### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANKRD1) # 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}}" "ANKRD1" "ankyrin repeat domain 1 (cardiac muscle)" "10" "q23.33" "unknown" "LRG_379" "UD_132085257921" "" "https://www.LOVD.nl/ANKRD1" "" "1" "15819" "27063" "609599" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/ANKRD1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-11-11 10:22:54" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002498" "ANKRD1" "ankyrin repeat domain 1 (cardiac muscle)" "001" "NM_014391.2" "" "NP_055206.2" "" "" "" "-248" "1726" "960" "92681032" "92671857" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05510" "TAPVR" "pulmonary venous return, total anomalous (TAPVR)" "" "" "" "" "" "00006" "2018-11-10 17:32:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00108632" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "M" "" "Italy" "" "0" "" "" "" "Pat854" "00128475" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "260" "00205193" "" "" "" "1" "" "00006" "{PMID:Acquati 2000:11102937}" "" "-" "" "Italy" "" "0" "" "" "" "" "00205195" "" "" "" "2" "" "00006" "{PMID:Acquati 2000:11102937}" "2-generation family, 2 affected sisters, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "11102937-FamPatTAPVR-007" "00205196" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "" "-" "" "" "" "0" "" "" "white" "" "00205197" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "3-generation family, affected father and unaffected carrier daugther (27y, ECG normal)" "-" "" "" "" "0" "" "" "white" "" "00205198" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "2-generation family, 1 affected, 4 sudden deaths" "M" "" "" "" "0" "" "" "white" "" "00205199" "" "" "" "2" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "3-generation family, affected father and son" "M" "" "" "" "0" "" "" "white" "" "00205200" "" "" "" "1" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "2-generation family, 1 affected, sudden death brother/mother" "-" "" "" "" "0" "" "" "white" "" "00205201" "" "" "" "2" "" "00006" "{PMID:Duboscq-Bidot 2009:19525294}" "3-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "white" "" "00205202" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "-" "" "United States" "" "0" "" "" "" "" "00205203" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "3-generation family, 1 affected, sudden death father" "F" "" "Japan" "" "0" "" "" "" "" "00205204" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "-" "" "United States" "" "0" "" "" "" "" "00205205" "" "" "" "2" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205206" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205207" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205208" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205209" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205210" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205211" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205212" "" "" "" "1" "" "00006" "{PMID:Arimura 2009:19608031}" "" "" "" "" "" "0" "" "" "" "" "00205213" "" "" "" "2" "" "00006" "{PMID:Moulik 2009:19608030}" "4-generation family, 2 affecteds" "M" "" "United Kingdom (Great Britain)" ">15y" "0" "" "" "white" "" "00205214" "" "" "" "1" "" "00006" "{PMID:Moulik 2009:19608030}" "4-generation family, 1 affected" "M" "" "United Kingdom (Great Britain)" ">52y" "0" "" "" "white" "" "00205215" "" "" "" "1" "" "00006" "{PMID:Moulik 2009:19608030}" "" "M" "" "United Kingdom (Great Britain)" ">68y" "0" "" "" "white" "" "00205216" "" "" "" "2" "" "00006" "{PMID:Moulik 2009:19608030}" "3-generation family, 2 affecteds" "M" "" "United Kingdom (Great Britain)" ">33y" "0" "" "" "white" "" "00205217" "" "" "" "2" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205218" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205219" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205220" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205221" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205222" "" "" "" "35" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205223" "" "" "" "70" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "" "" "00205224" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "M" "" "" ">65y" "0" "" "" "" "" "00205225" "" "" "" "1" "" "00006" "{PMID:Meyer 2013:22892539}" "" "-" "" "" "" "0" "" "" "white" "" "00290174" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316219" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316220" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316221" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316222" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00453163" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam47Pat85" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00108632" "00351" "00128475" "00198" "00205193" "05510" "00205195" "05510" "00205196" "00352" "00205197" "00352" "00205198" "00352" "00205199" "00352" "00205200" "00352" "00205201" "00352" "00205202" "00351" "00205203" "00351" "00205204" "00351" "00205205" "00351" "00205206" "00351" "00205207" "00351" "00205208" "00351" "00205209" "00351" "00205210" "00351" "00205211" "00351" "00205212" "00351" "00205213" "00352" "00205214" "00352" "00205215" "00352" "00205216" "00352" "00205217" "00352" "00205218" "00352" "00205219" "00352" "00205220" "00352" "00205221" "00352" "00205222" "00352" "00205223" "00352" "00205224" "00352" "00205225" "00352" "00290174" "00198" "00316219" "04172" "00316220" "04172" "00316221" "04172" "00316222" "04172" "00453163" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 04172, 05510 ## Count = 39 "{{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}}" "0000086106" "00351" "00108632" "01401" "Familial" "" "fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 19; left ventricular ejection fraction 0.60" "46y" "" "" "" "" "" "" "" "" "" "" "0000100697" "00198" "00128475" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000153384" "05510" "00205193" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "total anomalous pulmonary venous return" "" "0000153386" "05510" "00205195" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "total anomalous pulmonary venous return" "" "0000153387" "00352" "00205196" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153388" "00352" "00205197" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153389" "00352" "00205198" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153390" "00352" "00205199" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153391" "00352" "00205200" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153392" "00352" "00205201" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153393" "00351" "00205202" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153394" "00351" "00205203" "00006" "Isolated (sporadic)" "" "mild cardiac hypertrophy" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153395" "00351" "00205204" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153396" "00351" "00205205" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153397" "00351" "00205206" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153398" "00351" "00205207" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153399" "00351" "00205208" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153400" "00351" "00205209" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153401" "00351" "00205210" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153402" "00351" "00205211" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153403" "00351" "00205212" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000153404" "00352" "00205213" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153405" "00352" "00205214" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153406" "00352" "00205215" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153407" "00352" "00205216" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153408" "00352" "00205217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153409" "00352" "00205218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153410" "00352" "00205219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153411" "00352" "00205220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153412" "00352" "00205221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153413" "00352" "00205222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153414" "00352" "00205223" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153415" "00352" "00205224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000153416" "00352" "00205225" "00006" "-" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000239965" "04172" "00316219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239966" "04172" "00316220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239967" "04172" "00316221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239968" "04172" "00316222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000341809" "04172" "00453163" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000109097" "00108632" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000129313" "00128475" "1" "02244" "02244" "2017-09-15 18:31:35" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000206222" "00205193" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206224" "00205195" "1" "00006" "00006" "2013-04-17 10:20:00" "00006" "2018-11-10 20:50:22" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000206225" "00205196" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206226" "00205197" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206227" "00205198" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206228" "00205199" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206229" "00205200" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206230" "00205201" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206231" "00205202" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206232" "00205203" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206233" "00205204" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206234" "00205205" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206235" "00205206" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206236" "00205207" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206237" "00205208" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206238" "00205209" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206239" "00205210" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206240" "00205211" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206241" "00205212" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206242" "00205213" "1" "00006" "00006" "2013-04-17 10:20:00" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206243" "00205214" "1" "00006" "00006" "2013-04-17 10:20:00" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206244" "00205215" "1" "00006" "00006" "2013-04-17 10:20:00" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206245" "00205216" "1" "00006" "00006" "2013-04-17 10:20:00" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206246" "00205217" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206247" "00205218" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206248" "00205219" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206249" "00205220" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206250" "00205221" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206251" "00205222" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206252" "00205223" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206253" "00205224" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000206254" "00205225" "1" "00006" "00006" "2013-04-17 10:20:00" "" "" "SEQ" "DNA" "" "" "0000291342" "00290174" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317401" "00316219" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317402" "00316220" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317403" "00316221" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317404" "00316222" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000454774" "00453163" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000206222" "ANKRD1" "0000206224" "ANKRD1" "0000206225" "ANKRD1" "0000206226" "ANKRD1" "0000206227" "ANKRD1" "0000206228" "ANKRD1" "0000206229" "ANKRD1" "0000206230" "ANKRD1" "0000206231" "ANKRD1" "0000206232" "ANKRD1" "0000206233" "ANKRD1" "0000206234" "ANKRD1" "0000206235" "ANKRD1" "0000206236" "ANKRD1" "0000206237" "ANKRD1" "0000206238" "ANKRD1" "0000206239" "ANKRD1" "0000206240" "ANKRD1" "0000206241" "ANKRD1" "0000206242" "ANKRD1" "0000206243" "ANKRD1" "0000206244" "ANKRD1" "0000206245" "ANKRD1" "0000206246" "ANKRD1" "0000206247" "ANKRD1" "0000206248" "ANKRD1" "0000206249" "ANKRD1" "0000206250" "ANKRD1" "0000206251" "ANKRD1" "0000206252" "ANKRD1" "0000206253" "ANKRD1" "0000206254" "ANKRD1" "0000317401" "ANKRD1" "0000317402" "ANKRD1" "0000317403" "ANKRD1" "0000317404" "ANKRD1" ## 