### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATN1) # 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}}" "ATN1" "atrophin 1" "12" "p" "unknown" "NG_008047.1" "UD_132119105504" "" "https://www.LOVD.nl/ATN1" "" "1" "3033" "1822" "607462" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-12 16:11:34" "00006" "2026-03-16 13:56:02" ## 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}}" "00024257" "ATN1" "transcript variant 1" "001" "NM_001007026.1" "" "NP_001007027.1" "" "" "" "-237" "4114" "3573" "7033626" "7051484" "00006" "2017-05-12 16:02:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01280" "DRPLA" "atrophy, pallidoluysian, dentatorubral (DRPLA)" "AD" "125370" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06200" "CHEDDA" "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies" "AD" "618494" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATN1" "01280" "ATN1" "06200" ## Individuals ## Do not remove or alter this header ## ## Count = 85 "{{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}}" "00104496" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104497" "" "" "" "6" "" "00006" "{PMID:Komure 1995:7824105}" "3-generation family, 6 affecteds (3F, 3M), grandfather" "" "" "Japan" "" "0" "" "" "" "07824105-Fam2Pat10" "00104498" "00104497" "" "00104497" "1" "" "00006" "{PMID:Komure 1995:7824105}" "son Fam2Pat11" "" "" "Japan" "" "0" "" "" "" "07824105-Fam2Pat11" "00104499" "00104498" "" "00104497" "1" "" "00006" "{PMID:Komure 1995:7824105}" "grandson Fam2Pat12" "" "" "Japan" "" "0" "" "" "" "07824105-Fam2Pat12" "00104500" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat24" "00104501" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "46y" "0" "" "" "" "07824105-Pat38" "00104502" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104503" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104504" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104505" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104506" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104507" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104508" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104509" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104510" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104511" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104512" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104513" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104514" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104515" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104516" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104517" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104518" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104519" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104520" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104521" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104522" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104523" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104524" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104525" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104526" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104527" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104528" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104529" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104530" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104531" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104532" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104533" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "38 affecteds from 12 families" "" "" "Japan" "" "0" "" "" "" "07824105-Pat" "00104534" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104535" "" "" "" "10" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104536" "" "" "" "3" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104537" "" "" "" "3" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104538" "" "" "" "2" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104539" "" "" "" "8" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104540" "" "" "" "7" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104541" "" "" "" "7" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104542" "" "" "" "9" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104543" "" "" "" "2" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104544" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104545" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104546" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00104547" "" "" "" "1" "" "00006" "{PMID:Komure 1995:7824105}" "control chromosomes" "" "" "Japan" "" "0" "" "" "" "07824105-con" "00227927" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "M" "" "Argentina" "" "0" "" "" "" "Pat1" "00227928" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "Pat2" "00227929" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat3" "00227930" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "United States" "" "0" "" "" "Hispanic" "Pat4" "00227931" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "Saudi Arabia" "" "0" "" "" "" "Pat5" "00227932" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat6" "00227933" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "Australia" "" "0" "" "" "" "Pat7" "00227934" "" "" "" "1" "" "00006" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "F" "" "France" "" "0" "" "" "" "Pat8" "00262063" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262064" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262065" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262066" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262067" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262068" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262069" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262070" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262071" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262072" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262073" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262074" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262075" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262076" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262077" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262078" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262079" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262080" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262081" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00262082" "" "" "" "1" "" "00006" "{PMID:Koide 1994:8136840}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00314895" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio80" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00447962" "" "" "" "4" "" "00006" "{PMID:Chia 2018:29784083}" "2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs" "M" "yes" "Jordan" "" "0" "" "" "" "FamPatII1" "00447963" "" "" "00447962" "1" "" "00006" "{PMID:Chia 2018:29784083}" "affected sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamPatII4" "00474378" "" "" "" "1" "" "00006" "{PMID:Lee 2026:41828661}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Taiwan" "" "0" "" "" "" "Pat30" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 85 "{{individualid}}" "{{diseaseid}}" "00104496" "01280" "00104497" "01280" "00104498" "01280" "00104499" "01280" "00104500" "00139" "00104501" "01280" "00104502" "01280" "00104503" "01280" "00104504" "01280" "00104505" "01280" "00104506" "01280" "00104507" "01280" "00104508" "01280" "00104509" "01280" "00104510" "01280" "00104511" "01280" "00104512" "01280" "00104513" "01280" "00104514" "01280" "00104515" "01280" "00104516" "01280" "00104517" "01280" "00104518" "01280" "00104519" "01280" "00104520" "01280" "00104521" "01280" "00104522" "01280" "00104523" "01280" "00104524" "01280" "00104525" "01280" "00104526" "01280" "00104527" "01280" "00104528" "01280" "00104529" "01280" "00104530" "01280" "00104531" "01280" "00104532" "01280" "00104533" "01280" "00104534" "00000" "00104535" "00000" "00104536" "00000" "00104537" "00000" "00104538" "00000" "00104539" "00000" "00104540" "00000" "00104541" "00000" "00104542" "00000" "00104543" "00000" "00104544" "00000" "00104545" "00000" "00104546" "00000" "00104547" "00000" "00227927" "00139" "00227928" "00139" "00227929" "00139" "00227930" "00139" "00227931" "00139" "00227932" "00139" "00227933" "00139" "00227934" "00139" "00262063" "01280" "00262064" "01280" "00262065" "01280" "00262066" "01280" "00262067" "01280" "00262068" "01280" "00262069" "01280" "00262070" "01280" "00262071" "01280" "00262072" "01280" "00262073" "01280" "00262074" "01280" "00262075" "01280" "00262076" "01280" "00262077" "01280" "00262078" "01280" "00262079" "01280" "00262080" "01280" "00262081" "01280" "00262082" "01280" "00314895" "00198" "00327547" "04214" "00447962" "05611" "00447963" "05611" "00474378" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01280, 04172, 04214, 05611, 06200 ## Count = 71 "{{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}}" "0000082427" "01280" "00104496" "00006" "Familial, autosomal dominant" "" "adult onset DRPLA" "61y" "" "" "" "" "" "" "" "" "" "" "0000082428" "01280" "00104497" "00006" "Familial, autosomal dominant" "" "" "62y" "" "" "" "" "" "" "" "" "" "" "0000082429" "01280" "00104498" "00006" "Familial, autosomal dominant" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000082430" "01280" "00104499" "00006" "Familial, autosomal dominant" "" "" "7y" "" "" "" "" "" "" "" "" "" "" "0000082431" "00139" "00104500" "00006" "Familial, autosomal dominant" "6y" "mental retardation, no DRPLA symptoms" "5y" "" "" "" "" "" "" "" "" "" "" "0000082432" "01280" "00104501" "00006" "Familial, autosomal dominant" "46y" "35y-cerebellar ataxia,choreoathetosis, myoclonus; 46y-deceased" "6y" "" "generalized convulsions, learning disabilities" "" "" "" "" "" "" "" "" "0000082433" "01280" "00104502" "00006" "Familial, autosomal dominant" "" "adult onset" "58y" "" "" "" "" "" "" "" "" "" "" "0000082434" "01280" "00104503" "00006" "Familial, autosomal dominant" "" "adult onset" "49y" "" "" "" "" "" "" "" "" "" "" "0000082435" "01280" "00104504" "00006" "Familial, autosomal dominant" "" "adult onset" "47y" "" "" "" "" "" "" "" "" "" "" "0000082436" "01280" "00104505" "00006" "Familial, autosomal dominant" "" "adult onset" "44y" "" "" "" "" "" "" "" "" "" "" "0000082437" "01280" "00104506" "00006" "Familial, autosomal dominant" "" "adult onset" "37y" "" "" "" "" "" "" "" "" "" "" "0000082438" "01280" "00104507" "00006" "Familial, autosomal dominant" "" "adult onset" "57y" "" "" "" "" "" "" "" "" "" "" "0000082439" "01280" "00104508" "00006" "Familial, autosomal dominant" "" "adult onset" "52y" "" "" "" "" "" "" "" "" "" "" "0000082440" "01280" "00104509" "00006" "Familial, autosomal dominant" "" "adult onset" "37y" "" "" "" "" "" "" "" "" "" "" "0000082441" "01280" "00104510" "00006" "Familial, autosomal dominant" "" "adult onset" "42y" "" "" "" "" "" "" "" "" "" "" "0000082442" "01280" "00104511" "00006" "Familial, autosomal dominant" "" "adult onset" "40y" "" "" "" "" "" "" "" "" "" "" "0000082443" "01280" "00104512" "00006" "Familial, autosomal dominant" "" "adult onset" "37y" "" "" "" "" "" "" "" "" "" "" "0000082444" "01280" "00104513" "00006" "Familial, autosomal dominant" "" "adult onset" "35y" "" "" "" "" "" "" "" "" "" "" "0000082445" "01280" "00104514" "00006" "Familial, autosomal dominant" "" "adult onset" "48y" "" "" "" "" "" "" "" "" "" "" "0000082446" "01280" "00104515" "00006" "Familial, autosomal