### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATXN3) # 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}}" "ATXN3" "ataxin 3" "14" "q21" "unknown" "NG_008198.2" "UD_132118716308" "" "https://www.LOVD.nl/ATXN3" "" "1" "7106" "4287" "607047" "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/ATXN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-05 13:45:28" "00000" "2023-04-16 21:50:28" ## 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}}" "00003163" "ATXN3" "transcript variant reference" "030" "NM_004993.5" "" "NP_004984.2" "" "" "" "-69" "6854" "1086" "92572965" "92524896" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01190" "MJD;SCA3" "disease, Machado-Joseph (MJD, spinocerebellar ataxia 3 (SCA-3))" "AD" "109150" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATXN3" "01190" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00148530" "" "" "" "2" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148531" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "" "" "0" "" "" "European" "8824876-con" "00148532" "" "" "" "12" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148533" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148534" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148535" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148536" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148537" "" "" "" "9" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148538" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148539" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148540" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148541" "" "" "" "1" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148542" "" "" "" "8" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148543" "" "" "" "6" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148544" "" "" "" "3" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00148545" "" "" "" "4" "" "00006" "{PMID:Limprasert 1996:8824876}" "" "" "" "Thailand" "" "0" "" "" "" "8824876-con" "00249736" "" "" "" "1" "" "00006" "{PMID:Rafehi 2019:31230722}" "" "M" "" "Martinique" "" "0" "" "" "" "CANVAS13" "00249747" "" "" "" "7" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "72 control chromosomes" "" "" "Japan" "" "0" "" "" "" "control" "00249748" "" "" "" "3" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "3-generation family, 3 affected (2F, M)" "F" "" "Japan" "" "0" "" "" "" "Fam1PatI" "00249749" "" "" "00249748" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "Fam1PatII" "00249750" "" "" "00249748" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "M" "" "Japan" "" "0" "" "" "" "Fam1PatIII" "00249751" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatIV" "00249752" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatV" "00249753" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatVI" "00249754" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatVII" "00249755" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatVIII" "00249756" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "M" "" "Japan" "" "0" "" "" "" "PatIX" "00249757" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "M" "" "Japan" "" "0" "" "" "" "PatX" "00249758" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "F" "" "Japan" "" "0" "" "" "" "PatXI" "00249759" "" "" "" "1" "" "00006" "{PMID:Kawaguchi 1994:7874163}" "" "M" "" "Japan" "" "0" "" "" "" "PatXII" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00148530" "00000" "00148531" "00000" "00148532" "00000" "00148533" "00000" "00148534" "00000" "00148535" "00000" "00148536" "00000" "00148537" "00000" "00148538" "00000" "00148539" "00000" "00148540" "00000" "00148541" "00000" "00148542" "00000" "00148543" "00000" "00148544" "00000" "00148545" "04167" "00249736" "05356" "00249747" "00000" "00249748" "04167" "00249749" "04167" "00249750" "04167" "00249751" "04167" "00249752" "04167" "00249753" "04167" "00249754" "04167" "00249755" "04167" "00249756" "04167" "00249757" "04167" "00249758" "04167" "00249759" "04167" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01190, 04167, 05356 ## Count = 14 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000120973" "04167" "00148545" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000188606" "05356" "00249736" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "SCA-3" "cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" "0000188617" "04167" "00249748" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188618" "04167" "00249749" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188619" "04167" "00249750" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188620" "04167" "00249751" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188621" "04167" "00249752" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188622" "04167" "00249753" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188623" "04167" "00249754" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188624" "04167" "00249755" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188625" "04167" "00249756" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188626" "04167" "00249757" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188627" "04167" "00249758" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" "0000188628" "04167" "00249759" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "MJD" "Machado-Joseph