### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANK1) # 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}}" "ANK1" "ankyrin 1, erythrocytic" "8" "p11.21" "unknown" "NG_012820.2" "UD_132084409175" "" "https://www.LOVD.nl/ANK1" "" "1" "492" "286" "612641" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ANK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-15 10:13:31" "00006" "2025-09-05 09:40:19" ## 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}}" "00025918" "ANK1" "transcript variant 3" "005" "NM_000037.3" "" "NP_000028.3" "" "" "RefSeq select" "-84" "8208" "5643" "41655140" "41510744" "00006" "2024-03-05 09:02:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01561" "SPH1" "spherocytosis, type 1 (SPH1)" "AD;AR" "182900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-15 10:12:59" "05120" "-" "anemia, hemolytic" "" "" "" "" "" "00006" "2016-01-23 01:57:01" "" "" "05755" "lipodystrophy" "lipodystrophy" "" "" "" "" "" "00006" "2020-05-23 16:01:49" "" "" "05833" "SPH" "spherocytosis (SPH)" "" "" "" "" "" "00006" "2020-09-15 10:11:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ANK1" "01561" "ANK1" "05833" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00294632" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294633" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294634" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294635" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301765" "" "" "" "2" "" "00006" "{PMID:Patni 2020:31857427}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "FGL100.4/5" "00328824" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00329225" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00430365" "" "" "" "1" "" "04100" "" "" "M" "" "China" "" "0" "" "" "" "" "00430366" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "" "" "00430367" "" "" "" "1" "" "04100" "" "" "F" "" "China" "" "" "" "" "" "" "00448371" "" "" "" "1" "" "03132" "" "" "M" "no" "China" "" "" "" "" "" "" "00448372" "" "" "" "1" "" "03132" "" "" "F" "no" "China" "" "" "" "" "" "" "00466422" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00294632" "00198" "00294633" "00198" "00294634" "00198" "00294635" "00198" "00301765" "05755" "00328824" "00198" "00329225" "00198" "00430365" "05120" "00430366" "05120" "00430367" "05120" "00448371" "01561" "00448372" "01561" "00466422" "05833" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01561, 05120, 05755, 05833 ## Count = 7 "{{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}}" "0000228849" "05755" "00301765" "00006" "Familial, autosomal recessive" "" "see paper; ..., early onset intellectual disability; childhood development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus, cataracts; lipodystrophy more pronounced in upper and lower extremities, no associated muscular hypertrophy" "" "" "" "" "" "" "" "" "" "lipodystrophy" "" "0000247032" "00198" "00328824" "01807" "Unknown" "" "Spherocytosis (HP:0004444)" "" "" "" "" "" "" "" "" "" "" "" "0000247417" "00198" "00329225" "01807" "Unknown" "" "Spherocytosis (HP:0004444)" "" "" "" "" "" "" "" "" "" "" "" "0000321162" "05120" "00430365" "04100" "Isolated (sporadic)" "07y" "Splenomegaly，jaundice, anemia" "" "07y" "Splenomegaly，jaundice, anemia" "ankyrin" "" "" "" "" "SPH1" "hereditary spherocytosis" "" "0000321163" "05120" "00430366" "04100" "Familial" "00y01m" "anemia" "" "00y01m" "" "ankyrin" "" "" "" "" "SPH1" "hereditary spherocytosis" "" "0000321164" "05120" "00430367" "04100" "Isolated (sporadic)" "07y" "anemia" "" "07y" "anemia" "ankyrin" "" "" "" "" "SPH1" "hereditary spherocytosis" "" "0000351787" "05833" "00466422" "03544" "Familial" "" "HP:0001878, HP:0004444, HP:0004804" "" "" "" "" "" "" "" "" "SPH1" "hereditary spherocytosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295800" "00294632" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295801" "00294633" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295802" "00294634" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295803" "00294635" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302886" "00301765" "1" "00006" "00006" "2020-05-23 16:04:31" "00006" "2020-05-23 16:14:03" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330040" "00328824" "1" "01807" "01807" "2021-02-01 09:51:43" "00001" "2021-02-01 09:52:19" "SEQ" "DNA" "" "" "0000330444" "00329225" "1" "01807" "01807" "2021-02-08 10:37:01" "" "" "SEQ" "DNA" "" "" "0000431774" "00430365" "1" "04100" "04100" "2023-01-19 08:35:36" "" "" "SEQ-NG" "protein" "blood" "WES" "0000431775" "00430366" "1" "04100" "04100" "2023-01-19 09:52:28" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000431776" "00430367" "1" "04100" "04100" "2023-01-19 09:59:39" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000449949" "00448371" "1" "03132" "03132" "2024-03-05 06:22:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000449950" "00448372" "1" "03132" "03132" "2024-03-05 06:38:43" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000468085" "00466422" "1" "03544" "03544" "2025-09-01 07:30:49" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000302886" "LMNA" "0000431774" "ANK1" "0000431775" "ANK1" "0000431776" "ANK1" "0000449949" "ANK1" "0000449950" "ANK1" ## 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 = 191 "{{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}}" "0000148367" "0" "70" "8" "41571774" "41571774" "subst" "0" "01845" "ANK1_000013" "g.41571774T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41714256T>G" "" "likely pathogenic" "" "0000248228" "0" "10" "8" "41519462" "41519462" "subst" "0.777702" "02325" "ANK1_000113" "g.41519462A>G" "" "" "" "ANK1(NM_001142446.2):c.5602-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41661944A>G" "" "benign" "" "0000248229" "0" "10" "8" "41529856" "41529856" "subst" "0.993593" "02325" "ANK1_000023" "g.41529856A>G" "" "" "" "ANK1(NM_001142446.2):c.5219+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41672338A>G" "" "benign" "" "0000250931" "0" "10" "8" "41519462" "41519462" "subst" "0.777702" "02326" "ANK1_000113" "g.41519462A>G" "" "" "" "ANK1(NM_001142446.2):c.5602-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41661944A>G" "" "benign" "" "0000250932" "0" "10" "8" "41529856" "41529856" "subst" "0.993593" "02326" "ANK1_000023" "g.41529856A>G" "" "" "" "ANK1(NM_001142446.2):c.5219+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41672338A>G" "" "benign" "" "0000251416" "0" "10" "8" "41513071" "41513071" "subst" "0" "02326" "ANK1_000014" "g.41513071A>G" "" "" "" "ANK1(NM_001142446.2):c.*175T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41655552A>G" "" "benign" "" "0000251417" "0" "10" "8" "41542350" "41542350" "subst" "0" "02326" "ANK1_000028" "g.41542350A>G" "" "" "" "ANK1(NM_000037.4):c.4391-142T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41684832A>G" "" "benign" "" "0000251418" "0" "10" "8" "41545513" "41545513" "subst" "0" "02326" "ANK1_000030" "g.41545513A>G" "" "" "" "ANK1(NM_000037.4):c.4258+161T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41687995A>G" "" "benign" "" "0000251419" "0" "10" "8" "41555740" "41555740" "subst" "0" "02326" "ANK1_000055" "g.41555740A>G" "" "" "" "ANK1(NM_001142446.2):c.2682-101T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41698222A>G" "" "benign" "" "0000251420" "0" "10" "8" "41557101" "41557101" "subst" "0.0210854" "02326" "ANK1_000114" "g.41557101A>G" "" "" "" "ANK1(NM_000037.4):c.2462-35T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41699583A>G" "" "benign" "" "0000251421" "0" "10" "8" "41558037" "41558037" "subst" "0" "02326" "ANK1_000060" "g.41558037A>G" "" "" "" "ANK1(NM_000037.4):c.2462-971T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41700519A>G" "" "benign" "" "0000251422" "0" "10" "8" "41559185" "41559185" "del" "0.0271742" "02326" "ANK1_000065" "g.41559185del" "" "" "" "ANK1(NM_001142446.2):c.2488-45delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41701667del" "" "benign" "" "0000251423" "0" "10" "8" "41571963" "41571963" "subst" "0" "02326" "ANK1_000115" "g.41571963A>T" "" "" "" "ANK1(NM_000037.4):c.1702-191T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41714445A>T" "" "benign" "" "0000251424" "0" "10" "8" "41574736" "41574736" "subst" "0" "02326" "ANK1_000082" "g.41574736A>C" "" "" "" "ANK1(NM_000037.4):c.1306-167T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41717218A>C" "" "benign" "" "0000251425" "0" "10" "8" "41575751" "41575751" "del" "0" "02326" "ANK1_000116" "g.41575751del" "" "" "" "ANK1(NM_001142446.2):c.1207-28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41718233del" "" "benign" "" "0000252394" "0" "70" "8" "41584850" "41584850" "subst" "0" "02326" "ANK1_000117" "g.41584850A>G" "" "" "" "ANK1(NM_001142446.2):c.443T>C (p.L148P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727332A>G" "" "likely pathogenic" "" "0000252408" "0" "70" "8" "41585508" "41585508" "subst" "0" "02326" "ANK1_000101" "g.41585508A>G" "" "" "" "ANK1(NM_001142446.2):c.344T>C (p.L115P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727990A>G" "" "likely pathogenic" "" "0000252721" "0" "50" "8" "41577315" "41577315" "subst" "0" "02326" "ANK1_000085" "g.41577315A>G" "" "" "" "ANK1(NM_000037.4):c.971T>C (p.L324P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41719797A>G" "" "VUS" "" "0000259080" "0" "10" "8" "41553928" "41553928" "subst" "0.486275" "02325" "ANK1_000051" "g.41553928C>G" "" "" "" "ANK1(NM_000037.4):c.2913G>C (p.L971=), ANK1(NM_001142446.2):c.3036G>C (p.L1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41696410C>G" "" "benign" "" "0000259081" "0" "10" "8" "41585438" "41585438" "subst" "0.240669" "02325" "ANK1_000100" "g.41585438G>A" "" "" "" "ANK1(NM_000037.4):c.315C>T (p.N105=), ANK1(NM_001142446.2):c.414C>T (p.N138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727920G>A" "" "benign" "" "0000259082" "0" "10" "8" "41525914" "41525914" "subst" "0.217069" "02325" "ANK1_000022" "g.41525914C>T" "" "" "" "ANK1(NM_001142446.2):c.5388G>A (p.V1796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41668396C>T" "" "benign" "" "0000259646" "0" "50" "8" "41552208" "41552208" "subst" "0.000203113" "02325" "ANK1_000047" "g.41552208C>G" "" "" "" "ANK1(NM_001142446.2):c.3352G>C (p.G1118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41694690C>G" "" "VUS" "" "0000260857" "0" "10" "8" "41513294" "41513294" "subst" "0.000383702" "02326" "ANK1_000015" "g.41513294G>A" "" "" "" "ANK1(NM_000037.4):c.*37-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41655775G>A" "" "benign" "" "0000260858" "0" "10" "8" "41580607" "41580607" "subst" "0.326419" "02326" "ANK1_000088" "g.41580607T>C" "" "" "" "ANK1(NM_001142446.2):c.1008+36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41723089T>C" "" "benign" "" "0000260859" "0" "10" "8" "41580636" "41580636" "subst" "0.0459249" "02326" "ANK1_000089" "g.41580636T>C" "" "" "" "ANK1(NM_001142446.2):c.1008+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41723118T>C" "" "benign" "" "0000260860" "0" "10" "8" "41577121" "41577121" "subst" "0" "02326" "ANK1_000084" "g.41577121C>G" "" "" "" "ANK1(NM_000037.4):c.1107+58G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41719603C>G" "" "benign" "" "0000260861" "0" "10" "8" "41575439" "41575439" "subst" "0" "02326" "ANK1_000083" "g.41575439G>A" "" "" "" "ANK1(NM_000037.4):c.1206+185C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41717921G>A" "" "benign" "" "0000260862" "0" "10" "8" "41753843" "41753843" "subst" "0.183881" "02326" "ANK1_000135" "g.41753843C>G" "" "" "" "ANK1(NM_001142446.2):c.126+30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41896325C>G" "" "benign" "" "0000260863" "0" "10" "8" "41591765" "41591765" "subst" "0" "02326" "ANK1_000109" "g.41591765C>T" "" "" "" "ANK1(NM_000037.4):c.130-178G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41734247C>T" "" "benign" "" "0000260864" "0" "10" "8" "41591650" "41591650" "subst" "0" "02326" "ANK1_000108" "g.41591650G>T" "" "" "" "ANK1(NM_000037.4):c.130-63C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41734132G>T" "" "benign" "" "0000260865" "0" "10" "8" "41574555" "41574555" "subst" "0.0212045" "02326" "ANK1_000081" "g.41574555C>T" "" "" "" "ANK1(NM_000037.4):c.1320G>A (p.P440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41717037C>T" "" "benign" "" "0000260866" "0" "30" "8" "41574488" "41574488" "subst" "0.000690294" "02326" "ANK1_000080" "g.41574488C>T" "" "" "" "ANK1(NM_000037.4):c.1387G>A (p.V463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41716970C>T" "" "likely benign" "" "0000260867" "0" "10" "8" "41574432" "41574432" "subst" "0.0110768" "02326" "ANK1_000079" "g.41574432C>T" "" "" "" "ANK1(NM_000037.4):c.1404+39G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41716914C>T" "" "benign" "" "0000260868" "0" "10" "8" "41573488" "41573488" "subst" "0" "02326" "ANK1_000077" "g.41573488G>A" "" "" "" "ANK1(NM_000037.4):c.1405-121C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41715970G>A" "" "benign" "" "0000260869" "0" "10" "8" "41574290" "41574290" "subst" "0" "02326" "ANK1_000078" "g.41574290C>T" "" "" "" "ANK1(NM_001142446.2):c.1503+181G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41716772C>T" "" "benign" "" "0000260870" "0" "10" "8" "41573266" "41573266" "subst" "0.00389448" "02326" "ANK1_000076" "g.41573266G>A" "" "" "" "ANK1(NM_000037.4):c.1506C>T (p.A502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41715748G>A" "" "benign" "" "0000260871" "0" "10" "8" "41571826" "41571826" "subst" "0" "02326" "ANK1_000075" "g.41571826C>G" "" "" "" "ANK1(NM_000037.4):c.1702-54G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41714308C>G" "" "benign" "" "0000260873" "0" "10" "8" "41591534" "41591534" "subst" "0.0158974" "02326" "ANK1_000106" "g.41591534C>G" "" "" "" "ANK1(NM_000037.4):c.183G>C (p.V61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41734016C>G" "" "benign" "" "0000260874" "0" "10" "8" "41566438" "41566438" "subst" "0.0439805" "02326" "ANK1_000072" "g.41566438C>T" "" "" "" "ANK1(NM_000037.4):c.1856G>A (p.R619H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41708920C>T" "" "benign" "" "0000260875" "0" "10" "8" "41571692" "41571692" "subst" "0.0222583" "02326" "ANK1_000074" "g.41571692G>T" "" "" "" "ANK1(NM_001142446.2):c.1881C>A (p.S627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41714174G>T" "" "benign" "" "0000260876" "0" "10" "8" "41563791" "41563791" "subst" "0.0212959" "02326" "ANK1_000071" "g.41563791T>G" "" "" "" "ANK1(NM_000037.4):c.1999-32A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41706273T>G" "" "benign" "" "0000260877" "0" "10" "8" "41563685" "41563685" "subst" "0.260707" "02326" "ANK1_000070" "g.41563685G>A" "" "" "" "ANK1(NM_001142446.2):c.2172C>T (p.G724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41706167G>A" "" "benign" "" "0000260878" "0" "10" "8" "41562081" "41562081" "subst" "0" "02326" "ANK1_000069" "g.41562081C>T" "" "" "" "ANK1(NM_001142446.2):c.2197-91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41704563C>T" "" "benign" "" "0000260879" "0" "10" "8" "41615429" "41615429" "subst" "0" "02326" "ANK1_000110" "g.41615429G>A" "" "" "" "ANK1(NM_001142446.2):c.228+125C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757911G>A" "" "benign" "" "0000260880" "0" "10" "8" "41585577" "41585577" "subst" "0" "02326" "ANK1_000103" "g.41585577G>A" "" "" "" "ANK1(NM_000037.4):c.229-53C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41728059G>A" "" "benign" "" "0000260881" "0" "10" "8" "41585579" "41585579" "subst" "0" "02326" "ANK1_000104" "g.41585579G>A" "" "" "" "ANK1(NM_000037.4):c.229-55C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41728061G>A" "" "benign" "" "0000260882" "0" "10" "8" "41591643" "41591643" "subst" "0" "02326" "ANK1_000107" "g.41591643C>T" "" "" "" "ANK1(NM_001142446.2):c.229-56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41734125C>T" "" "benign" "" "0000260883" "0" "10" "8" "41561446" "41561446" "subst" "0" "02326" "ANK1_000068" "g.41561446C>A" "" "" "" "ANK1(NM_000037.4):c.2295+113G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41703928C>A" "" "benign" "" "0000260884" "0" "10" "8" "41559697" "41559697" "subst" "0.0209774" "02326" "ANK1_000067" "g.41559697G>T" "" "" "" "ANK1(NM_000037.4):c.2296-35C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41702179G>T" "" "benign" "" "0000260885" "0" "10" "8" "41559470" "41559470" "subst" "0" "02326" "ANK1_000066" "g.41559470C>G" "" "" "" "ANK1(NM_000037.4):c.2388+100G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41701952C>G" "" "benign" "" "0000260886" "0" "10" "8" "41559126" "41559126" "subst" "0.00397596" "02326" "ANK1_000064" "g.41559126C>T" "" "" "" "ANK1(NM_000037.4):c.2403G>A (p.K801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41701608C>T" "" "benign" "" "0000260887" "0" "10" "8" "41558954" "41558954" "subst" "0" "02326" "ANK1_000063" "g.41558954T>C" "" "" "" "ANK1(NM_000037.4):c.2461+114A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41701436T>C" "" "benign" "" "0000260888" "0" "10" "8" "41558898" "41558898" "subst" "0" "02326" "ANK1_000062" "g.41558898T>G" "" "" "" "ANK1(NM_000037.4):c.2461+170A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41701380T>G" "" "benign" "" "0000260889" "0" "10" "8" "41558095" "41558095" "subst" "0" "02326" "ANK1_000061" "g.41558095C>A" "" "" "" "ANK1(NM_000037.4):c.2461+973G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41700577C>A" "" "benign" "" "0000260890" "0" "10" "8" "41557096" "41557096" "subst" "0.0210954" "02326" "ANK1_000058" "g.41557096G>A" "" "" "" "ANK1(NM_000037.4):c.2462-30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41699578G>A" "" "benign" "" "0000260891" "0" "10" "8" "41556886" "41556886" "subst" "0" "02326" "ANK1_000057" "g.41556886T>C" "" "" "" "ANK1(NM_000037.4):c.2558+84A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41699368T>C" "" "benign" "" "0000260892" "0" "10" "8" "41555736" "41555736" "subst" "0" "02326" "ANK1_000054" "g.41555736C>T" "" "" "" "ANK1(NM_000037.4):c.2559-97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41698218C>T" "" "benign" "" "0000260893" "0" "10" "8" "41557121" "41557121" "subst" "0" "02326" "ANK1_000059" "g.41557121T>C" "" "" "" "ANK1(NM_001142446.2):c.2585-55A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41699603T>C" "" "benign" "" "0000260894" "0" "90" "8" "41555574" "41555574" "del" "0" "02326" "ANK1_000053" "g.41555574del" "" "" "" "ANK1(NM_000037.4):c.2625delA (p.E876Sfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41698056del" "" "pathogenic" "" "0000260895" "0" "10" "8" "41556842" "41556842" "subst" "0" "02326" "ANK1_000056" "g.41556842C>T" "" "" "" "ANK1(NM_001142446.2):c.2681+128G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41699324C>T" "" "benign" "" "0000260896" "0" "10" "8" "41555473" "41555473" "subst" "0" "02326" "ANK1_000052" "g.41555473T>C" "" "" "" "ANK1(NM_001142446.2):c.2760+88A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41697955T>C" "" "benign" "" "0000260897" "0" "10" "8" "41615806" "41615806" "subst" "0" "02326" "ANK1_000111" "g.41615806G>T" "" "" "" "ANK1(NM_000037.4):c.28-151C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758288G>T" "" "benign" "" "0000260898" "0" "10" "8" "41553835" "41553835" "subst" "0.301209" "02326" "ANK1_000050" "g.41553835G>A" "" "" "" "ANK1(NM_000037.4):c.2960+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41696317G>A" "" "benign" "" "0000260899" "0" "10" "8" "41553928" "41553928" "subst" "0.486275" "02326" "ANK1_000051" "g.41553928C>G" "" "" "" "ANK1(NM_000037.4):c.2913G>C (p.L971=), ANK1(NM_001142446.2):c.3036G>C (p.L1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41696410C>G" "" "benign" "" "0000260900" "0" "10" "8" "41552765" "41552765" "subst" "9.34063E-5" "02326" "ANK1_000049" "g.41552765G>A" "" "" "" "ANK1(NM_000037.4):c.3045C>T (p.S1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41695247G>A" "" "benign" "" "0000260901" "0" "10" "8" "41591274" "41591274" "subst" "0" "02326" "ANK1_000105" "g.41591274G>A" "" "" "" "ANK1(NM_001142446.2):c.327+215C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41733756G>A" "" "benign" "" "0000260902" "0" "10" "8" "41585571" "41585571" "subst" "0.588558" "02326" "ANK1_000102" "g.41585571C>T" "" "" "" "ANK1(NM_001142446.2):c.328-47G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41728053C>T" "" "benign" "" "0000260903" "0" "10" "8" "41552046" "41552046" "subst" "0" "02326" "ANK1_000046" "g.41552046T>C" "" "" "" "ANK1(NM_000037.4):c.3327+64A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41694528T>C" "" "benign" "" "0000260904" "0" "10" "8" "41551720" "41551720" "subst" "0" "02326" "ANK1_000045" "g.41551720G>A" "" "" "" "ANK1(NM_000037.4):c.3328-100C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41694202G>A" "" "benign" "" "0000260905" "0" "10" "8" "41550780" "41550780" "subst" "0" "02326" "ANK1_000043" "g.41550780T>C" "" "" "" "ANK1(NM_000037.4):c.3533-61A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41693262T>C" "" "benign" "" "0000260906" "0" "10" "8" "41550787" "41550787" "subst" "0" "02326" "ANK1_000044" "g.41550787C>T" "" "" "" "ANK1(NM_000037.4):c.3533-68G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41693269C>T" "" "benign" "" "0000260907" "0" "10" "8" "41550510" "41550510" "subst" "0" "02326" "ANK1_000042" "g.41550510C>T" "" "" "" "ANK1(NM_000037.4):c.3629+113G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41692992C>T" "" "benign" "" "0000260908" "0" "10" "8" "41550469" "41550469" "del" "0" "02326" "ANK1_000041" "g.41550469del" "" "" "" "ANK1(NM_000037.4):c.3630-73delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41692951del" "" "benign" "" "0000260909" "0" "10" "8" "41548153" "41548153" "subst" "0.00375093" "02326" "ANK1_000038" "g.41548153G>C" "" "" "" "ANK1(NM_000037.4):c.3859-36C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690635G>C" "" "benign" "" "0000260910" "0" "10" "8" "41548209" "41548209" "subst" "0" "02326" "ANK1_000039" "g.41548209C>T" "" "" "" "ANK1(NM_000037.4):c.3859-92G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690691C>T" "" "benign" "" "0000260911" "0" "10" "8" "41548003" "41548003" "subst" "0.0132075" "02326" "ANK1_000037" "g.41548003T>C" "" "" "" "ANK1(NM_000037.4):c.3973A>G (p.M1325V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690485T>C" "" "benign" "" "0000260912" "0" "90" "8" "41546108" "41546108" "subst" "0" "02326" "ANK1_000031" "g.41546108C>T" "" "" "" "ANK1(NM_000037.4):c.4105-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41688590C>T" "" "pathogenic" "" "0000260913" "0" "50" "8" "41547864" "41547864" "subst" "0" "02326" "ANK1_000036" "g.41547864C>A" "" "" "" "ANK1(NM_001142446.2):c.4108G>T (p.V1370L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690346C>A" "" "VUS" "" "0000260914" "0" "10" "8" "41547841" "41547841" "subst" "0.0128476" "02326" "ANK1_000035" "g.41547841C>T" "" "" "" "ANK1(NM_001142446.2):c.4131G>A (p.P1377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690323C>T" "" "benign" "" "0000260915" "0" "10" "8" "41585438" "41585438" "subst" "0.240669" "02326" "ANK1_000100" "g.41585438G>A" "" "" "" "ANK1(NM_000037.4):c.315C>T (p.N105=), ANK1(NM_001142446.2):c.414C>T (p.N138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41727920G>A" "" "benign" "" "0000260916" "0" "10" "8" "41547748" "41547748" "subst" "0.0787417" "02326" "ANK1_000034" "g.41547748G>A" "" "" "" "ANK1(NM_001142446.2):c.4224C>T (p.A1408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690230G>A" "" "benign" "" "0000260917" "0" "10" "8" "41547683" "41547683" "subst" "0" "02326" "ANK1_000033" "g.41547683T>C" "" "" "" "ANK1(NM_001142446.2):c.4227+62A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690165T>C" "" "benign" "" "0000260918" "0" "10" "8" "41547660" "41547660" "subst" "0" "02326" "ANK1_000032" "g.41547660G>A" "" "" "" "ANK1(NM_001142446.2):c.4227+85C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690142G>A" "" "benign" "" "0000260919" "0" "10" "8" "41543675" "41543675" "subst" "0.0228733" "02326" "ANK1_000029" "g.41543675G>A" "" "" "" "ANK1(NM_001142446.2):c.4508C>T (p.A1503V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41686157G>A" "" "benign" "" "0000260920" "0" "10" "8" "41583441" "41583441" "subst" "0.0460269" "02326" "ANK1_000099" "g.41583441T>C" "" "" "" "ANK1(NM_000037.4):c.450A>G (p.V150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41725923T>C" "" "benign" "" "0000260921" "0" "10" "8" "41542093" "41542093" "subst" "0.0229028" "02326" "ANK1_000027" "g.41542093G>A" "" "" "" "ANK1(NM_001142446.2):c.4629C>T (p.R1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41684575G>A" "" "benign" "" "0000260922" "0" "10" "8" "41541978" "41541978" "subst" "0" "02326" "ANK1_000026" "g.41541978C>T" "" "" "" "ANK1(NM_001142446.2):c.4660+84G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41684460C>T" "" "benign" "" "0000260923" "0" "10" "8" "41530482" "41530482" "subst" "0" "02326" "ANK1_000025" "g.41530482C>G" "" "" "" "ANK1(NM_001142446.2):c.4661-52G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41672964C>G" "" "benign" "" "0000260924" "0" "90" "8" "41529924" "41529924" "subst" "0" "02326" "ANK1_000007" "g.41529924G>A" "" "" "" "ANK1(NM_000037.4):c.5044C>T (p.R1682*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41672406G>A" "" "pathogenic" "" "0000260926" "0" "10" "8" "41525914" "41525914" "subst" "0.217069" "02326" "ANK1_000022" "g.41525914C>T" "" "" "" "ANK1(NM_001142446.2):c.5388G>A (p.V1796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41668396C>T" "" "benign" "" "0000260927" "0" "10" "8" "41522407" "41522407" "subst" "0.00733314" "02326" "ANK1_000019" "g.41522407G>C" "" "" "" "ANK1(NM_000037.4):c.5395-1147C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41664889G>C" "" "benign" "" "0000260928" "0" "10" "8" "41522546" "41522546" "subst" "0.0026609" "02326" "ANK1_000021" "g.41522546G>A" "" "" "" "ANK1(NM_000037.4):c.5395-1286C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41665028G>A" "" "benign" "" "0000260929" "0" "10" "8" "41519504" "41519504" "subst" "0.00393608" "02326" "ANK1_000018" "g.41519504C>T" "" "" "" "ANK1(NM_000037.4):c.5479-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41661986C>T" "" "benign" "" "0000260930" "0" "10" "8" "41519303" "41519303" "subst" "0.00908281" "02326" "ANK1_000017" "g.41519303G>A" "" "" "" "ANK1(NM_000037.4):c.5544+91C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41661785G>A" "" "benign" "" "0000260931" "0" "10" "8" "41519248" "41519248" "subst" "0.782585" "02326" "ANK1_000016" "g.41519248T>C" "" "" "" "ANK1(NM_001142446.2):c.5667+146A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41661730T>C" "" "benign" "" "0000260932" "0" "10" "8" "41583294" "41583294" "subst" "0.133383" "02326" "ANK1_000098" "g.41583294C>T" "" "" "" "ANK1(NM_000037.4):c.597G>A (p.P199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41725776C>T" "" "benign" "" "0000260933" "0" "10" "8" "41583215" "41583215" "subst" "0" "02326" "ANK1_000097" "g.41583215C>T" "" "" "" "ANK1(NM_000037.4):c.612+64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41725697C>T" "" "benign" "" "0000260934" "0" "10" "8" "41583202" "41583202" "subst" "0" "02326" "ANK1_000096" "g.41583202G>A" "" "" "" "ANK1(NM_000037.4):c.612+77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41725684G>A" "" "benign" "" "0000260935" "0" "30" "8" "41582031" "41582031" "subst" "0.0113901" "02326" "ANK1_000095" "g.41582031G>T" "" "" "" "ANK1(NM_000037.4):c.654C>A (p.N218K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41724513G>T" "" "likely benign" "" "0000260936" "0" "10" "8" "41581954" "41581954" "subst" "5.1443E-5" "02326" "ANK1_000093" "g.41581954C>T" "" "" "" "ANK1(NM_000037.4):c.711+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41724436C>T" "" "benign" "" "0000260937" "0" "10" "8" "41581180" "41581180" "subst" "0.00271085" "02326" "ANK1_000092" "g.41581180C>A" "" "" "" "ANK1(NM_000037.4):c.712-29G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41723662C>A" "" "benign" "" "0000260938" "0" "10" "8" "41580906" "41580906" "subst" "0" "02326" "ANK1_000091" "g.41580906G>A" "" "" "" "ANK1(NM_000037.4):c.810+147C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41723388G>A" "" "benign" "" "0000260939" "0" "10" "8" "41580465" "41580465" "subst" "0" "02326" "ANK1_000087" "g.41580465T>C" "" "" "" "ANK1(NM_000037.4):c.909+178A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41722947T>C" "" "benign" "" "0000260940" "0" "10" "8" "41577495" "41577495" "subst" "0" "02326" "ANK1_000086" "g.41577495T>C" "" "" "" "ANK1(NM_000037.4):c.910-119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41719977T>C" "" "benign" "" "0000260941" "0" "10" "8" "41580676" "41580676" "subst" "0.000369525" "02326" "ANK1_000090" "g.41580676C>T" "" "" "" "ANK1(NM_001142446.2):c.975G>A (p.L325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41723158C>T" "" "benign" "" "0000262448" "0" "50" "8" "41753896" "41753896" "subst" "0" "01943" "ANK1_000136" "g.41753896G>A" "" "" "" "ANK1(NM_001142446.1):c.103C>T (p.R35C), ANK1(NM_001142446.2):c.103C>T (p.R35C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41896378G>A" "" "VUS" "" "0000262449" "0" "10" "8" "41522422" "41522422" "subst" "0.00235329" "01943" "ANK1_000020" "g.41522422G>T" "" "" "" "ANK1(NM_020478.4):c.120C>A (p.I40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41664904G>T" "" "benign" "" "0000262450" "0" "30" "8" "41550195" "41550195" "subst" "0.000775773" "01943" "ANK1_000040" "g.41550195C>T" "" "" "" "ANK1(NM_001142446.1):c.3952G>A (p.V1318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41692677C>T" "" "likely benign" "" "0000262451" "0" "10" "8" "41582010" "41582010" "subst" "0.000767247" "01943" "ANK1_000094" "g.41582010G>A" "" "" "" "ANK1(NM_001142446.1):c.774C>T (p.L258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41724492G>A" "" "benign" "" "0000332110" "0" "50" "8" "41552217" "41552217" "subst" "6.09241E-5" "01804" "ANK1_000048" "g.41552217C>T" "" "" "" "ANK1(NM_000037.3):c.3220G>A (p.(Asp1074Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41694699C>T" "" "VUS" "" "0000344527" "0" "90" "8" "41550210" "41550210" "subst" "0" "02327" "ANK1_000112" "g.41550210G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41692692G>A" "" "pathogenic" "" "0000534775" "0" "30" "8" "41526116" "41526116" "subst" "0.00370737" "02326" "ANK1_000118" "g.41526116G>A" "" "" "" "ANK1(NM_000037.4):c.5097-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41668598G>A" "" "likely benign" "" "0000534776" "0" "10" "8" "41529789" "41529789" "subst" "0" "02326" "ANK1_000119" "g.41529789C>T" "" "" "" "ANK1(NM_001142446.2):c.5219+83G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41672271C>T" "" "benign" "" "0000534777" "0" "90" "8" "41529889" "41529890" "ins" "0" "02326" "ANK1_000120" "g.41529889_41529890insCTGA" "" "" "" "ANK1(NM_000037.4):c.5078_5079insTCAG (p.E1694Qfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41672371_41672372insCTGA" "" "pathogenic" "" "0000534778" "0" "90" "8" "41548044" "41548044" "subst" "6.90585E-5" "02326" "ANK1_000121" "g.41548044C>T" "" "" "" "ANK1(NM_000037.4):c.3932G>A (p.R1311Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690526C>T" "" "pathogenic" "" "0000534779" "0" "10" "8" "41548312" "41548312" "subst" "0" "02326" "ANK1_000122" "g.41548312C>T" "" "" "" "ANK1(NM_000037.4):c.3859-195G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690794C>T" "" "benign" "" "0000534780" "0" "90" "8" "41550270" "41550270" "subst" "0" "02326" "ANK1_000123" "g.41550270G>A" "" "" "" "ANK1(NM_000037.4):c.3754C>T (p.R1252*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41692752G>A" "" "pathogenic" "" "0000534781" "0" "30" "8" "41552814" "41552814" "subst" "0" "01943" "ANK1_000124" "g.41552814T>G" "" "" "" "ANK1(NM_001142446.1):c.3119A>C (p.H1040P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41695296T>G" "" "likely benign" "" "0000534782" "0" "30" "8" "41553938" "41553938" "subst" "0" "01943" "ANK1_000125" "g.41553938T>G" "" "" "" "ANK1(NM_001142446.1):c.3026A>C (p.E1009A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41696420T>G" "" "likely benign" "" "0000534783" "0" "10" "8" "41557149" "41557149" "subst" "0" "02326" "ANK1_000126" "g.41557149G>A" "" "" "" "ANK1(NM_000037.4):c.2462-83C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41699631G>A" "" "benign" "" "0000534784" "0" "10" "8" "41559284" "41559284" "subst" "0" "02326" "ANK1_000127" "g.41559284C>G" "" "" "" "ANK1(NM_000037.4):c.2389-144G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41701766C>G" "" "benign" "" "0000534785" "0" "10" "8" "41559609" "41559609" "subst" "0.260838" "02325" "ANK1_000128" "g.41559609G>A" "" "" "" "ANK1(NM_001142446.2):c.2448C>T (p.T816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41702091G>A" "" "benign" "" "0000534786" "0" "10" "8" "41559609" "41559609" "subst" "0.260838" "02326" "ANK1_000128" "g.41559609G>A" "" "" "" "ANK1(NM_001142446.2):c.2448C>T (p.T816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41702091G>A" "" "benign" "" "0000534787" "0" "10" "8" "41561383" "41561383" "subst" "0" "02326" "ANK1_000129" "g.41561383G>A" "" "" "" "ANK1(NM_001142446.2):c.2394+176C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41703865G>A" "" "benign" "" "0000534788" "0" "10" "8" "41566651" "41566654" "dup" "0" "02326" "ANK1_000130" "g.41566651_41566654dup" "" "" "" "ANK1(NM_000037.4):c.1801-146_1801-143dupGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41709133_41709136dup" "" "benign" "" "0000534789" "0" "90" "8" "41573269" "41573278" "del" "0" "02325" "ANK1_000131" "g.41573269_41573278del" "" "" "" "ANK1(NM_001142446.2):c.1594_1603delGCCACCACCG (p.A532Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41715751_41715760del" "" "pathogenic" "" "0000534790" "0" "70" "8" "41584853" "41584853" "subst" "0" "02326" "ANK1_000132" "g.41584853G>A" "" "" "" "ANK1(NM_000037.4):c.341C>T (p.P114L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41727335G>A" "" "likely pathogenic" "" "0000534791" "0" "10" "8" "41585384" "41585384" "subst" "0.26276" "02326" "ANK1_000133" "g.41585384T>G" "" "" "" "ANK1(NM_001142446.2):c.426+42A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41727866T>G" "" "benign" "" "0000534792" "0" "30" "8" "41591499" "41591499" "subst" "4.06058E-6" "02327" "ANK1_000134" "g.41591499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41733981G>A" "" "likely benign" "" "0000611614" "0" "30" "8" "41543674" "41543674" "subst" "0" "01943" "ANK1_000137" "g.41543674T>C" "" "" "" "ANK1(NM_001142446.1):c.4509A>G (p.A1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41686156T>C" "" "likely benign" "" "0000652489" "1" "30" "8" "41542093" "41542093" "subst" "0.0229028" "03575" "ANK1_000027" "g.41542093G>A" "99/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous, no homozygous; {DB:CLININrs34265667}" "Germline" "" "rs34265667" "0" "" "" "g.41684575G>A" "" "likely benign" "" "0000652490" "1" "30" "8" "41543675" "41543675" "subst" "0.0228733" "03575" "ANK1_000029" "g.41543675G>A" "99/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous, no homozygous; {DB:CLININrs34664882}" "Germline" "" "rs34664882" "0" "" "" "g.41686157G>A" "" "likely benign" "" "0000652491" "1" "50" "8" "41573292" "41573292" "subst" "0.00010152" "03575" "ANK1_000138" "g.41573292C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs190256257}" "Germline" "" "rs190256257" "0" "" "" "g.41715774C>T" "" "VUS" "" "0000652492" "1" "30" "8" "41582031" "41582031" "subst" "0.0113901" "03575" "ANK1_000095" "g.41582031G>T" "18/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs61735313}" "Germline" "" "rs61735313" "0" "" "" "g.41724513G>T" "" "likely benign" "" "0000656092" "0" "50" "8" "41550372" "41550372" "subst" "8.55669E-5" "02325" "ANK1_000139" "g.41550372G>A" "" "" "" "ANK1(NM_001142446.2):c.3775C>T (p.R1259W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41692854G>A" "" "VUS" "" "0000666248" "3" "50" "8" "41563662" "41563662" "subst" "9.35469E-5" "00006" "ANK1_000140" "g.41563662C>T" "" "{PMID:Patni 2020:31857427}" "" "" "" "Germline" "" "rs150032875" "0" "" "" "g.41706144C>T" "" "VUS" "" "0000714465" "0" "70" "8" "41583276" "41583280" "del" "0" "01807" "ANK1_000141" "g.41583276_41583280del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41725758_41725762del" "" "likely pathogenic" "" "0000714466" "0" "90" "8" "41583286" "41583286" "dup" "0" "01807" "ANK1_000142" "g.41583286dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41725768dup" "" "pathogenic" "" "0000715040" "0" "70" "8" "41525835" "41525835" "subst" "0" "01807" "ANK1_000143" "g.41525835G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41668317G>A" "" "likely pathogenic" "" "0000721981" "0" "50" "8" "41518992" "41518992" "subst" "0" "01943" "ANK1_000144" "g.41518992T>A" "" "" "" "ANK1(NM_000037.3):c.5635A>T (p.K1879*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41661474T>A" "" "VUS" "" "0000721982" "0" "70" "8" "41552826" "41552826" "subst" "0" "02326" "ANK1_000145" "g.41552826T>G" "" "" "" "ANK1(NM_001142446.2):c.3107A>C (p.H1036P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41695308T>G" "" "likely pathogenic" "" "0000803638" "0" "50" "8" "41551521" "41551521" "subst" "2.4393E-5" "01943" "ANK1_000146" "g.41551521G>A" "" "" "" "ANK1(NM_001142446.1):c.3550C>T (p.R1184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41694003G>A" "" "VUS" "" "0000803639" "0" "50" "8" "41552742" "41552742" "subst" "2.43657E-5" "01943" "ANK1_000147" "g.41552742C>T" "" "" "" "ANK1(NM_001142446.1):c.3191G>A (p.R1064H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41695224C>T" "" "VUS" "" "0000803640" "0" "30" "8" "41561886" "41561886" "subst" "0.000958664" "01943" "ANK1_000148" "g.41561886C>T" "" "" "" "ANK1(NM_000037.4):c.2196+6G>A, ANK1(NM_001142446.1):c.2295+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41704368C>T" "" "likely benign" "" "0000803641" "0" "90" "8" "41584836" "41584836" "subst" "0" "02326" "ANK1_000149" "g.41584836G>A" "" "" "" "ANK1(NM_001142446.2):c.457C>T (p.Q153*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41727318G>A" "" "pathogenic" "" "0000851922" "0" "50" "8" "41548021" "41548021" "subst" "0.000264011" "01943" "ANK1_000153" "g.41548021G>A" "" "" "" "ANK1(NM_001142446.1):c.4078C>T (p.R1360W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690503G>A" "" "VUS" "" "0000851923" "0" "50" "8" "41561620" "41561620" "subst" "2.84403E-5" "01943" "ANK1_000155" "g.41561620C>T" "" "" "" "ANK1(NM_001142446.1):c.2333G>A (p.G778E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41704102C>T" "" "VUS" "" "0000861208" "0" "30" "8" "41522530" "41522530" "subst" "0.000126299" "01943" "ANK1_000150" "g.41522530G>A" "" "" "" "ANK1(NM_020478.4):c.12C>T (p.F4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41665012G>A" "" "likely benign" "" "0000861209" "0" "30" "8" "41529994" "41529994" "subst" "0.0040525" "01943" "ANK1_000151" "g.41529994G>A" "" "" "" "ANK1(NM_001142446.1):c.5097C>T (p.D1699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41672476G>A" "" "likely benign" "" "0000861210" "0" "30" "8" "41547751" "41547751" "subst" "0.000178693" "01943" "ANK1_000152" "g.41547751G>A" "" "" "" "ANK1(NM_001142446.1):c.4221C>T (p.C1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690233G>A" "" "likely benign" "" "0000861211" "0" "50" "8" "41554216" "41554216" "subst" "0.000213652" "01943" "ANK1_000154" "g.41554216C>T" "" "" "" "ANK1(NM_001142446.1):c.2836G>A (p.V946M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41696698C>T" "" "VUS" "" "0000888346" "0" "30" "8" "41547980" "41547980" "subst" "0.000150284" "02326" "ANK1_000156" "g.41547980G>A" "" "" "" "ANK1(NM_000037.4):c.3984+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690462G>A" "" "likely benign" "" "0000888347" "0" "90" "8" "41583465" "41583465" "subst" "0" "02326" "ANK1_000157" "g.41583465C>A" "" "" "" "ANK1(NM_000037.4):c.427-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41725947C>A" "" "pathogenic" "" "0000888348" "0" "90" "8" "41584785" "41584785" "subst" "0" "02326" "ANK1_000158" "g.41584785G>A" "" "" "" "ANK1(NM_000037.4):c.409C>T (p.Q137*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41727267G>A" "" "pathogenic" "" "0000917061" "0" "50" "8" "41559068" "41559068" "subst" "0" "04100" "ANK1_000159" "g.41559068C>T" "" "" "" "41702063G>A" "" "De novo" "" "" "0" "" "" "g.41701550C>T" "" "likely pathogenic" "ACMG" "0000917062" "0" "50" "8" "41530320" "41530320" "subst" "1.66158E-5" "04100" "ANK1_000160" "g.41530320T>C" "" "" "" "41672886A>G" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.41672802T>C" "" "VUS" "ACMG" "0000917063" "0" "70" "8" "41580680" "41580680" "subst" "0" "04100" "ANK1_000161" "g.41580680A>C" "" "" "" "41723557T>G" "" "De novo" "no" "" "0" "" "" "g.41723162A>C" "" "likely pathogenic" "ACMG" "0000924871" "0" "50" "8" "41573176" "41573176" "subst" "4.06517E-6" "02325" "ANK1_000162" "g.41573176C>T" "" "" "" "ANK1(NM_000037.4):c.1596G>A (p.M532I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41715658C>T" "" "VUS" "" "0000924872" "0" "50" "8" "41585500" "41585500" "subst" "0" "02326" "ANK1_000163" "g.41585500C>T" "" "" "" "ANK1(NM_000037.4):c.253G>A (p.A85T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41727982C>T" "" "VUS" "" "0000924873" "0" "50" "8" "41547849" "41547849" "subst" "0" "02325" "ANK1_000136" "g.41547849G>A" "" "" "" "ANK1(NM_001142446.1):c.103C>T (p.R35C), ANK1(NM_001142446.2):c.103C>T (p.R35C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41690331G>A" "" "VUS" "" "0000964992" "0" "90" "8" "41547849" "41547849" "subst" "0" "02325" "ANK1_000164" "g.41547849G>A" "" "" "" "ANK1(NM_000037.4):c.4000C>T (p.R1334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41690331G>A" "" "pathogenic" "" "0000964993" "0" "30" "8" "41550682" "41550682" "subst" "0.000170546" "02326" "ANK1_000165" "g.41550682T>G" "" "" "" "ANK1(NM_000037.4):c.3570A>C (p.G1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41693164T>G" "" "likely benign" "" "0000964994" "0" "90" "8" "41563660" "41563660" "subst" "0" "02325" "ANK1_000166" "g.41563660C>T" "" "" "" "ANK1(NM_000037.4):c.2097+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41706142C>T" "" "pathogenic" "" "0000971536" "0" "50" "8" "41573376" "41573376" "subst" "0" "03132" "ANK1_000168" "g.41573376C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.41715858C>T" "" "likely pathogenic (dominant)" "" "0000971537" "0" "50" "8" "41573376" "41573376" "subst" "0" "03132" "ANK1_000168" "g.41573376C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41715858C>T" "" "likely pathogenic (dominant)" "" "0000972105" "0" "90" "8" "41546059" "41546059" "subst" "0" "03779" "ANK1_000169" "g.41546059G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs750820522" "0" "" "" "" "" "pathogenic" "" "0000972106" "0" "30" "8" "41554011" "41554011" "subst" "0.000770944" "03779" "ANK1_000170" "g.41554011C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs35797405" "0" "" "" "" "" "likely benign" "" "0000978198" "0" "50" "8" "41519027" "41519027" "subst" "4.87741E-5" "01804" "ANK1_000171" "g.41519027G>A" "" "" "" "ANK1(NM_000037.4):c.5600C>T (p.(Ala1867Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978199" "0" "30" "8" "41546056" "41546056" "subst" "0.000304566" "01804" "ANK1_000172" "g.41546056A>G" "" "" "" "ANK1(NM_000037.4):c.4156T>C (p.(Tyr1386His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978200" "0" "30" "8" "41553871" "41553871" "subst" "6.1765E-5" "02326" "ANK1_000173" "g.41553871G>A" "" "" "" "ANK1(NM_000037.4):c.2960+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978201" "0" "90" "8" "41554038" "41554038" "subst" "0" "01804" "ANK1_000174" "g.41554038G>A" "" "" "" "ANK1(NM_000037.3):c.2803C>T (p.(Arg935*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978202" "0" "50" "8" "41573232" "41573232" "subst" "7.71611E-5" "01804" "ANK1_000175" "g.41573232C>A" "" "" "" "ANK1(NM_000037.4):c.1540G>T (p.(Gly514Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978203" "0" "50" "8" "41753896" "41753896" "subst" "0" "02325" "ANK1_000136" "g.41753896G>A" "" "" "" "ANK1(NM_001142446.1):c.103C>T (p.R35C), ANK1(NM_001142446.2):c.103C>T (p.R35C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989147" "0" "90" "8" "41543722" "41543723" "del" "0" "03779" "ANK1_000176" "g.41543722_41543723del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000997167" "0" "30" "8" "41529989" "41529989" "subst" "0" "01804" "ANK1_000177" "g.41529989G>A" "" "" "" "ANK1(NM_000037.3):c.4979C>T (p.(Thr1660Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997168" "0" "50" "8" "41547759" "41547759" "subst" "4.06088E-6" "01804" "ANK1_000178" "g.41547759G>A" "" "" "" "ANK1(NM_000037.3):c.4090C>T (p.(Pro1364Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997169" "0" "10" "8" "41561886" "41561886" "subst" "0.000958664" "02326" "ANK1_000148" "g.41561886C>T" "" "" "" "ANK1(NM_000037.4):c.2196+6G>A, ANK1(NM_001142446.1):c.2295+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997170" "0" "50" "8" "41574566" "41574566" "subst" "0" "01804" "ANK1_000179" "g.41574566C>G" "" "" "" "ANK1(NM_000037.3):c.1309G>C (p.(Val437Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997171" "0" "30" "8" "41575134" "41575134" "subst" "9.42444E-5" "02326" "ANK1_000180" "g.41575134G>A" "" "" "" "ANK1(NM_000037.4):c.1293C>T (p.N431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029873" "0" "50" "8" "41542107" "41542107" "subst" "3.66187E-5" "03779" "ANK1_000181" "g.41542107G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs373965109" "0" "" "" "" "" "VUS" "" "0001030009" "0" "90" "8" "41580711" "41580711" "subst" "0" "03779" "ANK1_000182" "g.41580711G>A" "" "" "" "" "" "Unknown" "" "rs1829712320" "0" "" "" "" "" "pathogenic" "" "0001036957" "0" "50" "8" "41530007" "41530007" "subst" "0" "01804" "ANK1_000183" "g.41530007T>C" "" "" "" "ANK1(NM_000037.4):c.4961A>G (p.(Lys1654Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036958" "0" "50" "8" "41530181" "41530181" "subst" "5.28417E-5" "01804" "ANK1_000184" "g.41530181G>C" "" "" "" "ANK1(NM_000037.4):c.4787C>G (p.(Thr1596Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036959" "0" "50" "8" "41530262" "41530279" "del" "0" "01804" "ANK1_000185" "g.41530262_41530279del" "" "" "" "ANK1(NM_000037.4):c.4694_4711del (p.(Asp1565_Ser1570del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036960" "0" "30" "8" "41550161" "41550161" "subst" "4.06755E-6" "01804" "ANK1_000186" "g.41550161G>A" "" "" "" "ANK1(NM_000037.4):c.3858+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036961" "0" "50" "8" "41550261" "41550261" "subst" "0.000288374" "01804" "ANK1_000187" "g.41550261G>A" "" "" "" "ANK1(NM_000037.4):c.3763C>T (p.(Arg1255Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036962" "0" "10" "8" "41552213" "41552213" "subst" "0.00348477" "01804" "ANK1_000188" "g.41552213G>A" "" "" "" "ANK1(NM_000037.4):c.3224C>T (p.(Thr1075Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001036963" "0" "50" "8" "41556973" "41556973" "subst" "0" "01804" "ANK1_000189" "g.41556973T>C" "" "" "" "ANK1(NM_000037.4):c.2555A>G (p.(Gln852Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036964" "0" "50" "8" "41571745" "41571745" "subst" "4.05884E-5" "01804" "ANK1_000190" "g.41571745C>T" "" "" "" "ANK1(NM_000037.4):c.1729G>A (p.(Val577Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036965" "0" "30" "8" "41574538" "41574538" "subst" "0.000548174" "01804" "ANK1_000191" "g.41574538C>G" "" "" "" "ANK1(NM_000037.4):c.1337G>C (p.(Arg446Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047566" "21" "70" "8" "41543706" "41543721" "del" "0" "03544" "ANK1_000192" "g.41543706_41543721del" "" "" "" "" "inherited from affected mother with hereditary spherocytosis" "Germline" "yes" "" "0" "" "" "g.41686188_41686203del" "" "likely pathogenic" "ACMG" ## 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 ANK1 ## Count = 191 "{{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}}" "0000148367" "00025918" "70" "1702" "-2" "1702" "-2" "c.1702-2A>C" "r.spl" "p.?" "" "0000248228" "00025918" "10" "5479" "-3" "5479" "-3" "c.5479-3T>C" "r.spl?" "p.?" "" "0000248229" "00025918" "10" "5096" "16" "5096" "16" "c.5096+16T>C" "r.(=)" "p.(=)" "" "0000250931" "00025918" "10" "5479" "-3" "5479" "-3" "c.5479-3T>C" "r.spl?" "p.?" "" "0000250932" "00025918" "10" "5096" "16" "5096" "16" "c.5096+16T>C" "r.(=)" "p.(=)" "" "0000251416" "00025918" "10" "5881" "0" "5881" "0" "c.*238T>C" "r.(=)" "p.(=)" "" "0000251417" "00025918" "10" "4391" "-142" "4391" "-142" "c.4391-142T>C" "r.(=)" "p.(=)" "" "0000251418" "00025918" "10" "4258" "161" "4258" "161" "c.4258+161T>C" "r.(=)" "p.(=)" "" "0000251419" "00025918" "10" "2559" "-101" "2559" "-101" "c.2559-101T>C" "r.(=)" "p.(=)" "" "0000251420" "00025918" "10" "2462" "-35" "2462" "-35" "c.2462-35T>C" "r.(=)" "p.(=)" "" "0000251421" "00025918" "10" "2462" "-971" "2462" "-971" "c.2462-971T>C" "r.(=)" "p.(=)" "" "0000251422" "00025918" "10" "2389" "-45" "2389" "-45" "c.2389-45del" "r.(=)" "p.(=)" "" "0000251423" "00025918" "10" "1702" "-191" "1702" "-191" "c.1702-191T>A" "r.(=)" "p.