### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP6V0A2) # 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}}" "ATP6V0A2" "ATPase, H+ transporting, lysosomal V0 subunit a2" "12" "q24.31" "unknown" "NG_012743.1" "UD_132084558506" "" "https://www.LOVD.nl/ATP6V0A2" "" "1" "18481" "23545" "611716" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATP6V0A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-04-21 18:15:47" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003115" "ATP6V0A2" "ATPase, H+ transporting, lysosomal V0 subunit a2" "001" "NM_012463.3" "" "NP_036595.2" "" "" "" "-248" "6294" "2571" "124196865" "124246302" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01734" "ARCL2A" "cutis laxa, autosomal recessive, type IIA (ARCL-2A)" "AR" "219200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02132" "WSS" "skin, wrinkly, syndrome (WSS)" "AR" "278250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ATP6V0A2" "00139" "ATP6V0A2" "01734" "ATP6V0A2" "02132" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00289442" "" "" "" "1" "" "02515" "" "" "F" "no" "Italy" "25y" "" "" "" "" "3022" "00290632" "" "" "" "93" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290633" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304334" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433095" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Canada" "" "0" "" "" "Native American" "Pat71,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00289442" "01734" "00290632" "00198" "00290633" "00198" "00304334" "00198" "00433095" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01734, 02132, 05292 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223050" "01734" "00289442" "02515" "Familial, autosomal recessive" "25y" "generalized skin wrinkling, delayed closure of the anterior fontanelle." "" "24y" "" "" "" "" "" "" "ARCL2A" "Cutis Laxa" "" "0000323621" "05292" "00433095" "00006" "Familial, autosomal recessive" "13y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000290610" "00289442" "1" "02515" "02515" "2020-03-11 10:39:32" "" "" "SEQ-NG" "DNA" "Blood" "" "0000291800" "00290632" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291801" "00290633" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305463" "00304334" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434526" "00433095" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000290610" "ATP6V0A2" ## 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 = 83 "{{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}}" "0000253592" "0" "10" "12" "124228414" "124228414" "subst" "0.0112036" "01943" "ATP6V0A2_000015" "g.124228414A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.1121A>G (p.K374R, p.(Lys374Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123743867A>G" "" "benign" "" "0000253856" "0" "10" "12" "124242472" "124242472" "subst" "0" "01943" "ATP6V0A2_000032" "g.124242472A>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757925A>T" "" "benign" "" "0000254834" "0" "30" "12" "124242557" "124242557" "subst" "0.011124" "01943" "ATP6V0A2_000033" "g.124242557A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.2549A>G (p.N850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123758010A>G" "" "likely benign" "" "0000259192" "0" "10" "12" "124229429" "124229429" "subst" "0.697014" "02325" "ATP6V0A2_000019" "g.124229429T>C" "" "" "" "ATP6V0A2(NM_012463.4):c.1515T>C (p.N505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123744882T>C" "" "benign" "" "0000259193" "0" "10" "12" "124210782" "124210782" "subst" "0.682239" "02325" "ATP6V0A2_000007" "g.124210782T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.471T>C (p.S157=), ATP6V0A2(NM_012463.4):c.471T>C (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123726235T>C" "" "benign" "" "0000259699" "0" "50" "12" "124197138" "124197138" "subst" "0" "02325" "ATP6V0A2_000001" "g.124197138C>T" "" "" "" "ATP6V0A2(NM_012463.4):c.26C>T (p.T9I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712591C>T" "" "VUS" "" "0000263295" "0" "10" "12" "124221796" "124221796" "subst" "0.0116612" "01943" "ATP6V0A2_000012" "g.124221796G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1016G>A (p.R339H, p.(Arg339His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737249G>A" "" "benign" "" "0000263296" "0" "10" "12" "124228319" "124228319" "subst" "0.0002074" "01943" "ATP6V0A2_000013" "g.124228319G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1039-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123743772G>T" "" "benign" "" "0000263297" "0" "50" "12" "124228404" "124228404" "subst" "4.87286E-5" "01943" "ATP6V0A2_000014" "g.124228404C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1111C>T (p.R371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123743857C>T" "" "VUS" "" "0000263298" "0" "10" "12" "124197243" "124197243" "subst" "0.00137823" "01943" "ATP6V0A2_000002" "g.124197243G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.117+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712696G>A" "" "benign" "" "0000263299" "0" "50" "12" "124228816" "124228816" "subst" "0.00204667" "01943" "ATP6V0A2_000016" "g.124228816G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1258G>T (p.V420L, p.