dominant" "" "adult onset" "27y" "" "" "" "" "" "" "" "" "" "" "0000082447" "01280" "00104516" "00006" "Familial, autosomal dominant" "" "juvenile onset" "7y" "" "" "" "" "" "" "" "" "" "" "0000082448" "01280" "00104517" "00006" "Familial, autosomal dominant" "" "adult onset" "49y" "" "" "" "" "" "" "" "" "" "" "0000082449" "01280" "00104518" "00006" "Familial, autosomal dominant" "" "adult onset" "21y" "" "" "" "" "" "" "" "" "" "" "0000082450" "01280" "00104519" "00006" "Familial, autosomal dominant" "" "juvenile onset" "7y" "" "" "" "" "" "" "" "" "" "" "0000082451" "01280" "00104520" "00006" "Familial, autosomal dominant" "" "juvenile onset" "16y" "" "" "" "" "" "" "" "" "" "" "0000082452" "01280" "00104521" "00006" "Familial, autosomal dominant" "" "juvenile onset" "18y" "" "" "" "" "" "" "" "" "" "" "0000082453" "01280" "00104522" "00006" "Familial, autosomal dominant" "" "juvenile onset" "12y" "" "" "" "" "" "" "" "" "" "" "0000082454" "01280" "00104523" "00006" "Familial, autosomal dominant" "" "juvenile onset" "7y" "" "" "" "" "" "" "" "" "" "" "0000082455" "01280" "00104524" "00006" "Familial, autosomal dominant" "" "juvenile onset" "6y" "" "" "" "" "" "" "" "" "" "" "0000082456" "01280" "00104525" "00006" "Familial, autosomal dominant" "" "juvenile onset" "5y" "" "" "" "" "" "" "" "" "" "" "0000082457" "01280" "00104526" "00006" "Familial, autosomal dominant" "" "juvenile onset" "10y" "" "" "" "" "" "" "" "" "" "" "0000082458" "01280" "00104527" "00006" "Familial, autosomal dominant" "" "juvenile onset" "10y" "" "" "" "" "" "" "" "" "" "" "0000082459" "01280" "00104528" "00006" "Familial, autosomal dominant" "" "juvenile onset" "9y" "" "" "" "" "" "" "" "" "" "" "0000082460" "01280" "00104529" "00006" "Familial, autosomal dominant" "" "juvenile onset" "7y" "" "" "" "" "" "" "" "" "" "" "0000082461" "01280" "00104530" "00006" "Familial, autosomal dominant" "" "juvenile onset" "5y" "" "" "" "" "" "" "" "" "" "" "0000082462" "01280" "00104531" "00006" "Familial, autosomal dominant" "" "juvenile onset" "5y" "" "" "" "" "" "" "" "" "" "" "0000082463" "01280" "00104532" "00006" "Familial, autosomal dominant" "" "juvenile onset" "5y" "" "" "" "" "" "" "" "" "" "" "0000082464" "01280" "00104533" "00006" "Familial, autosomal dominant" "" "juvenile onset" "1y" "" "" "" "" "" "" "" "" "" "" "0000171927" "00139" "00227927" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171928" "00139" "00227928" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171929" "00139" "00227929" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171930" "00139" "00227930" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171931" "00139" "00227931" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171932" "00139" "00227932" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171933" "00139" "00227933" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000171934" "00198" "00227934" "00006" "Isolated (sporadic)" "" "see paper; …, severe cognitive impairment, hypotonia, recognizable facial gestalt, variable congenital anomalies" "" "" "" "" "" "" "" "" "" "severe cognitive impairment" "" "0000200546" "01280" "00262063" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "5y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200547" "01280" "00262064" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "8y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200548" "01280" "00262065" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "12y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200549" "01280" "00262066" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "20y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200550" "01280" "00262067" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "6y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200551" "01280" "00262068" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "12y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200552" "01280" "00262069" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "8y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200553" "01280" "00262070" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "14y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200554" "01280" "00262071" "00006" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200555" "01280" "00262072" "00006" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200556" "01280" "00262073" "00006" "Familial, autosomal dominant" "" "" "62y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200557" "01280" "00262074" "00006" "Familial, autosomal dominant" "" "" "15y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200558" "01280" "00262075" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "27y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200559" "01280" "00262076" "00006" "Familial, autosomal dominant" "" "progressive myoclonus epilepsy" "29y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200560" "01280" "00262077" "00006" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200561" "01280" "00262078" "00006" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200562" "01280" "00262079" "00006" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200563" "01280" "00262080" "00006" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200564" "01280" "00262081" "00006" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000200565" "01280" "00262082" "00006" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "DRPLA" "dentatorubral-pallidoluysian atrophy" "" "0000238653" "00198" "00314895" "00006" "Unknown" "5y" "Failure to thrive, hearing loss, abnormal cochlea structure, microcephaly." "1d" "" "" "" "" "" "" "" "" "" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000337152" "05611" "00447962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" "0000337153" "05611" "00447963" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental delay; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" "0000359176" "04172" "00474378" "00006" "Isolated (sporadic)" "7y" "" "" "" "" "" "" "" "" "" "CHEDDA" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 85 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104968" "00104496" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104969" "00104497" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104970" "00104498" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104971" "00104499" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104972" "00104500" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104973" "00104501" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104974" "00104502" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104975" "00104503" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104976" "00104504" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104977" "00104505" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104978" "00104506" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104979" "00104507" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104980" "00104508" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104981" "00104509" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104982" "00104510" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104983" "00104511" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104984" "00104512" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104985" "00104513" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104986" "00104514" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104987" "00104515" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104988" "00104516" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104989" "00104517" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104990" "00104518" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104991" "00104519" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104992" "00104520" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104993" "00104521" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104994" "00104522" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104995" "00104523" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104996" "00104524" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104997" "00104525" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104998" "00104526" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000104999" "00104527" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105000" "00104528" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105001" "00104529" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105002" "00104530" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105003" "00104531" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105004" "00104532" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105005" "00104533" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105006" "00104534" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105007" "00104535" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105008" "00104536" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105009" "00104537" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105010" "00104538" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105011" "00104539" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105012" "00104540" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105013" "00104541" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105014" "00104542" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105015" "00104543" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105016" "00104544" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105017" "00104545" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105018" "00104546" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000105019" "00104547" "1" "00006" "00006" "2017-05-12 16:21:49" "" "" "PCR" "DNA" "" "" "0000229013" "00227927" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229014" "00227928" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229015" "00227929" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229016" "00227930" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229017" "00227931" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229018" "00227932" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229019" "00227933" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000229020" "00227934" "1" "00006" "00006" "2019-03-15 15:08:15" "" "" "SEQ" "DNA" "" "WES" "0000263169" "00262063" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263170" "00262064" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263171" "00262065" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263172" "00262066" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263173" "00262067" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263174" "00262068" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263175" "00262069" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263176" "00262070" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263177" "00262071" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263178" "00262072" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263179" "00262073" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263180" "00262074" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263181" "00262075" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263182" "00262076" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263183" "00262077" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263184" "00262078" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263185" "00262079" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263186" "00262080" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263187" "00262081" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000263188" "00262082" "1" "00006" "00006" "2019-08-17 