### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANKRD26) # 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}}" "ANKRD26" "ankyrin repeat domain 26" "10" "p12.1" "unknown" "LRG_605" "UD_132319307278" "" "https://www.LOVD.nl/ANKRD26" "" "1" "29186" "22852" "610855" "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/ANKRD26_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-17 14:32:17" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002530" "ANKRD26" "ankyrin repeat domain 26" "001" "NM_014915.2" "" "NP_055730.2" "" "" "" "-172" "6607" "5133" "27389427" "27293045" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "01579" "THC2" "thrombocytopenia, type 2 (THC-2)" "AD" "188000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05773" "THC" "thrombocytopenia (THC)" "" "" "" "" "" "00006" "2020-06-14 16:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ANKRD26" "01579" "ANKRD26" "05773" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00332334" "" "" "" "1" "" "00006" "{PMID:Al Daama 2013:23869080}" "4-generation family, 10 affected (6F, 4M)" "F;M" "" "Saudi Arabia" "" "0" "" "" "" "family" "00332335" "" "" "" "19" "" "00006" "{PMID:Punzo 2010:20626622}, {PMID:Pippucci 2011:21211618}" "4-generation family, 19 affected (9F, 10M)" "F;M" "no" "Italy" "" "0" "" "" "" "FamR/family" "00332337" "" "" "" "9" "" "00006" "{PMID:Pippucci 2011:21211618}" "4-generation family, 9 affected (4F, 5M)" "F;M" "no" "Italy" "" "0" "" "" "" "Fam1" "00332338" "" "" "" "8" "" "00006" "{PMID:Pippucci 2011:21211618}" "4-generation family, 8 affected (6F, 2M)" "F;M" "no" "Italy" "" "0" "" "" "" "Fam2" "00332339" "" "" "" "3" "" "00006" "{PMID:Pippucci 2011:21211618}" "3-generation family, 3 affected (F, 2M)" "F;M" "no" "Italy" "" "0" "" "" "" "Fam3" "00332340" "" "" "" "3" "" "00006" "{PMID:Pippucci 2011:21211618}" "generation family, 3 affected" "" "no" "Italy" "" "0" "" "" "" "Fam5" "00332341" "" "" "" "2" "" "00006" "{PMID:Pippucci 2011:21211618}" "generation family, 2 affected" "" "no" "Italy" "" "0" "" "" "" "Fam6" "00332342" "" "" "" "2" "" "00006" "{PMID:Pippucci 2011:21211618}" "generation family, 2 affected" "" "no" "Italy" "" "0" "" "" "" "Fam9" "00332343" "" "" "" "3" "" "00006" "{PMID:Pippucci 2011:21211618}" "generation family, 3 affected" "" "no" "Italy" "" "0" "" "" "" "Fam10" "00332344" "" "" "" "2" "" "00006" "{PMID:Pippucci 2011:21211618}" "generation family, 2 affected" "" "no" "Argentina" "" "0" "" "" "" "Fam12" "00332345" "" "" "" "1" "" "00006" "{PMID:Pippucci 2011:21211618}" "" "" "" "Italy" "" "0" "" "" "" "control" "00332346" "" "" "" "15" "" "00006" "{PMID:Drachman 2000:10891439}, {PMID:Pippucci 2011:21211618}" "large multi-generation family, 15 affected (10F, 5M)" "F;M" "no" "United States" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00332334" "05773" "00332335" "05773" "00332337" "05773" "00332338" "05773" "00332339" "05773" "00332340" "05773" "00332341" "05773" "00332342" "05773" "00332343" "05773" "00332344" "05773" "00332345" "00000" "00332346" "05773" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01579, 05773 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000250521" "05773" "00332334" "00006" "Familial, autosomal dominant" "" "see paper; ..., thrombocytopenia" "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250522" "05773" "00332335" "00006" "Familial, autosomal dominant" "" "see paper; ...m" "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250524" "05773" "00332337" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250525" "05773" "00332338" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250526" "05773" "00332339" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250527" "05773" "00332340" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250528" "05773" "00332341" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250529" "05773" "00332342" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250530" "05773" "00332343" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250531" "05773" "00332344" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" "0000250532" "05773" "00332346" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "THC2" "thrombocytopenia" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000333555" "00332334" "1" "00006" "00006" "2021-02-17 14:43:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333558" "00332335" "1" "00006" "00006" "2021-02-17 