(Val420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123744269G>T" "" "VUS" "" "0000263300" "0" "10" "12" "124229333" "124229333" "subst" "0" "01943" "ATP6V0A2_000017" "g.124229333T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.1514+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123744786T>C" "" "benign" "" "0000263301" "0" "30" "12" "124229438" "124229438" "subst" "0.000190851" "01943" "ATP6V0A2_000020" "g.124229438C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1524C>T (p.V508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123744891C>T" "" "likely benign" "" "0000263302" "0" "10" "12" "124232142" "124232142" "subst" "0.00284693" "01943" "ATP6V0A2_000022" "g.124232142G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1606-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123747595G>A" "" "benign" "" "0000263303" "0" "30" "12" "124232135" "124232135" "subst" "0" "01943" "ATP6V0A2_000021" "g.124232135T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.1606-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123747588T>C" "" "likely benign" "" "0000263304" "0" "50" "12" "124233163" "124233163" "subst" "0.000353302" "01943" "ATP6V0A2_000023" "g.124233163C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1766C>T (p.P589L, p.(Pro589Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123748616C>T" "" "VUS" "" "0000263305" "0" "30" "12" "124239020" "124239020" "subst" "0.00103141" "01943" "ATP6V0A2_000028" "g.124239020T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.2229T>C (p.C743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123754473T>C" "" "likely benign" "" "0000263306" "0" "30" "12" "124239029" "124239029" "subst" "0.00161209" "01943" "ATP6V0A2_000029" "g.124239029C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2238C>T (p.C746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123754482C>T" "" "likely benign" "" "0000263307" "0" "10" "12" "124241506" "124241506" "subst" "0.0284167" "01943" "ATP6V0A2_000030" "g.124241506C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2438C>T (p.A813V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123756959C>T" "" "benign" "" "0000263308" "0" "10" "12" "124242471" "124242471" "del" "0" "01943" "ATP6V0A2_000031" "g.124242471del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757924del" "" "benign" "" "0000263309" "0" "10" "12" "124209332" "124209332" "subst" "0.685666" "01943" "ATP6V0A2_000004" "g.124209332T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.426T>C (p.N142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123724785T>C" "" "benign" "" "0000263310" "0" "10" "12" "124209352" "124209352" "subst" "0.681893" "01943" "ATP6V0A2_000005" "g.124209352C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.432+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123724805C>T" "" "benign" "" "0000263311" "0" "10" "12" "124210782" "124210782" "subst" "0.682239" "01943" "ATP6V0A2_000007" "g.124210782T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.471T>C (p.S157=), ATP6V0A2(NM_012463.4):c.471T>C (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123726235T>C" "" "benign" "" "0000263312" "0" "30" "12" "124212422" "124212422" "subst" "0.000483233" "01943" "ATP6V0A2_000008" "g.124212422C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.614C>T (p.A205V, p.(Ala205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123727875C>T" "" "likely benign" "" "0000263313" "0" "10" "12" "124220055" "124220055" "subst" "0.650133" "01943" "ATP6V0A2_000010" "g.124220055T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.732-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123735508T>C" "" "benign" "" "0000263314" "0" "50" "12" "124221700" "124221700" "subst" "0.000113699" "01943" "ATP6V0A2_000011" "g.124221700C>G" "" "" "" "ATP6V0A2(NM_012463.3):c.920C>G (p.A307G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737153C>G" "" "VUS" "" "0000316394" "0" "30" "12" "124192207" "124192207" "subst" "0.0144507" "01943" "TCTN2_000020" "g.124192207T>C" "" "" "" "TCTN2(NM_024809.4):c.2041T>C (p.L681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123707660T>C" "" "likely benign" "" "0000323193" "0" "50" "12" "124206931" "124206931" "subst" "4.06088E-5" "01804" "ATP6V0A2_000003" "g.124206931T>G" "" "" "" "ATP6V0A2(NM_012463.3):c.230T>G (p.