12:26:57" "" "" "PCR" "DNA" "" "" "0000316069" "00314895" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000449535" "00447962" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449536" "00447963" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476060" "00474378" "1" "00006" "00006" "2026-03-16 13:55:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{geneid}}" "0000104968" "ATN1" "0000104969" "ATN1" "0000104970" "ATN1" "0000104971" "ATN1" "0000104972" "ATN1" "0000104973" "ATN1" "0000104974" "ATN1" "0000104975" "ATN1" "0000104976" "ATN1" "0000104977" "ATN1" "0000104978" "ATN1" "0000104979" "ATN1" "0000104980" "ATN1" "0000104981" "ATN1" "0000104982" "ATN1" "0000104983" "ATN1" "0000104984" "ATN1" "0000104985" "ATN1" "0000104986" "ATN1" "0000104987" "ATN1" "0000104988" "ATN1" "0000104989" "ATN1" "0000104990" "ATN1" "0000104991" "ATN1" "0000104992" "ATN1" "0000104993" "ATN1" "0000104994" "ATN1" "0000104995" "ATN1" "0000104996" "ATN1" "0000104997" "ATN1" "0000104998" "ATN1" "0000104999" "ATN1" "0000105000" "ATN1" "0000105001" "ATN1" "0000105002" "ATN1" "0000105003" "ATN1" "0000105004" "ATN1" "0000105005" "ATN1" "0000105006" "ATN1" "0000105007" "ATN1" "0000105008" "ATN1" "0000105009" "ATN1" "0000105010" "ATN1" "0000105011" "ATN1" "0000105012" "ATN1" "0000105013" "ATN1" "0000105014" "ATN1" "0000105015" "ATN1" "0000105016" "ATN1" "0000105017" "ATN1" "0000105018" "ATN1" "0000105019" "ATN1" "0000229013" "ATN1" "0000229014" "ATN1" "0000229015" "ATN1" "0000229016" "ATN1" "0000229017" "ATN1" "0000229018" "ATN1" "0000229019" "ATN1" "0000229020" "ATN1" "0000263169" "ATN1" "0000263170" "ATN1" "0000263171" "ATN1" "0000263172" "ATN1" "0000263173" "ATN1" "0000263174" "ATN1" "0000263175" "ATN1" "0000263176" "ATN1" "0000263177" "ATN1" "0000263178" "ATN1" "0000263179" "ATN1" "0000263180" "ATN1" "0000263181" "ATN1" "0000263182" "ATN1" "0000263183" "ATN1" "0000263184" "ATN1" "0000263185" "ATN1" "0000263186" "ATN1" "0000263187" "ATN1" "0000263188" "ATN1" "0000316069" "ATN1" ## 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 = 216 "{{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}}" "0000170197" "1" "90" "12" "7045882" "7045884" "" "0" "00006" "ATN1_000056" "g.(7045869_7045967)[ins123]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170198" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000053" "g.(7045869_7045967)[ins114]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170199" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000061" "g.(7045869_7045967)[ins138]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170200" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000067" "g.(7045869_7045967)[ins156]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170201" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000059" "g.(7045869_7045967)[ins132]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170202" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000056" "g.(7045869_7045967)[ins123]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170203" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000057" "g.(7045869_7045967)[ins126]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170204" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000058" "g.(7045869_7045967)[ins129]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170205" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000058" "g.(7045869_7045967)[ins129]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170206" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000058" "g.(7045869_7045967)[ins129]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170207" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000058" "g.(7045869_7045967)[ins129]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170208" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000059" "g.(7045869_7045967)[ins132]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170209" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000059" "g.(7045869_7045967)[ins132]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170210" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000059" "g.(7045869_7045967)[ins132]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170211" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000060" "g.(7045869_7045967)[ins135]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170212" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000060" "g.(7045869_7045967)[ins135]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170213" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000060" "g.(7045869_7045967)[ins135]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170214" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000060" "g.(7045869_7045967)[ins135]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170215" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000061" "g.(7045869_7045967)[ins138]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170216" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000062" "g.(7045869_7045967)[ins141]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170217" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000062" "g.(7045869_7045967)[ins141]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170218" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000063" "g.(7045869_7045967)[ins144]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170219" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000063" "g.(7045869_7045967)[ins144]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170220" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000064" "g.(7045869_7045967)[ins147]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170221" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000064" "g.(7045869_7045967)[ins147]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170222" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000065" "g.(7045869_7045967)[ins150]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170223" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000065" "g.(7045869_7045967)[ins150]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170224" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000065" "g.(7045869_7045967)[ins150]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170225" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000065" "g.(7045869_7045967)[ins150]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170226" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000065" "g.(7045869_7045967)[ins150]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170227" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000066" "g.(7045869_7045967)[ins153]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170228" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000066" "g.(7045869_7045967)[ins153]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170229" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000066" "g.(7045869_7045967)[ins153]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170230" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000066" "g.(7045869_7045967)[ins153]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170231" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000068" "g.(7045869_7045967)[ins159]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170232" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000072" "g.(7045869_7045967)[ins171]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170233" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000074" "g.(7045869_7045967)[ins177]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170234" "1" "90" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000088" "g.(7045869_7045967)[ins219]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000170235" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000007" "g.(7045869_7045967)[del24]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170236" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000010" "g.(7045869_7045967)[del15]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170237" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000011" "g.(7045869_7045967)[del12]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170238" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000012" "g.(7045869_7045967)[del9]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170239" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000013" "g.(7045869_7045967)[del6]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170240" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000015" "g.(7045869_7045967)[del0]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170241" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000016" "g.(7045869_7045967)[ins3]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170242" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000017" "g.(7045869_7045967)[ins6]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170243" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000018" "g.(7045869_7045967)[ins9]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170244" "1" "10" "12" "0" "0" "" "0" "00006" "ATN1_000019" "g.(7045869_7045967)[ins12]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170245" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000020" "g.(7045869_7045967)[ins15]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170246" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000021" "g.(7045869_7045967)[ins18]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170247" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000022" "g.(7045869_7045967)[ins21]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000170248" "1" "10" "12" "7045882" "7045884" "subst" "0" "00006" "ATN1_000023" "g.(7045869_7045967)[ins24]" "" "{PMID:Komure 1995:07824105}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000261170" "0" "30" "12" "7045469" "7045469" "subst" "0" "02326" "ATN1_000089" "g.7045469G>A" "" "" "" "ATN1(NM_001940.4):c.1039G>A (p.E347K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6936306G>A" "" "likely benign" "" "0000272228" "0" "50" "12" "7053675" "7053675" "subst" "4.07213E-6" "01943" "C12orf57_000003" "g.7053675C>G" "" "" "" "C12orf57(NM_138425.3):c.89C>G (p.P30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6944512C>G" "" "VUS" "" "0000322654" "0" "50" "12" "7053317" "7053317" "subst" "4.46671E-5" "01804" "C12orf57_000002" "g.7053317G>C" "" "" "" "C12orf57(NM_138425.2):c.33G>C (p.(Leu11Phe)), C12orf57(NM_138425.4):c.33G>C (p.L11F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6944154G>C" "" "VUS" "" "0000347710" "0" "90" "12" "7053285" "7053285" "subst" "3.24863E-5" "02327" "C12orf57_000001" "g.7053285A>G" "" "" "" "C12orf57(NM_138425.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6944122A>G" "" "pathogenic" "" "0000347729" "0" "50" "12" "7055032" "7055032" "subst" "2.45433E-5" "02327" "C12orf57_000005" "g.7055032A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6945869A>G" "" "VUS" "" "0000549070" "0" "50" "12" "7043676" "7043676" "subst" "0" "01943" "ATN1_000104" "g.7043676C>T" "" "" "" "ATN1(NM_001007026.1):c.214C>T (p.R72W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6934513C>T" "" "VUS" "" "0000549072" "0" "30" "12" "7045891" "7045896" "del" "0" "01804" "ATN1_000106" "g.7045891_7045896del" "" "" "" "ATN1(NM_001940.3):c.1461_1466delACAGCA (p.