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 = 269 "{{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}}" "0000175200" "1" "70" "10" "92675322" "92675322" "subst" "0.00273769" "01401" "ANKRD1_000010" "g.92675322G>A" "reads 0.51" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.90915565G>A" "" "likely pathogenic" "" "0000218480" "0" "50" "10" "92679936" "92679936" "subst" "0.000926656" "02244" "ANKRD1_000008" "g.92679936C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.90920179C>T" "" "VUS" "" "0000246933" "0" "10" "10" "92675401" "92675401" "subst" "8.14359E-6" "02330" "ANKRD1_000056" "g.92675401A>G" "" "" "" "ANKRD1(NM_014391.3):c.751-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915644A>G" "" "benign" "" "0000246934" "0" "10" "10" "92675645" "92675645" "subst" "1.69039E-5" "02330" "ANKRD1_000079" "g.92675645A>G" "" "" "" "ANKRD1(NM_014391.3):c.652-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915888A>G" "" "benign" "" "0000246935" "0" "10" "10" "92675653" "92675653" "del" "0" "02330" "ANKRD1_000018" "g.92675653del" "" "" "" "ANKRD1(NM_014391.3):c.652-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915896del" "" "benign" "" "0000246936" "0" "10" "10" "92678748" "92678748" "subst" "0" "02330" "ANKRD1_000040" "g.92678748A>T" "" "" "" "ANKRD1(NM_014391.2):c.346-21_346-19delATTinsATA, ANKRD1(NM_014391.3):c.346-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918991A>T" "" "benign" "" "0000246937" "0" "10" "10" "92678879" "92678879" "del" "0" "02330" "ANKRD1_000042" "g.92678879del" "" "" "" "ANKRD1(NM_014391.3):c.345+17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919122del" "" "benign" "" "0000246938" "0" "10" "10" "92680108" "92680108" "subst" "1.62991E-5" "02330" "ANKRD1_000052" "g.92680108A>G" "" "" "" "ANKRD1(NM_014391.3):c.28-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920351A>G" "" "benign" "" "0000246939" "0" "10" "10" "92680743" "92680743" "subst" "0" "02330" "ANKRD1_000053" "g.92680743A>G" "" "" "" "ANKRD1(NM_014391.3):c.27+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920986A>G" "" "benign" "" "0000246958" "0" "50" "10" "92677560" "92677560" "subst" "0" "02330" "ANKRD1_000086" "g.92677560A>G" "" "" "" "ANKRD1(NM_014391.3):c.481T>C (p.C161R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90917803A>G" "" "VUS" "" "0000246968" "0" "50" "10" "92675633" "92675633" "subst" "0" "02330" "ANKRD1_000078" "g.92675633A>T" "" "" "" "ANKRD1(NM_014391.3):c.656T>A (p.L219H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915876A>T" "" "VUS" "" "0000246969" "0" "30" "10" "92675331" "92675331" "subst" "7.72848E-5" "02330" "ANKRD1_000055" "g.92675331A>G" "" "" "" "ANKRD1(NM_014391.3):c.818T>C (p.M273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915574A>G" "" "likely benign" "" "0000249384" "0" "30" "10" "92678634" "92678634" "subst" "6.52523E-5" "02325" "ANKRD1_000089" "g.92678634A>G" "" "" "" "ANKRD1(NM_014391.3):c.441T>C (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918877A>G" "" "likely benign" "" "0000252195" "0" "30" "10" "92678741" "92678741" "del" "0" "02326" "ANKRD1_000028" "g.92678741del" "" "" "" "ANKRD1(NM_014391.2):c.346-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918984del" "" "likely benign" "" "0000253842" "0" "10" "10" "92678871" "92678871" "subst" "0" "01943" "ANKRD1_000043" "g.92678871A>G" "" "" "" "ANKRD1(NM_014391.2):c.345+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919114A>G" "" "benign" "" "0000257830" "0" "10" "10" "92680801" "92680801" "subst" "0.00177848" "02330" "ANKRD1_000054" "g.92680801T>C" "" "" "" "ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90921044T>C" "" "benign" "" "0000257831" "0" "10" "10" "92679985" "92679985" "subst" "0.0008575" "02330" "ANKRD1_000050" "g.92679985C>G" "" "" "" "ANKRD1(NM_014391.3):c.148G>C (p.A50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920228C>G" "" "benign" "" "0000257832" "0" "10" "10" "92679983" "92679983" "subst" "0.00148743" "02330" "ANKRD1_000049" "g.92679983G>C" "" "" "" "ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920226G>C" "" "benign" "" "0000257833" "0" "10" "10" "92679040" "92679040" "subst" "0.000407778" "02330" "ANKRD1_000048" "g.92679040C>T" "" "" "" "ANKRD1(NM_014391.2):c.208-15G>A, ANKRD1(NM_014391.3):c.208-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919283C>T" "" "benign" "" "0000257834" "0" "10" "10" "92679041" "92679041" "subst" "0.00506635" "02330" "ANKRD1_000015" "g.92679041G>A" "" "" "" "ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919284G>A" "" "benign" "" "0000257835" "0" "30" "10" "92678977" "92678977" "subst" "0.00032676" "02330" "ANKRD1_000046" "g.92678977C>G" "" "" "" "ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919220C>G" "" "likely benign" "" "0000257836" "0" "50" "10" "92680106" "92680106" "subst" "4.07501E-6" "02330" "ANKRD1_000051" "g.92680106C>T" "" "" "" "ANKRD1(NM_014391.3):c.28-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920349C>T" "" "VUS" "" "0000257840" "0" "10" "10" "92678743" "92678744" "ins" "0" "02330" "ANKRD1_000070" "g.92678743_92678744insT" "" "" "" "ANKRD1(NM_014391.2):c.346-15_346-14insA, ANKRD1(NM_014391.3):c.346-15_346-14insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918986_90918987insT" "" "benign" "" "0000257844" "0" "10" "10" "92678744" "92678751" "del" "0" "02330" "ANKRD1_000062" "g.92678744_92678751del" "" "" "" "ANKRD1(NM_014391.2):c.346-17_346-10delATTTATTT, ANKRD1(NM_014391.3):c.346-17_346-10delATTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918994del" "" "benign" "" "0000257845" "0" "10" "10" "92678744" "92678749" "del" "0.0521486" "02330" "ANKRD1_000074" "g.92678744_92678749del" "" "" "" "ANKRD1(NM_014391.2):c.346-19_346-14delTTATTT, ANKRD1(NM_014391.3):c.346-19_346-14delTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918992del" "" "benign" "" "0000257846" "0" "10" "10" "92678744" "92678745" "del" "0.00379507" "02330" "ANKRD1_000029" "g.92678744_92678745del" "" "" "" "ANKRD1(NM_014391.2):c.346-15_346-14delTT, ANKRD1(NM_014391.2):c.346-19_346-14delTTATTTinsTTAT, ANKRD1(NM_014391.2):c.346-19_346-15delTTATTinsTTA, A..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918988del" "" "benign" "" "0000257847" "0" "10" "10" "92678748" "92678749" "del" "0" "02330" "ANKRD1_000035" "g.92678748_92678749del" "" "" "" "ANKRD1(NM_014391.3):c.346-19_346-18delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918991_90918992del" "" "benign" "" "0000257852" "0" "10" "10" "92678772" "92678773" "del" "0" "02330" "ANKRD1_000016" "g.92678772_92678773del" "" "" "" "ANKRD1(NM_014391.3):c.346-21_346-20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919015_90919016del" "" "benign" "" "0000257854" "0" "10" "10" "92678744" "92678759" "del" "0" "02330" "ANKRD1_000065" "g.92678744_92678759del" "" "" "" "ANKRD1(NM_014391.3):c.346-27_346-12delATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919002del" "" "benign" "" "0000257855" "0" "10" "10" "92678744" "92678755" "del" "0.00099708" "02330" "ANKRD1_000030" "g.92678744_92678755del" "" "" "" "ANKRD1(NM_014391.3):c.346-23_346-12delATATTTATTTAT, ANKRD1(NM_014391.3):c.346-27_346-12delATATATATTTATTTATinsATAT, ANKRD1(NM_014391.3):c.346-29_346..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918998del" "" "benign" "" "0000257857" "0" "10" "10" "92678744" "92678763" "del" "0.000935061" "02330" "ANKRD1_000067" "g.92678744_92678763del" "" "" "" "ANKRD1(NM_014391.3):c.346-31_346-12delATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919006del" "" "benign" "" "0000257858" "0" "10" "10" "92678744" "92678761" "del" "0.561266" "02330" "ANKRD1_000031" "g.92678744_92678761del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTATinsATATAT, ANKRD1(NM_014391.2):c.346-35_346-15delATATATATATATATATTTATTinsATA, ANKRD1..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919004del" "" "benign" "" "0000257859" "0" "10" "10" "92678727" "92678727" "subst" "0.0145129" "02330" "ANKRD1_001060" "g.92678727C>T" "" "" "" "ANKRD1(NM_014391.2):c.348G>A (p.(=)), ANKRD1(NM_014391.3):c.348G>A (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918970C>T" "" "benign" "" "0000257860" "0" "10" "10" "92678706" "92678706" "subst" "0.000339927" "02330" "ANKRD1_000091" "g.92678706C>T" "" "" "" "ANKRD1(NM_014391.2):c.369G>A (p.T123=), ANKRD1(NM_014391.3):c.369G>A (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918949C>T" "" "benign" "" "0000257862" "0" "50" "10" "92675930" "92675930" "subst" "4.0625E-6" "02330" "ANKRD1_000082" "g.92675930T>C" "" "" "" "ANKRD1(NM_014391.3):c.649A>G (p.K217E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916173T>C" "" "VUS" "" "0000257863" "0" "10" "10" "92675647" "92675647" "subst" "0.000216778" "02330" "ANKRD1_000080" "g.92675647T>A" "" "" "" "ANKRD1(NM_014391.2):c.652-10A>T, ANKRD1(NM_014391.3):c.652-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915890T>A" "" "benign" "" "0000257864" "0" "50" "10" "92675579" "92675579" "subst" "1.62741E-5" "02330" "ANKRD1_000060" "g.92675579T>C" "" "" "" "ANKRD1(NM_014391.3):c.710A>G (p.H237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915822T>C" "" "VUS" "" "0000257865" "0" "30" "10" "92675575" "92675579" "del" "0" "02330" "ANKRD1_000059" "g.92675575_92675579del" "" "" "" "ANKRD1(NM_014391.3):c.713_717delTTATC (p.L238Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915818_90915822del" "" "likely benign" "" "0000257866" "0" "10" "10" "92675322" "92675322" "subst" "0.00273769" "02330" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915565G>A" "" "benign" "" "0000257867" "0" "50" "10" "92672661" "92672664" "del" "0" "02330" "ANKRD1_000026" "g.92672661_92672664del" "" "" "" "ANKRD1(NM_014391.3):c.922_925delGAGA (p.E308Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90912904_90912907del" "" "VUS" "" "0000258751" "0" "10" "10" "92679985" "92679985" "subst" "0.0008575" "02325" "ANKRD1_000050" "g.92679985C>G" "" "" "" "ANKRD1(NM_014391.3):c.148G>C (p.A50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920228C>G" "" "benign" "" "0000258752" "0" "10" "10" "92678744" "92678751" "del" "0" "02325" "ANKRD1_000062" "g.92678744_92678751del" "" "" "" "ANKRD1(NM_014391.2):c.346-17_346-10delATTTATTT, ANKRD1(NM_014391.3):c.346-17_346-10delATTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918994del" "" "benign" "" "0000258754" "0" "10" "10" "92675322" "92675322" "subst" "0.00273769" "02325" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915565G>A" "" "benign" "" "0000259084" "0" "10" "10" "92678744" "92678761" "del" "0.561266" "02325" "ANKRD1_000031" "g.92678744_92678761del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTATinsATATAT, ANKRD1(NM_014391.2):c.346-35_346-15delATATATATATATATATTTATTinsATA, ANKRD1..