15:41:59" "" "" "SEQ" "DNA" "" "30 genes candidate region" "0000333559" "00332337" "1" "00006" "00006" "2021-02-17 15:54:56" "" "" "arraySNP;SEQ" "DNA" "" "" "0000333560" "00332338" "1" "00006" "00006" "2021-02-17 15:54:56" "" "" "arraySNP;SEQ" "DNA" "" "" "0000333561" "00332339" "1" "00006" "00006" "2021-02-17 15:54:56" "" "" "arraySNP;SEQ" "DNA" "" "" "0000333562" "00332340" "1" "00006" "00006" "2021-02-17 15:54:56" "00006" "2021-02-17 16:19:58" "SEQ" "DNA" "" "" "0000333563" "00332341" "1" "00006" "00006" "2021-02-17 16:22:15" "" "" "SEQ" "DNA" "" "" "0000333564" "00332342" "1" "00006" "00006" "2021-02-17 16:23:35" "" "" "SEQ" "DNA" "" "" "0000333565" "00332343" "1" "00006" "00006" "2021-02-17 16:24:47" "" "" "SEQ" "DNA" "" "" "0000333566" "00332344" "1" "00006" "00006" "2021-02-17 16:25:46" "" "" "SEQ" "DNA" "" "" "0000333567" "00332345" "1" "00006" "00006" "2021-02-17 16:29:28" "" "" "SEQ" "DNA" "" "" "0000333569" "00332346" "1" "00006" "00006" "2021-02-17 16:46:14" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000333558" "ANKRD26" "0000333559" "ANKRD26" "0000333560" "ANKRD26" "0000333561" "ANKRD26" "0000333562" "ANKRD26" "0000333563" "ANKRD26" "0000333564" "ANKRD26" "0000333565" "ANKRD26" "0000333566" "ANKRD26" "0000333567" "ANKRD26" "0000333569" "ANKRD26" ## 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 = 89 "{{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}}" "0000251474" "0" "10" "10" "27349268" "27349268" "subst" "0.0186949" "02326" "ANKRD26_000006" "g.27349268A>G" "" "" "" "ANKRD26(NM_001256053.1):c.1564+6T>C (p.(=)), ANKRD26(NM_014915.2):c.1564+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27060339A>G" "" "benign" "" "0000252186" "0" "30" "10" "27333133" "27333133" "del" "0" "02326" "ANKRD26_000004" "g.27333133del" "" "" "" "ANKRD26(NM_014915.2):c.1986-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27044204del" "" "likely benign" "" "0000254500" "0" "30" "10" "27306492" "27306492" "subst" "0.00425511" "01943" "ANKRD26_000012" "g.27306492A>G" "" "" "" "ANKRD26(NM_001256053.1):c.4442T>C (p.(Ile1481Thr)), ANKRD26(NM_014915.2):c.4445T>C (p.I1482T), ANKRD26(NM_014915.3):c.4445T>C (p.I1482T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27017563A>G" "" "likely benign" "" "0000259088" "0" "10" "10" "27326999" "27326999" "subst" "0" "02325" "ANKRD26_000001" "g.27326999T>C" "" "" "" "ANKRD26(NM_014915.3):c.2376-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27038070T>C" "" "benign" "" "0000259089" "0" "10" "10" "27389197" "27389197" "subst" "0.898971" "02325" "ANKRD26_000010" "g.27389197T>C" "" "" "" "ANKRD26(NM_014915.2):c.59A>G (p.Q20R), ANKRD26(NM_014915.3):c.59A>G (p.Q20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27100268T>C" "" "benign" "" "0000260988" "0" "10" "10" "27356071" "27356071" "subst" "0.0315801" "02326" "ANKRD26_000008" "g.27356071T>C" "" "" "" "ANKRD26(NM_014915.2):c.1207+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27067142T>C" "" "benign" "" "0000260989" "0" "10" "10" "27335399" "27335399" "subst" "0.00617991" "02326" "ANKRD26_000005" "g.27335399C>T" "" "" "" "ANKRD26(NM_014915.2):c.1868G>A (p.R623Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27046470C>T" "" "benign" "" "0000260990" "0" "70" "10" "27366557" "27366557" "subst" "4.06851E-6" "02326" "ANKRD26_000009" "g.27366557C>T" "" "" "" "ANKRD26(NM_014915.2):c.874+5G>A, ANKRD26(NM_014915.3):c.874+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27077628C>T" "" "likely pathogenic" "" "0000262505" "0" "90" "10" "27389389" "27389389" "subst" "0" "01943" "ANKRD26_000011" "g.27389389C>T" "" "" "" "ANKRD26(NM_014915.2):c.-134G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27100460C>T" "" "pathogenic" "" "0000262507" "0" "10" "10" "27333133" "27333133" "dup" "0" "01943" "ANKRD26_000003" "g.27333133dup" "" "" "" "ANKRD26(NM_001256053.1):c.1983-3dupT (p.?), ANKRD26(NM_014915.2):c.1986-3dupT, ANKRD26(NM_014915.3):c.1986-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27044204dup" "" "benign" "" "0000262508" "0" "10" "10" "27389197" "27389197" "subst" "0.898971" "01943" "ANKRD26_000010" "g.27389197T>C" "" "" "" "ANKRD26(NM_014915.2):c.59A>G (p.Q20R), ANKRD26(NM_014915.3):c.59A>G (p.Q20R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27100268T>C" "" "benign" "" "0000539786" "0" "30" "10" "27306492" "27306492" "subst" "0.00425511" "01804" "ANKRD26_000012" "g.27306492A>G" "" "" "" "ANKRD26(NM_001256053.1):c.4442T>C (p.