(Gln488_Gln489del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936728_6936733del" "" "likely benign" "" "0000549074" "0" "30" "12" "7045918" "7045938" "del" "0" "02325" "ATN1_000090" "g.7045918_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1488_1508delGCAGCAGCAGCAGCAGCAGCA (p.Q496_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936755_6936775del" "" "likely benign" "" "0000549076" "0" "30" "12" "7045921" "7045938" "del" "0" "02325" "ATN1_000109" "g.7045921_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1491_1508delGCAGCAGCAGCAGCAGCA (p.Q497_Q502del), ATN1(NM_001940.4):c.1491_1508del (p.(Gln497_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936758_6936775del" "" "likely benign" "" "0000549077" "0" "30" "12" "7045924" "7045938" "del" "0" "02325" "ATN1_000110" "g.7045924_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1494_1508delGCAGCAGCAGCAGCA (p.Q498_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936761_6936775del" "" "likely benign" "" "0000549079" "0" "10" "12" "7045924" "7045938" "dup" "0" "02325" "ATN1_000111" "g.7045924_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup), ATN1(NM_001940.4):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936761_6936775dup" "" "benign" "" "0000549080" "0" "30" "12" "7045927" "7045938" "del" "0" "02325" "ATN1_000091" "g.7045927_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1497_1508delGCAGCAGCAGCA (p.Q499_Q502del), ATN1(NM_001940.4):c.1497_1508del (p.(Gln499_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936764_6936775del" "" "likely benign" "" "0000549082" "0" "30" "12" "7045930" "7045938" "del" "0" "02325" "ATN1_000112" "g.7045930_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1500_1508delGCAGCAGCA (p.Q500_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936767_6936775del" "" "likely benign" "" "0000549084" "0" "10" "12" "7045933" "7045938" "del" "0" "02325" "ATN1_000114" "g.7045933_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1503_1508delGCAGCA (p.Q501_Q502del), ATN1(NM_001940.4):c.1503_1508del (p.(Gln501_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936770_6936775del" "" "benign" "" "0000549086" "0" "30" "12" "7045933" "7045938" "dup" "0" "01943" "ATN1_000115" "g.7045933_7045938dup" "" "" "" "ATN1(NM_001007026.1):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001007026.2):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001940.4):c.1503_15..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936770_6936775dup" "" "likely benign" "" "0000549087" "0" "10" "12" "7045936" "7045938" "del" "0" "02326" "ATN1_000092" "g.7045936_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1506_1508delGCA (p.Q502del), ATN1(NM_001940.4):c.1506_1508delGCA (p.Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936773_6936775del" "" "benign" "" "0000549088" "0" "30" "12" "7045936" "7045938" "del" "0" "02325" "ATN1_000092" "g.7045936_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1506_1508delGCA (p.Q502del), ATN1(NM_001940.4):c.1506_1508delGCA (p.Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936773_6936775del" "" "likely benign" "" "0000549089" "0" "30" "12" "7045936" "7045938" "dup" "0" "01943" "ATN1_000093" "g.7045936_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1506_1508dupGCA (p.Q502dup), ATN1(NM_001940.4):c.1506_1508dupGCA (p.Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936773_6936775dup" "" "likely benign" "" "0000549090" "0" "10" "12" "7045936" "7045938" "dup" "0" "02325" "ATN1_000093" "g.7045936_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1506_1508dupGCA (p.Q502dup), ATN1(NM_001940.4):c.1506_1508dupGCA (p.Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936773_6936775dup" "" "benign" "" "0000549091" "0" "50" "12" "7046432" "7046432" "subst" "0" "02325" "ATN1_000116" "g.7046432G>C" "" "" "" "ATN1(NM_001007026.2):c.2002G>C (p.G668R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6937269G>C" "" "VUS" "" "0000549092" "0" "10" "12" "7047188" "7047205" "dup" "0" "02325" "C12orf57_000006" "g.7047188_7047205dup" "" "" "" "ATN1(NM_001007026.2):c.2475_2492dupAGAGCGCGAGCGCGAGAA (p.R829_E834dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6938025_6938042dup" "" "benign" "" "0000549093" "0" "30" "12" "7047911" "7047911" "subst" "0.00173241" "01943" "C12orf57_000007" "g.7047911G>A" "" "" "" "ATN1(NM_001007026.1):c.2785G>A (p.A929T), ATN1(NM_001007026.2):c.2785G>A (p.A929T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6938748G>A" "" "likely benign" "" "0000549094" "0" "30" "12" "7047949" "7047949" "subst" "0.00197976" "01943" "C12orf57_000008" "g.7047949C>G" "" "" "" "ATN1(NM_001007026.1):c.2823C>G (p.D941E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6938786C>G" "" "likely benign" "" "0000549096" "0" "50" "12" "7050682" "7050683" "del" "0" "02325" "C12orf57_000010" "g.7050682_7050683del" "" "" "" "ATN1(NM_001007026.2):c.3504_3505delCA (p.H1168Qfs*138)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6941519_6941520del" "" "VUS" "" "0000549097" "0" "50" "12" "7054961" "7054961" "subst" "0.000571205" "01804" "C12orf57_000011" "g.7054961A>G" "" "" "" "C12orf57(NM_138425.4):c.257A>G (p.(Lys86Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6945798A>G" "" "VUS" "" "0000593640" "0" "90" "12" "7048286" "7048286" "subst" "0" "00006" "ATN1_000096" "g.7048286C>A" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939123C>A" "" "pathogenic (dominant)" "" "0000593641" "0" "90" "12" "7048298" "7048298" "subst" "0" "00006" "ATN1_000097" "g.7048298C>T" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939135C>T" "" "pathogenic (dominant)" "" "0000593642" "0" "90" "12" "7048303" "7048304" "ins" "0" "00006" "ATN1_000099" "g.7048303_7048304insAACCTG" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939140_6939141insAACCTG" "" "pathogenic (dominant)" "" "0000593643" "0" "90" "12" "7048303" "7048304" "ins" "0" "00006" "ATN1_000100" "g.7048303_7048304insGACCTG" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939140_6939141insGACCTG" "" "pathogenic (dominant)" "" "0000593644" "0" "90" "12" "7048304" "7048304" "subst" "0" "00006" "ATN1_000098" "g.7048304C>T" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939141C>T" "" "pathogenic (dominant)" "" "0000593645" "0" "90" "12" "7048310" "7048310" "subst" "0" "00006" "ATN1_000101" "g.7048310C>G" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939147C>G" "" "pathogenic (dominant)" "" "0000593646" "0" "90" "12" "7048314" "7048314" "subst" "0" "00006" "ATN1_000102" "g.7048314T>G" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939151T>G" "" "pathogenic (dominant)" "" "0000593647" "0" "90" "12" "7048311" "7048311" "subst" "0" "00006" "ATN1_000103" "g.7048311A>G" "" "{PMID:Palmer 2019:30827498}, {DOI:Palmer 2019:10.1016/j.ajhg.2019.01.013}" "" "" "" "De novo" "" "" "0" "" "" "g.6939148A>G" "" "pathogenic (dominant)" "" "0000593648" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000117" "g.(7045875_7045967)ins[159]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[159]" "" "pathogenic (dominant)" "" "0000593649" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000117" "g.(7045875_7045967)ins[159]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[159]" "" "pathogenic (dominant)" "" "0000593650" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000117" "g.(7045875_7045967)ins[159]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[159]" "" "pathogenic (dominant)" "" "0000593651" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000117" "g.(7045875_7045967)ins[159]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[159]" "" "pathogenic (dominant)" "" "0000593652" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000118" "g.(7045875_7045967)ins[156]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[156]" "" "pathogenic (dominant)" "" "0000593653" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000118" "g.(7045875_7045967)ins[156]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[156]" "" "pathogenic (dominant)" "" "0000593654" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000119" "g.(7045875_7045967)ins[150]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[150]" "" "pathogenic (dominant)" "" "0000593655" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000119" "g.(7045875_7045967)ins[150]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[150]" "" "pathogenic (dominant)" "" "0000593656" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000120" "g.(7045875_7045967)ins[147]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[147]" "" "pathogenic (dominant)" "" "0000593657" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000120" "g.(7045875_7045967)ins[147]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[147]" "" "pathogenic (dominant)" "" "0000593658" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000120" "g.(7045875_7045967)ins[147]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[147]" "" "pathogenic (dominant)" "" "0000593659" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000121" "g.(7045875_7045967)ins[144]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[144]" "" "pathogenic (dominant)" "" "0000593660" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000121" "g.(7045875_7045967)ins[144]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[144]" "" "pathogenic (dominant)" "" "0000593661" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000122" "g.(7045875_7045967)ins[141]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[141]" "" "pathogenic (dominant)" "" "0000593662" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000122" "g.(7045875_7045967)ins[141]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[141]" "" "pathogenic (dominant)" "" "0000593663" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000123" "g.(7045875_7045967)ins[138]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[138]" "" "pathogenic (dominant)" "" "0000593664" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000123" "g.(7045875_7045967)ins[138]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[138]" "" "pathogenic (dominant)" "" "0000593665" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000123" "g.(7045875_7045967)ins[138]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[138]" "" "pathogenic (dominant)" "" "0000593666" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000124" "g.(7045875_7045967)ins[135]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[135]" "" "pathogenic (dominant)" "" "0000593667" "1" "90" "12" "7045875" "7045967" "" "0" "00006" "ATN1_000125" "g.(7045875_7045967)ins[117]" "" "{PMID:Koide 1994:8136840}" "" "" "" "Germline" "" "" "0" "" "" "g.(6936712_6936804)ins[117]" "" "pathogenic (dominant)" "" "0000614373" "0" "10" "12" "7045927" "7045938" "dup" "0" "02325" "ATN1_000129" "g.7045927_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1497_1508dupGCAGCAGCAGCA (p.Q499_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936764_6936775dup" "" "benign" "" "0000622965" "0" "30" "12" "7045417" "7045417" "subst" "9.06977E-5" "01943" "ATN1_000127" "g.7045417G>A" "" "" "" "ATN1(NM_001940.4):c.987G>A (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936254G>A" "" "likely benign" "" "0000622966" "0" "30" "12" "7045891" "7045899" "del" "0" "02325" "ATN1_000128" "g.7045891_7045899del" "" "" "" "ATN1(NM_001007026.2):c.1461_1469delACAGCAGCA (p.Q500_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6936728_6936736del" "" "likely benign" "" "0000622967" "0" "90" "12" "7053637" "7053637" "subst" "0" "02325" "C12orf57_000013" "g.7053637A>G" "" "" "" "C12orf57(NM_001301838.2):c.-55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6944474A>G" "" "pathogenic" "" "0000657191" "0" "50" "12" "7046382" "7046382" "subst" "0" "02325" "ATN1_000130" "g.7046382C>G" "" "" "" "ATN1(NM_001007026.2):c.1952C>G (p.T651R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6937219C>G" "" "VUS" "" "0000657192" "0" "50" "12" "7053317" "7053317" "subst" "4.46671E-5" "02325" "C12orf57_000002" "g.7053317G>C" "" "" "" "C12orf57(NM_138425.2):c.33G>C (p.