### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANK2) # 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}}" "ANK2" "ankyrin 2, neuronal" "4" "q25-q26" "unknown" "LRG_327" "UD_132118453731" "" "http://www.LOVD.nl/ANK2" "" "1" "493" "287" "106410" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ANK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-11-14 00:00:00" "00006" "2015-01-16 15:58:46" "00000" "2025-07-08 13:22:38" ## 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}}" "00001748" "ANK2" "transcript variant 1" "002" "NM_001148.4" "" "NP_001139.3" "" "" "" "-100" "14143" "11874" "113970785" "114304896" "00000" "2012-11-14 17:24:06" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00404" "LQT" "QT syndrome, long (LQT)" "" "" "" "" "" "00006" "2014-06-06 17:35:42" "00006" "2015-07-04 16:01:55" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02324" "arrhythmia, cardiac" "arrhythmia, cardiac, ankyrin B-related" "AD" "600919" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-06-22 13:54:14" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ANK2" "02324" ## Individuals ## Do not remove or alter this header ## ## Count = 74 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00028976" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "Belgium" ">47y" "0" "" "" "European" "" "00028977" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">38y" "0" "" "" "white" "" "00028984" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Belgium" ">74y" "0" "" "" "European" "" "00028988" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "United States" ">52y" "0" "" "" "white" "" "00028995" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "United States" ">64y" "0" "" "" "white" "" "00043777" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "M" "?" "Denmark" "00y02m" "0" "" "" "Denmark" "" "00064068" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064071" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064072" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064075" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064108" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064123" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064128" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064137" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064140" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064154" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064155" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064171" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064173" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064176" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064180" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064192" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064197" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064208" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064218" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064219" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064226" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064264" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064716" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "42y" "0" "" "" "" "" "00064727" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "32y" "0" "" "" "" "" "00064736" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "46y" "0" "" "" "" "" "00065152" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y05m" "0" "" "" "Europe" "SIDS194" "00065153" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y01m" "0" "" "" "Europe" "SIDS213" "00107535" "" "" "" "7" "" "02147" "{PMID:Yildrim 2018:29581481}" "family, 7 affecteds (3M, 4F), parents first cousins" "M" "yes" "Algeria" ">31y" "0" "Yes" "" "" "FAM53-412" "00128401" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "104" "00128428" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "157" "00128467" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "249" "00128488" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "286" "00148257" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148258" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148259" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148260" "" "" "" "21" "" "00006" "{PMID:Mohler 2003:12571597}" "4-generation family, 21 affecteds" "F;M" "" "United States" "" "0" "" "" "" "12571597-?" "00148261" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148262" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148263" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148264" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148265" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148266" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148267" "" "" "" "1" "" "00006" "{PMID:Mohler 2004:15178757}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "15178757-?" "00148268" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148269" "" "" "" "1" "" "00006" "{PMID:Mohler 2004:15178757}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "15178757-?" "00148270" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148271" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148272" "" "" "" "1" "" "00006" "{PMID:Mohler 2004:15178757}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "15178757-?" "00148273" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148274" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148275" "" "" "" "1" "" "00006" "{PMID:Mohler 2004:15178757}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "15178757-?" "00148276" "" "" "" "1" "" "00006" "{PMID:Sherman J 2005:16253912}" "{cardmoc:ANK2mut}" "" "" "" "" "0" "" "" "" "16253912-?" "00148277" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148278" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148279" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148280" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00148281" "" "" "" "1" "" "00006" "{PMID:Mank-Seymour 2006:17161064}" "{cardmoc:ANK2mut}" "" "" "United States" "" "0" "" "" "" "17161064-?" "00269930" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00271367" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00293521" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293522" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293523" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293524" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293525" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293527" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315504" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS112" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00028976" "04170" "00028977" "04170" "00028984" "04170" "00028988" "04170" "00028995" "04170" "00043777" "02087" "00064068" "00351" "00064071" "00351" "00064072" "00351" "00064075" "00351" "00064108" "00351" "00064123" "00351" "00064128" "00351" "00064137" "00351" "00064140" "00351" "00064154" "00351" "00064155" "00351" "00064171" "00351" "00064173" "00351" "00064176" "00351" "00064180" "00351" "00064192" "00351" "00064197" "00351" "00064208" "00351" "00064218" "00351" "00064219" "00351" "00064226" "00351" "00064264" "00351" "00064716" "05166" "00064727" "05166" "00064736" "05166" "00065152" "02087" "00065153" "02087" "00107535" "00201" "00107535" "04227" "00128401" "00198" "00128428" "00198" "00128467" "00198" "00128488" "00198" "00148257" "00198" "00148258" "00198" "00148259" "00198" "00148260" "00404" "00148261" "00000" "00148262" "00198" "00148263" "00198" "00148264" "00198" "00148265" "00000" "00148266" "00198" "00148267" "00198" "00148268" "00198" "00148269" "00198" "00148270" "00000" "00148271" "00198" "00148272" "00198" "00148273" "00198" "00148274" "00000" "00148275" "00198" "00148276" "00198" "00148277" "00198" "00148278" "00198" "00148279" "00198" "00148280" "00198" "00148281" "00198" "00269930" "00198" "00271367" "00198" "00293521" "00198" "00293522" "00198" "00293523" "00198" "00293524" "00198" "00293525" "00198" "00293527" "00198" "00315504" "05166" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00201, 00351, 00404, 01157, 02087, 02324, 04170, 04227, 05166 ## Count = 62 "{{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}}" "0000025004" "00118" "00028976" "00066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025005" "00118" "00028977" "00066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000050584" "00351" "00064068" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050587" "00351" "00064071" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050588" "00351" "00064072" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050591" "00351" "00064075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050624" "00351" "00064108" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050639" "00351" "00064123" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050644" "00351" "00064128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050653" "00351" "00064137" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050656" "00351" "00064140" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050670" "00351" "00064154" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050671" "00351" "00064155" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050687" "00351" "00064171" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050689" "00351" "00064173" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050692" "00351" "00064176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050696" "00351" "00064180" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050708" "00351" "00064192" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050713" "00351" "00064197" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050724" "00351" "00064208" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050734" "00351" "00064218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050735" "00351" "00064219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050742" "00351" "00064226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050780" "00351" "00064264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050822" "02087" "00043777" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000051257" "02087" "00065152" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051258" "02087" "00065153" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000053244" "05166" "00064716" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053254" "05166" "00064727" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053262" "05166" "00064736" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085328" "04227" "00107535" "02147" "Familial, autosomal recessive" "" "Symphalangism of the thumb (HP:0009656), symphalangism of the 2nd finger (HP:0009545), symphalangism of the 3rd finger (HP:0009445), no symphalangism of the 4th finger (-HP:0009857), symphalangism of the 5th finger (HP:0004218), thumb brachydactyly (HP:0009778), short 2nd finger (HP:0009536), 5th finger brachydactyly (HP:0009237), camptodactyly of the 3rd finger (HP:0009471), crowded carpal bones (HP:0006180), short hallux (HP:0010109), broad hallux (HP:0010055), hallux valgus (HP:0001822), 2-3 toe syndactyly (HP:0004691), no camptodactyly of toe (-HP:0001836), duplication of the phalanges of the 2nd toe (HP:0010355), aplasia/hypoplasia of the phalanges of the toes (HP:0010173)" "" "" "yeserin@gmail.com" "" "" "" "" "" "" "" "" "0000100617" "00198" "00128401" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100647" "00198" "00128428" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100689" "00198" "00128467" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100712" "00198" "00128488" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000106396" "00201" "00107535" "02147" "Familial, autosomal recessive" "" "male infertility (HP:0003251), azoospemia (HP:0000027)" "" "" "yeserin@gmail.com" "" "" "" "" "" "SPGF70" "" "" "0000120751" "00198" "00148257" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120752" "00198" "00148258" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120753" "00198" "00148259" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120755" "00198" "00148262" "00006" "Unknown" "" "Syncope, U waves, sinus bradycardia" "" "" "" "" "" "" "" "" "" "" "" "0000120756" "00198" "00148263" "00006" "Unknown" "" "Syncope, sinus braadicardia" "" "" "" "" "" "" "" "" "" "" "" "0000120757" "00198" "00148264" "00006" "Unknown" "" "Bordeline, prolonged QT, syncope and cardiac arrest" "" "" "" "" "" "" "" "" "" "" "" "0000120758" "00198" "00148266" "00006" "Unknown" "" "Cardiac arrest during sleep" "" "" "" "" "" "" "" "" "" "" "" "0000120759" "00198" "00148267" "00006" "Unknown" "" "Polymorphic VT, Syncope, atypical T wasve, normal QT" "" "" "" "" "" "" "" "" "" "" "" "0000120760" "00198" "00148268" "00006" "Unknown" "" "Polymorphic VT, Syncope, atypical T wasve, normal QT" "" "" "" "" "" "" "" "" "" "" "" "0000120761" "00198" "00148269" "00006" "Unknown" "" "Long QT, SCD" "" "" "" "" "" "" "" "" "" "" "" "0000120762" "00198" "00148271" "00006" "Unknown" "" "Syncope, U waves" "" "" "" "" "" "" "" "" "" "" "" "0000120763" "00198" "00148272" "00006" "Unknown" "" "Syncope, long QT, sinus bradycardia" "" "" "" "" "" "" "" "" "" "" "" "0000120764" "00198" "00148273" "00006" "Unknown" "" "Syncope, long QT, sinus bradycardia" "" "" "" "" "" "" "" "" "" "" "" "0000120765" "00198" "00148275" "00006" "Unknown" "" "Arrhythmias, Idiopathic Ventricular Fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000120766" "00198" "00148276" "00006" "Unknown" "" "Arrhythmias, Idiopathic Ventricular Fibrillation" "" "" "" "" "" "" "" "" "" "" "" "0000120767" "00198" "00148277" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120768" "00198" "00148278" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120769" "00198" "00148279" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120770" "00198" "00148280" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120771" "00198" "00148281" "00006" "Unknown" "" "Torsades de Pointes" "" "" "" "" "" "" "" "" "" "" "" "0000120800" "00404" "00148260" "00006" "Familial, autosomal dominant" "" "LQT-4 cardiac arrhythmia and sudden cardiac death" "" "" "" "" "" "" "" "" "" "" "" "0000207726" "00198" "00269930" "01164" "Unknown" "" "Prolonged QT interval (HP:0001657)" "" "" "" "" "" "" "" "" "" "" "" "0000207974" "00198" "00271367" "01164" "Unknown" "" "Breast carcinoma (HP:0003002); Myalgia (HP:0003326); Concentric hypertrophic cardiomyopathy (HP:0005157)" "" "" "" "" "" "" "" "" "" "" "" "0000322117" "05166" "00315504" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 74 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000029017" "00028976" "1" "00066" "00066" "2015-01-12 12:10:23" "" "" "SEQ" "DNA" "" "" "0000029018" "00028977" "1" "00066" "00066" "2015-01-12 15:36:13" "" "" "SEQ" "DNA" "" "" "0000029025" "00028984" "1" "00066" "00066" "2015-01-12 16:28:19" "" "" "SEQ" "DNA" "" "" "0000029029" "00028988" "1" "00066" "00066" "2015-01-13 09:17:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000029036" "00028995" "1" "00066" "00066" "2015-01-13 17:01:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000044020" "00043777" "1" "01337" "01337" "2015-06-19 13:58:55" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000064201" "00064068" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064204" "00064071" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064205" "00064072" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064208" "00064075" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064241" "00064108" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064256" "00064123" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064261" "00064128" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064270" "00064137" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064273" "00064140" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064287" "00064154" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064288" "00064155" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064304" "00064171" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064306" "00064173" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064309" "00064176" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064313" "00064180" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064325" "00064192" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064330" "00064197" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064341" "00064208" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064351" "00064218" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064352" "00064219" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064359" "00064226" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064397" "00064264" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064855" "00064716" "1" "01601" "01601" "2016-05-10 11:48:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000064866" "00064727" "1" "01601" "01601" "2016-05-10 12:30:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000064875" "00064736" "1" "01601" "01601" "2016-05-10 12:47:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000065303" "00065152" "1" "01602" "01602" "2016-05-19 14:49:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000065304" "00065153" "1" "01602" "01602" "2016-05-19 14:51:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000108007" "00107535" "1" "02147" "02147" "2017-07-12 20:22:48" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "whole blood" "" "0000129239" "00128401" "1" "02244" "02244" "2017-09-15 15:43:27" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129266" "00128428" "1" "02244" "02244" "2017-09-15 16:51:44" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129305" "00128467" "1" "02244" "02244" "2017-09-15 18:16:42" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129326" "00128488" "1" "02244" "02244" "2017-09-15 19:04:29" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000149112" "00148257" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149113" "00148258" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149114" "00148259" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149115" "00148260" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149116" "00148261" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149117" "00148262" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149118" "00148263" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149119" "00148264" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149120" "00148265" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149121" "00148266" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149122" "00148267" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149123" "00148268" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149124" "00148269" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149125" "00148270" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149126" "00148271" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149127" "00148272" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149128" "00148273" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149129" "00148274" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149130" "00148275" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149131" "00148276" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149132" "00148277" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149133" "00148278" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149134" "00148279" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149135" "00148280" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000149136" "00148281" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000271083" "00269930" "1" "01164" "01164" "2019-12-10 12:33:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000272518" "00271367" "1" "01164" "01164" "2019-12-18 16:26:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000294689" "00293521" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294690" "00293522" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294691" "00293523" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294692" "00293524" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294693" "00293525" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294695" "00293527" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325858" "00315504" "1" "01602" "01602" "2020-12-21 14:07:01" "01602" "2023-02-15 09:46:54" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000064201" "TTN" "0000064204" "TTN" "0000064205" "TTN" "0000064208" "TTN" "0000064241" "TTN" "0000064256" "TTN" "0000064261" "TTN" "0000064270" "TTN" "0000064273" "TTN" "0000064287" "TTN" "0000064288" "TTN" "0000064304" "TTN" "0000064306" "TTN" "0000064309" "TTN" "0000064313" "TTN" "0000064325" "TTN" "0000064330" "TTN" "0000064341" "TTN" "0000064351" "TTN" "0000064352" "TTN" "0000064359" "TTN" "0000064397" "ANK2" "0000149112" "ANK2" "0000149113" "ANK2" "0000149114" "ANK2" "0000149115" "ANK2" "0000149116" "ANK2" "0000149117" "ANK2" "0000149118" "ANK2" "0000149119" "ANK2" "0000149120" "ANK2" "0000149121" "ANK2" "0000149122" "ANK2" "0000149123" "ANK2" "0000149124" "ANK2" "0000149125" "ANK2" "0000149126" "ANK2" "0000149127" "ANK2" "0000149128" "ANK2" "0000149129" "ANK2" "0000149130" "ANK2" "0000149131" "ANK2" "0000149132" "ANK2" "0000149133" "ANK2" "0000149134" "ANK2" "0000149135" "ANK2" "0000149136" "ANK2" ## 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 = 618 "{{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}}" "0000002354" "0" "30" "4" "114135113" "114135114" "ins" "0" "00037" "ANK2_000062" "g.114135113_114135114insAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113213957_113213958insAT" "" "likely benign" "" "0000010394" "0" "30" "4" "114135113" "114135114" "ins" "0" "00037" "ANK2_000061" "g.114135113_114135114insA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113213957_113213958insA" "" "likely benign" "" "0000052351" "1" "50" "4" "114278617" "114278617" "subst" "0.000219827" "00066" "ANK2_000063" "g.114278617C>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "yes" "rs138438183" "0" "" "" "g.113357461C>G" "" "VUS" "" "0000052353" "0" "10" "4" "114276906" "114276906" "subst" "0.00229423" "00066" "ANK2_000064" "g.114276906G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs141191319" "0" "" "" "g.113355750G>A" "" "benign" "" "0000052354" "0" "50" "4" "114277108" "114277108" "subst" "4.07209E-6" "00066" "ANK2_000068" "g.114277108A>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.113355952A>G" "" "VUS" "" "0000052366" "0" "50" "4" "114262864" "114262864" "subst" "4.06478E-6" "00066" "ANK2_000069" "g.114262864G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "" "0" "" "" "g.113341708G>A" "" "VUS" "" "0000052371" "0" "50" "4" "114275532" "114275532" "subst" "7.74196E-5" "00066" "ANK2_000067" "g.114275532G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs140189724" "0" "" "" "g.113354376G>A" "" "VUS" "" "0000052377" "1" "10" "4" "114251446" "114251446" "subst" "1.62555E-5" "00066" "ANK2_000066" "g.114251446G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "" "0" "" "" "g.113330290G>A" "" "benign" "" "0000071824" "0" "70" "4" "114269433" "114269433" "subst" "0.000528804" "01337" "ANK2_000065" "g.114269433A>G" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "" "Germline" "?" "" "0" "" "" "g.113348277A>G" "" "likely pathogenic" "" "0000095187" "0" "50" "4" "114276906" "114276906" "subst" "0.00229423" "00006" "ANK2_000064" "g.114276906G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G7132A" "" "Germline" "" "" "0" "" "" "g.113355750G>A" "" "VUS" "" "0000095196" "0" "50" "4" "114269433" "114269433" "subst" "0.000528804" "00006" "ANK2_000072" "g.114269433A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.A4373G" "" "Germline" "" "" "0" "" "" "g.113348277A>G" "" "VUS" "" "0000095199" "0" "50" "4" "114279646" "114279646" "subst" "0" "00006" "ANK2_000084" "g.114279646C>G" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C9872G" "" "Germline" "" "" "0" "" "" "g.113358490C>G" "" "VUS" "" "0000095210" "0" "50" "4" "114276657" "114276657" "subst" "4.09423E-6" "00006" "ANK2_000083" "g.114276657A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.A6883G" "" "Germline" "" "" "0" "" "" "g.113355501A>G" "" "VUS" "" "0000095333" "0" "50" "4" "114239695" "114239695" "subst" "0.000704093" "00006" "ANK2_000085" "g.114239695C>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C2819G" "" "Germline" "" "" "0" "" "" "g.113318539C>G" "" "VUS" "" "0000095403" "0" "50" "4" "114244911" "114244911" "subst" "0.00011847" "00006" "ANK2_000071" "g.114244911G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001127493.1:c.2838-4G>A" "" "Germline" "" "" "0" "" "" "g.113323755G>A" "" "VUS" "" "0000095419" "0" "50" "4" "114274519" "114274519" "subst" "0.000716828" "00006" "ANK2_000073" "g.114274519G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G4745A" "" "Germline" "" "" "0" "" "" "g.113353363G>A" "" "VUS" "" "0000095452" "0" "50" "4" "114275005" "114275005" "subst" "2.04335E-5" "00006" "ANK2_000086" "g.114275005C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C5231T" "" "Germline" "" "" "0" "" "" "g.113353849C>T" "" "VUS" "" "0000095461" "0" "50" "4" "114275688" "114275688" "subst" "8.13842E-6" "00006" "ANK2_000087" "g.114275688C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C5914A" "" "Germline" "" "" "0" "" "" "g.113354532C>A" "" "VUS" "" "0000095462" "0" "50" "4" "114294537" "114294537" "subst" "0.0028544" "00006" "ANK2_000079" "g.114294537G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G5536A (E1846K)" "" "Germline" "" "" "0" "" "" "g.113373381G>A" "" "VUS" "" "0000095502" "0" "50" "4" "114275005" "114275005" "subst" "6.53873E-5" "00006" "ANK2_000074" "g.114275005C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C5231A" "" "Germline" "" "" "0" "" "" "g.113353849C>A" "" "VUS" "" "0000095507" "0" "50" "4" "114294537" "114294537" "subst" "0.0028544" "00006" "ANK2_000079" "g.114294537G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G5536A (E1846K)" "" "Germline" "" "" "0" "" "" "g.113373381G>A" "" "VUS" "" "0000095570" "0" "50" "4" "114275005" "114275005" "subst" "2.04335E-5" "00006" "ANK2_000086" "g.114275005C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C5231T" "" "Germline" "" "" "0" "" "" "g.113353849C>T" "" "VUS" "" "0000095576" "0" "50" "4" "114294462" "114294462" "subst" "0.0010088" "00006" "ANK2_000078" "g.114294462C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C5461T (R1821W)" "" "Germline" "" "" "0" "" "" "g.113373306C>T" "" "VUS" "" "0000095588" "0" "50" "4" "114276906" "114276906" "subst" "0.00229423" "00006" "ANK2_000064" "g.114276906G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G7132A" "" "Germline" "" "" "0" "" "" "g.113355750G>A" "" "VUS" "" "0000095601" "0" "50" "4" "114278014" "114278014" "subst" "0.000553823" "00006" "ANK2_000076" "g.114278014G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G8240A" "" "Germline" "" "" "0" "" "" "g.113356858G>A" "" "VUS" "" "0000095632" "0" "50" "4" "114286207" "114286207" "subst" "0.00241852" "00006" "ANK2_000077" "g.114286207T>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.T4646A (V1549D)" "" "Germline" "" "" "0" "" "" "g.113365051T>A" "" "VUS" "" "0000095649" "0" "50" "4" "114294537" "114294537" "subst" "0.0028544" "00006" "ANK2_000079" "g.114294537G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G5536A (E1846K)" "" "Germline" "" "" "0" "" "" "g.113373381G>A" "" "VUS" "" "0000095685" "0" "50" "4" "114269433" "114269433" "subst" "0.000528804" "00006" "ANK2_000072" "g.114269433A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.A4373G" "" "Germline" "" "" "0" "" "" "g.113348277A>G" "" "VUS" "" "0000095718" "0" "50" "4" "114274806" "114274806" "subst" "3.66133E-5" "00006" "ANK2_000090" "g.114274806G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.G5032A" "" "Germline" "" "" "0" "" "" "g.113353650G>A" "" "VUS" "" "0000095721" "0" "50" "4" "114276957" "114276957" "subst" "0.000179339" "00006" "ANK2_000075" "g.114276957A>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.A7183C" "" "Germline" "" "" "0" "" "" "g.113355801A>C" "" "VUS" "" "0000095743" "0" "50" "4" "114276891" "114276891" "subst" "0.000448021" "00006" "ANK2_000088" "g.114276891A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.A7117G" "" "Germline" "" "" "0" "" "" "g.113355735A>G" "" "VUS" "" "0000095789" "1" "50" "4" "114278128" "114278128" "subst" "0.00162145" "00006" "ANK2_000089" "g.114278128C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001148:c.C8354T" "" "Germline" "" "" "0" "" "" "g.113356972C>T" "" "VUS" "" "0000096506" "0" "50" "4" "114286207" "114286207" "subst" "0.00241852" "01601" "ANK2_000077" "g.114286207T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113365051T>A" "" "VUS" "" "0000096519" "0" "50" "4" "114277863" "114277863" "subst" "0" "01601" "ANK2_000082" "g.114277863T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113356707T>C" "" "VUS" "" "0000096528" "0" "50" "4" "114213620" "114213620" "subst" "0" "01601" "ANK2_000081" "g.114213620A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113292464A>G" "" "VUS" "" "0000096980" "0" "50" "4" "114269433" "114269433" "subst" "0.000528804" "01602" "ANK2_000065" "g.114269433A>G" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs72544141" "0" "" "" "g.113348277A>G" "" "VUS" "" "0000096981" "0" "50" "4" "114177036" "114177036" "subst" "0.000101595" "01602" "ANK2_000080" "g.114177036G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs186264035" "0" "" "" "g.113255880G>T" "" "VUS" "" "0000218380" "0" "50" "4" "114253204" "114253204" "subst" "0" "02244" "ANK2_000093" "g.114253204C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.113332048C>T" "" "VUS" "" "0000218415" "0" "50" "4" "114179276" "114179276" "subst" "0" "02244" "ANK2_000091" "g.114179276A>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.113258120A>T" "" "VUS" "" "0000218468" "0" "50" "4" "114199662" "114199662" "subst" "0.000134044" "02244" "ANK2_000092" "g.114199662A>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.113278506A>T" "" "VUS" "" "0000218498" "0" "90" "4" "114294462" "114294462" "subst" "0.0010088" "02244" "ANK2_000078" "g.114294462C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.113373306C>T" "" "pathogenic" "" "0000223727" "0" "30" "4" "114277725" "114277725" "subst" "3.66709E-5" "02147" "ANK2_000094" "g.114277725G>C" "" "{PMID:Yildrim 2018:29581481}" "" "" "" "Germline" "?" "" "0" "" "" "g.113356569G>C" "" "likely benign" "" "0000242416" "0" "50" "4" "114186089" "114186089" "subst" "0" "00006" "ANK2_000109" "g.114186089G>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "G475R rs36210415" "{cardmoc:ank2mut}" "Germline" "" "rs36210415" "0" "" "" "g.113264933G>A" "" "VUS" "" "0000242417" "0" "50" "4" "114204009" "114204009" "subst" "4.47427E-5" "00006" "ANK2_000095" "g.114204009A>G" "" "{PMID:Mank-Seymour 2006:17161064}" "" "N687S" "{cardmoc:ank2mut}" "Germline" "" "" "0" "" "" "g.113282853A>G" "" "VUS" "" "0000242418" "0" "50" "4" "114208803" "114208803" "subst" "0" "00006" "ANK2_000110" "g.114208803G>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "V708M" "{cardmoc:ank2mut}" "Germline" "" "rs361020416" "0" "" "" "g.113287647G>A" "" "VUS" "" "0000242419" "1" "90" "4" "114269433" "114269433" "subst" "0.000528804" "00006" "ANK2_000065" "g.114269433A>G" "" "{PMID:Mohler 2003:12571597}" "" "E1425G" "{cardmoc:ank2mut}" "Germline" "yes" "" "0" "" "" "g.113348277A>G" "" "pathogenic" "" "0000242420" "0" "90" "4" "114267155" "114267155" "subst" "0" "00006" "ANK2_000096" "g.114267155C>T" "" "{PMID:Sherman J 2005:16253912}" "" "C4348T" "{cardmoc:ank2mut} (variantchecker): C not found at position 4448, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242421" "0" "90" "4" "114267161" "114267161" "subst" "0" "00006" "ANK2_000097" "g.114267161G>A" "" "{PMID:Sherman J 2005:16253912}" "" "G4354A" "{cardmoc:ank2mut} (variantchecker): G not found at position 4454, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242422" "0" "90" "4" "114274281" "114274281" "subst" "0" "00006" "ANK2_000098" "g.114274281C>G" "" "{PMID:Sherman J 2005:16253912}" "" "C4507G" "{cardmoc:ank2mut} (variantchecker): C not found at position 4607, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242423" "0" "90" "4" "114274320" "114274320" "subst" "0" "00006" "ANK2_000099" "g.114274320G>A" "" "{PMID:Sherman J 2005:16253912}" "" "G4546A" "{cardmoc:ank2mut} (variantchecker): G not found at position 4646, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242424" "0" "90" "4" "114274429" "114274429" "subst" "0" "00006" "ANK2_000100" "g.114274429C>A" "" "{PMID:Sherman J 2005:16253912}" "" "C4655A" "{cardmoc:ank2mut} (variantchecker): C not found at position 4755, found T instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242425" "0" "90" "4" "114274506" "114274506" "subst" "0" "00006" "ANK2_000101" "g.114274506G>A" "" "{PMID:Sherman J 2005:16253912}" "" "G4732A" "{cardmoc:ank2mut}" "Germline" "" "" "0" "" "" "g.113353350G>A" "" "pathogenic" "" "0000242426" "0" "90" "4" "114274638" "114274638" "subst" "0" "00006" "ANK2_000102" "g.114274638C>A" "" "{PMID:Mohler 2004:15178757}" "" "C4864A" "{cardmoc:ank2mut} (variantchecker): C not found at position 4964, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242427" "0" "90" "4" "114274638" "114274638" "subst" "0" "00006" "ANK2_000102" "g.114274638C>A" "" "{PMID:Sherman J 2005:16253912}" "" "C4864A" "{cardmoc:ank2mut} (variantchecker): C not found at position 4964, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242428" "0" "90" "4" "114274651" "114274651" "subst" "0" "00006" "ANK2_000103" "g.114274651C>A" "" "{PMID:Mohler 2004:15178757}" "" "C4877A" "{cardmoc:ank2mut} (variantchecker): C not found at position 4977, found A instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242429" "0" "90" "4" "114274936" "114274936" "subst" "0" "00006" "ANK2_000104" "g.114274936G>C" "" "{PMID:Sherman J 2005:16253912}" "" "G5162C" "{cardmoc:ank2mut} (variantchecker): G not found at position 5262, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242430" "0" "90" "4" "114274951" "114274951" "subst" "0" "00006" "ANK2_000105" "g.114274951C>A" "" "{PMID:Sherman J 2005:16253912}" "" "C5177A" "{cardmoc:ank2mut}" "Germline" "" "" "0" "" "" "g.113353795C>A" "" "pathogenic" "" "0000242431" "0" "90" "4" "114275137" "114275137" "subst" "0" "00006" "ANK2_000106" "g.114275137C>T" "" "{PMID:Mohler 2004:15178757}" "" "C5363T" "{cardmoc:ank2mut}" "Germline" "" "" "0" "" "" "g.113353981C>T" "" "pathogenic" "" "0000242432" "0" "90" "4" "114275137" "114275137" "subst" "0" "00006" "ANK2_000106" "g.114275137C>T" "" "{PMID:Sherman J 2005:16253912}" "" "C5363T" "{cardmoc:ank2mut}" "Germline" "" "" "0" "" "" "g.113353981C>T" "" "pathogenic" "" "0000242433" "0" "90" "4" "114275145" "114275145" "subst" "0" "00006" "ANK2_000107" "g.114275145T>C" "" "{PMID:Sherman J 2005:16253912}" "" "T5371C" "{cardmoc:ank2mut} (variantchecker): T not found at position 5471, found G instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242434" "0" "90" "4" "114275211" "114275211" "subst" "0" "00006" "ANK2_000108" "g.114275211G>A" "" "{PMID:Mohler 2004:15178757}" "" "G5437A" "{cardmoc:ank2mut} (variantchecker): G not found at position 5537, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242435" "0" "90" "4" "114275211" "114275211" "subst" "0" "00006" "ANK2_000108" "g.114275211G>A" "" "{PMID:Sherman J 2005:16253912}" "" "G5437A" "{cardmoc:ank2mut} (variantchecker): G not found at position 5537, found C instead.\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000242436" "0" "50" "4" "114276880" "114276880" "subst" "0.0943216" "00006" "ANK2_000111" "g.114276880T>C" "" "{PMID:Mank-Seymour 2006:17161064}" "" "V2369A" "{cardmoc:ank2mut}" "Germline" "" "rs28377576" "0" "" "" "g.113355724T>C" "" "VUS" "" "0000242437" "0" "50" "4" "114277041" "114277041" "subst" "0.000696339" "00006" "ANK2_000112" "g.114277041G>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "" "{cardmoc:ank2mut}" "Germline" "" "rs3733616" "0" "" "" "g.113355885G>A" "" "VUS" "" "0000242438" "0" "50" "4" "114278277" "114278277" "subst" "0.0856126" "00006" "ANK2_000113" "g.114278277C>T" "" "{PMID:Mank-Seymour 2006:17161064}" "" "P2836S" "{cardmoc:ank2mut}" "Germline" "" "rs3733617" "0" "" "" "g.113357121C>T" "" "VUS" "" "0000242439" "0" "50" "4" "114279628" "114279628" "subst" "0.00866802" "00006" "ANK2_000114" "g.114279628T>C" "" "{PMID:Mank-Seymour 2006:17161064}" "" "I3285T" "{cardmoc:ank2mut}" "Germline" "" "rs36210417" "0" "" "" "g.113358472T>C" "" "VUS" "" "0000242440" "0" "50" "4" "114279674" "114279674" "subst" "0.019288" "00006" "ANK2_000115" "g.114279674C>A" "" "{PMID:Mank-Seymour 2006:17161064}" "" "S3300R" "{cardmoc:ank2mut}" "Germline" "" "rs34270799" "0" "" "" "g.113358518C>A" "" "VUS" "" "0000246214" "0" "10" "4" "114186067" "114186067" "subst" "0.00244384" "02330" "ANK2_000126" "g.114186067A>G" "" "" "" "ANK2(NM_001148.4):c.1401A>G (p.A467=), ANK2(NM_001148.6):c.1401A>G (p.A467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264911A>G" "" "benign" "" "0000246224" "0" "50" "4" "114269433" "114269433" "subst" "0.000528804" "02330" "ANK2_000065" "g.114269433A>G" "" "" "" "ANK2(NM_001148.4):c.4373A>G (p.E1458G), ANK2(NM_001148.6):c.4373A>G (p.(Glu1458Gly)), ANK2(NM_001386174.1):c.4514A>G (p.E1505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113348277A>G" "" "VUS" "" "0000246226" "0" "10" "4" "114276884" "114276884" "subst" "0.181608" "02330" "ANK2_000174" "g.114276884A>G" "" "" "" "ANK2(NM_001148.6):c.7110A>G (p.Q2370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355728A>G" "" "benign" "" "0000246227" "0" "10" "4" "114279422" "114279422" "subst" "0.0944108" "02330" "ANK2_000201" "g.114279422A>G" "" "" "" "ANK2(NM_001148.6):c.9648A>G (p.E3216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358266A>G" "" "benign" "" "0000246235" "0" "10" "4" "114257132" "114257132" "subst" "0.00778625" "02330" "ANK2_000142" "g.114257132A>G" "" "" "" "ANK2(NM_001148.6):c.3510A>G (p.V1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113335976A>G" "" "benign" "" "0000246236" "0" "10" "4" "114267094" "114267094" "subst" "9.35225E-5" "02330" "ANK2_000151" "g.114267094A>G" "" "" "" "ANK2(NM_001148.4):c.4287A>G (p.S1429=), ANK2(NM_001148.6):c.4287A>G (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113345938A>G" "" "benign" "" "0000246237" "0" "10" "4" "114277262" "114277262" "subst" "0.000660691" "02330" "ANK2_000179" "g.114277262A>G" "" "" "" "ANK2(NM_001148.4):c.7488A>G (p.T2496=), ANK2(NM_001148.6):c.7488A>G (p.T2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356106A>G" "" "benign" "" "0000246238" "0" "10" "4" "114277838" "114277838" "subst" "0" "02330" "ANK2_000184" "g.114277838A>T" "" "" "" "ANK2(NM_001148.6):c.8064A>T (p.R2688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356682A>T" "" "benign" "" "0000246239" "0" "10" "4" "114290688" "114290688" "subst" "0" "02330" "ANK2_000236" "g.114290688A>G" "" "" "" "ANK2(NM_001148.6):c.11337A>G (p.T3779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113369532A>G" "" "benign" "" "0000246240" "0" "10" "4" "114294287" "114294287" "subst" "2.44115E-5" "02330" "ANK2_000239" "g.114294287A>G" "" "" "" "ANK2(NM_001148.6):c.11652A>G (p.E3884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373131A>G" "" "benign" "" "0000246241" "0" "10" "4" "114294293" "114294293" "subst" "4.06732E-6" "02330" "ANK2_000240" "g.114294293A>G" "" "" "" "ANK2(NM_001148.6):c.11658A>G (p.E3886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373137A>G" "" "benign" "" "0000246255" "0" "10" "4" "114279060" "114279060" "subst" "0.000563008" "02330" "ANK2_000199" "g.114279060A>G" "" "" "" "ANK2(NM_001148.6):c.9286A>G (p.S3096G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357904A>G" "" "benign" "" "0000246259" "0" "10" "4" "114208878" "114208878" "subst" "8.18552E-6" "02330" "ANK2_000129" "g.114208878A>G" "" "" "" "ANK2(NM_001148.6):c.2178+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113287722A>G" "" "benign" "" "0000246260" "0" "10" "4" "114294421" "114294421" "subst" "0" "02330" "ANK2_000242" "g.114294421A>G" "" "" "" "ANK2(NM_001148.6):c.11695-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373265A>G" "" "benign" "" "0000246267" "0" "30" "4" "114277226" "114277226" "subst" "8.1582E-6" "02330" "ANK2_000178" "g.114277226A>G" "" "" "" "ANK2(NM_001148.6):c.7452A>G (p.P2484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356070A>G" "" "likely benign" "" "0000246268" "0" "30" "4" "114278846" "114278846" "subst" "4.07378E-6" "02330" "ANK2_000196" "g.114278846A>C" "" "" "" "ANK2(NM_001148.6):c.9072A>C (p.T3024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357690A>C" "" "likely benign" "" "0000246273" "0" "30" "4" "114278753" "114278753" "subst" "0.000134285" "02330" "ANK2_000193" "g.114278753A>G" "" "" "" "ANK2(NM_001148.6):c.8979A>G (p.I2993M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357597A>G" "" "likely benign" "" "0000246276" "0" "30" "4" "114302617" "114302617" "subst" "0.000809674" "02330" "ANK2_000245" "g.114302617A>G" "" "" "" "ANK2(NM_001148.4):c.11864A>G (p.(Asn3955Ser), p.N3955S), ANK2(NM_001148.6):c.11864A>G (p.N3955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113381461A>G" "" "likely benign" "" "0000246283" "0" "50" "4" "114276610" "114276610" "subst" "8.23025E-6" "02330" "ANK2_000170" "g.114276610A>G" "" "" "" "ANK2(NM_001148.6):c.6836A>G (p.H2279R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355454A>G" "" "VUS" "" "0000246284" "0" "50" "4" "114179296" "114179296" "subst" "1.62755E-5" "02330" "ANK2_000250" "g.114179296A>G" "" "" "" "ANK2(NM_001148.6):c.1279A>G (p.I427V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113258140A>G" "" "VUS" "" "0000246290" "0" "30" "4" "114209614" "114209614" "subst" "0.000276205" "02330" "ANK2_000130" "g.114209614A>G" "" "" "" "ANK2(NM_001148.4):c.2249A>G (p.Q750R, p.(Gln750Arg)), ANK2(NM_001148.6):c.2249A>G (p.Q750R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113288458A>G" "" "likely benign" "" "0000246293" "0" "50" "4" "114279453" "114279453" "subst" "0.00012641" "02330" "ANK2_000202" "g.114279453A>C" "" "" "" "ANK2(NM_001148.6):c.9679A>C (p.T3227P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358297A>C" "" "VUS" "" "0000246294" "0" "50" "4" "114294276" "114294276" "subst" "1.62821E-5" "02330" "ANK2_000238" "g.114294276A>G" "" "" "" "ANK2(NM_001148.6):c.11641A>G (p.T3881A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373120A>G" "" "VUS" "" "0000248359" "0" "10" "4" "114276884" "114276884" "subst" "0.181608" "02325" "ANK2_000174" "g.114276884A>G" "" "" "" "ANK2(NM_001148.6):c.7110A>G (p.Q2370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355728A>G" "" "benign" "" "0000248360" "0" "10" "4" "114279422" "114279422" "subst" "0.0944108" "02325" "ANK2_000201" "g.114279422A>G" "" "" "" "ANK2(NM_001148.6):c.9648A>G (p.E3216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358266A>G" "" "benign" "" "0000249039" "0" "10" "4" "114081490" "114081490" "subst" "0" "02325" "ANK2_000116" "g.114081490A>G" "" "" "" "ANK2(NM_001148.6):c.85-14082A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113160334A>G" "" "benign" "" "0000250743" "0" "10" "4" "114186067" "114186067" "subst" "0.00244384" "02326" "ANK2_000126" "g.114186067A>G" "" "" "" "ANK2(NM_001148.4):c.1401A>G (p.A467=), ANK2(NM_001148.6):c.1401A>G (p.A467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264911A>G" "" "benign" "" "0000251984" "0" "30" "4" "114279462" "114279462" "subst" "8.15322E-6" "02326" "ANK2_000203" "g.114279462A>G" "" "" "" "ANK2(NM_001148.4):c.9688A>G (p.T3230A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358306A>G" "" "likely benign" "" "0000252641" "0" "30" "4" "114269433" "114269433" "subst" "0.000528804" "02326" "ANK2_000065" "g.114269433A>G" "" "" "" "ANK2(NM_001148.4):c.4373A>G (p.E1458G), ANK2(NM_001148.6):c.4373A>G (p.(Glu1458Gly)), ANK2(NM_001386174.1):c.4514A>G (p.E1505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113348277A>G" "" "likely benign" "" "0000252781" "0" "50" "4" "114179559" "114179559" "subst" "4.06603E-6" "02326" "ANK2_000251" "g.114179559A>G" "" "" "" "ANK2(NM_001148.4):c.1378A>G (p.T460A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113258403A>G" "" "VUS" "" "0000253962" "0" "30" "4" "114186067" "114186067" "subst" "0.00244384" "01943" "ANK2_000126" "g.114186067A>G" "" "" "" "ANK2(NM_001148.4):c.1401A>G (p.A467=), ANK2(NM_001148.6):c.1401A>G (p.A467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264911A>G" "" "likely benign" "" "0000254437" "0" "30" "4" "114199031" "114199031" "subst" "1.21943E-5" "01943" "ANK2_000127" "g.114199031A>C" "" "" "" "ANK2(NM_001148.4):c.1722A>C (p.G574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113277875A>C" "" "likely benign" "" "0000254961" "0" "30" "4" "114251471" "114251471" "subst" "0.000837051" "01943" "ANK2_000138" "g.114251471A>C" "" "" "" "ANK2(NM_001148.4):c.2970A>C (p.R990=), ANK2(NM_001386174.1):c.3111A>C (p.R1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113330315A>C" "" "likely benign" "" "0000257722" "0" "10" "4" "114302634" "114302634" "subst" "0.0280628" "02330" "ANK2_000246" "g.114302634C>T" "" "" "" "ANK2(NM_001148.4):c.*7C>T, ANK2(NM_001148.6):c.*7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113381478C>T" "" "benign" "" "0000257723" "0" "50" "4" "114279924" "114279924" "subst" "8.14021E-6" "02330" "ANK2_000206" "g.114279924C>T" "" "" "" "ANK2(NM_001148.6):c.10150C>T (p.P3384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358768C>T" "" "VUS" "" "0000257724" "0" "10" "4" "114280145" "114280145" "subst" "0.00246496" "02330" "ANK2_000207" "g.114280145G>A" "" "" "" "ANK2(NM_001148.4):c.10371G>A (p.T3457=), ANK2(NM_001148.6):c.10371G>A (p.T3457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358989G>A" "" "benign" "" "0000257725" "0" "10" "4" "114280169" "114280169" "subst" "0.00212643" "02330" "ANK2_000208" "g.114280169G>A" "" "" "" "ANK2(NM_001148.4):c.10395G>A (p.E3465=), ANK2(NM_001148.6):c.10395G>A (p.E3465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113359013G>A" "" "benign" "" "0000257726" "0" "10" "4" "114280305" "114280305" "subst" "0.000309545" "02330" "ANK2_000209" "g.114280305C>T" "" "" "" "ANK2(NM_001148.6):c.10531C>T (p.L3511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113359149C>T" "" "benign" "" "0000257727" "0" "50" "4" "114281999" "114281999" "subst" "0.000155159" "02330" "ANK2_000210" "g.114281999C>T" "" "" "" "ANK2(NM_001148.6):c.10702C>T (p.(Arg3568Trp)), ANK2(NM_001386174.1):c.10843C>T (p.R3615W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113360843C>T" "" "VUS" "" "0000257728" "0" "50" "4" "114284545" "114284545" "subst" "0" "02330" "ANK2_000211" "g.114284545T>C" "" "" "" "ANK2(NM_001148.6):c.10808T>C (p.I3603T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113363389T>C" "" "VUS" "" "0000257729" "0" "50" "4" "114284618" "114284618" "subst" "0.000239859" "02330" "ANK2_000213" "g.114284618T>G" "" "" "" "ANK2(NM_001148.4):c.10881T>G (p.H3627Q), ANK2(NM_001148.6):c.10881T>G (p.H3627Q, p.(His3627Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113363462T>G" "" "VUS" "" "0000257730" "0" "10" "4" "114284645" "114284645" "subst" "0.0895042" "02330" "ANK2_000214" "g.114284645C>T" "" "" "" "ANK2(NM_001148.6):c.10888+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113363489C>T" "" "benign" "" "0000257731" "0" "50" "4" "114176993" "114176993" "subst" "0" "02330" "ANK2_000121" "g.114176993T>C" "" "" "" "ANK2(NM_001148.6):c.1093T>C (p.Y365H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113255837T>C" "" "VUS" "" "0000257732" "0" "50" "4" "114286333" "114286333" "subst" "8.15375E-6" "02330" "ANK2_000215" "g.114286333G>C" "" "" "" "ANK2(NM_001148.6):c.11027G>C (p.S3676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365177G>C" "" "VUS" "" "0000257733" "0" "10" "4" "114286357" "114286358" "del" "0" "02330" "ANK2_000217" "g.114286357_114286358del" "" "" "" "ANK2(NM_001148.6):c.11032+19_11032+20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365201_113365202del" "" "benign" "" "0000257736" "0" "10" "4" "114286357" "114286357" "subst" "0" "02330" "ANK2_000220" "g.114286357A>G" "" "" "" "ANK2(NM_001148.6):c.11032+19A>G, ANK2(NM_001148.6):c.11032+19_11032+21delATGinsGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365201A>G" "" "benign" "" "0000257737" "0" "10" "4" "114286387" "114286388" "del" "0" "02330" "ANK2_000222" "g.114286387_114286388del" "" "" "" "ANK2(NM_001148.6):c.11032+49_11032+50delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365231_113365232del" "" "benign" "" "0000257739" "0" "10" "4" "114286387" "114286388" "dup" "0" "02330" "ANK2_000221" "g.114286387_114286388dup" "" "" "" "ANK2(NM_001148.6):c.11032+48_11032+49dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365231_113365232dup" "" "benign" "" "0000257740" "0" "10" "4" "114286385" "114286388" "del" "0" "02330" "ANK2_000227" "g.114286385_114286388del" "" "" "" "ANK2(NM_001148.6):c.11032+47_11032+50delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365229_113365232del" "" "benign" "" "0000257741" "0" "10" "4" "114286383" "114286388" "del" "0" "02330" "ANK2_000228" "g.114286383_114286388del" "" "" "" "ANK2(NM_001148.6):c.11032+45_11032+50delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365227_113365232del" "" "benign" "" "0000257742" "0" "10" "4" "114286358" "114286359" "ins" "0" "02330" "ANK2_000223" "g.114286358_114286359insTG" "" "" "" "ANK2(NM_001148.6):c.11032+20_11032+21insTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113365202_113365203insTG" "" "benign" "" "0000257751" "0" "10" "4" "114177010" "114177010" "subst" "4.46897E-5" "02330" "ANK2_000122" "g.114177010C>T" "" "" "" "ANK2(NM_001148.6):c.1110C>T (p.H370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113255854C>T" "" "benign" "" "0000257752" "0" "10" "4" "114288870" "114288870" "subst" "0.000369913" "02330" "ANK2_000233" "g.114288870C>T" "" "" "" "ANK2(NM_001148.6):c.11181C>T (p.G3727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113367714C>T" "" "benign" "" "0000257753" "0" "30" "4" "114288907" "114288907" "subst" "0.00238235" "02330" "ANK2_000234" "g.114288907C>A" "" "" "" "ANK2(NM_001148.6):c.11218C>A (p.L3740I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113367751C>A" "" "likely benign" "" "0000257754" "0" "30" "4" "114288920" "114288920" "subst" "0.00060987" "02330" "ANK2_000235" "g.114288920C>A" "" "" "" "ANK2(NM_001148.4):c.11231C>A (p.T3744N), ANK2(NM_001148.6):c.11231C>A (p.T3744N, p.(Thr3744Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113367764C>A" "" "likely benign" "" "0000257755" "0" "30" "4" "114177036" "114177036" "subst" "0.000101595" "02330" "ANK2_000080" "g.114177036G>T" "" "" "" "ANK2(NM_001148.6):c.1136G>T (p.R379L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113255880G>T" "" "likely benign" "" "0000257756" "0" "50" "4" "114290890" "114290890" "subst" "8.14963E-6" "02330" "ANK2_000237" "g.114290890G>A" "" "" "" "ANK2(NM_001148.6):c.11539G>A (p.V3847I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113369734G>A" "" "VUS" "" "0000257757" "0" "10" "4" "114294308" "114294308" "subst" "0.187589" "02330" "ANK2_000241" "g.114294308T>C" "" "" "" "ANK2(NM_001148.6):c.11673T>C (p.H3891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373152T>C" "" "benign" "" "0000257758" "0" "30" "4" "114294471" "114294471" "subst" "0.000296915" "02330" "ANK2_000243" "g.114294471T>C" "" "" "" "ANK2(NM_001148.6):c.11725T>C (p.S3909P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373315T>C" "" "likely benign" "" "0000257759" "0" "10" "4" "114294536" "114294536" "subst" "0.00389551" "02330" "ANK2_000244" "g.114294536C>T" "" "" "" "ANK2(NM_001148.6):c.11790C>T (p.I3930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373380C>T" "" "benign" "" "0000257760" "0" "10" "4" "114179201" "114179201" "subst" "1.62555E-5" "02330" "ANK2_000123" "g.114179201C>T" "" "" "" "ANK2(NM_001148.6):c.1189-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113258045C>T" "" "benign" "" "0000257761" "0" "10" "4" "114186055" "114186055" "subst" "0" "02330" "ANK2_000124" "g.114186055T>C" "" "" "" "ANK2(NM_001148.6):c.1389T>C (p.R463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264899T>C" "" "benign" "" "0000257762" "0" "50" "4" "114186063" "114186063" "subst" "0" "02330" "ANK2_000125" "g.114186063C>T" "" "" "" "ANK2(NM_001148.4):c.1397C>T (p.T466M), ANK2(NM_001148.6):c.1397C>T (p.T466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264907C>T" "" "VUS" "" "0000257763" "0" "50" "4" "114208825" "114208825" "subst" "9.7553E-5" "02330" "ANK2_000252" "g.114208825C>T" "" "" "" "ANK2(NM_001148.6):c.2144C>T (p.T715I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113287669C>T" "" "VUS" "" "0000257764" "0" "10" "4" "114208876" "114208876" "subst" "8.17722E-6" "02330" "ANK2_000128" "g.114208876T>C" "" "" "" "ANK2(NM_001148.6):c.2178+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113287720T>C" "" "benign" "" "0000257765" "0" "10" "4" "114208877" "114208877" "subst" "0.00212498" "02330" "ANK2_000253" "g.114208877C>T" "" "" "" "ANK2(NM_001148.4):c.2178+18C>T, ANK2(NM_001148.6):c.2178+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113287721C>T" "" "benign" "" "0000257766" "0" "10" "4" "114209651" "114209651" "subst" "0.00252987" "02330" "ANK2_000131" "g.114209651C>T" "" "" "" "ANK2(NM_001148.4):c.2277+9C>T, ANK2(NM_001148.6):c.2277+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113288495C>T" "" "benign" "" "0000257767" "0" "10" "4" "114213561" "114213561" "subst" "0.0040876" "02330" "ANK2_000255" "g.114213561G>A" "" "" "" "ANK2(NM_001148.4):c.2278-11G>A, ANK2(NM_001148.6):c.2278-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113292405G>A" "" "benign" "" "0000257768" "0" "10" "4" "114213631" "114213631" "subst" "0.0289838" "02330" "ANK2_000132" "g.114213631C>T" "" "" "" "ANK2(NM_001148.6):c.2337C>T (p.V779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113292475C>T" "" "benign" "" "0000257769" "0" "10" "4" "114214588" "114214588" "subst" "0" "02330" "ANK2_000256" "g.114214588C>T" "" "" "" "ANK2(NM_001148.4):c.2377-8C>T, ANK2(NM_001148.6):c.2377-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113293432C>T" "" "benign" "" "0000257770" "0" "50" "4" "114214662" "114214662" "subst" "8.13193E-6" "02330" "ANK2_000133" "g.114214662G>A" "" "" "" "ANK2(NM_001148.6):c.2443G>A (p.V815I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113293506G>A" "" "VUS" "" "0000257771" "0" "10" "4" "114214691" "114214693" "del" "0" "02330" "ANK2_000257" "g.114214691_114214693del" "" "" "" "ANK2(NM_001148.6):c.2472_2474delCAC (p.T826del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113293535_113293537del" "" "benign" "" "0000257772" "0" "10" "4" "114224015" "114224015" "subst" "8.12288E-6" "02330" "ANK2_000134" "g.114224015T>A" "" "" "" "ANK2(NM_001148.6):c.2548+20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113302859T>A" "" "benign" "" "0000257773" "0" "10" "4" "114238896" "114238896" "subst" "0.000142144" "02330" "ANK2_000259" "g.114238896T>A" "" "" "" "ANK2(NM_001148.4):c.2727T>A (p.T909=), ANK2(NM_001148.6):c.2727T>A (p.T909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113317740T>A" "" "benign" "" "0000257774" "0" "30" "4" "114244926" "114244926" "subst" "0.000134599" "02330" "ANK2_000261" "g.114244926C>A" "" "" "" "ANK2(NM_001127493.3):c.2849C>A (p.P950Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113323770C>A" "" "likely benign" "" "0000257775" "0" "50" "4" "114239745" "114239745" "subst" "4.48544E-5" "02330" "ANK2_000135" "g.114239745G>A" "" "" "" "ANK2(NM_001148.6):c.2869G>A (p.V957M, p.