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919004del" "" "benign" "" "0000259318" "0" "30" "10" "92680801" "92680801" "subst" "0.00177848" "02325" "ANKRD1_000054" "g.92680801T>C" "" "" "" "ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90921044T>C" "" "likely benign" "" "0000259319" "0" "30" "10" "92679983" "92679983" "subst" "0.00148743" "02325" "ANKRD1_000049" "g.92679983G>C" "" "" "" "ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920226G>C" "" "likely benign" "" "0000259320" "0" "30" "10" "92679041" "92679041" "subst" "0.00506635" "02325" "ANKRD1_000015" "g.92679041G>A" "" "" "" "ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919284G>A" "" "likely benign" "" "0000259321" "0" "30" "10" "92678748" "92678749" "del" "0" "02325" "ANKRD1_000035" "g.92678748_92678749del" "" "" "" "ANKRD1(NM_014391.3):c.346-19_346-18delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918991_90918992del" "" "likely benign" "" "0000259322" "0" "30" "10" "92675647" "92675647" "subst" "0.000216778" "02325" "ANKRD1_000080" "g.92675647T>A" "" "" "" "ANKRD1(NM_014391.2):c.652-10A>T, ANKRD1(NM_014391.3):c.652-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915890T>A" "" "likely benign" "" "0000259478" "0" "30" "10" "92678746" "92678746" "del" "0" "02325" "ANKRD1_000033" "g.92678746del" "" "" "" "ANKRD1(NM_014391.3):c.346-17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918989del" "" "likely benign" "" "0000259480" "0" "30" "10" "92678748" "92678751" "del" "0" "02325" "ANKRD1_000041" "g.92678748_92678751del" "" "" "" "ANKRD1(NM_014391.3):c.346-13_346-10delATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918991_90918994del" "" "likely benign" "" "0000259481" "0" "30" "10" "92678745" "92678759" "del" "0" "02325" "ANKRD1_000032" "g.92678745_92678759del" "" "" "" "ANKRD1(NM_014391.3):c.346-29_346-15delATATATATATTTATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918988_90919002del" "" "likely benign" "" "0000259482" "0" "30" "10" "92678744" "92678765" "del" "0" "02325" "ANKRD1_000075" "g.92678744_92678765del" "" "" "" "ANKRD1(NM_014391.2):c.346-33_346-12delATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-33_346-12delATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919008del" "" "likely benign" "" "0000259483" "0" "30" "10" "92678744" "92678767" "del" "0" "02325" "ANKRD1_000031" "g.92678744_92678767del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919010del" "" "likely benign" "" "0000259484" "0" "30" "10" "92675522" "92675522" "subst" "0.000105764" "02325" "ANKRD1_000058" "g.92675522C>T" "" "" "" "ANKRD1(NM_014391.2):c.750+17G>A, ANKRD1(NM_014391.3):c.750+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915765C>T" "" "likely benign" "" "0000259485" "0" "30" "10" "92675402" "92675402" "subst" "7.73729E-5" "02325" "ANKRD1_000057" "g.92675402G>T" "" "" "" "ANKRD1(NM_014391.3):c.751-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915645G>T" "" "likely benign" "" "0000259599" "0" "50" "10" "92675579" "92675579" "subst" "1.62741E-5" "02325" "ANKRD1_000060" "g.92675579T>C" "" "" "" "ANKRD1(NM_014391.3):c.710A>G (p.H237R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915822T>C" "" "VUS" "" "0000259647" "0" "50" "10" "92679016" "92679016" "dup" "0" "02325" "ANKRD1_000047" "g.92679016dup" "" "" "" "ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919259dup" "" "VUS" "" "0000259649" "0" "50" "10" "92678944" "92678944" "dup" "0" "02325" "ANKRD1_000045" "g.92678944dup" "" "" "" "ANKRD1(NM_014391.3):c.288delGinsGA (p.Y99Ifs*5), ANKRD1(NM_014391.3):c.294dupA (p.Y99Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919187dup" "" "VUS" "" "0000259651" "0" "50" "10" "92678724" "92678724" "subst" "0" "02325" "ANKRD1_000092" "g.92678724T>A" "" "" "" "ANKRD1(NM_014391.3):c.351A>T (p.E117D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918967T>A" "" "VUS" "" "0000259652" "0" "50" "10" "92677580" "92677580" "subst" "4.07242E-6" "02325" "ANKRD1_000088" "g.92677580C>T" "" "" "" "ANKRD1(NM_014391.3):c.461G>A (p.R154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90917823C>T" "" "VUS" "" "0000259653" "0" "50" "10" "92677575" "92677575" "subst" "4.07159E-6" "02325" "ANKRD1_000087" "g.92677575C>T" "" "" "" "ANKRD1(NM_014391.3):c.466G>A (p.A156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90917818C>T" "" "VUS" "" "0000259654" "0" "50" "10" "92675979" "92675980" "del" "0" "02325" "ANKRD1_000084" "g.92675979_92675980del" "" "" "" "ANKRD1(NM_014391.3):c.599_600delAT (p.D200Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916222_90916223del" "" "VUS" "" "0000259655" "0" "50" "10" "92675938" "92675938" "del" "0" "02325" "ANKRD1_000083" "g.92675938del" "" "" "" "ANKRD1(NM_014391.3):c.643delC (p.R215Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916181del" "" "VUS" "" "0000259656" "0" "50" "10" "92675927" "92675927" "subst" "4.06296E-6" "02325" "ANKRD1_000081" "g.92675927C>T" "" "" "" "ANKRD1(NM_014391.3):c.651+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916170C>T" "" "VUS" "" "0000259657" "0" "50" "10" "92675599" "92675599" "del" "0" "02325" "ANKRD1_000077" "g.92675599del" "" "" "" "ANKRD1(NM_014391.3):c.691delC (p.H231Tfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915842del" "" "VUS" "" "0000260971" "0" "30" "10" "92678740" "92678745" "del" "1.04429E-5" "02326" "ANKRD1_000061" "g.92678740_92678745del" "" "" "" "ANKRD1(NM_014391.2):c.346-14_346-9delTATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918983_90918988del" "" "likely benign" "" "0000260975" "0" "10" "10" "92678744" "92678751" "del" "0" "02326" "ANKRD1_000062" "g.92678744_92678751del" "" "" "" "ANKRD1(NM_014391.2):c.346-17_346-10delATTTATTT, ANKRD1(NM_014391.3):c.346-17_346-10delATTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918994del" "" "benign" "" "0000260976" "0" "10" "10" "92678744" "92678749" "del" "0.0521486" "02326" "ANKRD1_000074" "g.92678744_92678749del" "" "" "" "ANKRD1(NM_014391.2):c.346-19_346-14delTTATTT, ANKRD1(NM_014391.3):c.346-19_346-14delTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918992del" "" "benign" "" "0000260977" "0" "30" "10" "92678744" "92678745" "del" "0.00379507" "02326" "ANKRD1_000029" "g.92678744_92678745del" "" "" "" "ANKRD1(NM_014391.2):c.346-15_346-14delTT, ANKRD1(NM_014391.2):c.346-19_346-14delTTATTTinsTTAT, ANKRD1(NM_014391.2):c.346-19_346-15delTTATTinsTTA, A..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918988del" "" "likely benign" "" "0000260979" "0" "30" "10" "92678744" "92678761" "del" "0.561266" "02326" "ANKRD1_000031" "g.92678744_92678761del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTATinsATATAT, ANKRD1(NM_014391.2):c.346-35_346-15delATATATATATATATATTTATTinsATA, ANKRD1..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90919004del" "" "likely benign" "" "0000260980" "0" "70" "10" "92678649" "92678649" "subst" "0" "02326" "ANKRD1_000090" "g.92678649G>T" "" "" "" "ANKRD1(NM_014391.2):c.426C>A (p.D142E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918892G>T" "" "likely pathogenic" "" "0000260981" "0" "50" "10" "92675592" "92675592" "subst" "0" "02326" "ANKRD1_000076" "g.92675592C>T" "" "" "" "ANKRD1(NM_014391.2):c.697G>A (p.E233K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915835C>T" "" "VUS" "" "0000260982" "0" "30" "10" "92675322" "92675322" "subst" "0.00273769" "02326" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915565G>A" "" "likely benign" "" "0000260983" "0" "50" "10" "92675296" "92675296" "subst" "0" "02326" "ANKRD1_000027" "g.92675296T>C" "" "" "" "ANKRD1(NM_014391.2):c.849+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915539T>C" "" "VUS" "" "0000262485" "0" "10" "10" "92680801" "92680801" "subst" "0.00177848" "01943" "ANKRD1_000054" "g.92680801T>C" "" "" "" "ANKRD1(NM_014391.2):c.-17A>G, ANKRD1(NM_014391.3):c.-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90921044T>C" "" "benign" "" "0000262486" "0" "90" "10" "92679958" "92679958" "subst" "0" "01943" "ANKRD1_000014" "g.92679958G>A" "" "" "" "ANKRD1(NM_014391.2):c.175C>T (p.Q59*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90920201G>A" "" "pathogenic" "" "0000262487" "0" "10" "10" "92679041" "92679041" "subst" "0.00506635" "01943" "ANKRD1_000015" "g.92679041G>A" "" "" "" "ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90919284G>A" "" "benign" "" "0000262488" "0" "10" "10" "92678744" "92678751" "del" "0" "01943" "ANKRD1_000062" "g.92678744_92678751del" "" "" "" "ANKRD1(NM_014391.2):c.346-17_346-10delATTTATTT, ANKRD1(NM_014391.3):c.346-17_346-10delATTTATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90918987_90918994del" "" "benign" "" "0000262489" "0" "30" "10" "92675647" "92675647" "subst" "0.000216778" "01943" "ANKRD1_000080" "g.92675647T>A" "" "" "" "ANKRD1(NM_014391.2):c.652-10A>T, ANKRD1(NM_014391.3):c.652-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915890T>A" "" "likely benign" "" "0000262490" "0" "30" "10" "92675322" "92675322" "subst" "0.00273769" "01943" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90915565G>A" "" "likely benign" "" "0000435638" "1" "70" "10" "92678728" "92678728" "subst" "0.0001493" "00006" "ANKRD1_000005" "g.92678728G>A" "" "{PMID:Cinquetti 2008:18273862}" "" "" "not in 230 control chromosomes" "Unknown" "" "" "0" "" "" "g.90918971G>A" "" "likely pathogenic" "" "0000435640" "0" "70" "10" "0" "0" "" "0" "00006" "ANKRD1_000000" "g.92812903_qterdelins[NC_000021.8:16656990_qter]" "1/6 cases" "{PMID:Cinquetti 2008:18273862}" "" "" "5-fold increased RNA-expression (not of RPP30/PCGF5), unknown variant" "De novo" "" "" "0" "" "t(10;21)(q23.31;q11.2)" "" "" "likely pathogenic" "" "0000435641" "21" "30" "10" "92681483" "92681485" "del" "0" "00006" "ANKRD1_000002" "g.92681483_92681485del" "" "{PMID:Cinquetti 2008:18273862}" "" "" "" "Germline" "" "" "0" "" "" "g.90921726_90921728del" "" "likely benign" "" "0000435642" "21" "30" "10" "92681954" "92681954" "subst" "0" "00006" "ANKRD1_000003" "g.92681954A>G" "" "{PMID:Cinquetti 2008:18273862}" "" "" "" "Germline" "" "" "0" "" "" "g.90922197A>G" "" "likely benign" "" "0000435643" "21" "30" "10" "92682060" "92682060" "subst" "0" "00006" "ANKRD1_000004" "g.92682060C>A" "" "{PMID:Cinquetti 2008:18273862}" "" "" "" "Germline" "" "" "0" "" "" "g.90922303C>A" "" "likely benign" "" "0000435644" "21" "30" "10" "92680929" "92680929" "subst" "0" "00006" "ANKRD1_000001" "g.92680929A>G" "" "{PMID:Cinquetti 2008:18273862}" "" "" "" "Germline" "" "rs10881855" "0" "" "" "g.90921172A>G" "" "likely benign" "" "0000435645" "0" "10" "10" "92680863" "92680863" "subst" "0" "00006" "ANKRD1_000006" "g.92680863G>A" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "170C>T" "" "Germline" "" "" "0" "" "" "g.90921106G>A" "" "benign" "" "0000435646" "1" "90" "10" "92679964" "92679964" "subst" "0" "00006" "ANKRD1_000007" "g.92679964C>G" "1/73 cases, sporadic" "{PMID:Duboscq-Bidot 2009:19525294}" "" "417G>C" "not in 800 control chromosomes" "Germline" "yes" "" "0" "" "" "g.90920207C>G" "" "pathogenic" "" "0000435647" "1" "70" "10" "92679936" "92679936" "subst" "0.000926656" "00006" "ANKRD1_000008" "g.92679936C>T" "1/73 cases, sporadic" "{PMID:Duboscq-Bidot 2009:19525294}" "" "445G>A" "not in 800 control chromosomes" "Germline" "" "rs150797476" "0" "" "" "g.90920179C>T" "" "likely pathogenic" "" "0000435648" "1" "70" "10" "92678728" "92678728" "subst" "0.0001493" "00006" "ANKRD1_000005" "g.92678728G>A" "1/158 cases, familial" "{PMID:Duboscq-Bidot 2009:19525294}" "" "595C>A" "not in 800 control chromosomes" "Germline" "yes" "" "0" "" "" "g.90918971G>A" "" "likely pathogenic" "" "0000435649" "1" "90" "10" "92675983" "92675983" "subst" "0" "00006" "ANKRD1_000009" "g.92675983A>C" "1/73 cases, sporadic" "{PMID:Duboscq-Bidot 2009:19525294}" "" "844T>G" "not in 800 control chromosomes" "Germline" "" "" "0" "" "" "g.90916226A>C" "" "pathogenic" "" "0000435650" "1" "70" "10" "92675322" "92675322" "subst" "0.00273769" "00006" "ANKRD1_000010" "g.92675322G>A" "1/158 cases, familial" "{PMID:Duboscq-Bidot 2009:19525294}" "" "1075C>T" "not in 800 control chromosomes, once in dbSNP" "Germline" "yes" "rs35550482" "0" "" "" "g.90915565G>A" "" "likely pathogenic" "" "0000435651" "1" "90" "10" "92679979" "92679979" "subst" "7.72151E-5" "00006" "ANKRD1_000011" "g.92679979G>C" "1/384 cases" "{PMID:Arimura 2009:19608031}" "" "402C>G" "not 600 control chromosomes" "Unknown" "" "" "0" "" "" "g.90920222G>C" "" "pathogenic" "" "0000435652" "1" "90" "10" "92678707" "92678707" "subst" "0.000292378" "00006" "ANKRD1_000012" "g.92678707G>A" "1/384 cases" "{PMID:Arimura 2009:19608031}" "" "616C>T" "not 800 control chromosomes" "Unknown" "" "" "0" "" "" "g.90918950G>A" "" "pathogenic" "" "0000435653" "1" "90" "10" "92675311" "92675311" "subst" "3.25433E-5" "00006" "ANKRD1_000013" "g.92675311T>C" "1/384 cases" "{PMID:Arimura 2009:19608031}" "" "1086A>G" "not 600 control chromosomes" "Unknown" "" "rs144770680" "0" "" "" "g.90915554T>C" "" "pathogenic" "" "0000435654" "0" "30" "10" "92679958" "92679958" "subst" "0" "00006" "ANKRD1_000014" "g.92679958G>A" "2/384 cases" "{PMID:Arimura 2009:19608031}" "" "423C>T (Gln59Ter)" "not 600-800 control chromosomes" "Unknown" "no" "" "0" "" "" "g.90920201G>A" "" "likely benign" "" "0000435655" "0" "10" "10" "92679935" "92679935" "" "0" "00006" "ANKRD1_000000" "g.92679935T>V^92679937G>T" "" "{PMID:Arimura 2009:19608031}" "" "Arg66Arg" "found in control chromosomes (600-800)" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000435656" "0" "10" "10" "92679041" "92679041" "subst" "0.00506635" "00006" "ANKRD1_000015" "g.92679041G>A" "" "{PMID:Arimura 2009:19608031}" "" "IVS2-16C>T" "found in control chromosomes (600-800)" "Unknown" "" "" "0" "" "" "g.90919284G>A" "" "benign" "" "0000435657" "0" "10" "10" "92678772" "92678773" "del" "0" "00006" "ANKRD1_000016" "g.92678772_92678773del" "" "{PMID:Arimura 2009:19608031}" "" "IVS3-20TAdel" "found in control chromosomes (600-800)" "Unknown" "" "" "0" "" "" "g.90919015_90919016del" "" "benign" "" "0000435658" "0" "10" "10" "92678727" "92678727" "" "0" "00006" "ANKRD1_000017" "g.92678727C>D" "" "{PMID:Arimura 2009:19608031}" "" "Thr116Thr" "found in