### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAAF3) # 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}}" "DNAAF3" "dynein, axonemal, assembly factor 3" "19" "q13.42" "unknown" "NG_032759.1" "UD_136017701579" "" "http://www.LOVD.nl/DNAAF3" "" "1" "30492" "352909" "614566" "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/DNAAF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-09 15:51:07" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006515" "DNAAF3" "transcript variant 2" "002" "NM_178837.4" "" "NP_849159.2" "" "" "" "-74" "2168" "1767" "55678090" "55670029" "" "0000-00-00 00:00:00" "" "" "00025980" "DNAAF3" "transcript variant 3" "001" "NM_001256715.1" "" "NP_001243644.1" "" "" "RefSeq select" "-204" "2027" "1626" "55678090" "55670029" "00006" "2025-02-09 15:48:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "02600" "CILD2" "dyskinesia, ciliary, primary, 2 (CILD-2)" "AR" "606763" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAAF3" "00332" "DNAAF3" "02600" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00462333" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat18" "00462354" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462355" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00462333" "00332" "00462354" "00332" "00462355" "00332" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00332, 02600 ## Count = 3 "{{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}}" "0000349832" "00332" "00462333" "00006" "Unknown" "" "33wg-birth prematurity, primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "0000349853" "00332" "00462354" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "0000349854" "00332" "00462355" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000463965" "00462333" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463986" "00462354" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463987" "00462355" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 246 "{{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}}" "0000247551" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02330" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000247556" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02330" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000247933" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02325" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000247977" "0" "10" "19" "55672784" "55672784" "subst" "0.182879" "02325" "DNAAF3_000014" "g.55672784A>G" "" "" "" "DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161416A>G" "" "benign" "" "0000248255" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02325" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "benign" "" "0000249413" "0" "30" "19" "55667982" "55667982" "subst" "4.6463E-5" "02325" "TNNI3_000082" "g.55667982A>G" "" "" "" "TNNI3(NM_000363.5):c.139T>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156614A>G" "" "likely benign" "" "0000251701" "0" "30" "19" "55665584" "55665584" "subst" "0.999984" "02326" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154216=" "" "likely benign" "" "0000253194" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "01943" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157141A>T" "" "benign" "" "0000253238" "0" "10" "19" "55672784" "55672784" "subst" "0.182879" "01943" "DNAAF3_000014" "g.55672784A>G" "" "" "" "DNAAF3(NM_001256714.1):c.870T>C (p.A290=), DNAAF3(NM_001256716.2):c.504T>C (p.A168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161416A>G" "" "benign" "" "0000253940" "0" "10" "19" "55668819" "55668819" "subst" "0" "01943" "TNNI3_000095" "g.55668819A>G" "" "" "" "TNNI3(NM_000363.4):c.11+128T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157451A>G" "" "benign" "" "0000267435" "0" "10" "19" "55671094" "55671094" "del" "0" "02325" "DNAAF3_000005" "g.55671094del" "" "" "" "DNAAF3(NM_001256716.2):c.1002-116delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159726del" "" "benign" "" "0000267436" "0" "10" "19" "55670825" "55670825" "subst" "0.322739" "02325" "DNAAF3_000003" "g.55670825T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159457T>C" "" "benign" "" "0000267437" "0" "10" "19" "55672569" "55672569" "subst" "0.158185" "02325" "DNAAF3_000013" "g.55672569G>A" "" "" "" "DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161201G>A" "" "benign" "" "0000267438" "0" "10" "19" "55672470" "55672470" "subst" "0.159055" "02325" "DNAAF3_000010" "g.55672470T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161102T>C" "" "benign" "" "0000267439" "0" "10" "19" "55671374" "55671374" "subst" "0.214899" "02325" "DNAAF3_000008" "g.55671374C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160006C>T" "" "benign" "" "0000267440" "0" "10" "19" "55671337" "55671337" "subst" "1" "02325" "DNAAF3_000007" "g.55671337C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159969=" "" "benign" "" "0000275152" "0" "30" "19" "55672514" "55672514" "subst" "0" "01943" "DNAAF3_000012" "g.55672514G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1035C>T (p.I345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161146G>A" "" "likely benign" "" "0000275153" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "01943" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161145C>T" "" "likely benign" "" "0000275154" "0" "10" "19" "55670825" "55670825" "subst" "0.322739" "01943" "DNAAF3_000003" "g.55670825T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1440-8A>G, DNAAF3(NM_001256716.2):c.1077-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159457T>C" "" "benign" "" "0000275155" "0" "30" "19" "55672129" "55672129" "subst" "4.13363E-6" "01943" "DNAAF3_000009" "g.55672129G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1131C>T (p.I377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160761G>A" "" "likely benign" "" "0000275156" "0" "30" "19" "55677886" "55677886" "subst" "0.0021356" "01943" "DNAAF3_000018" "g.55677886C>A" "" "" "" "DNAAF3(NM_001256714.1):c.131G>T (p.W44L, p.(Trp44Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55166518C>A" "" "likely benign" "" "0000275157" "0" "50" "19" "55671257" "55671257" "subst" "0.00228548" "01943" "DNAAF3_000006" "g.55671257C>A" "" "" "" "DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159889C>A" "" "VUS" "" "0000275158" "0" "10" "19" "55670989" "55670989" "subst" "0.106587" "01943" "DNAAF3_000004" "g.55670989G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1365-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159621G>A" "" "benign" "" "0000275159" "0" "30" "19" "55670513" "55670513" "subst" "1.62951E-5" "01943" "DNAAF3_000001" "g.55670513C>T" "" "" "" "DNAAF3(NM_001256716.1):c.1381G>A (p.G461S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159145C>T" "" "likely benign" "" "0000275160" "0" "30" "19" "55670651" "55670651" "subst" "0.00212085" "01943" "DNAAF3_000002" "g.55670651C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159283C>T" "" "likely benign" "" "0000275161" "0" "10" "19" "55673654" "55673654" "subst" "0.0350278" "01943" "DNAAF3_000016" "g.55673654T>C" "" "" "" "DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55162286T>C" "" "benign" "" "0000275162" "0" "10" "19" "55672569" "55672569" "subst" "0.158185" "01943" "DNAAF3_000013" "g.55672569G>A" "" "" "" "DNAAF3(NM_001256714.1):c.994-14C>T, DNAAF3(NM_001256716.2):c.628-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161201G>A" "" "benign" "" "0000275163" "0" "10" "19" "55672470" "55672470" "subst" "0.159055" "01943" "DNAAF3_000010" "g.55672470T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1079A>G (p.E360G), DNAAF3(NM_001256716.2):c.713A>G (p.E238G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161102T>C" "" "benign" "" "0000275164" "0" "10" "19" "55673164" "55673164" "subst" "0.128793" "01943" "DNAAF3_000015" "g.55673164T>C" "" "" "" "DNAAF3(NM_001256714.1):c.714A>G (p.V238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55161796T>C" "" "benign" "" "0000275165" "0" "10" "19" "55671374" "55671374" "subst" "0.214899" "01943" "DNAAF3_000008" "g.55671374C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1257G>A (p.P419=), DNAAF3(NM_001256716.2):c.894G>A (p.P298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55160006C>T" "" "benign" "" "0000275166" "0" "10" "19" "55671337" "55671337" "subst" "1" "01943" "DNAAF3_000007" "g.55671337C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1294G>A (p.D432N), DNAAF3(NM_001256716.2):c.931G>A (p.D311N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159969=" "" "benign" "" "0000309271" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02330" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "benign" "" "0000309273" "0" "10" "19" "55668684" "55668684" "del" "0" "02330" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157316del" "" "benign" "" "0000309275" "0" "10" "19" "55667958" "55667958" "subst" "0.0181143" "02330" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156590C>T" "" "benign" "" "0000309276" "0" "10" "19" "55667718" "55667719" "del" "0" "02330" "TNNI3_000149" "g.55667718_55667719del" "" "" "" "TNNI3(NM_000363.5):c.151-18_151-17delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156350_55156351del" "" "benign" "" "0000309279" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02330" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000309281" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02330" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000309282" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "02330" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000309284" "0" "10" "19" "55667578" "55667578" "subst" "0.000355387" "02330" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156210C>T" "" "benign" "" "0000309285" "0" "50" "19" "55666113" "55666113" "subst" "8.1275E-6" "02330" "TNNI3_000138" "g.55666113G>A" "" "" "" "TNNI3(NM_000363.5):c.368C>T (p.T123M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154745G>A" "" "VUS" "" "0000309287" "0" "50" "19" "55665540" "55665540" "subst" "4.07671E-6" "02330" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>T" "" "VUS" "" "0000309288" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02330" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000309289" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02330" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000309291" "0" "70" "19" "55665416" "55665416" "subst" "0" "02330" "TNNI3_000125" "g.55665416C>A" "" "" "" "TNNI3(NM_000363.5):c.531G>T (p.K177N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154048C>A" "" "likely pathogenic" "" "0000309293" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02330" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000309294" "0" "10" "19" "55665404" "55665404" "subst" "0" "02330" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000311929" "0" "30" "19" "55668029" "55668029" "subst" "0.0039672" "02325" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "likely benign" "" "0000311930" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02325" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000311931" "0" "30" "19" "55667607" "55667607" "subst" "0.00144663" "02325" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "likely benign" "" "0000311932" "0" "70" "19" "55666189" "55666189" "subst" "6.50063E-5" "02325" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "likely pathogenic" "" "0000311933" "0" "30" "19" "55666151" "55666151" "subst" "0" "02325" "TNNI3_000139" "g.55666151C>T" "" "" "" "TNNI3(NM_000363.5):c.330G>A (p.E110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154783C>T" "" "likely