(Val957Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113318589G>A" "" "VUS" "" "0000257776" "0" "10" "4" "114244900" "114244900" "subst" "8.17287E-6" "02330" "ANK2_000260" "g.114244900T>C" "" "" "" "ANK2(NM_001148.6):c.2900+5124T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113323744T>C" "" "benign" "" "0000257777" "0" "10" "4" "114251389" "114251389" "subst" "1.23804E-5" "02330" "ANK2_000137" "g.114251389T>C" "" "" "" "ANK2(NM_001148.6):c.2901-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113330233T>C" "" "benign" "" "0000257778" "0" "10" "4" "114254270" "114254270" "subst" "0" "02330" "ANK2_000139" "g.114254270G>A" "" "" "" "ANK2(NM_001148.6):c.3285G>A (p.V1095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113333114G>A" "" "benign" "" "0000257779" "0" "10" "4" "114254351" "114254351" "subst" "0.00129581" "02330" "ANK2_000140" "g.114254351C>T" "" "" "" "ANK2(NM_001148.4):c.3366C>T (p.N1122=), ANK2(NM_001148.6):c.3366C>T (p.N1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113333195C>T" "" "benign" "" "0000257780" "0" "50" "4" "114257082" "114257082" "subst" "0" "02330" "ANK2_000141" "g.114257082G>A" "" "" "" "ANK2(NM_001148.6):c.3460G>A (p.V1154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113335926G>A" "" "VUS" "" "0000257781" "0" "10" "4" "114257165" "114257165" "subst" "0.00135713" "02330" "ANK2_000143" "g.114257165C>T" "" "" "" "ANK2(NM_001148.4):c.3543C>T (p.A1181=), ANK2(NM_001148.6):c.3543C>T (p.A1181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113336009C>T" "" "benign" "" "0000257782" "0" "10" "4" "114257201" "114257201" "subst" "0.136316" "02330" "ANK2_000144" "g.114257201C>T" "" "" "" "ANK2(NM_001148.6):c.3579C>T (p.R1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113336045C>T" "" "benign" "" "0000257783" "0" "10" "4" "114257955" "114257955" "subst" "0.00565174" "02330" "ANK2_000145" "g.114257955G>A" "" "" "" "ANK2(NM_001148.6):c.3796+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113336799G>A" "" "benign" "" "0000257784" "0" "10" "4" "114120284" "114120284" "subst" "0.0309996" "02330" "ANK2_000117" "g.114120284C>T" "" "" "" "ANK2(NM_001148.6):c.384+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113199128C>T" "" "benign" "" "0000257785" "0" "10" "4" "114260488" "114260488" "subst" "0.00240168" "02330" "ANK2_000146" "g.114260488T>C" "" "" "" "ANK2(NM_001148.6):c.3893+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113339332T>C" "" "benign" "" "0000257786" "0" "10" "4" "114260492" "114260492" "subst" "0.130057" "02330" "ANK2_000147" "g.114260492G>T" "" "" "" "ANK2(NM_001148.6):c.3893+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113339336G>T" "" "benign" "" "0000257787" "0" "10" "4" "114264202" "114264202" "subst" "0.0013574" "02330" "ANK2_000148" "g.114264202T>C" "" "" "" "ANK2(NM_001148.4):c.4152T>C (p.D1384=), ANK2(NM_001148.6):c.4152T>C (p.D1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113343046T>C" "" "benign" "" "0000257788" "0" "10" "4" "114267070" "114267070" "subst" "0" "02330" "ANK2_000150" "g.114267070T>C" "" "" "" "ANK2(NM_001148.6):c.4263T>C (p.T1421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113345914T>C" "" "benign" "" "0000257789" "0" "10" "4" "114269480" "114269480" "subst" "0.00520515" "02330" "ANK2_000152" "g.114269480T>C" "" "" "" "ANK2(NM_001148.6):c.4404+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113348324T>C" "" "benign" "" "0000257790" "0" "10" "4" "114274518" "114274518" "subst" "0.0022198" "02330" "ANK2_000153" "g.114274518C>T" "" "" "" "ANK2(NM_001148.4):c.4744C>T (p.R1582W), ANK2(NM_001148.6):c.4744C>T (p.R1582W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353362C>T" "" "benign" "" "0000257791" "0" "10" "4" "114274519" "114274519" "subst" "0.000716828" "02330" "ANK2_000073" "g.114274519G>A" "" "" "" "ANK2(NM_001148.4):c.4745G>A (p.R1582Q), ANK2(NM_001148.6):c.4745G>A (p.R1582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353363G>A" "" "benign" "" "0000257792" "0" "10" "4" "114274922" "114274922" "subst" "2.87182E-5" "02330" "ANK2_000154" "g.114274922G>A" "" "" "" "ANK2(NM_001148.6):c.5148G>A (p.E1716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353766G>A" "" "benign" "" "0000257793" "0" "30" "4" "114274994" "114274994" "subst" "0" "02330" "ANK2_000155" "g.114274994C>A" "" "" "" "ANK2(NM_001148.6):c.5220C>A (p.D1740E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353838C>A" "" "likely benign" "" "0000257794" "0" "10" "4" "114275087" "114275087" "subst" "4.07146E-5" "02330" "ANK2_000156" "g.114275087G>A" "" "" "" "ANK2(NM_001148.6):c.5313G>A (p.K1771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353931G>A" "" "benign" "" "0000257795" "0" "10" "4" "114275243" "114275243" "subst" "0.079494" "02330" "ANK2_000157" "g.114275243C>T" "" "" "" "ANK2(NM_001148.6):c.5469C>T (p.P1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354087C>T" "" "benign" "" "0000257796" "0" "10" "4" "114275489" "114275489" "subst" "0.00270244" "02330" "ANK2_000159" "g.114275489G>A" "" "" "" "ANK2(NM_001148.6):c.5715G>A (p.S1905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354333G>A" "" "benign" "" "0000257797" "0" "50" "4" "114275523" "114275523" "subst" "0" "02330" "ANK2_000160" "g.114275523T>G" "" "" "" "ANK2(NM_001148.6):c.5749T>G (p.S1917A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354367T>G" "" "VUS" "" "0000257798" "0" "10" "4" "114275552" "114275552" "subst" "4.06693E-6" "02330" "ANK2_000161" "g.114275552G>A" "" "" "" "ANK2(NM_001148.4):c.5778G>A (p.P1926=), ANK2(NM_001148.6):c.5778G>A (p.P1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354396G>A" "" "benign" "" "0000257799" "0" "10" "4" "114275942" "114275942" "subst" "0.0434135" "02330" "ANK2_000162" "g.114275942C>G" "" "" "" "ANK2(NM_001148.6):c.6168C>G (p.L2056=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354786C>G" "" "benign" "" "0000257800" "0" "30" "4" "114275950" "114275950" "subst" "0.000675824" "02330" "ANK2_000164" "g.114275950C>T" "" "" "" "ANK2(NM_001148.4):c.6176C>T (p.T2059M), ANK2(NM_001148.6):c.6176C>T (p.T2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354794C>T" "" "likely benign" "" "0000257801" "0" "30" "4" "114275980" "114275980" "subst" "0.00067958" "02330" "ANK2_000166" "g.114275980G>A" "" "" "" "ANK2(NM_001148.4):c.6206G>A (p.R2069H), ANK2(NM_001386174.1):c.6347G>A (p.R2116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354824G>A" "" "likely benign" "" "0000257802" "0" "50" "4" "114276402" "114276402" "subst" "0" "02330" "ANK2_000167" "g.114276402G>A" "" "" "" "ANK2(NM_001148.6):c.6628G>A (p.V2210I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355246G>A" "" "VUS" "" "0000257803" "0" "10" "4" "114276408" "114276408" "subst" "0.00372906" "02330" "ANK2_000168" "g.114276408G>A" "" "" "" "ANK2(NM_001148.6):c.6634G>A (p.G2212S, p.(Gly2212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355252G>A" "" "benign" "" "0000257804" "0" "10" "4" "114276422" "114276422" "subst" "0.00220435" "02330" "ANK2_000169" "g.114276422C>G" "" "" "" "ANK2(NM_001148.4):c.6648C>G (p.G2216=), ANK2(NM_001148.6):c.6648C>G (p.G2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355266C>G" "" "benign" "" "0000257805" "0" "50" "4" "114276652" "114276652" "subst" "4.09678E-6" "02330" "ANK2_000171" "g.114276652G>A" "" "" "" "ANK2(NM_001148.6):c.6878G>A (p.G2293D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355496G>A" "" "VUS" "" "0000257806" "0" "10" "4" "114276680" "114276680" "subst" "0.000322744" "02330" "ANK2_000172" "g.114276680C>T" "" "" "" "ANK2(NM_001148.6):c.6906C>T (p.T2302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355524C>T" "" "benign" "" "0000257807" "0" "10" "4" "114276781" "114276781" "subst" "0.0038701" "02330" "ANK2_000173" "g.114276781C>T" "" "" "" "ANK2(NM_001148.6):c.7007C>T (p.A2336V, p.(Ala2336Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355625C>T" "" "benign" "" "0000257808" "0" "10" "4" "114276880" "114276880" "subst" "0.0943216" "02330" "ANK2_000111" "g.114276880T>C" "" "" "" "ANK2(NM_001148.6):c.7106T>C (p.V2369A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355724T>C" "" "benign" "" "0000257809" "0" "10" "4" "114276905" "114276905" "subst" "7.33419E-5" "02330" "ANK2_000175" "g.114276905C>T" "" "" "" "ANK2(NM_001148.6):c.7131C>T (p.D2377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355749C>T" "" "benign" "" "0000257810" "0" "10" "4" "114276906" "114276906" "subst" "0.00229423" "02330" "ANK2_000064" "g.114276906G>A" "" "" "" "ANK2(NM_001148.4):c.7132G>A (p.E2378K), ANK2(NM_001148.6):c.7132G>A (p.E2378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355750G>A" "" "benign" "" "0000257811" "0" "50" "4" "114276910" "114276910" "subst" "3.25959E-5" "02330" "ANK2_000176" "g.114276910C>A" "" "" "" "ANK2(NM_001148.6):c.7136C>A (p.T2379K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355754C>A" "" "VUS" "" "0000257812" "0" "10" "4" "114277094" "114277094" "subst" "8.95809E-5" "02330" "ANK2_000177" "g.114277094C>T" "" "" "" "ANK2(NM_001148.6):c.7320C>T (p.S2440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355938C>T" "" "benign" "" "0000257813" "0" "10" "4" "114277676" "114277676" "subst" "0.00143402" "02330" "ANK2_000181" "g.114277676G>A" "" "" "" "ANK2(NM_001148.4):c.7902G>A (p.V2634=), ANK2(NM_001148.6):c.7902G>A (p.V2634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356520G>A" "" "benign" "" "0000257814" "0" "50" "4" "114277725" "114277725" "subst" "3.66709E-5" "02330" "ANK2_000094" "g.114277725G>C" "" "" "" "ANK2(NM_001148.6):c.7951G>C (p.V2651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356569G>C" "" "VUS" "" "0000257815" "0" "50" "4" "114277753" "114277753" "subst" "0" "02330" "ANK2_000182" "g.114277753T>A" "" "" "" "ANK2(NM_001148.6):c.7979T>A (p.V2660E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356597T>A" "" "VUS" "" "0000257816" "0" "50" "4" "114277776" "114277776" "subst" "0" "02330" "ANK2_000183" "g.114277776C>A" "" "" "" "ANK2(NM_001148.6):c.8002C>A (p.P2668T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356620C>A" "" "VUS" "" "0000257817" "0" "10" "4" "114163287" "114163287" "subst" "9.34245E-5" "02330" "ANK2_000118" "g.114163287T>C" "" "" "" "ANK2(NM_001148.6):c.813T>C (p.H271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113242131T>C" "" "benign" "" "0000257818" "0" "50" "4" "114278104" "114278104" "subst" "2.86355E-5" "02330" "ANK2_000186" "g.114278104G>T" "" "" "" "ANK2(NM_001148.4):c.8330G>T (p.(Cys2777Phe)), ANK2(NM_001148.6):c.8330G>T (p.C2777F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356948G>T" "" "VUS" "" "0000257819" "0" "50" "4" "114278146" "114278146" "subst" "1.63215E-5" "02330" "ANK2_000187" "g.114278146C>T" "" "" "" "ANK2(NM_001148.6):c.8372C>T (p.S2791L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356990C>T" "" "VUS" "" "0000257820" "0" "10" "4" "114278765" "114278765" "subst" "0" "02330" "ANK2_000194" "g.114278765C>T" "" "" "" "ANK2(NM_001148.6):c.8991C>T (p.S2997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357609C>T" "" "benign" "" "0000257821" "0" "10" "4" "114278927" "114278927" "subst" "9.37872E-5" "02330" "ANK2_000197" "g.114278927C>T" "" "" "" "ANK2(NM_001148.6):c.9153C>T (p.D3051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357771C>T" "" "benign" "" "0000257822" "0" "50" "4" "114170977" "114170977" "subst" "0" "02330" "ANK2_000119" "g.114170977C>A" "" "" "" "ANK2(NM_001148.6):c.949C>A (p.L317I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113249821C>A" "" "VUS" "" "0000257823" "0" "30" "4" "114279300" "114279300" "subst" "0.000175153" "02330" "ANK2_000200" "g.114279300G>T" "" "" "" "ANK2(NM_001148.4):c.9526G>T (p.D3176Y), ANK2(NM_001148.6):c.9526G>T (p.D3176Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358144G>T" "" "likely benign" "" "0000257824" "0" "10" "4" "114279628" "114279628" "subst" "0.00866802" "02330" "ANK2_000114" "g.114279628T>C" "" "" "" "ANK2(NM_001148.4):c.9854T>C (p.(Ile3285Thr), p.I3285T), ANK2(NM_001148.6):c.9854T>C (p.I3285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358472T>C" "" "benign" "" "0000257825" "0" "10" "4" "114279674" "114279674" "subst" "0.019288" "02330" "ANK2_000115" "g.114279674C>A" "" "" "" "ANK2(NM_001148.4):c.9900C>A (p.S3300R), ANK2(NM_001148.6):c.9900C>A (p.S3300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358518C>A" "" "benign" "" "0000257826" "0" "10" "4" "114279770" "114279770" "subst" "0.00169892" "02330" "ANK2_000205" "g.114279770T>C" "" "" "" "ANK2(NM_001148.6):c.9996T>C (p.S3332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358614T>C" "" "benign" "" "0000258747" "0" "10" "4" "114284645" "114284645" "subst" "0.0895042" "02325" "ANK2_000214" "g.114284645C>T" "" "" "" "ANK2(NM_001148.6):c.10888+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113363489C>T" "" "benign" "" "0000258748" "0" "10" "4" "114294308" "114294308" "subst" "0.187589" "02325" "ANK2_000241" "g.114294308T>C" "" "" "" "ANK2(NM_001148.6):c.11673T>C (p.H3891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113373152T>C" "" "benign" "" "0000258749" "0" "10" "4" "114275243" "114275243" "subst" "0.079494" "02325" "ANK2_000157" "g.114275243C>T" "" "" "" "ANK2(NM_001148.6):c.5469C>T (p.P1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354087C>T" "" "benign" "" "0000258750" "0" "10" "4" "114276880" "114276880" "subst" "0.0943216" "02325" "ANK2_000111" "g.114276880T>C" "" "" "" "ANK2(NM_001148.6):c.7106T>C (p.V2369A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355724T>C" "" "benign" "" "0000259317" "0" "30" "4" "114274519" "114274519" "subst" "0.000716828" "02325" "ANK2_000073" "g.114274519G>A" "" "" "" "ANK2(NM_001148.4):c.4745G>A (p.R1582Q), ANK2(NM_001148.6):c.4745G>A (p.R1582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353363G>A" "" "likely benign" "" "0000260942" "0" "10" "4" "114302634" "114302634" "subst" "0.0280628" "02326" "ANK2_000246" "g.114302634C>T" "" "" "" "ANK2(NM_001148.4):c.*7C>T, ANK2(NM_001148.6):c.*7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113381478C>T" "" "benign" "" "0000260943" "0" "10" "4" "114280145" "114280145" "subst" "0.00246496" "02326" "ANK2_000207" "g.114280145G>A" "" "" "" "ANK2(NM_001148.4):c.10371G>A (p.T3457=), ANK2(NM_001148.6):c.10371G>A (p.T3457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358989G>A" "" "benign" "" "0000260944" "0" "30" "4" "114284598" "114284598" "subst" "0.000659035" "02326" "ANK2_000212" "g.114284598C>G" "" "" "" "ANK2(NM_001148.4):c.10861C>G (p.L3621V), ANK2(NM_001148.6):c.10861C>G (p.L3621V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113363442C>G" "" "likely benign" "" "0000260945" "0" "50" "4" "114186063" "114186063" "subst" "0" "02326" "ANK2_000125" "g.114186063C>T" "" "" "" "ANK2(NM_001148.4):c.1397C>T (p.T466M), ANK2(NM_001148.6):c.1397C>T (p.T466M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113264907C>T" "" "VUS" "" "0000260946" "0" "10" "4" "114208877" "114208877" "subst" "0.00212498" "02326" "ANK2_000253" "g.114208877C>T" "" "" "" "ANK2(NM_001148.4):c.2178+18C>T, ANK2(NM_001148.6):c.2178+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113287721C>T" "" "benign" "" "0000260947" "0" "30" "4" "114209651" "114209651" "subst" "0.00252987" "02326" "ANK2_000131" "g.114209651C>T" "" "" "" "ANK2(NM_001148.4):c.2277+9C>T, ANK2(NM_001148.6):c.2277+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113288495C>T" "" "likely benign" "" "0000260948" "0" "10" "4" "114213561" "114213561" "subst" "0.0040876" "02326" "ANK2_000255" "g.114213561G>A" "" "" "" "ANK2(NM_001148.4):c.2278-11G>A, ANK2(NM_001148.6):c.2278-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113292405G>A" "" "benign" "" "0000260949" "0" "10" "4" "114213551" "114213551" "subst" "0.0106234" "02326" "ANK2_000254" "g.114213551C>T" "" "" "" "ANK2(NM_001148.4):c.2278-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113292395C>T" "" "benign" "" "0000260950" "0" "30" "4" "114214588" "114214588" "subst" "0" "02326" "ANK2_000256" "g.114214588C>T" "" "" "" "ANK2(NM_001148.4):c.2377-8C>T, ANK2(NM_001148.6):c.2377-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113293432C>T" "" "likely benign" "" "0000260951" "0" "30" "4" "114223913" "114223913" "subst" "0" "02326" "ANK2_000258" "g.114223913G>T" "" "" "" "ANK2(NM_001148.4):c.2476-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113302757G>T" "" "likely benign" "" "0000260952" "0" "30" "4" "114244917" "114244917" "subst" "4.90044E-5" "02326" "ANK2_000136" "g.114244917G>A" "" "" "" "ANK2(NM_001127493.1):c.2840G>A (p.R947H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113323761G>A" "" "likely benign" "" "0000260953" "0" "50" "4" "114267059" "114267059" "subst" "2.03343E-5" "02326" "ANK2_000149" "g.114267059C>T" "" "" "" "ANK2(NM_001148.4):c.4252C>T (p.R1418C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113345903C>T" "" "VUS" "" "0000260954" "0" "30" "4" "114274519" "114274519" "subst" "0.000716828" "02326" "ANK2_000073" "g.114274519G>A" "" "" "" "ANK2(NM_001148.4):c.4745G>A (p.R1582Q), ANK2(NM_001148.6):c.4745G>A (p.R1582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113353363G>A" "" "likely benign" "" "0000260955" "0" "70" "4" "114275400" "114275400" "subst" "0" "02326" "ANK2_000158" "g.114275400G>A" "" "" "" "ANK2(NM_001148.4):c.5626G>A (p.E1876K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354244G>A" "" "likely pathogenic" "" "0000260956" "0" "30" "4" "114275944" "114275944" "subst" "3.2581E-5" "02326" "ANK2_000163" "g.114275944C>T" "" "" "" "ANK2(NM_001148.4):c.6170C>T (p.P2057L), ANK2(NM_001148.6):c.6170C>T (p.P2057L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354788C>T" "" "likely benign" "" "0000260957" "0" "30" "4" "114275950" "114275950" "subst" "0.000675824" "02326" "ANK2_000164" "g.114275950C>T" "" "" "" "ANK2(NM_001148.4):c.6176C>T (p.T2059M), ANK2(NM_001148.6):c.6176C>T (p.T2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354794C>T" "" "likely benign" "" "0000260958" "0" "30" "4" "114275971" "114275971" "subst" "0" "02326" "ANK2_000165" "g.114275971G>A" "" "" "" "ANK2(NM_001148.4):c.6197G>A (p.R2066K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354815G>A" "" "likely benign" "" "0000260959" "0" "30" "4" "114275980" "114275980" "subst" "0.00067958" "02326" "ANK2_000166" "g.114275980G>A" "" "" "" "ANK2(NM_001148.4):c.6206G>A (p.R2069H), ANK2(NM_001386174.1):c.6347G>A (p.R2116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113354824G>A" "" "likely benign" "" "0000260960" "0" "30" "4" "114276906" "114276906" "subst" "0.00229423" "02326" "ANK2_000064" "g.114276906G>A" "" "" "" "ANK2(NM_001148.4):c.7132G>A (p.E2378K), ANK2(NM_001148.6):c.7132G>A (p.E2378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113355750G>A" "" "likely benign" "" "0000260961" "0" "30" "4" "114277951" "114277951" "subst" "4.08143E-6" "02326" "ANK2_000185" "g.114277951C>T" "" "" "" "ANK2(NM_001148.4):c.8177C>T (p.T2726I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356795C>T" "" "likely benign" "" "0000260962" "0" "30" "4" "114278229" "114278229" "subst" "0" "02326" "ANK2_000189" "g.114278229G>A" "" "" "" "ANK2(NM_001148.4):c.8455G>A (p.E2819K), ANK2(NM_001148.6):c.8455G>A (p.E2819K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357073G>A" "" "likely benign" "" "0000260963" "0" "30" "4" "114278617" "114278617" "subst" "0.000219827" "02326" "ANK2_000063" "g.114278617C>G" "" "" "" "ANK2(NM_001148.4):c.8843C>G (p.A2948G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357461C>G" "" "likely benign" "" "0000260964" "0" "30" "4" "114278677" "114278677" "subst" "0.000113946" "02326" "ANK2_000192" "g.114278677T>C" "" "" "" "ANK2(NM_001148.4):c.8903T>C (p.V2968A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357521T>C" "" "likely benign" "" "0000260965" "0" "30" "4" "114278820" "114278820" "subst" "0.000594739" "02326" "ANK2_000195" "g.114278820G>A" "" "" "" "ANK2(NM_001148.4):c.9046G>A (p.E3016K), ANK2(NM_001148.6):c.9046G>A (p.E3016K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357664G>A" "" "likely benign" "" "0000260966" "0" "50" "4" "114278947" "114278947" "subst" "4.0814E-6" "02326" "ANK2_000198" "g.114278947G>A" "" "" "" "ANK2(NM_001148.4):c.9173G>A (p.R3058H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357791G>A" "" "VUS" "" "0000260967" "0" "30" "4" "114279300" "114279300" "subst" "0.000175153" "02326" "ANK2_000200" "g.114279300G>T" "" "" "" "ANK2(NM_001148.4):c.9526G>T (p.D3176Y), ANK2(NM_001148.6):c.9526G>T (p.D3176Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358144G>T" "" "likely benign" "" "0000260968" "0" "30" "4" "114279509" "114279509" "subst" "2.8493E-5" "02326" "ANK2_000204" "g.114279509C>T" "" "" "" "ANK2(NM_001148.4):c.9735C>T (p.P3245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358353C>T" "" "likely benign" "" "0000260969" "0" "30" "4" "114279628" "114279628" "subst" "0.00866802" "02326" "ANK2_000114" "g.114279628T>C" "" "" "" "ANK2(NM_001148.4):c.9854T>C (p.(Ile3285Thr), p.I3285T), ANK2(NM_001148.6):c.9854T>C (p.I3285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358472T>C" "" "likely benign" "" "0000260970" "0" "30" "4" "114279674" "114279674" "subst" "0.019288" "02326" "ANK2_000115" "g.114279674C>A" "" "" "" "ANK2(NM_001148.4):c.9900C>A (p.S3300R), ANK2(NM_001148.6):c.9900C>A (p.S3300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358518C>A" "" "likely benign" "" "0000262452" "0" "30" "4" "114280145" "114280145" "subst" "0.00246496" "01943" "ANK2_000207" "g.114280145G>A" "" "" "" "ANK2(NM_001148.4):c.10371G>A (p.T3457=), ANK2(NM_001148.6):c.10371G>A (p.T3457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113358989G>A" "" "likely benign" "" "0000262453" "0" "50" "4" "114262864" "114262864" "subst" "4.06478E-6" "01943" "ANK2_000069" "g.114262864G>A" "" "" "" "ANK2(NM_001148.4):c.3914G>A (p.R1305Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113341708G>A" "" "VUS" "" "0000262454" "0" "10" "4" "114277605" "114277605" "subst" "0.0012724" "01943" "ANK2_000180" "g.114277605T>C" "" "" "" "ANK2(NM_001148.4):c.7831T>C (p.Y2611H), ANK2(NM_001386174.1):c.7972T>C (p.Y2658H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113356449T>C" "" "benign" "" "0000262455" "0" "30" "4" "114278188" "114278188" "subst" "4.48438E-5" "01943" "ANK2_000188" "g.114278188C>T" "" "" "" "ANK2(NM_001148.4):c.8414C>T (p.P2805L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357032C>T" "" "likely benign" "" "0000262456" "0" "50" "4" "114278326" "114278326" "subst" "0.000142463" "01943" "ANK2_000190" "g.114278326C>T" "" "" "" "ANK2(NM_001148.4):c.8552C>T (p.P2851L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357170C>T" "" "VUS" "" "0000262457" "0" "30" "4" "114278501" "114278501" "subst" "6.51084E-5" "01943" "ANK2_000191" "g.114278501C>T" "" "" "" "ANK2(NM_001148.4):c.8727C>T (p.P2909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113357345C>T" "" "likely benign" "" "0000262458" "0" "30" "4" "114176897" "114176897" "subst" "0.000162829" "01943" "ANK2_000120" "g.114176897C>T" "" "" "" "ANK2(NM_001148.4):c.997C>T (p.L333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113255741C>T" "" "likely benign" "" "0000337024" "0" "70" "4" "114239672" "114239672" "subst" "0" "02327" "ANK2_000248" "g.114239672G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113318516G>A" "" "likely pathogenic" "" "0000342598" "0" "70" "4" "114170950" "114170950" "subst" "0" "02327" "ANK2_000247" "g.114170950C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113249794C>T" "" "likely pathogenic" "" "0000345140" "0" "30" "4" "114269433" "114269433" "subst" "0.000528804" "02327" "ANK2_000065" "g.114269433A>G" "" "" "" "ANK2(NM_001148.4):c.4373A>G (p.E1458G), ANK2(NM_001148.6):c.4373A>G (p.(Glu1458Gly)), ANK2(NM_001386174.1):c.4514A>G (p.E1505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113348277A>G" "" "likely benign" "" "0000348685" "0" "70" "4" "114257872" "114257872" "del" "0" "02327" "ANK2_000249" "g.114257872del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113336716del" "" "likely pathogenic" "" "0000521219" "0" "30" "4" "113970867" "113970867" "subst" "7.7532E-5" "02330" "ANK2_000262" "g.113970867C>G" "" "" "" "ANK2(NM_001148.6):c.