(Ile1481Thr)), ANKRD26(NM_014915.2):c.4445T>C (p.I1482T), ANKRD26(NM_014915.3):c.4445T>C (p.I1482T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27017563A>G" "" "likely benign" "" "0000539787" "0" "50" "10" "27306626" "27306626" "subst" "0" "02327" "ANKRD26_000013" "g.27306626C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27017697C>A" "" "VUS" "" "0000539788" "0" "30" "10" "27322306" "27322306" "subst" "0.0100505" "01804" "ANKRD26_000014" "g.27322306C>T" "" "" "" "ANKRD26(NM_001256053.1):c.3652G>A (p.(Val1218Ile)), ANKRD26(NM_014915.3):c.3655G>A (p.V1219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27033377C>T" "" "likely benign" "" "0000539789" "0" "30" "10" "27324372" "27324372" "subst" "0.00125601" "01804" "ANKRD26_000015" "g.27324372C>T" "" "" "" "ANKRD26(NM_001256053.1):c.3004G>A (p.(Glu1002Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27035443C>T" "" "likely benign" "" "0000539792" "0" "30" "10" "27333133" "27333133" "dup" "0" "01804" "ANKRD26_000003" "g.27333133dup" "" "" "" "ANKRD26(NM_001256053.1):c.1983-3dupT (p.?), ANKRD26(NM_014915.2):c.1986-3dupT, ANKRD26(NM_014915.3):c.1986-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27044204dup" "" "likely benign" "" "0000539794" "0" "30" "10" "27353007" "27353007" "subst" "0.0362433" "01804" "ANKRD26_000019" "g.27353007T>C" "" "" "" "ANKRD26(NM_001256053.1):c.1273A>G (p.(Ile425Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27064078T>C" "" "likely benign" "" "0000539795" "0" "30" "10" "27355404" "27355405" "del" "0.00402571" "02326" "ANKRD26_000020" "g.27355404_27355405del" "" "" "" "ANKRD26(NM_014915.2):c.1269+11_1269+12delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27066475_27066476del" "" "likely benign" "" "0000539796" "0" "30" "10" "27355408" "27355410" "del" "0" "01804" "ANKRD26_000021" "g.27355408_27355410del" "" "" "" "ANKRD26(NM_001256053.1):c.1269+7_1269+9del (p.(=)), ANKRD26(NM_014915.2):c.1269+7_1269+9delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27066479_27066481del" "" "likely benign" "" "0000539797" "0" "30" "10" "27355408" "27355410" "del" "0" "02326" "ANKRD26_000021" "g.27355408_27355410del" "" "" "" "ANKRD26(NM_001256053.1):c.1269+7_1269+9del (p.(=)), ANKRD26(NM_014915.2):c.1269+7_1269+9delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27066479_27066481del" "" "likely benign" "" "0000539798" "0" "30" "10" "27368038" "27368038" "subst" "0.00430516" "01804" "ANKRD26_000022" "g.27368038C>T" "" "" "" "ANKRD26(NM_001256053.1):c.793G>A (p.(Asp265Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27079109C>T" "" "likely benign" "" "0000539799" "0" "30" "10" "27389395" "27389395" "subst" "0" "02326" "ANKRD26_000023" "g.27389395G>C" "" "" "" "ANKRD26(NM_014915.2):c.-140C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27100466G>C" "" "likely benign" "" "0000612445" "0" "30" "10" "27324405" "27324405" "subst" "0.0135581" "01804" "ANKRD26_000024" "g.27324405G>A" "" "" "" "ANKRD26(NM_001256053.1):c.2971C>T (p.(Leu991=)), ANKRD26(NM_014915.3):c.2974C>T (p.L992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27035476G>A" "" "likely benign" "" "0000656474" "0" "30" "10" "27322303" "27322303" "subst" "0.0359124" "01804" "ANKRD26_000025" "g.27322303C>G" "" "" "" "ANKRD26(NM_001256053.1):c.3655G>C (p.(Val1219Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27033374C>G" "" "likely benign" "" "0000656476" "0" "30" "10" "27342292" "27342294" "del" "0" "01804" "ANKRD26_000026" "g.27342292_27342294del" "" "" "" "ANKRD26(NM_001256053.1):c.1596_1598del (p.(Glu533del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27053363_27053365del" "" "likely benign" "" "0000656477" "0" "10" "10" "27381397" "27381397" "subst" "0.0132502" "01804" "ANKRD26_000027" "g.27381397C>T" "" "" "" "ANKRD26(NM_001256053.1):c.576G>A (p.(Gln192=)), ANKRD26(NM_014915.3):c.576G>A (p.Q192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27092468C>T" "" "benign" "" "0000678833" "0" "30" "10" "27328937" "27328937" "subst" "0.00224713" "01943" "ANKRD26_000028" "g.27328937C>G" "" "" "" "ANKRD26(NM_014915.2):c.2332G>C (p.E778Q, p.(Glu778Gln)), ANKRD26(NM_014915.3):c.2332G>C (p.E778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678834" "0" "30" "10" "27328997" "27328997" "subst" "4.06491E-6" "01804" "ANKRD26_000029" "g.27328997C>G" "" "" "" "ANKRD26(NM_001256053.1):c.2269G>C (p.