(Leu11Phe)), C12orf57(NM_138425.4):c.33G>C (p.L11F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6944154G>C" "" "VUS" "" "0000679636" "0" "50" "12" "7045915" "7045938" "del" "0" "01943" "ATN1_000131" "g.7045915_7045938del" "" "" "" "ATN1(NM_001940.4):c.1485_1508delGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679637" "0" "50" "12" "7045938" "7045939" "ins" "0" "02325" "ATN1_000132" "g.7045938_7045939insGAA" "" "" "" "ATN1(NM_001007026.2):c.1508_1509insGAA (p.Q502_H503insQN)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691422" "0" "30" "12" "7045286" "7045286" "subst" "5.5382E-5" "01943" "ATN1_000133" "g.7045286C>T" "" "" "" "ATN1(NM_001940.4):c.856C>T (p.P286S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691423" "0" "30" "12" "7045891" "7045902" "del" "0" "02325" "ATN1_000134" "g.7045891_7045902del" "" "" "" "ATN1(NM_001007026.2):c.1461_1472delACAGCAGCAGCA (p.Q499_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691424" "0" "50" "12" "7046148" "7046162" "del" "0" "01943" "ATN1_000135" "g.7046148_7046162del" "" "" "" "ATN1(NM_001940.4):c.1718_1732delACTCTTCCTCTTCCA (p.N573_S577del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691425" "0" "50" "12" "7047199" "7047216" "dup" "0" "01943" "C12orf57_000014" "g.7047199_7047216dup" "" "" "" "ATN1(NM_001940.4):c.2486_2503dupGCGAGAAGGAGCGCGAGC (p.R829_E834dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691426" "0" "30" "12" "7053685" "7053685" "subst" "5.69471E-5" "01943" "C12orf57_000015" "g.7053685A>G" "" "" "" "C12orf57(NM_138425.3):c.99A>G (p.A33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698195" "0" "70" "12" "7045476" "7045476" "del" "0" "00006" "ATN1_000136" "g.7045476del" "" "{PMID:Zhu 2015:25590979}" "" "1044delG" "" "De novo" "" "" "0" "" "" "g.6936313del" "" "VUS" "" "0000712832" "1" "50" "12" "7047854" "7047854" "subst" "0" "00000" "ATN1_000137" "g.7047854G>C" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.6938691G>C" "" "VUS" "" "0000712833" "2" "50" "12" "7047949" "7047949" "subst" "0.00197976" "00000" "C12orf57_000008" "g.7047949C>G" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs146691350" "0" "" "" "g.6938786C>G" "" "VUS" "" "0000724221" "0" "30" "12" "7045822" "7045822" "subst" "0.000142189" "01943" "ATN1_000138" "g.7045822C>T" "" "" "" "ATN1(NM_001940.4):c.1392C>T (p.P464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724222" "0" "50" "12" "7045912" "7045938" "dup" "0" "02325" "ATN1_000139" "g.7045912_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1482_1508dupGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Q494_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724223" "0" "30" "12" "7045915" "7045938" "dup" "0" "01943" "ATN1_000140" "g.7045915_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502dup), ATN1(NM_001940.4):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q50...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724224" "0" "30" "12" "7045924" "7045938" "dup" "0" "02326" "ATN1_000111" "g.7045924_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup), ATN1(NM_001940.4):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724225" "0" "30" "12" "7045939" "7045941" "dup" "0" "01943" "ATN1_000141" "g.7045939_7045941dup" "" "" "" "ATN1(NM_001007026.2):c.1509_1511dupTCA (p.H504dup), ATN1(NM_001940.4):c.1509_1511dupTCA (p.H504dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724226" "0" "30" "12" "7046398" "7046398" "subst" "0.00158103" "01943" "ATN1_000142" "g.7046398A>C" "" "" "" "ATN1(NM_001940.4):c.1968A>C (p.G656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724227" "0" "30" "12" "7050610" "7050610" "subst" "2.86685E-5" "01943" "C12orf57_000016" "g.7050610C>T" "" "" "" "ATN1(NM_001940.4):c.3432C>T (p.H1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724228" "0" "90" "12" "7053285" "7053285" "subst" "3.24863E-5" "01943" "C12orf57_000001" "g.7053285A>G" "" "" "" "C12orf57(NM_138425.3):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724229" "0" "30" "12" "7053672" "7053672" "subst" "0.000488723" "01943" "C12orf57_000017" "g.7053672C>T" "" "" "" "C12orf57(NM_138425.3):c.86C>T (p.A29V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724230" "0" "30" "12" "7053840" "7053858" "dup" "0" "01943" "C12orf57_000018" "g.7053840_7053858dup" "" "" "" "C12orf57(NM_001301838.1):c.124+22_124+40dupGGGTCAGACGCGGGAAGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805931" "0" "30" "12" "7043744" "7043744" "subst" "0.000398499" "01943" "ATN1_000143" "g.7043744G>A" "" "" "" "ATN1(NM_001007026.2):c.279+3G>A, ATN1(NM_001940.4):c.279+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805932" "0" "30" "12" "7045930" "7045938" "del" "0" "02326" "ATN1_000112" "g.7045930_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1500_1508delGCAGCAGCA (p.Q500_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853516" "0" "30" "12" "7047134" "7047134" "subst" "8.93852E-5" "01943" "ATN1_000148" "g.7047134C>T" "" "" "" "ATN1(NM_001940.4):c.2421C>T (p.A807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853517" "0" "30" "12" "7047911" "7047911" "subst" "0.00173241" "02325" "C12orf57_000007" "g.7047911G>A" "" "" "" "ATN1(NM_001007026.1):c.2785G>A (p.A929T), ATN1(NM_001007026.2):c.2785G>A (p.A929T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853518" "0" "50" "12" "7050147" "7050147" "subst" "0" "02325" "C12orf57_000021" "g.7050147C>T" "" "" "" "ATN1(NM_001007026.2):c.3319C>T (p.P1107S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853519" "0" "50" "12" "7050543" "7050543" "subst" "0" "02325" "C12orf57_000022" "g.7050543C>G" "" "" "" "ATN1(NM_001007026.2):c.3365C>G (p.P1122R), ATN1(NM_001940.4):c.3365C>G (p.(Pro1122Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863122" "0" "50" "12" "7045254" "7045254" "subst" "0.000465445" "01943" "ATN1_000144" "g.7045254C>T" "" "" "" "ATN1(NM_001940.4):c.824C>T (p.P275L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863123" "0" "50" "12" "7045924" "7045938" "dup" "0" "01943" "ATN1_000111" "g.7045924_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup), ATN1(NM_001940.4):c.1494_1508dupGCAGCAGCAGCAGCA (p.Q498_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863124" "0" "30" "12" "7045971" "7045971" "subst" "0.000650454" "01943" "ATN1_000145" "g.7045971C>T" "" "" "" "ATN1(NM_001940.4):c.1541C>T (p.A514V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863125" "0" "30" "12" "7046145" "7046145" "subst" "1.22019E-5" "01804" "ATN1_000146" "g.7046145C>A" "" "" "" "ATN1(NM_001007026.1):c.1715C>A (p.(Ser572Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863126" "0" "30" "12" "7046620" "7046620" "subst" "0" "01943" "ATN1_000147" "g.7046620G>A" "" "" "" "ATN1(NM_001940.4):c.2190G>A (p.P730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890770" "0" "10" "12" "7045891" "7045917" "del" "0" "02325" "ATN1_000149" "g.7045891_7045917del" "" "" "" "ATN1(NM_001007026.2):c.1461_1487delACAGCAGCAGCAGCAGCAGCAGCAGCA (p.Q494_Q502del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890771" "0" "10" "12" "7045915" "7045938" "dup" "0" "02325" "ATN1_000140" "g.7045915_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q502dup), ATN1(NM_001940.4):c.1485_1508dupGCAGCAGCAGCAGCAGCAGCAGCA (p.Q495_Q50...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890772" "0" "10" "12" "7045921" "7045938" "dup" "0" "02325" "ATN1_000150" "g.7045921_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1491_1508dupGCAGCAGCAGCAGCAGCA (p.Q497_Q502dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890773" "0" "50" "12" "7047678" "7047678" "subst" "0" "02329" "C12orf57_000024" "g.7047678G>A" "" "" "" "ATN1(NM_001940.4):c.2552G>A (p.C851Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890774" "0" "10" "12" "7052978" "7052978" "subst" "0" "02325" "C12orf57_000025" "g.7052978G>A" "" "" "" "RNU7-1(NR_023317.1):n.-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890775" "0" "50" "12" "7052979" "7052979" "subst" "0" "02325" "C12orf57_000026" "g.7052979C>T" "" "" "" "RNU7-1(NR_023317.1):n.1C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890776" "0" "10" "12" "7053014" "7053014" "subst" "0" "02325" "C12orf57_000027" "g.7053014C>T" "" "" "" "RNU7-1(NR_023317.1):n.36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890777" "0" "50" "12" "7053018" "7053018" "subst" "0" "02325" "C12orf57_000028" "g.7053018C>T" "" "" "" "RNU7-1(NR_023317.1):n.40C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890778" "0" "10" "12" "7053022" "7053022" "subst" "0" "02325" "C12orf57_000029" "g.7053022C>T" "" "" "" "RNU7-1(NR_023317.1):n.44C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890779" "0" "30" "12" "7053029" "7053029" "subst" "0" "02325" "C12orf57_000030" "g.7053029C>T" "" "" "" "RNU7-1(NR_023317.1):n.51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890780" "0" "30" "12" "7053038" "7053038" "subst" "0" "02325" "C12orf57_000031" "g.7053038C>T" "" "" "" "RNU7-1(NR_023317.1):n.60C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913940" "0" "30" "12" "7043744" "7043744" "subst" "0.000398499" "02325" "ATN1_000143" "g.7043744G>A" "" "" "" "ATN1(NM_001007026.2):c.279+3G>A, ATN1(NM_001940.4):c.279+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913941" "0" "50" "12" "7045918" "7045938" "dup" "0" "02325" "ATN1_000108" "g.7045918_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1488_1508dupGCAGCAGCAGCAGCAGCAGCA (p.Q496_Q502dup), ATN1(NM_001940.4):c.1488_1508dup (p.(Gln496_Gln502dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913942" "0" "30" "12" "7045933" "7045938" "dup" "0" "02325" "ATN1_000115" "g.7045933_7045938dup" "" "" "" "ATN1(NM_001007026.1):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001007026.2):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001940.4):c.1503_15..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913943" "0" "30" "12" "7045939" "7045941" "dup" "0" "02325" "ATN1_000141" "g.7045939_7045941dup" "" "" "" "ATN1(NM_001007026.2):c.1509_1511dupTCA (p.H504dup), ATN1(NM_001940.4):c.1509_1511dupTCA (p.H504dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913944" "0" "30" "12" "7053027" "7053027" "subst" "0" "02325" "C12orf57_000032" "g.7053027T>C" "" "" "" "RNU7-1(NR_023317.1):n.49T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913945" "0" "30" "12" "7053030" "7053030" "subst" "0" "02325" "C12orf57_000033" "g.7053030C>T" "" "" "" "RNU7-1(NR_023317.1):n.52C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913946" "0" "50" "12" "7053032" "7053032" "subst" "0" "02325" "C12orf57_000034" "g.7053032G>T" "" "" "" "C12orf57(NR_126035.1):n.53G>T, RNU7-1(NR_023317.1):n.54G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913947" "0" "10" "12" "7053058" "7053058" "subst" "0" "02325" "C12orf57_000035" "g.7053058C>T" "" "" "" "RNU7-1(NR_023317.1):n.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913948" "0" "50" "12" "7053266" "7053266" "subst" "4.06072E-6" "02325" "C12orf57_000036" "g.7053266C>T" "" "" "" "C12orf57(NM_138425.4):c.-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930141" "0" "50" "12" "7046154" "7046154" "subst" "1.22019E-5" "02325" "ATN1_000151" "g.7046154C>A" "" "" "" "ATN1(NM_001007026.2):c.1724C>A (p.S575Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930142" "0" "30" "12" "7052973" "7052973" "subst" "0" "02325" "C12orf57_000037" "g.7052973A>G" "" "" "" "RNU7-1(NR_023317.1):n.