-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113049711C>G" "" "likely benign" "" "0000521220" "0" "10" "4" "114072299" "114072299" "subst" "0" "02330" "ANK2_000263" "g.114072299C>T" "" "" "" "ANK2(NM_001148.6):c.85-23273C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113151143C>T" "" "benign" "" "0000521221" "0" "30" "4" "114117568" "114117568" "subst" "0.000351124" "02330" "ANK2_000264" "g.114117568G>A" "" "" "" "ANK2(NM_001148.4):c.231G>A (p.V77=), ANK2(NM_001386174.1):c.282G>A (p.V94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113196412G>A" "" "likely benign" "" "0000521222" "0" "10" "4" "114120247" "114120247" "subst" "0" "02330" "ANK2_000265" "g.114120247T>C" "" "" "" "ANK2(NM_001148.6):c.366T>C (p.N122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113199091T>C" "" "benign" "" "0000521223" "0" "10" "4" "114120284" "114120284" "subst" "0.0309996" "02327" "ANK2_000117" "g.114120284C>T" "" "" "" "ANK2(NM_001148.6):c.384+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113199128C>T" "" "benign" "" "0000521224" "0" "30" "4" "114153349" "114153349" "subst" "0" "02326" "ANK2_000266" "g.114153349A>G" "" "" "" "ANK2(NM_001148.4):c.417A>G (p.Q139=), ANK2(NM_001386174.1):c.468A>G (p.Q156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113232193A>G" "" "likely benign" "" "0000521225" "0" "30" "4" "114158133" "114158133" "subst" "0" "02327" "ANK2_000267" "g.114158133A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113236977A>G" "" "likely benign" "" "0000521226" "0" "50" "4" "114158317" "114158317" "subst" "8.12579E-6" "02330" "ANK2_000268" "g.114158317G>A" "" "" "" "ANK2(NM_001148.6):c.658G>A (p.V220I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113237161G>A" "" "VUS" "" "0000521227" "0" "50" "4" "114163336" "114163336" "subst" "0" "02327" "ANK2_000269" "g.114163336C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113242180C>T" "" "VUS" "" "0000521228" "0" "50" "4" "114163351" "114163351" "subst" "0.000105605" "02327" "ANK2_000270" "g.114163351G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113242195G>A" "" "VUS" "" "0000521229" "0" "30" "4" "114177035" "114177035" "subst" "0.000621729" "02326" "ANK2_000271" "g.114177035C>T" "" "" "" "ANK2(NM_001148.4):c.1135C>T (p.R379C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113255879C>T" "" "likely benign" "" "0000521230" "0" "10" "4" "114179262" "114179262" "subst" "0.00136614" "02327" "ANK2_000272" "g.114179262A>G" "" "" "" "ANK2(NM_001148.6):c.1245A>G (p.E415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113258106A>G" "" "benign" "" "0000521231" "0" "10" "4" "114186067" "114186067" "subst" "0.00244384" "02327" "ANK2_000126" "g.114186067A>G" "" "" "" "ANK2(NM_001148.4):c.1401A>G (p.A467=), ANK2(NM_001148.6):c.1401A>G (p.A467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113264911A>G" "" "benign" "" "0000521232" "0" "10" "4" "114203944" "114203944" "subst" "0.00136574" "02327" "ANK2_000273" "g.114203944A>G" "" "" "" "ANK2(NM_001148.6):c.1995A>G (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113282788A>G" "" "benign" "" "0000521233" "0" "50" "4" "114204009" "114204009" "subst" "4.47427E-5" "02330" "ANK2_000095" "g.114204009A>G" "" "" "" "ANK2(NM_001148.6):c.2060A>G (p.N687S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113282853A>G" "" "VUS" "" "0000521234" "0" "70" "4" "114209578" "114209578" "subst" "0" "02327" "ANK2_000274" "g.114209578A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113288422A>G" "" "likely pathogenic" "" "0000521235" "0" "10" "4" "114209630" "114209630" "subst" "3.25034E-5" "02330" "ANK2_000275" "g.114209630C>T" "" "" "" "ANK2(NM_001148.6):c.2265C>T (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113288474C>T" "" "benign" "" "0000521236" "0" "10" "4" "114209651" "114209651" "subst" "0.00252987" "02327" "ANK2_000131" "g.114209651C>T" "" "" "" "ANK2(NM_001148.4):c.2277+9C>T, ANK2(NM_001148.6):c.2277+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113288495C>T" "" "benign" "" "0000521237" "0" "10" "4" "114209658" "114209658" "subst" "0" "02330" "ANK2_000276" "g.114209658T>A" "" "" "" "ANK2(NM_001148.6):c.2277+16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113288502T>A" "" "benign" "" "0000521238" "0" "10" "4" "114213561" "114213561" "subst" "0.0040876" "02327" "ANK2_000255" "g.114213561G>A" "" "" "" "ANK2(NM_001148.4):c.2278-11G>A, ANK2(NM_001148.6):c.2278-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113292405G>A" "" "benign" "" "0000521239" "0" "10" "4" "114213631" "114213631" "subst" "0.0289838" "02327" "ANK2_000132" "g.114213631C>T" "" "" "" "ANK2(NM_001148.6):c.2337C>T (p.V779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113292475C>T" "" "benign" "" "0000521240" "0" "10" "4" "114213682" "114213682" "subst" "9.28703E-5" "02330" "ANK2_000277" "g.114213682G>C" "" "" "" "ANK2(NM_001148.6):c.2376+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113292526G>C" "" "benign" "" "0000521241" "0" "50" "4" "114214691" "114214693" "del" "0" "02327" "ANK2_000257" "g.114214691_114214693del" "" "" "" "ANK2(NM_001148.6):c.2472_2474delCAC (p.T826del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113293535_113293537del" "" "VUS" "" "0000521242" "0" "30" "4" "114238896" "114238896" "subst" "0.000142144" "02327" "ANK2_000259" "g.114238896T>A" "" "" "" "ANK2(NM_001148.4):c.2727T>A (p.T909=), ANK2(NM_001148.6):c.2727T>A (p.T909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113317740T>A" "" "likely benign" "" "0000521244" "0" "10" "4" "114251386" "114251386" "subst" "0.00132612" "02330" "ANK2_000279" "g.114251386C>G" "" "" "" "ANK2(NM_001148.6):c.2901-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113330230C>G" "" "benign" "" "0000521245" "0" "50" "4" "114251575" "114251575" "subst" "0.000170879" "02330" "ANK2_000280" "g.114251575G>C" "" "" "" "ANK2(NM_001148.6):c.3074G>C (p.G1025A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113330419G>C" "" "VUS" "" "0000521246" "0" "10" "4" "114254219" "114254219" "subst" "2.03075E-5" "02330" "ANK2_000281" "g.114254219C>A" "" "" "" "ANK2(NM_001148.6):c.3234C>A (p.I1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113333063C>A" "" "benign" "" "0000521247" "0" "10" "4" "114254240" "114254240" "subst" "0.00133219" "02330" "ANK2_000282" "g.114254240G>T" "" "" "" "ANK2(NM_001148.4):c.3255G>T (p.A1085=), ANK2(NM_001148.6):c.3255G>T (p.A1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113333084G>T" "" "benign" "" "0000521248" "0" "10" "4" "114254351" "114254351" "subst" "0.00129581" "02327" "ANK2_000140" "g.114254351C>T" "" "" "" "ANK2(NM_001148.4):c.3366C>T (p.N1122=), ANK2(NM_001148.6):c.3366C>T (p.N1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113333195C>T" "" "benign" "" "0000521249" "0" "10" "4" "114254376" "114254376" "subst" "0.00182942" "02330" "ANK2_000283" "g.114254376T>G" "" "" "" "ANK2(NM_001148.4):c.3379+12T>G, ANK2(NM_001148.6):c.3379+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113333220T>G" "" "benign" "" "0000521250" "0" "10" "4" "114254376" "114254376" "subst" "0.00182942" "02326" "ANK2_000283" "g.114254376T>G" "" "" "" "ANK2(NM_001148.4):c.3379+12T>G, ANK2(NM_001148.6):c.3379+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113333220T>G" "" "benign" "" "0000521251" "0" "10" "4" "114257132" "114257132" "subst" "0.00778625" "02327" "ANK2_000142" "g.114257132A>G" "" "" "" "ANK2(NM_001148.6):c.3510A>G (p.V1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113335976A>G" "" "benign" "" "0000521252" "0" "10" "4" "114257165" "114257165" "subst" "0.00135713" "02327" "ANK2_000143" "g.114257165C>T" "" "" "" "ANK2(NM_001148.4):c.3543C>T (p.A1181=), ANK2(NM_001148.6):c.3543C>T (p.A1181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113336009C>T" "" "benign" "" "0000521253" "0" "10" "4" "114264160" "114264160" "del" "1.21993E-5" "02330" "ANK2_000284" "g.114264160del" "" "" "" "ANK2(NM_001148.6):c.4123-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113343004del" "" "benign" "" "0000521254" "0" "10" "4" "114264202" "114264202" "subst" "0.0013574" "02327" "ANK2_000148" "g.114264202T>C" "" "" "" "ANK2(NM_001148.4):c.4152T>C (p.D1384=), ANK2(NM_001148.6):c.4152T>C (p.D1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113343046T>C" "" "benign" "" "0000521255" "0" "30" "4" "114264280" "114264280" "subst" "0" "02327" "ANK2_000285" "g.114264280A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113343124A>G" "" "likely benign" "" "0000521256" "0" "30" "4" "114267122" "114267122" "subst" "0.000288644" "02327" "ANK2_000286" "g.114267122G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113345966G>T" "" "likely benign" "" "0000521257" "0" "30" "4" "114267183" "114267183" "subst" "0" "02327" "ANK2_000287" "g.114267183C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113346027C>T" "" "likely benign" "" "0000521258" "0" "30" "4" "114274519" "114274519" "subst" "0.000716828" "02327" "ANK2_000073" "g.114274519G>A" "" "" "" "ANK2(NM_001148.4):c.4745G>A (p.R1582Q), ANK2(NM_001148.6):c.4745G>A (p.R1582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353363G>A" "" "likely benign" "" "0000521259" "0" "30" "4" "114274743" "114274743" "subst" "0" "02327" "ANK2_000288" "g.114274743A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353587A>T" "" "likely benign" "" "0000521260" "0" "30" "4" "114275014" "114275014" "subst" "0.00032257" "02330" "ANK2_000289" "g.114275014C>G" "" "" "" "ANK2(NM_001148.6):c.5240C>G (p.P1747R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353858C>G" "" "likely benign" "" "0000521261" "0" "30" "4" "114275381" "114275381" "subst" "8.14067E-6" "02327" "ANK2_000290" "g.114275381G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354225G>T" "" "likely benign" "" "0000521262" "0" "10" "4" "114275548" "114275548" "subst" "0" "02327" "ANK2_000291" "g.114275548A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354392A>C" "" "benign" "" "0000521263" "0" "30" "4" "114275852" "114275852" "subst" "4.09299E-6" "02327" "ANK2_000292" "g.114275852A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354696A>T" "" "likely benign" "" "0000521264" "0" "30" "4" "114275917" "114275917" "subst" "7.74448E-5" "02326" "ANK2_000293" "g.114275917A>G" "" "" "" "ANK2(NM_001148.4):c.6143A>G (p.Q2048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354761A>G" "" "likely benign" "" "0000521265" "0" "50" "4" "114275944" "114275944" "subst" "3.2581E-5" "02330" "ANK2_000163" "g.114275944C>T" "" "" "" "ANK2(NM_001148.4):c.6170C>T (p.P2057L), ANK2(NM_001148.6):c.6170C>T (p.P2057L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354788C>T" "" "VUS" "" "0000521267" "0" "30" "4" "114276279" "114276279" "subst" "6.10734E-5" "02326" "ANK2_000295" "g.114276279G>A" "" "" "" "ANK2(NM_001148.4):c.6505G>A (p.V2169I), ANK2(NM_001148.6):c.6505G>A (p.V2169I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355123G>A" "" "likely benign" "" "0000521268" "0" "10" "4" "114276407" "114276407" "subst" "0.00063647" "02330" "ANK2_000296" "g.114276407C>T" "" "" "" "ANK2(NM_001148.4):c.6633C>T (p.A2211=), ANK2(NM_001148.6):c.6633C>T (p.A2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355251C>T" "" "benign" "" "0000521269" "0" "30" "4" "114276407" "114276407" "subst" "0.00063647" "02327" "ANK2_000296" "g.114276407C>T" "" "" "" "ANK2(NM_001148.4):c.6633C>T (p.A2211=), ANK2(NM_001148.6):c.6633C>T (p.A2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355251C>T" "" "likely benign" "" "0000521270" "0" "30" "4" "114276422" "114276422" "subst" "0.00220435" "02326" "ANK2_000169" "g.114276422C>G" "" "" "" "ANK2(NM_001148.4):c.6648C>G (p.G2216=), ANK2(NM_001148.6):c.6648C>G (p.G2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355266C>G" "" "likely benign" "" "0000521271" "0" "50" "4" "114276499" "114276499" "subst" "5.31715E-5" "02330" "ANK2_000297" "g.114276499C>T" "" "" "" "ANK2(NM_001148.6):c.6725C>T (p.T2242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355343C>T" "" "VUS" "" "0000521272" "0" "10" "4" "114276557" "114276557" "subst" "4.10836E-6" "02330" "ANK2_000298" "g.114276557A>G" "" "" "" "ANK2(NM_001148.6):c.6783A>G (p.T2261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355401A>G" "" "benign" "" "0000521273" "0" "10" "4" "114276781" "114276781" "subst" "0.0038701" "02327" "ANK2_000173" "g.114276781C>T" "" "" "" "ANK2(NM_001148.6):c.7007C>T (p.A2336V, p.(Ala2336Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355625C>T" "" "benign" "" "0000521274" "0" "30" "4" "114276833" "114276833" "subst" "0.000158795" "02330" "ANK2_000299" "g.114276833A>G" "" "" "" "ANK2(NM_001148.6):c.7059A>G (p.Q2353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355677A>G" "" "likely benign" "" "0000521275" "0" "30" "4" "114276906" "114276906" "subst" "0.00229423" "02327" "ANK2_000064" "g.114276906G>A" "" "" "" "ANK2(NM_001148.4):c.7132G>A (p.E2378K), ANK2(NM_001148.6):c.7132G>A (p.E2378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355750G>A" "" "likely benign" "" "0000521276" "0" "50" "4" "114276910" "114276910" "subst" "0" "02330" "ANK2_000300" "g.114276910C>T" "" "" "" "ANK2(NM_001148.6):c.7136C>T (p.T2379I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355754C>T" "" "VUS" "" "0000521277" "0" "50" "4" "114276942" "114276942" "subst" "5.29842E-5" "02330" "ANK2_000301" "g.114276942A>C" "" "" "" "ANK2(NM_001148.4):c.7168A>C (p.(Lys2390Gln)), ANK2(NM_001148.6):c.7168A>C (p.K2390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355786A>C" "" "VUS" "" "0000521278" "0" "30" "4" "114277171" "114277171" "subst" "0.000725352" "02330" "ANK2_000302" "g.114277171G>A" "" "" "" "ANK2(NM_001148.6):c.7397G>A (p.R2466H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356015G>A" "" "likely benign" "" "0000521279" "0" "30" "4" "114277262" "114277262" "subst" "0.000660691" "02327" "ANK2_000179" "g.114277262A>G" "" "" "" "ANK2(NM_001148.4):c.7488A>G (p.T2496=), ANK2(NM_001148.6):c.7488A>G (p.T2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356106A>G" "" "likely benign" "" "0000521280" "0" "10" "4" "114277299" "114277299" "subst" "0.000138573" "02330" "ANK2_000303" "g.114277299C>T" "" "" "" "ANK2(NM_001148.6):c.7525C>T (p.L2509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356143C>T" "" "benign" "" "0000521281" "0" "30" "4" "114277521" "114277521" "subst" "0" "02327" "ANK2_000304" "g.114277521A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356365A>G" "" "likely benign" "" "0000521282" "0" "30" "4" "114277671" "114277671" "subst" "0" "02327" "ANK2_000305" "g.114277671G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356515G>T" "" "likely benign" "" "0000521283" "0" "10" "4" "114277706" "114277706" "subst" "0.000219983" "02330" "ANK2_000306" "g.114277706G>A" "" "" "" "ANK2(NM_001148.6):c.7932G>A (p.E2644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356550G>A" "" "benign" "" "0000521284" "0" "30" "4" "114277839" "114277839" "subst" "0" "02327" "ANK2_000307" "g.114277839G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356683G>A" "" "likely benign" "" "0000521285" "0" "30" "4" "114277863" "114277863" "subst" "0" "02327" "ANK2_000308" "g.114277863T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356707T>A" "" "likely benign" "" "0000521286" "0" "30" "4" "114277907" "114277907" "subst" "4.07219E-6" "02327" "ANK2_000309" "g.114277907G>A" "" "" "" "ANK2(NM_001386174.1):c.8274G>A (p.Q2758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356751G>A" "" "likely benign" "" "0000521287" "0" "50" "4" "114277940" "114277940" "subst" "4.07943E-5" "02330" "ANK2_000310" "g.114277940G>A" "" "" "" "ANK2(NM_001148.4):c.8166G>A (p.M2722I), ANK2(NM_001148.6):c.8166G>A (p.M2722I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356784G>A" "" "VUS" "" "0000521288" "0" "10" "4" "114278128" "114278128" "subst" "0.00162145" "02330" "ANK2_000089" "g.114278128C>T" "" "" "" "ANK2(NM_001148.4):c.8354C>T (p.S2785L), ANK2(NM_001148.6):c.8354C>T (p.S2785L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356972C>T" "" "benign" "" "0000521289" "0" "10" "4" "114278128" "114278128" "subst" "0.00162145" "02327" "ANK2_000089" "g.114278128C>T" "" "" "" "ANK2(NM_001148.4):c.8354C>T (p.S2785L), ANK2(NM_001148.6):c.8354C>T (p.S2785L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356972C>T" "" "benign" "" "0000521290" "0" "30" "4" "114278128" "114278128" "subst" "0.00162145" "02326" "ANK2_000089" "g.114278128C>T" "" "" "" "ANK2(NM_001148.4):c.8354C>T (p.S2785L), ANK2(NM_001148.6):c.8354C>T (p.S2785L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356972C>T" "" "likely benign" "" "0000521291" "0" "30" "4" "114278237" "114278237" "subst" "2.44363E-5" "02327" "ANK2_000311" "g.114278237C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357081C>A" "" "likely benign" "" "0000521292" "0" "30" "4" "114278258" "114278258" "subst" "0.000293119" "02327" "ANK2_000312" "g.114278258T>C" "" "" "" "ANK2(NM_001386174.1):c.8625T>C (p.D2875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357102T>C" "" "likely benign" "" "0000521293" "0" "10" "4" "114278277" "114278277" "subst" "0.0856126" "02330" "ANK2_000113" "g.114278277C>T" "" "" "" "ANK2(NM_001148.6):c.8503C>T (p.P2835S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357121C>T" "" "benign" "" "0000521295" "0" "10" "4" "114278432" "114278432" "subst" "0.000321619" "02330" "ANK2_000314" "g.114278432A>G" "" "" "" "ANK2(NM_001148.6):c.8658A>G (p.L2886=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357276A>G" "" "benign" "" "0000521296" "0" "50" "4" "114278502" "114278502" "subst" "2.44176E-5" "02330" "ANK2_000315" "g.114278502G>A" "" "" "" "ANK2(NM_001148.4):c.8728G>A (p.V2910M), ANK2(NM_001148.6):c.8728G>A (p.V2910M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357346G>A" "" "VUS" "" "0000521297" "0" "30" "4" "114278820" "114278820" "subst" "0.000594739" "02330" "ANK2_000195" "g.114278820G>A" "" "" "" "ANK2(NM_001148.4):c.9046G>A (p.E3016K), ANK2(NM_001148.6):c.9046G>A (p.E3016K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357664G>A" "" "likely benign" "" "0000521298" "0" "30" "4" "114278820" "114278820" "subst" "0.000594739" "01943" "ANK2_000195" "g.114278820G>A" "" "" "" "ANK2(NM_001148.4):c.9046G>A (p.E3016K), ANK2(NM_001148.6):c.9046G>A (p.E3016K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357664G>A" "" "likely benign" "" "0000521299" "0" "10" "4" "114278835" "114278835" "subst" "0.0014382" "02327" "ANK2_000316" "g.114278835G>A" "" "" "" "ANK2(NM_001148.6):c.9061G>A (p.(Ala3021Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357679G>A" "" "benign" "" "0000521300" "0" "30" "4" "114279213" "114279213" "subst" "0" "01943" "ANK2_000317" "g.114279213G>A" "" "" "" "ANK2(NM_001148.4):c.9439G>A (p.V3147M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358057G>A" "" "likely benign" "" "0000521301" "0" "50" "4" "114279597" "114279597" "subst" "1.22283E-5" "02330" "ANK2_000318" "g.114279597G>A" "" "" "" "ANK2(NM_001148.6):c.9823G>A (p.D3275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358441G>A" "" "VUS" "" "0000521302" "0" "50" "4" "114279597" "114279597" "subst" "1.22283E-5" "02327" "ANK2_000318" "g.114279597G>A" "" "" "" "ANK2(NM_001148.6):c.9823G>A (p.D3275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358441G>A" "" "VUS" "" "0000521303" "0" "30" "4" "114279599" "114279599" "subst" "0.000293456" "02327" "ANK2_000319" "g.114279599T>G" "" "" "" "ANK2(NM_001148.6):c.9825T>G (p.D3275E, p.(Asp3275Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358443T>G" "" "likely benign" "" "0000521304" "0" "10" "4" "114279628" "114279628" "subst" "0.00866802" "02327" "ANK2_000114" "g.114279628T>C" "" "" "" "ANK2(NM_001148.4):c.9854T>C (p.(Ile3285Thr), p.I3285T), ANK2(NM_001148.6):c.9854T>C (p.I3285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358472T>C" "" "benign" "" "0000521305" "0" "30" "4" "114279690" "114279690" "subst" "1.63416E-5" "02326" "ANK2_000320" "g.114279690G>A" "" "" "" "ANK2(NM_001148.4):c.9916G>A (p.(Val3306Ile), p.V3306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358534G>A" "" "likely benign" "" "0000521307" "0" "10" "4" "114279770" "114279770" "subst" "0.00169892" "02327" "ANK2_000205" "g.114279770T>C" "" "" "" "ANK2(NM_001148.6):c.9996T>C (p.S3332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358614T>C" "" "benign" "" "0000521308" "0" "30" "4" "114279791" "114279791" "subst" "0.000113991" "02327" "ANK2_000322" "g.114279791G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358635G>A" "" "likely benign" "" "0000521309" "0" "10" "4" "114279806" "114279806" "subst" "4.06825E-5" "02330" "ANK2_000323" "g.114279806A>G" "" "" "" "ANK2(NM_001148.6):c.10032A>G (p.P3344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358650A>G" "" "benign" "" "0000521310" "0" "30" "4" "114279858" "114279858" "subst" "2.03401E-5" "02326" "ANK2_000324" "g.114279858T>A" "" "" "" "ANK2(NM_001148.4):c.10084T>A (p.S3362T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358702T>A" "" "likely benign" "" "0000521311" "0" "30" "4" "114280169" "114280169" "subst" "0.00212643" "02327" "ANK2_000208" "g.114280169G>A" "" "" "" "ANK2(NM_001148.4):c.10395G>A (p.E3465=), ANK2(NM_001148.6):c.10395G>A (p.E3465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113359013G>A" "" "likely benign" "" "0000521312" "0" "30" "4" "114280336" "114280336" "subst" "2.03734E-5" "02327" "ANK2_000325" "g.114280336C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113359180C>T" "" "likely benign" "" "0000521313" "0" "50" "4" "114280441" "114280441" "subst" "0" "02330" "ANK2_000326" "g.114280441A>G" "" "" "" "ANK2(NM_001148.6):c.10667A>G (p.H3556R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113359285A>G" "" "VUS" "" "0000521314" "0" "30" "4" "114282034" "114282034" "subst" "0" "02330" "ANK2_000327" "g.114282034C>T" "" "" "" "ANK2(NM_001148.6):c.10737C>T (p.H3579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113360878C>T" "" "likely benign" "" "0000521315" "0" "30" "4" "114284598" "114284598" "subst" "0.000659035" "02330" "ANK2_000212" "g.114284598C>G" "" "" "" "ANK2(NM_001148.4):c.10861C>G (p.L3621V), ANK2(NM_001148.6):c.10861C>G (p.L3621V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113363442C>G" "" "likely benign" "" "0000521316" "0" "10" "4" "114286207" "114286207" "subst" "0.00241852" "02330" "ANK2_000077" "g.114286207T>A" "" "" "" "ANK2(NM_001148.4):c.10901T>A (p.V3634D), ANK2(NM_001148.6):c.10901T>A (p.V3634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>A" "" "benign" "" "0000521317" "0" "50" "4" "114286207" "114286207" "subst" "0.00241852" "01943" "ANK2_000077" "g.114286207T>A" "" "" "" "ANK2(NM_001148.4):c.10901T>A (p.V3634D), ANK2(NM_001148.6):c.10901T>A (p.V3634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>A" "" "VUS" "" "0000521318" "0" "30" "4" "114286207" "114286207" "subst" "0.00241852" "02326" "ANK2_000077" "g.114286207T>A" "" "" "" "ANK2(NM_001148.4):c.10901T>A (p.V3634D), ANK2(NM_001148.6):c.10901T>A (p.V3634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>A" "" "likely benign" "" "0000521319" "0" "50" "4" "114286207" "114286207" "subst" "8.12949E-6" "02327" "ANK2_000328" "g.114286207T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>C" "" "VUS" "" "0000521320" "0" "50" "4" "114286282" "114286282" "subst" "0.000182982" "02330" "ANK2_000329" "g.114286282G>T" "" "" "" "ANK2(NM_001148.4):c.10976G>T (p.R3659L), ANK2(NM_001148.6):c.10976G>T (p.R3659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365126G>T" "" "VUS" "" "0000521321" "0" "50" "4" "114286282" "114286282" "subst" "0.000182982" "01943" "ANK2_000329" "g.114286282G>T" "" "" "" "ANK2(NM_001148.4):c.10976G>T (p.R3659L), ANK2(NM_001148.6):c.10976G>T (p.R3659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365126G>T" "" "VUS" "" "0000521322" "0" "30" "4" "114286289" "114286289" "subst" "8.13167E-5" "02327" "ANK2_000330" "g.114286289T>C" "" "" "" "ANK2(NM_001386174.1):c.11124T>C (p.S3708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365133T>C" "" "likely benign" "" "0000521323" "0" "10" "4" "114286355" "114286356" "dup" "0" "02330" "ANK2_000331" "g.114286355_114286356dup" "" "" "" "ANK2(NM_001148.6):c.11032+16_11032+17dupTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365199_113365200dup" "" "benign" "" "0000521324" "0" "10" "4" "114286357" "114286359" "del" "0" "02327" "ANK2_000332" "g.114286357_114286359del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365201_113365203del" "" "benign" "" "0000521325" "0" "10" "4" "114286379" "114286388" "dup" "0" "02330" "ANK2_000333" "g.114286379_114286388dup" "" "" "" "ANK2(NM_001148.6):c.11032+40_11032+49dupTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365223_113365232dup" "" "benign" "" "0000521326" "0" "10" "4" "114286381" "114286388" "dup" "0" "02330" "ANK2_000334" "g.114286381_114286388dup" "" "" "" "ANK2(NM_001148.6):c.11032+36_11032+43dupTGTGTGTG, ANK2(NM_001148.6):c.11032+38_11032+45dupTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365225_113365232dup" "" "benign" "" "0000521327" "0" "10" "4" "114286383" "114286388" "dup" "0" "02330" "ANK2_000335" "g.114286383_114286388dup" "" "" "" "ANK2(NM_001148.6):c.11032+40_11032+45dupTGTGTG, ANK2(NM_001148.6):c.11032+44_11032+49dupTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365227_113365232dup" "" "benign" "" "0000521328" "0" "10" "4" "114286385" "114286388" "dup" "0" "02330" "ANK2_000336" "g.114286385_114286388dup" "" "" "" "ANK2(NM_001148.6):c.11032+44_11032+47dupTGTG, ANK2(NM_001148.6):c.11032+46_11032+49dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365229_113365232dup" "" "benign" "" "0000521329" "0" "10" "4" "114286387" "114286388" "del" "0" "02327" "ANK2_000222" "g.114286387_114286388del" "" "" "" "ANK2(NM_001148.6):c.11032+49_11032+50delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365231_113365232del" "" "benign" "" "0000521330" "0" "50" "4" "114288787" "114288787" "subst" "3.25423E-5" "02330" "ANK2_000337" "g.114288787T>G" "" "" "" "ANK2(NM_001148.4):c.11098T>G (p.(Ser3700Ala)), ANK2(NM_001148.6):c.11098T>G (p.S3700A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367631T>G" "" "VUS" "" "0000521331" "0" "50" "4" "114288808" "114288808" "subst" "0.000333488" "02330" "ANK2_000338" "g.114288808G>A" "" "" "" "ANK2(NM_001148.4):c.11119G>A (p.D3707N), ANK2(NM_001148.6):c.11119G>A (p.D3707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367652G>A" "" "VUS" "" "0000521332" "0" "30" "4" "114288808" "114288808" "subst" "0.000333488" "01943" "ANK2_000338" "g.114288808G>A" "" "" "" "ANK2(NM_001148.4):c.11119G>A (p.D3707N), ANK2(NM_001148.6):c.11119G>A (p.D3707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367652G>A" "" "likely benign" "" "0000521333" "0" "30" "4" "114288871" "114288871" "subst" "3.25169E-5" "02327" "ANK2_000339" "g.114288871G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367715G>A" "" "likely benign" "" "0000521334" "0" "30" "4" "114288982" "114288982" "subst" "1.22357E-5" "02327" "ANK2_000340" "g.114288982T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367826T>G" "" "likely benign" "" "0000521335" "0" "30" "4" "114290874" "114290874" "subst" "3.25847E-5" "02327" "ANK2_000341" "g.114290874G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113369718G>A" "" "likely benign" "" "0000521336" "0" "30" "4" "114290945" "114290945" "subst" "3.26475E-5" "02327" "ANK2_000342" "g.114290945A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113369789A>G" "" "likely benign" "" "0000521337" "0" "30" "4" "114294462" "114294462" "subst" "0.0010088" "02330" "ANK2_000078" "g.114294462C>T" "" "" "" "ANK2(NM_001148.4):c.11716C>T (p.R3906W, p.(Arg3906Trp)), ANK2(NM_001148.6):c.11716C>T (p.R3906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373306C>T" "" "likely benign" "" "0000521338" "0" "50" "4" "114294462" "114294462" "subst" "0.0010088" "02326" "ANK2_000078" "g.114294462C>T" "" "" "" "ANK2(NM_001148.4):c.11716C>T (p.R3906W, p.(Arg3906Trp)), ANK2(NM_001148.6):c.11716C>T (p.R3906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373306C>T" "" "VUS" "" "0000521339" "0" "10" "4" "114294536" "114294536" "subst" "0.00389551" "02327" "ANK2_000244" "g.114294536C>T" "" "" "" "ANK2(NM_001148.6):c.11790C>T (p.I3930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373380C>T" "" "benign" "" "0000521340" "0" "30" "4" "114294537" "114294537" "subst" "0.0028544" "02330" "ANK2_000079" "g.114294537G>A" "" "" "" "ANK2(NM_001148.4):c.11791G>A (p.E3931K, p.(Glu3931Lys)), ANK2(NM_001148.6):c.11791G>A (p.E3931K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373381G>A" "" "likely benign" "" "0000521341" "0" "50" "4" "114294537" "114294537" "subst" "0.0028544" "01943" "ANK2_000079" "g.114294537G>A" "" "" "" "ANK2(NM_001148.4):c.11791G>A (p.E3931K, p.(Glu3931Lys)), ANK2(NM_001148.6):c.11791G>A (p.E3931K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373381G>A" "" "VUS" "" "0000521342" "0" "10" "4" "114294537" "114294537" "subst" "0.0028544" "02326" "ANK2_000079" "g.114294537G>A" "" "" "" "ANK2(NM_001148.4):c.11791G>A (p.E3931K, p.