(Asp757His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678835" "0" "30" "10" "27366576" "27366576" "subst" "0" "01943" "ANKRD26_000030" "g.27366576T>C" "" "" "" "ANKRD26(NM_014915.2):c.860A>G (p.Q287R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678836" "0" "30" "10" "27381431" "27381431" "subst" "0.00105867" "01943" "ANKRD26_000031" "g.27381431G>A" "" "" "" "ANKRD26(NM_014915.2):c.542C>T (p.T181I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690711" "0" "10" "10" "27349268" "27349268" "subst" "0.0186949" "01804" "ANKRD26_000006" "g.27349268A>G" "" "" "" "ANKRD26(NM_001256053.1):c.1564+6T>C (p.(=)), ANKRD26(NM_014915.2):c.1564+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722793" "0" "50" "10" "27322151" "27322151" "subst" "0" "01943" "ANKRD26_000032" "g.27322151T>A" "" "" "" "ANKRD26(NM_014915.2):c.3807+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722794" "0" "50" "10" "27349299" "27349299" "subst" "0" "02329" "ANKRD26_000007" "g.27349299C>T" "" "" "" "ANKRD26(NM_014915.2):c.1539G>A (p.(Met513Ile)), ANKRD26(NM_014915.3):c.1539G>A (p.M513I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731229" "1" "90" "10" "27382336" "27382336" "subst" "2.4378E-5" "00006" "ANKRD26_000033" "g.27382336T>C" "" "{PMID:Al Daama 2013:23869080}" "" "A473G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731232" "1" "90" "10" "27389389" "27389389" "subst" "0" "00006" "ANKRD26_000011" "g.27389389C>T" "" "{PMID:Pippucci 2011:21211618}" "" "" "variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731233" "1" "90" "10" "27389383" "27389383" "subst" "0" "00006" "ANKRD26_000034" "g.27389383C>T" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis; variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731234" "1" "90" "10" "27389382" "27389382" "subst" "0" "00006" "ANKRD26_000035" "g.27389382T>A" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis; variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731235" "1" "90" "10" "27389373" "27389373" "subst" "0" "00006" "ANKRD26_000036" "g.27389373G>A" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731236" "1" "90" "10" "27389371" "27389371" "subst" "0" "00006" "ANKRD26_000037" "g.27389371G>A" "" "{PMID:Pippucci 2011:21211618}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731237" "1" "90" "10" "27389389" "27389389" "subst" "0" "00006" "ANKRD26_000011" "g.27389389C>T" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis; variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731238" "1" "90" "10" "27389380" "27389380" "subst" "0" "00006" "ANKRD26_000038" "g.27389380A>C" "" "{PMID:Pippucci 2011:21211618}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731239" "1" "90" "10" "27389383" "27389383" "subst" "0" "00006" "ANKRD26_000034" "g.27389383C>T" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis; variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731240" "1" "90" "10" "27389382" "27389382" "subst" "0" "00006" "ANKRD26_000035" "g.27389382T>A" "" "{PMID:Pippucci 2011:21211618}" "" "" "mapped by linkage analysis; variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731241" "0" "10" "10" "27389361" "27389361" "subst" "0" "00006" "ANKRD26_000039" "g.27389361A>G" "" "{PMID:Pippucci 2011:21211618}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000731244" "1" "90" "10" "27389389" "27389389" "subst" "0" "00006" "ANKRD26_000011" "g.27389389C>T" "" "{PMID:Pippucci 2011:21211618}" "" "" "variant gives significantly increased expression (luciferase reporter assay undifferentiated myeloid cells)" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000804398" "0" "30" "10" "27318285" "27318285" "subst" "0" "01943" "ANKRD26_000040" "g.27318285A>G" "" "" "" "ANKRD26(NM_014915.2):c.3808T>C (p.L1270=), ANKRD26(NM_014915.3):c.3808T>C (p.L1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804399" "0" "30" "10" "27328937" "27328937" "subst" "0.00224713" "02326" "ANKRD26_000028" "g.27328937C>G" "" "" "" "ANKRD26(NM_014915.2):c.2332G>C (p.E778Q, p.