-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930143" "0" "30" "12" "7053026" "7053026" "subst" "0" "02325" "C12orf57_000038" "g.7053026T>C" "" "" "" "RNU7-1(NR_023317.1):n.48T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930144" "0" "30" "12" "7053044" "7053044" "subst" "0" "02325" "C12orf57_000039" "g.7053044T>C" "" "" "" "RNU7-1(NR_023317.1):n.*3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930145" "0" "30" "12" "7053059" "7053059" "subst" "0" "02325" "C12orf57_000040" "g.7053059C>T" "" "" "" "RNU7-1(NR_023317.1):n.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950026" "0" "70" "12" "7048292" "7048292" "subst" "0" "02327" "C12orf57_000041" "g.7048292C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950027" "0" "30" "12" "7053057" "7053057" "subst" "0" "02325" "C12orf57_000042" "g.7053057G>A" "" "" "" "RNU7-1(NR_023317.1):n.*16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959842" "3" "50" "12" "7045918" "7045938" "del" "0" "00006" "ATN1_000090" "g.7045918_7045938del" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.6936755_6936775del" "" "likely benign" "" "0000959843" "3" "50" "12" "7045921" "7045938" "del" "0" "00006" "ATN1_000109" "g.7045921_7045938del" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.6936758_6936775del" "" "likely benign" "" "0000959915" "3" "50" "12" "7045918" "7045938" "del" "0" "00006" "ATN1_000090" "g.7045918_7045938del" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.6936755_6936775del" "" "likely benign" "" "0000959916" "3" "50" "12" "7045921" "7045938" "del" "0" "00006" "ATN1_000109" "g.7045921_7045938del" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.6936758_6936775del" "" "likely benign" "" "0000967069" "0" "30" "12" "7045933" "7045938" "dup" "0" "02329" "ATN1_000115" "g.7045933_7045938dup" "" "" "" "ATN1(NM_001007026.1):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001007026.2):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001940.4):c.1503_15..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967072" "0" "50" "12" "7047188" "7047205" "del" "0" "02325" "C12orf57_000043" "g.7047188_7047205del" "" "" "" "ATN1(NM_001007026.2):c.2475_2492delAGAGCGCGAGCGCGAGAA (p.R829_E834del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980446" "0" "50" "12" "7045902" "7045903" "ins" "0" "01804" "ATN1_000153" "g.7045902_7045903insACAGCAGCA" "" "" "" "ATN1(NM_001940.4):c.1472_1473insACAGCAGCA (p.(Gln500_Gln502dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980447" "0" "30" "12" "7045921" "7045938" "del" "0" "01804" "ATN1_000109" "g.7045921_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1491_1508delGCAGCAGCAGCAGCAGCA (p.Q497_Q502del), ATN1(NM_001940.4):c.1491_1508del (p.(Gln497_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980448" "0" "50" "12" "7045933" "7045938" "del" "0" "01804" "ATN1_000114" "g.7045933_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1503_1508delGCAGCA (p.Q501_Q502del), ATN1(NM_001940.4):c.1503_1508del (p.(Gln501_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980449" "0" "30" "12" "7045940" "7045942" "dup" "0" "01804" "ATN1_000154" "g.7045940_7045942dup" "" "" "" "ATN1(NM_001940.4):c.1510_1512dup (p.(His504dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980450" "0" "50" "12" "7046684" "7046684" "subst" "0" "01804" "ATN1_000155" "g.7046684A>C" "" "" "" "ATN1(NM_001940.4):c.2254A>C (p.(Lys752Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980451" "0" "50" "12" "7046712" "7046712" "subst" "0" "01804" "ATN1_000156" "g.7046712G>C" "" "" "" "ATN1(NM_001940.4):c.2282G>C (p.(Ser761Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980452" "0" "50" "12" "7053042" "7053042" "subst" "0" "02325" "C12orf57_000044" "g.7053042C>T" "" "" "" "RNU7-1(NR_023317.1):n.*1C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980453" "0" "50" "12" "7053271" "7053271" "subst" "0.000296442" "01804" "C12orf57_000045" "g.7053271G>C" "" "" "" "C12orf57(NM_001301834.1):c.-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000309" "0" "30" "12" "7043696" "7043696" "subst" "0" "01804" "ATN1_000157" "g.7043696G>C" "" "" "" "ATN1(NM_001940.3):c.234G>C (p.(Glu78Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000310" "0" "50" "12" "7044755" "7044755" "subst" "0" "01804" "ATN1_000158" "g.7044755G>T" "" "" "" "ATN1(NM_001940.3):c.325G>T (p.(Asp109Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000311" "0" "30" "12" "7045326" "7045326" "subst" "3.71408E-5" "01804" "ATN1_000159" "g.7045326C>T" "" "" "" "ATN1(NM_001940.3):c.896C>T (p.(Pro299Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000312" "0" "30" "12" "7045890" "7045891" "ins" "0" "01804" "ATN1_000160" "g.7045890_7045891insGC" "" "" "" "ATN1(NM_001940.3):c.1460_1461insGC (p.(Gln488fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000313" "0" "30" "12" "7046026" "7046026" "subst" "0" "01804" "ATN1_000161" "g.7046026G>T" "" "" "" "ATN1(NM_001940.3):c.1596G>T (p.(Met532Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000314" "0" "50" "12" "7046050" "7046050" "subst" "8.12592E-6" "01804" "ATN1_000162" "g.7046050G>T" "" "" "" "ATN1(NM_001940.3):c.1620G>T (p.(Arg540Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000315" "0" "30" "12" "7046496" "7046496" "subst" "0" "01804" "ATN1_000163" "g.7046496C>T" "" "" "" "ATN1(NM_001940.3):c.2066C>T (p.(Ser689Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000316" "0" "30" "12" "7050620" "7050620" "subst" "8.19021E-6" "01804" "C12orf57_000046" "g.7050620G>A" "" "" "" "ATN1(NM_001940.3):c.3442G>A (p.(Ala1148Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015015" "0" "50" "12" "7044762" "7044762" "subst" "2.03331E-5" "02325" "ATN1_000164" "g.7044762G>A" "" "" "" "ATN1(NM_001007026.2):c.332G>A (p.R111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039438" "0" "30" "12" "7045783" "7045783" "subst" "0" "01804" "ATN1_000165" "g.7045783C>G" "" "" "" "ATN1(NM_001940.4):c.1353C>G (p.(Leu451=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039439" "0" "30" "12" "7045885" "7045899" "del" "0" "01804" "ATN1_000166" "g.7045885_7045899del" "" "" "" "ATN1(NM_001940.4):c.1455_1469del (p.(Gln498_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039440" "0" "30" "12" "7045918" "7045938" "dup" "0" "01804" "ATN1_000108" "g.7045918_7045938dup" "" "" "" "ATN1(NM_001007026.2):c.1488_1508dupGCAGCAGCAGCAGCAGCAGCA (p.Q496_Q502dup), ATN1(NM_001940.4):c.1488_1508dup (p.(Gln496_Gln502dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039441" "0" "30" "12" "7045927" "7045938" "del" "0" "01804" "ATN1_000091" "g.7045927_7045938del" "" "" "" "ATN1(NM_001007026.2):c.1497_1508delGCAGCAGCAGCA (p.Q499_Q502del), ATN1(NM_001940.4):c.1497_1508del (p.(Gln499_Gln502del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039442" "0" "30" "12" "7045930" "7045938" "dup" "0" "01804" "ATN1_000113" "g.7045930_7045938dup" "" "" "" "ATN1(NM_001940.4):c.1500_1508dupGCAGCAGCA (p.(Gln500_Gln502dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039443" "0" "50" "12" "7050543" "7050543" "subst" "0" "01804" "C12orf57_000022" "g.7050543C>G" "" "" "" "ATN1(NM_001007026.2):c.3365C>G (p.P1122R), ATN1(NM_001940.4):c.3365C>G (p.(Pro1122Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039444" "0" "30" "12" "7053050" "7053050" "subst" "0" "02325" "C12orf57_000047" "g.7053050G>A" "" "" "" "RNU7-1(NR_023317.1):n.*9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039445" "0" "50" "12" "7053212" "7053212" "subst" "0" "01804" "C12orf57_000048" "g.7053212C>T" "" "" "" "C12orf57(NM_138425.4):c.-73C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046396" "0" "10" "12" "7052974" "7052974" "subst" "0" "02325" "C12orf57_000049" "g.7052974C>T" "" "" "" "RNU7-1(NR_023317.1):n.-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046397" "0" "50" "12" "7052998" "7052998" "subst" "0" "02325" "C12orf57_000050" "g.7052998G>A" "" "" "" "RNU7-1(NR_023317.1):n.20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046398" "0" "50" "12" "7053031" "7053031" "subst" "0" "02325" "C12orf57_000051" "g.7053031G>A" "" "" "" "RNU7-1(NR_023317.1):n.53G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046399" "0" "30" "12" "7053032" "7053032" "subst" "0" "02326" "C12orf57_000034" "g.7053032G>T" "" "" "" "C12orf57(NR_126035.1):n.53G>T, RNU7-1(NR_023317.1):n.54G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046400" "0" "50" "12" "7053061" "7053061" "subst" "0" "02325" "C12orf57_000052" "g.7053061A>G" "" "" "" "RNU7-1(NR_023317.1):n.*20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054228" "0" "50" "12" "7045262" "7045262" "subst" "0" "01804" "ATN1_000167" "g.7045262A>G" "" "" "" "ATN1(NM_001940.4):c.832A>G (p.(Thr278Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054229" "0" "30" "12" "7045933" "7045938" "dup" "0" "01804" "ATN1_000115" "g.7045933_7045938dup" "" "" "" "ATN1(NM_001007026.1):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001007026.2):c.1503_1508dupGCAGCA (p.Q501_Q502dup), ATN1(NM_001940.4):c.1503_15..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054230" "0" "30" "12" "7046514" "7046514" "subst" "2.12017E-5" "01804" "ATN1_000168" "g.7046514G>A" "" "" "" "ATN1(NM_001940.4):c.2084G>A (p.(Gly695Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054231" "0" "50" "12" "7048062" "7048062" "subst" "0" "01804" "C12orf57_000053" "g.7048062T>A" "" "" "" "ATN1(NM_001940.4):c.2936T>A (p.(Leu979Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065679" "0" "50" "12" "7046325" "7046325" "subst" "0" "02325" "ATN1_000169" "g.7046325C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065680" "0" "30" "12" "7046845" "7046845" "subst" "0" "01804" "ATN1_000170" "g.7046845T>C" "" "" "" "ATN1(NM_001940.4):c.2294+121T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065681" "0" "90" "12" "7053018" "7053025" "del" "0" "02325" "RNU7-1_000002" "g.7053018_7053025del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001065682" "0" "30" "12" "7053021" "7053022" "ins" "0" "02325" "C12orf57_000054" "g.7053021_7053022insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065683" "0" "50" "12" "7053037" "7053037" "subst" "0" "02325" "C12orf57_000055" "g.7053037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065684" "0" "70" "12" "7053337" "7053337" "subst" "4.06095E-6" "02325" "C12orf57_000056" "g.7053337G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001070796" "0" "70" "12" "7045879" "7045879" "subst" "0" "00006" "ATN1_000171" "g.7045879C>G" "" "{PMID:Lee 2026:41828661}" "" "" "" "De novo" "" "" "0" "" "" "g.6936716C>G" "" "likely pathogenic (dominant)" "" ## 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 ATN1 ## Count = 216 "{{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}}" "0000170197" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins123]" "r.(?)" "p.(Gln488_Gln502)[56]" "5" "CAG[56]" "0000170198" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins114]" "r.(?)" "p.(Gln488_Gln502)[53]" "5" "CAG[53]" "0000170199" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins138]" "r.(?)" "p.(Gln488_Gln502)[61]" "5" "CAG[61]" "0000170200" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins156]" "r.(?)" "p.(Gln488_Gln502)[67]" "5" "CAG[67]" "0000170201" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins132]" "r.(?)" "p.(Gln488_Gln502)[59]" "5" "CAG[59]" "0000170202" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins123]" "r.(?)" "p.(Gln488_Gln502)[56]" "5" "CAG[56]" "0000170203" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins126]" "r.(?)" "p.(Gln488_Gln502)[57]" "5" "CAG[57]" "0000170204" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins129]" "r.(?)" "p.(Gln488_Gln502)[58]" "5" "CAG[58]" "0000170205" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins129]" "r.(?)" "p.(Gln488_Gln502)[58]" "5" "CAG[58]" "0000170206" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins129]" "r.(?)" "p.