benign" "" "0000311934" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02325" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000311935" "0" "90" "19" "55665513" "55665513" "subst" "1.62829E-5" "02325" "TNNI3_000012" "g.55665513C>T" "" "" "" "TNNI3(NM_000363.5):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154145C>T" "" "pathogenic" "" "0000311936" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02325" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154094C>T" "" "likely pathogenic" "" "0000311937" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02325" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000311938" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02325" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000314725" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02326" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000314726" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02326" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000314727" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02326" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156248G>A" "" "likely benign" "" "0000314728" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "02326" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000314729" "0" "30" "19" "55668505" "55668505" "subst" "0.000171338" "02326" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157137G>A" "" "likely benign" "" "0000314730" "0" "50" "19" "55666189" "55666189" "subst" "6.50063E-5" "02326" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "VUS" "" "0000314731" "0" "30" "19" "55665578" "55665578" "subst" "0" "02326" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000314732" "0" "70" "19" "55665540" "55665540" "subst" "0" "02326" "TNNI3_000133" "g.55665540C>G" "" "" "" "TNNI3(NM_000363.4):c.407G>C (p.R136P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154172C>G" "" "likely pathogenic" "" "0000314733" "0" "70" "19" "55665454" "55665454" "subst" "0" "02326" "TNNI3_000127" "g.55665454C>T" "" "" "" "TNNI3(NM_000363.4):c.493G>A (p.E165K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154086C>T" "" "likely pathogenic" "" "0000314734" "0" "90" "19" "55665398" "55665398" "subst" "0" "02326" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154030C>G" "" "pathogenic" "" "0000314735" "0" "50" "19" "55668458" "55668458" "subst" "0" "02326" "TNNI3_000088" "g.55668458G>C" "" "" "" "TNNI3(NM_000363.4):c.68C>G (p.S23C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157090G>C" "" "VUS" "" "0000314736" "0" "70" "19" "55668438" "55668438" "subst" "0" "02326" "TNNI3_000087" "g.55668438C>T" "" "" "" "TNNI3(NM_000363.4):c.88G>A (p.A30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157070C>T" "" "likely pathogenic" "" "0000316838" "0" "10" "19" "55668397" "55668397" "subst" "0.0663405" "01943" "TNNI3_000001" "g.55668397C>T" "" "" "" "TNNI3(NM_000363.4):c.108+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157029C>T" "" "benign" "" "0000316839" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "01943" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156661G>T" "" "benign" "" "0000316841" "0" "10" "19" "55668703" "55668704" "delins" "0" "01943" "TNNI3_000093" "g.55668703_55668704delinsA" "" "" "" "TNNI3(NM_000363.4):c.12-28_12-27delCCinsT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157335_55157336delinsA" "" "benign" "" "0000316843" "0" "10" "19" "55668684" "55668684" "del" "0" "01943" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55157316del" "" "benign" "" "0000316844" "0" "10" "19" "55667958" "55667958" "subst" "0.0181143" "01943" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156590C>T" "" "benign" "" "0000316845" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "01943" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156285C>T" "" "benign" "" "0000316846" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "01943" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156279C>A" "" "benign" "" "0000316847" "0" "50" "19" "55667620" "55667621" "delins" "0" "01943" "TNNI3_000143" "g.55667620_55667621delinsAA" "" "" "" "TNNI3(NM_000363.4):c.230_231delGCinsTT (p.S77I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156252_55156253delinsAA" "" "VUS" "" "0000316848" "0" "10" "19" "55667607" "55667607" "subst" "0.00144663" "01943" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "benign" "" "0000316849" "0" "30" "19" "55667578" "55667578" "subst" "0.000355387" "01943" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156210C>T" "" "likely benign" "" "0000316850" "0" "10" "19" "55666207" "55666207" "subst" "3.25198E-5" "01943" "TNNI3_000140" "g.55666207G>A" "" "" "" "TNNI3(NM_000363.4):c.283-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154839G>A" "" "benign" "" "0000316851" "0" "90" "19" "55666189" "55666189" "subst" "6.50063E-5" "01943" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154821G>A" "" "pathogenic" "" "0000316852" "0" "10" "19" "55666083" "55666083" "subst" "6.94887E-5" "01943" "TNNI3_000137" "g.55666083G>A" "" "" "" "TNNI3(NM_000363.4):c.372+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154715G>A" "" "benign" "" "0000316853" "0" "30" "19" "55665578" "55665578" "subst" "0" "01943" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154210G>A" "" "likely benign" "" "0000316854" "0" "50" "19" "55665571" "55665571" "subst" "0" "01943" "TNNI3_000134" "g.55665571C>T" "" "" "" "TNNI3(NM_000363.4):c.376G>A (p.A126T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154203C>T" "" "VUS" "" "0000316855" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "01943" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154146G>A" "" "pathogenic" "" "0000316856" "0" "90" "19" "55665477" "55665477" "subst" "0" "01943" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154109G>A" "" "pathogenic" "" "0000316857" "0" "50" "19" "55665456" "55665456" "subst" "0" "01943" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154088T>G" "" "VUS" "" "0000316858" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "01943" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154082G>A" "" "pathogenic" "" "0000316859" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "01943" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154042C>T" "" "benign" "" "0000316860" "0" "10" "19" "55665404" "55665404" "subst" "0" "01943" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55154036G>A" "" "benign" "" "0000326806" "0" "30" "19" "55667607" "55667607" "subst" "0.00144663" "01804" "TNNI3_000021" "g.55667607G>A" "" "" "" "TNNI3(NM_000363.4):c.244C>T (p.P82S, p.(Pro82Ser)), TNNI3(NM_000363.5):c.244C>T (p.P82S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55156239G>A" "" "likely benign" "" "0000326807" "0" "30" "19" "55677785" "55677785" "subst" "0.000440964" "01804" "DNAAF3_000017" "g.55677785C>T" "" "" "" "DNAAF3(NM_001256714.1):c.138G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55166417C>T" "" "likely benign" "" "0000348060" "0" "70" "19" "55670785" "55670785" "dup" "0" "02327" "DNAAF3_000019" "g.55670785dup" "" "" "" "DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55159417dup" "" "likely pathogenic" "" "0000568467" "0" "50" "19" "55665325" "55665330" "del" "0" "02327" "DNAAF3_000020" "g.55665325_55665330del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153957_55153962del" "" "VUS" "" "0000568468" "0" "30" "19" "55665328" "55665329" "ins" "0" "02327" "DNAAF3_000021" "g.55665328_55665329insCTAGGC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55153960_55153961insCTAGGC" "" "likely benign" "" "0000568469" "0" "30" "19" "55665404" "55665404" "subst" "0" "02326" "TNNI3_000121" "g.55665404G>A" "" "" "" "TNNI3(NM_000363.4):c.543C>T (p.T181=), TNNI3(NM_000363.5):c.543C>T (p.T181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154036G>A" "" "likely benign" "" "0000568470" "0" "70" "19" "55665408" "55665408" "subst" "0" "02325" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "likely pathogenic" "" "0000568471" "0" "50" "19" "55665408" "55665408" "subst" "0" "02326" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154040T>C" "" "VUS" "" "0000568472" "0" "10" "19" "55665410" "55665410" "subst" "0.0652763" "02327" "TNNI3_000015" "g.55665410C>T" "" "" "" "TNNI3(NM_000363.4):c.537G>A (p.E179=), TNNI3(NM_000363.5):c.537G>A (p.E179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154042C>T" "" "benign" "" "0000568474" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02327" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154082G>A" "" "pathogenic" "" "0000568475" "0" "90" "19" "55665463" "55665463" "subst" "4.07067E-5" "02330" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "pathogenic" "" "0000568476" "0" "50" "19" "55665463" "55665463" "subst" "4.07067E-5" "01943" "TNNI3_000013" "g.55665463G>A" "" "" "" "TNNI3(NM_000363.4):c.484C>T (p.R162W), TNNI3(NM_000363.5):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154095G>A" "" "VUS" "" "0000568477" "0" "90" "19" "55665514" "55665514" "subst" "4.07242E-6" "02326" "TNNI3_000026" "g.55665514G>A" "" "" "" "TNNI3(NM_000363.4):c.433C>T (p.R145W), TNNI3(NM_000363.5):c.433C>T (p.R145W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154146G>A" "" "pathogenic" "" "0000568478" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02330" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000568479" "0" "70" "19" "55665526" "55665526" "subst" "0" "02330" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "likely pathogenic" "" "0000568480" "0" "50" "19" "55665526" "55665526" "subst" "0" "01943" "DNAAF3_000023" "g.55665526G>A" "" "" "" "TNNI3(NM_000363.4):c.421C>T (p.R141W), TNNI3(NM_000363.5):c.421C>T (p.R141W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154158G>A" "" "VUS" "" "0000568481" "0" "10" "19" "55665578" "55665578" "subst" "0" "02330" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "benign" "" "0000568482" "0" "30" "19" "55665578" "55665578" "subst" "0" "02327" "TNNI3_000135" "g.55665578G>A" "" "" "" "TNNI3(NM_000363.4):c.373-4C>T, TNNI3(NM_000363.5):c.373-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154210G>A" "" "likely benign" "" "0000568483" "0" "10" "19" "55665584" "55665584" "subst" "0.999984" "02327" "TNNI3_000150" "g.55665584A>C" "" "" "" "TNNI3(NM_000363.4):c.373-10T>G, TNNI3(NM_000363.5):c.373-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154216=" "" "benign" "" "0000568484" "0" "10" "19" "55665589" "55665589" "subst" "0.000289306" "02330" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "benign" "" "0000568485" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02327" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154221G>C" "" "likely benign" "" "0000568487" "0" "50" "19" "55666188" "55666188" "subst" "1.62513E-5" "02327" "DNAAF3_000026" "g.55666188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154820C>T" "" "VUS" "" "0000568488" "0" "50" "19" "55667615" "55667615" "subst" "3.7859E-5" "02330" "DNAAF3_000027" "g.55667615C>A" "" "" "" "TNNI3(NM_000363.5):c.236G>T (p.R79L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156247C>A" "" "VUS" "" "0000568489" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02327" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156248G>A" "" "likely benign" "" "0000568491" "0" "30" "19" "55667644" "55667644" "subst" "3.84625E-5" "02326" "DNAAF3_000029" "g.55667644G>C" "" "" "" "TNNI3(NM_000363.4):c.207C>G (p.R69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156276G>C" "" "likely benign" "" "0000568492" "0" "10" "19" "55667647" "55667647" "subst" "0.0407822" "02327" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156279C>A" "" "benign" "" "0000568493" "0" "10" "19" "55667653" "55667653" "subst" "0.00762901" "02327" "TNNI3_000148" "g.55667653C>T" "" "" "" "TNNI3(NM_000363.4):c.198G>A (p.E66=), TNNI3(NM_000363.5):c.198G>A (p.E66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156285C>T" "" "benign" "" "0000568494" "0" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "02330" "TNNI3_000073" "g.55667684A>G" "" "" "" "TNNI3(NM_000363.5):c.167T>C (p.I56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156316A>G" "" "VUS" "" "0000568495" "0" "50" "19" "55667705" "55667706" "ins" "0" "02330" "DNAAF3_000030" "g.55667705_55667706insCTA" "" "" "" "TNNI3(NM_000363.5):c.151-5_151-4insAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156337_55156338insCTA" "" "VUS" "" "0000568496" "0" "10" "19" "55667806" "55667806" "subst" "0" "02327" "DNAAF3_000031" "g.55667806T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156438T>C" "" "benign" "" "0000568497" "0" "30" "19" "55667927" "55667927" "subst" "0" "02327" "DNAAF3_000032" "g.55667927C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156559C>A" "" "likely benign" "" "0000568498" "0" "30" "19" "55667958" "55667958" "subst" "0.0181143" "02327" "TNNI3_000081" "g.55667958C>T" "" "" "" "TNNI3(NM_000363.4):c.150+13G>A, TNNI3(NM_000363.5):c.150+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156590C>T" "" "likely benign" "" "0000568499" "0" "50" "19" "55667982" "55667982" "subst" "4.6463E-5" "02327" "TNNI3_000082" "g.55667982A>G" "" "" "" "TNNI3(NM_000363.5):c.139T>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156614A>G" "" "VUS" "" "0000568500" "0" "50" "19" "55667994" "55667994" "subst" "0" "02326" "DNAAF3_000033" "g.55667994C>A" "" "" "" "TNNI3(NM_000363.4):c.127G>T (p.A43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156626C>A" "" "VUS" "" "0000568501" "0" "90" "19" "55668012" "55668012" "dup" "0" "01943" "DNAAF3_000034" "g.55668012dup" "" "" "" "TNNI3(NM_000363.4):c.114dupA (p.S39Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156644dup" "" "pathogenic" "" "0000568502" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02327" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156661G>T" "" "benign" "" "0000568503" "0" "30" "19" "55668049" "55668049" "subst" "0.000140108" "02327" "TNNI3_000003" "g.55668049G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156681G>A" "" "likely benign" "" "0000568504" "0" "10" "19" "55668310" "55668310" "subst" "0" "02327" "DNAAF3_000035" "g.55668310C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156942C>G" "" "benign" "" "0000568505" "0" "10" "19" "55668329" "55668329" "subst" "0" "02327" "DNAAF3_000036" "g.55668329C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156961C>T" "" "benign" "" "0000568506" "0" "30" "19" "55668384" "55668384" "subst" "3.03627E-5" "02327" "DNAAF3_000037" "g.55668384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157016G>A" "" "likely benign" "" "0000568507" "0" "10" "19" "55668397" "55668397" "subst" "0.0663405" "02327" "TNNI3_000001" "g.55668397C>T" "" "" "" "TNNI3(NM_000363.4):c.108+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157029C>T" "" "benign" "" "0000568508" "0" "30" "19" "55668471" "55668471" "subst" "3.56843E-5" "02326" "DNAAF3_000038" "g.55668471T>C" "" "" "" "TNNI3(NM_000363.4):c.55A>G (p.I19V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157103T>C" "" "likely benign" "" "0000568509" "0" "30" "19" "55668481" "55668481" "subst" "0" "02330" "DNAAF3_000039" "g.55668481T>G" "" "" "" "TNNI3(NM_000363.5):c.45A>C (p.A15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157113T>G" "" "likely benign" "" "0000568510" "0" "30" "19" "55668505" "55668505" "subst" "0.000171338" "01943" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157137G>A" "" "likely benign" "" "0000568511" "0" "10" "19" "55668509" "55668509" "subst" "0.316642" "02327" "TNNI3_000008" "g.55668509A>T" "" "" "" "TNNI3(NM_000363.4):c.25-8T>A, TNNI3(NM_000363.5):c.25-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157141A>T" "" "benign" "" "0000568512" "0" "10" "19" "55668511" "55668511" "subst" "0" "02327" "DNAAF3_000040" "g.55668511G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157143G>C" "" "benign" "" "0000568513" "0" "10" "19" "55668529" "55668529" "subst" "0" "02327" "DNAAF3_000041" "g.55668529C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157161C>G" "" "benign" "" "0000568514" "0" "10" "19" "55668725" "55668728" "dup" "0" "01943" "DNAAF3_000042" "g.55668725_55668728dup" "" "" "" "TNNI3(NM_000363.4):c.12-50_12-47dupACAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157357_55157360dup" "" "benign" "" "0000568516" "0" "10" "19" "55668803" "55668803" "subst" "0" "02327" "DNAAF3_000043" "g.55668803T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157435T>C" "" "benign" "" "0000568517" "0" "10" "19" "55668992" "55668992" "subst" "0.0196334" "02327" "TNNI3_000036" "g.55668992G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157624G>T" "" "benign" "" "0000568518" "0" "10" "19" "55669004" "55669004" "subst" "0.00689869" "02327" "TNNI3_000038" "g.55669004G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157636G>A" "" "benign" "" "0000568519" "0" "10" "19" "55669055" "55669055" "subst" "0.0104909" "02327" "DNAAF3_000044" "g.55669055G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157687G>T" "" "benign" "" "0000568520" "0" "30" "19" "55669140" "55669140" "del" "0" "02327" "DNAAF3_000045" "g.55669140del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157772del" "" "likely benign" "" "0000568521" "0" "30" "19" "55670651" "55670651" "subst" "0.00212085" "01804" "DNAAF3_000002" "g.55670651C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1606G>A (p.V536M), DNAAF3(NM_001256715.2):c.1405G>A (p.(Val469Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159283C>T" "" "likely benign" "" "0000568523" "0" "50" "19" "55670702" "55670702" "subst" "4.06177E-6" "02329" "DNAAF3_000046" "g.55670702C>G" "" "" "" "DNAAF3(NM_001256716.1):c.1192G>C (p.A398P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159334C>G" "" "VUS" "" "0000568524" "0" "90" "19" "55670785" "55670785" "dup" "0" "02329" "DNAAF3_000019" "g.55670785dup" "" "" "" "DNAAF3(NM_001256716.2):c.1109dupA (p.F372Ifs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159417dup" "" "pathogenic" "" "0000568525" "0" "30" "19" "55672055" "55672055" "subst" "0.0974433" "01943" "DNAAF3_000047" "g.55672055A>G" "" "" "" "DNAAF3(NM_001256714.1):c.1205T>C (p.L402P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55160687A>G" "" "likely benign" "" "0000568528" "0" "30" "19" "55673662" "55673662" "del" "0.0014966" "01804" "DNAAF3_000050" "g.55673662del" "" "" "" "DNAAF3(NM_001256714.1):c.527-4delG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55162294del" "" "likely benign" "" "0000568529" "0" "50" "19" "55673663" "55673663" "subst" "0" "01804" "DNAAF3_000051" "g.55673663G>T" "" "" "" "DNAAF3(NM_001256715.2):c.323-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55162295G>T" "" "VUS" "" "0000568530" "0" "30" "19" "55677776" "55677776" "subst" "0.00797525" "01943" "DNAAF3_000052" "g.55677776G>A" "" "" "" "DNAAF3(NM_001256714.1):c.147C>T (p.T49=), DNAAF3(NM_001256715.2):c.6C>T (p.(Thr2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55166408G>A" "" "likely benign" "" "0000568531" "0" "30" "19" "55677886" "55677886" "subst" "0.0021356" "01804" "DNAAF3_000018" "g.55677886C>A" "" "" "" "DNAAF3(NM_001256714.1):c.131G>T (p.W44L, p.(Trp44Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55166518C>A" "" "likely benign" "" "0000617876" "0" "50" "19" "55665519" "55665519" "subst" "4.07136E-5" "02327" "DNAAF3_000022" "g.55665519G>T" "" "" "" "TNNI3(NM_000363.5):c.428C>A (p.T143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154151G>T" "" "VUS" "" "0000617878" "0" "30" "19" "55665563" "55665563" "subst" "1.63592E-5" "02327" "DNAAF3_000053" "g.55665563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154195C>T" "" "likely benign" "" "0000617879" "0" "50" "19" "55666183" "55666183" "subst" "8.1248E-6" "02327" "DNAAF3_000054" "g.55666183G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154815G>A" "" "VUS" "" "0000617881" "0" "30" "19" "55667605" "55667605" "subst" "2.9376E-5" "02327" "DNAAF3_000055" "g.55667605C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156237C>A" "" "likely benign" "" "0000617882" "0" "50" "19" "55667634" "55667634" "subst" "8.46998E-6" "02330" "DNAAF3_000056" "g.55667634C>G" "" "" "" "TNNI3(NM_000363.4):c.217G>C (p.G73R), TNNI3(NM_000363.5):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156266C>G" "" "VUS" "" "0000617884" "0" "30" "19" "55668039" "55668039" "subst" "0" "02327" "DNAAF3_000058" "g.55668039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156671G>A" "" "likely benign" "" "0000617885" "0" "30" "19" "55668404" "55668405" "ins" "0" "02327" "DNAAF3_000059" "g.55668404_55668405insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157036_55157037insC" "" "likely benign" "" "0000617886" "0" "10" "19" "55668719" "55668722" "dup" "0" "02327" "TNNI3_000094" "g.55668719_55668722dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157351_55157354dup" "" "benign" "" "0000617887" "0" "30" "19" "55669073" "55669073" "subst" "0.000106593" "02327" "DNAAF3_000060" "g.55669073G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157705G>A" "" "likely benign" "" "0000617888" "0" "30" "19" "55670642" "55670642" "subst" "0.000365806" "02327" "DNAAF3_000061" "g.55670642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55159274C>T" "" "likely benign" "" "0000624090" "0" "10" "19" "55668029" "55668029" "subst" "0.0039672" "02326" "TNNI3_000002" "g.55668029G>T" "" "" "" "TNNI3(NM_000363.4):c.109-17C>A, TNNI3(NM_000363.5):c.109-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55156661G>T" "" "benign" "" "0000658665" "0" "90" "19" "55665438" "55665438" "subst" "0" "02326" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154070C>T" "" "pathogenic" "" "0000658666" "0" "90" "19" "55665439" "55665439" "subst" "0" "01943" "DNAAF3_000062" "g.55665439G>A" "" "" "" "TNNI3(NM_000363.4):c.508C>T (p.R170W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154071G>A" "" "pathogenic" "" "0000658667" "0" "70" "19" "55665525" "55665525" "subst" "0" "02326" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55154157C>T" "" "likely pathogenic" "" "0000658668" "0" "70" "19" "55668957" "55668957" "subst" "0" "01943" "DNAAF3_000063" "g.55668957T>C" "" "" "" "TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55157589T>C" "" "likely pathogenic" "" "0000681511" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "02330" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681512" "0" "10" "19" "55668505" "55668505" "subst" "0.000171338" "02330" "TNNI3_000089" "g.55668505G>A" "" "" "" "TNNI3(NM_000363.4):c.25-4C>T, TNNI3(NM_000363.5):c.25-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681513" "0" "30" "19" "55672151" "55672151" "subst" "0.00110814" "01804" "DNAAF3_000064" "g.55672151T>C" "" "" "" "DNAAF3(NM_001256714.1):c.1117-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692887" "0" "70" "19" "55665462" "55665462" "subst" "4.07024E-5" "01943" "TNNI3_000034" "g.55665462C>T" "" "" "" "TNNI3(NM_000363.4):c.485G>A (p.R162Q), TNNI3(NM_000363.5):c.485G>A (p.R162Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692888" "0" "30" "19" "55667706" "55667706" "subst" "6.69762E-5" "01943" "DNAAF3_000065" "g.55667706G>C" "" "" "" "TNNI3(NM_000363.4):c.151-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692889" "0" "50" "19" "55667978" "55667978" "subst" "2.92716E-5" "01943" "DNAAF3_000066" "g.55667978T>G" "" "" "" "TNNI3(NM_000363.4):c.143A>C (p.Q48P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692890" "0" "30" "19" "55670667" "55670667" "subst" "9.34344E-5" "01943" "DNAAF3_000067" "g.55670667G>T" "" "" "" "DNAAF3(NM_001256716.1):c.1227C>A (p.G409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692891" "0" "50" "19" "55672117" "55672117" "subst" "2.05672E-5" "02325" "DNAAF3_000068" "g.55672117G>T" "" "" "" "DNAAF3(NM_001256714.1):c.1143C>A (p.N381K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727529" "0" "90" "19" "55665477" "55665477" "subst" "0" "02330" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727530" "0" "50" "19" "55667972" "55667972" "subst" "0" "02330" "DNAAF3_000069" "g.55667972T>C" "" "" "" "TNNI3(NM_000363.5):c.149A>G (p.K50R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809053" "0" "50" "19" "55665398" "55665398" "subst" "0" "02325" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809054" "0" "50" "19" "55667990" "55667990" "subst" "0" "02330" "DNAAF3_000070" "g.55667990G>C" "" "" "" "TNNI3(NM_000363.5):c.131C>G (p.S44W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809055" "0" "50" "19" "55668501" "55668501" "subst" "0" "02330" "DNAAF3_000071" "g.55668501C>A" "" "" "" "TNNI3(NM_000363.5):c.25G>T (p.A9S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809056" "0" "30" "19" "55670772" "55670772" "subst" "3.65681E-5" "01943" "DNAAF3_000072" "g.55670772G>A" "" "" "" "DNAAF3(NM_001256716.1):c.1122C>T (p.T374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855698" "0" "70" "19" "55665408" "55665408" "subst" "0" "02327" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855699" "0" "10" "19" "55665463" "55665463" "subst" "0" "02330" "DNAAF3_000074" "g.55665463G>T" "" "" "" "TNNI3(NM_000363.5):c.484C>A (p.R162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855701" "0" "30" "19" "55666089" "55666089" "subst" "4.48474E-5" "02327" "DNAAF3_000075" "g.55666089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855702" "0" "30" "19" "55668020" "55668020" "subst" "0" "02327" "DNAAF3_000076" "g.55668020G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855703" "0" "50" "19" "55668410" "55668410" "subst" "3.05948E-5" "02327" "DNAAF3_000077" "g.55668410C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855704" "0" "70" "19" "55668957" "55668957" "subst" "0" "02330" "DNAAF3_000063" "g.55668957T>C" "" "" "" "TNNI3(NM_000363.4):c.1A>G (p.M1?), TNNI3(NM_000363.5):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866271" "0" "30" "19" "55665452" "55665452" "subst" "0" "01943" "DNAAF3_000073" "g.55665452C>A" "" "" "" "TNNI3(NM_000363.4):c.495G>T (p.E165D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895130" "0" "50" "19" "55665394" "55665397" "del" "0" "02330" "DNAAF3_000078" "g.55665394_55665397del" "" "" "" "TNNI3(NM_000363.5):c.549+4_549+7delAGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895131" "0" "50" "19" "55665456" "55665456" "subst" "0" "02330" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895132" "0" "90" "19" "55665462" "55665462" "subst" "0" "02325" "TNNI3_000047" "g.55665462C>G" "" "" "" "TNNI3(NM_000363.5):c.485G>C (p.R162P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895133" "0" "90" "19" "55665477" "55665477" "subst" "0" "02326" "TNNI3_000030" "g.55665477G>A" "" "" "" "TNNI3(NM_000363.4):c.470C>T (p.A157V), TNNI3(NM_000363.5):c.470C>T (p.A157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895134" "0" "90" "19" "55666189" "55666189" "subst" "6.50063E-5" "02330" "TNNI3_000111" "g.55666189G>A" "" "" "" "TNNI3(NM_000363.4):c.292C>T (p.R98*), TNNI3(NM_000363.5):c.292C>T (p.R98*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895135" "0" "30" "19" "55667578" "55667578" "subst" "0.000355387" "02326" "TNNI3_000141" "g.55667578C>T" "" "" "" "TNNI3(NM_000363.4):c.273G>A (p.A91=), TNNI3(NM_000363.5):c.273G>A (p.A91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895136" "0" "50" "19" "55667616" "55667616" "subst" "0.00044576" "02330" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895137" "0" "50" "19" "55667626" "55667626" "subst" "0" "02327" "DNAAF3_000079" "g.55667626A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895138" "0" "50" "19" "55667655" "55667655" "subst" "0" "02325" "DNAAF3_000080" "g.55667655C>T" "" "" "" "TNNI3(NM_000363.5):c.196G>A (p.E66K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895139" "0" "50" "19" "55668443" "55668443" "subst" "0" "02327" "DNAAF3_000081" "g.55668443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895140" "0" "30" "19" "55668684" "55668684" "del" "0" "02326" "TNNI3_000092" "g.55668684del" "" "" "" "TNNI3(NM_000363.4):c.12-7delC, TNNI3(NM_000363.5):c.12-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895141" "0" "50" "19" "55670762" "55670762" "subst" "8.12407E-6" "02325" "DNAAF3_000082" "g.55670762C>G" "" "" "" "DNAAF3(NM_001256714.1):c.1495G>C (p.E499Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915290" "0" "50" "19" "55666173" "55666173" "subst" "4.06217E-6" "02325" "DNAAF3_000083" "g.55666173C>A" "" "" "" "TNNI3(NM_000363.5):c.308G>T (p.R103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915291" "0" "50" "19" "55668489" "55668489" "subst" "0" "02330" "DNAAF3_000084" "g.55668489G>T" "" "" "" "TNNI3(NM_000363.5):c.37C>A (p.R13S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926942" "0" "70" "19" "55665408" "55665408" "subst" "0" "02330" "TNNI3_000062" "g.55665408T>C" "" "" "" "TNNI3(NM_000363.4):c.539A>G (p.D180G), TNNI3(NM_000363.5):c.539A>G (p.D180G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926943" "0" "50" "19" "55665456" "55665456" "subst" "0" "02326" "TNNI3_000069" "g.55665456T>G" "" "" "" "TNNI3(NM_000363.4):c.491A>C (p.K164T), TNNI3(NM_000363.5):c.491A>C (p.K164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926944" "0" "50" "19" "55667676" "55667676" "subst" "0" "02325" "DNAAF3_000085" "g.55667676G>C" "" "" "" "TNNI3(NM_000363.5):c.175C>G (p.Q59E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926945" "0" "50" "19" "55668437" "55668437" "subst" "0" "02326" "DNAAF3_000086" "g.55668437G>T" "" "" "" "TNNI3(NM_000363.4):c.89C>A (p.A30D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931106" "0" "70" "19" "55665398" "55665398" "subst" "0" "02330" "TNNI3_000072" "g.55665398C>G" "" "" "" "TNNI3(NM_000363.4):c.549G>C (p.K183N), TNNI3(NM_000363.5):c.549G>C (p.K183N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931107" "0" "90" "19" "55665417" "55665419" "del" "0" "02329" "TNNI3_000031" "g.55665417_55665419del" "" "" "" "TNNI3(NM_000363.5):c.532_534delAAG (p.K178del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951360" "0" "90" "19" "55665450" "55665450" "subst" "8.13935E-6" "02326" "TNNI3_000035" "g.55665450G>A" "" "" "" "TNNI3(NM_000363.4):c.497C>T (p.S166F), TNNI3(NM_000363.5):c.497C>T (p.S166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951361" "0" "90" "19" "55665525" "55665525" "subst" "0" "02330" "TNNI3_000029" "g.55665525C>T" "" "" "" "TNNI3(NM_000363.4):c.422G>A (p.R141Q), TNNI3(NM_000363.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951362" "0" "10" "19" "55665590" "55665590" "subst" "4.54835E-5" "02330" "DNAAF3_000087" "g.55665590G>A" "" "" "" "TNNI3(NM_000363.5):c.373-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969994" "0" "30" "19" "55665589" "55665589" "subst" "0.000289306" "02326" "DNAAF3_000024" "g.55665589G>C" "" "" "" "TNNI3(NM_000363.4):c.373-15C>G, TNNI3(NM_000363.5):c.373-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969995" "0" "10" "19" "55666151" "55666151" "subst" "0" "02330" "TNNI3_000139" "g.55666151C>T" "" "" "" "TNNI3(NM_000363.5):c.330G>A (p.E110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969996" "0" "30" "19" "55667616" "55667616" "subst" "0.00044576" "02325" "TNNI3_000007" "g.55667616G>A" "" "" "" "TNNI3(NM_000363.4):c.235C>T (p.R79C), TNNI3(NM_000363.5):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969997" "0" "50" "19" "55667634" "55667634" "subst" "8.46998E-6" "02326" "DNAAF3_000056" "g.55667634C>G" "" "" "" "TNNI3(NM_000363.4):c.217G>C (p.G73R), TNNI3(NM_000363.5):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969998" "0" "50" "19" "55667684" "55667684" "subst" "2.60396E-5" "02325" "TNNI3_000073" "g.55667684A>G" "" "" "" "TNNI3(NM_000363.5):c.167T>C (p.I56T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969999" "0" "10" "19" "55667956" "55667956" "subst" "0" "02330" "DNAAF3_000088" "g.55667956C>T" "" "" "" "TNNI3(NM_000363.5):c.150+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983657" "0" "90" "19" "55665438" "55665438" "subst" "0" "02327" "TNNI3_000056" "g.55665438C>T" "" "" "" "TNNI3(NM_000363.4):c.509G>A (p.R170Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983658" "0" "10" "19" "55667587" "55667587" "subst" "0" "02330" "DNAAF3_000089" "g.55667587C>T" "" "" "" "TNNI3(NM_000363.5):c.264G>A (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983659" "0" "30" "19" "55671257" "55671257" "subst" "0.00228548" "01804" "DNAAF3_000006" "g.55671257C>A" "" "" "" "DNAAF3(NM_001256714.1):c.1364+10G>T, DNAAF3(NM_001256715.2):c.1163+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983660" "0" "30" "19" "55672059" "55672059" "subst" "8.18532E-6" "01804" "DNAAF3_000090" "g.55672059C>T" "" "" "" "DNAAF3(NM_001256715.2):c.997G>A (p.(Asp333Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983661" "0" "50" "19" "55672096" "55672096" "subst" "1.64041E-5" "01804" "DNAAF3_000091" "g.55672096G>C" "" "" "" "DNAAF3(NM_001256715.2):c.960C>G (p.(Asp320Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983662" "0" "50" "19" "55672455" "55672455" "subst" "0.000150626" "01804" "DNAAF3_000092" "g.55672455G>A" "" "" "" "DNAAF3(NM_001256715.2):c.890C>T (p.(Thr297Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983663" "0" "50" "19" "55672494" "55672494" "subst" "6.90112E-6" "02327" "DNAAF3_000093" "g.55672494G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983664" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "01804" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983665" "0" "50" "19" "55673132" "55673133" "dup" "0" "01804" "DNAAF3_000094" "g.55673132_55673133dup" "" "" "" "DNAAF3(NM_001256715.2):c.543_544dup (p.(Gln182Profs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983666" "0" "30" "19" "55673654" "55673654" "subst" "0.0350278" "01804" "DNAAF3_000016" "g.55673654T>C" "" "" "" "DNAAF3(NM_001256714.1):c.531A>G (p.R177=), DNAAF3(NM_001256715.2):c.327A>G (p.(Arg109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983667" "0" "30" "19" "55677146" "55677146" "subst" "6.60458E-6" "01804" "DNAAF3_000095" "g.55677146G>C" "" "" "" "DNAAF3(NM_001256716.2):c.66+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005135" "0" "30" "19" "55667552" "55667552" "subst" "1.67595E-5" "02330" "DNAAF3_000096" "g.55667552T>A" "" "" "" "TNNI3(NM_000363.5):c.282+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005136" "0" "30" "19" "55667553" "55667553" "subst" "1.67583E-5" "02330" "DNAAF3_000097" "g.55667553C>A" "" "" "" "TNNI3(NM_000363.5):c.282+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005137" "0" "50" "19" "55668002" "55668002" "subst" "0" "02330" "DNAAF3_000098" "g.55668002T>A" "" "" "" "TNNI3(NM_000363.5):c.119A>T (p.K40M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005138" "0" "30" "19" "55670467" "55670467" "subst" "0.000992856" "01804" "DNAAF3_000099" "g.55670467G>A" "" "" "" "DNAAF3(NM_001256714.1):c.1790C>T (p.