(Glu778Gln)), ANKRD26(NM_014915.3):c.2332G>C (p.E778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804400" "0" "30" "10" "27333102" "27333102" "subst" "1.38917E-5" "02326" "ANKRD26_000041" "g.27333102G>A" "" "" "" "ANKRD26(NM_014915.2):c.2003C>T (p.S668F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804401" "0" "30" "10" "27381431" "27381431" "subst" "0.00105867" "02326" "ANKRD26_000031" "g.27381431G>A" "" "" "" "ANKRD26(NM_014915.2):c.542C>T (p.T181I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852476" "0" "70" "10" "27326213" "27326213" "subst" "1.21924E-5" "02327" "ANKRD26_000045" "g.27326213G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861888" "0" "30" "10" "27324320" "27324320" "subst" "3.25444E-5" "01943" "ANKRD26_000042" "g.27324320C>T" "" "" "" "ANKRD26(NM_014915.2):c.3059G>A (p.R1020H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861889" "0" "30" "10" "27324477" "27324477" "subst" "0.000105676" "02326" "ANKRD26_000043" "g.27324477T>C" "" "" "" "ANKRD26(NM_014915.2):c.2902A>G (p.T968A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861890" "0" "30" "10" "27326133" "27326133" "subst" "0.00235983" "02326" "ANKRD26_000044" "g.27326133T>C" "" "" "" "ANKRD26(NM_014915.2):c.2679A>G (p.Q893=), ANKRD26(NM_014915.3):c.2679A>G (p.Q893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861891" "0" "10" "10" "27333133" "27333133" "dup" "0" "02329" "ANKRD26_000003" "g.27333133dup" "" "" "" "ANKRD26(NM_001256053.1):c.1983-3dupT (p.?), ANKRD26(NM_014915.2):c.1986-3dupT, ANKRD26(NM_014915.3):c.1986-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861892" "0" "30" "10" "27366407" "27366407" "subst" "0.000548379" "02326" "ANKRD26_000046" "g.27366407C>A" "" "" "" "ANKRD26(NM_014915.2):c.937G>T (p.D313Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861893" "0" "70" "10" "27389371" "27389371" "subst" "0" "02327" "ANKRD26_000037" "g.27389371G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889115" "0" "10" "10" "27322306" "27322306" "subst" "0.0100505" "02329" "ANKRD26_000014" "g.27322306C>T" "" "" "" "ANKRD26(NM_001256053.1):c.3652G>A (p.(Val1218Ile)), ANKRD26(NM_014915.3):c.3655G>A (p.V1219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889116" "0" "10" "10" "27324405" "27324405" "subst" "0.0135581" "02329" "ANKRD26_000024" "g.27324405G>A" "" "" "" "ANKRD26(NM_001256053.1):c.2971C>T (p.(Leu991=)), ANKRD26(NM_014915.3):c.2974C>T (p.L992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913272" "0" "30" "10" "27318207" "27318207" "subst" "8.41283E-6" "02326" "ANKRD26_000047" "g.27318207A>C" "" "" "" "ANKRD26(NM_014915.2):c.3878+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913273" "0" "30" "10" "27328937" "27328937" "subst" "0.00224713" "02329" "ANKRD26_000028" "g.27328937C>G" "" "" "" "ANKRD26(NM_014915.2):c.2332G>C (p.E778Q, p.(Glu778Gln)), ANKRD26(NM_014915.3):c.2332G>C (p.E778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913274" "0" "30" "10" "27371768" "27371768" "subst" "0.000158936" "02326" "ANKRD26_000048" "g.27371768A>G" "" "" "" "ANKRD26(NM_014915.2):c.710-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925144" "0" "30" "10" "27356140" "27356140" "subst" "3.25063E-5" "02326" "ANKRD26_000049" "g.27356140T>C" "" "" "" "ANKRD26(NM_014915.2):c.1153A>G (p.T385A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949379" "0" "10" "10" "27323995" "27323995" "subst" "0.0174707" "02329" "ANKRD26_000050" "g.27323995C>T" "" "" "" "ANKRD26(NM_014915.3):c.3384G>A (p.(Lys1128=), p.K1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949380" "0" "30" "10" "27326098" "27326098" "subst" "0.00114059" "02326" "ANKRD26_000051" "g.27326098A>G" "" "" "" "ANKRD26(NM_014915.2):c.2697+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949381" "0" "30" "10" "27333132" "27333133" "dup" "0" "02329" "ANKRD26_000052" "g.27333132_27333133dup" "" "" "" "ANKRD26(NM_014915.2):c.1986-4_1986-3dupTT, ANKRD26(NM_014915.3):c.1986-4_1986-3dup, ANKRD26(NM_014915.3):c.1986-4_1986-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949382" "0" "30" "10" "27382639" "27382639" "subst" "0.00221363" "02326" "ANKRD26_000053" "g.27382639T>C" "" "" "" "ANKRD26(NM_014915.2):c.332A>G (p.N111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965700" "0" "10" "10" "27306492" "27306492" "subst" "0.00425511" "02329" "ANKRD26_000012" "g.27306492A>G" "" "" "" "ANKRD26(NM_001256053.1):c.4442T>C (p.