(Glu3931Lys)), ANK2(NM_001148.6):c.11791G>A (p.E3931K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373381G>A" "" "benign" "" "0000521343" "0" "10" "4" "114295926" "114295926" "subst" "0" "02330" "ANK2_000343" "g.114295926T>C" "" "" "" "ANK2(NM_001148.6):c.11859+1321T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113374770T>C" "" "benign" "" "0000521344" "0" "30" "4" "114296076" "114296076" "subst" "0" "02330" "ANK2_000344" "g.114296076C>T" "" "" "" "ANK2(NM_001148.6):c.11859+1471C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113374920C>T" "" "likely benign" "" "0000608982" "0" "30" "4" "114067037" "114067037" "subst" "0" "02327" "ANK2_000345" "g.114067037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113145881G>A" "" "likely benign" "" "0000608983" "0" "50" "4" "114120235" "114120235" "subst" "0" "02327" "ANK2_000347" "g.114120235G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113199079G>C" "" "VUS" "" "0000608984" "0" "30" "4" "114161676" "114161676" "subst" "8.12341E-6" "02327" "ANK2_000348" "g.114161676C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113240520C>T" "" "likely benign" "" "0000608985" "0" "30" "4" "114177010" "114177010" "subst" "4.46897E-5" "02327" "ANK2_000122" "g.114177010C>T" "" "" "" "ANK2(NM_001148.6):c.1110C>T (p.H370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113255854C>T" "" "likely benign" "" "0000608986" "0" "30" "4" "114186047" "114186047" "subst" "0" "02327" "ANK2_000349" "g.114186047T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113264891T>C" "" "likely benign" "" "0000608987" "0" "50" "4" "114186089" "114186089" "subst" "0" "02327" "ANK2_000109" "g.114186089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113264933G>A" "" "VUS" "" "0000608988" "0" "50" "4" "114199026" "114199026" "subst" "0" "02327" "ANK2_000350" "g.114199026T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113277870T>C" "" "VUS" "" "0000608989" "0" "30" "4" "114204016" "114204016" "subst" "1.62746E-5" "02327" "ANK2_000351" "g.114204016C>T" "" "" "" "ANK2(NM_001386174.1):c.2118C>T (p.H706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113282860C>T" "" "likely benign" "" "0000608990" "0" "30" "4" "114209630" "114209630" "subst" "3.25034E-5" "02327" "ANK2_000275" "g.114209630C>T" "" "" "" "ANK2(NM_001148.6):c.2265C>T (p.N755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113288474C>T" "" "likely benign" "" "0000608991" "0" "50" "4" "114213575" "114213575" "subst" "1.27739E-5" "02327" "ANK2_000352" "g.114213575G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113292419G>A" "" "VUS" "" "0000608992" "0" "50" "4" "114223960" "114223960" "subst" "1.21825E-5" "02330" "ANK2_000353" "g.114223960C>T" "" "" "" "ANK2(NM_001148.6):c.2513C>T (p.T838M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113302804C>T" "" "VUS" "" "0000608993" "0" "50" "4" "114239712" "114239712" "subst" "7.32481E-5" "02327" "ANK2_000354" "g.114239712C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113318556C>T" "" "VUS" "" "0000608994" "0" "50" "4" "114262970" "114262970" "subst" "0" "02327" "ANK2_000355" "g.114262970T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113341814T>C" "" "VUS" "" "0000608995" "0" "10" "4" "114263087" "114263087" "dup" "0" "02330" "ANK2_000356" "g.114263087dup" "" "" "" "ANK2(NM_001148.6):c.4122+15dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113341931dup" "" "benign" "" "0000608996" "0" "50" "4" "114267062" "114267062" "subst" "4.0665E-6" "02327" "ANK2_000357" "g.114267062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113345906G>A" "" "VUS" "" "0000608997" "0" "30" "4" "114269420" "114269420" "subst" "4.07057E-5" "02327" "ANK2_000358" "g.114269420T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113348264T>C" "" "likely benign" "" "0000608998" "0" "50" "4" "114274230" "114274230" "subst" "0.000183223" "02330" "ANK2_000359" "g.114274230G>C" "" "" "" "ANK2(NM_001148.6):c.4456G>C (p.V1486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353074G>C" "" "VUS" "" "0000608999" "0" "30" "4" "114274230" "114274230" "subst" "0.000183223" "02327" "ANK2_000359" "g.114274230G>C" "" "" "" "ANK2(NM_001148.6):c.4456G>C (p.V1486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353074G>C" "" "likely benign" "" "0000609000" "0" "50" "4" "114274422" "114274422" "subst" "0" "02327" "ANK2_000361" "g.114274422G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353266G>C" "" "VUS" "" "0000609001" "0" "30" "4" "114274427" "114274427" "subst" "4.89125E-5" "02327" "ANK2_000362" "g.114274427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353271C>T" "" "likely benign" "" "0000609002" "0" "30" "4" "114275468" "114275468" "subst" "0" "02327" "ANK2_000363" "g.114275468A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354312A>G" "" "likely benign" "" "0000609003" "0" "50" "4" "114275532" "114275532" "subst" "7.74196E-5" "02327" "ANK2_000067" "g.114275532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354376G>A" "" "VUS" "" "0000609004" "0" "30" "4" "114275917" "114275917" "subst" "7.74448E-5" "02327" "ANK2_000293" "g.114275917A>G" "" "" "" "ANK2(NM_001148.4):c.6143A>G (p.Q2048R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354761A>G" "" "likely benign" "" "0000609005" "0" "10" "4" "114275950" "114275950" "subst" "0.000675824" "02327" "ANK2_000164" "g.114275950C>T" "" "" "" "ANK2(NM_001148.4):c.6176C>T (p.T2059M), ANK2(NM_001148.6):c.6176C>T (p.T2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113354794C>T" "" "benign" "" "0000609007" "0" "30" "4" "114276406" "114276406" "subst" "1.63191E-5" "02327" "ANK2_000364" "g.114276406C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355250C>T" "" "likely benign" "" "0000609008" "0" "10" "4" "114276422" "114276422" "subst" "0.00220435" "02327" "ANK2_000169" "g.114276422C>G" "" "" "" "ANK2(NM_001148.4):c.6648C>G (p.G2216=), ANK2(NM_001148.6):c.6648C>G (p.G2216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355266C>G" "" "benign" "" "0000609009" "0" "30" "4" "114276905" "114276905" "subst" "7.33419E-5" "02327" "ANK2_000175" "g.114276905C>T" "" "" "" "ANK2(NM_001148.6):c.7131C>T (p.D2377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355749C>T" "" "likely benign" "" "0000609010" "0" "30" "4" "114277094" "114277094" "subst" "8.95809E-5" "02327" "ANK2_000177" "g.114277094C>T" "" "" "" "ANK2(NM_001148.6):c.7320C>T (p.S2440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355938C>T" "" "likely benign" "" "0000609011" "0" "30" "4" "114277232" "114277232" "subst" "5.30331E-5" "01943" "ANK2_000366" "g.114277232C>G" "" "" "" "ANK2(NM_001148.4):c.7458C>G (p.H2486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356076C>G" "" "likely benign" "" "0000609012" "0" "30" "4" "114277273" "114277273" "subst" "5.30115E-5" "02327" "ANK2_000367" "g.114277273C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356117C>T" "" "likely benign" "" "0000609013" "0" "30" "4" "114277532" "114277532" "subst" "0" "02327" "ANK2_000368" "g.114277532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356376G>A" "" "likely benign" "" "0000609014" "0" "30" "4" "114277940" "114277940" "subst" "4.07943E-5" "02327" "ANK2_000310" "g.114277940G>A" "" "" "" "ANK2(NM_001148.4):c.8166G>A (p.M2722I), ANK2(NM_001148.6):c.8166G>A (p.M2722I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113356784G>A" "" "likely benign" "" "0000609015" "0" "10" "4" "114278542" "114278542" "subst" "0.000936223" "02330" "ANK2_000369" "g.114278542A>G" "" "" "" "ANK2(NM_001148.6):c.8768A>G (p.Q2923R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357386A>G" "" "benign" "" "0000609016" "0" "30" "4" "114278634" "114278634" "subst" "4.0699E-6" "02327" "ANK2_000370" "g.114278634T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357478T>A" "" "likely benign" "" "0000609017" "0" "10" "4" "114278927" "114278927" "subst" "9.37872E-5" "02327" "ANK2_000197" "g.114278927C>T" "" "" "" "ANK2(NM_001148.6):c.9153C>T (p.D3051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357771C>T" "" "benign" "" "0000609018" "0" "50" "4" "114278986" "114278986" "subst" "8.161E-6" "02327" "ANK2_000371" "g.114278986T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357830T>G" "" "VUS" "" "0000609019" "0" "30" "4" "114279300" "114279300" "subst" "0.000175153" "02327" "ANK2_000200" "g.114279300G>T" "" "" "" "ANK2(NM_001148.4):c.9526G>T (p.D3176Y), ANK2(NM_001148.6):c.9526G>T (p.D3176Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358144G>T" "" "likely benign" "" "0000609020" "0" "30" "4" "114279414" "114279414" "subst" "0" "02327" "ANK2_000372" "g.114279414A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358258A>G" "" "likely benign" "" "0000609021" "0" "50" "4" "114279603" "114279603" "subst" "1.22286E-5" "02327" "ANK2_000373" "g.114279603T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358447T>C" "" "VUS" "" "0000609022" "0" "50" "4" "114279900" "114279900" "subst" "0" "02327" "ANK2_000374" "g.114279900G>A" "" "" "" "ANK2(NM_001148.4):c.10126G>A (p.G3376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358744G>A" "" "VUS" "" "0000609023" "0" "50" "4" "114280096" "114280096" "subst" "9.36391E-5" "02327" "ANK2_000375" "g.114280096G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113358940G>A" "" "VUS" "" "0000609024" "0" "50" "4" "114282005" "114282005" "subst" "8.57227E-5" "02327" "ANK2_000376" "g.114282005G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113360849G>A" "" "VUS" "" "0000609025" "0" "30" "4" "114286207" "114286207" "subst" "0.00241852" "02325" "ANK2_000077" "g.114286207T>A" "" "" "" "ANK2(NM_001148.4):c.10901T>A (p.V3634D), ANK2(NM_001148.6):c.10901T>A (p.V3634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>A" "" "likely benign" "" "0000609026" "0" "10" "4" "114286207" "114286207" "subst" "0.00241852" "02327" "ANK2_000077" "g.114286207T>A" "" "" "" "ANK2(NM_001148.4):c.10901T>A (p.V3634D), ANK2(NM_001148.6):c.10901T>A (p.V3634D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365051T>A" "" "benign" "" "0000609027" "0" "30" "4" "114286282" "114286282" "subst" "0.000182982" "02327" "ANK2_000329" "g.114286282G>T" "" "" "" "ANK2(NM_001148.4):c.10976G>T (p.R3659L), ANK2(NM_001148.6):c.10976G>T (p.R3659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113365126G>T" "" "likely benign" "" "0000609028" "0" "50" "4" "114288907" "114288907" "subst" "0.00238235" "02327" "ANK2_000234" "g.114288907C>A" "" "" "" "ANK2(NM_001148.6):c.11218C>A (p.L3740I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367751C>A" "" "VUS" "" "0000609029" "0" "30" "4" "114288920" "114288920" "subst" "0.00060987" "02327" "ANK2_000235" "g.114288920C>A" "" "" "" "ANK2(NM_001148.4):c.11231C>A (p.T3744N), ANK2(NM_001148.6):c.11231C>A (p.T3744N, p.(Thr3744Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113367764C>A" "" "likely benign" "" "0000609030" "0" "10" "4" "114290816" "114290816" "subst" "0.000630727" "02330" "ANK2_000377" "g.114290816G>C" "" "" "" "ANK2(NM_001148.4):c.11465G>C (p.G3822A), ANK2(NM_001148.6):c.11465G>C (p.G3822A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113369660G>C" "" "benign" "" "0000609031" "0" "50" "4" "114294321" "114294321" "subst" "8.13107E-6" "02327" "ANK2_000378" "g.114294321G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373165G>T" "" "VUS" "" "0000609032" "0" "30" "4" "114294462" "114294462" "subst" "0.0010088" "02327" "ANK2_000078" "g.114294462C>T" "" "" "" "ANK2(NM_001148.4):c.11716C>T (p.R3906W, p.(Arg3906Trp)), ANK2(NM_001148.6):c.11716C>T (p.R3906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373306C>T" "" "likely benign" "" "0000609033" "0" "50" "4" "114294528" "114294528" "subst" "0" "02325" "ANK2_000379" "g.114294528G>C" "" "" "" "ANK2(NM_001148.6):c.11782G>C (p.V3928L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373372G>C" "" "VUS" "" "0000609034" "0" "30" "4" "114294537" "114294537" "subst" "0.0028544" "02327" "ANK2_000079" "g.114294537G>A" "" "" "" "ANK2(NM_001148.4):c.11791G>A (p.E3931K, p.(Glu3931Lys)), ANK2(NM_001148.6):c.11791G>A (p.E3931K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113373381G>A" "" "likely benign" "" "0000621339" "0" "50" "4" "114072244" "114072244" "subst" "0" "02330" "ANK2_000346" "g.114072244C>G" "" "" "" "ANK2(NM_001354241.2):c.93C>G (p.C31W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113151088C>G" "" "VUS" "" "0000621340" "0" "30" "4" "114274328" "114274328" "subst" "3.25977E-5" "02326" "ANK2_000360" "g.114274328C>T" "" "" "" "ANK2(NM_001148.4):c.4554C>T (p.T1518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113353172C>T" "" "likely benign" "" "0000621341" "0" "10" "4" "114276686" "114276686" "subst" "0.000518571" "02330" "ANK2_000365" "g.114276686T>C" "" "" "" "ANK2(NM_001148.4):c.6912T>C (p.T2304=), ANK2(NM_001148.6):c.6912T>C (p.T2304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355530T>C" "" "benign" "" "0000624938" "0" "50" "4" "114279453" "114279453" "subst" "0.00012641" "01164" "ANK2_000202" "g.114279453A>C" "" "" "" "" "" "Germline" "" "rs140604600" "0" "" "" "g.113358297A>C" "" "VUS" "ACMG" "0000626444" "0" "50" "4" "114186108" "114186108" "subst" "0" "01164" "ANK2_000380" "g.114186108G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.113264952G>A" "" "VUS" "ACMG" "0000651378" "1" "50" "4" "114177036" "114177036" "subst" "1.62553E-5" "03575" "ANK2_000381" "g.114177036G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs186264035}" "Germline" "" "rs186264035" "0" "" "" "g.113255880G>A" "" "VUS" "" "0000651379" "1" "50" "4" "114239712" "114239712" "subst" "7.32481E-5" "03575" "ANK2_000354" "g.114239712C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200524407}" "Germline" "" "rs200524407" "0" "" "" "g.113318556C>T" "" "VUS" "" "0000651380" "1" "50" "4" "114274276" "114274276" "subst" "2.03557E-5" "03575" "ANK2_000382" "g.114274276C>T" "1/2761 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201071074}" "Germline" "" "rs201071074" "0" "" "" "g.113353120C>T" "" "VUS" "" "0000651381" "1" "30" "4" "114279628" "114279628" "subst" "0.00866802" "03575" "ANK2_000114" "g.114279628T>C" "20/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs36210417}" "Germline" "" "rs36210417" "0" "" "" "g.113358472T>C" "" "likely benign" "" "0000651382" "1" "30" "4" "114279674" "114279674" "subst" "0.019288" "03575" "ANK2_000115" "g.114279674C>A" "49/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "49 heterozygous, no homozygous; {DB:CLININrs34270799}" "Germline" "" "rs34270799" "0" "" "" "g.113358518C>A" "" "likely benign" "" "0000651384" "1" "30" "4" "114294537" "114294537" "subst" "0.0028544" "03575" "ANK2_000079" "g.114294537G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs45454496}" "Germline" "" "rs45454496" "0" "" "" "g.113373381G>A" "" "likely benign" "" "0000655072" "0" "10" "4" "114117535" "114117535" "subst" "0.000151376" "02330" "ANK2_000383" "g.114117535C>T" "" "" "" "ANK2(NM_001148.6):c.198C>T (p.N66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113196379C>T" "" "benign" "" "0000655073" "0" "50" "4" "114276828" "114276833" "del" "0" "02330" "ANK2_000384" "g.114276828_114276833del" "" "" "" "ANK2(NM_001148.6):c.7054_7059delGGTCAA (p.G2352_Q2353del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113355672_113355677del" "" "VUS" "" "0000655074" "0" "30" "4" "114278677" "114278677" "subst" "0.000113946" "01943" "ANK2_000192" "g.114278677T>C" "" "" "" "ANK2(NM_001148.4):c.8903T>C (p.V2968A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113357521T>C" "" "likely benign" "" "0000677157" "0" "30" "4" "114117568" "114117568" "subst" "0.000351124" "02327" "ANK2_000264" "g.114117568G>A" "" "" "" "ANK2(NM_001148.4):c.231G>A (p.V77=), ANK2(NM_001386174.1):c.282G>A (p.V94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677158" "0" "30" "4" "114208831" "114208831" "subst" "4.06471E-6" "02327" "ANK2_000385" "g.114208831A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677159" "0" "10" "4" "114251465" "114251465" "subst" "1.21901E-5" "02330" "ANK2_000386" "g.114251465G>T" "" "" "" "ANK2(NM_001148.6):c.2964G>T (p.G988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677160" "0" "10" "4" "114274518" "114274518" "subst" "0.0022198" "02326" "ANK2_000153" "g.114274518C>T" "" "" "" "ANK2(NM_001148.4):c.4744C>T (p.R1582W), ANK2(NM_001148.6):c.4744C>T (p.R1582W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677161" "0" "30" "4" "114277642" "114277642" "subst" "2.03787E-5" "02327" "ANK2_000387" "g.114277642C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677162" "0" "30" "4" "114277916" "114277916" "subst" "4.07355E-6" "02326" "ANK2_000388" "g.114277916T>A" "" "" "" "ANK2(NM_001148.4):c.8142T>A (p.V2714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677163" "0" "30" "4" "114279330" "114279330" "subst" "1.22181E-5" "02327" "ANK2_000389" "g.114279330G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677164" "0" "30" "4" "114280434" "114280434" "subst" "1.63066E-5" "02326" "ANK2_000390" "g.114280434A>T" "" "" "" "ANK2(NM_001148.4):c.10660A>T (p.N3554Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677165" "0" "50" "4" "114288920" "114288920" "subst" "0.00060987" "01943" "ANK2_000235" "g.114288920C>A" "" "" "" "ANK2(NM_001148.4):c.11231C>A (p.T3744N), ANK2(NM_001148.6):c.11231C>A (p.T3744N, p.(Thr3744Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677166" "0" "30" "4" "114290844" "114290844" "subst" "0.000142464" "02327" "ANK2_000391" "g.114290844G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677167" "0" "30" "4" "114290875" "114290875" "subst" "0.000203664" "02327" "ANK2_000392" "g.114290875C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677168" "0" "50" "4" "114294462" "114294462" "subst" "0.0010088" "01943" "ANK2_000078" "g.114294462C>T" "" "" "" "ANK2(NM_001148.4):c.11716C>T (p.R3906W, p.(Arg3906Trp)), ANK2(NM_001148.6):c.11716C>T (p.R3906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677169" "0" "30" "4" "114294553" "114294553" "subst" "3.65907E-5" "02327" "ANK2_000393" "g.114294553A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689200" "0" "10" "4" "114153423" "114153423" "subst" "8.13312E-6" "02330" "ANK2_000394" "g.114153423T>C" "" "" "" "ANK2(NM_001148.6):c.483+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689201" "0" "10" "4" "114208743" "114208743" "subst" "0.000537131" "02330" "ANK2_000395" "g.114208743G>T" "" "" "" "ANK2(NM_001148.6):c.2080-18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689202" "0" "30" "4" "114238896" "114238896" "subst" "0.000142144" "01943" "ANK2_000259" "g.114238896T>A" "" "" "" "ANK2(NM_001148.4):c.2727T>A (p.T909=), ANK2(NM_001148.6):c.2727T>A (p.T909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689203" "0" "30" "4" "114238896" "114238896" "subst" "0.000142144" "02326" "ANK2_000259" "g.114238896T>A" "" "" "" "ANK2(NM_001148.4):c.2727T>A (p.T909=), ANK2(NM_001148.6):c.2727T>A (p.T909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689204" "0" "30" "4" "114254240" "114254240" "subst" "0.00133219" "01943" "ANK2_000282" "g.114254240G>T" "" "" "" "ANK2(NM_001148.4):c.3255G>T (p.A1085=), ANK2(NM_001148.6):c.3255G>T (p.A1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689205" "0" "10" "4" "114254351" "114254351" "subst" "0.00129581" "02326" "ANK2_000140" "g.114254351C>T" "" "" "" "ANK2(NM_001148.4):c.3366C>T (p.N1122=), ANK2(NM_001148.6):c.3366C>T (p.N1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689206" "0" "10" "4" "114257165" "114257165" "subst" "0.00135713" "02326" "ANK2_000143" "g.114257165C>T" "" "" "" "ANK2(NM_001148.4):c.3543C>T (p.A1181=), ANK2(NM_001148.6):c.3543C>T (p.A1181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689207" "0" "10" "4" "114264202" "114264202" "subst" "0.0013574" "02326" "ANK2_000148" "g.114264202T>C" "" "" "" "ANK2(NM_001148.4):c.4152T>C (p.D1384=), ANK2(NM_001148.6):c.4152T>C (p.D1384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689208" "0" "30" "4" "114274965" "114274965" "subst" "0" "01943" "ANK2_000396" "g.114274965G>T" "" "" "" "ANK2(NM_001148.4):c.5191G>T (p.G1731C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689209" "0" "30" "4" "114275552" "114275552" "subst" "4.06693E-6" "02326" "ANK2_000161" "g.114275552G>A" "" "" "" "ANK2(NM_001148.4):c.5778G>A (p.P1926=), ANK2(NM_001148.6):c.5778G>A (p.P1926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689210" "0" "50" "4" "114279900" "114279900" "subst" "0" "01943" "ANK2_000374" "g.114279900G>A" "" "" "" "ANK2(NM_001148.4):c.10126G>A (p.G3376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689211" "0" "10" "4" "114286348" "114286348" "subst" "0" "02330" "ANK2_000397" "g.114286348T>A" "" "" "" "ANK2(NM_001148.6):c.11032+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689212" "0" "10" "4" "114290816" "114290816" "subst" "0.000630727" "02326" "ANK2_000377" "g.114290816G>C" "" "" "" "ANK2(NM_001148.4):c.11465G>C (p.G3822A), ANK2(NM_001148.6):c.11465G>C (p.G3822A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689213" "0" "10" "4" "114294348" "114294348" "subst" "0.000174777" "02330" "ANK2_000398" "g.114294348T>A" "" "" "" "ANK2(NM_001148.6):c.11694+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000709012" "0" "70" "4" "114264208" "114264208" "subst" "0" "01602" "ANK2_000399" "g.114264208C>G" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719702" "0" "30" "4" "114117568" "114117568" "subst" "0.000351124" "02326" "ANK2_000264" "g.114117568G>A" "" "" "" "ANK2(NM_001148.4):c.231G>A (p.V77=), ANK2(NM_001386174.1):c.282G>A (p.V94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719703" "0" "30" "4" "114209614" "114209614" "subst" "0.000276205" "01943" "ANK2_000130" "g.114209614A>G" "" "" "" "ANK2(NM_001148.4):c.2249A>G (p.Q750R, p.(Gln750Arg)), ANK2(NM_001148.6):c.2249A>G (p.Q750R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719704" "0" "30" "4" "114267094" "114267094" "subst" "9.35225E-5" "02326" "ANK2_000151" "g.114267094A>G" "" "" "" "ANK2(NM_001148.4):c.4287A>G (p.S1429=), ANK2(NM_001148.6):c.4287A>G (p.S1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719705" "0" "30" "4" "114275200" "114275200" "subst" "2.03727E-5" "01943" "ANK2_000400" "g.114275200C>T" "" "" "" "ANK2(NM_001148.4):c.5426C>T (p.A1809V, p.(Ala1809Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719706" "0" "30" "4" "114275950" "114275950" "subst" "0.000675824" "01943" "ANK2_000164" "g.114275950C>T" "" "" "" "ANK2(NM_001148.4):c.6176C>T (p.T2059M), ANK2(NM_001148.6):c.6176C>T (p.T2059M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719707" "0" "30" "4" "114276407" "114276407" "subst" "0.00063647" "02326" "ANK2_000296" "g.114276407C>T" "" "" "" "ANK2(NM_001148.4):c.6633C>T (p.A2211=), ANK2(NM_001148.6):c.6633C>T (p.A2211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719708" "0" "50" "4" "114277041" "114277041" "subst" "4.07216E-6" "02330" "ANK2_000401" "g.114277041G>T" "" "" "" "ANK2(NM_001148.6):c.7267G>T (p.A2423S), ANK2(NM_001386174.1):c.7408G>T (p.A2470S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719709" "0" "30" "4" "114277262" "114277262" "subst" "0.000660691" "02326" "ANK2_000179" "g.114277262A>G" "" "" "" "ANK2(NM_001148.4):c.7488A>G (p.T2496=), ANK2(NM_001148.6):c.7488A>G (p.T2496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719710" "0" "50" "4" "114278229" "114278229" "subst" "0" "02330" "ANK2_000189" "g.114278229G>A" "" "" "" "ANK2(NM_001148.4):c.8455G>A (p.E2819K), ANK2(NM_001148.6):c.8455G>A (p.E2819K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719711" "0" "30" "4" "114284598" "114284598" "subst" "0.000659035" "01943" "ANK2_000212" "g.114284598C>G" "" "" "" "ANK2(NM_001148.4):c.10861C>G (p.L3621V), ANK2(NM_001148.6):c.10861C>G (p.L3621V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719712" "0" "30" "4" "114290892" "114290892" "subst" "0" "01943" "ANK2_000402" "g.114290892A>G" "" "" "" "ANK2(NM_001148.4):c.11541A>G (p.V3847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801465" "0" "50" "4" "114176976" "114176976" "subst" "0" "02330" "ANK2_000403" "g.114176976A>C" "" "" "" "ANK2(NM_001148.6):c.1076A>C (p.D359A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801466" "0" "10" "4" "114179262" "114179262" "subst" "0.00136614" "02330" "ANK2_000272" "g.114179262A>G" "" "" "" "ANK2(NM_001148.6):c.1245A>G (p.E415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801467" "0" "10" "4" "114199722" "114199722" "subst" "0.00136555" "02330" "ANK2_000404" "g.114199722C>G" "" "" "" "ANK2(NM_001148.6):c.1881+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801468" "0" "10" "4" "114203944" "114203944" "subst" "0.00136574" "02330" "ANK2_000273" "g.114203944A>G" "" "" "" "ANK2(NM_001148.6):c.1995A>G (p.P665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801469" "0" "50" "4" "114214691" "114214693" "del" "0" "02325" "ANK2_000257" "g.114214691_114214693del" "" "" "" "ANK2(NM_001148.6):c.2472_2474delCAC (p.T826del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801470" "0" "50" "4" "114279599" "114279599" "subst" "0.000293456" "02330" "ANK2_000319" "g.114279599T>G" "" "" "" "ANK2(NM_001148.6):c.9825T>G (p.D3275E, p.(Asp3275Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801471" "0" "10" "4" "114294464" "114294464" "subst" "0.000333545" "02330" "ANK2_000405" "g.114294464G>A" "" "" "" "ANK2(NM_001148.6):c.11718G>A (p.R3906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850487" "0" "30" "4" "114153349" "114153349" "subst" "0" "02327" "ANK2_000266" "g.114153349A>G" "" "" "" "ANK2(NM_001148.4):c.417A>G (p.Q139=), ANK2(NM_001386174.1):c.468A>G (p.Q156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850488" "0" "30" "4" "114161688" "114161688" "subst" "9.74778E-5" "02327" "ANK2_000406" "g.114161688C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850489" "0" "30" "4" "114253138" "114253138" "subst" "9.74722E-5" "02327" "ANK2_000407" "g.114253138C>T" "" "" "" "ANK2(NM_001148.6):c.3136C>T (p.L1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850490" "0" "50" "4" "114257028" "114257028" "subst" "0" "02330" "ANK2_000408" "g.114257028A>G" "" "" "" "ANK2(NM_001148.6):c.3406A>G (p.K1136E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850491" "0" "50" "4" "114262866" "114262866" "subst" "0" "02327" "ANK2_000409" "g.114262866C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850492" "0" "30" "4" "114274585" "114274585" "subst" "0.000155207" "02330" "ANK2_000410" "g.114274585G>A" "" "" "" "ANK2(NM_001148.6):c.4811G>A (p.R1604K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850493" "0" "30" "4" "114274620" "114274620" "subst" "0" "02327" "ANK2_000411" "g.114274620T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850494" "0" "30" "4" "114274988" "114274988" "subst" "0" "02327" "ANK2_000412" "g.114274988T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850495" "0" "30" "4" "114275601" "114275601" "subst" "2.84812E-5" "02327" "ANK2_000413" "g.114275601G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850496" "0" "30" "4" "114276002" "114276002" "subst" "0.000345905" "02327" "ANK2_000414" "g.114276002G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850497" "0" "10" "4" "114276408" "114276408" "subst" "0.00372906" "02327" "ANK2_000168" "g.114276408G>A" "" "" "" "ANK2(NM_001148.6):c.6634G>A (p.G2212S, p.(Gly2212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850498" "0" "30" "4" "114276628" "114276628" "subst" "0.000135608" "02327" "ANK2_000415" "g.114276628T>C" "" "" "" "ANK2(NM_001386174.1):c.6995T>C (p.I2332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850499" "0" "30" "4" "114276942" "114276942" "subst" "5.29842E-5" "02327" "ANK2_000301" "g.114276942A>C" "" "" "" "ANK2(NM_001148.4):c.7168A>C (p.