control chromosomes (600-800)" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000435659" "0" "10" "10" "92675653" "92675653" "del" "0" "00006" "ANKRD1_000018" "g.92675653del" "" "{PMID:Arimura 2009:19608031}" "" "IVS6-13Tdel" "found in control chromosomes (600-800)" "Unknown" "" "rs3839929" "0" "" "" "g.90915896del" "" "benign" "" "0000435660" "0" "10" "10" "92675322" "92675322" "subst" "0.00273769" "00006" "ANKRD1_000010" "g.92675322G>A" "" "{PMID:Arimura 2009:19608031}" "" "Ala276Val" "found in control chromosomes (600-800)" "Unknown" "" "rs35550482" "0" "" "" "g.90915565G>A" "" "benign" "" "0000435661" "0" "10" "10" "92675294" "92675294" "subst" "0" "00006" "ANKRD1_000019" "g.92675294A>C" "" "{PMID:Arimura 2009:19608031}" "" "IVS8+6T>G" "found in control chromosomes (600-800)" "Unknown" "" "" "0" "" "" "g.90915537A>C" "" "benign" "" "0000435662" "1" "90" "10" "92678920" "92678920" "subst" "0.000159049" "00006" "ANKRD1_000020" "g.92678920G>A" "1/208 cases" "{PMID:Moulik 2009:19608030}" "" "" "not in 360 control chromosomes" "Germline" "yes" "rs148189486" "0" "" "" "g.90919163G>A" "" "pathogenic" "" "0000435663" "1" "90" "10" "92678920" "92678920" "subst" "0.000159049" "00006" "ANKRD1_000020" "g.92678920G>A" "1/208 cases" "{PMID:Moulik 2009:19608030}" "" "" "not in 360 control chromosomes" "Germline" "no" "rs148189486" "0" "" "" "g.90919163G>A" "" "pathogenic" "" "0000435664" "1" "90" "10" "92678914" "92678914" "subst" "0.000545727" "00006" "ANKRD1_000021" "g.92678914C>A" "1/208 cases" "{PMID:Moulik 2009:19608030}" "" "" "not in 360 control chromosomes" "Germline" "no" "rs114435632" "0" "" "" "g.90919157C>A" "" "pathogenic" "" "0000435665" "1" "90" "10" "92677489" "92677489" "subst" "0" "00006" "ANKRD1_000022" "g.92677489C>T" "1/208 cases" "{PMID:Moulik 2009:19608030}" "" "" "not in 360 control chromosomes" "Germline" "yes" "" "0" "" "" "g.90917732C>T" "" "pathogenic" "" "0000435666" "0" "10" "10" "92680863" "92680863" "subst" "0" "00006" "ANKRD1_000006" "g.92680863G>A" "2/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Unknown" "" "" "0" "" "" "g.90921106G>A" "" "benign" "" "0000435667" "0" "10" "10" "92678765" "92678765" "subst" "0" "00006" "ANKRD1_000023" "g.92678765A>G" "" "{PMID:Meyer 2013:22892539}" "" "2268 rs56177217" "" "Unknown" "" "rs56177217" "0" "" "" "g.90919008A>G" "" "benign" "" "0000435668" "0" "10" "10" "0" "0" "" "0" "00006" "ANKRD1_000000" "g.(92677588_92678621)[del16]" "" "{PMID:Meyer 2013:22892539}" "" "(453+1_457-1)del16" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000435669" "0" "10" "10" "0" "0" "" "0" "00006" "ANKRD1_000000" "g.(92677588_92678621)[del21]" "" "{PMID:Meyer 2013:22892539}" "" "(453+1_457-1)del21" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000435670" "0" "10" "10" "0" "0" "" "0" "00006" "ANKRD1_000000" "g.(92677588_92678621)[del26]" "" "{PMID:Meyer 2013:22892539}" "" "(453+1_457-1)del26" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000435671" "0" "10" "10" "92675653" "92675653" "del" "0" "00006" "ANKRD1_000018" "g.92675653del" "35/255 cases" "{PMID:Meyer 2013:22892539}" "" "652-13delT" "" "Unknown" "" "rs3839939" "0" "" "" "g.90915896del" "" "benign" "" "0000435672" "0" "10" "10" "92672564" "92672564" "subst" "0" "00006" "ANKRD1_000024" "g.92672564T>C" "70/255 cases" "{PMID:Meyer 2013:22892539}" "" "" "" "Unknown" "" "rs3939" "0" "" "" "g.90912807T>C" "" "benign" "" "0000435673" "0" "10" "10" "92680025" "92680025" "subst" "0.000146309" "00006" "ANKRD1_000025" "g.92680025A>G" "1/510 chromosomes" "{PMID:Meyer 2013:22892539}" "" "" "" "Unknown" "" "rs145211719" "0" "" "" "g.90920268A>G" "" "benign" "" "0000435674" "0" "10" "10" "92680929" "92680929" "subst" "0" "00006" "ANKRD1_000001" "g.92680929A>G" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "104T>C" "" "Germline" "" "rs10881855" "0" "" "" "g.90921172A>G" "" "benign" "" "0000435675" "0" "90" "10" "92679964" "92679964" "subst" "0" "00006" "ANKRD1_000007" "g.92679964C>G" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity" "In vitro (cloned)" "" "" "0" "" "" "g.90920207C>G" "" "NA" "" "0000435676" "0" "70" "10" "92679936" "92679936" "subst" "0.000926656" "00006" "ANKRD1_000008" "g.92679936C>T" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity" "In vitro (cloned)" "" "" "0" "" "" "g.90920179C>T" "" "NA" "" "0000435677" "0" "90" "10" "92678920" "92678920" "subst" "0.000159049" "00006" "ANKRD1_000020" "g.92678920G>A" "" "{PMID:Moulik 2009:19608030}" "" "" "expression cloning normal cellular localization; differential stretch-induced gene expression" "In vitro (cloned)" "" "" "0" "" "" "g.90919163G>A" "" "NA" "" "0000435678" "0" "90" "10" "92678914" "92678914" "subst" "0.000545727" "00006" "ANKRD1_000021" "g.92678914C>A" "" "{PMID:Moulik 2009:19608030}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity; differential stretch-induced gene expression" "In vitro (cloned)" "" "" "0" "" "" "g.90919157C>A" "" "NA" "" "0000435679" "0" "70" "10" "92678728" "92678728" "subst" "0.0001493" "00006" "ANKRD1_000005" "g.92678728G>A" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity" "In vitro (cloned)" "" "" "0" "" "" "g.90918971G>A" "" "NA" "" "0000435680" "0" "90" "10" "92678728" "92678728" "subst" "0.0001493" "00006" "ANKRD1_000005" "g.92678728G>A" "" "{PMID:Cinquetti 2008:18273862}" "" "" "expression cloning slightly increased protein stability, enhanced transcriptional repression activity" "In vitro (cloned)" "" "" "0" "" "" "g.90918971G>A" "" "NA" "" "0000435681" "0" "90" "10" "92677489" "92677489" "subst" "0" "00006" "ANKRD1_000022" "g.92677489C>T" "" "{PMID:Moulik 2009:19608030}" "" "" "expression cloning normal cellular localization; YTH loss CARP binding to Talin1/FHL2" "In vitro (cloned)" "" "" "0" "" "" "g.90917732C>T" "" "NA" "" "0000435682" "0" "90" "10" "92675983" "92675983" "subst" "0" "00006" "ANKRD1_000009" "g.92675983A>C" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity" "In vitro (cloned)" "" "" "0" "" "" "g.90916226A>C" "" "NA" "" "0000435683" "0" "90" "10" "92675322" "92675322" "subst" "0.00273769" "00006" "ANKRD1_000010" "g.92675322G>A" "" "{PMID:Duboscq-Bidot 2009:19525294}" "" "" "expression cloning normal cellular localization, significantly reduced repressor activity" "In vitro (cloned)" "" "" "0" "" "" "g.90915565G>A" "" "NA" "" "0000541538" "0" "50" "10" "92672667" "92672667" "subst" "0" "02330" "ANKRD1_001061" "g.92672667G>A" "" "" "" "ANKRD1(NM_014391.3):c.916C>T (p.L306F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90912910G>A" "" "VUS" "" "0000541539" "0" "10" "10" "92672671" "92672671" "subst" "0" "02330" "ANKRD1_001062" "g.92672671G>A" "" "" "" "ANKRD1(NM_014391.3):c.912C>T (p.D304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90912914G>A" "" "benign" "" "0000541540" "0" "30" "10" "92675322" "92675322" "subst" "0.00273769" "01804" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915565G>A" "" "likely benign" "" "0000541541" "0" "10" "10" "92675522" "92675522" "subst" "0.000105764" "02330" "ANKRD1_000058" "g.92675522C>T" "" "" "" "ANKRD1(NM_014391.2):c.750+17G>A, ANKRD1(NM_014391.3):c.750+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915765C>T" "" "benign" "" "0000541542" "0" "30" "10" "92675522" "92675522" "subst" "0.000105764" "02327" "ANKRD1_000058" "g.92675522C>T" "" "" "" "ANKRD1(NM_014391.2):c.750+17G>A, ANKRD1(NM_014391.3):c.750+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915765C>T" "" "likely benign" "" "0000541543" "0" "30" "10" "92675645" "92675645" "subst" "1.69039E-5" "02327" "ANKRD1_000079" "g.92675645A>G" "" "" "" "ANKRD1(NM_014391.3):c.652-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915888A>G" "" "likely benign" "" "0000541544" "0" "50" "10" "92675931" "92675931" "subst" "0" "01804" "ANKRD1_001063" "g.92675931A>T" "" "" "" "ANKRD1(NM_014391.2):c.648T>A (p.(Asp216Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916174A>T" "" "VUS" "" "0000541545" "0" "10" "10" "92676019" "92676019" "subst" "0.000606001" "02330" "ANKRD1_001064" "g.92676019G>A" "" "" "" "ANKRD1(NM_014391.2):c.560C>T (p.S187F), ANKRD1(NM_014391.3):c.560C>T (p.S187F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916262G>A" "" "benign" "" "0000541546" "0" "30" "10" "92676019" "92676019" "subst" "0.000606001" "01943" "ANKRD1_001064" "g.92676019G>A" "" "" "" "ANKRD1(NM_014391.2):c.560C>T (p.S187F), ANKRD1(NM_014391.3):c.560C>T (p.S187F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916262G>A" "" "likely benign" "" "0000541547" "0" "30" "10" "92676019" "92676019" "subst" "0.000606001" "02325" "ANKRD1_001064" "g.92676019G>A" "" "" "" "ANKRD1(NM_014391.2):c.560C>T (p.S187F), ANKRD1(NM_014391.3):c.560C>T (p.S187F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916262G>A" "" "likely benign" "" "0000541548" "0" "30" "10" "92676019" "92676019" "subst" "0.000606001" "02326" "ANKRD1_001064" "g.92676019G>A" "" "" "" "ANKRD1(NM_014391.2):c.560C>T (p.S187F), ANKRD1(NM_014391.3):c.560C>T (p.S187F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916262G>A" "" "likely benign" "" "0000541549" "0" "50" "10" "92676033" "92676033" "dup" "0" "02330" "ANKRD1_001065" "g.92676033dup" "" "" "" "ANKRD1(NM_014391.3):c.553-6dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90916276dup" "" "VUS" "" "0000541550" "0" "50" "10" "92677497" "92677497" "subst" "3.66312E-5" "02326" "ANKRD1_001066" "g.92677497G>A" "" "" "" "ANKRD1(NM_014391.2):c.544C>T (p.R182C), ANKRD1(NM_014391.3):c.544C>T (p.R182C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90917740G>A" "" "VUS" "" "0000541551" "0" "30" "10" "92678614" "92678614" "subst" "1.63433E-5" "02327" "ANKRD1_001067" "g.92678614A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918857A>G" "" "likely benign" "" "0000541552" "0" "50" "10" "92678626" "92678626" "subst" "7.34652E-5" "01943" "ANKRD1_001068" "g.92678626T>A" "" "" "" "ANKRD1(NM_014391.2):c.449A>T (p.D150V), ANKRD1(NM_014391.3):c.449A>T (p.D150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918869T>A" "" "VUS" "" "0000541553" "0" "30" "10" "92678658" "92678658" "subst" "0.00055855" "01804" "ANKRD1_001069" "g.92678658G>T" "" "" "" "ANKRD1(NM_014391.2):c.417C>A (p.(Phe139Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918901G>T" "" "likely benign" "" "0000541554" "0" "10" "10" "92678707" "92678707" "subst" "0.000292378" "02330" "ANKRD1_000012" "g.92678707G>A" "" "" "" "ANKRD1(NM_014391.2):c.368C>T (p.T123M), ANKRD1(NM_014391.3):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918950G>A" "" "benign" "" "0000541555" "0" "30" "10" "92678707" "92678707" "subst" "0.000292378" "01943" "ANKRD1_000012" "g.92678707G>A" "" "" "" "ANKRD1(NM_014391.2):c.368C>T (p.T123M), ANKRD1(NM_014391.3):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918950G>A" "" "likely benign" "" "0000541556" "0" "30" "10" "92678707" "92678707" "subst" "0.000292378" "02327" "ANKRD1_000012" "g.92678707G>A" "" "" "" "ANKRD1(NM_014391.2):c.368C>T (p.T123M), ANKRD1(NM_014391.3):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918950G>A" "" "likely benign" "" "0000541557" "0" "30" "10" "92678707" "92678707" "subst" "0.000292378" "02325" "ANKRD1_000012" "g.92678707G>A" "" "" "" "ANKRD1(NM_014391.2):c.368C>T (p.T123M), ANKRD1(NM_014391.3):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918950G>A" "" "likely benign" "" "0000541558" "0" "30" "10" "92678727" "92678727" "subst" "0.0145129" "01804" "ANKRD1_001060" "g.92678727C>T" "" "" "" "ANKRD1(NM_014391.2):c.348G>A (p.