(Pro597Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027269" "0" "90" "19" "55667648" "55667648" "del" "0" "02330" "DNAAF3_000100" "g.55667648del" "" "" "" "TNNI3(NM_000363.5):c.204delG (p.R69Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027270" "0" "50" "19" "55667667" "55667667" "subst" "0" "02326" "DNAAF3_000101" "g.55667667C>T" "" "" "" "TNNI3(NM_000363.4):c.184G>A (p.E62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027271" "0" "50" "19" "55672492" "55672492" "subst" "0" "02329" "DNAAF3_000103" "g.55672492A>C" "" "" "" "DNAAF3(NM_001256714.1):c.1057T>G (p.F353V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027272" "0" "30" "19" "55672513" "55672513" "subst" "0.0016903" "02325" "DNAAF3_000011" "g.55672513C>T" "" "" "" "DNAAF3(NM_001256714.1):c.1036G>A (p.A346T, p.(Ala278Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027607" "3" "50" "19" "55672428" "55672428" "subst" "1.46043E-5" "00006" "DNAAF3_000102" "g.55672428C>G" "" "{PMID:Alsamri 2021:34768622}" "" "NM_001256714.1:c.1116+5G>C" "" "Germline" "" "" "0" "" "" "g.55161060C>G" "" "VUS" "" "0001027630" "0" "30" "19" "55677163" "55677163" "subst" "0.000825221" "00006" "DNAAF3_000105" "g.55677163A>C" "" "{PMID:Alsamri 2021:34768622}" "" "NM_001256716:c.53T>G (Ile18Ser)" "" "Germline" "" "rs537635826" "0" "" "" "g.55165795A>C" "" "likely benign" "" "0001027631" "0" "30" "19" "55670801" "55670801" "subst" "0.000252143" "00006" "DNAAF3_000104" "g.55670801G>A" "" "{PMID:Alsamri 2021:34768622}" "" "NM_001256714.1:c.1456C>T" "" "Germline" "" "rs201929981" "0" "" "" "g.55159433G>A" "" "likely benign" "" "0001043180" "0" "70" "19" "55665540" "55665540" "subst" "4.07671E-6" "02327" "TNNI3_000063" "g.55665540C>T" "" "" "" "TNNI3(NM_000363.5):c.407G>A (p.R136Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001043181" "0" "30" "19" "55667647" "55667647" "subst" "0.0407822" "01804" "TNNI3_000145" "g.55667647C>A" "" "" "" "TNNI3(NM_000363.4):c.204G>T (p.R68=), TNNI3(NM_000363.5):c.204G>T (p.R68=, p.(Arg68=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043182" "0" "50" "19" "55678021" "55678021" "subst" "2.86439E-5" "01804" "DNAAF3_000106" "g.55678021G>C" "" "" "" "DNAAF3(NM_001256714.1):c.-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056804" "0" "50" "19" "55666134" "55666134" "subst" "1.62487E-5" "01804" "TNNI3_000076" "g.55666134G>C" "" "" "" "TNNI3(NM_000363.5):c.347C>G (p.(Ala116Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056805" "0" "50" "19" "55670438" "55670438" "subst" "0" "01804" "DNAAF3_000107" "g.55670438C>T" "" "" "" "DNAAF3(NM_001256715.2):c.1618G>A (p.(Gly540Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056806" "0" "50" "19" "55670800" "55670800" "subst" "0.000203303" "01804" "DNAAF3_000108" "g.55670800C>T" "" "" "" "DNAAF3(NM_001256715.2):c.1256G>A (p.(Arg419Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056807" "0" "90" "19" "55672065" "55672065" "dup" "0" "01804" "DNAAF3_000109" "g.55672065dup" "" "" "" "DNAAF3(NM_001256715.2):c.997dup (p.(Asp333Glyfs*64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056808" "0" "50" "19" "55677710" "55677710" "subst" "8.18753E-5" "01804" "DNAAF3_000110" "g.55677710G>T" "" "" "" "DNAAF3(NM_001256715.2):c.72C>A (p.(Asp24Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056809" "0" "10" "19" "55677776" "55677776" "subst" "0.00797525" "01804" "DNAAF3_000052" "g.55677776G>A" "" "" "" "DNAAF3(NM_001256714.1):c.147C>T (p.T49=), DNAAF3(NM_001256715.2):c.6C>T (p.(Thr2=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 DNAAF3 ## Count = 489 "{{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}}" "0000247551" "00006515" "10" "3688" "0" "3688" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000247551" "00025980" "10" "3547" "0" "3547" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000247556" "00006515" "10" "6613" "0" "6613" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000247556" "00025980" "10" "6472" "0" "6472" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000247933" "00006515" "10" "3688" "0" "3688" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000247933" "00025980" "10" "3547" "0" "3547" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000247977" "00006515" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Ala269=)" "" "0000247977" "00025980" "10" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Ala222=)" "" "0000248255" "00006515" "10" "6613" "0" "6613" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000248255" "00025980" "10" "6472" "0" "6472" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000249413" "00006515" "30" "4215" "0" "4215" "0" "c.*2448T>C" "r.(=)" "p.(=)" "" "0000249413" "00025980" "30" "4074" "0" "4074" "0" "c.*2448T>C" "r.(=)" "p.(=)" "" "0000251701" "00006515" "30" "6613" "0" "6613" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000251701" "00025980" "30" "6472" "0" "6472" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000253194" "00006515" "10" "3688" "0" "3688" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000253194" "00025980" "10" "3547" "0" "3547" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000253238" "00006515" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(Ala269=)" "" "0000253238" "00025980" "10" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Ala222=)" "" "0000253940" "00006515" "10" "3378" "0" "3378" "0" "c.*1611T>C" "r.(=)" "p.(=)" "" "0000253940" "00025980" "10" "3237" "0" "3237" "0" "c.*1611T>C" "r.(=)" "p.(=)" "" "0000267435" "00006515" "10" "1305" "-116" "1305" "-116" "c.1305-116del" "r.(=)" "p.(=)" "" "0000267435" "00025980" "10" "1164" "-116" "1164" "-116" "c.1164-116del" "r.(=)" "p.(=)" "" "0000267436" "00006515" "10" "1380" "-8" "1380" "-8" "c.1380-8A>G" "r.(=)" "p.(=)" "" "0000267436" "00025980" "10" "1239" "-8" "1239" "-8" "c.1239-8A>G" "r.(=)" "p.(=)" "" "0000267437" "00006515" "10" "931" "-14" "931" "-14" "c.931-14C>T" "r.(=)" "p.(=)" "" "0000267437" "00025980" "10" "790" "-14" "790" "-14" "c.790-14C>T" "r.(=)" "p.(=)" "" "0000267438" "00006515" "10" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Glu339Gly)" "" "0000267438" "00025980" "10" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Glu292Gly)" "" "0000267439" "00006515" "10" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Pro399=)" "" "0000267439" "00025980" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Pro352=)" "" "0000267440" "00006515" "10" "1234" "0" "1234" "0" "c.1234=" "r.(=)" "p.(Asn412=)" "" "0000267440" "00025980" "10" "1093" "0" "1093" "0" "c.1093=" "r.(=)" "p.(Asn365=)" "" "0000275152" "00006515" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Ile324=)" "" "0000275152" "00025980" "30" "831" "0" "831" "0" "c.831C>T" "r.(?)" "p.(Ile277=)" "" "0000275153" "00006515" "30" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0000275153" "00025980" "30" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000275154" "00006515" "10" "1380" "-8" "1380" "-8" "c.1380-8A>G" "r.(=)" "p.(=)" "" "0000275154" "00025980" "10" "1239" "-8" "1239" "-8" "c.1239-8A>G" "r.(=)" "p.(=)" "" "0000275155" "00006515" "30" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Ile356=)" "" "0000275155" "00025980" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ile309=)" "" "0000275156" "00006515" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "" "0000275156" "00025980" "30" "-5" "5" "-5" "5" "c.-5+5G>T" "r.spl?" "p.?" "" "0000275157" "00006515" "50" "1304" "10" "1304" "10" "c.1304+10G>T" "r.(=)" "p.(=)" "" "0000275157" "00025980" "50" "1163" "10" "1163" "10" "c.1163+10G>T" "r.(=)" "p.(=)" "" "0000275158" "00006515" "10" "1305" "-14" "1305" "-14" "c.1305-14C>T" "r.(=)" "p.(=)" "" "0000275158" "00025980" "10" "1164" "-14" "1164" "-14" "c.1164-14C>T" "r.(=)" "p.(=)" "" "0000275159" "00006515" "30" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Gly562Ser)" "" "0000275159" "00025980" "30" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Gly515Ser)" "" "0000275160" "00006515" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Val516Met)" "" "0000275160" "00025980" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Met)" "" "0000275161" "00006515" "10" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Arg156=)" "" "0000275161" "00025980" "10" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Arg109=)" "" "0000275162" "00006515" "10" "931" "-14" "931" "-14" "c.931-14C>T" "r.(=)" "p.(=)" "" "0000275162" "00025980" "10" "790" "-14" "790" "-14" "c.790-14C>T" "r.(=)" "p.(=)" "" "0000275163" "00006515" "10" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Glu339Gly)" "" "0000275163" "00025980" "10" "875" "0" "875" "0" "c.875A>G" "r.(?)" "p.(Glu292Gly)" "" "0000275164" "00006515" "10" "651" "0" "651" "0" "c.651A>G" "r.(?)" "p.(Val217=)" "" "0000275164" "00025980" "10" "510" "0" "510" "0" "c.510A>G" "r.(?)" "p.(Val170=)" "" "0000275165" "00006515" "10" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Pro399=)" "" "0000275165" "00025980" "10" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Pro352=)" "" "0000275166" "00006515" "10" "1234" "0" "1234" "0" "c.1234=" "r.(=)" "p.(Asn412=)" "" "0000275166" "00025980" "10" "1093" "0" "1093" "0" "c.1093=" "r.(=)" "p.(Asn365=)" "" "0000309271" "00006515" "10" "4168" "0" "4168" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000309271" "00025980" "10" "4027" "0" "4027" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000309273" "00006515" "10" "3514" "0" "3514" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000309273" "00025980" "10" "3373" "0" "3373" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000309275" "00006515" "10" "4239" "0" "4239" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000309275" "00025980" "10" "4098" "0" "4098" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000309276" "00006515" "10" "4479" "0" "4480" "0" "c.*2712_*2713del" "r.(=)" "p.(=)" "" "0000309276" "00025980" "10" "4338" "0" "4339" "0" "c.*2712_*2713del" "r.(=)" "p.(=)" "" "0000309279" "00006515" "10" "4544" "0" "4544" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000309279" "00025980" "10" "4403" "0" "4403" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000309281" "00006515" "10" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000309281" "00025980" "10" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000309282" "00006515" "10" "4590" "0" "4590" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000309282" "00025980" "10" "4449" "0" "4449" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000309284" "00006515" "10" "4619" "0" "4619" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000309284" "00025980" "10" "4478" "0" "4478" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000309285" "00006515" "50" "6084" "0" "6084" "0" "c.*4317C>T" "r.(=)" "p.(=)" "" "0000309285" "00025980" "50" "5943" "0" "5943" "0" "c.*4317C>T" "r.(=)" "p.(=)" "" "0000309287" "00006515" "50" "6657" "0" "6657" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0000309287" "00025980" "50" "6516" "0" "6516" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0000309288" "00006515" "90" "6683" "0" "6683" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000309288" "00025980" "90" "6542" "0" "6542" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000309289" "00006515" "90" "6747" "0" "6747" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000309289" "00025980" "90" "6606" "0" "6606" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000309291" "00006515" "70" "6781" "0" "6781" "0" "c.*5014G>T" "r.(=)" "p.(=)" "" "0000309291" "00025980" "70" "6640" "0" "6640" "0" "c.*5014G>T" "r.(=)" "p.