?)" "p.(Ser2136Lysfs*2)" "" "0000578382" "00023859" "90" "3556" "0" "3557" "0" "c.3556_3557dup" "r.(?)" "p.(Val1187Leufs*12)" "" "0000578383" "00023859" "90" "6700" "0" "6700" "0" "c.6700C>T" "r.(?)" "p.(Arg2234*)" "" "0000578384" "00023859" "90" "6775" "-2" "6775" "-2" "c.6775-2A>C" "r.spl" "p.?" "" "0000578387" "00023859" "90" "9109" "0" "9109" "0" "c.9109C>T" "r.(?)" "p.(Arg3037*)" "" "0000578388" "00023859" "90" "9287" "0" "9290" "0" "c.9287_9290dup" "r.(?)" "p.(Thr3098Cysfs*12)" "" "0000578389" "00023859" "90" "1115" "0" "1115" "0" "c.1115del" "r.(?)" "p.(Lys372Serfs*2)" "" "0000578390" "00023859" "90" "8162" "0" "8162" "0" "c.8162A>G" "r.(?)" "p.(Tyr2721Cys)" "" "0000578391" "00023859" "90" "2833" "0" "2834" "0" "c.2833_2834del" "r.(?)" "p.(Lys945Glufs*11)" "" "0000578392" "00023859" "90" "237" "0" "237" "0" "c.237del" "r.(?)" "p.(Glu80Lysfs*11)" "" "0000578393" "00023859" "90" "9429" "0" "9432" "0" "c.9429_9432del" "r.(?)" "p.(Arg3143Serfs*5)" "" "0000612169" "00023859" "30" "126" "0" "126" "0" "c.126A>G" "r.(?)" "p.(Gln42=)" "" "0000612170" "00023859" "30" "228" "0" "228" "0" "c.228T>C" "r.(?)" "p.(Thr76=)" "" "0000612171" "00023859" "50" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Cys)" "" "0000612172" "00023859" "30" "2910" "0" "2910" "0" "c.2910A>G" "r.(?)" "p.(Glu970=)" "" "0000612173" "00023859" "30" "4590" "0" "4590" "0" "c.4590T>G" "r.(?)" "p.(Ala1530=)" "" "0000612174" "00023859" "10" "7420" "-16" "7420" "-16" "c.7420-16G>T" "r.(=)" "p.(=)" "" "0000612175" "00023859" "30" "8368" "0" "8368" "0" "c.8368A>G" "r.(?)" "p.(Lys2790Glu)" "" "0000612176" "00023859" "30" "9078" "-7" "9078" "-7" "c.9078-7C>T" "r.(=)" "p.(=)" "" "0000622290" "00023859" "30" "2170" "13" "2170" "13" "c.2170+13T>C" "r.(=)" "p.(=)" "" "0000622291" "00023859" "50" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Ala730Val)" "" "0000622292" "00023859" "30" "4590" "0" "4590" "0" "c.4590T>G" "r.(?)" "p.(Ala1530=)" "" "0000622293" "00023859" "30" "5844" "0" "5844" "0" "c.5844T>C" "r.(?)" "p.(His1948=)" "" "0000622294" "00023859" "30" "7149" "0" "7149" "0" "c.7149T>C" "r.(?)" "p.(Asp2383=)" "" "0000622295" "00023859" "50" "7340" "0" "7340" "0" "c.7340A>G" "r.(?)" "p.(Tyr2447Cys)" "" "0000652742" "00023859" "30" "5917" "0" "5917" "0" "c.5917G>A" "" "p.(Val1973Ile)" "" "0000652743" "00023859" "30" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" "0000656382" "00023859" "10" "5625" "0" "5625" "0" "c.5625A>G" "r.(?)" "p.(Leu1875=)" "" "0000656383" "00023859" "10" "7053" "0" "7053" "0" "c.7053T>C" "r.(?)" "p.(Ala2351=)" "" "0000670070" "00023859" "30" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" "0000678711" "00023859" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000678712" "00023859" "30" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Glu1302Lys)" "" "0000678713" "00023859" "30" "4710" "0" "4710" "0" "c.4710A>C" "r.(?)" "p.(Thr1570=)" "" "0000678714" "00023859" "30" "5292" "0" "5292" "0" "c.5292G>T" "r.(?)" "p.(Leu1764=)" "" "0000678715" "00023859" "50" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Ala1876Thr)" "" "0000678716" "00023859" "50" "7633" "0" "7633" "0" "c.7633G>A" "r.