(=)), ANKRD1(NM_014391.3):c.348G>A (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918970C>T" "" "likely benign" "" "0000541559" "0" "50" "10" "92678728" "92678728" "subst" "0.0001493" "02330" "ANKRD1_000005" "g.92678728G>A" "" "" "" "ANKRD1(NM_014391.2):c.347C>T (p.T116M), ANKRD1(NM_014391.3):c.347C>T (p.T116M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918971G>A" "" "VUS" "" "0000541560" "0" "30" "10" "92678736" "92678736" "subst" "0" "02327" "ANKRD1_001070" "g.92678736C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918979C>A" "" "likely benign" "" "0000541561" "0" "10" "10" "92678743" "92678744" "ins" "0" "02326" "ANKRD1_000070" "g.92678743_92678744insT" "" "" "" "ANKRD1(NM_014391.2):c.346-15_346-14insA, ANKRD1(NM_014391.3):c.346-15_346-14insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918986_90918987insT" "" "benign" "" "0000541562" "0" "10" "10" "92678744" "92678744" "subst" "0" "02330" "ANKRD1_001071" "g.92678744A>T" "" "" "" "ANKRD1(NM_014391.3):c.346-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987A>T" "" "benign" "" "0000541563" "0" "10" "10" "92678744" "92678744" "subst" "0" "02327" "ANKRD1_001071" "g.92678744A>T" "" "" "" "ANKRD1(NM_014391.3):c.346-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987A>T" "" "benign" "" "0000541564" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001072" "g.92678744_92678745insT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insT" "" "benign" "" "0000541565" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001073" "g.92678744_92678745insTAT" "" "" "" "ANKRD1(NM_014391.2):c.346-16_346-15insATA, ANKRD1(NM_014391.3):c.346-16_346-15insATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTAT" "" "benign" "" "0000541566" "0" "30" "10" "92678744" "92678745" "ins" "0" "02326" "ANKRD1_001073" "g.92678744_92678745insTAT" "" "" "" "ANKRD1(NM_014391.2):c.346-16_346-15insATA, ANKRD1(NM_014391.3):c.346-16_346-15insATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTAT" "" "likely benign" "" "0000541567" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001074" "g.92678744_92678745insTATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATAT" "" "benign" "" "0000541568" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001075" "g.92678744_92678745insTATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATATATAT" "" "benign" "" "0000541569" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001076" "g.92678744_92678745insTATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATATATATATATAT" "" "benign" "" "0000541570" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001077" "g.92678744_92678745insTATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATATATATATATATAT" "" "benign" "" "0000541571" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001078" "g.92678744_92678745insTATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATATATATATATATATATAT" "" "benign" "" "0000541572" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001079" "g.92678744_92678745insTATATATATATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15ins33" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATATATATATATATATATATATATATAT" "" "benign" "" "0000541573" "0" "10" "10" "92678744" "92678767" "del" "0" "02330" "ANKRD1_000031" "g.92678744_92678767del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90919010del" "" "benign" "" "0000541574" "0" "30" "10" "92678744" "92678767" "del" "0" "02326" "ANKRD1_000031" "g.92678744_92678767del" "" "" "" "ANKRD1(NM_014391.2):c.346-35_346-12delATATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-35_346-12delATATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90919010del" "" "likely benign" "" "0000541575" "0" "10" "10" "92678748" "92678751" "dup" "0" "02330" "ANKRD1_001080" "g.92678748_92678751dup" "" "" "" "ANKRD1(NM_014391.3):c.346-13_346-10dupATTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918991_90918994dup" "" "benign" "" "0000541576" "0" "10" "10" "92678751" "92678752" "ins" "0" "02330" "ANKRD1_001081" "g.92678751_92678752insAATATA" "" "" "" "ANKRD1(NM_014391.3):c.346-20_346-19insATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918994_90918995insAATATA" "" "benign" "" "0000541577" "0" "10" "10" "92678765" "92678765" "subst" "0" "02327" "ANKRD1_000023" "g.92678765A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919008A>G" "" "benign" "" "0000541578" "0" "10" "10" "92678766" "92678773" "dup" "0" "02330" "ANKRD1_001082" "g.92678766_92678773dup" "" "" "" "ANKRD1(NM_014391.3):c.346-27_346-20dupATATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919009_90919016dup" "" "benign" "" "0000541579" "0" "10" "10" "92678768" "92678773" "dup" "0" "02330" "ANKRD1_001083" "g.92678768_92678773dup" "" "" "" "ANKRD1(NM_014391.2):c.346-25_346-20dupATATAT, ANKRD1(NM_014391.3):c.346-25_346-20dupATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919011_90919016dup" "" "benign" "" "0000541580" "0" "10" "10" "92678770" "92678773" "dup" "0" "02330" "ANKRD1_001084" "g.92678770_92678773dup" "" "" "" "ANKRD1(NM_014391.3):c.346-23_346-20dupATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919013_90919016dup" "" "benign" "" "0000541581" "0" "10" "10" "92678772" "92678773" "dup" "0" "02330" "ANKRD1_001085" "g.92678772_92678773dup" "" "" "" "ANKRD1(NM_014391.2):c.346-21_346-20dupAT, ANKRD1(NM_014391.3):c.346-21_346-20dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919015_90919016dup" "" "benign" "" "0000541582" "0" "10" "10" "92678914" "92678914" "subst" "0.000545727" "02330" "ANKRD1_000021" "g.92678914C>A" "" "" "" "ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919157C>A" "" "benign" "" "0000541583" "0" "30" "10" "92678914" "92678914" "subst" "0.000545727" "01943" "ANKRD1_000021" "g.92678914C>A" "" "" "" "ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919157C>A" "" "likely benign" "" "0000541584" "0" "30" "10" "92678914" "92678914" "subst" "0.000545727" "02327" "ANKRD1_000021" "g.92678914C>A" "" "" "" "ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919157C>A" "" "likely benign" "" "0000541585" "0" "50" "10" "92678920" "92678920" "subst" "0.000159049" "02330" "ANKRD1_000020" "g.92678920G>A" "" "" "" "ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919163G>A" "" "VUS" "" "0000541586" "0" "50" "10" "92678920" "92678920" "subst" "0.000159049" "02327" "ANKRD1_000020" "g.92678920G>A" "" "" "" "ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919163G>A" "" "VUS" "" "0000541587" "0" "70" "10" "92678920" "92678920" "subst" "0.000159049" "02326" "ANKRD1_000020" "g.92678920G>A" "" "" "" "ANKRD1(NM_014391.2):c.313C>T (p.P105S), ANKRD1(NM_014391.3):c.313C>T (p.P105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919163G>A" "" "likely pathogenic" "" "0000541588" "0" "50" "10" "92678977" "92678977" "subst" "0.00032676" "01943" "ANKRD1_000046" "g.92678977C>G" "" "" "" "ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919220C>G" "" "VUS" "" "0000541589" "0" "30" "10" "92678977" "92678977" "subst" "0.00032676" "02326" "ANKRD1_000046" "g.92678977C>G" "" "" "" "ANKRD1(NM_014391.2):c.256G>C (p.D86H), ANKRD1(NM_014391.3):c.256G>C (p.D86H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919220C>G" "" "likely benign" "" "0000541590" "0" "50" "10" "92678999" "92678999" "subst" "0.000116604" "02327" "ANKRD1_001086" "g.92678999T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919242T>A" "" "VUS" "" "0000541591" "0" "50" "10" "92679016" "92679016" "dup" "0" "02330" "ANKRD1_000047" "g.92679016dup" "" "" "" "ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919259dup" "" "VUS" "" "0000541592" "0" "50" "10" "92679016" "92679016" "dup" "0" "01943" "ANKRD1_000047" "g.92679016dup" "" "" "" "ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919259dup" "" "VUS" "" "0000541593" "0" "50" "10" "92679034" "92679037" "del" "0" "02326" "ANKRD1_001087" "g.92679034_92679037del" "" "" "" "ANKRD1(NM_014391.2):c.208-9_208-6delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919277_90919280del" "" "VUS" "" "0000541594" "0" "10" "10" "92679041" "92679041" "subst" "0.00506635" "02327" "ANKRD1_000015" "g.92679041G>A" "" "" "" "ANKRD1(NM_014391.2):c.208-16C>T, ANKRD1(NM_014391.3):c.208-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919284G>A" "" "benign" "" "0000541595" "0" "10" "10" "92679936" "92679936" "subst" "0.000926656" "02330" "ANKRD1_000008" "g.92679936C>T" "" "" "" "ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920179C>T" "" "benign" "" "0000541596" "0" "30" "10" "92679936" "92679936" "subst" "0.000926656" "01943" "ANKRD1_000008" "g.92679936C>T" "" "" "" "ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920179C>T" "" "likely benign" "" "0000541597" "0" "10" "10" "92679936" "92679936" "subst" "0.000926656" "02327" "ANKRD1_000008" "g.92679936C>T" "" "" "" "ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920179C>T" "" "benign" "" "0000541598" "0" "10" "10" "92679937" "92679937" "subst" "0.00131675" "02330" "ANKRD1_001088" "g.92679937G>C" "" "" "" "ANKRD1(NM_014391.2):c.196C>G (p.R66G), ANKRD1(NM_014391.3):c.196C>G (p.R66G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920180G>C" "" "benign" "" "0000541599" "0" "10" "10" "92679937" "92679937" "subst" "0.00131675" "01943" "ANKRD1_001088" "g.92679937G>C" "" "" "" "ANKRD1(NM_014391.2):c.196C>G (p.R66G), ANKRD1(NM_014391.3):c.196C>G (p.R66G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920180G>C" "" "benign" "" "0000541600" "0" "10" "10" "92679968" "92679968" "subst" "1.21916E-5" "02330" "ANKRD1_001089" "g.92679968C>G" "" "" "" "ANKRD1(NM_014391.3):c.165G>C (p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920211C>G" "" "benign" "" "0000541601" "0" "50" "10" "92679979" "92679979" "subst" "7.72151E-5" "02330" "ANKRD1_000011" "g.92679979G>C" "" "" "" "ANKRD1(NM_014391.3):c.154C>G (p.P52A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920222G>C" "" "VUS" "" "0000541602" "0" "30" "10" "92679983" "92679983" "subst" "0.00148743" "01943" "ANKRD1_000049" "g.92679983G>C" "" "" "" "ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920226G>C" "" "likely benign" "" "0000541603" "0" "10" "10" "92679983" "92679983" "subst" "0.00148743" "02327" "ANKRD1_000049" "g.92679983G>C" "" "" "" "ANKRD1(NM_014391.2):c.150C>G (p.A50=), ANKRD1(NM_014391.3):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920226G>C" "" "benign" "" "0000541604" "0" "10" "10" "92679985" "92679985" "subst" "0.0008575" "02327" "ANKRD1_000050" "g.92679985C>G" "" "" "" "ANKRD1(NM_014391.3):c.148G>C (p.A50P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920228C>G" "" "benign" "" "0000541605" "0" "30" "10" "92680025" "92680025" "subst" "0.000146309" "02327" "ANKRD1_000025" "g.92680025A>G" "" "" "" "ANKRD1(NM_014391.2):c.108T>C (p.A36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920268A>G" "" "likely benign" "" "0000541606" "0" "50" "10" "92680056" "92680056" "subst" "0" "01943" "ANKRD1_001090" "g.92680056T>G" "" "" "" "ANKRD1(NM_014391.2):c.77A>C (p.E26A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920299T>G" "" "VUS" "" "0000541607" "0" "30" "10" "92680087" "92680087" "subst" "0" "02327" "ANKRD1_001091" "g.92680087C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920330C>T" "" "likely benign" "" "0000541608" "0" "10" "10" "92680747" "92680747" "subst" "8.1626E-6" "02330" "ANKRD1_001092" "g.92680747A>G" "" "" "" "ANKRD1(NM_014391.3):c.27+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920990A>G" "" "benign" "" "0000541609" "0" "50" "10" "92680782" "92680782" "subst" "4.07057E-6" "02330" "ANKRD1_001093" "g.92680782C>A" "" "" "" "ANKRD1(NM_014391.2):c.3G>T (p.M1?), ANKRD1(NM_014391.3):c.3G>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90921025C>A" "" "VUS" "" "0000541610" "0" "50" "10" "92680782" "92680782" "subst" "4.07057E-6" "01943" "ANKRD1_001093" "g.92680782C>A" "" "" "" "ANKRD1(NM_014391.2):c.3G>T (p.M1?), ANKRD1(NM_014391.3):c.3G>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90921025C>A" "" "VUS" "" "0000612798" "0" "10" "10" "92675322" "92675322" "subst" "0.00273769" "02327" "ANKRD1_000010" "g.92675322G>A" "" "" "" "ANKRD1(NM_014391.2):c.827C>T (p.A276V, p.(Ala276Val)), ANKRD1(NM_014391.3):c.827C>T (p.A276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915565G>A" "" "benign" "" "0000612799" "0" "50" "10" "92675373" "92675373" "subst" "0" "02325" "ANKRD1_001094" "g.92675373G>A" "" "" "" "ANKRD1(NM_014391.3):c.776C>T (p.A259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90915616G>A" "" "VUS" "" "0000612800" "0" "10" "10" "92677471" "92677471" "subst" "8.15601E-6" "02330" "ANKRD1_001095" "g.92677471G>A" "" "" "" "ANKRD1(NM_014391.3):c.552+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90917714G>A" "" "benign" "" "0000612801" "0" "30" "10" "92677483" "92677483" "subst" "0" "02327" "ANKRD1_001096" "g.92677483A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90917726A>T" "" "likely benign" "" "0000612802" "0" "50" "10" "92678626" "92678626" "subst" "7.34652E-5" "02327" "ANKRD1_001068" "g.92678626T>A" "" "" "" "ANKRD1(NM_014391.2):c.449A>T (p.D150V), ANKRD1(NM_014391.3):c.449A>T (p.D150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918869T>A" "" "VUS" "" "0000612803" "0" "50" "10" "92678687" "92678687" "subst" "3.26765E-5" "01943" "ANKRD1_001097" "g.92678687C>A" "" "" "" "ANKRD1(NM_014391.2):c.388G>T (p.E130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918930C>A" "" "VUS" "" "0000612804" "0" "30" "10" "92678706" "92678706" "subst" "0.000339927" "01943" "ANKRD1_000091" "g.92678706C>T" "" "" "" "ANKRD1(NM_014391.2):c.369G>A (p.T123=), ANKRD1(NM_014391.3):c.369G>A (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918949C>T" "" "likely benign" "" "0000612805" "0" "10" "10" "92678727" "92678727" "subst" "0.0145129" "02327" "ANKRD1_001060" "g.92678727C>T" "" "" "" "ANKRD1(NM_014391.2):c.348G>A (p.