(Lys2390Gln)), ANK2(NM_001148.6):c.7168A>C (p.K2390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850500" "0" "30" "4" "114276970" "114276970" "subst" "4.07598E-6" "02327" "ANK2_000416" "g.114276970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850501" "0" "30" "4" "114277170" "114277170" "subst" "4.88966E-5" "02327" "ANK2_000417" "g.114277170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850502" "0" "50" "4" "114277309" "114277309" "subst" "4.07488E-6" "02327" "ANK2_000418" "g.114277309A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850503" "0" "30" "4" "114279453" "114279453" "subst" "0.00012641" "02327" "ANK2_000202" "g.114279453A>C" "" "" "" "ANK2(NM_001148.6):c.9679A>C (p.T3227P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850504" "0" "30" "4" "114279464" "114279464" "subst" "9.37658E-5" "02327" "ANK2_000420" "g.114279464G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850505" "0" "30" "4" "114279806" "114279806" "subst" "4.06825E-5" "02327" "ANK2_000323" "g.114279806A>G" "" "" "" "ANK2(NM_001148.6):c.10032A>G (p.P3344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850506" "0" "10" "4" "114279818" "114279818" "subst" "0" "02330" "ANK2_000421" "g.114279818C>G" "" "" "" "ANK2(NM_001148.6):c.10044C>G (p.L3348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850507" "0" "30" "4" "114280302" "114280302" "subst" "4.07302E-6" "02327" "ANK2_000422" "g.114280302G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850508" "0" "30" "4" "114288808" "114288808" "subst" "0.000333488" "02327" "ANK2_000338" "g.114288808G>A" "" "" "" "ANK2(NM_001148.4):c.11119G>A (p.D3707N), ANK2(NM_001148.6):c.11119G>A (p.D3707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850509" "0" "30" "4" "114293762" "114293762" "subst" "0" "02327" "ANK2_000424" "g.114293762G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859210" "0" "10" "4" "114253138" "114253138" "subst" "9.74722E-5" "02330" "ANK2_000407" "g.114253138C>T" "" "" "" "ANK2(NM_001148.6):c.3136C>T (p.L1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859211" "0" "50" "4" "114278098" "114278098" "subst" "6.95729E-5" "02330" "ANK2_000419" "g.114278098A>G" "" "" "" "ANK2(NM_001148.6):c.8324A>G (p.H2775R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859212" "0" "30" "4" "114278502" "114278502" "subst" "2.44176E-5" "01943" "ANK2_000315" "g.114278502G>A" "" "" "" "ANK2(NM_001148.4):c.8728G>A (p.V2910M), ANK2(NM_001148.6):c.8728G>A (p.V2910M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859213" "0" "50" "4" "114290960" "114290960" "subst" "0" "02330" "ANK2_000423" "g.114290960A>C" "" "" "" "ANK2(NM_001148.6):c.11609A>C (p.K3870T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886087" "0" "30" "4" "113825611" "113825611" "subst" "0.00192803" "02327" "ANK2_000425" "g.113825611G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886088" "0" "50" "4" "114038510" "114038510" "dup" "0" "02330" "ANK2_000426" "g.114038510dup" "" "" "" "ANK2(NM_001354230.2):c.65dupA (p.N22Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886089" "0" "10" "4" "114161754" "114161754" "subst" "0.000317145" "02330" "ANK2_000427" "g.114161754A>G" "" "" "" "ANK2(NM_001148.6):c.792+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886090" "0" "50" "4" "114170977" "114170977" "subst" "8.13491E-6" "02327" "ANK2_000428" "g.114170977C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886091" "0" "30" "4" "114267044" "114267044" "subst" "4.06693E-6" "02326" "ANK2_000429" "g.114267044T>G" "" "" "" "ANK2(NM_001148.4):c.4249-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886092" "0" "10" "4" "114274301" "114274301" "subst" "0" "02330" "ANK2_000430" "g.114274301G>A" "" "" "" "ANK2(NM_001148.6):c.4527G>A (p.E1509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886093" "0" "30" "4" "114275672" "114275672" "subst" "4.07004E-6" "02326" "ANK2_000431" "g.114275672T>C" "" "" "" "ANK2(NM_001148.4):c.5898T>C (p.S1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886094" "0" "50" "4" "114276279" "114276279" "subst" "6.10734E-5" "02325" "ANK2_000295" "g.114276279G>A" "" "" "" "ANK2(NM_001148.4):c.6505G>A (p.V2169I), ANK2(NM_001148.6):c.6505G>A (p.V2169I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886095" "0" "10" "4" "114276500" "114276500" "subst" "2.86296E-5" "02330" "ANK2_000432" "g.114276500G>A" "" "" "" "ANK2(NM_001148.6):c.6726G>A (p.T2242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886096" "0" "30" "4" "114276686" "114276686" "subst" "0.000518571" "02326" "ANK2_000365" "g.114276686T>C" "" "" "" "ANK2(NM_001148.4):c.6912T>C (p.T2304=), ANK2(NM_001148.6):c.6912T>C (p.T2304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886097" "0" "30" "4" "114277025" "114277025" "subst" "0.000289135" "02327" "ANK2_000433" "g.114277025T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886098" "0" "10" "4" "114277676" "114277676" "subst" "0.00143402" "02326" "ANK2_000181" "g.114277676G>A" "" "" "" "ANK2(NM_001148.4):c.7902G>A (p.V2634=), ANK2(NM_001148.6):c.7902G>A (p.V2634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886099" "0" "10" "4" "114277717" "114277717" "subst" "0.000888078" "02330" "ANK2_000434" "g.114277717G>A" "" "" "" "ANK2(NM_001148.6):c.7943G>A (p.G2648D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886100" "0" "30" "4" "114277898" "114277898" "subst" "4.07097E-5" "02326" "ANK2_000435" "g.114277898A>G" "" "" "" "ANK2(NM_001148.4):c.8124A>G (p.V2708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886101" "0" "10" "4" "114278750" "114278750" "subst" "0" "02330" "ANK2_000436" "g.114278750C>T" "" "" "" "ANK2(NM_001148.6):c.8976C>T (p.D2992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886102" "0" "50" "4" "114278997" "114278997" "subst" "0" "02325" "ANK2_000437" "g.114278997T>A" "" "" "" "ANK2(NM_001148.6):c.9223T>A (p.S3075T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886103" "0" "30" "4" "114279689" "114279689" "subst" "1.2255E-5" "02327" "ANK2_000438" "g.114279689T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886104" "0" "50" "4" "114288787" "114288787" "subst" "3.25423E-5" "02327" "ANK2_000337" "g.114288787T>G" "" "" "" "ANK2(NM_001148.4):c.11098T>G (p.(Ser3700Ala)), ANK2(NM_001148.6):c.11098T>G (p.S3700A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886105" "0" "30" "4" "114288808" "114288808" "subst" "0.000333488" "02325" "ANK2_000338" "g.114288808G>A" "" "" "" "ANK2(NM_001148.4):c.11119G>A (p.D3707N), ANK2(NM_001148.6):c.11119G>A (p.D3707N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886106" "0" "50" "4" "114288823" "114288823" "subst" "4.06623E-5" "02327" "ANK2_000439" "g.114288823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886107" "0" "30" "4" "114288914" "114288914" "subst" "2.84597E-5" "02327" "ANK2_000440" "g.114288914C>T" "" "" "" "ANK2(NM_001148.6):c.11225C>T (p.(Pro3742Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886108" "0" "50" "4" "114294571" "114294571" "subst" "4.47245E-5" "02326" "ANK2_000441" "g.114294571G>A" "" "" "" "ANK2(NM_001148.4):c.11825G>A (p.R3942H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912034" "0" "30" "4" "114153349" "114153349" "subst" "0" "02330" "ANK2_000266" "g.114153349A>G" "" "" "" "ANK2(NM_001148.4):c.417A>G (p.Q139=), ANK2(NM_001386174.1):c.468A>G (p.Q156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912035" "0" "10" "4" "114209691" "114209691" "subst" "0.108207" "02325" "ANK2_000442" "g.114209691C>T" "" "" "" "ANK2(NM_001148.6):c.2277+49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912036" "0" "10" "4" "114232454" "114232454" "subst" "0.000515728" "02330" "ANK2_000443" "g.114232454T>C" "" "" "" "ANK2(NM_001386174.1):c.2697T>C (p.P899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912037" "0" "30" "4" "114262877" "114262877" "subst" "0.000739549" "02326" "ANK2_000444" "g.114262877A>G" "" "" "" "ANK2(NM_001148.4):c.3927A>G (p.E1309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912038" "0" "10" "4" "114264154" "114264154" "subst" "0.000264359" "02330" "ANK2_000445" "g.114264154T>G" "" "" "" "ANK2(NM_001386174.1):c.4264-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912039" "0" "10" "4" "114267023" "114267023" "subst" "0.999772" "02325" "ANK2_000446" "g.114267023G>A" "" "" "" "ANK2(NM_001148.6):c.4249-33G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912040" "0" "30" "4" "114284618" "114284618" "subst" "0.000239859" "02326" "ANK2_000213" "g.114284618T>G" "" "" "" "ANK2(NM_001148.4):c.10881T>G (p.H3627Q), ANK2(NM_001148.6):c.10881T>G (p.H3627Q, p.(His3627Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912041" "0" "10" "4" "114286387" "114286388" "del" "0" "02325" "ANK2_000222" "g.114286387_114286388del" "" "" "" "ANK2(NM_001148.6):c.11032+49_11032+50delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912042" "0" "30" "4" "114302617" "114302617" "subst" "0.000809674" "02326" "ANK2_000245" "g.114302617A>G" "" "" "" "ANK2(NM_001148.4):c.11864A>G (p.(Asn3955Ser), p.N3955S), ANK2(NM_001148.6):c.11864A>G (p.N3955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924038" "0" "30" "4" "114177010" "114177010" "subst" "4.46897E-5" "02325" "ANK2_000122" "g.114177010C>T" "" "" "" "ANK2(NM_001148.6):c.1110C>T (p.H370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924039" "0" "50" "4" "114275581" "114275581" "subst" "8.13577E-6" "02330" "ANK2_000447" "g.114275581G>A" "" "" "" "ANK2(NM_001386174.1):c.5948G>A (p.R1983H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924040" "0" "50" "4" "114277041" "114277041" "subst" "4.07216E-6" "02325" "ANK2_000401" "g.114277041G>T" "" "" "" "ANK2(NM_001148.6):c.7267G>T (p.A2423S), ANK2(NM_001386174.1):c.7408G>T (p.A2470S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924041" "0" "30" "4" "114277503" "114277503" "subst" "3.25494E-5" "02325" "ANK2_000448" "g.114277503G>A" "" "" "" "ANK2(NM_001148.6):c.7729G>A (p.G2577R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924042" "0" "50" "4" "114277914" "114277914" "subst" "4.07365E-5" "02325" "ANK2_000449" "g.114277914G>A" "" "" "" "ANK2(NM_001148.6):c.8140G>A (p.V2714I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924043" "0" "50" "4" "114278930" "114278932" "del" "0" "02325" "ANK2_000450" "g.114278930_114278932del" "" "" "" "ANK2(NM_001148.6):c.9156_9158delTGA (p.D3052del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928856" "0" "10" "4" "114238923" "114238923" "subst" "4.06141E-6" "02330" "ANK2_000451" "g.114238923C>T" "" "" "" "ANK2(NM_001386174.1):c.2859C>T (p.D953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928857" "0" "50" "4" "114275005" "114275005" "subst" "6.53873E-5" "02330" "ANK2_000074" "g.114275005C>A" "" "" "" "ANK2(NM_001386174.1):c.5372C>A (p.A1791D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928858" "0" "50" "4" "114276085" "114276085" "subst" "1.22239E-5" "02330" "ANK2_000452" "g.114276085G>A" "" "" "" "ANK2(NM_001386174.1):c.6452G>A (p.S2151N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948245" "0" "50" "4" "114153398" "114153398" "subst" "0" "02325" "ANK2_000453" "g.114153398C>G" "" "" "" "ANK2(NM_001148.6):c.466C>G (p.Q156E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948246" "0" "30" "4" "114264302" "114264302" "subst" "4.07007E-6" "02330" "ANK2_000454" "g.114264302A>G" "" "" "" "ANK2(NM_001386174.1):c.4389+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948247" "0" "10" "4" "114267166" "114267166" "subst" "2.03313E-5" "02330" "ANK2_000455" "g.114267166G>A" "" "" "" "ANK2(NM_001386174.1):c.4500G>A (p.P1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948248" "0" "50" "4" "114275425" "114275425" "subst" "8.13756E-5" "02330" "ANK2_000456" "g.114275425C>T" "" "" "" "ANK2(NM_001386174.1):c.5792C>T (p.S1931L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948249" "0" "10" "4" "114286289" "114286289" "subst" "8.13167E-5" "02330" "ANK2_000330" "g.114286289T>C" "" "" "" "ANK2(NM_001386174.1):c.11124T>C (p.S3708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948250" "0" "30" "4" "114288920" "114288920" "subst" "0.00060987" "02325" "ANK2_000235" "g.114288920C>A" "" "" "" "ANK2(NM_001148.4):c.11231C>A (p.T3744N), ANK2(NM_001148.6):c.11231C>A (p.T3744N, p.(Thr3744Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000955005" "0" "30" "4" "114280277" "114280277" "subst" "5.29419E-5" "03779" "ANK2_000457" "g.114280277A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs370472530" "0" "" "" "" "" "likely benign" "" "0000962984" "0" "30" "4" "114179450" "114179450" "subst" "4.0626E-6" "02330" "ANK2_000458" "g.114179450C>T" "" "" "" "ANK2(NM_001386174.1):c.1339-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962986" "0" "50" "4" "114277940" "114277940" "subst" "4.07943E-5" "02326" "ANK2_000310" "g.114277940G>A" "" "" "" "ANK2(NM_001148.4):c.8166G>A (p.M2722I), ANK2(NM_001148.6):c.8166G>A (p.M2722I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976074" "0" "30" "4" "113825680" "113825680" "subst" "7.66518E-6" "01804" "ANK2_000459" "g.113825680G>A" "" "" "" "ANK2(NM_001127493.3):c.21+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976075" "0" "50" "4" "114232546" "114232546" "subst" "0" "01804" "ANK2_000460" "g.114232546G>T" "" "" "" "ANK2(NM_001148.6):c.2684G>T (p.(Arg895Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976076" "0" "50" "4" "114257118" "114257118" "subst" "0" "01804" "ANK2_000461" "g.114257118C>T" "" "" "" "ANK2(NM_001148.6):c.3496C>T (p.(Pro1166Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976077" "0" "50" "4" "114269433" "114269433" "subst" "0.000528804" "01804" "ANK2_000065" "g.114269433A>G" "" "" "" "ANK2(NM_001148.4):c.4373A>G (p.E1458G), ANK2(NM_001148.6):c.4373A>G (p.(Glu1458Gly)), ANK2(NM_001386174.1):c.4514A>G (p.E1505G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976078" "0" "50" "4" "114278937" "114278937" "subst" "0" "01804" "ANK2_000462" "g.114278937T>C" "" "" "" "ANK2(NM_001148.6):c.9163T>C (p.(Phe3055Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976079" "0" "50" "4" "114280347" "114280347" "subst" "5.29959E-5" "01804" "ANK2_000463" "g.114280347G>A" "" "" "" "ANK2(NM_001148.6):c.10573G>A (p.(Glu3525Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976080" "0" "30" "4" "114284618" "114284618" "subst" "0.000239859" "01804" "ANK2_000213" "g.114284618T>G" "" "" "" "ANK2(NM_001148.4):c.10881T>G (p.H3627Q), ANK2(NM_001148.6):c.10881T>G (p.H3627Q, p.(His3627Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976081" "0" "50" "4" "114288914" "114288914" "subst" "2.84597E-5" "01804" "ANK2_000440" "g.114288914C>T" "" "" "" "ANK2(NM_001148.6):c.11225C>T (p.(Pro3742Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976082" "0" "50" "4" "114294570" "114294570" "subst" "8.13246E-6" "01804" "ANK2_000464" "g.114294570C>T" "" "" "" "ANK2(NM_001148.6):c.11824C>T (p.(Arg3942Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994016" "0" "50" "4" "114158197" "114158197" "subst" "0" "01804" "ANK2_000465" "g.114158197G>T" "" "" "" "ANK2(NM_001148.4):c.538G>T (p.(Ala180Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994018" "0" "50" "4" "114186125" "114186125" "subst" "0" "01804" "ANK2_000467" "g.114186125G>A" "" "" "" "ANK2(NM_001148.4):c.1459G>A (p.(Gly487Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994019" "0" "30" "4" "114204016" "114204016" "subst" "1.62746E-5" "02330" "ANK2_000351" "g.114204016C>T" "" "" "" "ANK2(NM_001386174.1):c.2118C>T (p.H706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994020" "0" "50" "4" "114204023" "114204023" "subst" "1.22105E-5" "01804" "ANK2_000468" "g.114204023A>G" "" "" "" "ANK2(NM_001148.4):c.2074A>G (p.(Thr692Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994021" "0" "30" "4" "114209614" "114209614" "subst" "0.000276205" "01804" "ANK2_000130" "g.114209614A>G" "" "" "" "ANK2(NM_001148.4):c.2249A>G (p.Q750R, p.(Gln750Arg)), ANK2(NM_001148.6):c.2249A>G (p.Q750R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994022" "0" "50" "4" "114262995" "114262995" "subst" "8.13008E-6" "01804" "ANK2_000469" "g.114262995A>G" "" "" "" "ANK2(NM_001148.4):c.4045A>G (p.(Met1349Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994023" "0" "50" "4" "114267077" "114267077" "subst" "0" "01804" "ANK2_000470" "g.114267077C>G" "" "" "" "ANK2(NM_001148.4):c.4270C>G (p.(Pro1424Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994024" "0" "30" "4" "114274768" "114274768" "subst" "0" "01804" "ANK2_000471" "g.114274768A>T" "" "" "" "ANK2(NM_001148.4):c.4994A>T (p.(Lys1665Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994025" "0" "50" "4" "114275200" "114275200" "subst" "2.03727E-5" "01804" "ANK2_000400" "g.114275200C>T" "" "" "" "ANK2(NM_001148.4):c.5426C>T (p.A1809V, p.(Ala1809Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994026" "0" "30" "4" "114275608" "114275608" "subst" "4.06884E-6" "01804" "ANK2_000472" "g.114275608C>T" "" "" "" "ANK2(NM_001148.4):c.5834C>T (p.(Thr1945Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994027" "0" "50" "4" "114276358" "114276358" "subst" "8.14631E-6" "01804" "ANK2_000473" "g.114276358G>A" "" "" "" "ANK2(NM_001148.4):c.6584G>A (p.(Ser2195Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994028" "0" "30" "4" "114276628" "114276628" "subst" "0.000135608" "02330" "ANK2_000415" "g.114276628T>C" "" "" "" "ANK2(NM_001386174.1):c.6995T>C (p.I2332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994029" "0" "30" "4" "114276942" "114276942" "subst" "5.29842E-5" "01804" "ANK2_000301" "g.114276942A>C" "" "" "" "ANK2(NM_001148.4):c.7168A>C (p.(Lys2390Gln)), ANK2(NM_001148.6):c.7168A>C (p.K2390Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994030" "0" "30" "4" "114277290" "114277290" "subst" "2.44596E-5" "01804" "ANK2_000474" "g.114277290C>T" "" "" "" "ANK2(NM_001148.4):c.7516C>T (p.(Arg2506Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994031" "0" "30" "4" "114277663" "114277663" "subst" "0" "01804" "ANK2_000475" "g.114277663G>A" "" "" "" "ANK2(NM_001148.4):c.7889G>A (p.(Cys2630Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994032" "0" "30" "4" "114277807" "114277807" "subst" "0" "01804" "ANK2_000476" "g.114277807A>T" "" "" "" "ANK2(NM_001148.4):c.8033A>T (p.(Asp2678Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994033" "0" "10" "4" "114277907" "114277907" "subst" "4.07219E-6" "02330" "ANK2_000309" "g.114277907G>A" "" "" "" "ANK2(NM_001386174.1):c.8274G>A (p.Q2758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994034" "0" "30" "4" "114278104" "114278104" "subst" "2.86355E-5" "01804" "ANK2_000186" "g.114278104G>T" "" "" "" "ANK2(NM_001148.4):c.8330G>T (p.(Cys2777Phe)), ANK2(NM_001148.6):c.8330G>T (p.C2777F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994035" "0" "30" "4" "114278191" "114278191" "subst" "2.85363E-5" "01804" "ANK2_000477" "g.114278191T>C" "" "" "" "ANK2(NM_001148.4):c.8417T>C (p.(Val2806Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994036" "0" "30" "4" "114278258" "114278258" "subst" "0.000293119" "02330" "ANK2_000312" "g.114278258T>C" "" "" "" "ANK2(NM_001386174.1):c.8625T>C (p.D2875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994037" "0" "50" "4" "114278935" "114278935" "subst" "4.48573E-5" "01804" "ANK2_000478" "g.114278935C>G" "" "" "" "ANK2(NM_001148.4):c.9161C>G (p.(Ala3054Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994038" "0" "50" "4" "114279178" "114279178" "subst" "1.22341E-5" "01804" "ANK2_000479" "g.114279178G>T" "" "" "" "ANK2(NM_001148.4):c.9404G>T (p.(Gly3135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994039" "0" "30" "4" "114279628" "114279628" "subst" "0.00866802" "01804" "ANK2_000114" "g.114279628T>C" "" "" "" "ANK2(NM_001148.4):c.9854T>C (p.(Ile3285Thr), p.I3285T), ANK2(NM_001148.6):c.9854T>C (p.I3285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994040" "0" "30" "4" "114279690" "114279690" "subst" "1.63416E-5" "01804" "ANK2_000320" "g.114279690G>A" "" "" "" "ANK2(NM_001148.4):c.9916G>A (p.(Val3306Ile), p.V3306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994041" "0" "50" "4" "114279834" "114279834" "subst" "0" "01804" "ANK2_000480" "g.114279834C>G" "" "" "" "ANK2(NM_001148.4):c.10060C>G (p.(Leu3354Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994042" "0" "30" "4" "114280063" "114280063" "subst" "0.00011815" "02330" "ANK2_000481" "g.114280063A>C" "" "" "" "ANK2(NM_001386174.1):c.10430A>C (p.E3477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994043" "0" "30" "4" "114280101" "114280101" "subst" "0" "01804" "ANK2_000482" "g.114280101C>A" "" "" "" "ANK2(NM_001148.4):c.10327C>A (p.(Pro3443Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994044" "0" "30" "4" "114280138" "114280138" "subst" "4.07256E-6" "01804" "ANK2_000483" "g.114280138G>C" "" "" "" "ANK2(NM_001148.4):c.10364G>C (p.(Gly3455Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994045" "0" "30" "4" "114286254" "114286254" "subst" "2.84613E-5" "01804" "ANK2_000484" "g.114286254G>C" "" "" "" "ANK2(NM_001148.4):c.10948G>C (p.(Glu3650Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994046" "0" "50" "4" "114288728" "114288728" "subst" "2.4506E-5" "01804" "ANK2_000485" "g.114288728C>T" "" "" "" "ANK2(NM_001148.4):c.11039C>T (p.(Ser3680Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994047" "0" "50" "4" "114288787" "114288787" "subst" "3.25423E-5" "01804" "ANK2_000337" "g.114288787T>G" "" "" "" "ANK2(NM_001148.4):c.11098T>G (p.(Ser3700Ala)), ANK2(NM_001148.6):c.11098T>G (p.S3700A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994048" "0" "50" "4" "114290888" "114290888" "subst" "0" "01804" "ANK2_000486" "g.114290888T>C" "" "" "" "ANK2(NM_001148.4):c.11537T>C (p.(Leu3846Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994049" "0" "50" "4" "114294316" "114294316" "subst" "0" "02330" "ANK2_000487" "g.114294316C>A" "" "" "" "ANK2(NM_001386174.1):c.11915C>A (p.T3972N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994050" "0" "30" "4" "114294462" "114294462" "subst" "0.0010088" "01804" "ANK2_000078" "g.114294462C>T" "" "" "" "ANK2(NM_001148.4):c.11716C>T (p.R3906W, p.(Arg3906Trp)), ANK2(NM_001148.6):c.11716C>T (p.R3906W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994051" "0" "30" "4" "114294537" "114294537" "subst" "0.0028544" "01804" "ANK2_000079" "g.114294537G>A" "" "" "" "ANK2(NM_001148.4):c.11791G>A (p.E3931K, p.(Glu3931Lys)), ANK2(NM_001148.6):c.11791G>A (p.E3931K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994052" "0" "30" "4" "114302617" "114302617" "subst" "0.000809674" "01804" "ANK2_000245" "g.114302617A>G" "" "" "" "ANK2(NM_001148.4):c.11864A>G (p.(Asn3955Ser), p.N3955S), ANK2(NM_001148.6):c.11864A>G (p.N3955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013929" "0" "30" "4" "114177036" "114177036" "subst" "0.000101595" "02325" "ANK2_000080" "g.114177036G>T" "" "" "" "ANK2(NM_001148.6):c.1136G>T (p.R379L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013930" "0" "50" "4" "114278421" "114278421" "subst" "7.73628E-5" "02330" "ANK2_000488" "g.114278421T>G" "" "" "" "ANK2(NM_001386174.1):c.8788T>G (p.F2930V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013931" "0" "10" "4" "114280169" "114280169" "subst" "0.00212643" "02326" "ANK2_000208" "g.114280169G>A" "" "" "" "ANK2(NM_001148.4):c.10395G>A (p.E3465=), ANK2(NM_001148.6):c.10395G>A (p.E3465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024881" "0" "30" "4" "114195742" "114195742" "subst" "4.06798E-6" "02330" "ANK2_000490" "g.114195742G>A" "" "" "" "ANK2(NM_001386174.1):c.1671G>A (p.E557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024882" "0" "30" "4" "114195795" "114195795" "subst" "4.0709E-5" "02330" "ANK2_000491" "g.114195795T>C" "" "" "" "ANK2(NM_001386174.1):c.1724T>C (p.L575S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024883" "0" "50" "4" "114232495" "114232495" "subst" "0" "02330" "ANK2_000492" "g.114232495G>A" "" "" "" "ANK2(NM_001386174.1):c.2738G>A (p.S913N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024884" "0" "50" "4" "114267119" "114267119" "subst" "0" "02330" "ANK2_000493" "g.114267119A>G" "" "" "" "ANK2(NM_001386174.1):c.4453A>G (p.R1485G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034266" "0" "30" "4" "114203821" "114203821" "subst" "0" "01804" "ANK2_000494" "g.114203821T>C" "" "" "" "ANK2(NM_001148.6):c.1882-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034267" "0" "50" "4" "114203844" "114203844" "subst" "0" "01804" "ANK2_000495" "g.114203844C>T" "" "" "" "ANK2(NM_001148.6):c.1895C>T (p.(Pro632Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034268" "0" "50" "4" "114213584" "114213584" "subst" "0" "01804" "ANK2_000496" "g.114213584C>T" "" "" "" "ANK2(NM_001148.6):c.2290C>T (p.(Pro764Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034269" "0" "30" "4" "114213659" "114213659" "subst" "0" "01804" "ANK2_000497" "g.114213659G>A" "" "" "" "ANK2(NM_001148.6):c.2365G>A (p.(Ala789Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034270" "0" "30" "4" "114239745" "114239745" "subst" "4.48544E-5" "01804" "ANK2_000135" "g.114239745G>A" "" "" "" "ANK2(NM_001148.6):c.2869G>A (p.V957M, p.(Val957Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034271" "0" "10" "4" "114251471" "114251471" "subst" "0.000837051" "02330" "ANK2_000138" "g.114251471A>C" "" "" "" "ANK2(NM_001148.4):c.2970A>C (p.R990=), ANK2(NM_001386174.1):c.3111A>C (p.R1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034272" "0" "50" "4" "114275353" "114275353" "subst" "0" "01804" "ANK2_000498" "g.114275353C>T" "" "" "" "ANK2(NM_001148.6):c.5579C>T (p.(Ser1860Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034273" "0" "30" "4" "114276408" "114276408" "subst" "0.00372906" "01804" "ANK2_000168" "g.114276408G>A" "" "" "" "ANK2(NM_001148.6):c.6634G>A (p.G2212S, p.(Gly2212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034274" "0" "30" "4" "114276781" "114276781" "subst" "0.0038701" "01804" "ANK2_000173" "g.114276781C>T" "" "" "" "ANK2(NM_001148.6):c.7007C>T (p.A2336V, p.(Ala2336Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034275" "0" "30" "4" "114277605" "114277605" "subst" "0.0012724" "02330" "ANK2_000180" "g.114277605T>C" "" "" "" "ANK2(NM_001148.4):c.7831T>C (p.Y2611H), ANK2(NM_001386174.1):c.7972T>C (p.Y2658H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034276" "0" "10" "4" "114278835" "114278835" "subst" "0.0014382" "01804" "ANK2_000316" "g.114278835G>A" "" "" "" "ANK2(NM_001148.6):c.9061G>A (p.(Ala3021Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034277" "0" "30" "4" "114279599" "114279599" "subst" "0.000293456" "01804" "ANK2_000319" "g.114279599T>G" "" "" "" "ANK2(NM_001148.6):c.9825T>G (p.D3275E, p.(Asp3275Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034278" "0" "50" "4" "114280263" "114280271" "del" "0" "01804" "ANK2_000499" "g.114280263_114280271del" "" "" "" "ANK2(NM_001148.6):c.10489_10497del (p.(Arg3497_Gln3499del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034279" "0" "30" "4" "114281999" "114281999" "subst" "0.000155159" "01804" "ANK2_000210" "g.114281999C>T" "" "" "" "ANK2(NM_001148.6):c.10702C>T (p.(Arg3568Trp)), ANK2(NM_001386174.1):c.10843C>T (p.R3615W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034280" "0" "50" "4" "114284614" "114284614" "subst" "0" "01804" "ANK2_000500" "g.114284614A>C" "" "" "" "ANK2(NM_001148.6):c.10877A>C (p.(Lys3626Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034281" "0" "30" "4" "114288920" "114288920" "subst" "0.00060987" "01804" "ANK2_000235" "g.114288920C>A" "" "" "" "ANK2(NM_001148.4):c.11231C>A (p.T3744N), ANK2(NM_001148.6):c.11231C>A (p.T3744N, p.(Thr3744Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045944" "0" "30" "4" "114288907" "114288907" "subst" "0.00238235" "02325" "ANK2_000234" "g.114288907C>A" "" "" "" "ANK2(NM_001148.6):c.11218C>A (p.L3740I)" "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 ANK2 ## Count = 618 "{{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}}" "0000002354" "00001748" "30" "384" "14848" "384" "14849" "c.384+14848_384+14849insAT" "r.(=)" "p.(=)" "4i" "0000010394" "00001748" "30" "384" "14848" "384" "14849" "c.384+14848_384+14849insA" "r.(=)" "p.(=)" "4i" "0000052351" "00001748" "50" "8843" "0" "8843" "0" "c.8843C>G" "r.(?)" "p.(Ala2948Gly)" "38" "0000052353" "00001748" "10" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "38" "0000052354" "00001748" "50" "7334" "0" "7334" "0" "c.7334A>G" "r.(?)" "p.(Asp2445Gly)" "38" "0000052366" "00001748" "50" "3914" "0" "3914" "0" "c.3914G>A" "r.(?)" "p.(Arg1305Gln)" "33" "0000052371" "00001748" "50" "5758" "0" "5758" "0" "c.5758G>A" "r.(?)" "p.(Gly1920Arg)" "38" "0000052377" "00001748" "10" "2945" "0" "2945" "0" "c.2945G>A" "r.(?)" "p.(Arg982Gln)" "27" "0000071824" "00001748" "70" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "" "0000095187" "00001748" "50" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "38" "0000095196" "00001748" "50" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "36" "0000095199" "00001748" "50" "9872" "0" "9872" "0" "c.9872C>G" "r.(?)" "p.(Pro3291Arg)" "38" "0000095210" "00001748" "50" "6883" "0" "6883" "0" "c.6883A>G" "r.(?)" "p.(Thr2295Ala)" "38" "0000095333" "00001748" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Ala940Gly)" "26" "0000095403" "00001748" "50" "2900" "5135" "2900" "5135" "c.2900+5135G>A" "r.(?)" "p.(?)" "26i" "0000095419" "00001748" "50" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582Gln)" "38" "0000095452" "00001748" "50" "5231" "0" "5231" "0" "c.5231C>T" "r.(?)" "p.(Ala1744Val)" "38" "0000095461" "00001748" "50" "5914" "0" "5914" "0" "c.5914C>A" "r.(?)" "p.(Gln1972Lys)" "38" "0000095462" "00001748" "50" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "45" "0000095502" "00001748" "50" "5231" "0" "5231" "0" "c.5231C>A" "r.(?)" "p.(Ala1744Asp)" "38" "0000095507" "00001748" "50" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "45" "0000095570" "00001748" "50" "5231" "0" "5231" "0" "c.5231C>T" "r.(?)" "p.(Ala1744Val)" "38" "0000095576" "00001748" "50" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "45" "0000095588" "00001748" "50" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "38" "0000095601" "00001748" "50" "8240" "0" "8240" "0" "c.8240G>A" "r.(?)" "p.