(=)" "" "0000251424" "00025918" "10" "1306" "-167" "1306" "-167" "c.1306-167T>G" "r.(=)" "p.(=)" "" "0000251425" "00025918" "10" "1108" "-28" "1108" "-28" "c.1108-28del" "r.(=)" "p.(=)" "" "0000252394" "00025918" "70" "344" "0" "344" "0" "c.344T>C" "r.(?)" "p.(Leu115Pro)" "" "0000252408" "00025918" "70" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Leu82Pro)" "" "0000252721" "00025918" "50" "971" "0" "971" "0" "c.971T>C" "r.(?)" "p.(Leu324Pro)" "" "0000259080" "00025918" "10" "2913" "0" "2913" "0" "c.2913G>C" "r.(?)" "p.(Leu971=)" "" "0000259081" "00025918" "10" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Asn105=)" "" "0000259082" "00025918" "10" "5265" "0" "5265" "0" "c.5265G>A" "r.(?)" "p.(Val1755=)" "" "0000259646" "00025918" "50" "3229" "0" "3229" "0" "c.3229G>C" "r.(?)" "p.(Gly1077Arg)" "" "0000260857" "00025918" "10" "5680" "-22" "5680" "-22" "c.*37-22C>T" "r.(=)" "p.(=)" "" "0000260858" "00025918" "10" "909" "36" "909" "36" "c.909+36A>G" "r.(=)" "p.(=)" "" "0000260859" "00025918" "10" "909" "7" "909" "7" "c.909+7A>G" "r.(=)" "p.(=)" "" "0000260860" "00025918" "10" "1107" "58" "1107" "58" "c.1107+58G>C" "r.(=)" "p.(=)" "" "0000260861" "00025918" "10" "1206" "185" "1206" "185" "c.1206+185C>T" "r.(=)" "p.(=)" "" "0000260862" "00025918" "10" "-98787" "0" "-98787" "0" "c.-98787G>C" "r.(?)" "p.(=)" "" "0000260863" "00025918" "10" "130" "-178" "130" "-178" "c.130-178G>A" "r.(=)" "p.(=)" "" "0000260864" "00025918" "10" "130" "-63" "130" "-63" "c.130-63C>A" "r.(=)" "p.(=)" "" "0000260865" "00025918" "10" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Pro440=)" "" "0000260866" "00025918" "30" "1387" "0" "1387" "0" "c.1387G>A" "r.(?)" "p.(Val463Ile)" "" "0000260867" "00025918" "10" "1404" "39" "1404" "39" "c.1404+39G>A" "r.(=)" "p.(=)" "" "0000260868" "00025918" "10" "1405" "-121" "1405" "-121" "c.1405-121C>T" "r.(=)" "p.(=)" "" "0000260869" "00025918" "10" "1404" "181" "1404" "181" "c.1404+181G>A" "r.(=)" "p.(=)" "" "0000260870" "00025918" "10" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Ala502=)" "" "0000260871" "00025918" "10" "1702" "-54" "1702" "-54" "c.1702-54G>C" "r.(=)" "p.(=)" "" "0000260873" "00025918" "10" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Val61=)" "" "0000260874" "00025918" "10" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619His)" "" "0000260875" "00025918" "10" "1782" "0" "1782" "0" "c.1782C>A" "r.(?)" "p.(Ser594=)" "" "0000260876" "00025918" "10" "1999" "-32" "1999" "-32" "c.1999-32A>C" "r.(=)" "p.(=)" "" "0000260877" "00025918" "10" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(Gly691=)" "" "0000260878" "00025918" "10" "2098" "-91" "2098" "-91" "c.2098-91G>A" "r.(=)" "p.(=)" "" "0000260879" "00025918" "10" "129" "125" "129" "125" "c.129+125C>T" "r.(=)" "p.(=)" "" "0000260880" "00025918" "10" "229" "-53" "229" "-53" "c.229-53C>T" "r.(=)" "p.(=)" "" "0000260881" "00025918" "10" "229" "-55" "229" "-55" "c.229-55C>T" "r.(=)" "p.(=)" "" "0000260882" "00025918" "10" "130" "-56" "130" "-56" "c.130-56G>A" "r.(=)" "p.(=)" "" "0000260883" "00025918" "10" "2295" "113" "2295" "113" "c.2295+113G>T" "r.(=)" "p.(=)" "" "0000260884" "00025918" "10" "2296" "-35" "2296" "-35" "c.2296-35C>A" "r.(=)" "p.(=)" "" "0000260885" "00025918" "10" "2388" "100" "2388" "100" "c.2388+100G>C" "r.(=)" "p.(=)" "" "0000260886" "00025918" "10" "2403" "0" "2403" "0" "c.2403G>A" "r.(?)" "p.(Lys801=)" "" "0000260887" "00025918" "10" "2461" "114" "2461" "114" "c.2461+114A>G" "r.(=)" "p.(=)" "" "0000260888" "00025918" "10" "2461" "170" "2461" "170" "c.2461+170A>C" "r.(=)" "p.(=)" "" "0000260889" "00025918" "10" "2461" "973" "2461" "973" "c.2461+973G>T" "r.(=)" "p.(=)" "" "0000260890" "00025918" "10" "2462" "-30" "2462" "-30" "c.2462-30C>T" "r.(=)" "p.(=)" "" "0000260891" "00025918" "10" "2558" "84" "2558" "84" "c.2558+84A>G" "r.(=)" "p.(=)" "" "0000260892" "00025918" "10" "2559" "-97" "2559" "-97" "c.2559-97G>A" "r.(=)" "p.(=)" "" "0000260893" "00025918" "10" "2462" "-55" "2462" "-55" "c.2462-55A>G" "r.(=)" "p.(=)" "" "0000260894" "00025918" "90" "2625" "0" "2625" "0" "c.2625del" "r.(?)" "p.(Glu876SerfsTer40)" "" "0000260895" "00025918" "10" "2558" "128" "2558" "128" "c.2558+128G>A" "r.(=)" "p.(=)" "" "0000260896" "00025918" "10" "2637" "88" "2637" "88" "c.2637+88A>G" "r.(=)" "p.(=)" "" "0000260897" "00025918" "10" "28" "-151" "28" "-151" "c.28-151C>A" "r.(=)" "p.(=)" "" "0000260898" "00025918" "10" "2960" "46" "2960" "46" "c.2960+46C>T" "r.(=)" "p.(=)" "" "0000260899" "00025918" "10" "2913" "0" "2913" "0" "c.2913G>C" "r.(?)" "p.(Leu971=)" "" "0000260900" "00025918" "10" "3045" "0" "3045" "0" "c.3045C>T" "r.(?)" "p.(Ser1015=)" "" "0000260901" "00025918" "10" "228" "215" "228" "215" "c.228+215C>T" "r.(=)" "p.(=)" "" "0000260902" "00025918" "10" "229" "-47" "229" "-47" "c.229-47G>A" "r.(=)" "p.(=)" "" "0000260903" "00025918" "10" "3327" "64" "3327" "64" "c.3327+64A>G" "r.(=)" "p.(=)" "" "0000260904" "00025918" "10" "3328" "-100" "3328" "-100" "c.3328-100C>T" "r.(=)" "p.(=)" "" "0000260905" "00025918" "10" "3533" "-61" "3533" "-61" "c.3533-61A>G" "r.(=)" "p.(=)" "" "0000260906" "00025918" "10" "3533" "-68" "3533" "-68" "c.3533-68G>A" "r.(=)" "p.(=)" "" "0000260907" "00025918" "10" "3629" "113" "3629" "113" "c.3629+113G>A" "r.(=)" "p.(=)" "" "0000260908" "00025918" "10" "3630" "-73" "3630" "-73" "c.3630-73del" "r.(=)" "p.(=)" "" "0000260909" "00025918" "10" "3859" "-36" "3859" "-36" "c.3859-36C>G" "r.(=)" "p.(=)" "" "0000260910" "00025918" "10" "3859" "-92" "3859" "-92" "c.3859-92G>A" "r.(=)" "p.(=)" "" "0000260911" "00025918" "10" "3973" "0" "3973" "0" "c.3973A>G" "r.(?)" "p.(Met1325Val)" "" "0000260912" "00025918" "90" "4105" "-1" "4105" "-1" "c.4105-1G>A" "r.spl?" "p.?" "" "0000260913" "00025918" "50" "3985" "0" "3985" "0" "c.3985G>T" "r.(?)" "p.(Val1329Leu)" "" "0000260914" "00025918" "10" "4008" "0" "4008" "0" "c.4008G>A" "r.(?)" "p.(Pro1336=)" "" "0000260915" "00025918" "10" "315" "0" "315" "0" "c.315C>T" "r.(?)" "p.(Asn105=)" "" "0000260916" "00025918" "10" "4101" "0" "4101" "0" "c.4101C>T" "r.(?)" "p.(Ala1367=)" "" "0000260917" "00025918" "10" "4104" "62" "4104" "62" "c.4104+62A>G" "r.(=)" "p.(=)" "" "0000260918" "00025918" "10" "4104" "85" "4104" "85" "c.4104+85C>T" "r.(=)" "p.(=)" "" "0000260919" "00025918" "10" "4385" "0" "4385" "0" "c.4385C>T" "r.(?)" "p.(Ala1462Val)" "" "0000260920" "00025918" "10" "450" "0" "450" "0" "c.450A>G" "r.(?)" "p.(Val150=)" "" "0000260921" "00025918" "10" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Arg1502=)" "" "0000260922" "00025918" "10" "4537" "84" "4537" "84" "c.4537+84G>A" "r.(=)" "p.(=)" "" "0000260923" "00025918" "10" "4538" "-52" "4538" "-52" "c.4538-52G>C" "r.(=)" "p.(=)" "" "0000260924" "00025918" "90" "5044" "0" "5044" "0" "c.5044C>T" "r.(?)" "p.(Arg1682Ter)" "" "0000260926" "00025918" "10" "5265" "0" "5265" "0" "c.5265G>A" "r.(?)" "p.(Val1755=)" "" "0000260927" "00025918" "10" "5395" "-1147" "5395" "-1147" "c.5395-1147C>G" "r.(=)" "p.(=)" "" "0000260928" "00025918" "10" "5395" "-1286" "5395" "-1286" "c.5395-1286C>T" "r.(=)" "p.(=)" "" "0000260929" "00025918" "10" "5479" "-45" "5479" "-45" "c.5479-45G>A" "r.(=)" "p.(=)" "" "0000260930" "00025918" "10" "5544" "91" "5544" "91" "c.5544+91C>T" "r.(=)" "p.(=)" "" "0000260931" "00025918" "10" "5544" "146" "5544" "146" "c.5544+146A>G" "r.(=)" "p.(=)" "" "0000260932" "00025918" "10" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Pro199=)" "" "0000260933" "00025918" "10" "612" "64" "612" "64" "c.612+64G>A" "r.(=)" "p.(=)" "" "0000260934" "00025918" "10" "612" "77" "612" "77" "c.612+77C>T" "r.(=)" "p.(=)" "" "0000260935" "00025918" "30" "654" "0" "654" "0" "c.654C>A" "r.(?)" "p.(Asn218Lys)" "" "0000260936" "00025918" "10" "711" "20" "711" "20" "c.711+20G>A" "r.(=)" "p.(=)" "" "0000260937" "00025918" "10" "712" "-29" "712" "-29" "c.712-29G>T" "r.(=)" "p.(=)" "" "0000260938" "00025918" "10" "810" "147" "810" "147" "c.810+147C>T" "r.(=)" "p.(=)" "" "0000260939" "00025918" "10" "909" "178" "909" "178" "c.909+178A>G" "r.(=)" "p.(=)" "" "0000260940" "00025918" "10" "910" "-119" "910" "-119" "c.910-119A>G" "r.(=)" "p.(=)" "" "0000260941" "00025918" "10" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Leu292=)" "" "0000262448" "00025918" "50" "-98840" "0" "-98840" "0" "c.