(=)" "" "0000309293" "00006515" "10" "6787" "0" "6787" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000309293" "00025980" "10" "6646" "0" "6646" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000309294" "00006515" "10" "6793" "0" "6793" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000309294" "00025980" "10" "6652" "0" "6652" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000311929" "00006515" "30" "4168" "0" "4168" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000311929" "00025980" "30" "4027" "0" "4027" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000311930" "00006515" "10" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000311930" "00025980" "10" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000311931" "00006515" "30" "4590" "0" "4590" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000311931" "00025980" "30" "4449" "0" "4449" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000311932" "00006515" "70" "6008" "0" "6008" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000311932" "00025980" "70" "5867" "0" "5867" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000311933" "00006515" "30" "6046" "0" "6046" "0" "c.*4279G>A" "r.(=)" "p.(=)" "" "0000311933" "00025980" "30" "5905" "0" "5905" "0" "c.*4279G>A" "r.(=)" "p.(=)" "" "0000311934" "00006515" "90" "6683" "0" "6683" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000311934" "00025980" "90" "6542" "0" "6542" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000311935" "00006515" "90" "6684" "0" "6684" "0" "c.*4917G>A" "r.(=)" "p.(=)" "" "0000311935" "00025980" "90" "6543" "0" "6543" "0" "c.*4917G>A" "r.(=)" "p.(=)" "" "0000311936" "00006515" "70" "6735" "0" "6735" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000311936" "00025980" "70" "6594" "0" "6594" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000311937" "00006515" "90" "6747" "0" "6747" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000311937" "00025980" "90" "6606" "0" "6606" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000311938" "00006515" "10" "6787" "0" "6787" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000311938" "00025980" "10" "6646" "0" "6646" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000314725" "00006515" "10" "4544" "0" "4544" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000314725" "00025980" "10" "4403" "0" "4403" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000314726" "00006515" "10" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000314726" "00025980" "10" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000314727" "00006515" "30" "4581" "0" "4581" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000314727" "00025980" "30" "4440" "0" "4440" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000314728" "00006515" "10" "4590" "0" "4590" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000314728" "00025980" "10" "4449" "0" "4449" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000314729" "00006515" "30" "3692" "0" "3692" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000314729" "00025980" "30" "3551" "0" "3551" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000314730" "00006515" "50" "6008" "0" "6008" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000314730" "00025980" "50" "5867" "0" "5867" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000314731" "00006515" "30" "6619" "0" "6619" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000314731" "00025980" "30" "6478" "0" "6478" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000314732" "00006515" "70" "6657" "0" "6657" "0" "c.*4890G>C" "r.(=)" "p.(=)" "" "0000314732" "00025980" "70" "6516" "0" "6516" "0" "c.*4890G>C" "r.(=)" "p.(=)" "" "0000314733" "00006515" "70" "6743" "0" "6743" "0" "c.*4976G>A" "r.(=)" "p.(=)" "" "0000314733" "00025980" "70" "6602" "0" "6602" "0" "c.*4976G>A" "r.(=)" "p.(=)" "" "0000314734" "00006515" "90" "6799" "0" "6799" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000314734" "00025980" "90" "6658" "0" "6658" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000314735" "00006515" "50" "3739" "0" "3739" "0" "c.*1972C>G" "r.(=)" "p.(=)" "" "0000314735" "00025980" "50" "3598" "0" "3598" "0" "c.*1972C>G" "r.(=)" "p.(=)" "" "0000314736" "00006515" "70" "3759" "0" "3759" "0" "c.*1992G>A" "r.(=)" "p.(=)" "" "0000314736" "00025980" "70" "3618" "0" "3618" "0" "c.*1992G>A" "r.(=)" "p.(=)" "" "0000316838" "00006515" "10" "3800" "0" "3800" "0" "c.*2033G>A" "r.(=)" "p.(=)" "" "0000316838" "00025980" "10" "3659" "0" "3659" "0" "c.*2033G>A" "r.(=)" "p.(=)" "" "0000316839" "00006515" "10" "4168" "0" "4168" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000316839" "00025980" "10" "4027" "0" "4027" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000316841" "00006515" "10" "3493" "0" "3494" "0" "c.*1726_*1727delinsT" "r.(=)" "p.(=)" "" "0000316841" "00025980" "10" "3352" "0" "3353" "0" "c.*1726_*1727delinsT" "r.(=)" "p.(=)" "" "0000316843" "00006515" "10" "3514" "0" "3514" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000316843" "00025980" "10" "3373" "0" "3373" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000316844" "00006515" "10" "4239" "0" "4239" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000316844" "00025980" "10" "4098" "0" "4098" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000316845" "00006515" "10" "4544" "0" "4544" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000316845" "00025980" "10" "4403" "0" "4403" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000316846" "00006515" "10" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000316846" "00025980" "10" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000316847" "00006515" "50" "4576" "0" "4577" "0" "c.*2809_*2810delinsTT" "r.(=)" "p.(=)" "" "0000316847" "00025980" "50" "4435" "0" "4436" "0" "c.*2809_*2810delinsTT" "r.(=)" "p.(=)" "" "0000316848" "00006515" "10" "4590" "0" "4590" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000316848" "00025980" "10" "4449" "0" "4449" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000316849" "00006515" "30" "4619" "0" "4619" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000316849" "00025980" "30" "4478" "0" "4478" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000316850" "00006515" "10" "5990" "0" "5990" "0" "c.*4223C>T" "r.(=)" "p.(=)" "" "0000316850" "00025980" "10" "5849" "0" "5849" "0" "c.*4223C>T" "r.(=)" "p.(=)" "" "0000316851" "00006515" "90" "6008" "0" "6008" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000316851" "00025980" "90" "5867" "0" "5867" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000316852" "00006515" "10" "6114" "0" "6114" "0" "c.*4347C>T" "r.(=)" "p.(=)" "" "0000316852" "00025980" "10" "5973" "0" "5973" "0" "c.*4347C>T" "r.(=)" "p.(=)" "" "0000316853" "00006515" "30" "6619" "0" "6619" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000316853" "00025980" "30" "6478" "0" "6478" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000316854" "00006515" "50" "6626" "0" "6626" "0" "c.*4859G>A" "r.(=)" "p.(=)" "" "0000316854" "00025980" "50" "6485" "0" "6485" "0" "c.*4859G>A" "r.(=)" "p.(=)" "" "0000316855" "00006515" "90" "6683" "0" "6683" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000316855" "00025980" "90" "6542" "0" "6542" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000316856" "00006515" "90" "6720" "0" "6720" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000316856" "00025980" "90" "6579" "0" "6579" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000316857" "00006515" "50" "6741" "0" "6741" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000316857" "00025980" "50" "6600" "0" "6600" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000316858" "00006515" "90" "6747" "0" "6747" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000316858" "00025980" "90" "6606" "0" "6606" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000316859" "00006515" "10" "6787" "0" "6787" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000316859" "00025980" "10" "6646" "0" "6646" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000316860" "00006515" "10" "6793" "0" "6793" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000316860" "00025980" "10" "6652" "0" "6652" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000326806" "00006515" "30" "4590" "0" "4590" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000326806" "00025980" "30" "4449" "0" "4449" "0" "c.*2823C>T" "r.(=)" "p.(=)" "" "0000326807" "00006515" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Arg46=)" "" "0000326807" "00025980" "30" "-4" "0" "-4" "0" "c.-4G>A" "r.(?)" "p.(=)" "" "0000348060" "00006515" "70" "1412" "0" "1412" "0" "c.1412dup" "r.(?)" "p.(Phe473IlefsTer52)" "" "0000348060" "00025980" "70" "1271" "0" "1271" "0" "c.1271dup" "r.(?)" "p.(Phe426IlefsTer52)" "" "0000568467" "00006515" "50" "6868" "0" "6873" "0" "c.*5101_*5106del" "r.(=)" "p.(=)" "" "0000568467" "00025980" "50" "6727" "0" "6732" "0" "c.*5101_*5106del" "r.(=)" "p.(=)" "" "0000568468" "00006515" "30" "6868" "0" "6869" "0" "c.*5101_*5102insGCCTAG" "r.(=)" "p.(=)" "" "0000568468" "00025980" "30" "6727" "0" "6728" "0" "c.*5101_*5102insGCCTAG" "r.(=)" "p.(=)" "" "0000568469" "00006515" "30" "6793" "0" "6793" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000568469" "00025980" "30" "6652" "0" "6652" "0" "c.*5026C>T" "r.(=)" "p.(=)" "" "0000568470" "00006515" "70" "6789" "0" "6789" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000568470" "00025980" "70" "6648" "0" "6648" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000568471" "00006515" "50" "6789" "0" "6789" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000568471" "00025980" "50" "6648" "0" "6648" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000568472" "00006515" "10" "6787" "0" "6787" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000568472" "00025980" "10" "6646" "0" "6646" "0" "c.*5020G>A" "r.(=)" "p.(=)" "" "0000568474" "00006515" "90" "6747" "0" "6747" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000568474" "00025980" "90" "6606" "0" "6606" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000568475" "00006515" "90" "6734" "0" "6734" "0" "c.*4967C>T" "r.(=)" "p.(=)" "" "0000568475" "00025980" "90" "6593" "0" "6593" "0" "c.*4967C>T" "r.(=)" "p.(=)" "" "0000568476" "00006515" "50" "6734" "0" "6734" "0" "c.*4967C>T" "r.(=)" "p.(=)" "" "0000568476" "00025980" "50" "6593" "0" "6593" "0" "c.*4967C>T" "r.(=)" "p.(=)" "" "0000568477" "00006515" "90" "6683" "0" "6683" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000568477" "00025980" "90" "6542" "0" "6542" "0" "c.*4916C>T" "r.(=)" "p.(=)" "" "0000568478" "00006515" "50" "6678" "0" "6678" "0" "c.*4911C>A" "r.(=)" "p.(=)" "" "0000568478" "00025980" "50" "6537" "0" "6537" "0" "c.*4911C>A" "r.(=)" "p.(=)" "" "0000568479" "00006515" "70" "6671" "0" "6671" "0" "c.*4904C>T" "r.(=)" "p.(=)" "" "0000568479" "00025980" "70" "6530" "0" "6530" "0" "c.*4904C>T" "r.(=)" "p.(=)" "" "0000568480" "00006515" "50" "6671" "0" "6671" "0" "c.*4904C>T" "r.(=)" "p.(=)" "" "0000568480" "00025980" "50" "6530" "0" "6530" "0" "c.*4904C>T" "r.(=)" "p.(=)" "" "0000568481" "00006515" "10" "6619" "0" "6619" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000568481" "00025980" "10" "6478" "0" "6478" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000568482" "00006515" "30" "6619" "0" "6619" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000568482" "00025980" "30" "6478" "0" "6478" "0" "c.*4852C>T" "r.(=)" "p.(=)" "" "0000568483" "00006515" "10" "6613" "0" "6613" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000568483" "00025980" "10" "6472" "0" "6472" "0" "c.*4846T>G" "r.(=)" "p.(=)" "" "0000568484" "00006515" "10" "6608" "0" "6608" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000568484" "00025980" "10" "6467" "0" "6467" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000568485" "00006515" "30" "6608" "0" "6608" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000568485" "00025980" "30" "6467" "0" "6467" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000568487" "00006515" "50" "6009" "0" "6009" "0" "c.