(Ile1481Thr)), ANKRD26(NM_014915.2):c.4445T>C (p.I1482T), ANKRD26(NM_014915.3):c.4445T>C (p.I1482T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965701" "0" "30" "10" "27333132" "27333133" "dup" "0" "02326" "ANKRD26_000052" "g.27333132_27333133dup" "" "" "" "ANKRD26(NM_014915.2):c.1986-4_1986-3dupTT, ANKRD26(NM_014915.3):c.1986-4_1986-3dup, ANKRD26(NM_014915.3):c.1986-4_1986-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979001" "0" "50" "10" "27306508" "27306508" "subst" "4.06722E-6" "01804" "ANKRD26_000054" "g.27306508G>A" "" "" "" "ANKRD26(NM_014915.3):c.4429C>T (p.(Gln1477Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979002" "0" "30" "10" "27311557" "27311557" "subst" "0.00123059" "01804" "ANKRD26_000055" "g.27311557A>T" "" "" "" "ANKRD26(NM_014915.3):c.4145T>A (p.(Phe1382Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979003" "0" "30" "10" "27333132" "27333133" "dup" "0" "01804" "ANKRD26_000052" "g.27333132_27333133dup" "" "" "" "ANKRD26(NM_014915.2):c.1986-4_1986-3dupTT, ANKRD26(NM_014915.3):c.1986-4_1986-3dup, ANKRD26(NM_014915.3):c.1986-4_1986-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979004" "0" "50" "10" "27366557" "27366557" "subst" "4.06851E-6" "01804" "ANKRD26_000009" "g.27366557C>T" "" "" "" "ANKRD26(NM_014915.2):c.874+5G>A, ANKRD26(NM_014915.3):c.874+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979005" "0" "10" "10" "27381397" "27381397" "subst" "0.0132502" "02329" "ANKRD26_000027" "g.27381397C>T" "" "" "" "ANKRD26(NM_001256053.1):c.576G>A (p.(Gln192=)), ANKRD26(NM_014915.3):c.576G>A (p.Q192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000998245" "0" "30" "10" "27294605" "27294605" "subst" "0" "01804" "ANKRD26_000056" "g.27294605T>C" "" "" "" "ANKRD26(NM_014915.2):c.5047A>G (p.(Thr1683Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998246" "0" "30" "10" "27303463" "27303463" "subst" "4.13397E-5" "01804" "ANKRD26_000057" "g.27303463C>T" "" "" "" "ANKRD26(NM_014915.2):c.4684G>A (p.(Glu1562Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998247" "0" "30" "10" "27306447" "27306447" "subst" "0.00110372" "01804" "ANKRD26_000058" "g.27306447A>T" "" "" "" "ANKRD26(NM_014915.2):c.4490T>A (p.(Val1497Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998248" "0" "30" "10" "27318225" "27318225" "subst" "1.64655E-5" "01804" "ANKRD26_000059" "g.27318225G>C" "" "" "" "ANKRD26(NM_014915.2):c.3868C>G (p.(His1290Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998249" "0" "50" "10" "27322197" "27322197" "subst" "0" "01804" "ANKRD26_000060" "g.27322197T>C" "" "" "" "ANKRD26(NM_014915.2):c.3764A>G (p.(Glu1255Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998250" "0" "30" "10" "27328937" "27328937" "subst" "0.00224713" "01804" "ANKRD26_000028" "g.27328937C>G" "" "" "" "ANKRD26(NM_014915.2):c.2332G>C (p.E778Q, p.(Glu778Gln)), ANKRD26(NM_014915.3):c.2332G>C (p.E778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998251" "0" "50" "10" "27335455" "27335455" "subst" "4.06971E-6" "01804" "ANKRD26_000061" "g.27335455T>C" "" "" "" "ANKRD26(NM_014915.2):c.1815-3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998252" "0" "50" "10" "27349299" "27349299" "subst" "0" "01804" "ANKRD26_000007" "g.27349299C>T" "" "" "" "ANKRD26(NM_014915.2):c.1539G>A (p.(Met513Ile)), ANKRD26(NM_014915.3):c.1539G>A (p.M513I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998253" "0" "50" "10" "27366386" "27366386" "subst" "0" "01804" "ANKRD26_000062" "g.27366386C>A" "" "" "" "ANKRD26(NM_014915.2):c.958G>T (p.(Val320Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998254" "0" "50" "10" "27366460" "27366460" "dup" "0" "01804" "ANKRD26_000063" "g.27366460dup" "" "" "" "ANKRD26(NM_001256053.1):c.884dupC (p.(Tyr296fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998255" "0" "50" "10" "27382726" "27382726" "subst" "3.65604E-5" "01804" "ANKRD26_000064" "g.27382726G>A" "" "" "" "ANKRD26(NM_014915.2):c.245C>T (p.(Thr82Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998256" "0" "30" "10" "27389246" "27389246" "subst" "0" "01804" "ANKRD26_000065" "g.27389246T>C" "" "" "" "ANKRD26(NM_014915.2):c.10A>G (p.(Ile4Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014613" "0" "30" "10" "27326133" "27326133" "subst" "0.00235983" "02329" "ANKRD26_000044" "g.27326133T>C" "" "" "" "ANKRD26(NM_014915.2):c.2679A>G (p.Q893=), ANKRD26(NM_014915.3):c.2679A>G (p.Q893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025736" "0" "30" "10" "27318285" "27318285" "subst" "0" "02329" "ANKRD26_000040" "g.27318285A>G" "" "" "" "ANKRD26(NM_014915.2):c.3808T>C (p.L1270=), ANKRD26(NM_014915.3):c.3808T>C (p.L1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037868" "0" "50" "10" "27306721" "27306721" "subst" "0" "01804" "ANKRD26_000066" "g.27306721T>A" "" "" "" "ANKRD26(NM_014915.3):c.4216A>T (p.