-98840C>T" "r.(?)" "p.(=)" "" "0000262449" "00025918" "10" "5395" "-1162" "5395" "-1162" "c.5395-1162C>A" "r.(=)" "p.(=)" "" "0000262450" "00025918" "30" "3829" "0" "3829" "0" "c.3829G>A" "r.(?)" "p.(Val1277Met)" "" "0000262451" "00025918" "10" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Leu225=)" "" "0000332110" "00025918" "50" "3220" "0" "3220" "0" "c.3220G>A" "r.(?)" "p.(Asp1074Asn)" "" "0000344527" "00025918" "90" "3814" "0" "3814" "0" "c.3814C>T" "r.(?)" "p.(Gln1272Ter)" "" "0000534775" "00025918" "30" "5097" "-34" "5097" "-34" "c.5097-34C>T" "r.(=)" "p.(=)" "" "0000534776" "00025918" "10" "5096" "83" "5096" "83" "c.5096+83G>A" "r.(=)" "p.(=)" "" "0000534777" "00025918" "90" "5078" "0" "5079" "0" "c.5078_5079insTCAG" "r.(?)" "p.(Glu1694GlnfsTer48)" "" "0000534778" "00025918" "90" "3932" "0" "3932" "0" "c.3932G>A" "r.(?)" "p.(Arg1311Gln)" "" "0000534779" "00025918" "10" "3859" "-195" "3859" "-195" "c.3859-195G>A" "r.(=)" "p.(=)" "" "0000534780" "00025918" "90" "3754" "0" "3754" "0" "c.3754C>T" "r.(?)" "p.(Arg1252Ter)" "" "0000534781" "00025918" "30" "2996" "0" "2996" "0" "c.2996A>C" "r.(?)" "p.(His999Pro)" "" "0000534782" "00025918" "30" "2903" "0" "2903" "0" "c.2903A>C" "r.(?)" "p.(Glu968Ala)" "" "0000534783" "00025918" "10" "2462" "-83" "2462" "-83" "c.2462-83C>T" "r.(=)" "p.(=)" "" "0000534784" "00025918" "10" "2389" "-144" "2389" "-144" "c.2389-144G>C" "r.(=)" "p.(=)" "" "0000534785" "00025918" "10" "2349" "0" "2349" "0" "c.2349C>T" "r.(?)" "p.(Thr783=)" "" "0000534786" "00025918" "10" "2349" "0" "2349" "0" "c.2349C>T" "r.(?)" "p.(Thr783=)" "" "0000534787" "00025918" "10" "2295" "176" "2295" "176" "c.2295+176C>T" "r.(=)" "p.(=)" "" "0000534788" "00025918" "10" "1801" "-146" "1801" "-143" "c.1801-146_1801-143dup" "r.(=)" "p.(=)" "" "0000534789" "00025918" "90" "1495" "0" "1504" "0" "c.1495_1504del" "r.(?)" "p.(Ala499ProfsTer31)" "" "0000534790" "00025918" "70" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Pro114Leu)" "" "0000534791" "00025918" "10" "327" "42" "327" "42" "c.327+42A>C" "r.(=)" "p.(=)" "" "0000534792" "00025918" "30" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Met)" "" "0000611614" "00025918" "30" "4386" "0" "4386" "0" "c.4386A>G" "r.(?)" "p.(Ala1462=)" "" "0000652489" "00025918" "30" "4506" "0" "4506" "0" "c.4506C>T" "r.(=)" "p.(=)" "" "0000652490" "00025918" "30" "4385" "0" "4385" "0" "c.4385C>T" "r.(?)" "p.(Ala1462Val)" "" "0000652491" "00025918" "50" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Ala494Thr)" "" "0000652492" "00025918" "30" "654" "0" "654" "0" "c.654C>A" "r.(?)" "p.(Asn218Lys)" "" "0000656092" "00025918" "50" "3652" "0" "3652" "0" "c.3652C>T" "r.(?)" "p.(Arg1218Trp)" "" "0000666248" "00025918" "00" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Arg699Gln)" "" "0000714465" "00025918" "00" "612" "2" "612" "6" "c.612+2_612+6del" "r.spl" "p.(?)" "" "0000714466" "00025918" "00" "607" "0" "607" "0" "c.607dup" "r.(?)" "p.(Ser203PhefsTer153)" "" "0000715040" "00025918" "00" "5344" "0" "5344" "0" "c.5344C>T" "r.(?)" "p.(Gln1782Ter)" "" "0000721981" "00025918" "50" "5635" "0" "5635" "0" "c.5635A>T" "r.(?)" "p.(Lys1879*)" "" "0000721982" "00025918" "70" "2984" "0" "2984" "0" "c.2984A>C" "r.(?)" "p.(His995Pro)" "" "0000803638" "00025918" "50" "3427" "0" "3427" "0" "c.3427C>T" "r.(?)" "p.(Arg1143Cys)" "" "0000803639" "00025918" "50" "3068" "0" "3068" "0" "c.3068G>A" "r.(?)" "p.(Arg1023His)" "" "0000803640" "00025918" "30" "2196" "6" "2196" "6" "c.2196+6G>A" "r.(=)" "p.(=)" "" "0000803641" "00025918" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Gln120*)" "" "0000851922" "00025918" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Arg1319Trp)" "" "0000851923" "00025918" "50" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Gly745Glu)" "" "0000861208" "00025918" "30" "5395" "-1270" "5395" "-1270" "c.5395-1270C>T" "r.(=)" "p.(=)" "" "0000861209" "00025918" "30" "4974" "0" "4974" "0" "c.4974C>T" "r.(?)" "p.(Asp1658=)" "" "0000861210" "00025918" "30" "4098" "0" "4098" "0" "c.4098C>T" "r.(?)" "p.(Cys1366=)" "" "0000861211" "00025918" "50" "2713" "0" "2713" "0" "c.2713G>A" "r.(?)" "p.(Val905Met)" "" "0000888346" "00025918" "30" "3984" "12" "3984" "12" "c.3984+12C>T" "r.(=)" "p.(=)" "" "0000888347" "00025918" "90" "427" "-1" "427" "-1" "c.427-1G>T" "r.spl?" "p.?" "" "0000888348" "00025918" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Gln137*)" "" "0000917061" "00025918" "00" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Gly821Arg)" "22" "0000917062" "00025918" "00" "4648" "0" "4648" "0" "c.4648A>G" "r.(?)" "p.(Ile1550Val)" "38" "0000917063" "00025918" "00" "872" "0" "872" "0" "c.872T>G" "r.(?)" "p.(Leu291Arg)" "9" "0000924871" "00025918" "50" "1596" "0" "1596" "0" "c.1596G>A" "r.(?)" "p.(Met532Ile)" "" "0000924872" "00025918" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Ala85Thr)" "" "0000924873" "00025918" "00" "4000" "0" "4000" "0" "c.4000C>T" "r.(?)" "p.(=)" "" "0000964992" "00025918" "90" "4000" "0" "4000" "0" "c.4000C>T" "r.(?)" "p.(Arg1334*)" "" "0000964993" "00025918" "30" "3570" "0" "3570" "0" "c.3570A>C" "r.(?)" "p.(=)" "" "0000964994" "00025918" "90" "2097" "1" "2097" "1" "c.2097+1G>A" "r.spl?" "p.?" "" "0000971536" "00025918" "00" "1405" "-9" "1405" "-9" "c.1405-9G>A" "r.spl?" "p.?" "" "0000971537" "00025918" "00" "1405" "-9" "1405" "-9" "c.1405-9G>A" "r.spl?" "p.?" "" "0000972105" "00025918" "90" "4153" "0" "4153" "0" "c.4153C>T" "r.(?)" "p.(Arg1385Ter)" "" "0000972106" "00025918" "30" "2830" "0" "2830" "0" "c.2830G>A" "r.(?)" "p.(Ala944Thr)" "" "0000978198" "00025918" "50" "5600" "0" "5600" "0" "c.5600C>T" "r.(?)" "p.(Ala1867Val)" "" "0000978199" "00025918" "30" "4156" "0" "4156" "0" "c.4156T>C" "r.(?)" "p.(Tyr1386His)" "" "0000978200" "00025918" "30" "2960" "10" "2960" "10" "c.2960+10C>T" "r.(=)" "p.(=)" "" "0000978201" "00025918" "90" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(Arg935*)" "" "0000978202" "00025918" "50" "1540" "0" "1540" "0" "c.1540G>T" "r.(?)" "p.(Gly514Cys)" "" "0000978203" "00025918" "50" "-98840" "0" "-98840" "0" "c.-98840C>T" "r.(?)" "p.(=)" "" "0000989147" "00025918" "90" "4339" "0" "4340" "0" "c.4339_4340del" "r.(?)" "p.(Ser1447CysfsTer11)" "" "0000997167" "00025918" "30" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Thr1660Ile)" "" "0000997168" "00025918" "50" "4090" "0" "4090" "0" "c.4090C>T" "r.(?)" "p.(Pro1364Ser)" "" "0000997169" "00025918" "10" "2196" "6" "2196" "6" "c.2196+6G>A" "r.(=)" "p.(=)" "" "0000997170" "00025918" "50" "1309" "0" "1309" "0" "c.1309G>C" "r.(?)" "p.(Val437Leu)" "" "0000997171" "00025918" "30" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(=)" "" "0001029873" "00025918" "50" "4492" "0" "4492" "0" "c.4492C>T" "r.(?)" "p.(Arg1498Trp)" "" "0001030009" "00025918" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Arg281Ter)" "" "0001036957" "00025918" "50" "4961" "0" "4961" "0" "c.4961A>G" "r.(?)" "p.(Lys1654Arg)" "" "0001036958" "00025918" "50" "4787" "0" "4787" "0" "c.4787C>G" "r.(?)" "p.(Thr1596Arg)" "" "0001036959" "00025918" "50" "4694" "0" "4711" "0" "c.4694_4711del" "r.(?)" "p.(Asp1565_Ser1570del)" "" "0001036960" "00025918" "30" "3858" "5" "3858" "5" "c.3858+5C>T" "r.spl?" "p.?" "" "0001036961" "00025918" "50" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Arg1255Cys)" "" "0001036962" "00025918" "10" "3224" "0" "3224" "0" "c.3224C>T" "r.(?)" "p.(Thr1075Ile)" "" "0001036963" "00025918" "50" "2555" "0" "2555" "0" "c.2555A>G" "r.(?)" "p.(Gln852Arg)" "" "0001036964" "00025918" "50" "1729" "0" "1729" "0" "c.1729G>A" "r.(?)" "p.(Val577Ile)" "" "0001036965" "00025918" "30" "1337" "0" "1337" "0" "c.1337G>C" "r.(?)" "p.(Arg446Thr)" "" "0001047566" "00025918" "70" "4340" "0" "4355" "0" "c.4340_4355del" "r.(4340_4355del)" "p.(Ser1447Thrfs*29)" "36" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000295800" "0000652489" "0000295801" "0000652490" "0000295802" "0000652491" "0000295803" "0000652492" "0000302886" "0000666248" "0000330040" "0000714465" "0000330040" "0000714466" "0000330444" "0000715040" "0000431774" "0000917061" "0000431775" "0000917062" "0000431776" "0000917063" "0000449949" "0000971536" "0000449950" "0000971537" "0000468085" "0001047566"