disease" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000149386" "00148530" "1" "00006" "00006" "2018-01-05 14:04:26" "" "" "SEQ" "DNA" "" "" "0000149387" "00148531" "1" "00006" "00006" "2018-01-05 14:13:32" "" "" "SEQ" "DNA" "" "" "0000149388" "00148532" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149389" "00148533" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149390" "00148534" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149391" "00148535" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149392" "00148536" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149393" "00148537" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149394" "00148538" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149395" "00148539" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149396" "00148540" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149397" "00148541" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149398" "00148542" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149399" "00148543" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149400" "00148544" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000149401" "00148545" "1" "00006" "00006" "2018-01-05 14:39:43" "" "" "SEQ" "DNA" "" "" "0000250843" "00249736" "1" "00006" "00006" "2019-08-02 11:14:58" "00006" "2019-08-02 11:41:49" "PCR;SEQ;Southern" "DNA" "" "WES" "0000250854" "00249747" "1" "00006" "00006" "2019-08-02 12:38:22" "" "" "SEQ" "DNA" "" "" "0000250855" "00249748" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250856" "00249749" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250857" "00249750" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250858" "00249751" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250859" "00249752" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250860" "00249753" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250861" "00249754" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250862" "00249755" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250863" "00249756" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250864" "00249757" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250865" "00249758" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" "0000250866" "00249759" "1" "00006" "00006" "2019-08-02 13:31:07" "" "" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000149386" "ATXN3" "0000149387" "ATXN3" "0000149388" "ATXN3" "0000149389" "ATXN3" "0000149390" "ATXN3" "0000149391" "ATXN3" "0000149392" "ATXN3" "0000149393" "ATXN3" "0000149394" "ATXN3" "0000149395" "ATXN3" "0000149396" "ATXN3" "0000149397" "ATXN3" "0000149398" "ATXN3" "0000149399" "ATXN3" "0000149400" "ATXN3" "0000149401" "ATXN3" "0000250843" "ATXN3" "0000250843" "RFC1" "0000250854" "ATXN3" "0000250855" "ATXN3" "0000250856" "ATXN3" "0000250857" "ATXN3" "0000250858" "ATXN3" "0000250859" "ATXN3" "0000250860" "ATXN3" "0000250861" "ATXN3" "0000250862" "ATXN3" "0000250863" "ATXN3" "0000250864" "ATXN3" "0000250865" "ATXN3" "0000250866" "ATXN3" ## 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 = 95 "{{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}}" "0000242734" "0" "10" "14" "92537294" "92537494" "dup" "0" "00006" "ATXN3_000001" "g.92537294_92537494insN[15]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[15]" "" "benign" "" "0000242735" "0" "10" "14" "92537294" "92537494" "dup" "0" "00006" "ATXN3_000002" "g.92537294_92537494insN[24]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[24]" "" "benign" "" "0000242736" "1" "90" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000003" "g.92537294_92537494ins[(177_192)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(177_192)]" "" "pathogenic (dominant)" "" "0000242737" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242744" "1" "10" "14" "92537294" "92537494" "" "0" "00006" "ATXN3_000000" "g.92537294_92537494insN[0]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[0]" "" "benign" "" "0000242745" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000005" "g.92537294_92537494ins[(3_15)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(3_15)]" "" "benign" "" "0000242746" "0" "10" "14" "92537294" "92537494" "dup" "0" "00006" "ATXN3_000006" "g.92537294_92537494insN[18]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[18]" "" "benign" "" "0000242747" "1" "10" "14" "92537294" "92537494" "dup" "0" "00006" "ATXN3_000007" "g.92537294_92537494insN[21]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[21]" "" "benign" "" "0000242748" "1" "10" "14" "92537294" "92537494" "dup" "0" "00006" "ATXN3_000