(Arg2747His)" "38" "0000095632" "00001748" "50" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "41" "0000095649" "00001748" "50" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "45" "0000095685" "00001748" "50" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "36" "0000095718" "00001748" "50" "5032" "0" "5032" "0" "c.5032G>A" "r.(?)" "p.(Glu1678Lys)" "38" "0000095721" "00001748" "50" "7183" "0" "7183" "0" "c.7183A>C" "r.(?)" "p.(Thr2395Pro)" "38" "0000095743" "00001748" "50" "7117" "0" "7117" "0" "c.7117A>G" "r.(?)" "p.(Thr2373Ala)" "38" "0000095789" "00001748" "50" "8354" "0" "8354" "0" "c.8354C>T" "r.(?)" "p.(Ser2785Leu)" "38" "0000096506" "00001748" "50" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "41" "0000096519" "00001748" "50" "8089" "0" "8089" "0" "c.8089T>C" "r.(?)" "p.(Ser2697Pro)" "38" "0000096528" "00001748" "50" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "21" "0000096980" "00001748" "50" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "36" "0000096981" "00001748" "50" "1136" "0" "1136" "0" "c.1136G>T" "r.(?)" "p.(Arg379Leu)" "11" "0000218380" "00001748" "50" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Pro1068Ser)" "" "0000218415" "00001748" "50" "1259" "0" "1259" "0" "c.1259A>T" "r.(?)" "p.(Tyr420Phe)" "" "0000218468" "00001748" "50" "1829" "0" "1829" "0" "c.1829A>T" "r.(?)" "p.(Lys610Met)" "" "0000218498" "00001748" "90" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000223727" "00001748" "30" "7951" "0" "7951" "0" "c.7951G>C" "r.(?)" "p.(Val2651Leu)" "38" "0000242416" "00001748" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Arg)" "14" "0000242417" "00001748" "50" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asn687Ser)" "18" "0000242418" "00001748" "50" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Val708Met)" "19" "0000242419" "00001748" "90" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "36" "0000242420" "00001748" "90" "4348" "0" "4348" "0" "c.4348C>T" "r.(?)" "p.(?)" "35" "0000242421" "00001748" "90" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(?)" "35" "0000242422" "00001748" "90" "4507" "0" "4507" "0" "c.4507C>G" "r.(?)" "p.(?)" "38" "0000242423" "00001748" "90" "4546" "0" "4546" "0" "c.4546G>A" "r.(?)" "p.(?)" "38" "0000242424" "00001748" "90" "4655" "0" "4655" "0" "c.4655C>A" "r.(?)" "p.(?)" "38" "0000242425" "00001748" "90" "4732" "0" "4732" "0" "c.4732G>A" "r.(?)" "p.(Val1578Met)" "38" "0000242426" "00001748" "90" "4864" "0" "4864" "0" "c.4864C>A" "r.(?)" "p.(?)" "38" "0000242427" "00001748" "90" "4864" "0" "4864" "0" "c.4864C>A" "r.(?)" "p.(?)" "38" "0000242428" "00001748" "90" "4877" "0" "4877" "0" "c.4877C>A" "r.(?)" "p.(?)" "38" "0000242429" "00001748" "90" "5162" "0" "5162" "0" "c.5162G>C" "r.(?)" "p.(?)" "38" "0000242430" "00001748" "90" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Ala1726Asp)" "38" "0000242431" "00001748" "90" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "38" "0000242432" "00001748" "90" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "38" "0000242433" "00001748" "90" "5371" "0" "5371" "0" "c.5371T>C" "r.(?)" "p.(?)" "38" "0000242434" "00001748" "90" "5437" "0" "5437" "0" "c.5437G>A" "r.(?)" "p.(?)" "38" "0000242435" "00001748" "90" "5437" "0" "5437" "0" "c.5437G>A" "r.(?)" "p.(?)" "38" "0000242436" "00001748" "50" "7106" "0" "7106" "0" "c.7106T>C" "r.(?)" "p.(Val2369Ala)" "38" "0000242437" "00001748" "50" "7267" "0" "7267" "0" "c.7267G>A" "r.(?)" "p.(Ala2423Thr)" "38" "0000242438" "00001748" "50" "8503" "0" "8503" "0" "c.8503C>T" "r.(?)" "p.(Pro2835Ser)" "38" "0000242439" "00001748" "50" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "38" "0000242440" "00001748" "50" "9900" "0" "9900" "0" "c.9900C>A" "r.(?)" "p.(Ser3300Arg)" "38" "0000246214" "00001748" "10" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Ala467=)" "" "0000246224" "00001748" "50" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "" "0000246226" "00001748" "10" "7110" "0" "7110" "0" "c.7110A>G" "r.(?)" "p.(Gln2370=)" "" "0000246227" "00001748" "10" "9648" "0" "9648" "0" "c.9648A>G" "r.(?)" "p.(Glu3216=)" "" "0000246235" "00001748" "10" "3510" "0" "3510" "0" "c.3510A>G" "r.(?)" "p.(Val1170=)" "" "0000246236" "00001748" "10" "4287" "0" "4287" "0" "c.4287A>G" "r.(?)" "p.(Ser1429=)" "" "0000246237" "00001748" "10" "7488" "0" "7488" "0" "c.7488A>G" "r.(?)" "p.(Thr2496=)" "" "0000246238" "00001748" "10" "8064" "0" "8064" "0" "c.8064A>T" "r.(?)" "p.(Arg2688=)" "" "0000246239" "00001748" "10" "11337" "0" "11337" "0" "c.11337A>G" "r.(?)" "p.(Thr3779=)" "" "0000246240" "00001748" "10" "11652" "0" "11652" "0" "c.11652A>G" "r.(?)" "p.(Glu3884=)" "" "0000246241" "00001748" "10" "11658" "0" "11658" "0" "c.11658A>G" "r.(?)" "p.(Glu3886=)" "" "0000246255" "00001748" "10" "9286" "0" "9286" "0" "c.9286A>G" "r.(?)" "p.(Ser3096Gly)" "" "0000246259" "00001748" "10" "2178" "19" "2178" "19" "c.2178+19A>G" "r.(=)" "p.(=)" "" "0000246260" "00001748" "10" "11695" "-20" "11695" "-20" "c.11695-20A>G" "r.(=)" "p.(=)" "" "0000246267" "00001748" "30" "7452" "0" "7452" "0" "c.7452A>G" "r.(?)" "p.(Pro2484=)" "" "0000246268" "00001748" "30" "9072" "0" "9072" "0" "c.9072A>C" "r.(?)" "p.(Thr3024=)" "" "0000246273" "00001748" "30" "8979" "0" "8979" "0" "c.8979A>G" "r.(?)" "p.(Ile2993Met)" "" "0000246276" "00001748" "30" "11864" "0" "11864" "0" "c.11864A>G" "r.(?)" "p.(Asn3955Ser)" "" "0000246283" "00001748" "50" "6836" "0" "6836" "0" "c.6836A>G" "r.(?)" "p.(His2279Arg)" "" "0000246284" "00001748" "50" "1279" "0" "1279" "0" "c.1279A>G" "r.(?)" "p.(Ile427Val)" "" "0000246290" "00001748" "30" "2249" "0" "2249" "0" "c.2249A>G" "r.(?)" "p.(Gln750Arg)" "" "0000246293" "00001748" "50" "9679" "0" "9679" "0" "c.9679A>C" "r.(?)" "p.(Thr3227Pro)" "" "0000246294" "00001748" "50" "11641" "0" "11641" "0" "c.11641A>G" "r.(?)" "p.(Thr3881Ala)" "" "0000248359" "00001748" "10" "7110" "0" "7110" "0" "c.7110A>G" "r.(?)" "p.(Gln2370=)" "" "0000248360" "00001748" "10" "9648" "0" "9648" "0" "c.9648A>G" "r.(?)" "p.(Glu3216=)" "" "0000249039" "00001748" "10" "85" "-14082" "85" "-14082" "c.85-14082A>G" "r.(=)" "p.(=)" "" "0000250743" "00001748" "10" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Ala467=)" "" "0000251984" "00001748" "30" "9688" "0" "9688" "0" "c.9688A>G" "r.(?)" "p.(Thr3230Ala)" "" "0000252641" "00001748" "30" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "" "0000252781" "00001748" "50" "1378" "0" "1378" "0" "c.1378A>G" "r.(?)" "p.(Thr460Ala)" "" "0000253962" "00001748" "30" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Ala467=)" "" "0000254437" "00001748" "30" "1722" "0" "1722" "0" "c.1722A>C" "r.(?)" "p.(Gly574=)" "" "0000254961" "00001748" "30" "2970" "0" "2970" "0" "c.2970A>C" "r.(?)" "p.(Arg990=)" "" "0000257722" "00001748" "10" "11881" "0" "11881" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000257723" "00001748" "50" "10150" "0" "10150" "0" "c.10150C>T" "r.(?)" "p.(Pro3384Ser)" "" "0000257724" "00001748" "10" "10371" "0" "10371" "0" "c.10371G>A" "r.(?)" "p.(Thr3457=)" "" "0000257725" "00001748" "10" "10395" "0" "10395" "0" "c.10395G>A" "r.(?)" "p.(Glu3465=)" "" "0000257726" "00001748" "10" "10531" "0" "10531" "0" "c.10531C>T" "r.(?)" "p.(Leu3511=)" "" "0000257727" "00001748" "50" "10702" "0" "10702" "0" "c.10702C>T" "r.(?)" "p.(Arg3568Trp)" "" "0000257728" "00001748" "50" "10808" "0" "10808" "0" "c.10808T>C" "r.(?)" "p.(Ile3603Thr)" "" "0000257729" "00001748" "50" "10881" "0" "10881" "0" "c.10881T>G" "r.(?)" "p.(His3627Gln)" "" "0000257730" "00001748" "10" "10888" "20" "10888" "20" "c.10888+20C>T" "r.(=)" "p.(=)" "" "0000257731" "00001748" "50" "1093" "0" "1093" "0" "c.1093T>C" "r.(?)" "p.(Tyr365His)" "" "0000257732" "00001748" "50" "11027" "0" "11027" "0" "c.11027G>C" "r.(?)" "p.(Ser3676Thr)" "" "0000257733" "00001748" "10" "11032" "19" "11032" "20" "c.11032+19_11032+20del" "r.(=)" "p.(=)" "" "0000257736" "00001748" "10" "11032" "19" "11032" "19" "c.11032+19A>G" "r.(=)" "p.(=)" "" "0000257737" "00001748" "10" "11032" "49" "11032" "50" "c.11032+49_11032+50del" "r.(=)" "p.(=)" "" "0000257739" "00001748" "10" "11032" "49" "11032" "50" "c.11032+49_11032+50dup" "r.(=)" "p.(=)" "" "0000257740" "00001748" "10" "11032" "47" "11032" "50" "c.11032+47_11032+50del" "r.(=)" "p.(=)" "" "0000257741" "00001748" "10" "11032" "45" "11032" "50" "c.11032+45_11032+50del" "r.(=)" "p.(=)" "" "0000257742" "00001748" "10" "11032" "20" "11032" "21" "c.11032+20_11032+21insTG" "r.(=)" "p.(=)" "" "0000257751" "00001748" "10" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(His370=)" "" "0000257752" "00001748" "10" "11181" "0" "11181" "0" "c.11181C>T" "r.(?)" "p.(Gly3727=)" "" "0000257753" "00001748" "30" "11218" "0" "11218" "0" "c.11218C>A" "r.(?)" "p.(Leu3740Ile)" "" "0000257754" "00001748" "30" "11231" "0" "11231" "0" "c.11231C>A" "r.(?)" "p.(Thr3744Asn)" "" "0000257755" "00001748" "30" "1136" "0" "1136" "0" "c.1136G>T" "r.(?)" "p.(Arg379Leu)" "" "0000257756" "00001748" "50" "11539" "0" "11539" "0" "c.11539G>A" "r.(?)" "p.(Val3847Ile)" "" "0000257757" "00001748" "10" "11673" "0" "11673" "0" "c.11673T>C" "r.(?)" "p.(His3891=)" "" "0000257758" "00001748" "30" "11725" "0" "11725" "0" "c.11725T>C" "r.(?)" "p.(Ser3909Pro)" "" "0000257759" "00001748" "10" "11790" "0" "11790" "0" "c.11790C>T" "r.(?)" "p.(Ile3930=)" "" "0000257760" "00001748" "10" "1189" "-5" "1189" "-5" "c.1189-5C>T" "r.spl?" "p.?" "" "0000257761" "00001748" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(?)" "p.(Arg463=)" "" "0000257762" "00001748" "50" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Thr466Met)" "" "0000257763" "00001748" "50" "2144" "0" "2144" "0" "c.2144C>T" "r.(?)" "p.(Thr715Ile)" "" "0000257764" "00001748" "10" "2178" "17" "2178" "17" "c.2178+17T>C" "r.(=)" "p.(=)" "" "0000257765" "00001748" "10" "2178" "18" "2178" "18" "c.2178+18C>T" "r.(=)" "p.(=)" "" "0000257766" "00001748" "10" "2277" "9" "2277" "9" "c.2277+9C>T" "r.(=)" "p.(=)" "" "0000257767" "00001748" "10" "2278" "-11" "2278" "-11" "c.2278-11G>A" "r.(=)" "p.(=)" "" "0000257768" "00001748" "10" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Val779=)" "" "0000257769" "00001748" "10" "2377" "-8" "2377" "-8" "c.2377-8C>T" "r.(=)" "p.(=)" "" "0000257770" "00001748" "50" "2443" "0" "2443" "0" "c.2443G>A" "r.(?)" "p.(Val815Ile)" "" "0000257771" "00001748" "10" "2472" "0" "2474" "0" "c.2472_2474del" "r.(?)" "p.(Thr826del)" "" "0000257772" "00001748" "10" "2548" "20" "2548" "20" "c.2548+20T>A" "r.(=)" "p.(=)" "" "0000257773" "00001748" "10" "2727" "0" "2727" "0" "c.2727T>A" "r.(?)" "p.(Thr909=)" "" "0000257774" "00001748" "30" "2900" "5150" "2900" "5150" "c.2900+5150C>A" "r.(=)" "p.(=)" "" "0000257775" "00001748" "50" "2869" "0" "2869" "0" "c.2869G>A" "r.(?)" "p.(Val957Met)" "" "0000257776" "00001748" "10" "2900" "5124" "2900" "5124" "c.2900+5124T>C" "r.(=)" "p.(=)" "" "0000257777" "00001748" "10" "2901" "-13" "2901" "-13" "c.2901-13T>C" "r.(=)" "p.(=)" "" "0000257778" "00001748" "10" "3285" "0" "3285" "0" "c.3285G>A" "r.(?)" "p.(Val1095=)" "" "0000257779" "00001748" "10" "3366" "0" "3366" "0" "c.3366C>T" "r.(?)" "p.(Asn1122=)" "" "0000257780" "00001748" "50" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Val1154Met)" "" "0000257781" "00001748" "10" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Ala1181=)" "" "0000257782" "00001748" "10" "3579" "0" "3579" "0" "c.3579C>T" "r.(?)" "p.(Arg1193=)" "" "0000257783" "00001748" "10" "3796" "18" "3796" "18" "c.3796+18G>A" "r.(=)" "p.(=)" "" "0000257784" "00001748" "10" "384" "19" "384" "19" "c.384+19C>T" "r.(=)" "p.(=)" "" "0000257785" "00001748" "10" "3893" "10" "3893" "10" "c.3893+10T>C" "r.(=)" "p.(=)" "" "0000257786" "00001748" "10" "3893" "14" "3893" "14" "c.3893+14G>T" "r.(=)" "p.(=)" "" "0000257787" "00001748" "10" "4152" "0" "4152" "0" "c.4152T>C" "r.(?)" "p.(Asp1384=)" "" "0000257788" "00001748" "10" "4263" "0" "4263" "0" "c.4263T>C" "r.(?)" "p.(Thr1421=)" "" "0000257789" "00001748" "10" "4404" "16" "4404" "16" "c.4404+16T>C" "r.(=)" "p.(=)" "" "0000257790" "00001748" "10" "4744" "0" "4744" "0" "c.4744C>T" "r.(?)" "p.(Arg1582Trp)" "" "0000257791" "00001748" "10" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582Gln)" "" "0000257792" "00001748" "10" "5148" "0" "5148" "0" "c.5148G>A" "r.(?)" "p.(Glu1716=)" "" "0000257793" "00001748" "30" "5220" "0" "5220" "0" "c.5220C>A" "r.(?)" "p.(Asp1740Glu)" "" "0000257794" "00001748" "10" "5313" "0" "5313" "0" "c.5313G>A" "r.(?)" "p.(Lys1771=)" "" "0000257795" "00001748" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(Pro1823=)" "" "0000257796" "00001748" "10" "5715" "0" "5715" "0" "c.5715G>A" "r.(?)" "p.(Ser1905=)" "" "0000257797" "00001748" "50" "5749" "0" "5749" "0" "c.5749T>G" "r.(?)" "p.(Ser1917Ala)" "" "0000257798" "00001748" "10" "5778" "0" "5778" "0" "c.5778G>A" "r.(?)" "p.(Pro1926=)" "" "0000257799" "00001748" "10" "6168" "0" "6168" "0" "c.6168C>G" "r.(?)" "p.(Leu2056=)" "" "0000257800" "00001748" "30" "6176" "0" "6176" "0" "c.6176C>T" "r.(?)" "p.(Thr2059Met)" "" "0000257801" "00001748" "30" "6206" "0" "6206" "0" "c.6206G>A" "r.(?)" "p.(Arg2069His)" "" "0000257802" "00001748" "50" "6628" "0" "6628" "0" "c.6628G>A" "r.(?)" "p.(Val2210Ile)" "" "0000257803" "00001748" "10" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Gly2212Ser)" "" "0000257804" "00001748" "10" "6648" "0" "6648" "0" "c.6648C>G" "r.(?)" "p.(Gly2216=)" "" "0000257805" "00001748" "50" "6878" "0" "6878" "0" "c.6878G>A" "r.(?)" "p.(Gly2293Asp)" "" "0000257806" "00001748" "10" "6906" "0" "6906" "0" "c.6906C>T" "r.(?)" "p.(Thr2302=)" "" "0000257807" "00001748" "10" "7007" "0" "7007" "0" "c.7007C>T" "r.(?)" "p.(Ala2336Val)" "" "0000257808" "00001748" "10" "7106" "0" "7106" "0" "c.7106T>C" "r.(?)" "p.(Val2369Ala)" "" "0000257809" "00001748" "10" "7131" "0" "7131" "0" "c.7131C>T" "r.(?)" "p.(Asp2377=)" "" "0000257810" "00001748" "10" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "" "0000257811" "00001748" "50" "7136" "0" "7136" "0" "c.7136C>A" "r.(?)" "p.(Thr2379Lys)" "" "0000257812" "00001748" "10" "7320" "0" "7320" "0" "c.7320C>T" "r.(?)" "p.(Ser2440=)" "" "0000257813" "00001748" "10" "7902" "0" "7902" "0" "c.7902G>A" "r.(?)" "p.(Val2634=)" "" "0000257814" "00001748" "50" "7951" "0" "7951" "0" "c.7951G>C" "r.(?)" "p.(Val2651Leu)" "" "0000257815" "00001748" "50" "7979" "0" "7979" "0" "c.7979T>A" "r.(?)" "p.(Val2660Glu)" "" "0000257816" "00001748" "50" "8002" "0" "8002" "0" "c.8002C>A" "r.(?)" "p.(Pro2668Thr)" "" "0000257817" "00001748" "10" "813" "0" "813" "0" "c.813T>C" "r.(?)" "p.(His271=)" "" "0000257818" "00001748" "50" "8330" "0" "8330" "0" "c.8330G>T" "r.(?)" "p.(Cys2777Phe)" "" "0000257819" "00001748" "50" "8372" "0" "8372" "0" "c.8372C>T" "r.(?)" "p.(Ser2791Leu)" "" "0000257820" "00001748" "10" "8991" "0" "8991" "0" "c.8991C>T" "r.(?)" "p.(Ser2997=)" "" "0000257821" "00001748" "10" "9153" "0" "9153" "0" "c.9153C>T" "r.(?)" "p.(Asp3051=)" "" "0000257822" "00001748" "50" "949" "0" "949" "0" "c.949C>A" "r.(?)" "p.(Leu317Ile)" "" "0000257823" "00001748" "30" "9526" "0" "9526" "0" "c.9526G>T" "r.(?)" "p.(Asp3176Tyr)" "" "0000257824" "00001748" "10" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "" "0000257825" "00001748" "10" "9900" "0" "9900" "0" "c.9900C>A" "r.(?)" "p.(Ser3300Arg)" "" "0000257826" "00001748" "10" "9996" "0" "9996" "0" "c.9996T>C" "r.(?)" "p.(Ser3332=)" "" "0000258747" "00001748" "10" "10888" "20" "10888" "20" "c.10888+20C>T" "r.(=)" "p.(=)" "" "0000258748" "00001748" "10" "11673" "0" "11673" "0" "c.11673T>C" "r.(?)" "p.(His3891=)" "" "0000258749" "00001748" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(Pro1823=)" "" "0000258750" "00001748" "10" "7106" "0" "7106" "0" "c.7106T>C" "r.(?)" "p.(Val2369Ala)" "" "0000259317" "00001748" "30" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582Gln)" "" "0000260942" "00001748" "10" "11881" "0" "11881" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000260943" "00001748" "10" "10371" "0" "10371" "0" "c.10371G>A" "r.(?)" "p.(Thr3457=)" "" "0000260944" "00001748" "30" "10861" "0" "10861" "0" "c.10861C>G" "r.(?)" "p.(Leu3621Val)" "" "0000260945" "00001748" "50" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Thr466Met)" "" "0000260946" "00001748" "10" "2178" "18" "2178" "18" "c.2178+18C>T" "r.(=)" "p.(=)" "" "0000260947" "00001748" "30" "2277" "9" "2277" "9" "c.2277+9C>T" "r.(=)" "p.(=)" "" "0000260948" "00001748" "10" "2278" "-11" "2278" "-11" "c.2278-11G>A" "r.(=)" "p.(=)" "" "0000260949" "00001748" "10" "2278" "-21" "2278" "-21" "c.2278-21C>T" "r.(=)" "p.(=)" "" "0000260950" "00001748" "30" "2377" "-8" "2377" "-8" "c.2377-8C>T" "r.(=)" "p.(=)" "" "0000260951" "00001748" "30" "2476" "-10" "2476" "-10" "c.2476-10G>T" "r.(=)" "p.(=)" "" "0000260952" "00001748" "30" "2900" "5141" "2900" "5141" "c.2900+5141G>A" "r.(=)" "p.(=)" "" "0000260953" "00001748" "50" "4252" "0" "4252" "0" "c.4252C>T" "r.(?)" "p.(Arg1418Cys)" "" "0000260954" "00001748" "30" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582Gln)" "" "0000260955" "00001748" "70" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Glu1876Lys)" "" "0000260956" "00001748" "30" "6170" "0" "6170" "0" "c.6170C>T" "r.(?)" "p.(Pro2057Leu)" "" "0000260957" "00001748" "30" "6176" "0" "6176" "0" "c.6176C>T" "r.(?)" "p.(Thr2059Met)" "" "0000260958" "00001748" "30" "6197" "0" "6197" "0" "c.6197G>A" "r.(?)" "p.(Arg2066Lys)" "" "0000260959" "00001748" "30" "6206" "0" "6206" "0" "c.6206G>A" "r.(?)" "p.(Arg2069His)" "" "0000260960" "00001748" "30" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "" "0000260961" "00001748" "30" "8177" "0" "8177" "0" "c.8177C>T" "r.(?)" "p.(Thr2726Ile)" "" "0000260962" "00001748" "30" "8455" "0" "8455" "0" "c.8455G>A" "r.(?)" "p.(Glu2819Lys)" "" "0000260963" "00001748" "30" "8843" "0" "8843" "0" "c.8843C>G" "r.(?)" "p.(Ala2948Gly)" "" "0000260964" "00001748" "30" "8903" "0" "8903" "0" "c.8903T>C" "r.(?)" "p.(Val2968Ala)" "" "0000260965" "00001748" "30" "9046" "0" "9046" "0" "c.9046G>A" "r.(?)" "p.(Glu3016Lys)" "" "0000260966" "00001748" "50" "9173" "0" "9173" "0" "c.9173G>A" "r.(?)" "p.(Arg3058His)" "" "0000260967" "00001748" "30" "9526" "0" "9526" "0" "c.9526G>T" "r.(?)" "p.(Asp3176Tyr)" "" "0000260968" "00001748" "30" "9735" "0" "9735" "0" "c.9735C>T" "r.(?)" "p.(Pro3245=)" "" "0000260969" "00001748" "30" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "" "0000260970" "00001748" "30" "9900" "0" "9900" "0" "c.9900C>A" "r.(?)" "p.(Ser3300Arg)" "" "0000262452" "00001748" "30" "10371" "0" "10371" "0" "c.10371G>A" "r.(?)" "p.(Thr3457=)" "" "0000262453" "00001748" "50" "3914" "0" "3914" "0" "c.3914G>A" "r.(?)" "p.(Arg1305Gln)" "" "0000262454" "00001748" "10" "7831" "0" "7831" "0" "c.7831T>C" "r.(?)" "p.(Tyr2611His)" "" "0000262455" "00001748" "30" "8414" "0" "8414" "0" "c.8414C>T" "r.(?)" "p.(Pro2805Leu)" "" "0000262456" "00001748" "50" "8552" "0" "8552" "0" "c.8552C>T" "r.(?)" "p.(Pro2851Leu)" "" "0000262457" "00001748" "30" "8727" "0" "8727" "0" "c.8727C>T" "r.(?)" "p.(Pro2909=)" "" "0000262458" "00001748" "30" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Leu333=)" "" "0000337024" "00001748" "70" "2797" "-1" "2797" "-1" "c.2797-1G>A" "r.spl?" "p.?" "" "0000342598" "00001748" "70" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Ter)" "" "0000345140" "00001748" "30" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "" "0000348685" "00001748" "70" "3731" "0" "3731" "0" "c.3731del" "r.(?)" "p.(Ser1244MetfsTer5)" "" "0000521219" "00001748" "30" "-18" "0" "-18" "0" "c.-18C>G" "r.(?)" "p.(=)" "" "0000521220" "00001748" "10" "85" "-23273" "85" "-23273" "c.85-23273C>T" "r.(=)" "p.(=)" "" "0000521221" "00001748" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Val77=)" "" "0000521222" "00001748" "10" "366" "0" "366" "0" "c.366T>C" "r.(?)" "p.(Asn122=)" "" "0000521223" "00001748" "10" "384" "19" "384" "19" "c.384+19C>T" "r.(=)" "p.(=)" "" "0000521224" "00001748" "30" "417" "0" "417" "0" "c.417A>G" "r.(?)" "p.(Gln139=)" "" "0000521225" "00001748" "30" "484" "-10" "484" "-10" "c.484-10A>G" "r.(=)" "p.(=)" "" "0000521226" "00001748" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Ile)" "" "0000521227" "00001748" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" "0000521228" "00001748" "50" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Asp293Asn)" "" "0000521229" "00001748" "30" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Arg379Cys)" "" "0000521230" "00001748" "10" "1245" "0" "1245" "0" "c.1245A>G" "r.(?)" "p.(Glu415=)" "" "0000521231" "00001748" "10" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Ala467=)" "" "0000521232" "00001748" "10" "1995" "0" "1995" "0" "c.1995A>G" "r.(?)" "p.(Pro665=)" "" "0000521233" "00001748" "50" "2060" "0" "2060" "0" "c.2060A>G" "r.(?)" "p.(Asn687Ser)" "" "0000521234" "00001748" "70" "2213" "0" "2213" "0" "c.2213A>G" "r.(?)" "p.(Tyr738Cys)" "" "0000521235" "00001748" "10" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Asn755=)" "" "0000521236" "00001748" "10" "2277" "9" "2277" "9" "c.2277+9C>T" "r.(=)" "p.(=)" "" "0000521237" "00001748" "10" "2277" "16" "2277" "16" "c.2277+16T>A" "r.(=)" "p.(=)" "" "0000521238" "00001748" "10" "2278" "-11" "2278" "-11" "c.2278-11G>A" "r.(=)" "p.(=)" "" "0000521239" "00001748" "10" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Val779=)" "" "0000521240" "00001748" "10" "2376" "12" "2376" "12" "c.2376+12G>C" "r.(=)" "p.(=)" "" "0000521241" "00001748" "50" "2472" "0" "2474" "0" "c.2472_2474del" "r.(?)" "p.(Thr826del)" "" "0000521242" "00001748" "30" "2727" "0" "2727" "0" "c.2727T>A" "r.(?)" "p.(Thr909=)" "" "0000521244" "00001748" "10" "2901" "-16" "2901" "-16" "c.2901-16C>G" "r.(=)" "p.(=)" "" "0000521245" "00001748" "50" "3074" "0" "3074" "0" "c.3074G>C" "r.(?)" "p.(Gly1025Ala)" "" "0000521246" "00001748" "10" "3234" "0" "3234" "0" "c.3234C>A" "r.(?)" "p.(Ile1078=)" "" "0000521247" "00001748" "10" "3255" "0" "3255" "0" "c.3255G>T" "r.(?)" "p.(Ala1085=)" "" "0000521248" "00001748" "10" "3366" "0" "3366" "0" "c.3366C>T" "r.(?)" "p.(Asn1122=)" "" "0000521249" "00001748" "10" "3379" "12" "3379" "12" "c.3379+12T>G" "r.(=)" "p.(=)" "" "0000521250" "00001748" "10" "3379" "12" "3379" "12" "c.3379+12T>G" "r.(=)" "p.(=)" "" "0000521251" "00001748" "10" "3510" "0" "3510" "0" "c.3510A>G" "r.(?)" "p.(Val1170=)" "" "0000521252" "00001748" "10" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Ala1181=)" "" "0000521253" "00001748" "10" "4123" "-13" "4123" "-13" "c.4123-13del" "r.(=)" "p.(=)" "" "0000521254" "00001748" "10" "4152" "0" "4152" "0" "c.4152T>C" "r.(?)" "p.(Asp1384=)" "" "0000521255" "00001748" "30" "4230" "0" "4230" "0" "c.4230A>G" "r.(?)" "p.(Arg1410=)" "" "0000521256" "00001748" "30" "4315" "0" "4315" "0" "c.4315G>T" "r.(?)" "p.(Gly1439Cys)" "" "0000521257" "00001748" "30" "4371" "5" "4371" "5" "c.4371+5C>T" "r.spl?" "p.?" "" "0000521258" "00001748" "30" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Arg1582Gln)" "" "0000521259" "00001748" "30" "4969" "0" "4969" "0" "c.4969A>T" "r.(?)" "p.(Thr1657Ser)" "" "0000521260" "00001748" "30" "5240" "0" "5240" "0" "c.5240C>G" "r.(?)" "p.(Pro1747Arg)" "" "0000521261" "00001748" "30" "5607" "0" "5607" "0" "c.5607G>T" "r.(?)" "p.(Ala1869=)" "" "0000521262" "00001748" "10" "5774" "0" "5774" "0" "c.5774A>C" "r.(?)" "p.(His1925Pro)" "" "0000521263" "00001748" "30" "6078" "0" "6078" "0" "c.6078A>T" "r.(?)" "p.(Lys2026Asn)" "" "0000521264" "00001748" "30" "6143" "0" "6143" "0" "c.6143A>G" "r.(?)" "p.(Gln2048Arg)" "" "0000521265" "00001748" "50" "6170" "0" "6170" "0" "c.6170C>T" "r.(?)" "p.(Pro2057Leu)" "" "0000521267" "00001748" "30" "6505" "0" "6505" "0" "c.6505G>A" "r.(?)" "p.(Val2169Ile)" "" "0000521268" "00001748" "10" "6633" "0" "6633" "0" "c.6633C>T" "r.(?)" "p.(Ala2211=)" "" "0000521269" "00001748" "30" "6633" "0" "6633" "0" "c.6633C>T" "r.(?)" "p.(Ala2211=)" "" "0000521270" "00001748" "30" "6648" "0" "6648" "0" "c.6648C>G" "r.(?)" "p.(Gly2216=)" "" "0000521271" "00001748" "50" "6725" "0" "6725" "0" "c.6725C>T" "r.(?)" "p.(Thr2242Met)" "" "0000521272" "00001748" "10" "6783" "0" "6783" "0" "c.6783A>G" "r.(?)" "p.(Thr2261=)" "" "0000521273" "00001748" "10" "7007" "0" "7007" "0" "c.7007C>T" "r.(?)" "p.(Ala2336Val)" "" "0000521274" "00001748" "30" "7059" "0" "7059" "0" "c.7059A>G" "r.(?)" "p.(Gln2353=)" "" "0000521275" "00001748" "30" "7132" "0" "7132" "0" "c.7132G>A" "r.(?)" "p.(Glu2378Lys)" "" "0000521276" "00001748" "50" "7136" "0" "7136" "0" "c.7136C>T" "r.(?)" "p.(Thr2379Ile)" "" "0000521277" "00001748" "50" "7168" "0" "7168" "0" "c.7168A>C" "r.(?)" "p.(Lys2390Gln)" "" "0000521278" "00001748" "30" "7397" "0" "7397" "0" "c.7397G>A" "r.(?)" "p.(Arg2466His)" "" "0000521279" "00001748" "30" "7488" "0" "7488" "0" "c.7488A>G" "r.(?)" "p.(Thr2496=)" "" "0000521280" "00001748" "10" "7525" "0" "7525" "0" "c.7525C>T" "r.(?)" "p.(Leu2509=)" "" "0000521281" "00001748" "30" "7747" "0" "7747" "0" "c.7747A>G" "r.(?)" "p.(Thr2583Ala)" "" "0000521282" "00001748" "30" "7897" "0" "7897" "0" "c.7897G>T" "r.(?)" "p.(Asp2633Tyr)" "" "0000521283" "00001748" "10" "7932" "0" "7932" "0" "c.7932G>A" "r.(?)" "p.(Glu2644=)" "" "0000521284" "00001748" "30" "8065" "0" "8065" "0" "c.8065G>A" "r.(?)" "p.(Val2689Ile)" "" "0000521285" "00001748" "30" "8089" "0" "8089" "0" "c.8089T>A" "r.(?)" "p.(Ser2697Thr)" "" "0000521286" "00001748" "30" "8133" "0" "8133" "0" "c.8133G>A" "r.(?)" "p.(Gln2711=)" "" "0000521287" "00001748" "50" "8166" "0" "8166" "0" "c.8166G>A" "r.(?)" "p.(Met2722Ile)" "" "0000521288" "00001748" "10" "8354" "0" "8354" "0" "c.8354C>T" "r.(?)" "p.(Ser2785Leu)" "" "0000521289" "00001748" "10" "8354" "0" "8354" "0" "c.8354C>T" "r.(?)" "p.(Ser2785Leu)" "" "0000521290" "00001748" "30" "8354" "0" "8354" "0" "c.8354C>T" "r.(?)" "p.(Ser2785Leu)" "" "0000521291" "00001748" "30" "8463" "0" "8463" "0" "c.8463C>A" "r.(?)" "p.(Asp2821Glu)" "" "0000521292" "00001748" "30" "8484" "0" "8484" "0" "c.8484T>C" "r.(?)" "p.(Asp2828=)" "" "0000521293" "00001748" "10" "8503" "0" "8503" "0" "c.8503C>T" "r.(?)" "p.(Pro2835Ser)" "" "0000521295" "00001748" "10" "8658" "0" "8658" "0" "c.8658A>G" "r.(?)" "p.(Leu2886=)" "" "0000521296" "00001748" "50" "8728" "0" "8728" "0" "c.8728G>A" "r.(?)" "p.(Val2910Met)" "" "0000521297" "00001748" "30" "9046" "0" "9046" "0" "c.9046G>A" "r.(?)" "p.(Glu3016Lys)" "" "0000521298" "00001748" "30" "9046" "0" "9046" "0" "c.9046G>A" "r.(?)" "p.(Glu3016Lys)" "" "0000521299" "00001748" "10" "9061" "0" "9061" "0" "c.9061G>A" "r.(?)" "p.(Ala3021Thr)" "" "0000521300" "00001748" "30" "9439" "0" "9439" "0" "c.9439G>A" "r.(?)" "p.(Val3147Met)" "" "0000521301" "00001748" "50" "9823" "0" "9823" "0" "c.9823G>A" "r.(?)" "p.(Asp3275Asn)" "" "0000521302" "00001748" "50" "9823" "0" "9823" "0" "c.9823G>A" "r.(?)" "p.(Asp3275Asn)" "" "0000521303" "00001748" "30" "9825" "0" "9825" "0" "c.9825T>G" "r.(?)" "p.(Asp3275Glu)" "" "0000521304" "00001748" "10" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "" "0000521305" "00001748" "30" "9916" "0" "9916" "0" "c.9916G>A" "r.(?)" "p.(Val3306Ile)" "" "0000521307" "00001748" "10" "9996" "0" "9996" "0" "c.9996T>C" "r.(?)" "p.(Ser3332=)" "" "0000521308" "00001748" "30" "10017" "0" "10017" "0" "c.10017G>A" "r.(?)" "p.(Ala3339=)" "" "0000521309" "00001748" "10" "10032" "0" "10032" "0" "c.10032A>G" "r.(?)" "p.(Pro3344=)" "" "0000521310" "00001748" "30" "10084" "0" "10084" "0" "c.10084T>A" "r.(?)" "p.(Ser3362Thr)" "" "0000521311" "00001748" "30" "10395" "0" "10395" "0" "c.10395G>A" "r.(?)" "p.(Glu3465=)" "" "0000521312" "00001748" "30" "10562" "0" "10562" "0" "c.10562C>T" "r.(?)" "p.(Pro3521Leu)" "" "0000521313" "00001748" "50" "10667" "0" "10667" "0" "c.10667A>G" "r.(?)" "p.(His3556Arg)" "" "0000521314" "00001748" "30" "10737" "0" "10737" "0" "c.10737C>T" "r.(?)" "p.(His3579=)" "" "0000521315" "00001748" "30" "10861" "0" "10861" "0" "c.10861C>G" "r.(?)" "p.(Leu3621Val)" "" "0000521316" "00001748" "10" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "" "0000521317" "00001748" "50" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "" "0000521318" "00001748" "30" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "" "0000521319" "00001748" "50" "10901" "0" "10901" "0" "c.10901T>C" "r.