(Gln488_Gln502)[58]" "5" "CAG[58]" "0000170207" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins129]" "r.(?)" "p.(Gln488_Gln502)[58]" "5" "CAG[58]" "0000170208" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins132]" "r.(?)" "p.(Gln488_Gln502)[59]" "5" "CAG[59]" "0000170209" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins132]" "r.(?)" "p.(Gln488_Gln502)[59]" "5" "CAG[59]" "0000170210" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins132]" "r.(?)" "p.(Gln488_Gln502)[59]" "5" "CAG[59]" "0000170211" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins135]" "r.(?)" "p.(Gln488_Gln502)[60]" "5" "CAG[60]" "0000170212" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins135]" "r.(?)" "p.(Gln488_Gln502)[60]" "5" "CAG[60]" "0000170213" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins135]" "r.(?)" "p.(Gln488_Gln502)[60]" "5" "CAG[60]" "0000170214" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins135]" "r.(?)" "p.(Gln488_Gln502)[60]" "5" "CAG[60]" "0000170215" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins138]" "r.(?)" "p.(Gln488_Gln502)[61]" "5" "CAG[61]" "0000170216" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins141]" "r.(?)" "p.(Gln488_Gln502)[62]" "5" "CAG[62]" "0000170217" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins141]" "r.(?)" "p.(Gln488_Gln502)[62]" "5" "CAG[62]" "0000170218" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins144]" "r.(?)" "p.(Gln488_Gln502)[63]" "5" "CAG[63]" "0000170219" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins144]" "r.(?)" "p.(Gln488_Gln502)[63]" "5" "CAG[63]" "0000170220" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins147]" "r.(?)" "p.(Gln488_Gln502)[64]" "5" "CAG[64]" "0000170221" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins147]" "r.(?)" "p.(Gln488_Gln502)[64]" "5" "CAG[64]" "0000170222" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins150]" "r.(?)" "p.(Gln488_Gln502)[65]" "5" "CAG[65]" "0000170223" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins150]" "r.(?)" "p.(Gln488_Gln502)[65]" "5" "CAG[65]" "0000170224" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins150]" "r.(?)" "p.(Gln488_Gln502)[65]" "5" "CAG[65]" "0000170225" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins150]" "r.(?)" "p.(Gln488_Gln502)[65]" "5" "CAG[65]" "0000170226" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins150]" "r.(?)" "p.(Gln488_Gln502)[65]" "5" "CAG[65]" "0000170227" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins153]" "r.(?)" "p.(Gln488_Gln502)[66]" "5" "CAG[66]" "0000170228" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins153]" "r.(?)" "p.(Gln488_Gln502)[66]" "5" "CAG[66]" "0000170229" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins153]" "r.(?)" "p.(Gln488_Gln502)[66]" "5" "CAG[66]" "0000170230" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins153]" "r.(?)" "p.(Gln488_Gln502)[66]" "5" "CAG[66]" "0000170231" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins159]" "r.(?)" "p.(Gln488_Gln502)[68]" "5" "CAG[68]" "0000170232" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins171]" "r.(?)" "p.(Gln488_Gln502)[72]" "5" "CAG[72]" "0000170233" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins177]" "r.(?)" "p.(Gln488_Gln502)[74]" "5" "CAG[74]" "0000170234" "00024257" "90" "1452" "0" "1455" "0" "c.(1439_1537)[ins219]" "r.(?)" "p.(Gln488_Gln502)[88]" "5" "CAG[88]" "0000170235" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del24]" "r.(?)" "p.(Gln488_Gln502)[7]" "5" "CAG[7]" "0000170236" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del15]" "r.(?)" "p.(Gln488_Gln502)[10]" "5" "CAG[10]" "0000170237" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del12]" "r.(?)" "p.(Gln488_Gln502)[11]" "5" "CAG[11]" "0000170238" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del9]" "r.(?)" "p.(Gln488_Gln502)[12]" "5" "CAG[12]" "0000170239" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del6]" "r.(?)" "p.(Gln488_Gln502)[13]" "5" "CAG[13]" "0000170240" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[del0]" "r.(?)" "p.(Gln488_Gln502)[15]" "5" "CAG[15]" "0000170241" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins3]" "r.(?)" "p.(Gln488_Gln502)[16]" "5" "CAG[16]" "0000170242" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins6]" "r.(?)" "p.(Gln488_Gln502)[17]" "5" "CAG[17]" "0000170243" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins9]" "r.(?)" "p.(Gln488_Gln502)[18]" "5" "CAG[18]" "0000170244" "00024257" "10" "0" "0" "0" "0" "c.(1439_1537)[ins12]" "r.(?)" "p.(Gln488_Gln502)[19]" "5" "CAG[19]" "0000170245" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins15]" "r.(?)" "p.(Gln488_Gln502)[20]" "5" "CAG[20]" "0000170246" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins18]" "r.(?)" "p.(Gln488_Gln502)[21]" "5" "CAG[21]" "0000170247" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins21]" "r.(?)" "p.(Gln488_Gln502)[22]" "5" "CAG[22]" "0000170248" "00024257" "10" "1452" "0" "1455" "0" "c.(1439_1537)[ins24]" "r.(?)" "p.(Gln488_Gln502)[23]" "5" "CAG[23]" "0000261170" "00024257" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Glu347Lys)" "" "" "0000272228" "00024257" "50" "6305" "0" "6305" "0" "c.*2732C>G" "r.(=)" "p.(=)" "" "" "0000322654" "00024257" "50" "5947" "0" "5947" "0" "c.*2374G>C" "r.(=)" "p.(=)" "" "" "0000347710" "00024257" "90" "5915" "0" "5915" "0" "c.*2342A>G" "r.(=)" "p.(=)" "" "" "0000347729" "00024257" "50" "7662" "0" "7662" "0" "c.*4089A>G" "r.(=)" "p.(=)" "" "" "0000549070" "00024257" "50" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Trp)" "" "" "0000549072" "00024257" "30" "1461" "0" "1466" "0" "c.1461_1466del" "r.(?)" "p.(Gln501_Gln502del)" "" "" "0000549074" "00024257" "30" "1488" "0" "1508" "0" "c.1488_1508del" "r.(?)" "p.(Gln496_Gln502del)" "" "" "0000549076" "00024257" "30" "1491" "0" "1508" "0" "c.1491_1508del" "r.(?)" "p.(Gln497_Gln502del)" "" "" "0000549077" "00024257" "30" "1494" "0" "1508" "0" "c.1494_1508del" "r.(?)" "p.(Gln498_Gln502del)" "" "" "0000549079" "00024257" "10" "1494" "0" "1508" "0" "c.1494_1508dup" "r.(?)" "p.(Gln498_Gln502dup)" "" "" "0000549080" "00024257" "30" "1497" "0" "1508" "0" "c.1497_1508del" "r.(?)" "p.(Gln499_Gln502del)" "" "" "0000549082" "00024257" "30" "1500" "0" "1508" "0" "c.1500_1508del" "r.(?)" "p.(Gln500_Gln502del)" "" "" "0000549084" "00024257" "10" "1503" "0" "1508" "0" "c.1503_1508del" "r.(?)" "p.(Gln501_Gln502del)" "" "" "0000549086" "00024257" "30" "1503" "0" "1508" "0" "c.1503_1508dup" "r.(?)" "p.(Gln501_Gln502dup)" "" "" "0000549087" "00024257" "10" "1506" "0" "1508" "0" "c.1506_1508del" "r.(?)" "p.(Gln502del)" "" "" "0000549088" "00024257" "30" "1506" "0" "1508" "0" "c.1506_1508del" "r.(?)" "p.(Gln502del)" "" "" "0000549089" "00024257" "30" "1506" "0" "1508" "0" "c.1506_1508dup" "r.(?)" "p.(Gln502dup)" "" "" "0000549090" "00024257" "10" "1506" "0" "1508" "0" "c.1506_1508dup" "r.(?)" "p.(Gln502dup)" "" "" "0000549091" "00024257" "50" "2002" "0" "2002" "0" "c.2002G>C" "r.(?)" "p.(Gly668Arg)" "" "" "0000549092" "00024257" "10" "2475" "0" "2492" "0" "c.2475_2492dup" "r.(?)" "p.(Arg829_Glu834dup)" "" "" "0000549093" "00024257" "30" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "" "0000549094" "00024257" "30" "2823" "0" "2823" "0" "c.2823C>G" "r.(?)" "p.(Asp941Glu)" "" "" "0000549096" "00024257" "50" "3504" "0" "3505" "0" "c.3504_3505del" "r.(?)" "p.(His1168GlnfsTer138)" "" "" "0000549097" "00024257" "50" "7591" "0" "7591" "0" "c.*4018A>G" "r.(=)" "p.(=)" "" "" "0000593640" "00024257" "90" "3160" "0" "3160" "0" "c.3160C>A" "r.(?)" "p.(His1054Asn)" "" "" "0000593641" "00024257" "90" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(His1058Tyr)" "" "" "0000593642" "00024257" "90" "3177" "0" "3178" "0" "c.3177_3178insAACCTG" "r.(?)" "p.(Ser1059_His1060insAsnLeu)" "" "" "0000593643" "00024257" "90" "3177" "0" "3178" "0" "c.3177_3178insGACCTG" "r.(?)" "p.(Ser1059_His1060insAsnLeu)" "" "" "0000593644" "00024257" "90" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(His1060Tyr)" "" "" "0000593645" "00024257" "90" "3184" "0" "3184" "0" "c.3184C>G" "r.(?)" "p.(His1062Asp)" "" "" "0000593646" "00024257" "90" "3188" "0" "3188" "0" "c.3188T>G" "r.(?)" "p.(Leu1063Arg)" "" "" "0000593647" "00024257" "90" "3185" "0" "3185" "0" "c.3185A>G" "r.(?)" "p.(His1062Arg)" "" "" "0000593648" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[159]" "r.(?)" "p.(Gln488_Gln502)[68]" "" "CAG[68]" "0000593649" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[159]" "r.(?)" "p.(Gln488_Gln502)[68]" "" "CAG[68]" "0000593650" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[159]" "r.(?)" "p.(Gln488_Gln502)[68]" "" "CAG[68]" "0000593651" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[159]" "r.(?)" "p.(Gln488_Gln502)[68]" "" "CAG[68]" "0000593652" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[156]" "r.(?)" "p.(Gln488_Gln502)[67]" "" "CAG[67]" "0000593653" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[156]" "r.(?)" "p.(Gln488_Gln502)[67]" "" "CAG[67]" "0000593654" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[150]" "r.(?)" "p.(Gln488_Gln502)[65]" "" "CAG[65]" "0000593655" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[150]" "r.(?)" "p.(Gln488_Gln502)[65]" "" "CAG[65]" "0000593656" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[147]" "r.(?)" "p.(Gln488_Gln502)[64]" "" "CAG[64]" "0000593657" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[147]" "r.(?)" "p.(Gln488_Gln502)[64]" "" "CAG[64]" "0000593658" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[147]" "r.(?)" "p.(Gln488_Gln502)[64]" "" "CAG[64]" "0000593659" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[144]" "r.(?)" "p.(Gln488_Gln502)[63]" "" "CAG[63]" "0000593660" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[144]" "r.(?)" "p.(Gln488_Gln502)[63]" "" "CAG[63]" "0000593661" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[141]" "r.(?)" "p.(Gln488_Gln502)[62]" "" "CAG[62]" "0000593662" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[141]" "r.(?)" "p.(Gln488_Gln502)[62]" "" "CAG[62]" "0000593663" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[138]" "r.(?)" "p.(Gln488_Gln502)[61]" "" "CAG[61]" "0000593664" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[138]" "r.(?)" "p.(Gln488_Gln502)[61]" "" "CAG[61]" "0000593665" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[138]" "r.(?)" "p.(Gln488_Gln502)[61]" "" "CAG[61]" "0000593666" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[135]" "r.(?)" "p.(Gln488_Gln502)[60]" "" "CAG[60]" "0000593667" "00024257" "90" "1445" "0" "1537" "0" "c.(1445_1537)ins[117]" "r.(?)" "p.(Gln488_Gln502)[54]" "" "CAG[54]" "0000614373" "00024257" "10" "1497" "0" "1508" "0" "c.1497_1508dup" "r.(?)" "p.(Gln499_Gln502dup)" "" "" "0000622965" "00024257" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Leu329=)" "" "" "0000622966" "00024257" "30" "1461" "0" "1469" "0" "c.1461_1469del" "r.(?)" "p.(Gln500_Gln502del)" "" "" "0000622967" "00024257" "90" "6267" "0" "6267" "0" "c.*2694A>G" "r.(=)" "p.(=)" "" "" "0000657191" "00024257" "50" "1952" "0" "1952" "0" "c.1952C>G" "r.(?)" "p.(Thr651Arg)" "" "" "0000657192" "00024257" "50" "5947" "0" "5947" "0" "c.*2374G>C" "r.(=)" "p.(=)" "" "" "0000679636" "00024257" "50" "1485" "0" "1508" "0" "c.1485_1508del" "r.(?)" "p.(Gln495_Gln502del)" "" "" "0000679637" "00024257" "50" "1508" "0" "1509" "0" "c.1508_1509insGAA" "r.(?)" "p.(His503delinsGlnAsn)" "" "" "0000691422" "00024257" "30" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Pro286Ser)" "" "" "0000691423" "00024257" "30" "1461" "0" "1472" "0" "c.1461_1472del" "r.(?)" "p.(Gln499_Gln502del)" "" "" "0000691424" "00024257" "50" "1718" "0" "1732" "0" "c.1718_1732del" "r.(?)" "p.