007" "g.92537294_92537494insN[21]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[21]" "" "benign" "" "0000242749" "0" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000008" "g.92537294_92537494insN[27]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[27]" "" "benign" "" "0000242750" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000008" "g.92537294_92537494insN[27]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[27]" "" "benign" "" "0000242751" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000009" "g.92537294_92537494ins[(30_36)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(30_36)]" "" "benign" "" "0000242752" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000010" "g.92537294_92537494insN[39]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150insN[39]" "" "benign" "" "0000242753" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000011" "g.92537294_92537494ins[(42_48)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(42_48)]" "" "benign" "" "0000242754" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000011" "g.92537294_92537494ins[(42_48)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(42_48)]" "" "benign" "" "0000242755" "1" "10" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000009" "g.92537294_92537494ins[(51_63)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(51_63)]" "" "benign" "" "0000242756" "1" "30" "14" "92537294" "92537494" "ins" "0" "00006" "ATXN3_000012" "g.92537294_92537494ins[(66_78)]" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92070950_92071150ins[(66_78)]" "" "likely benign" "" "0000242757" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242758" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242759" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242760" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242761" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000242762" "1" "10" "14" "92537354" "92537354" "subst" "0" "00006" "ATXN3_000004" "g.92537354C>G" "" "{PMID:Limprasert 1996:8824876}" "" "" "" "Germline" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000250316" "0" "30" "14" "92548744" "92548744" "subst" "0" "02329" "ATXN3_000033" "g.92548744A>G" "" "" "" "ATXN3(NM_004993.6):c.675T>C (p.D225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92082400A>G" "" "likely benign" "" "0000252239" "0" "30" "14" "92555167" "92555167" "subst" "0" "02326" "ATXN3_000037" "g.92555167A>G" "" "" "" "ATXN3(NM_004993.6):c.388-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92088823A>G" "" "likely benign" "" "0000260287" "0" "10" "14" "92559678" "92559678" "subst" "0.396013" "02329" "ATXN3_000038" "g.92559678G>C" "" "" "" "ATXN3(NM_004993.6):c.321-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92093334G>C" "" "benign" "" "0000260288" "0" "10" "14" "92549586" "92549586" "subst" "0.493744" "02329" "ATXN3_000035" "g.92549586G>A" "" "" "" "ATXN3(NM_004993.6):c.492C>T (p.V164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92083242G>A" "" "benign" "" "0000260289" "0" "10" "14" "92548785" "92548785" "subst" "0.266466" "02329" "ATXN3_000034" "g.92548785C>T" "" "" "" "ATXN3(NM_004993.6):c.634G>A (p.V212M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92082441C>T" "" "benign" "" "0000260290" "0" "10" "14" "92547425" "92547425" "subst" "0.269972" "02329" "ATXN3_000031" "g.92547425C>G" "" "" "" "ATXN3(NM_004993.6):c.776-20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92081081C>G" "" "benign" "" "0000261320" "0" "30" "14" "92530750" "92530750" "subst" "0.000544034" "02326" "ATXN3_000013" "g.92530750T>C" "" "" "" "ATXN3(NM_004993.6):c.1000A>G (p.M334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92064406T>C" "" "likely benign" "" "0000261322" "0" "10" "14" "92563269" "92563269" "dup" "0" "02326" "ATXN3_000042" "g.92563269dup" "" "" "" "ATXN3(NM_004993.6):c.25-73dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92096925dup" "" "benign" "" "0000261323" "0" "10" "14" "92537379" "92537379" "subst" "0" "02326" "ATXN3_000029" "g.92537379T>C" "" "" "" "ATXN3(NM_001164778.2):c.406A>G (p.T136A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92071035T>C" "" "benign" "" "0000261326" "0" "10" "14" "92537354" "92537354" "subst" "0" "02326" "ATXN3_000004" "g.92537354C>G" "" "" "" "ATXN3(NM_004993.6):c.916G>C (p.G306R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92071010C>G" "" "benign" "" "0000263443" "0" "50" "14" "92560117" "92560117" "subst" "0" "01943" "ATXN3_000039" "g.92560117T>A" "" "" "" "ATXN3(NM_004993.5):c.293A>T (p.E98V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92093773T>A" "" "VUS" "" "0000263444" "0" "10" "14" "92537397" "92537397" "del" "0" "01943" "ATXN3_000030" "g.92537397del" "" "" "" "ATXN3(NM_004993.5):c.873delA (p.K291Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92071053del" "" "benign" "" "0000323820" "0" "50" "14" "92548717" "92548717" "subst" "0.00182359" "01804" "ATXN3_000032" "g.92548717T>C" "" "" "" "ATXN3(NM_001127696.1):c.657A>G (p.