(Ile77Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722384T>G" "" "VUS" "" "0000323195" "0" "30" "12" "124218482" "124218482" "subst" "2.43795E-5" "01804" "ATP6V0A2_000009" "g.124218482A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.658A>G (p.(Ile220Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733935A>G" "" "likely benign" "" "0000323196" "0" "50" "12" "124229426" "124229427" "del" "0" "01804" "ATP6V0A2_000018" "g.124229426_124229427del" "" "" "" "ATP6V0A2(NM_012463.3):c.1515-4_1515-3del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123744879_123744880del" "" "VUS" "" "0000323198" "0" "50" "12" "124235662" "124235662" "subst" "0" "01804" "ATP6V0A2_000025" "g.124235662T>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1941T>A (p.(Tyr647Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123751115T>A" "" "VUS" "" "0000323199" "0" "50" "12" "124235669" "124235669" "subst" "0" "01804" "ATP6V0A2_000026" "g.124235669A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.1948A>G (p.(Arg650Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123751122A>G" "" "VUS" "" "0000323200" "0" "50" "12" "124235784" "124235784" "subst" "4.06062E-6" "01804" "ATP6V0A2_000027" "g.124235784C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2055+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123751237C>T" "" "VUS" "" "0000323201" "0" "50" "12" "124242472" "124242472" "subst" "0" "01804" "ATP6V0A2_000032" "g.124242472A>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757925A>T" "" "VUS" "" "0000347682" "0" "70" "12" "124197114" "124197114" "subst" "0" "02327" "ATP6V0A2_000034" "g.124197114T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123712567T>C" "" "likely pathogenic" "" "0000546938" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "01943" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000546939" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "02327" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000546940" "0" "10" "12" "124197099" "124197099" "subst" "0.320616" "02325" "ATP6V0A2_000035" "g.124197099C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.-14C>T, ATP6V0A2(NM_012463.4):c.-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123712552C>T" "" "benign" "" "0000546941" "0" "30" "12" "124209328" "124209328" "subst" "0.000272094" "01943" "ATP6V0A2_000036" "g.124209328G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.422G>T (p.R141L), ATP6V0A2(NM_012463.4):c.422G>T (p.R141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123724781G>T" "" "likely benign" "" "0000546942" "0" "30" "12" "124209328" "124209328" "subst" "0.000272094" "02325" "ATP6V0A2_000036" "g.124209328G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.422G>T (p.R141L), ATP6V0A2(NM_012463.4):c.422G>T (p.R141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123724781G>T" "" "likely benign" "" "0000546943" "0" "10" "12" "124209332" "124209332" "subst" "0.685666" "02327" "ATP6V0A2_000004" "g.124209332T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.426T>C (p.N142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123724785T>C" "" "benign" "" "0000546944" "0" "10" "12" "124209352" "124209352" "subst" "0.681893" "02327" "ATP6V0A2_000005" "g.124209352C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.432+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123724805C>T" "" "benign" "" "0000546945" "0" "10" "12" "124210782" "124210782" "subst" "0.682239" "02327" "ATP6V0A2_000007" "g.124210782T>C" "" "" "" "ATP6V0A2(NM_012463.3):c.471T>C (p.S157=), ATP6V0A2(NM_012463.4):c.471T>C (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123726235T>C" "" "benign" "" "0000546946" "0" "30" "12" "124221796" "124221796" "subst" "0.0116612" "01804" "ATP6V0A2_000012" "g.124221796G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1016G>A (p.R339H, p.(Arg339His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737249G>A" "" "likely benign" "" "0000546947" "0" "30" "12" "124228816" "124228816" "subst" "0.00204667" "01804" "ATP6V0A2_000016" "g.124228816G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1258G>T (p.V420L, p.(Val420Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744269G>T" "" "likely benign" "" "0000546948" "0" "30" "12" "124229303" "124229303" "subst" "0.00118977" "01943" "ATP6V0A2_000037" "g.124229303G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1486G>A (p.A496T, p.(Ala496Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744756G>A" "" "likely benign" "" "0000546949" "0" "30" "12" "124229303" "124229303" "subst" "0.00118977" "01804" "ATP6V0A2_000037" "g.124229303G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1486G>A (p.A496T, p.