(Asn573_Ser577del)" "" "" "0000691425" "00024257" "50" "2486" "0" "2503" "0" "c.2486_2503dup" "r.(?)" "p.(Arg829_Glu834dup)" "" "" "0000691426" "00024257" "30" "6315" "0" "6315" "0" "c.*2742A>G" "r.(=)" "p.(=)" "" "" "0000698195" "00024257" "70" "1044" "0" "1044" "0" "c.1044del" "r.(?)" "p.(Gly349Alafs*23)" "" "" "0000712832" "00024257" "50" "2728" "0" "2728" "0" "c.2728G>C" "r.(?)" "p.(Ala910Pro)" "" "" "0000712833" "00024257" "50" "2823" "0" "2823" "0" "c.2823C>G" "r.(?)" "p.(Asp941Glu)" "" "" "0000724221" "00024257" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Pro464=)" "" "" "0000724222" "00024257" "50" "1482" "0" "1508" "0" "c.1482_1508dup" "r.(?)" "p.(Gln494_Gln502dup)" "" "" "0000724223" "00024257" "30" "1485" "0" "1508" "0" "c.1485_1508dup" "r.(?)" "p.(Gln495_Gln502dup)" "" "" "0000724224" "00024257" "30" "1494" "0" "1508" "0" "c.1494_1508dup" "r.(?)" "p.(Gln498_Gln502dup)" "" "" "0000724225" "00024257" "30" "1509" "0" "1511" "0" "c.1509_1511dup" "r.(?)" "p.(His504dup)" "" "" "0000724226" "00024257" "30" "1968" "0" "1968" "0" "c.1968A>C" "r.(?)" "p.(Gly656=)" "" "" "0000724227" "00024257" "30" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(His1144=)" "" "" "0000724228" "00024257" "90" "5915" "0" "5915" "0" "c.*2342A>G" "r.(=)" "p.(=)" "" "" "0000724229" "00024257" "30" "6302" "0" "6302" "0" "c.*2729C>T" "r.(=)" "p.(=)" "" "" "0000724230" "00024257" "30" "6470" "0" "6488" "0" "c.*2897_*2915dup" "r.(=)" "p.(=)" "" "" "0000805931" "00024257" "30" "279" "3" "279" "3" "c.279+3G>A" "r.spl?" "p.?" "" "" "0000805932" "00024257" "30" "1500" "0" "1508" "0" "c.1500_1508del" "r.(?)" "p.(Gln500_Gln502del)" "" "" "0000853516" "00024257" "30" "2421" "0" "2421" "0" "c.2421C>T" "r.(?)" "p.(Ala807=)" "" "" "0000853517" "00024257" "30" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Ala929Thr)" "" "" "0000853518" "00024257" "50" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Pro1107Ser)" "" "" "0000853519" "00024257" "50" "3365" "0" "3365" "0" "c.3365C>G" "r.(?)" "p.(Pro1122Arg)" "" "" "0000863122" "00024257" "50" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Pro275Leu)" "" "" "0000863123" "00024257" "50" "1494" "0" "1508" "0" "c.1494_1508dup" "r.(?)" "p.(Gln498_Gln502dup)" "" "" "0000863124" "00024257" "30" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Ala514Val)" "" "" "0000863125" "00024257" "30" "1715" "0" "1715" "0" "c.1715C>A" "r.(?)" "p.(Ser572Tyr)" "" "" "0000863126" "00024257" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Pro730=)" "" "" "0000890770" "00024257" "10" "1461" "0" "1487" "0" "c.1461_1487del" "r.(?)" "p.(Gln494_Gln502del)" "" "" "0000890771" "00024257" "10" "1485" "0" "1508" "0" "c.1485_1508dup" "r.(?)" "p.(Gln495_Gln502dup)" "" "" "0000890772" "00024257" "10" "1491" "0" "1508" "0" "c.1491_1508dup" "r.(?)" "p.(Gln497_Gln502dup)" "" "" "0000890773" "00024257" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Cys851Tyr)" "" "" "0000890774" "00024257" "10" "5608" "0" "5608" "0" "c.*2035G>A" "r.(=)" "p.(=)" "" "" "0000890775" "00024257" "50" "5609" "0" "5609" "0" "c.*2036C>T" "r.(=)" "p.(=)" "" "" "0000890776" "00024257" "10" "5644" "0" "5644" "0" "c.*2071C>T" "r.(=)" "p.(=)" "" "" "0000890777" "00024257" "50" "5648" "0" "5648" "0" "c.*2075C>T" "r.(=)" "p.(=)" "" "" "0000890778" "00024257" "10" "5652" "0" "5652" "0" "c.*2079C>T" "r.(=)" "p.(=)" "" "" "0000890779" "00024257" "30" "5659" "0" "5659" "0" "c.*2086C>T" "r.(=)" "p.(=)" "" "" "0000890780" "00024257" "30" "5668" "0" "5668" "0" "c.*2095C>T" "r.(=)" "p.(=)" "" "" "0000913940" "00024257" "30" "279" "3" "279" "3" "c.279+3G>A" "r.spl?" "p.?" "" "" "0000913941" "00024257" "50" "1488" "0" "1508" "0" "c.1488_1508dup" "r.(?)" "p.(Gln496_Gln502dup)" "" "" "0000913942" "00024257" "30" "1503" "0" "1508" "0" "c.1503_1508dup" "r.(?)" "p.(Gln501_Gln502dup)" "" "" "0000913943" "00024257" "30" "1509" "0" "1511" "0" "c.1509_1511dup" "r.(?)" "p.(His504dup)" "" "" "0000913944" "00024257" "30" "5657" "0" "5657" "0" "c.*2084T>C" "r.(=)" "p.(=)" "" "" "0000913945" "00024257" "30" "5660" "0" "5660" "0" "c.*2087C>T" "r.(=)" "p.(=)" "" "" "0000913946" "00024257" "50" "5662" "0" "5662" "0" "c.*2089G>T" "r.(=)" "p.(=)" "" "" "0000913947" "00024257" "10" "5688" "0" "5688" "0" "c.*2115C>T" "r.(=)" "p.(=)" "" "" "0000913948" "00024257" "50" "5896" "0" "5896" "0" "c.*2323C>T" "r.(=)" "p.(=)" "" "" "0000930141" "00024257" "50" "1724" "0" "1724" "0" "c.1724C>A" "r.(?)" "p.(Ser575Tyr)" "" "" "0000930142" "00024257" "30" "5603" "0" "5603" "0" "c.*2030A>G" "r.(=)" "p.(=)" "" "" "0000930143" "00024257" "30" "5656" "0" "5656" "0" "c.*2083T>C" "r.(=)" "p.(=)" "" "" "0000930144" "00024257" "30" "5674" "0" "5674" "0" "c.*2101T>C" "r.(=)" "p.(=)" "" "" "0000930145" "00024257" "30" "5689" "0" "5689" "0" "c.*2116C>T" "r.(=)" "p.(=)" "" "" "0000950026" "00024257" "70" "3166" "0" "3166" "0" "c.3166C>T" "r.(?)" "p.(His1056Tyr)" "" "" "0000950027" "00024257" "30" "5687" "0" "5687" "0" "c.*2114G>A" "r.(=)" "p.(=)" "" "" "0000959842" "00024257" "50" "1488" "0" "1508" "0" "c.1488_1508del" "r.(?)" "p.(Gln496_Gln502del)" "" "" "0000959843" "00024257" "50" "1491" "0" "1508" "0" "c.1491_1508del" "r.(?)" "p.(Gln497_Gln502del)" "" "" "0000959915" "00024257" "50" "1488" "0" "1508" "0" "c.1488_1508del" "r.(?)" "p.(Gln496_Gln502del)" "" "" "0000959916" "00024257" "50" "1491" "0" "1508" "0" "c.1491_1508del" "r.(?)" "p.(Gln497_Gln502del)" "" "" "0000967069" "00024257" "30" "1503" "0" "1508" "0" "c.1503_1508dup" "r.(?)" "p.(Gln501_Gln502dup)" "" "" "0000967072" "00024257" "50" "2475" "0" "2492" "0" "c.2475_2492del" "r.(?)" "p.(Arg829_Glu834del)" "" "" "0000980446" "00024257" "50" "1472" "0" "1473" "0" "c.1472_1473insACAGCAGCA" "r.(?)" "p.(Gln500_Gln502dup)" "" "" "0000980447" "00024257" "30" "1491" "0" "1508" "0" "c.1491_1508del" "r.(?)" "p.(Gln497_Gln502del)" "" "" "0000980448" "00024257" "50" "1503" "0" "1508" "0" "c.1503_1508del" "r.(?)" "p.(Gln501_Gln502del)" "" "" "0000980449" "00024257" "30" "1510" "0" "1512" "0" "c.1510_1512dup" "r.(?)" "p.(His504dup)" "" "" "0000980450" "00024257" "50" "2254" "0" "2254" "0" "c.2254A>C" "r.(?)" "p.(Lys752Gln)" "" "" "0000980451" "00024257" "50" "2282" "0" "2282" "0" "c.2282G>C" "r.(?)" "p.(Ser761Thr)" "" "" "0000980452" "00024257" "50" "5672" "0" "5672" "0" "c.*2099C>T" "r.(=)" "p.(=)" "" "" "0000980453" "00024257" "50" "5901" "0" "5901" "0" "c.*2328G>C" "r.(=)" "p.(=)" "" "" "0001000309" "00024257" "30" "234" "0" "234" "0" "c.234G>C" "r.(?)" "p.(Glu78Asp)" "" "" "0001000310" "00024257" "50" "325" "0" "325" "0" "c.325G>T" "r.(?)" "p.(Asp109Tyr)" "" "" "0001000311" "00024257" "30" "896" "0" "896" "0" "c.896C>T" "r.(?)" "p.(Pro299Leu)" "" "" "0001000312" "00024257" "30" "1460" "0" "1461" "0" "c.1460_1461insGC" "r.(?)" "p.(Gln488Hisfs*53)" "" "" "0001000313" "00024257" "30" "1596" "0" "1596" "0" "c.1596G>T" "r.(?)" "p.(Met532Ile)" "" "" "0001000314" "00024257" "50" "1620" "0" "1620" "0" "c.1620G>T" "r.(?)" "p.(Arg540Ser)" "" "" "0001000315" "00024257" "30" "2066" "0" "2066" "0" "c.2066C>T" "r.(?)" "p.(Ser689Leu)" "" "" "0001000316" "00024257" "30" "3442" "0" "3442" "0" "c.3442G>A" "r.(?)" "p.(Ala1148Thr)" "" "" "0001015015" "00024257" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "" "0001039438" "00024257" "30" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(=)" "" "" "0001039439" "00024257" "30" "1455" "0" "1469" "0" "c.1455_1469del" "r.(?)" "p.(Gln498_Gln502del)" "" "" "0001039440" "00024257" "30" "1488" "0" "1508" "0" "c.1488_1508dup" "r.(?)" "p.(Gln496_Gln502dup)" "" "" "0001039441" "00024257" "30" "1497" "0" "1508" "0" "c.1497_1508del" "r.(?)" "p.(Gln499_Gln502del)" "" "" "0001039442" "00024257" "30" "1500" "0" "1508" "0" "c.1500_1508dup" "r.(?)" "p.(Gln500_Gln502dup)" "" "" "0001039443" "00024257" "50" "3365" "0" "3365" "0" "c.3365C>G" "r.(?)" "p.(Pro1122Arg)" "" "" "0001039444" "00024257" "30" "5680" "0" "5680" "0" "c.*2107G>A" "r.(=)" "p.(=)" "" "" "0001039445" "00024257" "50" "5842" "0" "5842" "0" "c.*2269C>T" "r.(=)" "p.(=)" "" "" "0001046396" "00024257" "10" "5604" "0" "5604" "0" "c.*2031C>T" "r.(=)" "p.(=)" "" "" "0001046397" "00024257" "50" "5628" "0" "5628" "0" "c.*2055G>A" "r.(=)" "p.(=)" "" "" "0001046398" "00024257" "50" "5661" "0" "5661" "0" "c.*2088G>A" "r.(=)" "p.(=)" "" "" "0001046399" "00024257" "30" "5662" "0" "5662" "0" "c.*2089G>T" "r.(=)" "p.(=)" "" "" "0001046400" "00024257" "50" "5691" "0" "5691" "0" "c.*2118A>G" "r.(=)" "p.(=)" "" "" "0001054228" "00024257" "50" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.(Thr278Ala)" "" "" "0001054229" "00024257" "30" "1503" "0" "1508" "0" "c.1503_1508dup" "r.(?)" "p.(Gln501_Gln502dup)" "" "" "0001054230" "00024257" "30" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Gly695Glu)" "" "" "0001054231" "00024257" "50" "2936" "0" "2936" "0" "c.2936T>A" "r.(?)" "p.(Leu979Gln)" "" "" "0001065679" "00024257" "50" "1895" "0" "1895" "0" "c.1895C>T" "r.(?)" "p.(Ser632Phe)" "" "" "0001065680" "00024257" "30" "2294" "121" "2294" "121" "c.2294+121T>C" "r.(=)" "p.(=)" "" "" "0001065681" "00024257" "90" "5648" "0" "5655" "0" "c.*2075_*2082del" "r.(=)" "p.(=)" "" "" "0001065682" "00024257" "30" "5651" "0" "5652" "0" "c.*2078_*2079insT" "r.(=)" "p.(=)" "" "" "0001065683" "00024257" "50" "5667" "0" "5667" "0" "c.*2094C>T" "r.(=)" "p.(=)" "" "" "0001065684" "00024257" "70" "5967" "0" "5967" "0" "c.*2394G>A" "r.(=)" "p.(=)" "" "" "0001070796" "00024257" "70" "1449" "0" "1449" "0" "c.1449C>G" "r.(?)" "p.(His483Gln)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000104968" "0000170197" "0000104969" "0000170198" "0000104970" "0000170199" "0000104971" "0000170200" "0000104972" "0000170201" "0000104973" "0000170202" "0000104974" "0000170203" "0000104975" "0000170204" "0000104976" "0000170205" "0000104977" "0000170206" "0000104978" "0000170207" "0000104979" "0000170208" "0000104980" "0000170209" "0000104981" "0000170210" "0000104982" "0000170211" "0000104983" "0000170212" "0000104984" "0000170213" "0000104985" "0000170214" "0000104986" "0000170215" "0000104987" "0000170216" "0000104988" "0000170217" "0000104989" "0000170218" "0000104990" "0000170219" "0000104991" "0000170220" "0000104992" "0000170221" "0000104993" "0000170222" "0000104994" "0000170223" "0000104995" "0000170224" "0000104996" "0000170225" "0000104997" "0000170226" "0000104998" "0000170227" "0000104999" "0000170228" "0000105000" "0000170229" "0000105001" "0000170230" "0000105002" "0000170231" "0000105003" "0000170232" "0000105004" "0000170233" "0000105005" "0000170234" "0000105006" "0000170235" "0000105007" "0000170236" "0000105008" "0000170237" "0000105009" "0000170238" "0000105010" "0000170239" "0000105011" "0000170240" "0000105012" "0000170241" "0000105013" "0000170242" "0000105014" "0000170243" "0000105015" "0000170244" "0000105016" "0000170245" "0000105017" "0000170246" "0000105018" "0000170247" "0000105019" "0000170248" "0000229013" "0000593640" "0000229014" "0000593641" "0000229015" "0000593642" "0000229016" "0000593643" "0000229017" "0000593644" "0000229018" "0000593645" "0000229019" "0000593646" "0000229020" "0000593647" "0000263169" "0000593648" "0000263170" "0000593649" "0000263171" "0000593650" "0000263172" "0000593651" "0000263173" "0000593652" "0000263174" "0000593653" "0000263175" "0000593654" "0000263176" "0000593655" "0000263177" "0000593656" "0000263178" "0000593657" "0000263179" "0000593658" "0000263180" "0000593659" "0000263181" "0000593660" "0000263182" "0000593661" "0000263183" "0000593662" "0000263184" "0000593663" "0000263185" "0000593664" "0000263186" "0000593665" "0000263187" "0000593666" "0000263188" "0000593667" "0000316069" "0000698195" "0000328762" "0000712832" "0000328762" "0000712833" "0000449535" "0000959842" "0000449535" "0000959843" "0000449536" "0000959915" "0000449536" "0000959916" "0000476060" "0001070796"