*4242G>A" "r.(=)" "p.(=)" "" "0000568487" "00025980" "50" "5868" "0" "5868" "0" "c.*4242G>A" "r.(=)" "p.(=)" "" "0000568488" "00006515" "50" "4582" "0" "4582" "0" "c.*2815G>T" "r.(=)" "p.(=)" "" "0000568488" "00025980" "50" "4441" "0" "4441" "0" "c.*2815G>T" "r.(=)" "p.(=)" "" "0000568489" "00006515" "30" "4581" "0" "4581" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000568489" "00025980" "30" "4440" "0" "4440" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000568491" "00006515" "30" "4553" "0" "4553" "0" "c.*2786C>G" "r.(=)" "p.(=)" "" "0000568491" "00025980" "30" "4412" "0" "4412" "0" "c.*2786C>G" "r.(=)" "p.(=)" "" "0000568492" "00006515" "10" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000568492" "00025980" "10" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0000568493" "00006515" "10" "4544" "0" "4544" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000568493" "00025980" "10" "4403" "0" "4403" "0" "c.*2777G>A" "r.(=)" "p.(=)" "" "0000568494" "00006515" "50" "4513" "0" "4513" "0" "c.*2746T>C" "r.(=)" "p.(=)" "" "0000568494" "00025980" "50" "4372" "0" "4372" "0" "c.*2746T>C" "r.(=)" "p.(=)" "" "0000568495" "00006515" "50" "4492" "0" "4493" "0" "c.*2725_*2726insAGT" "r.(=)" "p.(=)" "" "0000568495" "00025980" "50" "4351" "0" "4352" "0" "c.*2725_*2726insAGT" "r.(=)" "p.(=)" "" "0000568496" "00006515" "10" "4391" "0" "4391" "0" "c.*2624A>G" "r.(=)" "p.(=)" "" "0000568496" "00025980" "10" "4250" "0" "4250" "0" "c.*2624A>G" "r.(=)" "p.(=)" "" "0000568497" "00006515" "30" "4270" "0" "4270" "0" "c.*2503G>T" "r.(=)" "p.(=)" "" "0000568497" "00025980" "30" "4129" "0" "4129" "0" "c.*2503G>T" "r.(=)" "p.(=)" "" "0000568498" "00006515" "30" "4239" "0" "4239" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000568498" "00025980" "30" "4098" "0" "4098" "0" "c.*2472G>A" "r.(=)" "p.(=)" "" "0000568499" "00006515" "50" "4215" "0" "4215" "0" "c.*2448T>C" "r.(=)" "p.(=)" "" "0000568499" "00025980" "50" "4074" "0" "4074" "0" "c.*2448T>C" "r.(=)" "p.(=)" "" "0000568500" "00006515" "50" "4203" "0" "4203" "0" "c.*2436G>T" "r.(=)" "p.(=)" "" "0000568500" "00025980" "50" "4062" "0" "4062" "0" "c.*2436G>T" "r.(=)" "p.(=)" "" "0000568501" "00006515" "90" "4190" "0" "4190" "0" "c.*2423dup" "r.(?)" "p.(=)" "" "0000568501" "00025980" "90" "4049" "0" "4049" "0" "c.*2423dup" "r.(?)" "p.(=)" "" "0000568502" "00006515" "10" "4168" "0" "4168" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000568502" "00025980" "10" "4027" "0" "4027" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000568503" "00006515" "30" "4148" "0" "4148" "0" "c.*2381C>T" "r.(=)" "p.(=)" "" "0000568503" "00025980" "30" "4007" "0" "4007" "0" "c.*2381C>T" "r.(=)" "p.(=)" "" "0000568504" "00006515" "10" "3887" "0" "3887" "0" "c.*2120G>C" "r.(=)" "p.(=)" "" "0000568504" "00025980" "10" "3746" "0" "3746" "0" "c.*2120G>C" "r.(=)" "p.(=)" "" "0000568505" "00006515" "10" "3868" "0" "3868" "0" "c.*2101G>A" "r.(=)" "p.(=)" "" "0000568505" "00025980" "10" "3727" "0" "3727" "0" "c.*2101G>A" "r.(=)" "p.(=)" "" "0000568506" "00006515" "30" "3813" "0" "3813" "0" "c.*2046C>T" "r.(=)" "p.(=)" "" "0000568506" "00025980" "30" "3672" "0" "3672" "0" "c.*2046C>T" "r.(=)" "p.(=)" "" "0000568507" "00006515" "10" "3800" "0" "3800" "0" "c.*2033G>A" "r.(=)" "p.(=)" "" "0000568507" "00025980" "10" "3659" "0" "3659" "0" "c.*2033G>A" "r.(=)" "p.(=)" "" "0000568508" "00006515" "30" "3726" "0" "3726" "0" "c.*1959A>G" "r.(=)" "p.(=)" "" "0000568508" "00025980" "30" "3585" "0" "3585" "0" "c.*1959A>G" "r.(=)" "p.(=)" "" "0000568509" "00006515" "30" "3716" "0" "3716" "0" "c.*1949A>C" "r.(=)" "p.(=)" "" "0000568509" "00025980" "30" "3575" "0" "3575" "0" "c.*1949A>C" "r.(=)" "p.(=)" "" "0000568510" "00006515" "30" "3692" "0" "3692" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000568510" "00025980" "30" "3551" "0" "3551" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000568511" "00006515" "10" "3688" "0" "3688" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000568511" "00025980" "10" "3547" "0" "3547" "0" "c.*1921T>A" "r.(=)" "p.(=)" "" "0000568512" "00006515" "10" "3686" "0" "3686" "0" "c.*1919C>G" "r.(=)" "p.(=)" "" "0000568512" "00025980" "10" "3545" "0" "3545" "0" "c.*1919C>G" "r.(=)" "p.(=)" "" "0000568513" "00006515" "10" "3668" "0" "3668" "0" "c.*1901G>C" "r.(=)" "p.(=)" "" "0000568513" "00025980" "10" "3527" "0" "3527" "0" "c.*1901G>C" "r.(=)" "p.(=)" "" "0000568514" "00006515" "10" "3471" "0" "3474" "0" "c.*1704_*1707dup" "r.(=)" "p.(=)" "" "0000568514" "00025980" "10" "3330" "0" "3333" "0" "c.*1704_*1707dup" "r.(=)" "p.(=)" "" "0000568516" "00006515" "10" "3394" "0" "3394" "0" "c.*1627A>G" "r.(=)" "p.(=)" "" "0000568516" "00025980" "10" "3253" "0" "3253" "0" "c.*1627A>G" "r.(=)" "p.(=)" "" "0000568517" "00006515" "10" "3205" "0" "3205" "0" "c.*1438C>A" "r.(=)" "p.(=)" "" "0000568517" "00025980" "10" "3064" "0" "3064" "0" "c.*1438C>A" "r.(=)" "p.(=)" "" "0000568518" "00006515" "10" "3193" "0" "3193" "0" "c.*1426C>T" "r.(=)" "p.(=)" "" "0000568518" "00025980" "10" "3052" "0" "3052" "0" "c.*1426C>T" "r.(=)" "p.(=)" "" "0000568519" "00006515" "10" "3142" "0" "3142" "0" "c.*1375C>A" "r.(=)" "p.(=)" "" "0000568519" "00025980" "10" "3001" "0" "3001" "0" "c.*1375C>A" "r.(=)" "p.(=)" "" "0000568520" "00006515" "30" "3058" "0" "3058" "0" "c.*1291del" "r.(?)" "p.(=)" "" "0000568520" "00025980" "30" "2917" "0" "2917" "0" "c.*1291del" "r.(?)" "p.(=)" "" "0000568521" "00006515" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Val516Met)" "" "0000568521" "00025980" "30" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Met)" "" "0000568523" "00006515" "50" "1495" "0" "1495" "0" "c.1495G>C" "r.(?)" "p.(Ala499Pro)" "" "0000568523" "00025980" "50" "1354" "0" "1354" "0" "c.1354G>C" "r.(?)" "p.(Ala452Pro)" "" "0000568524" "00006515" "90" "1412" "0" "1412" "0" "c.1412dup" "r.(?)" "p.(Phe473IlefsTer52)" "" "0000568524" "00025980" "90" "1271" "0" "1271" "0" "c.1271dup" "r.(?)" "p.(Phe426IlefsTer52)" "" "0000568525" "00006515" "30" "1142" "0" "1142" "0" "c.1142T>C" "r.(?)" "p.(Leu381Pro)" "" "0000568525" "00025980" "30" "1001" "0" "1001" "0" "c.1001T>C" "r.(?)" "p.(Leu334Pro)" "" "0000568528" "00006515" "30" "464" "-4" "464" "-4" "c.464-4del" "r.spl?" "p.?" "" "0000568528" "00025980" "30" "323" "-4" "323" "-4" "c.323-4del" "r.spl?" "p.?" "" "0000568529" "00006515" "50" "464" "-5" "464" "-5" "c.464-5C>A" "r.spl?" "p.?" "" "0000568529" "00025980" "50" "323" "-5" "323" "-5" "c.323-5C>A" "r.spl?" "p.?" "" "0000568530" "00006515" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Thr49=)" "" "0000568530" "00025980" "30" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(Thr2=)" "" "0000568531" "00006515" "30" "131" "0" "131" "0" "c.131G>T" "r.(?)" "p.(Trp44Leu)" "" "0000568531" "00025980" "30" "-5" "5" "-5" "5" "c.-5+5G>T" "r.spl?" "p.?" "" "0000617876" "00006515" "50" "6678" "0" "6678" "0" "c.*4911C>A" "r.(=)" "p.(=)" "" "0000617876" "00025980" "50" "6537" "0" "6537" "0" "c.*4911C>A" "r.(=)" "p.(=)" "" "0000617878" "00006515" "30" "6634" "0" "6634" "0" "c.*4867G>A" "r.(=)" "p.(=)" "" "0000617878" "00025980" "30" "6493" "0" "6493" "0" "c.*4867G>A" "r.(=)" "p.(=)" "" "0000617879" "00006515" "50" "6014" "0" "6014" "0" "c.*4247C>T" "r.(=)" "p.(=)" "" "0000617879" "00025980" "50" "5873" "0" "5873" "0" "c.*4247C>T" "r.(=)" "p.(=)" "" "0000617881" "00006515" "30" "4592" "0" "4592" "0" "c.*2825G>T" "r.(=)" "p.(=)" "" "0000617881" "00025980" "30" "4451" "0" "4451" "0" "c.*2825G>T" "r.(=)" "p.(=)" "" "0000617882" "00006515" "50" "4563" "0" "4563" "0" "c.*2796G>C" "r.(=)" "p.(=)" "" "0000617882" "00025980" "50" "4422" "0" "4422" "0" "c.*2796G>C" "r.(=)" "p.(=)" "" "0000617884" "00006515" "30" "4158" "0" "4158" "0" "c.*2391C>T" "r.(=)" "p.(=)" "" "0000617884" "00025980" "30" "4017" "0" "4017" "0" "c.*2391C>T" "r.(=)" "p.(=)" "" "0000617885" "00006515" "30" "3792" "0" "3793" "0" "c.*2025_*2026insG" "r.(=)" "p.(=)" "" "0000617885" "00025980" "30" "3651" "0" "3652" "0" "c.*2025_*2026insG" "r.(=)" "p.(=)" "" "0000617886" "00006515" "10" "3475" "0" "3478" "0" "c.*1708_*1711dup" "r.(=)" "p.(=)" "" "0000617886" "00025980" "10" "3334" "0" "3337" "0" "c.*1708_*1711dup" "r.(=)" "p.(=)" "" "0000617887" "00006515" "30" "3124" "0" "3124" "0" "c.*1357C>T" "r.(=)" "p.(=)" "" "0000617887" "00025980" "30" "2983" "0" "2983" "0" "c.*1357C>T" "r.(=)" "p.(=)" "" "0000617888" "00006515" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Gly519Arg)" "" "0000617888" "00025980" "30" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Arg)" "" "0000624090" "00006515" "10" "4168" "0" "4168" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000624090" "00025980" "10" "4027" "0" "4027" "0" "c.*2401C>A" "r.(=)" "p.(=)" "" "0000658665" "00006515" "90" "6759" "0" "6759" "0" "c.*4992G>A" "r.(=)" "p.(=)" "" "0000658665" "00025980" "90" "6618" "0" "6618" "0" "c.*4992G>A" "r.(=)" "p.(=)" "" "0000658666" "00006515" "90" "6758" "0" "6758" "0" "c.*4991C>T" "r.(=)" "p.(=)" "" "0000658666" "00025980" "90" "6617" "0" "6617" "0" "c.*4991C>T" "r.(=)" "p.(=)" "" "0000658667" "00006515" "70" "6672" "0" "6672" "0" "c.*4905G>A" "r.(=)" "p.(=)" "" "0000658667" "00025980" "70" "6531" "0" "6531" "0" "c.*4905G>A" "r.(=)" "p.(=)" "" "0000658668" "00006515" "70" "3240" "0" "3240" "0" "c.*1473A>G" "r.(=)" "p.(=)" "" "0000658668" "00025980" "70" "3099" "0" "3099" "0" "c.*1473A>G" "r.(=)" "p.(=)" "" "0000681511" "00006515" "70" "6735" "0" "6735" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000681511" "00025980" "70" "6594" "0" "6594" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000681512" "00006515" "10" "3692" "0" "3692" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000681512" "00025980" "10" "3551" "0" "3551" "0" "c.*1925C>T" "r.(=)" "p.(=)" "" "0000681513" "00006515" "30" "1054" "-8" "1054" "-8" "c.1054-8A>G" "r.(=)" "p.(=)" "" "0000681513" "00025980" "30" "913" "-8" "913" "-8" "c.913-8A>G" "r.(=)" "p.(=)" "" "0000692887" "00006515" "70" "6735" "0" "6735" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000692887" "00025980" "70" "6594" "0" "6594" "0" "c.*4968G>A" "r.(=)" "p.(=)" "" "0000692888" "00006515" "30" "4491" "0" "4491" "0" "c.*2724C>G" "r.(=)" "p.(=)" "" "0000692888" "00025980" "30" "4350" "0" "4350" "0" "c.*2724C>G" "r.(=)" "p.(=)" "" "0000692889" "00006515" "50" "4219" "0" "4219" "0" "c.*2452A>C" "r.(=)" "p.(=)" "" "0000692889" "00025980" "50" "4078" "0" "4078" "0" "c.*2452A>C" "r.(=)" "p.(=)" "" "0000692890" "00006515" "30" "1530" "0" "1530" "0" "c.1530C>A" "r.(?)" "p.(Gly510=)" "" "0000692890" "00025980" "30" "1389" "0" "1389" "0" "c.1389C>A" "r.(?)" "p.(Gly463=)" "" "0000692891" "00006515" "50" "1080" "0" "1080" "0" "c.1080C>A" "r.(?)" "p.(Asn360Lys)" "" "0000692891" "00025980" "50" "939" "0" "939" "0" "c.939C>A" "r.(?)" "p.(Asn313Lys)" "" "0000727529" "00006515" "90" "6720" "0" "6720" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000727529" "00025980" "90" "6579" "0" "6579" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000727530" "00006515" "50" "4225" "0" "4225" "0" "c.*2458A>G" "r.(=)" "p.(=)" "" "0000727530" "00025980" "50" "4084" "0" "4084" "0" "c.*2458A>G" "r.(=)" "p.(=)" "" "0000809053" "00006515" "50" "6799" "0" "6799" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000809053" "00025980" "50" "6658" "0" "6658" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000809054" "00006515" "50" "4207" "0" "4207" "0" "c.*2440C>G" "r.(=)" "p.(=)" "" "0000809054" "00025980" "50" "4066" "0" "4066" "0" "c.*2440C>G" "r.(=)" "p.(=)" "" "0000809055" "00006515" "50" "3696" "0" "3696" "0" "c.*1929G>T" "r.(=)" "p.(=)" "" "0000809055" "00025980" "50" "3555" "0" "3555" "0" "c.*1929G>T" "r.(=)" "p.