(?)" "p.(Ala2545Thr)" "" "0000678717" "00023859" "50" "8018" "0" "8018" "0" "c.8018C>T" "r.(?)" "p.(Ser2673Leu)" "" "0000686387" "00023859" "55" "7187" "0" "7187" "0" "c.7187C>T" "r.(?)" "p.(Ala2396Val)" "" "0000690587" "00023859" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000690588" "00023859" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Tyr365Cys)" "" "0000690589" "00023859" "50" "5416" "-1" "5416" "-1" "c.5416-1G>T" "r.spl?" "p.?" "" "0000690590" "00023859" "50" "5471" "0" "5471" "0" "c.5471A>G" "r.(?)" "p.(Tyr1824Cys)" "" "0000690591" "00023859" "30" "5765" "0" "5765" "0" "c.5765C>A" "r.(?)" "p.(Thr1922Asn)" "" "0000690592" "00023859" "30" "5884" "0" "5884" "0" "c.5884C>T" "r.(?)" "p.(Arg1962Cys)" "" "0000711875" "00023859" "70" "283" "1" "283" "1" "c.283+1G>A" "r.spl?" "p.?" "" "0000711876" "00023859" "70" "9078" "-2" "9078" "-2" "c.9078-2A>G" "r.spl?" "p.?" "" "0000722570" "00023859" "30" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Leu510=)" "" "0000722571" "00023859" "30" "2124" "0" "2124" "0" "c.2124A>G" "r.(?)" "p.(Ser708=)" "" "0000722572" "00023859" "50" "4702" "0" "4702" "0" "c.4702G>A" "r.(?)" "p.(Asp1568Asn)" "" "0000722573" "00023859" "30" "7420" "-13" "7420" "-13" "c.7420-13G>T" "r.(=)" "p.(=)" "" "0000804197" "00023859" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Glu289Lys)" "" "0000804198" "00023859" "50" "5265" "0" "5265" "0" "c.5265C>T" "r.(?)" "p.(Gly1755=)" "" "0000804199" "00023859" "30" "6452" "0" "6452" "0" "c.6452C>T" "r.(?)" "p.(Ala2151Val)" "" "0000804200" "00023859" "30" "7420" "-4" "7420" "-4" "c.7420-4C>A" "r.spl?" "p.?" "" "0000804201" "00023859" "50" "7850" "0" "7850" "0" "c.7850C>T" "r.(?)" "p.(Pro2617Leu)" "" "0000852316" "00023859" "10" "1596" "-8" "1596" "-8" "c.1596-8dup" "r.(=)" "p.(=)" "" "0000852317" "00023859" "30" "1704" "0" "1704" "0" "c.1704A>T" "r.(?)" "p.(Thr568=)" "" "0000852318" "00023859" "30" "2496" "0" "2496" "0" "c.2496A>T" "r.(?)" "p.(Pro832=)" "" "0000852319" "00023859" "30" "6167" "0" "6167" "0" "c.6167T>C" "r.(?)" "p.(Ile2056Thr)" "" "0000861738" "00023859" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(Pro172=)" "" "0000861739" "00023859" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Met184Val)" "" "0000861740" "00023859" "30" "2512" "10" "2512" "10" "c.2512+10A>T" "r.(=)" "p.(=)" "" "0000861741" "00023859" "30" "3328" "0" "3328" "0" "c.3328A>T" "r.(?)" "p.(Ile1110Leu)" "" "0000861742" "00023859" "30" "5115" "0" "5115" "0" "c.5115A>G" "r.(?)" "p.(Glu1705=)" "" "0000861743" "00023859" "30" "6039" "0" "6039" "0" "c.6039C>A" "r.(?)" "p.(Thr2013=)" "" "0000870224" "00023859" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "11" "0000876710" "00023859" "90" "7170" "0" "7171" "0" "c.7170_7171insAA" "r.(?)" "p.(Ala2391LysfsTer4)" "" "0000876711" "00023859" "90" "9312" "0" "9312" "0" "c.9312del" "r.(?)" "p.(Gln3104HisfsTer33)" "" "0000888900" "00023859" "30" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(Lys752=)" "" "0000913180" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577del" "r.(=)" "p.(=)" "" "0000925070" "00023859" "10" "5917" "0" "5917" "0" "c.5917G>A" "r.