(=)), ATXN3(NM_004993.5):c.702A>G (p.A234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92082373T>C" "" "VUS" "" "0000323822" "0" "50" "14" "92563159" "92563159" "subst" "0.00190452" "01804" "ATXN3_000041" "g.92563159T>C" "" "" "" "ATXN3(NM_001127696.1):c.48A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.92096815T>C" "" "VUS" "" "0000553391" "0" "10" "14" "92537353" "92537354" "ins" "0" "01943" "ATXN3_000043" "g.92537353_92537354insG" "" "" "" "ATXN3(NM_004993.5):c.916_917insC (p.G306Afs*12), ATXN3(NM_004993.6):c.916_917insC (p.G306Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071009_92071010insG" "" "benign" "" "0000553392" "0" "10" "14" "92537353" "92537354" "ins" "0" "02326" "ATXN3_000043" "g.92537353_92537354insG" "" "" "" "ATXN3(NM_004993.5):c.916_917insC (p.G306Afs*12), ATXN3(NM_004993.6):c.916_917insC (p.G306Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071009_92071010insG" "" "benign" "" "0000553393" "0" "10" "14" "92537353" "92537354" "ins" "0" "02329" "ATXN3_000043" "g.92537353_92537354insG" "" "" "" "ATXN3(NM_004993.5):c.916_917insC (p.G306Afs*12), ATXN3(NM_004993.6):c.916_917insC (p.G306Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071009_92071010insG" "" "benign" "" "0000553394" "0" "10" "14" "92537354" "92537355" "ins" "0" "01943" "ATXN3_000044" "g.92537354_92537355insTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916insCAGCAGCAGCAGCAGCA (p.G306Qfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553396" "0" "10" "14" "92537354" "92537355" "ins" "0" "01943" "ATXN3_000045" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*32), ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553397" "0" "10" "14" "92537354" "92537355" "ins" "0" "02329" "ATXN3_000045" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*32), ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553398" "0" "10" "14" "92537354" "92537355" "ins" "0" "02329" "ATXN3_000046" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553399" "0" "10" "14" "92537354" "92537355" "ins" "0" "01943" "ATXN3_000047" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.G306Qfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553400" "0" "10" "14" "92537354" "92537355" "ins" "0" "01943" "ATXN3_000048" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916ins44 (p.G306Qfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071010_92071011insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553402" "0" "10" "14" "92537355" "92537378" "dup" "0" "01943" "ATXN3_000049" "g.92537355_92537378dup" "" "" "" "ATXN3(NM_004993.5):c.892_915dupCAGCAGCAGCAGCAGCAGCAGCAG (p.Q298_Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071011_92071034dup" "" "benign" "" "0000553403" "0" "30" "14" "92537361" "92537378" "dup" "0" "01943" "ATXN3_000050" "g.92537361_92537378dup" "" "" "" "ATXN3(NM_004993.5):c.890_907dupCAGCAGCAGCAGCAGCAG (p.Q300_Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071017_92071034dup" "" "likely benign" "" "0000553404" "0" "10" "14" "92537376" "92537378" "dup" "0" "01943" "ATXN3_000051" "g.92537376_92537378dup" "" "" "" "ATXN3(NM_004993.5):c.913_915dupCAG (p.Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071032_92071034dup" "" "benign" "" "0000553405" "0" "50" "14" "92537378" "92537379" "ins" "0" "01943" "ATXN3_000052" "g.92537378_92537379insC" "" "" "" "ATXN3(NM_004993.5):c.891_892insG (p.Q298Afs*20), ATXN3(NM_004993.6):c.891_892insG (p.Q298Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insC" "" "VUS" "" "0000553406" "0" "10" "14" "92537378" "92537379" "ins" "0" "02329" "ATXN3_000052" "g.92537378_92537379insC" "" "" "" "ATXN3(NM_004993.5):c.891_892insG (p.Q298Afs*20), ATXN3(NM_004993.6):c.891_892insG (p.Q298Afs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insC" "" "benign" "" "0000553408" "0" "10" "14" "92537378" "92537379" "ins" "0" "02329" "ATXN3_000053" "g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Q297_Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553409" "0" "10" "14" "92537378" "92537379" "ins" "0" "02329" "ATXN3_000054" "g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG (p.Q296_Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553411" "0" "10" "14" "92537378" "92537379" "ins" "0" "01943" "ATXN3_000055" "g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916ins36 (p.Q305_G306ins12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "benign" "" "0000553412" "0" "30" "14" "92537378" "92537379" "ins" "0" "02326" "ATXN3_000056" "g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916ins39 (p.Q305_G306ins13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "likely benign" "" "0000553413" "0" "30" "14" "92537378" "92537379" "ins" "0" "02329" "ATXN3_000057" "g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916ins42 (p.Q305_G306ins14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "likely benign" "" "0000553414" "0" "30" "14" "92537378" "92537379" "ins" "0" "01943" "ATXN3_000058" "g.92537378_92537379insCTGCTGTTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.905_906insACAGCAGCAGCAGCAGCAGCA (p.Q299_Q305dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071034_92071035insCTGCTGTTGCTGCTGCTGCTG" "" "likely benign" "" "0000553415" "0" "30" "14" "92537379" "92537380" "ins" "0" "01943" "ATXN3_000059" "g.92537379_92537380insGCTGCTGCTGCTGCTGCTGCTGC" "" "" "" "ATXN3(NM_004993.5):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Q305Hfs*34), ATXN3(NM_004993.6):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Q305Hfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071035_92071036insGCTGCTGCTGCTGCTGCTGCTGC" "" "likely benign" "" "0000553416" "0" "30" "14" "92537379" "92537380" "ins" "0" "02329" "ATXN3_000059" "g.92537379_92537380insGCTGCTGCTGCTGCTGCTGCTGC" "" "" "" "ATXN3(NM_004993.5):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Q305Hfs*34), ATXN3(NM_004993.6):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Q305Hfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92071035_92071036insGCTGCTGCTGCTGCTGCTGCTGC" "" "likely benign" "" "0000553417" "0" "50" "14" "92548718" "92548726" "del" "0.0000284301" "01943" "ATXN3_000060" "g.92548718_92548726del" "" "" "" "ATXN3(NM_004993.5):c.693_701delGGCTCTGGC (p.A232_A234del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92082374_92082382del" "" "VUS" "" "0000553418" "0" "30" "14" "92549495" "92549495" "subst" "0.000069487" "01943" "ATXN3_000061" "g.92549495C>T" "" "" "" "ATXN3(NM_004993.5):c.583G>A (p.E195K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083151C>T" "" "likely benign" "" "0000553419" "0" "10" "14" "92560294" "92560295" "ins" "0" "02326" "ATXN3_000062" "g.92560294_92560295insG" "" "" "" "ATXN3(NM_004993.6):c.235-120_235-119insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92093950_92093951insG" "" "benign" "" "0000553420" "0" "10" "14" "92562985" "92562985" "del" "0" "02326" "ATXN3_000063" "g.92562985del" "" "" "" "ATXN3(NM_004993.6):c.189+50delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92096641del" "" "benign" "" "0000580235" "0" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000064" "g.92537335_92537494insN[66]" "" "{PMID:Rafehi 2019:31230722}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.92070991_92071150insN[66]" "" "pathogenic (dominant)" "" "0000580241" "0" "10" "14" "92537379" "92537379" "subst" "0" "00006" "ATXN3_000029" "g.92537379T>C" "7/72 chromosomes control" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92071035T>C" "" "benign" "" "0000580242" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000065" "g.92537335_92537494insN[165]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92070991_92071150insN[165]" "" "pathogenic (dominant)" "" "0000580243" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000066" "g.92537335_92537494insN[174]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92070991_92071150insN[174]" "" "pathogenic (dominant)" "" "0000580244" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000065" "g.92537335_92537494insN[165]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "yes" "" "0" "" "" "g.92070991_92071150insN[165]" "" "pathogenic (dominant)" "" "0000580245" "1" "50" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000067" "g.92537335_92537494insN[39]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[39]" "" "VUS" "" "0000580246" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000068" "g.92537335_92537494insN[195]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[195]" "" "pathogenic (dominant)" "" "0000580247" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000069" "g.92537335_92537494insN[183]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[183]" "" "pathogenic (dominant)" "" "0000580248" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000070" "g.92537335_92537494insN[177]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[177]" "" "pathogenic (dominant)" "" "0000580249" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000071" "g.92537335_92537494insN[162]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[162]" "" "pathogenic (dominant)" "" "0000580250" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000069" "g.92537335_92537494insN[183]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[183]" "" "pathogenic (dominant)" "" "0000580251" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000072" "g.92537335_92537494insN[186]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[186]" "" "pathogenic (dominant)" "" "0000580252" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000073" "g.92537335_92537494insN[189]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[189]" "" "pathogenic (dominant)" "" "0000580253" "1" "90" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000074" "g.92537335_92537494insN[192]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[192]" "" "pathogenic (dominant)" "" "0000580254" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000075" "g.92537335_92537494insN[21]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[21]" "" "benign" "" "0000580255" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000076" "g.92537335_92537494insN[63]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[63]" "" "benign" "" "0000580256" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000077" "g.92537335_92537494insN[0]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[0]" "" "benign" "" "0000580257" "2" "50" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000067" "g.92537335_92537494insN[39]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[39]" "" "VUS" "" "0000580258" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000078" "g.92537335_92537494insN[45]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[45]" "" "benign" "" "0000580259" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000079" "g.92537335_92537494insN[3]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[3]" "" "benign" "" "0000580260" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000077" "g.92537335_92537494insN[0]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[0]" "" "benign" "" "0000580261" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000080" "g.92537335_92537494insN[36]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[36]" "" "benign" "" "0000580262" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000081" "g.92537335_92537494insN[18]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[18]" "" "benign" "" "0000580263" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000067" "g.92537335_92537494insN[39]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[39]" "" "benign" "" "0000580264" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000082" "g.92537335_92537494insN[42]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[42]" "" "benign" "" "0000580265" "2" "10" "14" "92537335" "92537494" "ins" "0" "00006" "ATXN3_000078" "g.92537335_92537494insN[45]" "" "{PMID:Kawaguchi 1994:7874163}" "" "" "" "Germline" "" "" "0" "" "" "g.92070991_92071150insN[45]" "" "benign" "" "0000623180" "0" "10" "14" "92549614" "92549614" "dup" "0" "01943" "ATXN3_000083" "g.92549614dup" "" "" "" "ATXN3(NM_004993.5):c.476-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92083270dup" "" "benign" "" "0000657513" "0" "30" "14" "92548717" "92548717" "subst" "0.00182359" "01943" "ATXN3_000032" "g.92548717T>C" "" "" "" "ATXN3(NM_001127696.1):c.657A>G (p.(=)), ATXN3(NM_004993.5):c.702A>G (p.A234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92082373T>C" "" "likely benign" "" "0000680081" "0" "30" "14" "92530765" "92530765" "subst" "0.00000425326" "01943" "ATXN3_000084" "g.92530765G>T" "" "" "" "ATXN3(NM_004993.5):c.992-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724922" "0" "30" "14" "92537308" "92537308" "subst" "0.00000899588" "01943" "ATXN3_000085" "g.92537308G>A" "" "" "" "ATXN3(NM_004993.5):c.962C>T (p.T321I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863717" "0" "30" "14" "92537354" "92537355" "ins" "0" "01943" "ATXN3_000086" "g.92537354_92537355insTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.5):c.915_916insCAGCAGCAGCA (p.G306Qfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925929" "0" "50" "14" "92537354" "92537355" "ins" "0" "02325" "ATXN3_000087" "g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG" "" "" "" "ATXN3(NM_004993.6):c.915_916ins41 (p.G306Qfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATXN3 ## Count = 95 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000242734" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[15]" "r.(?)" "p.(Gln292_Gly302ins5)" "10" "TRN[19]" "0000242735" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[24]" "r.(?)" "p.(Gln292_Gly302ins8)" "10" "TRN[22]" "0000242736" "00003163" "90" "873" "-97" "976" "0" "c.(873-97_976)ins[(177_192)]" "r.?" "p.(Gln292_Gly302ins(59_64))" "10" "TRN[(73_78)]" "0000242737" "00003163" "30" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242744" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[0]" "r.(?)" "p.(Gln292_Gly302ins0)" "10" "TRN[14]" "0000242745" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)ins[(3_15)]" "r.(?)" "p.(Gln292_Gly302ins(1_5))" "10" "TRN[(15_19)]" "0000242746" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[18]" "r.(?)" "p.(Gln292_Gly302ins6)" "10" "TRN[20]" "0000242747" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[21]" "r.(?)" "p.(Gln292_Gly302ins7)" "10" "TRN[21]" "0000242748" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[21]" "r.(?)" "p.(Gln292_Gly302ins7)" "10" "TRN[21]" "0000242749" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[27]" "r.(?)" "p.(Gln292_Gly302ins9)" "10" "TRN[23]" "0000242750" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[27]" "r.(?)" "p.(Gln292_Gly302ins9)" "10" "TRN[23]" "0000242751" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)ins[(30_36)]" "r.(?)" "p.(Gln292_Gly302ins(10_12))" "10" "TRN[(24_26)]" "0000242752" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)insN[39]" "r.(?)" "p.