(?)" "p.(Val3634Ala)" "" "0000521320" "00001748" "50" "10976" "0" "10976" "0" "c.10976G>T" "r.(?)" "p.(Arg3659Leu)" "" "0000521321" "00001748" "50" "10976" "0" "10976" "0" "c.10976G>T" "r.(?)" "p.(Arg3659Leu)" "" "0000521322" "00001748" "30" "10983" "0" "10983" "0" "c.10983T>C" "r.(?)" "p.(Ser3661=)" "" "0000521323" "00001748" "10" "11032" "17" "11032" "18" "c.11032+17_11032+18dup" "r.(=)" "p.(=)" "" "0000521324" "00001748" "10" "11032" "19" "11032" "21" "c.11032+19_11032+21del" "r.(=)" "p.(=)" "" "0000521325" "00001748" "10" "11032" "41" "11032" "50" "c.11032+41_11032+50dup" "r.(=)" "p.(=)" "" "0000521326" "00001748" "10" "11032" "43" "11032" "50" "c.11032+43_11032+50dup" "r.(=)" "p.(=)" "" "0000521327" "00001748" "10" "11032" "45" "11032" "50" "c.11032+45_11032+50dup" "r.(=)" "p.(=)" "" "0000521328" "00001748" "10" "11032" "47" "11032" "50" "c.11032+47_11032+50dup" "r.(=)" "p.(=)" "" "0000521329" "00001748" "10" "11032" "49" "11032" "50" "c.11032+49_11032+50del" "r.(=)" "p.(=)" "" "0000521330" "00001748" "50" "11098" "0" "11098" "0" "c.11098T>G" "r.(?)" "p.(Ser3700Ala)" "" "0000521331" "00001748" "50" "11119" "0" "11119" "0" "c.11119G>A" "r.(?)" "p.(Asp3707Asn)" "" "0000521332" "00001748" "30" "11119" "0" "11119" "0" "c.11119G>A" "r.(?)" "p.(Asp3707Asn)" "" "0000521333" "00001748" "30" "11182" "0" "11182" "0" "c.11182G>A" "r.(?)" "p.(Val3728Ile)" "" "0000521334" "00001748" "30" "11293" "0" "11293" "0" "c.11293T>G" "r.(?)" "p.(Ser3765Ala)" "" "0000521335" "00001748" "30" "11523" "0" "11523" "0" "c.11523G>A" "r.(?)" "p.(Pro3841=)" "" "0000521336" "00001748" "30" "11594" "0" "11594" "0" "c.11594A>G" "r.(?)" "p.(Asp3865Gly)" "" "0000521337" "00001748" "30" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000521338" "00001748" "50" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000521339" "00001748" "10" "11790" "0" "11790" "0" "c.11790C>T" "r.(?)" "p.(Ile3930=)" "" "0000521340" "00001748" "30" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000521341" "00001748" "50" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000521342" "00001748" "10" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000521343" "00001748" "10" "11859" "1321" "11859" "1321" "c.11859+1321T>C" "r.(=)" "p.(=)" "" "0000521344" "00001748" "30" "11859" "1471" "11859" "1471" "c.11859+1471C>T" "r.(=)" "p.(=)" "" "0000608982" "00001748" "30" "85" "-28535" "85" "-28535" "c.85-28535G>A" "r.(=)" "p.(=)" "" "0000608983" "00001748" "50" "354" "0" "354" "0" "c.354G>C" "r.(?)" "p.(Lys118Asn)" "" "0000608984" "00001748" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Tyr243=)" "" "0000608985" "00001748" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(His370=)" "" "0000608986" "00001748" "30" "1387" "-6" "1387" "-6" "c.1387-6T>C" "r.(=)" "p.(=)" "" "0000608987" "00001748" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Gly475Arg)" "" "0000608988" "00001748" "50" "1717" "0" "1717" "0" "c.1717T>C" "r.(?)" "p.(Tyr573His)" "" "0000608989" "00001748" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(His689=)" "" "0000608990" "00001748" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Asn755=)" "" "0000608991" "00001748" "50" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Ser)" "" "0000608992" "00001748" "50" "2513" "0" "2513" "0" "c.2513C>T" "r.(?)" "p.(Thr838Met)" "" "0000608993" "00001748" "50" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Arg946Cys)" "" "0000608994" "00001748" "50" "4020" "0" "4020" "0" "c.4020T>C" "r.(?)" "p.(Ile1340=)" "" "0000608995" "00001748" "10" "4122" "15" "4122" "15" "c.4122+15dup" "r.(=)" "p.(=)" "" "0000608996" "00001748" "50" "4255" "0" "4255" "0" "c.4255G>A" "r.(?)" "p.(Asp1419Asn)" "" "0000608997" "00001748" "30" "4372" "-12" "4372" "-12" "c.4372-12T>C" "r.(=)" "p.(=)" "" "0000608998" "00001748" "50" "4456" "0" "4456" "0" "c.4456G>C" "r.(?)" "p.(Val1486Leu)" "" "0000608999" "00001748" "30" "4456" "0" "4456" "0" "c.4456G>C" "r.(?)" "p.(Val1486Leu)" "" "0000609000" "00001748" "50" "4648" "0" "4648" "0" "c.4648G>C" "r.(?)" "p.(Glu1550Gln)" "" "0000609001" "00001748" "30" "4653" "0" "4653" "0" "c.4653C>T" "r.(?)" "p.(Ile1551=)" "" "0000609002" "00001748" "30" "5694" "0" "5694" "0" "c.5694A>G" "r.(?)" "p.(Thr1898=)" "" "0000609003" "00001748" "50" "5758" "0" "5758" "0" "c.5758G>A" "r.(?)" "p.(Gly1920Arg)" "" "0000609004" "00001748" "30" "6143" "0" "6143" "0" "c.6143A>G" "r.(?)" "p.(Gln2048Arg)" "" "0000609005" "00001748" "10" "6176" "0" "6176" "0" "c.6176C>T" "r.(?)" "p.(Thr2059Met)" "" "0000609007" "00001748" "30" "6632" "0" "6632" "0" "c.6632C>T" "r.(?)" "p.(Ala2211Val)" "" "0000609008" "00001748" "10" "6648" "0" "6648" "0" "c.6648C>G" "r.(?)" "p.(Gly2216=)" "" "0000609009" "00001748" "30" "7131" "0" "7131" "0" "c.7131C>T" "r.(?)" "p.(Asp2377=)" "" "0000609010" "00001748" "30" "7320" "0" "7320" "0" "c.7320C>T" "r.(?)" "p.(Ser2440=)" "" "0000609011" "00001748" "30" "7458" "0" "7458" "0" "c.7458C>G" "r.(?)" "p.(His2486Gln)" "" "0000609012" "00001748" "30" "7499" "0" "7499" "0" "c.7499C>T" "r.(?)" "p.(Thr2500Met)" "" "0000609013" "00001748" "30" "7758" "0" "7758" "0" "c.7758G>A" "r.(?)" "p.(Glu2586=)" "" "0000609014" "00001748" "30" "8166" "0" "8166" "0" "c.8166G>A" "r.(?)" "p.(Met2722Ile)" "" "0000609015" "00001748" "10" "8768" "0" "8768" "0" "c.8768A>G" "r.(?)" "p.(Gln2923Arg)" "" "0000609016" "00001748" "30" "8860" "0" "8860" "0" "c.8860T>A" "r.(?)" "p.(Phe2954Ile)" "" "0000609017" "00001748" "10" "9153" "0" "9153" "0" "c.9153C>T" "r.(?)" "p.(Asp3051=)" "" "0000609018" "00001748" "50" "9212" "0" "9212" "0" "c.9212T>G" "r.(?)" "p.(Val3071Gly)" "" "0000609019" "00001748" "30" "9526" "0" "9526" "0" "c.9526G>T" "r.(?)" "p.(Asp3176Tyr)" "" "0000609020" "00001748" "30" "9640" "0" "9640" "0" "c.9640A>G" "r.(?)" "p.(Thr3214Ala)" "" "0000609021" "00001748" "50" "9829" "0" "9829" "0" "c.9829T>C" "r.(?)" "p.(Ser3277Pro)" "" "0000609022" "00001748" "50" "10126" "0" "10126" "0" "c.10126G>A" "r.(?)" "p.(Gly3376Arg)" "" "0000609023" "00001748" "50" "10322" "0" "10322" "0" "c.10322G>A" "r.(?)" "p.(Arg3441Gln)" "" "0000609024" "00001748" "50" "10708" "0" "10708" "0" "c.10708G>A" "r.(?)" "p.(Glu3570Lys)" "" "0000609025" "00001748" "30" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "" "0000609026" "00001748" "10" "10901" "0" "10901" "0" "c.10901T>A" "r.(?)" "p.(Val3634Asp)" "" "0000609027" "00001748" "30" "10976" "0" "10976" "0" "c.10976G>T" "r.(?)" "p.(Arg3659Leu)" "" "0000609028" "00001748" "50" "11218" "0" "11218" "0" "c.11218C>A" "r.(?)" "p.(Leu3740Ile)" "" "0000609029" "00001748" "30" "11231" "0" "11231" "0" "c.11231C>A" "r.(?)" "p.(Thr3744Asn)" "" "0000609030" "00001748" "10" "11465" "0" "11465" "0" "c.11465G>C" "r.(?)" "p.(Gly3822Ala)" "" "0000609031" "00001748" "50" "11686" "0" "11686" "0" "c.11686G>T" "r.(?)" "p.(Val3896Leu)" "" "0000609032" "00001748" "30" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000609033" "00001748" "50" "11782" "0" "11782" "0" "c.11782G>C" "r.(?)" "p.(Val3928Leu)" "" "0000609034" "00001748" "30" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000621339" "00001748" "50" "85" "-23328" "85" "-23328" "c.85-23328C>G" "r.(=)" "p.(=)" "" "0000621340" "00001748" "30" "4554" "0" "4554" "0" "c.4554C>T" "r.(?)" "p.(Thr1518=)" "" "0000621341" "00001748" "10" "6912" "0" "6912" "0" "c.6912T>C" "r.(?)" "p.(Thr2304=)" "" "0000624938" "00001748" "50" "9679" "0" "9679" "0" "c.9679A>C" "r.(?)" "p.(Thr3227Pro)" "" "0000626444" "00001748" "50" "1442" "0" "1442" "0" "c.1442G>A" "r.(?)" "p.(Arg481Gln)" "" "0000651378" "00001748" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Arg379His)" "" "0000651379" "00001748" "50" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Arg946Cys)" "" "0000651380" "00001748" "50" "4502" "0" "4502" "0" "c.4502C>T" "r.(?)" "p.(Pro1501Leu)" "" "0000651381" "00001748" "30" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "" "0000651382" "00001748" "30" "9900" "0" "9900" "0" "c.9900C>A" "r.(?)" "p.(Ser3300Arg)" "" "0000651384" "00001748" "30" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000655072" "00001748" "10" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(Asn66=)" "" "0000655073" "00001748" "50" "7054" "0" "7059" "0" "c.7054_7059del" "r.(?)" "p.(Gly2352_Gln2353del)" "" "0000655074" "00001748" "30" "8903" "0" "8903" "0" "c.8903T>C" "r.(?)" "p.(Val2968Ala)" "" "0000677157" "00001748" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Val77=)" "" "0000677158" "00001748" "30" "2150" "0" "2150" "0" "c.2150A>C" "r.(?)" "p.(His717Pro)" "" "0000677159" "00001748" "10" "2964" "0" "2964" "0" "c.2964G>T" "r.(?)" "p.(Gly988=)" "" "0000677160" "00001748" "10" "4744" "0" "4744" "0" "c.4744C>T" "r.(?)" "p.(Arg1582Trp)" "" "0000677161" "00001748" "30" "7868" "0" "7868" "0" "c.7868C>G" "r.(?)" "p.(Ser2623Cys)" "" "0000677162" "00001748" "30" "8142" "0" "8142" "0" "c.8142T>A" "r.(?)" "p.(Val2714=)" "" "0000677163" "00001748" "30" "9556" "0" "9556" "0" "c.9556G>A" "r.(?)" "p.(Val3186Met)" "" "0000677164" "00001748" "30" "10660" "0" "10660" "0" "c.10660A>T" "r.(?)" "p.(Asn3554Tyr)" "" "0000677165" "00001748" "50" "11231" "0" "11231" "0" "c.11231C>A" "r.(?)" "p.(Thr3744Asn)" "" "0000677166" "00001748" "30" "11493" "0" "11493" "0" "c.11493G>T" "r.(?)" "p.(Glu3831Asp)" "" "0000677167" "00001748" "30" "11524" "0" "11524" "0" "c.11524C>T" "r.(?)" "p.(Arg3842Trp)" "" "0000677168" "00001748" "50" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000677169" "00001748" "30" "11807" "0" "11807" "0" "c.11807A>G" "r.(?)" "p.(Tyr3936Cys)" "" "0000689200" "00001748" "10" "483" "8" "483" "8" "c.483+8T>C" "r.(=)" "p.(=)" "" "0000689201" "00001748" "10" "2080" "-18" "2080" "-18" "c.2080-18G>T" "r.(=)" "p.(=)" "" "0000689202" "00001748" "30" "2727" "0" "2727" "0" "c.2727T>A" "r.(?)" "p.(Thr909=)" "" "0000689203" "00001748" "30" "2727" "0" "2727" "0" "c.2727T>A" "r.(?)" "p.(Thr909=)" "" "0000689204" "00001748" "30" "3255" "0" "3255" "0" "c.3255G>T" "r.(?)" "p.(Ala1085=)" "" "0000689205" "00001748" "10" "3366" "0" "3366" "0" "c.3366C>T" "r.(?)" "p.(Asn1122=)" "" "0000689206" "00001748" "10" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Ala1181=)" "" "0000689207" "00001748" "10" "4152" "0" "4152" "0" "c.4152T>C" "r.(?)" "p.(Asp1384=)" "" "0000689208" "00001748" "30" "5191" "0" "5191" "0" "c.5191G>T" "r.(?)" "p.(Gly1731Cys)" "" "0000689209" "00001748" "30" "5778" "0" "5778" "0" "c.5778G>A" "r.(?)" "p.(Pro1926=)" "" "0000689210" "00001748" "50" "10126" "0" "10126" "0" "c.10126G>A" "r.(?)" "p.(Gly3376Arg)" "" "0000689211" "00001748" "10" "11032" "10" "11032" "10" "c.11032+10T>A" "r.(=)" "p.(=)" "" "0000689212" "00001748" "10" "11465" "0" "11465" "0" "c.11465G>C" "r.(?)" "p.(Gly3822Ala)" "" "0000689213" "00001748" "10" "11694" "19" "11694" "19" "c.11694+19T>A" "r.(=)" "p.(=)" "" "0000709012" "00001748" "70" "4158" "0" "4158" "0" "c.4158C>G" "r.(?)" "p.(Phe1386Leu)" "" "0000719702" "00001748" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Val77=)" "" "0000719703" "00001748" "30" "2249" "0" "2249" "0" "c.2249A>G" "r.(?)" "p.(Gln750Arg)" "" "0000719704" "00001748" "30" "4287" "0" "4287" "0" "c.4287A>G" "r.(?)" "p.(Ser1429=)" "" "0000719705" "00001748" "30" "5426" "0" "5426" "0" "c.5426C>T" "r.(?)" "p.(Ala1809Val)" "" "0000719706" "00001748" "30" "6176" "0" "6176" "0" "c.6176C>T" "r.(?)" "p.(Thr2059Met)" "" "0000719707" "00001748" "30" "6633" "0" "6633" "0" "c.6633C>T" "r.(?)" "p.(Ala2211=)" "" "0000719708" "00001748" "50" "7267" "0" "7267" "0" "c.7267G>T" "r.(?)" "p.(Ala2423Ser)" "" "0000719709" "00001748" "30" "7488" "0" "7488" "0" "c.7488A>G" "r.(?)" "p.(Thr2496=)" "" "0000719710" "00001748" "50" "8455" "0" "8455" "0" "c.8455G>A" "r.(?)" "p.(Glu2819Lys)" "" "0000719711" "00001748" "30" "10861" "0" "10861" "0" "c.10861C>G" "r.(?)" "p.(Leu3621Val)" "" "0000719712" "00001748" "30" "11541" "0" "11541" "0" "c.11541A>G" "r.(?)" "p.(Val3847=)" "" "0000801465" "00001748" "50" "1076" "0" "1076" "0" "c.1076A>C" "r.(?)" "p.(Asp359Ala)" "" "0000801466" "00001748" "10" "1245" "0" "1245" "0" "c.1245A>G" "r.(?)" "p.(Glu415=)" "" "0000801467" "00001748" "10" "1881" "8" "1881" "8" "c.1881+8C>G" "r.(=)" "p.(=)" "" "0000801468" "00001748" "10" "1995" "0" "1995" "0" "c.1995A>G" "r.(?)" "p.(Pro665=)" "" "0000801469" "00001748" "50" "2472" "0" "2474" "0" "c.2472_2474del" "r.(?)" "p.(Thr826del)" "" "0000801470" "00001748" "50" "9825" "0" "9825" "0" "c.9825T>G" "r.(?)" "p.(Asp3275Glu)" "" "0000801471" "00001748" "10" "11718" "0" "11718" "0" "c.11718G>A" "r.(?)" "p.(Arg3906=)" "" "0000850487" "00001748" "30" "417" "0" "417" "0" "c.417A>G" "r.(?)" "p.(Gln139=)" "" "0000850488" "00001748" "30" "741" "0" "741" "0" "c.741C>T" "r.(?)" "p.(Asn247=)" "" "0000850489" "00001748" "30" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Leu1046=)" "" "0000850490" "00001748" "50" "3406" "0" "3406" "0" "c.3406A>G" "r.(?)" "p.(Lys1136Glu)" "" "0000850491" "00001748" "50" "3916" "0" "3916" "0" "c.3916C>A" "r.(?)" "p.(Gln1306Lys)" "" "0000850492" "00001748" "30" "4811" "0" "4811" "0" "c.4811G>A" "r.(?)" "p.(Arg1604Lys)" "" "0000850493" "00001748" "30" "4846" "0" "4846" "0" "c.4846T>C" "r.(?)" "p.(Cys1616Arg)" "" "0000850494" "00001748" "30" "5214" "0" "5214" "0" "c.5214T>G" "r.(?)" "p.(Gly1738=)" "" "0000850495" "00001748" "30" "5827" "0" "5827" "0" "c.5827G>A" "r.(?)" "p.(Gly1943Arg)" "" "0000850496" "00001748" "30" "6228" "0" "6228" "0" "c.6228G>T" "r.(?)" "p.(Lys2076Asn)" "" "0000850497" "00001748" "10" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Gly2212Ser)" "" "0000850498" "00001748" "30" "6854" "0" "6854" "0" "c.6854T>C" "r.(?)" "p.(Ile2285Thr)" "" "0000850499" "00001748" "30" "7168" "0" "7168" "0" "c.7168A>C" "r.(?)" "p.(Lys2390Gln)" "" "0000850500" "00001748" "30" "7196" "0" "7196" "0" "c.7196C>T" "r.(?)" "p.(Pro2399Leu)" "" "0000850501" "00001748" "30" "7396" "0" "7396" "0" "c.7396C>T" "r.(?)" "p.(Arg2466Cys)" "" "0000850502" "00001748" "50" "7535" "0" "7535" "0" "c.7535A>T" "r.(?)" "p.(Asp2512Val)" "" "0000850503" "00001748" "30" "9679" "0" "9679" "0" "c.9679A>C" "r.(?)" "p.(Thr3227Pro)" "" "0000850504" "00001748" "30" "9690" "0" "9690" "0" "c.9690G>A" "r.(?)" "p.(Thr3230=)" "" "0000850505" "00001748" "30" "10032" "0" "10032" "0" "c.10032A>G" "r.(?)" "p.(Pro3344=)" "" "0000850506" "00001748" "10" "10044" "0" "10044" "0" "c.10044C>G" "r.(?)" "p.(Leu3348=)" "" "0000850507" "00001748" "30" "10528" "0" "10528" "0" "c.10528G>T" "r.(?)" "p.(Ala3510Ser)" "" "0000850508" "00001748" "30" "11119" "0" "11119" "0" "c.11119G>A" "r.(?)" "p.(Asp3707Asn)" "" "0000850509" "00001748" "30" "11611" "-484" "11611" "-484" "c.11611-484G>A" "r.(=)" "p.(=)" "" "0000859210" "00001748" "10" "3136" "0" "3136" "0" "c.3136C>T" "r.(?)" "p.(Leu1046=)" "" "0000859211" "00001748" "50" "8324" "0" "8324" "0" "c.8324A>G" "r.(?)" "p.(His2775Arg)" "" "0000859212" "00001748" "30" "8728" "0" "8728" "0" "c.8728G>A" "r.(?)" "p.(Val2910Met)" "" "0000859213" "00001748" "50" "11609" "0" "11609" "0" "c.11609A>C" "r.(?)" "p.(Lys3870Thr)" "" "0000886087" "00001748" "30" "-145274" "0" "-145274" "0" "c.-145274G>C" "r.(?)" "p.(=)" "" "0000886088" "00001748" "50" "85" "-57062" "85" "-57062" "c.85-57062dup" "r.(=)" "p.(=)" "" "0000886089" "00001748" "10" "792" "15" "792" "15" "c.792+15A>G" "r.(=)" "p.(=)" "" "0000886090" "00001748" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Leu317Phe)" "" "0000886091" "00001748" "30" "4249" "-12" "4249" "-12" "c.4249-12T>G" "r.(=)" "p.(=)" "" "0000886092" "00001748" "10" "4527" "0" "4527" "0" "c.4527G>A" "r.(?)" "p.(Glu1509=)" "" "0000886093" "00001748" "30" "5898" "0" "5898" "0" "c.5898T>C" "r.(?)" "p.(Ser1966=)" "" "0000886094" "00001748" "50" "6505" "0" "6505" "0" "c.6505G>A" "r.(?)" "p.(Val2169Ile)" "" "0000886095" "00001748" "10" "6726" "0" "6726" "0" "c.6726G>A" "r.(?)" "p.(Thr2242=)" "" "0000886096" "00001748" "30" "6912" "0" "6912" "0" "c.6912T>C" "r.(?)" "p.(Thr2304=)" "" "0000886097" "00001748" "30" "7251" "0" "7251" "0" "c.7251T>C" "r.(?)" "p.(Asp2417=)" "" "0000886098" "00001748" "10" "7902" "0" "7902" "0" "c.7902G>A" "r.(?)" "p.(Val2634=)" "" "0000886099" "00001748" "10" "7943" "0" "7943" "0" "c.7943G>A" "r.(?)" "p.(Gly2648Asp)" "" "0000886100" "00001748" "30" "8124" "0" "8124" "0" "c.8124A>G" "r.(?)" "p.(Val2708=)" "" "0000886101" "00001748" "10" "8976" "0" "8976" "0" "c.8976C>T" "r.(?)" "p.(Asp2992=)" "" "0000886102" "00001748" "50" "9223" "0" "9223" "0" "c.9223T>A" "r.(?)" "p.(Ser3075Thr)" "" "0000886103" "00001748" "30" "9915" "0" "9915" "0" "c.9915T>G" "r.(?)" "p.(Pro3305=)" "" "0000886104" "00001748" "50" "11098" "0" "11098" "0" "c.11098T>G" "r.(?)" "p.(Ser3700Ala)" "" "0000886105" "00001748" "30" "11119" "0" "11119" "0" "c.11119G>A" "r.(?)" "p.(Asp3707Asn)" "" "0000886106" "00001748" "50" "11134" "0" "11134" "0" "c.11134G>A" "r.(?)" "p.(Val3712Ile)" "" "0000886107" "00001748" "30" "11225" "0" "11225" "0" "c.11225C>T" "r.(?)" "p.(Pro3742Leu)" "" "0000886108" "00001748" "50" "11825" "0" "11825" "0" "c.11825G>A" "r.(?)" "p.(Arg3942His)" "" "0000912034" "00001748" "30" "417" "0" "417" "0" "c.417A>G" "r.(?)" "p.(Gln139=)" "" "0000912035" "00001748" "10" "2277" "49" "2277" "49" "c.2277+49C>T" "r.(=)" "p.(=)" "" "0000912036" "00001748" "10" "2592" "0" "2592" "0" "c.2592T>C" "r.(?)" "p.(Pro864=)" "" "0000912037" "00001748" "30" "3927" "0" "3927" "0" "c.3927A>G" "r.(?)" "p.(Glu1309=)" "" "0000912038" "00001748" "10" "4123" "-19" "4123" "-19" "c.4123-19T>G" "r.(=)" "p.(=)" "" "0000912039" "00001748" "10" "4249" "-33" "4249" "-33" "c.4249-33G>A" "r.(=)" "p.(=)" "" "0000912040" "00001748" "30" "10881" "0" "10881" "0" "c.10881T>G" "r.(?)" "p.(His3627Gln)" "" "0000912041" "00001748" "10" "11032" "49" "11032" "50" "c.11032+49_11032+50del" "r.(=)" "p.(=)" "" "0000912042" "00001748" "30" "11864" "0" "11864" "0" "c.11864A>G" "r.(?)" "p.(Asn3955Ser)" "" "0000924038" "00001748" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(His370=)" "" "0000924039" "00001748" "50" "5807" "0" "5807" "0" "c.5807G>A" "r.(?)" "p.(Arg1936His)" "" "0000924040" "00001748" "50" "7267" "0" "7267" "0" "c.7267G>T" "r.(?)" "p.(Ala2423Ser)" "" "0000924041" "00001748" "30" "7729" "0" "7729" "0" "c.7729G>A" "r.(?)" "p.(Gly2577Arg)" "" "0000924042" "00001748" "50" "8140" "0" "8140" "0" "c.8140G>A" "r.(?)" "p.(Val2714Ile)" "" "0000924043" "00001748" "50" "9156" "0" "9158" "0" "c.9156_9158del" "r.(?)" "p.(Asp3052del)" "" "0000928856" "00001748" "10" "2754" "0" "2754" "0" "c.2754C>T" "r.(?)" "p.(=)" "" "0000928857" "00001748" "50" "5231" "0" "5231" "0" "c.5231C>A" "r.(?)" "p.(Ala1744Asp)" "" "0000928858" "00001748" "50" "6311" "0" "6311" "0" "c.6311G>A" "r.(?)" "p.(Ser2104Asn)" "" "0000948245" "00001748" "50" "466" "0" "466" "0" "c.466C>G" "r.(?)" "p.(Gln156Glu)" "" "0000948246" "00001748" "30" "4248" "4" "4248" "4" "c.4248+4A>G" "r.spl?" "p.?" "" "0000948247" "00001748" "10" "4359" "0" "4359" "0" "c.4359G>A" "r.(?)" "p.(=)" "" "0000948248" "00001748" "50" "5651" "0" "5651" "0" "c.5651C>T" "r.(?)" "p.(Ser1884Leu)" "" "0000948249" "00001748" "10" "10983" "0" "10983" "0" "c.10983T>C" "r.(?)" "p.(Ser3661=)" "" "0000948250" "00001748" "30" "11231" "0" "11231" "0" "c.11231C>A" "r.(?)" "p.(Thr3744Asn)" "" "0000955005" "00001748" "30" "10503" "0" "10503" "0" "c.10503A>G" "r.(?)" "p.(Ile3501Met)" "" "0000962984" "00001748" "30" "1288" "-19" "1288" "-19" "c.1288-19C>T" "r.(=)" "p.(=)" "" "0000962986" "00001748" "50" "8166" "0" "8166" "0" "c.8166G>A" "r.(?)" "p.(Met2722Ile)" "" "0000976074" "00001748" "30" "-145205" "0" "-145205" "0" "c.-145205G>A" "r.(?)" "p.(=)" "" "0000976075" "00001748" "50" "2684" "0" "2684" "0" "c.2684G>T" "r.(?)" "p.(Arg895Leu)" "" "0000976076" "00001748" "50" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Pro1166Ser)" "" "0000976077" "00001748" "50" "4373" "0" "4373" "0" "c.4373A>G" "r.(?)" "p.(Glu1458Gly)" "" "0000976078" "00001748" "50" "9163" "0" "9163" "0" "c.9163T>C" "r.(?)" "p.(Phe3055Leu)" "" "0000976079" "00001748" "50" "10573" "0" "10573" "0" "c.10573G>A" "r.(?)" "p.(Glu3525Lys)" "" "0000976080" "00001748" "30" "10881" "0" "10881" "0" "c.10881T>G" "r.(?)" "p.(His3627Gln)" "" "0000976081" "00001748" "50" "11225" "0" "11225" "0" "c.11225C>T" "r.(?)" "p.(Pro3742Leu)" "" "0000976082" "00001748" "50" "11824" "0" "11824" "0" "c.11824C>T" "r.(?)" "p.(Arg3942Cys)" "" "0000994016" "00001748" "50" "538" "0" "538" "0" "c.538G>T" "r.(?)" "p.(Ala180Ser)" "" "0000994018" "00001748" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Gly487Ser)" "" "0000994019" "00001748" "30" "2067" "0" "2067" "0" "c.2067C>T" "r.(?)" "p.(His689=)" "" "0000994020" "00001748" "50" "2074" "0" "2074" "0" "c.2074A>G" "r.(?)" "p.(Thr692Ala)" "" "0000994021" "00001748" "30" "2249" "0" "2249" "0" "c.2249A>G" "r.(?)" "p.(Gln750Arg)" "" "0000994022" "00001748" "50" "4045" "0" "4045" "0" "c.4045A>G" "r.(?)" "p.(Met1349Val)" "" "0000994023" "00001748" "50" "4270" "0" "4270" "0" "c.4270C>G" "r.(?)" "p.(Pro1424Ala)" "" "0000994024" "00001748" "30" "4994" "0" "4994" "0" "c.4994A>T" "r.(?)" "p.(Lys1665Ile)" "" "0000994025" "00001748" "50" "5426" "0" "5426" "0" "c.5426C>T" "r.(?)" "p.(Ala1809Val)" "" "0000994026" "00001748" "30" "5834" "0" "5834" "0" "c.5834C>T" "r.(?)" "p.(Thr1945Met)" "" "0000994027" "00001748" "50" "6584" "0" "6584" "0" "c.6584G>A" "r.(?)" "p.(Ser2195Asn)" "" "0000994028" "00001748" "30" "6854" "0" "6854" "0" "c.6854T>C" "r.(?)" "p.(Ile2285Thr)" "" "0000994029" "00001748" "30" "7168" "0" "7168" "0" "c.7168A>C" "r.(?)" "p.(Lys2390Gln)" "" "0000994030" "00001748" "30" "7516" "0" "7516" "0" "c.7516C>T" "r.(?)" "p.(Arg2506Trp)" "" "0000994031" "00001748" "30" "7889" "0" "7889" "0" "c.7889G>A" "r.(?)" "p.(Cys2630Tyr)" "" "0000994032" "00001748" "30" "8033" "0" "8033" "0" "c.8033A>T" "r.(?)" "p.(Asp2678Val)" "" "0000994033" "00001748" "10" "8133" "0" "8133" "0" "c.8133G>A" "r.(?)" "p.(Gln2711=)" "" "0000994034" "00001748" "30" "8330" "0" "8330" "0" "c.8330G>T" "r.(?)" "p.(Cys2777Phe)" "" "0000994035" "00001748" "30" "8417" "0" "8417" "0" "c.8417T>C" "r.(?)" "p.(Val2806Ala)" "" "0000994036" "00001748" "30" "8484" "0" "8484" "0" "c.8484T>C" "r.(?)" "p.(Asp2828=)" "" "0000994037" "00001748" "50" "9161" "0" "9161" "0" "c.9161C>G" "r.(?)" "p.(Ala3054Gly)" "" "0000994038" "00001748" "50" "9404" "0" "9404" "0" "c.9404G>T" "r.(?)" "p.(Gly3135Val)" "" "0000994039" "00001748" "30" "9854" "0" "9854" "0" "c.9854T>C" "r.(?)" "p.(Ile3285Thr)" "" "0000994040" "00001748" "30" "9916" "0" "9916" "0" "c.9916G>A" "r.(?)" "p.(Val3306Ile)" "" "0000994041" "00001748" "50" "10060" "0" "10060" "0" "c.10060C>G" "r.(?)" "p.(Leu3354Val)" "" "0000994042" "00001748" "30" "10289" "0" "10289" "0" "c.10289A>C" "r.(?)" "p.(Glu3430Ala)" "" "0000994043" "00001748" "30" "10327" "0" "10327" "0" "c.10327C>A" "r.(?)" "p.(Pro3443Thr)" "" "0000994044" "00001748" "30" "10364" "0" "10364" "0" "c.10364G>C" "r.(?)" "p.(Gly3455Ala)" "" "0000994045" "00001748" "30" "10948" "0" "10948" "0" "c.10948G>C" "r.(?)" "p.(Glu3650Gln)" "" "0000994046" "00001748" "50" "11039" "0" "11039" "0" "c.11039C>T" "r.(?)" "p.(Ser3680Leu)" "" "0000994047" "00001748" "50" "11098" "0" "11098" "0" "c.11098T>G" "r.(?)" "p.(Ser3700Ala)" "" "0000994048" "00001748" "50" "11537" "0" "11537" "0" "c.11537T>C" "r.(?)" "p.(Leu3846Pro)" "" "0000994049" "00001748" "50" "11681" "0" "11681" "0" "c.11681C>A" "r.(?)" "p.(Thr3894Asn)" "" "0000994050" "00001748" "30" "11716" "0" "11716" "0" "c.11716C>T" "r.(?)" "p.(Arg3906Trp)" "" "0000994051" "00001748" "30" "11791" "0" "11791" "0" "c.11791G>A" "r.(?)" "p.(Glu3931Lys)" "" "0000994052" "00001748" "30" "11864" "0" "11864" "0" "c.11864A>G" "r.(?)" "p.(Asn3955Ser)" "" "0001013929" "00001748" "30" "1136" "0" "1136" "0" "c.1136G>T" "r.(?)" "p.(Arg379Leu)" "" "0001013930" "00001748" "50" "8647" "0" "8647" "0" "c.8647T>G" "r.(?)" "p.(Phe2883Val)" "" "0001013931" "00001748" "10" "10395" "0" "10395" "0" "c.10395G>A" "r.(?)" "p.(Glu3465=)" "" "0001024881" "00001748" "30" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(=)" "" "0001024882" "00001748" "30" "1673" "0" "1673" "0" "c.1673T>C" "r.(?)" "p.(Leu558Ser)" "" "0001024883" "00001748" "50" "2633" "0" "2633" "0" "c.2633G>A" "r.(?)" "p.(Ser878Asn)" "" "0001024884" "00001748" "50" "4312" "0" "4312" "0" "c.4312A>G" "r.(?)" "p.(Arg1438Gly)" "" "0001034266" "00001748" "30" "1882" "-10" "1882" "-10" "c.1882-10T>C" "r.(=)" "p.(=)" "" "0001034267" "00001748" "50" "1895" "0" "1895" "0" "c.1895C>T" "r.(?)" "p.(Pro632Leu)" "" "0001034268" "00001748" "50" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Pro764Ser)" "" "0001034269" "00001748" "30" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Ala789Thr)" "" "0001034270" "00001748" "30" "2869" "0" "2869" "0" "c.2869G>A" "r.(?)" "p.(Val957Met)" "" "0001034271" "00001748" "10" "2970" "0" "2970" "0" "c.2970A>C" "r.(?)" "p.(Arg990=)" "" "0001034272" "00001748" "50" "5579" "0" "5579" "0" "c.5579C>T" "r.(?)" "p.(Ser1860Phe)" "" "0001034273" "00001748" "30" "6634" "0" "6634" "0" "c.6634G>A" "r.(?)" "p.(Gly2212Ser)" "" "0001034274" "00001748" "30" "7007" "0" "7007" "0" "c.7007C>T" "r.(?)" "p.(Ala2336Val)" "" "0001034275" "00001748" "30" "7831" "0" "7831" "0" "c.7831T>C" "r.(?)" "p.(Tyr2611His)" "" "0001034276" "00001748" "10" "9061" "0" "9061" "0" "c.9061G>A" "r.(?)" "p.(Ala3021Thr)" "" "0001034277" "00001748" "30" "9825" "0" "9825" "0" "c.9825T>G" "r.(?)" "p.(Asp3275Glu)" "" "0001034278" "00001748" "50" "10489" "0" "10497" "0" "c.10489_10497del" "r.(?)" "p.(Arg3497_Gln3499del)" "" "0001034279" "00001748" "30" "10702" "0" "10702" "0" "c.10702C>T" "r.(?)" "p.(Arg3568Trp)" "" "0001034280" "00001748" "50" "10877" "0" "10877" "0" "c.10877A>C" "r.(?)" "p.(Lys3626Thr)" "" "0001034281" "00001748" "30" "11231" "0" "11231" "0" "c.11231C>A" "r.(?)" "p.(Thr3744Asn)" "" "0001045944" "00001748" "30" "11218" "0" "11218" "0" "c.11218C>A" "r.(?)" "p.(Leu3740Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 76 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002354" "0000000210" "0000010394" "0000029017" "0000052351" "0000029018" "0000052353" "0000029018" "0000052354" "0000029025" "0000052366" "0000029029" "0000052371" "0000029036" "0000052377" "0000044020" "0000071824" "0000064201" "0000095187" "0000064204" "0000095196" "0000064205" "0000095199" "0000064208" "0000095210" "0000064241" "0000095333" "0000064256" "0000095403" "0000064261" "0000095419" "0000064270" "0000095452" "0000064273" "0000095461" "0000064273" "0000095462" "0000064287" "0000095502" "0000064288" "0000095507" "0000064304" "0000095570" "0000064306" "0000095576" "0000064309" "0000095588" "0000064313" "0000095601" "0000064325" "0000095632" "0000064330" "0000095649" "0000064341" "0000095685" "0000064351" "0000095718" "0000064352" "0000095721" "0000064359" "0000095743" "0000064397" "0000095789" "0000064855" "0000096506" "0000064866" "0000096519" "0000064875" "0000096528" "0000065303" "0000096980" "0000065304" "0000096981" "0000108007" "0000223727" "0000129239" "0000218380" "0000129266" "0000218415" "0000129305" "0000218468" "0000129326" "0000218498" "0000149112" "0000242416" "0000149113" "0000242417" "0000149114" "0000242418" "0000149115" "0000242419" "0000149116" "0000242420" "0000149117" "0000242421" "0000149118" "0000242422" "0000149119" "0000242423" "0000149120" "0000242424" "0000149121" "0000242425" "0000149122" "0000242426" "0000149123" "0000242427" "0000149124" "0000242428" "0000149125" "0000242429" "0000149126" "0000242430" "0000149127" "0000242431" "0000149128" "0000242432" "0000149129" "0000242433" "0000149130" "0000242434" "0000149131" "0000242435" "0000149132" "0000242436" "0000149133" "0000242437" "0000149134" "0000242438" "0000149135" "0000242439" "0000149136" "0000242440" "0000271083" "0000624938" "0000272518" "0000626444" "0000294689" "0000651378" "0000294690" "0000651379" "0000294691" "0000651380" "0000294692" "0000651381" "0000294693" "0000651382" "0000294695" "0000651384" "0000325858" "0000709012"