(?)" "p.(Val1973Ile)" "" "0000925071" "00023859" "10" "9189" "2575" "9189" "2577" "c.9189+2575_9189+2577dup" "r.(=)" "p.(=)" "" "0000997964" "00023859" "50" "288" "0" "288" "0" "c.288A>G" "r.(?)" "p.(Ile96Met)" "" "0000997965" "00023859" "30" "1830" "0" "1830" "0" "c.1830G>T" "r.(?)" "p.(Glu610Asp)" "" "0000997966" "00023859" "50" "2835" "0" "2837" "0" "c.2835_2837del" "r.(?)" "p.(Lys946del)" "" "0000997967" "00023859" "50" "3935" "0" "3935" "0" "c.3935T>C" "r.(?)" "p.(Val1312Ala)" "" "0000997968" "00023859" "50" "7850" "0" "7850" "0" "c.7850C>T" "r.(?)" "p.(Pro2617Leu)" "" "0000997969" "00023859" "30" "9370" "0" "9370" "0" "c.9370C>A" "r.(?)" "p.(His3124Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 90 "{{screeningid}}" "{{variantid}}" "0000037408" "0000064533" "0000037409" "0000064534" "0000037410" "0000064535" "0000037411" "0000064536" "0000037412" "0000064537" "0000037413" "0000064538" "0000037414" "0000064539" "0000037415" "0000064540" "0000037416" "0000064541" "0000037417" "0000064542" "0000037418" "0000064543" "0000037419" "0000064544" "0000037420" "0000064545" "0000037421" "0000064546" "0000037422" "0000064547" "0000037423" "0000064548" "0000037424" "0000064549" "0000037425" "0000064550" "0000037426" "0000064551" "0000037427" "0000064552" "0000037428" "0000064553" "0000037429" "0000064554" "0000037430" "0000064555" "0000037431" "0000064556" "0000037432" "0000064557" "0000037433" "0000064558" "0000037434" "0000064559" "0000037435" "0000064560" "0000037436" "0000064561" "0000037437" "0000064562" "0000037438" "0000064563" "0000037439" "0000064564" "0000037440" "0000064565" "0000037441" "0000064566" "0000037442" "0000064567" "0000037443" "0000064568" "0000037444" "0000064569" "0000037445" "0000064570" "0000037446" "0000064571" "0000037447" "0000064572" "0000037448" "0000064573" "0000037449" "0000064574" "0000037450" "0000064575" "0000037451" "0000064576" "0000037452" "0000064577" "0000037453" "0000064578" "0000037454" "0000064579" "0000037455" "0000064580" "0000037456" "0000064581" "0000037457" "0000064582" "0000037458" "0000064583" "0000037459" "0000064584" "0000037460" "0000064585" "0000037461" "0000064586" "0000037462" "0000064587" "0000037463" "0000064588" "0000037464" "0000064589" "0000037465" "0000064590" "0000037466" "0000064591" "0000037467" "0000064592" "0000037468" "0000064593" "0000037469" "0000064594" "0000037470" "0000064595" "0000037471" "0000064596" "0000037472" "0000064597" "0000155836" "0000356921" "0000249576" "0000578375" "0000249576" "0000578376" "0000249577" "0000578378" "0000249578" "0000578379" "0000249579" "0000578380" "0000249579" "0000578381" "0000249580" "0000578382" "0000249581" "0000578383" "0000249581" "0000578384" "0000249582" "0000578387" "0000249582" "0000578388" "0000249583" "0000578389" "0000249584" "0000578390" "0000249585" "0000578391" "0000249586" "0000578392" "0000249586" "0000578393" "0000296053" "0000652742" "0000296054" "0000652743" "0000306382" "0000670070" "0000311099" "0000686387" "0000328030" "0000711875" "0000328030" "0000711876" "0000412851" "0000870224" "0000412852" "0000870224"