(Gln292_Gly302ins13)" "10" "TRN[27]" "0000242753" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)ins[(42_48)]" "r.(?)" "p.(Gln292_Gly302ins(14_16))" "10" "TRN[(28_30)]" "0000242754" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)ins[(42_48)]" "r.(?)" "p.(Gln292_Gly302ins(14_16))" "10" "TRN[(28_30)]" "0000242755" "00003163" "10" "873" "-97" "976" "0" "c.(873-97_976)ins[(51_63)]" "r.(?)" "p.(Gln292_Gly302ins(17_21))" "10" "TRN[(31_35)]" "0000242756" "00003163" "30" "873" "-97" "976" "0" "c.(873-97_976)ins[(66_78)]" "r.(?)" "p.(Gln292_Gly302ins(22_26))" "10" "TRN[(36_40)]" "0000242757" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242758" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242759" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242760" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242761" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000242762" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "10" "" "0000250316" "00003163" "30" "675" "0" "675" "0" "c.675T>C" "r.(?)" "p.(Asp225=)" "" "" "0000252239" "00003163" "30" "388" "-6" "388" "-6" "c.388-6T>C" "r.(=)" "p.(=)" "" "" "0000260287" "00003163" "10" "321" "-16" "321" "-16" "c.321-16C>G" "r.(=)" "p.(=)" "" "" "0000260288" "00003163" "10" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Val164=)" "" "" "0000260289" "00003163" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Val212Met)" "" "" "0000260290" "00003163" "10" "776" "-20" "776" "-20" "c.776-20G>C" "r.(=)" "p.(=)" "" "" "0000261320" "00003163" "30" "1000" "0" "1000" "0" "c.1000A>G" "r.(?)" "p.(Met334Val)" "" "" "0000261322" "00003163" "10" "25" "-73" "25" "-73" "c.25-73dup" "r.(=)" "p.(=)" "" "" "0000261323" "00003163" "10" "891" "0" "891" "0" "c.891A>G" "r.(?)" "p.(Gln297=)" "" "" "0000261326" "00003163" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Gly306Arg)" "" "" "0000263443" "00003163" "50" "293" "0" "293" "0" "c.293A>T" "r.(?)" "p.(Glu98Val)" "" "" "0000263444" "00003163" "10" "873" "0" "873" "0" "c.873del" "r.(?)" "p.(Lys291AsnfsTer40)" "" "" "0000323820" "00003163" "50" "702" "0" "702" "0" "c.702A>G" "r.(?)" "p.(Ala234=)" "" "" "0000323822" "00003163" "50" "48" "0" "48" "0" "c.48A>G" "r.(?)" "p.(Gln16=)" "" "" "0000553391" "00003163" "10" "916" "0" "917" "0" "c.916_917insC" "r.(?)" "p.(Gly306AlafsTer12)" "" "" "0000553392" "00003163" "10" "916" "0" "917" "0" "c.916_917insC" "r.(?)" "p.(Gly306AlafsTer12)" "" "" "0000553393" "00003163" "10" "916" "0" "917" "0" "c.916_917insC" "r.(?)" "p.(Gly306AlafsTer12)" "" "" "0000553394" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer31)" "" "" "0000553396" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer32)" "" "" "0000553397" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer32)" "" "" "0000553398" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer33)" "" "" "0000553399" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer36)" "" "" "0000553400" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306GlnfsTer40)" "" "" "0000553402" "00003163" "10" "892" "0" "915" "0" "c.892_915dup" "r.(?)" "p.(Gln298_Gln305dup)" "" "" "0000553403" "00003163" "30" "898" "0" "915" "0" "c.898_915dup" "r.(?)" "p.(Gln300_Gln305dup)" "" "" "0000553404" "00003163" "10" "913" "0" "915" "0" "c.913_915dup" "r.(?)" "p.(Gln305dup)" "" "" "0000553405" "00003163" "50" "891" "0" "892" "0" "c.891_892insG" "r.(?)" "p.(Gln298AlafsTer20)" "" "" "0000553406" "00003163" "10" "891" "0" "892" "0" "c.891_892insG" "r.(?)" "p.(Gln298AlafsTer20)" "" "" "0000553408" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAG" "r.(?)" "p.(Gln297_Gln305dup)" "" "" "0000553409" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG" "r.(?)" "p.(Gln296_Gln305dup)" "" "" "0000553411" "00003163" "10" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG" "r.(?)" "p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)" "" "" "0000553412" "00003163" "30" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG" "r.(?)" "p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)" "" "" "0000553413" "00003163" "30" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG" "r.(?)" "p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)" "" "" "0000553414" "00003163" "30" "905" "0" "906" "0" "c.905_906insACAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gln299_Gln305dup)" "" "" "0000553415" "00003163" "30" "890" "0" "891" "0" "c.890_891insGCAGCAGCAGCAGCAGCAGCAGC" "r.(?)" "p.(Gln305HisfsTer34)" "" "" "0000553416" "00003163" "30" "890" "0" "891" "0" "c.890_891insGCAGCAGCAGCAGCAGCAGCAGC" "r.(?)" "p.(Gln305HisfsTer34)" "" "" "0000553417" "00003163" "50" "693" "0" "701" "0" "c.693_701del" "r.(?)" "p.(Ala232_Ala234del)" "" "" "0000553418" "00003163" "30" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Glu195Lys)" "" "" "0000553419" "00003163" "10" "235" "-120" "235" "-119" "c.235-120_235-119insC" "r.(=)" "p.(=)" "" "" "0000553420" "00003163" "10" "189" "50" "189" "50" "c.189+50del" "r.(=)" "p.