(=)), ANKRD1(NM_014391.3):c.348G>A (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918970C>T" "" "benign" "" "0000612806" "0" "30" "10" "92678728" "92678728" "subst" "0.0001493" "02327" "ANKRD1_000005" "g.92678728G>A" "" "" "" "ANKRD1(NM_014391.2):c.347C>T (p.T116M), ANKRD1(NM_014391.3):c.347C>T (p.T116M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918971G>A" "" "likely benign" "" "0000612807" "0" "10" "10" "92678744" "92678757" "del" "0.00066313" "02330" "ANKRD1_001099" "g.92678744_92678757del" "" "" "" "ANKRD1(NM_014391.3):c.346-25_346-12delATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90919000del" "" "benign" "" "0000612808" "0" "10" "10" "92678772" "92678773" "dup" "0" "02326" "ANKRD1_001085" "g.92678772_92678773dup" "" "" "" "ANKRD1(NM_014391.2):c.346-21_346-20dupAT, ANKRD1(NM_014391.3):c.346-21_346-20dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919015_90919016dup" "" "benign" "" "0000612809" "0" "30" "10" "92679921" "92679921" "subst" "0" "02327" "ANKRD1_001100" "g.92679921C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920164C>G" "" "likely benign" "" "0000612810" "0" "10" "10" "92679980" "92679980" "subst" "0" "02330" "ANKRD1_001101" "g.92679980G>A" "" "" "" "ANKRD1(NM_014391.3):c.153C>T (p.H51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920223G>A" "" "benign" "" "0000612811" "0" "50" "10" "92680000" "92680000" "subst" "7.31523E-5" "02327" "ANKRD1_001102" "g.92680000G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920243G>C" "" "VUS" "" "0000612812" "0" "30" "10" "92680076" "92680076" "subst" "4.06815E-6" "02327" "ANKRD1_001103" "g.92680076C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90920319C>G" "" "likely benign" "" "0000622461" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001098" "g.92678744_92678745insTATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918987_90918988insTATATATAT" "" "benign" "" "0000622462" "0" "10" "10" "92679040" "92679040" "subst" "0.000407778" "02326" "ANKRD1_000048" "g.92679040C>T" "" "" "" "ANKRD1(NM_014391.2):c.208-15G>A, ANKRD1(NM_014391.3):c.208-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90919283C>T" "" "benign" "" "0000648031" "1" "50" "10" "92678707" "92678707" "subst" "0.000292378" "03575" "ANKRD1_000012" "g.92678707G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs145387010}" "Germline" "" "rs145387010" "0" "" "" "g.90918950G>A" "" "VUS" "" "0000656603" "0" "50" "10" "92678728" "92678728" "subst" "0.0001493" "01943" "ANKRD1_000005" "g.92678728G>A" "" "" "" "ANKRD1(NM_014391.2):c.347C>T (p.T116M), ANKRD1(NM_014391.3):c.347C>T (p.T116M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90918971G>A" "" "VUS" "" "0000678958" "0" "30" "10" "92679936" "92679936" "subst" "0.000926656" "02326" "ANKRD1_000008" "g.92679936C>T" "" "" "" "ANKRD1(NM_014391.2):c.197G>A (p.R66Q), ANKRD1(NM_014391.3):c.197G>A (p.R66Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690837" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001104" "g.92678744_92678745insTATATATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690838" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001105" "g.92678744_92678745insTATATATATATATATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15ins37" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690839" "0" "10" "10" "92678748" "92678748" "subst" "0" "02326" "ANKRD1_000040" "g.92678748A>T" "" "" "" "ANKRD1(NM_014391.2):c.346-21_346-19delATTinsATA, ANKRD1(NM_014391.3):c.346-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690840" "0" "30" "10" "92678768" "92678773" "dup" "0" "02326" "ANKRD1_001083" "g.92678768_92678773dup" "" "" "" "ANKRD1(NM_014391.2):c.346-25_346-20dupATATAT, ANKRD1(NM_014391.3):c.346-25_346-20dupATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690841" "0" "30" "10" "92678914" "92678914" "subst" "0.000545727" "02326" "ANKRD1_000021" "g.92678914C>A" "" "" "" "ANKRD1(NM_014391.2):c.319G>T (p.V107L), ANKRD1(NM_014391.3):c.319G>T (p.V107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000700007" "0" "50" "10" "92680055" "92680055" "subst" "0" "00006" "ANKRD1_001109" "g.92680055C>G" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.90920298C>G" "" "VUS" "" "0000700008" "0" "50" "10" "92678702" "92678703" "del" "0" "00006" "ANKRD1_001108" "g.92678702_92678703del" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.90918945_90918946del" "" "VUS" "" "0000700009" "0" "50" "10" "92675619" "92675619" "subst" "0" "00006" "ANKRD1_001107" "g.92675619G>A" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.90915862G>A" "" "VUS" "" "0000700010" "0" "50" "10" "92675592" "92675592" "subst" "4.07093E-6" "00006" "ANKRD1_001106" "g.92675592C>G" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.90915835C>G" "" "VUS" "" "0000723018" "0" "50" "10" "92676025" "92676025" "subst" "0" "02325" "ANKRD1_001110" "g.92676025A>G" "" "" "" "ANKRD1(NM_014391.3):c.554T>C (p.L185P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723019" "0" "50" "10" "92677497" "92677497" "subst" "3.66312E-5" "02325" "ANKRD1_001066" "g.92677497G>A" "" "" "" "ANKRD1(NM_014391.2):c.544C>T (p.R182C), ANKRD1(NM_014391.3):c.544C>T (p.R182C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723020" "0" "30" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001111" "g.92678744_92678745insTATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723021" "0" "30" "10" "92678744" "92678765" "del" "0" "02326" "ANKRD1_000075" "g.92678744_92678765del" "" "" "" "ANKRD1(NM_014391.2):c.346-33_346-12delATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-33_346-12delATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723022" "0" "50" "10" "92679016" "92679016" "dup" "0" "02326" "ANKRD1_000047" "g.92679016dup" "" "" "" "ANKRD1(NM_014391.2):c.222dupA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.216delGinsGA (p.L75Tfs*8), ANKRD1(NM_014391.3):c.222dupA (p.L75Tfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723023" "0" "30" "10" "92680025" "92680025" "subst" "0.000146309" "01943" "ANKRD1_000025" "g.92680025A>G" "" "" "" "ANKRD1(NM_014391.2):c.108T>C (p.A36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804631" "0" "50" "10" "92672702" "92672702" "subst" "2.04829E-5" "02325" "ANKRD1_001112" "g.92672702T>C" "" "" "" "ANKRD1(NM_014391.3):c.881A>G (p.H294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804632" "0" "30" "10" "92675522" "92675522" "subst" "0.000105764" "02326" "ANKRD1_000058" "g.92675522C>T" "" "" "" "ANKRD1(NM_014391.2):c.750+17G>A, ANKRD1(NM_014391.3):c.750+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804633" "0" "50" "10" "92677536" "92677536" "subst" "0" "02330" "ANKRD1_001113" "g.92677536C>A" "" "" "" "ANKRD1(NM_014391.3):c.505G>T (p.V169L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804634" "0" "50" "10" "92678696" "92678696" "subst" "0" "02330" "ANKRD1_001114" "g.92678696C>G" "" "" "" "ANKRD1(NM_014391.3):c.379G>C (p.A127P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852632" "0" "30" "10" "92675611" "92675611" "subst" "4.07087E-6" "02330" "ANKRD1_001116" "g.92675611C>T" "" "" "" "ANKRD1(NM_014391.3):c.678G>A (p.A226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852633" "0" "10" "10" "92678605" "92678605" "subst" "0" "02330" "ANKRD1_001117" "g.92678605C>A" "" "" "" "ANKRD1(NM_014391.3):c.453+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852634" "0" "50" "10" "92678626" "92678626" "subst" "7.34652E-5" "02330" "ANKRD1_001068" "g.92678626T>A" "" "" "" "ANKRD1(NM_014391.2):c.449A>T (p.D150V), ANKRD1(NM_014391.3):c.449A>T (p.D150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852635" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001118" "g.92678744_92678745insTATATATATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862079" "0" "50" "10" "92675400" "92675400" "subst" "0" "02330" "ANKRD1_001115" "g.92675400T>C" "" "" "" "ANKRD1(NM_014391.3):c.751-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862080" "0" "10" "10" "92678879" "92678879" "dup" "0" "02330" "ANKRD1_001119" "g.92678879dup" "" "" "" "ANKRD1(NM_014391.3):c.345+17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889320" "0" "50" "10" "92675983" "92675983" "subst" "0" "02327" "ANKRD1_001120" "g.92675983A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889321" "0" "10" "10" "92678667" "92678667" "subst" "0" "02330" "ANKRD1_001121" "g.92678667T>C" "" "" "" "ANKRD1(NM_014391.3):c.408A>G (p.V136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889322" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001122" "g.92678744_92678745insTATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889323" "0" "50" "10" "92678944" "92678944" "dup" "0" "02330" "ANKRD1_000045" "g.92678944dup" "" "" "" "ANKRD1(NM_014391.3):c.288delGinsGA (p.Y99Ifs*5), ANKRD1(NM_014391.3):c.294dupA (p.Y99Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889324" "0" "50" "10" "92679946" "92679946" "subst" "7.31517E-5" "02325" "ANKRD1_001123" "g.92679946C>T" "" "" "" "ANKRD1(NM_014391.3):c.187G>A (p.E63K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913372" "0" "50" "10" "92675541" "92675541" "dup" "0" "02327" "ANKRD1_001124" "g.92675541dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913373" "0" "50" "10" "92678626" "92678626" "subst" "7.34652E-5" "02325" "ANKRD1_001068" "g.92678626T>A" "" "" "" "ANKRD1(NM_014391.2):c.449A>T (p.D150V), ANKRD1(NM_014391.3):c.449A>T (p.D150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925223" "0" "50" "10" "92675599" "92675599" "del" "0" "02330" "ANKRD1_000077" "g.92675599del" "" "" "" "ANKRD1(NM_014391.3):c.691delC (p.H231Tfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925224" "0" "10" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001125" "g.92678744_92678745insTATATATATATATATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929726" "0" "30" "10" "92678744" "92678745" "ins" "0" "02330" "ANKRD1_001126" "g.92678744_92678745insTATATATATATATAT" "" "" "" "ANKRD1(NM_014391.3):c.346-16_346-15insATATATATATATATA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929727" "0" "10" "10" "92678764" "92678773" "dup" "0" "02330" "ANKRD1_001127" "g.92678764_92678773dup" "" "" "" "ANKRD1(NM_014391.3):c.346-29_346-20dupATATATATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949471" "0" "50" "10" "92672640" "92672640" "subst" "4.07203E-6" "02330" "ANKRD1_001128" "g.92672640G>T" "" "" "" "ANKRD1(NM_014391.3):c.943C>A (p.R315S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949472" "0" "50" "10" "92675329" "92675329" "subst" "0.000109828" "02330" "ANKRD1_001129" "g.92675329A>G" "" "" "" "ANKRD1(NM_014391.3):c.820T>C (p.Y274H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949473" "0" "50" "10" "92675984" "92675984" "subst" "0" "02325" "ANKRD1_001130" "g.92675984G>T" "" "" "" "ANKRD1(NM_014391.3):c.595C>A (p.L199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965935" "0" "50" "10" "92677569" "92677569" "subst" "1.22129E-5" "02330" "ANKRD1_001131" "g.92677569G>A" "" "" "" "ANKRD1(NM_014391.3):c.472C>T (p.H158Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965936" "0" "10" "10" "92678744" "92678765" "del" "0" "02330" "ANKRD1_000075" "g.92678744_92678765del" "" "" "" "ANKRD1(NM_014391.2):c.346-33_346-12delATATATATATATATTTATTTAT, ANKRD1(NM_014391.3):c.346-33_346-12delATATATATATATATTTATTTAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965937" "0" "50" "10" "92678933" "92678933" "subst" "8.16686E-6" "02330" "ANKRD1_001132" "g.92678933C>G" "" "" "" "ANKRD1(NM_014391.3):c.300G>C (p.R100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979237" "0" "10" "10" "92675378" "92675378" "subst" "0" "02330" "ANKRD1_001133" "g.92675378A>G" "" "" "" "ANKRD1(NM_014391.3):c.771T>C (p.H257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979238" "0" "10" "10" "92675587" "92675587" "subst" "4.06951E-6" "02330" "ANKRD1_001134" "g.92675587G>A" "" "" "" "ANKRD1(NM_014391.3):c.702C>T (p.C234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989675" "0" "50" "10" "92680782" "92680782" "subst" "9.76936E-5" "02515" "ANKRD1_001135" "g.92680782C>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.90921025C>G" "" "VUS" "" "0000989937" "0" "30" "10" "92679979" "92679979" "subst" "7.72151E-5" "03779" "ANKRD1_000011" "g.92679979G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs397517248" "0" "" "" "" "" "likely benign" "" "0000998609" "0" "50" "10" "92680782" "92680782" "subst" "9.76936E-5" "02330" "ANKRD1_001135" "g.92680782C>G" "" "" "" "ANKRD1(NM_014391.3):c.3G>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014692" "0" "50" "10" "92676025" "92676025" "subst" "0" "02330" "ANKRD1_001110" "g.92676025A>G" "" "" "" "ANKRD1(NM_014391.3):c.554T>C (p.L185P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025800" "0" "50" "10" "92680782" "92680782" "subst" "0" "02325" "ANKRD1_001136" "g.92680782C>T" "" "" "" "ANKRD1(NM_014391.3):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038097" "0" "30" "10" "92678740" "92678741" "del" "0" "02330" "ANKRD1_001137" "g.92678740_92678741del" "" "" "" "ANKRD1(NM_014391.3):c.346-10_346-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ANKRD1 ## Count = 269 "{{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}}" "0000175200" "00002498" "70" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "8" "0000218480" "00002498" "50" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "" "0000246933" "00002498" "10" "751" "-3" "751" "-3" "c.751-3T>C" "r.spl?" "p.?" "" "0000246934" "00002498" "10" "652" "-8" "652" "-8" "c.652-8T>C" "r.