(Ile1406Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037869" "0" "30" "10" "27323995" "27323995" "subst" "0.0174707" "01804" "ANKRD26_000050" "g.27323995C>T" "" "" "" "ANKRD26(NM_014915.3):c.3384G>A (p.(Lys1128=), p.K1128=)" "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 ANKRD26 ## Count = 89 "{{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}}" "0000251474" "00002530" "10" "1564" "6" "1564" "6" "c.1564+6T>C" "r.(=)" "p.(=)" "" "0000252186" "00002530" "30" "1986" "-3" "1986" "-3" "c.1986-3del" "r.spl?" "p.?" "" "0000254500" "00002530" "30" "4445" "0" "4445" "0" "c.4445T>C" "r.(?)" "p.(Ile1482Thr)" "" "0000259088" "00002530" "10" "2376" "-16" "2376" "-16" "c.2376-16A>G" "r.(=)" "p.(=)" "" "0000259089" "00002530" "10" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Gln20Arg)" "" "0000260988" "00002530" "10" "1207" "15" "1207" "15" "c.1207+15A>G" "r.(=)" "p.(=)" "" "0000260989" "00002530" "10" "1868" "0" "1868" "0" "c.1868G>A" "r.(?)" "p.(Arg623Gln)" "" "0000260990" "00002530" "70" "874" "5" "874" "5" "c.874+5G>A" "r.spl?" "p.?" "" "0000262505" "00002530" "90" "-134" "0" "-134" "0" "c.-134G>A" "r.(?)" "p.(=)" "" "0000262507" "00002530" "10" "1986" "-3" "1986" "-3" "c.1986-3dup" "r.spl?" "p.?" "" "0000262508" "00002530" "10" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Gln20Arg)" "" "0000539786" "00002530" "30" "4445" "0" "4445" "0" "c.4445T>C" "r.(?)" "p.(Ile1482Thr)" "" "0000539787" "00002530" "50" "4311" "0" "4311" "0" "c.4311G>T" "r.(?)" "p.(Met1437Ile)" "" "0000539788" "00002530" "30" "3655" "0" "3655" "0" "c.3655G>A" "r.(?)" "p.(Val1219Ile)" "" "0000539789" "00002530" "30" "3007" "0" "3007" "0" "c.3007G>A" "r.(?)" "p.(Glu1003Lys)" "" "0000539792" "00002530" "30" "1986" "-3" "1986" "-3" "c.1986-3dup" "r.spl?" "p.?" "" "0000539794" "00002530" "30" "1273" "0" "1273" "0" "c.1273A>G" "r.(?)" "p.(Ile425Val)" "" "0000539795" "00002530" "30" "1269" "11" "1269" "12" "c.1269+11_1269+12del" "r.(=)" "p.(=)" "" "0000539796" "00002530" "30" "1269" "7" "1269" "9" "c.1269+7_1269+9del" "r.(=)" "p.(=)" "" "0000539797" "00002530" "30" "1269" "7" "1269" "9" "c.1269+7_1269+9del" "r.(=)" "p.(=)" "" "0000539798" "00002530" "30" "793" "0" "793" "0" "c.793G>A" "r.(?)" "p.(Asp265Asn)" "" "0000539799" "00002530" "30" "-140" "0" "-140" "0" "c.-140C>G" "r.(?)" "p.(=)" "" "0000612445" "00002530" "30" "2974" "0" "2974" "0" "c.2974C>T" "r.(?)" "p.(Leu992=)" "" "0000656474" "00002530" "30" "3658" "0" "3658" "0" "c.3658G>C" "r.(?)" "p.(Val1220Leu)" "" "0000656476" "00002530" "30" "1596" "0" "1598" "0" "c.1596_1598del" "r.(?)" "p.(Glu533del)" "" "0000656477" "00002530" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Gln192=)" "" "0000678833" "00002530" "30" "2332" "0" "2332" "0" "c.2332G>C" "r.(?)" "p.(Glu778Gln)" "" "0000678834" "00002530" "30" "2272" "0" "2272" "0" "c.2272G>C" "r.(?)" "p.(Asp758His)" "" "0000678835" "00002530" "30" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Gln287Arg)" "" "0000678836" "00002530" "30" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Thr181Ile)" "" "0000690711" "00002530" "10" "1564" "6" "1564" "6" "c.1564+6T>C" "r.(=)" "p.(=)" "" "0000722793" "00002530" "50" "3807" "3" "3807" "3" "c.3807+3A>T" "r.spl?" "p.?" "" "0000722794" "00002530" "50" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Met513Ile)" "" "0000731229" "00002530" "90" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asp158Gly)" "" "0000731232" "00002530" "90" "-134" "0" "-134" "0" "c.-134G>A" "r.?" "p.?" "1" "0000731233" "00002530" "90" "-128" "0" "-128" "0" "c.-128G>A" "r.?" "p.?" "1" "0000731234" "00002530" "90" "-127" "0" "-127" "0" "c.-127A>T" "r.?" "p.?" "1" "0000731235" "00002530" "90" "-118" "0" "-118" "0" "c.-118C>T" "r.?" "p.?" "1" "0000731236" "00002530" "90" "-116" "0" "-116" "0" "c.-116C>T" "r.?" "p.?" "1" "0000731237" "00002530" "90" "-134" "0" "-134" "0" "c.-134G>A" "r.?" "p.?" "1" "0000731238" "00002530" "90" "-125" "0" "-125" "0" "c.-125T>G" "r.?" "p.?" "1" "0000731239" "00002530" "90" "-128" "0" "-128" "0" "c.-128G>A" "r.?" "p.?" "1" "0000731240" "00002530" "90" "-127" "0" "-127" "0" "c.-127A>T" "r.?" "p.?" "1" "0000731241" "00002530" "10" "-106" "0" "-106" "0" "c.