(=)" "" "0000809056" "00006515" "30" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Thr475=)" "" "0000809056" "00025980" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Thr428=)" "" "0000855698" "00006515" "70" "6789" "0" "6789" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000855698" "00025980" "70" "6648" "0" "6648" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000855699" "00006515" "10" "6734" "0" "6734" "0" "c.*4967C>A" "r.(=)" "p.(=)" "" "0000855699" "00025980" "10" "6593" "0" "6593" "0" "c.*4967C>A" "r.(=)" "p.(=)" "" "0000855701" "00006515" "30" "6108" "0" "6108" "0" "c.*4341C>T" "r.(=)" "p.(=)" "" "0000855701" "00025980" "30" "5967" "0" "5967" "0" "c.*4341C>T" "r.(=)" "p.(=)" "" "0000855702" "00006515" "30" "4177" "0" "4177" "0" "c.*2410C>A" "r.(=)" "p.(=)" "" "0000855702" "00025980" "30" "4036" "0" "4036" "0" "c.*2410C>A" "r.(=)" "p.(=)" "" "0000855703" "00006515" "50" "3787" "0" "3787" "0" "c.*2020G>T" "r.(=)" "p.(=)" "" "0000855703" "00025980" "50" "3646" "0" "3646" "0" "c.*2020G>T" "r.(=)" "p.(=)" "" "0000855704" "00006515" "70" "3240" "0" "3240" "0" "c.*1473A>G" "r.(=)" "p.(=)" "" "0000855704" "00025980" "70" "3099" "0" "3099" "0" "c.*1473A>G" "r.(=)" "p.(=)" "" "0000866271" "00006515" "30" "6745" "0" "6745" "0" "c.*4978G>T" "r.(=)" "p.(=)" "" "0000866271" "00025980" "30" "6604" "0" "6604" "0" "c.*4978G>T" "r.(=)" "p.(=)" "" "0000895130" "00006515" "50" "6803" "0" "6806" "0" "c.*5036_*5039del" "r.(=)" "p.(=)" "" "0000895130" "00025980" "50" "6662" "0" "6665" "0" "c.*5036_*5039del" "r.(=)" "p.(=)" "" "0000895131" "00006515" "50" "6741" "0" "6741" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000895131" "00025980" "50" "6600" "0" "6600" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000895132" "00006515" "90" "6735" "0" "6735" "0" "c.*4968G>C" "r.(=)" "p.(=)" "" "0000895132" "00025980" "90" "6594" "0" "6594" "0" "c.*4968G>C" "r.(=)" "p.(=)" "" "0000895133" "00006515" "90" "6720" "0" "6720" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000895133" "00025980" "90" "6579" "0" "6579" "0" "c.*4953C>T" "r.(=)" "p.(=)" "" "0000895134" "00006515" "90" "6008" "0" "6008" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000895134" "00025980" "90" "5867" "0" "5867" "0" "c.*4241C>T" "r.(=)" "p.(=)" "" "0000895135" "00006515" "30" "4619" "0" "4619" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000895135" "00025980" "30" "4478" "0" "4478" "0" "c.*2852G>A" "r.(=)" "p.(=)" "" "0000895136" "00006515" "50" "4581" "0" "4581" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000895136" "00025980" "50" "4440" "0" "4440" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000895137" "00006515" "50" "4571" "0" "4571" "0" "c.*2804T>G" "r.(=)" "p.(=)" "" "0000895137" "00025980" "50" "4430" "0" "4430" "0" "c.*2804T>G" "r.(=)" "p.(=)" "" "0000895138" "00006515" "50" "4542" "0" "4542" "0" "c.*2775G>A" "r.(=)" "p.(=)" "" "0000895138" "00025980" "50" "4401" "0" "4401" "0" "c.*2775G>A" "r.(=)" "p.(=)" "" "0000895139" "00006515" "50" "3754" "0" "3754" "0" "c.*1987C>T" "r.(=)" "p.(=)" "" "0000895139" "00025980" "50" "3613" "0" "3613" "0" "c.*1987C>T" "r.(=)" "p.(=)" "" "0000895140" "00006515" "30" "3514" "0" "3514" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000895140" "00025980" "30" "3373" "0" "3373" "0" "c.*1747del" "r.(?)" "p.(=)" "" "0000895141" "00006515" "50" "1435" "0" "1435" "0" "c.1435G>C" "r.(?)" "p.(Glu479Gln)" "" "0000895141" "00025980" "50" "1294" "0" "1294" "0" "c.1294G>C" "r.(?)" "p.(Glu432Gln)" "" "0000915290" "00006515" "50" "6024" "0" "6024" "0" "c.*4257G>T" "r.(=)" "p.(=)" "" "0000915290" "00025980" "50" "5883" "0" "5883" "0" "c.*4257G>T" "r.(=)" "p.(=)" "" "0000915291" "00006515" "50" "3708" "0" "3708" "0" "c.*1941C>A" "r.(=)" "p.(=)" "" "0000915291" "00025980" "50" "3567" "0" "3567" "0" "c.*1941C>A" "r.(=)" "p.(=)" "" "0000926942" "00006515" "70" "6789" "0" "6789" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000926942" "00025980" "70" "6648" "0" "6648" "0" "c.*5022A>G" "r.(=)" "p.(=)" "" "0000926943" "00006515" "50" "6741" "0" "6741" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000926943" "00025980" "50" "6600" "0" "6600" "0" "c.*4974A>C" "r.(=)" "p.(=)" "" "0000926944" "00006515" "50" "4521" "0" "4521" "0" "c.*2754C>G" "r.(=)" "p.(=)" "" "0000926944" "00025980" "50" "4380" "0" "4380" "0" "c.*2754C>G" "r.(=)" "p.(=)" "" "0000926945" "00006515" "50" "3760" "0" "3760" "0" "c.*1993C>A" "r.(=)" "p.(=)" "" "0000926945" "00025980" "50" "3619" "0" "3619" "0" "c.*1993C>A" "r.(=)" "p.(=)" "" "0000931106" "00006515" "70" "6799" "0" "6799" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000931106" "00025980" "70" "6658" "0" "6658" "0" "c.*5032G>C" "r.(=)" "p.(=)" "" "0000931107" "00006515" "90" "6782" "0" "6784" "0" "c.*5015_*5017del" "r.(=)" "p.(=)" "" "0000931107" "00025980" "90" "6641" "0" "6643" "0" "c.*5015_*5017del" "r.(=)" "p.(=)" "" "0000951360" "00006515" "90" "6747" "0" "6747" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000951360" "00025980" "90" "6606" "0" "6606" "0" "c.*4980C>T" "r.(=)" "p.(=)" "" "0000951361" "00006515" "90" "6672" "0" "6672" "0" "c.*4905G>A" "r.(=)" "p.(=)" "" "0000951361" "00025980" "90" "6531" "0" "6531" "0" "c.*4905G>A" "r.(=)" "p.(=)" "" "0000951362" "00006515" "10" "6607" "0" "6607" "0" "c.*4840C>T" "r.(=)" "p.(=)" "" "0000951362" "00025980" "10" "6466" "0" "6466" "0" "c.*4840C>T" "r.(=)" "p.(=)" "" "0000969994" "00006515" "30" "6608" "0" "6608" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000969994" "00025980" "30" "6467" "0" "6467" "0" "c.*4841C>G" "r.(=)" "p.(=)" "" "0000969995" "00006515" "10" "6046" "0" "6046" "0" "c.*4279G>A" "r.(=)" "p.(=)" "" "0000969995" "00025980" "10" "5905" "0" "5905" "0" "c.*4279G>A" "r.(=)" "p.(=)" "" "0000969996" "00006515" "30" "4581" "0" "4581" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000969996" "00025980" "30" "4440" "0" "4440" "0" "c.*2814C>T" "r.(=)" "p.(=)" "" "0000969997" "00006515" "50" "4563" "0" "4563" "0" "c.*2796G>C" "r.(=)" "p.(=)" "" "0000969997" "00025980" "50" "4422" "0" "4422" "0" "c.*2796G>C" "r.(=)" "p.(=)" "" "0000969998" "00006515" "50" "4513" "0" "4513" "0" "c.*2746T>C" "r.(=)" "p.(=)" "" "0000969998" "00025980" "50" "4372" "0" "4372" "0" "c.*2746T>C" "r.(=)" "p.(=)" "" "0000969999" "00006515" "10" "4241" "0" "4241" "0" "c.*2474G>A" "r.(=)" "p.(=)" "" "0000969999" "00025980" "10" "4100" "0" "4100" "0" "c.*2474G>A" "r.(=)" "p.(=)" "" "0000983657" "00006515" "90" "6759" "0" "6759" "0" "c.*4992G>A" "r.(=)" "p.(=)" "" "0000983657" "00025980" "90" "6618" "0" "6618" "0" "c.*4992G>A" "r.(=)" "p.(=)" "" "0000983658" "00006515" "10" "4610" "0" "4610" "0" "c.*2843G>A" "r.(=)" "p.(=)" "" "0000983658" "00025980" "10" "4469" "0" "4469" "0" "c.*2843G>A" "r.(=)" "p.(=)" "" "0000983659" "00006515" "30" "1304" "10" "1304" "10" "c.1304+10G>T" "r.(=)" "p.(=)" "" "0000983659" "00025980" "30" "1163" "10" "1163" "10" "c.1163+10G>T" "r.(=)" "p.(=)" "" "0000983660" "00006515" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Asp380Asn)" "" "0000983660" "00025980" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Asp333Asn)" "" "0000983661" "00006515" "50" "1101" "0" "1101" "0" "c.1101C>G" "r.(?)" "p.(Asp367Glu)" "" "0000983661" "00025980" "50" "960" "0" "960" "0" "c.960C>G" "r.(?)" "p.(Asp320Glu)" "" "0000983662" "00006515" "50" "1031" "0" "1031" "0" "c.1031C>T" "r.(?)" "p.(Thr344Met)" "" "0000983662" "00025980" "50" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Thr297Met)" "" "0000983663" "00006515" "50" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ala331Asp)" "" "0000983663" "00025980" "50" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ala284Asp)" "" "0000983664" "00006515" "30" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0000983664" "00025980" "30" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0000983665" "00006515" "50" "684" "0" "685" "0" "c.684_685dup" "r.(?)" "p.(Gln229Profs*6)" "" "0000983665" "00025980" "50" "543" "0" "544" "0" "c.543_544dup" "r.(?)" "p.(Gln182Profs*6)" "" "0000983666" "00006515" "30" "468" "0" "468" "0" "c.468A>G" "r.(?)" "p.(Arg156=)" "" "0000983666" "00025980" "30" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Arg109=)" "" "0000983667" "00006515" "30" "369" "80" "369" "80" "c.369+80C>G" "r.(=)" "p.(=)" "" "0000983667" "00025980" "30" "228" "80" "228" "80" "c.228+80C>G" "r.(=)" "p.(=)" "" "0001005135" "00006515" "30" "4645" "0" "4645" "0" "c.*2878A>T" "r.(=)" "p.(=)" "" "0001005135" "00025980" "30" "4504" "0" "4504" "0" "c.*2878A>T" "r.(=)" "p.(=)" "" "0001005136" "00006515" "30" "4644" "0" "4644" "0" "c.*2877G>T" "r.(=)" "p.(=)" "" "0001005136" "00025980" "30" "4503" "0" "4503" "0" "c.*2877G>T" "r.(=)" "p.(=)" "" "0001005137" "00006515" "50" "4195" "0" "4195" "0" "c.*2428A>T" "r.(=)" "p.(=)" "" "0001005137" "00025980" "50" "4054" "0" "4054" "0" "c.*2428A>T" "r.(=)" "p.(=)" "" "0001005138" "00006515" "30" "1730" "0" "1730" "0" "c.1730C>T" "r.(?)" "p.(Pro577Leu)" "" "0001005138" "00025980" "30" "1589" "0" "1589" "0" "c.1589C>T" "r.(?)" "p.(Pro530Leu)" "" "0001027269" "00006515" "90" "4550" "0" "4550" "0" "c.*2783del" "r.(?)" "p.(=)" "" "0001027269" "00025980" "90" "4409" "0" "4409" "0" "c.*2783del" "r.(?)" "p.(=)" "" "0001027270" "00006515" "50" "4530" "0" "4530" "0" "c.*2763G>A" "r.(=)" "p.(=)" "" "0001027270" "00025980" "50" "4389" "0" "4389" "0" "c.*2763G>A" "r.(=)" "p.(=)" "" "0001027271" "00006515" "50" "994" "0" "994" "0" "c.994T>G" "r.(?)" "p.(Phe332Val)" "" "0001027271" "00025980" "50" "853" "0" "853" "0" "c.853T>G" "r.(?)" "p.(Phe285Val)" "" "0001027272" "00006515" "30" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Ala325Thr)" "" "0001027272" "00025980" "30" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "0001027607" "00025980" "50" "912" "5" "912" "5" "c.912+5G>C" "r.spl?" "p.?" "" "0001027630" "00025980" "30" "228" "63" "228" "63" "c.228+63T>G" "r.(?)" "p.(=)" "" "0001027631" "00025980" "30" "1255" "0" "1255" "0" "NM_001256715.1:c.1255C>T" "r.(?)" "p.(Arg419Trp)" "" "0001043180" "00006515" "70" "6657" "0" "6657" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0001043180" "00025980" "70" "6516" "0" "6516" "0" "c.*4890G>A" "r.(=)" "p.(=)" "" "0001043181" "00006515" "30" "4550" "0" "4550" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0001043181" "00025980" "30" "4409" "0" "4409" "0" "c.*2783G>T" "r.(=)" "p.(=)" "" "0001043182" "00006515" "50" "-5" "0" "-5" "0" "c.-5C>G" "r.(?)" "p.(=)" "" "0001043182" "00025980" "50" "-135" "0" "-135" "0" "c.-135C>G" "r.(?)" "p.(=)" "" "0001056804" "00006515" "50" "6063" "0" "6063" "0" "c.*4296C>G" "r.(=)" "p.(=)" "" "0001056804" "00025980" "50" "5922" "0" "5922" "0" "c.*4296C>G" "r.(=)" "p.(=)" "" "0001056805" "00006515" "50" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Gly587Arg)" "" "0001056805" "00025980" "50" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Arg)" "" "0001056806" "00006515" "50" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466Gln)" "" "0001056806" "00025980" "50" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "" "0001056807" "00006515" "90" "1138" "0" "1138" "0" "c.1138dup" "r.(?)" "p.(Asp380Glyfs*64)" "" "0001056807" "00025980" "90" "997" "0" "997" "0" "c.997dup" "r.(?)" "p.(Asp333Glyfs*64)" "" "0001056808" "00006515" "50" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Asp71Glu)" "" "0001056808" "00025980" "50" "72" "0" "72" "0" "c.72C>A" "r.(?)" "p.(Asp24Glu)" "" "0001056809" "00006515" "10" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Thr49=)" "" "0001056809" "00025980" "10" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(Thr2=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000463965" "0001027607" "0000463986" "0001027630" "0000463987" "0001027631"