(=)" "p.(=)" "" "0000246935" "00002498" "10" "652" "-13" "652" "-13" "c.652-13del" "r.(=)" "p.(=)" "" "0000246936" "00002498" "10" "346" "-19" "346" "-19" "c.346-19T>A" "r.(=)" "p.(=)" "" "0000246937" "00002498" "10" "345" "17" "345" "17" "c.345+17del" "r.(=)" "p.(=)" "" "0000246938" "00002498" "10" "28" "-3" "28" "-3" "c.28-3T>C" "r.spl?" "p.?" "" "0000246939" "00002498" "10" "27" "15" "27" "15" "c.27+15T>C" "r.(=)" "p.(=)" "" "0000246958" "00002498" "50" "481" "0" "481" "0" "c.481T>C" "r.(?)" "p.(Cys161Arg)" "" "0000246968" "00002498" "50" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Leu219His)" "" "0000246969" "00002498" "30" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Met273Thr)" "" "0000249384" "00002498" "30" "441" "0" "441" "0" "c.441T>C" "r.(?)" "p.(Asp147=)" "" "0000252195" "00002498" "30" "346" "-9" "346" "-9" "c.346-9del" "r.(=)" "p.(=)" "" "0000253842" "00002498" "10" "345" "17" "345" "17" "c.345+17T>C" "r.(=)" "p.(=)" "" "0000257830" "00002498" "10" "-17" "0" "-17" "0" "c.-17A>G" "r.(?)" "p.(=)" "" "0000257831" "00002498" "10" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Ala50Pro)" "" "0000257832" "00002498" "10" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000257833" "00002498" "10" "208" "-15" "208" "-15" "c.208-15G>A" "r.(=)" "p.(=)" "" "0000257834" "00002498" "10" "208" "-16" "208" "-16" "c.208-16C>T" "r.(=)" "p.(=)" "" "0000257835" "00002498" "30" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Asp86His)" "" "0000257836" "00002498" "50" "28" "-1" "28" "-1" "c.28-1G>A" "r.spl?" "p.?" "" "0000257840" "00002498" "10" "346" "-15" "346" "-14" "c.346-15_346-14insA" "r.(=)" "p.(=)" "" "0000257844" "00002498" "10" "346" "-17" "346" "-10" "c.346-17_346-10del" "r.(=)" "p.(=)" "" "0000257845" "00002498" "10" "346" "-19" "346" "-14" "c.346-19_346-14del" "r.(=)" "p.(=)" "" "0000257846" "00002498" "10" "346" "-15" "346" "-14" "c.346-15_346-14del" "r.(=)" "p.(=)" "" "0000257847" "00002498" "10" "346" "-19" "346" "-18" "c.346-19_346-18del" "r.(=)" "p.(=)" "" "0000257852" "00002498" "10" "346" "-21" "346" "-20" "c.346-21_346-20del" "r.(=)" "p.(=)" "" "0000257854" "00002498" "10" "346" "-27" "346" "-12" "c.346-27_346-12del" "r.(=)" "p.(=)" "" "0000257855" "00002498" "10" "346" "-23" "346" "-12" "c.346-23_346-12del" "r.(=)" "p.(=)" "" "0000257857" "00002498" "10" "346" "-31" "346" "-12" "c.346-31_346-12del" "r.(=)" "p.(=)" "" "0000257858" "00002498" "10" "346" "-29" "346" "-12" "c.346-29_346-12del" "r.(=)" "p.(=)" "" "0000257859" "00002498" "10" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Thr116=)" "" "0000257860" "00002498" "10" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Thr123=)" "" "0000257862" "00002498" "50" "649" "0" "649" "0" "c.649A>G" "r.(?)" "p.(Lys217Glu)" "" "0000257863" "00002498" "10" "652" "-10" "652" "-10" "c.652-10A>T" "r.(=)" "p.(=)" "" "0000257864" "00002498" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(His237Arg)" "" "0000257865" "00002498" "30" "713" "0" "717" "0" "c.713_717del" "r.(?)" "p.(Leu238ArgfsTer3)" "" "0000257866" "00002498" "10" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000257867" "00002498" "50" "922" "0" "925" "0" "c.922_925del" "r.(?)" "p.(Glu308ThrfsTer8)" "" "0000258751" "00002498" "10" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Ala50Pro)" "" "0000258752" "00002498" "10" "346" "-17" "346" "-10" "c.346-17_346-10del" "r.(=)" "p.(=)" "" "0000258754" "00002498" "10" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000259084" "00002498" "10" "346" "-29" "346" "-12" "c.346-29_346-12del" "r.(=)" "p.(=)" "" "0000259318" "00002498" "30" "-17" "0" "-17" "0" "c.-17A>G" "r.(?)" "p.(=)" "" "0000259319" "00002498" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000259320" "00002498" "30" "208" "-16" "208" "-16" "c.208-16C>T" "r.(=)" "p.(=)" "" "0000259321" "00002498" "30" "346" "-19" "346" "-18" "c.346-19_346-18del" "r.(=)" "p.(=)" "" "0000259322" "00002498" "30" "652" "-10" "652" "-10" "c.652-10A>T" "r.(=)" "p.(=)" "" "0000259478" "00002498" "30" "346" "-17" "346" "-17" "c.346-17del" "r.(=)" "p.(=)" "" "0000259480" "00002498" "30" "346" "-13" "346" "-10" "c.346-13_346-10del" "r.(=)" "p.(=)" "" "0000259481" "00002498" "30" "346" "-29" "346" "-15" "c.346-29_346-15del" "r.(=)" "p.(=)" "" "0000259482" "00002498" "30" "346" "-33" "346" "-12" "c.346-33_346-12del" "r.(=)" "p.(=)" "" "0000259483" "00002498" "30" "346" "-35" "346" "-12" "c.346-35_346-12del" "r.(=)" "p.(=)" "" "0000259484" "00002498" "30" "750" "17" "750" "17" "c.750+17G>A" "r.(=)" "p.(=)" "" "0000259485" "00002498" "30" "751" "-4" "751" "-4" "c.751-4C>A" "r.spl?" "p.?" "" "0000259599" "00002498" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(His237Arg)" "" "0000259647" "00002498" "50" "222" "0" "222" "0" "c.222dup" "r.(?)" "p.(Leu75ThrfsTer8)" "" "0000259649" "00002498" "50" "294" "0" "294" "0" "c.294dup" "r.(?)" "p.(Tyr99IlefsTer5)" "" "0000259651" "00002498" "50" "351" "0" "351" "0" "c.351A>T" "r.(?)" "p.(Glu117Asp)" "" "0000259652" "00002498" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154Gln)" "" "0000259653" "00002498" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Ala156Thr)" "" "0000259654" "00002498" "50" "599" "0" "600" "0" "c.599_600del" "r.(?)" "p.(Asp200GlyfsTer8)" "" "0000259655" "00002498" "50" "643" "0" "643" "0" "c.643del" "r.(?)" "p.(Arg215GlufsTer13)" "" "0000259656" "00002498" "50" "651" "1" "651" "1" "c.651+1G>A" "r.spl?" "p.?" "" "0000259657" "00002498" "50" "691" "0" "691" "0" "c.691del" "r.(?)" "p.(His231ThrfsTer30)" "" "0000260971" "00002498" "30" "346" "-14" "346" "-9" "c.346-14_346-9del" "r.(=)" "p.(=)" "" "0000260975" "00002498" "10" "346" "-17" "346" "-10" "c.346-17_346-10del" "r.(=)" "p.(=)" "" "0000260976" "00002498" "10" "346" "-19" "346" "-14" "c.346-19_346-14del" "r.(=)" "p.(=)" "" "0000260977" "00002498" "30" "346" "-15" "346" "-14" "c.346-15_346-14del" "r.(=)" "p.(=)" "" "0000260979" "00002498" "30" "346" "-29" "346" "-12" "c.346-29_346-12del" "r.(=)" "p.(=)" "" "0000260980" "00002498" "70" "426" "0" "426" "0" "c.426C>A" "r.(?)" "p.(Asp142Glu)" "" "0000260981" "00002498" "50" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000260982" "00002498" "30" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000260983" "00002498" "50" "849" "4" "849" "4" "c.849+4A>G" "r.spl?" "p.?" "" "0000262485" "00002498" "10" "-17" "0" "-17" "0" "c.-17A>G" "r.(?)" "p.(=)" "" "0000262486" "00002498" "90" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59Ter)" "" "0000262487" "00002498" "10" "208" "-16" "208" "-16" "c.208-16C>T" "r.(=)" "p.(=)" "" "0000262488" "00002498" "10" "346" "-17" "346" "-10" "c.346-17_346-10del" "r.(=)" "p.(=)" "" "0000262489" "00002498" "30" "652" "-10" "652" "-10" "c.652-10A>T" "r.(=)" "p.(=)" "" "0000262490" "00002498" "30" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000435638" "00002498" "70" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Met)" "4" "0000435640" "00002498" "70" "0" "0" "0" "0" "c.=" "r.=|[5]" "p.=" "_1_9_" "0000435641" "00002498" "30" "-699" "0" "-697" "0" "c.-699_-697del" "r.=" "p.=" "_1" "0000435642" "00002498" "30" "-1170" "0" "-1170" "0" "c.-1170T>C" "r.=" "p.=" "_1" "0000435643" "00002498" "30" "-1276" "0" "-1276" "0" "c.-1276G>T" "r.=" "p.=" "_1" "0000435644" "00002498" "30" "-145" "0" "-145" "0" "c.-145T>C" "r.-145u>c" "p.=" "1" "0000435645" "00002498" "10" "-79" "0" "-79" "0" "c.-79C>T" "r.(?)" "p.(=)" "1" "0000435646" "00002498" "90" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Glu57Gln)" "2" "0000435647" "00002498" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "2" "0000435648" "00002498" "70" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Met)" "4" "0000435649" "00002498" "90" "596" "0" "596" "0" "c.596T>G" "r.(?)" "p.(Leu199Arg)" "6" "0000435650" "00002498" "70" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "8" "0000435651" "00002498" "90" "154" "0" "154" "0" "c.154C>G" "r.(?)" "p.(Pro52Ala)" "2" "0000435652" "00002498" "90" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "4" "0000435653" "00002498" "90" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Ile280Val)" "8" "0000435654" "00002498" "30" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "2" "0000435655" "00002498" "10" "196" "0" "196" "0" "c.196C>A^198A>B" "r.(=)" "p.(Arg66=)" "2" "0000435656" "00002498" "10" "208" "-16" "208" "-16" "c.208-16C>T" "r.(?)" "p.(=)" "2i" "0000435657" "00002498" "10" "346" "-21" "346" "-20" "c.346-21_346-20del" "r.(?)" "p.(=)" "3i" "0000435658" "00002498" "10" "348" "0" "348" "0" "c.348G>H" "r.(=)" "p.(Thr116=)" "4" "0000435659" "00002498" "10" "652" "-13" "652" "-13" "c.652-13del" "r.(?)" "p.(=)" "6i" "0000435660" "00002498" "10" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "8i" "0000435661" "00002498" "10" "849" "6" "849" "6" "c.849+6T>G" "r.spl?" "p.(=)" "8i" "0000435662" "00002498" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "3" "0000435663" "00002498" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "3" "0000435664" "00002498" "90" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Leu)" "3" "0000435665" "00002498" "90" "552" "0" "552" "0" "c.552G>A" "r.spl?" "p.(Met184Ile)" "5" "0000435666" "00002498" "10" "-79" "0" "-79" "0" "c.-79C>T" "r.(?)" "p.(=)" "1" "0000435667" "00002498" "10" "346" "-36" "346" "-36" "c.346-36T>C" "r.(?)" "p.(=)" "4i" "0000435668" "00002498" "10" "0" "0" "0" "0" "c.(453+1_454-1)[del16]" "r.(?)" "p.(=)" "4i" "0000435669" "00002498" "10" "0" "0" "0" "0" "c.(453+1_454-1)[del21]" "r.(?)" "p.(=)" "4i" "0000435670" "00002498" "10" "0" "0" "0" "0" "c.(453+1_454-1)[del26]" "r.(?)" "p.(=)" "4i" "0000435671" "00002498" "10" "652" "-13" "652" "-13" "c.652-13del" "r.(?)" "p.(=)" "7i" "0000435672" "00002498" "10" "1019" "0" "1019" "0" "c.*59A>G" "r.(?)" "p.(=)" "9" "0000435673" "00002498" "10" "108" "0" "108" "0" "c.108T>C" "r.(?)" "p.(=)" "2" "0000435674" "00002498" "10" "-145" "0" "-145" "0" "c.-145T>C" "r.(?)" "p.(=)" "1" "0000435675" "00002498" "90" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.Glu57Gln" "2" "0000435676" "00002498" "70" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.Arg66Gln" "2" "0000435677" "00002498" "90" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.Pro105Ser" "3" "0000435678" "00002498" "90" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.Val107Leu" "3" "0000435679" "00002498" "70" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.Thr116Met" "4" "0000435680" "00002498" "90" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.Thr116Met" "4" "0000435681" "00002498" "90" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.Met184Ile" "5" "0000435682" "00002498" "90" "596" "0" "596" "0" "c.596T>G" "r.(?)" "p.Leu199Arg" "6" "0000435683" "00002498" "90" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.Ala276Val" "8" "0000541538" "00002498" "50" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Leu306Phe)" "" "0000541539" "00002498" "10" "912" "0" "912" "0" "c.912C>T" "r.(?)" "p.(Asp304=)" "" "0000541540" "00002498" "30" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000541541" "00002498" "10" "750" "17" "750" "17" "c.750+17G>A" "r.(=)" "p.(=)" "" "0000541542" "00002498" "30" "750" "17" "750" "17" "c.750+17G>A" "r.(=)" "p.(=)" "" "0000541543" "00002498" "30" "652" "-8" "652" "-8" "c.652-8T>C" "r.(=)" "p.(=)" "" "0000541544" "00002498" "50" "648" "0" "648" "0" "c.648T>A" "r.(?)" "p.(Asp216Glu)" "" "0000541545" "00002498" "10" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Phe)" "" "0000541546" "00002498" "30" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Phe)" "" "0000541547" "00002498" "30" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Phe)" "" "0000541548" "00002498" "30" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Phe)" "" "0000541549" "00002498" "50" "553" "-6" "553" "-6" "c.553-6dup" "r.