(=)" "" "" "0000580235" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[66]" "r.?" "p.(Gln292_Gln302ins(22_?))" "10" "TRN[(36_?)]" "0000580241" "00003163" "10" "891" "0" "891" "0" "c.891A>G" "r.(=)" "p.(Gln297=)" "" "" "0000580242" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[165]" "r.(?)" "p.(Gln292_Gln302ins55)" "10" "TRN[69]" "0000580243" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[174]" "r.(?)" "p.(Gln292_Gln302ins58)" "10" "TRN[72]" "0000580244" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[165]" "r.(?)" "p.(Gln292_Gln302ins55)" "10" "TRN[69]" "0000580245" "00003163" "50" "873" "-97" "935" "0" "c.(873-97_935)insN[39]" "r.(?)" "p.(Gln292_Gln302ins13)" "10" "TRN[27]" "0000580246" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[195]" "r.(?)" "p.(Gln292_Gln302ins65)" "10" "TRN[79]" "0000580247" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[183]" "r.(?)" "p.(Gln292_Gln302ins61)" "10" "TRN[75]" "0000580248" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[177]" "r.(?)" "p.(Gln292_Gln302ins59)" "10" "TRN[73]" "0000580249" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[162]" "r.(?)" "p.(Gln292_Gln302ins54)" "10" "TRN[68]" "0000580250" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[183]" "r.(?)" "p.(Gln292_Gln302ins61)" "10" "TRN[75]" "0000580251" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[186]" "r.(?)" "p.(Gln292_Gln302ins62)" "10" "TRN[76]" "0000580252" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[189]" "r.(?)" "p.(Gln292_Gln302ins63)" "10" "TRN[77]" "0000580253" "00003163" "90" "873" "-97" "935" "0" "c.(873-97_935)insN[192]" "r.(?)" "p.(Gln292_Gln302ins64)" "10" "TRN[78]" "0000580254" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[21]" "r.(?)" "p.(Gln292_Gln302ins7)" "10" "TRN[21]" "0000580255" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[63]" "r.(?)" "p.(Gln292_Gln302ins21)" "10" "TRN[35]" "0000580256" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[0]" "r.(?)" "p.(Gln292_Gln302ins0)" "10" "TRN[14]" "0000580257" "00003163" "50" "873" "-97" "935" "0" "c.(873-97_935)insN[39]" "r.(?)" "p.(Gln292_Gln302ins13)" "10" "TRN[27]" "0000580258" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[45]" "r.(?)" "p.(Gln292_Gln302ins15)" "10" "TRN[29]" "0000580259" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[3]" "r.(?)" "p.(Gln292_Gln302ins1)" "10" "TRN[15]" "0000580260" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[0]" "r.(?)" "p.(Gln292_Gln302ins0)" "10" "TRN[14]" "0000580261" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[36]" "r.(?)" "p.(Gln292_Gln302ins12)" "10" "TRN[26]" "0000580262" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[18]" "r.(?)" "p.(Gln292_Gln302ins6)" "10" "TRN[20]" "0000580263" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[39]" "r.(?)" "p.(Gln292_Gln302ins13)" "10" "TRN[27]" "0000580264" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[42]" "r.(?)" "p.(Gln292_Gln302ins14)" "10" "TRN[28]" "0000580265" "00003163" "10" "873" "-97" "935" "0" "c.(873-97_935)insN[45]" "r.(?)" "p.(Gln292_Gln302ins15)" "10" "TRN[29]" "0000623180" "00003163" "10" "476" "-3" "476" "-3" "c.476-3dup" "r.spl?" "p.?" "" "" "0000657513" "00003163" "30" "702" "0" "702" "0" "c.702A>G" "r.(?)" "p.(Ala234=)" "" "" "0000680081" "00003163" "30" "992" "-7" "992" "-7" "c.992-7C>A" "r.(=)" "p.(=)" "" "" "0000724922" "00003163" "30" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Thr321Ile)" "" "" "0000863717" "00003163" "30" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCA" "r.(?)" "p.(Gly306Glnfs*29)" "" "" "0000925929" "00003163" "50" "915" "0" "916" "0" "c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA" "r.(?)" "p.(Gly306Glnfs*39)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000149386" "0000242734" "0000149387" "0000242735" "0000149388" "0000242744" "0000149389" "0000242745" "0000149390" "0000242746" "0000149391" "0000242747" "0000149392" "0000242748" "0000149392" "0000242757" "0000149393" "0000242749" "0000149394" "0000242750" "0000149394" "0000242758" "0000149395" "0000242751" "0000149396" "0000242752" "0000149396" "0000242759" "0000149397" "0000242753" "0000149398" "0000242754" "0000149398" "0000242760" "0000149399" "0000242755" "0000149399" "0000242761" "0000149400" "0000242756" "0000149400" "0000242762" "0000149401" "0000242736" "0000149401" "0000242737" "0000250843" "0000580235" "0000250854" "0000580241" "0000250855" "0000580242" "0000250855" "0000580254" "0000250856" "0000580243" "0000250856" "0000580255" "0000250857" "0000580244" "0000250857" "0000580256" "0000250858" "0000580245" "0000250858" "0000580257" "0000250859" "0000580246" "0000250859" "0000580258" "0000250860" "0000580247" "0000250860" "0000580259" "0000250861" "0000580248" "0000250861" "0000580260" "0000250862" "0000580249" "0000250862" "0000580261" "0000250863" "0000580250" "0000250863" "0000580262" "0000250864" "0000580251" "0000250864" "0000580263" "0000250865" "0000580252" "0000250865" "0000580264" "0000250866" "0000580253" "0000250866" "0000580265"