-106T>C" "r.(=)" "p.(=)" "" "0000731244" "00002530" "90" "-134" "0" "-134" "0" "c.-134G>A" "r.?" "p.?" "1" "0000804398" "00002530" "30" "3808" "0" "3808" "0" "c.3808T>C" "r.(?)" "p.(Leu1270=)" "" "0000804399" "00002530" "30" "2332" "0" "2332" "0" "c.2332G>C" "r.(?)" "p.(Glu778Gln)" "" "0000804400" "00002530" "30" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Ser668Phe)" "" "0000804401" "00002530" "30" "542" "0" "542" "0" "c.542C>T" "r.(?)" "p.(Thr181Ile)" "" "0000852476" "00002530" "70" "2599" "0" "2599" "0" "c.2599C>T" "r.(?)" "p.(Arg867*)" "" "0000861888" "00002530" "30" "3059" "0" "3059" "0" "c.3059G>A" "r.(?)" "p.(Arg1020His)" "" "0000861889" "00002530" "30" "2902" "0" "2902" "0" "c.2902A>G" "r.(?)" "p.(Thr968Ala)" "" "0000861890" "00002530" "30" "2679" "0" "2679" "0" "c.2679A>G" "r.(?)" "p.(Gln893=)" "" "0000861891" "00002530" "10" "1986" "-3" "1986" "-3" "c.1986-3dup" "r.spl?" "p.?" "" "0000861892" "00002530" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Asp313Tyr)" "" "0000861893" "00002530" "70" "-116" "0" "-116" "0" "c.-116C>T" "r.(?)" "p.(=)" "" "0000889115" "00002530" "10" "3655" "0" "3655" "0" "c.3655G>A" "r.(?)" "p.(Val1219Ile)" "" "0000889116" "00002530" "10" "2974" "0" "2974" "0" "c.2974C>T" "r.(?)" "p.(Leu992=)" "" "0000913272" "00002530" "30" "3878" "8" "3878" "8" "c.3878+8T>G" "r.(=)" "p.(=)" "" "0000913273" "00002530" "30" "2332" "0" "2332" "0" "c.2332G>C" "r.(?)" "p.(Glu778Gln)" "" "0000913274" "00002530" "30" "710" "-6" "710" "-6" "c.710-6T>C" "r.(=)" "p.(=)" "" "0000925144" "00002530" "30" "1153" "0" "1153" "0" "c.1153A>G" "r.(?)" "p.(Thr385Ala)" "" "0000949379" "00002530" "10" "3384" "0" "3384" "0" "c.3384G>A" "r.(?)" "p.(=)" "" "0000949380" "00002530" "30" "2697" "17" "2697" "17" "c.2697+17T>C" "r.(=)" "p.(=)" "" "0000949381" "00002530" "30" "1986" "-4" "1986" "-3" "c.1986-4_1986-3dup" "r.spl?" "p.?" "" "0000949382" "00002530" "30" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Asn111Ser)" "" "0000965700" "00002530" "10" "4445" "0" "4445" "0" "c.4445T>C" "r.(?)" "p.(Ile1482Thr)" "" "0000965701" "00002530" "30" "1986" "-4" "1986" "-3" "c.1986-4_1986-3dup" "r.spl?" "p.?" "" "0000979001" "00002530" "50" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Gln1477*)" "" "0000979002" "00002530" "30" "4145" "0" "4145" "0" "c.4145T>A" "r.(?)" "p.(Phe1382Tyr)" "" "0000979003" "00002530" "30" "1986" "-4" "1986" "-3" "c.1986-4_1986-3dup" "r.spl?" "p.?" "" "0000979004" "00002530" "50" "874" "5" "874" "5" "c.874+5G>A" "r.spl?" "p.?" "" "0000979005" "00002530" "10" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Gln192=)" "" "0000998245" "00002530" "30" "5047" "0" "5047" "0" "c.5047A>G" "r.(?)" "p.(Thr1683Ala)" "" "0000998246" "00002530" "30" "4684" "0" "4684" "0" "c.4684G>A" "r.(?)" "p.(Glu1562Lys)" "" "0000998247" "00002530" "30" "4490" "0" "4490" "0" "c.4490T>A" "r.(?)" "p.(Val1497Asp)" "" "0000998248" "00002530" "30" "3868" "0" "3868" "0" "c.3868C>G" "r.(?)" "p.(His1290Asp)" "" "0000998249" "00002530" "50" "3764" "0" "3764" "0" "c.3764A>G" "r.(?)" "p.(Glu1255Gly)" "" "0000998250" "00002530" "30" "2332" "0" "2332" "0" "c.2332G>C" "r.(?)" "p.(Glu778Gln)" "" "0000998251" "00002530" "50" "1815" "-3" "1815" "-3" "c.1815-3A>G" "r.spl?" "p.?" "" "0000998252" "00002530" "50" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Met513Ile)" "" "0000998253" "00002530" "50" "958" "0" "958" "0" "c.958G>T" "r.(?)" "p.(Val320Phe)" "" "0000998254" "00002530" "50" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Tyr296Ilefs*9)" "" "0000998255" "00002530" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "" "0000998256" "00002530" "30" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Ile4Val)" "" "0001014613" "00002530" "30" "2679" "0" "2679" "0" "c.2679A>G" "r.(?)" "p.(Gln893=)" "" "0001025736" "00002530" "30" "3808" "0" "3808" "0" "c.3808T>C" "r.(?)" "p.(Leu1270=)" "" "0001037868" "00002530" "50" "4216" "0" "4216" "0" "c.4216A>T" "r.(?)" "p.(Ile1406Phe)" "" "0001037869" "00002530" "30" "3384" "0" "3384" "0" "c.3384G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000333555" "0000731229" "0000333558" "0000731232" "0000333559" "0000731233" "0000333560" "0000731234" "0000333561" "0000731235" "0000333562" "0000731236" "0000333563" "0000731237" "0000333564" "0000731238" "0000333565" "0000731239" "0000333566" "0000731240" "0000333567" "0000731241" "0000333569" "0000731244"