(=)" "p.(=)" "" "0000541550" "00002498" "50" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0000541551" "00002498" "30" "453" "8" "453" "8" "c.453+8T>C" "r.(=)" "p.(=)" "" "0000541552" "00002498" "50" "449" "0" "449" "0" "c.449A>T" "r.(?)" "p.(Asp150Val)" "" "0000541553" "00002498" "30" "417" "0" "417" "0" "c.417C>A" "r.(?)" "p.(Phe139Leu)" "" "0000541554" "00002498" "10" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000541555" "00002498" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000541556" "00002498" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000541557" "00002498" "30" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000541558" "00002498" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Thr116=)" "" "0000541559" "00002498" "50" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Met)" "" "0000541560" "00002498" "30" "346" "-7" "346" "-7" "c.346-7G>T" "r.(=)" "p.(=)" "" "0000541561" "00002498" "10" "346" "-15" "346" "-14" "c.346-15_346-14insA" "r.(=)" "p.(=)" "" "0000541562" "00002498" "10" "346" "-15" "346" "-15" "c.346-15T>A" "r.(=)" "p.(=)" "" "0000541563" "00002498" "10" "346" "-15" "346" "-15" "c.346-15T>A" "r.(=)" "p.(=)" "" "0000541564" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insA" "r.(=)" "p.(=)" "" "0000541565" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATA" "r.(=)" "p.(=)" "" "0000541566" "00002498" "30" "346" "-16" "346" "-15" "c.346-16_346-15insATA" "r.(=)" "p.(=)" "" "0000541567" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATA" "r.(=)" "p.(=)" "" "0000541568" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATA" "r.(=)" "p.(=)" "" "0000541569" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000541570" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000541571" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000541572" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000541573" "00002498" "10" "346" "-35" "346" "-12" "c.346-35_346-12del" "r.(=)" "p.(=)" "" "0000541574" "00002498" "30" "346" "-35" "346" "-12" "c.346-35_346-12del" "r.(=)" "p.(=)" "" "0000541575" "00002498" "10" "346" "-13" "346" "-10" "c.346-13_346-10dup" "r.(=)" "p.(=)" "" "0000541576" "00002498" "10" "346" "-20" "346" "-19" "c.346-20_346-19insATTTAT" "r.(=)" "p.(=)" "" "0000541577" "00002498" "10" "346" "-36" "346" "-36" "c.346-36T>C" "r.(=)" "p.(=)" "" "0000541578" "00002498" "10" "346" "-27" "346" "-20" "c.346-27_346-20dup" "r.(=)" "p.(=)" "" "0000541579" "00002498" "10" "346" "-25" "346" "-20" "c.346-25_346-20dup" "r.(=)" "p.(=)" "" "0000541580" "00002498" "10" "346" "-23" "346" "-20" "c.346-23_346-20dup" "r.(=)" "p.(=)" "" "0000541581" "00002498" "10" "346" "-21" "346" "-20" "c.346-21_346-20dup" "r.(=)" "p.(=)" "" "0000541582" "00002498" "10" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Leu)" "" "0000541583" "00002498" "30" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Leu)" "" "0000541584" "00002498" "30" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Leu)" "" "0000541585" "00002498" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "" "0000541586" "00002498" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "" "0000541587" "00002498" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "" "0000541588" "00002498" "50" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Asp86His)" "" "0000541589" "00002498" "30" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Asp86His)" "" "0000541590" "00002498" "50" "234" "0" "234" "0" "c.234A>T" "r.(?)" "p.(Arg78Ser)" "" "0000541591" "00002498" "50" "222" "0" "222" "0" "c.222dup" "r.(?)" "p.(Leu75ThrfsTer8)" "" "0000541592" "00002498" "50" "222" "0" "222" "0" "c.222dup" "r.(?)" "p.(Leu75ThrfsTer8)" "" "0000541593" "00002498" "50" "208" "-9" "208" "-6" "c.208-9_208-6del" "r.(=)" "p.(=)" "" "0000541594" "00002498" "10" "208" "-16" "208" "-16" "c.208-16C>T" "r.(=)" "p.(=)" "" "0000541595" "00002498" "10" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "" "0000541596" "00002498" "30" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "" "0000541597" "00002498" "10" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "" "0000541598" "00002498" "10" "196" "0" "196" "0" "c.196C>G" "r.(?)" "p.(Arg66Gly)" "" "0000541599" "00002498" "10" "196" "0" "196" "0" "c.196C>G" "r.(?)" "p.(Arg66Gly)" "" "0000541600" "00002498" "10" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Leu55=)" "" "0000541601" "00002498" "50" "154" "0" "154" "0" "c.154C>G" "r.(?)" "p.(Pro52Ala)" "" "0000541602" "00002498" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000541603" "00002498" "10" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000541604" "00002498" "10" "148" "0" "148" "0" "c.148G>C" "r.(?)" "p.(Ala50Pro)" "" "0000541605" "00002498" "30" "108" "0" "108" "0" "c.108T>C" "r.(?)" "p.(Ala36=)" "" "0000541606" "00002498" "50" "77" "0" "77" "0" "c.77A>C" "r.(?)" "p.(Glu26Ala)" "" "0000541607" "00002498" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Gly16Ser)" "" "0000541608" "00002498" "10" "27" "11" "27" "11" "c.27+11T>C" "r.(=)" "p.(=)" "" "0000541609" "00002498" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000541610" "00002498" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000612798" "00002498" "10" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ala276Val)" "" "0000612799" "00002498" "50" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000612800" "00002498" "10" "552" "18" "552" "18" "c.552+18C>T" "r.(=)" "p.(=)" "" "0000612801" "00002498" "30" "552" "6" "552" "6" "c.552+6T>A" "r.(=)" "p.(=)" "" "0000612802" "00002498" "50" "449" "0" "449" "0" "c.449A>T" "r.(?)" "p.(Asp150Val)" "" "0000612803" "00002498" "50" "388" "0" "388" "0" "c.388G>T" "r.(?)" "p.(Glu130Ter)" "" "0000612804" "00002498" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Thr123=)" "" "0000612805" "00002498" "10" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Thr116=)" "" "0000612806" "00002498" "30" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Met)" "" "0000612807" "00002498" "10" "346" "-25" "346" "-12" "c.346-25_346-12del" "r.(=)" "p.(=)" "" "0000612808" "00002498" "10" "346" "-21" "346" "-20" "c.346-21_346-20dup" "r.(=)" "p.(=)" "" "0000612809" "00002498" "30" "207" "5" "207" "5" "c.207+5G>C" "r.spl?" "p.?" "" "0000612810" "00002498" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(His51=)" "" "0000612811" "00002498" "50" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Leu45Val)" "" "0000612812" "00002498" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Glu19Asp)" "" "0000622461" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATA" "r.(=)" "p.(=)" "" "0000622462" "00002498" "10" "208" "-15" "208" "-15" "c.208-15G>A" "r.(=)" "p.(=)" "" "0000648031" "00002498" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Thr123Met)" "" "0000656603" "00002498" "50" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Thr116Met)" "" "0000678958" "00002498" "30" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66Gln)" "" "0000690837" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000690838" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000690839" "00002498" "10" "346" "-19" "346" "-19" "c.346-19T>A" "r.(=)" "p.(=)" "" "0000690840" "00002498" "30" "346" "-25" "346" "-20" "c.346-25_346-20dup" "r.(=)" "p.(=)" "" "0000690841" "00002498" "30" "319" "0" "319" "0" "c.319G>T" "r.(?)" "p.(Val107Leu)" "" "0000700007" "00002498" "50" "78" "0" "78" "0" "c.78G>C" "r.(?)" "p.(Glu26Asp)" "" "0000700008" "00002498" "50" "373" "0" "374" "0" "c.373_374del" "r.(?)" "p.(Leu125Glufs*7)" "" "0000700009" "00002498" "50" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(His224Tyr)" "" "0000700010" "00002498" "50" "697" "0" "697" "0" "c.697G>C" "r.(?)" "p.(Glu233Gln)" "" "0000723018" "00002498" "50" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "" "0000723019" "00002498" "50" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0000723020" "00002498" "30" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATA" "r.(=)" "p.(=)" "" "0000723021" "00002498" "30" "346" "-33" "346" "-12" "c.346-33_346-12del" "r.(=)" "p.(=)" "" "0000723022" "00002498" "50" "222" "0" "222" "0" "c.222dup" "r.(?)" "p.(Leu75ThrfsTer8)" "" "0000723023" "00002498" "30" "108" "0" "108" "0" "c.108T>C" "r.(?)" "p.(Ala36=)" "" "0000804631" "00002498" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(His294Arg)" "" "0000804632" "00002498" "30" "750" "17" "750" "17" "c.750+17G>A" "r.(=)" "p.(=)" "" "0000804633" "00002498" "50" "505" "0" "505" "0" "c.505G>T" "r.(?)" "p.(Val169Leu)" "" "0000804634" "00002498" "50" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Ala127Pro)" "" "0000852632" "00002498" "30" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Ala226=)" "" "0000852633" "00002498" "10" "453" "17" "453" "17" "c.453+17G>T" "r.(=)" "p.(=)" "" "0000852634" "00002498" "50" "449" "0" "449" "0" "c.449A>T" "r.(?)" "p.(Asp150Val)" "" "0000852635" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000862079" "00002498" "50" "751" "-2" "751" "-2" "c.751-2A>G" "r.spl?" "p.?" "" "0000862080" "00002498" "10" "345" "17" "345" "17" "c.345+17dup" "r.(=)" "p.(=)" "" "0000889320" "00002498" "50" "596" "0" "596" "0" "c.596T>C" "r.(?)" "p.(Leu199Pro)" "" "0000889321" "00002498" "10" "408" "0" "408" "0" "c.408A>G" "r.(?)" "p.(Val136=)" "" "0000889322" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000889323" "00002498" "50" "294" "0" "294" "0" "c.294dup" "r.(?)" "p.(Tyr99IlefsTer5)" "" "0000889324" "00002498" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Glu63Lys)" "" "0000913372" "00002498" "50" "748" "0" "748" "0" "c.748dup" "r.(?)" "p.(Arg250Lysfs*9)" "" "0000913373" "00002498" "50" "449" "0" "449" "0" "c.449A>T" "r.(?)" "p.(Asp150Val)" "" "0000925223" "00002498" "50" "691" "0" "691" "0" "c.691del" "r.(?)" "p.(His231ThrfsTer30)" "" "0000925224" "00002498" "10" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATATATATATATATA" "r.(=)" "p.(=)" "" "0000929726" "00002498" "30" "346" "-16" "346" "-15" "c.346-16_346-15insATATATATATATATA" "r.(=)" "p.(=)" "" "0000929727" "00002498" "10" "346" "-29" "346" "-20" "c.346-29_346-20dup" "r.(=)" "p.(=)" "" "0000949471" "00002498" "50" "943" "0" "943" "0" "c.943C>A" "r.(?)" "p.(Arg315Ser)" "" "0000949472" "00002498" "50" "820" "0" "820" "0" "c.820T>C" "r.(?)" "p.(Tyr274His)" "" "0000949473" "00002498" "50" "595" "0" "595" "0" "c.595C>A" "r.(?)" "p.(Leu199Met)" "" "0000965935" "00002498" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(His158Tyr)" "" "0000965936" "00002498" "10" "346" "-33" "346" "-12" "c.346-33_346-12del" "r.(=)" "p.(=)" "" "0000965937" "00002498" "50" "300" "0" "300" "0" "c.300G>C" "r.(?)" "p.(Arg100Ser)" "" "0000979237" "00002498" "10" "771" "0" "771" "0" "c.771T>C" "r.(?)" "p.(=)" "" "0000979238" "00002498" "10" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(=)" "" "0000989675" "00002498" "50" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "" "0000989937" "00002498" "30" "154" "0" "154" "0" "c.154C>G" "r.(?)" "p.(Pro52Ala)" "" "0000998609" "00002498" "50" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.?" "" "0001014692" "00002498" "50" "554" "0" "554" "0" "c.554T>C" "r.(?)" "p.(Leu185Pro)" "" "0001025800" "00002498" "50" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.?" "" "0001038097" "00002498" "30" "346" "-10" "346" "-9" "c.346-10_346-9del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000109097" "0000175200" "0000129313" "0000218480" "0000206222" "0000435638" "0000206224" "0000435640" "0000206224" "0000435641" "0000206224" "0000435642" "0000206224" "0000435643" "0000206224" "0000435644" "0000206225" "0000435645" "0000206226" "0000435646" "0000206227" "0000435647" "0000206228" "0000435648" "0000206229" "0000435649" "0000206230" "0000435650" "0000206231" "0000435651" "0000206232" "0000435652" "0000206233" "0000435653" "0000206234" "0000435654" "0000206235" "0000435655" "0000206236" "0000435656" "0000206237" "0000435657" "0000206238" "0000435658" "0000206239" "0000435659" "0000206240" "0000435660" "0000206241" "0000435661" "0000206242" "0000435662" "0000206243" "0000435663" "0000206244" "0000435664" "0000206245" "0000435665" "0000206246" "0000435666" "0000206247" "0000435667" "0000206248" "0000435668" "0000206249" "0000435669" "0000206250" "0000435670" "0000206251" "0000435671" "0000206252" "0000435672" "0000206253" "0000435673" "0000206254" "0000435674" "0000291342" "0000648031" "0000317401" "0000700007" "0000317402" "0000700008" "0000317403" "0000700009" "0000317404" "0000700010" "0000454774" "0000989675"