(Ala496Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744756G>A" "" "likely benign" "" "0000546950" "0" "30" "12" "124229312" "124229312" "subst" "4.06058E-6" "01804" "ATP6V0A2_000038" "g.124229312A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.1495A>G (p.(Lys499Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744765A>G" "" "likely benign" "" "0000546951" "0" "10" "12" "124229429" "124229429" "subst" "0.697014" "02327" "ATP6V0A2_000019" "g.124229429T>C" "" "" "" "ATP6V0A2(NM_012463.4):c.1515T>C (p.N505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744882T>C" "" "benign" "" "0000546952" "0" "30" "12" "124229504" "124229504" "subst" "0.00170565" "01943" "ATP6V0A2_000039" "g.124229504C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1590C>T (p.P530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123744957C>T" "" "likely benign" "" "0000546953" "0" "10" "12" "124241506" "124241506" "subst" "0.0284167" "02327" "ATP6V0A2_000030" "g.124241506C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2438C>T (p.A813V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123756959C>T" "" "benign" "" "0000546954" "0" "10" "12" "124242471" "124242471" "dup" "0" "02325" "ATP6V0A2_000040" "g.124242471dup" "" "" "" "ATP6V0A2(NM_012463.4):c.2466-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757924dup" "" "benign" "" "0000546955" "0" "30" "12" "124242472" "124242475" "del" "0" "01804" "ATP6V0A2_000041" "g.124242472_124242475del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2_2467del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757925_123757928del" "" "likely benign" "" "0000546956" "0" "30" "12" "124242473" "124242473" "subst" "0" "01804" "ATP6V0A2_000042" "g.124242473G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757926G>T" "" "likely benign" "" "0000546957" "0" "30" "12" "124242474" "124242474" "subst" "0" "01804" "ATP6V0A2_000043" "g.124242474G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466G>T (p.(Trp822Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757927G>T" "" "likely benign" "" "0000546958" "0" "30" "12" "124242475" "124242475" "subst" "0" "01804" "ATP6V0A2_000044" "g.124242475G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2467G>T (p.(Val823Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757928G>T" "" "likely benign" "" "0000546959" "0" "30" "12" "124242476" "124242477" "ins" "0" "01804" "ATP6V0A2_000045" "g.124242476_124242477insTTTT" "" "" "" "ATP6V0A2(NM_012463.3):c.2467_2468insTTTT (p.(Glu824PhefsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757929_123757930insTTTT" "" "likely benign" "" "0000613922" "0" "30" "12" "124228472" "124228472" "subst" "0" "01943" "ATP6V0A2_000048" "g.124228472A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.1179A>G (p.E393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123743925A>G" "" "likely benign" "" "0000647298" "21" "70" "12" "124197115" "124197115" "subst" "0" "02515" "ATP6V0A2_000049" "g.124197115G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123712568G>C" "" "pathogenic" "" "0000647299" "11" "70" "12" "124228394" "124228394" "dup" "0" "02515" "ATP6V0A2_000050" "g.124228394dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.123743847dup" "" "pathogenic" "" "0000648489" "1" "30" "12" "124241506" "124241506" "subst" "0.0284167" "03575" "ATP6V0A2_000030" "g.124241506C>T" "93/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "93 heterozygous; {DB:CLININrs17883456}" "Germline" "" "rs17883456" "0" "" "" "g.123756959C>T" "" "likely benign" "" "0000648490" "1" "50" "12" "124242557" "124242557" "subst" "0.011124" "03575" "ATP6V0A2_000033" "g.124242557A>G" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs75279884}" "Germline" "" "rs75279884" "0" "" "" "g.123758010A>G" "" "VUS" "" "0000657011" "0" "50" "12" "124209286" "124209286" "subst" "0" "01943" "ATP6V0A2_000051" "g.124209286A>T" "" "" "" "ATP6V0A2(NM_012463.3):c.380A>T (p.E127V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123724739A>T" "" "VUS" "" "0000657012" "0" "30" "12" "124220115" "124220115" "subst" "0.000154379" "01943" "ATP6V0A2_000052" "g.124220115G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.769G>A (p.E257K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123735568G>A" "" "likely benign" "" "0000669151" "3" "30" "12" "124241506" "124241506" "subst" "0.0284167" "03575" "ATP6V0A2_000030" "g.124241506C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs17883456}" "Germline" "" "rs17883456" "0" "" "" "g.123756959C>T" "" "likely benign" "" "0000679423" "0" "30" "12" "124228414" "124228414" "subst" "0.0112036" "01804" "ATP6V0A2_000015" "g.124228414A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.1121A>G (p.K374R, p.(Lys374Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691273" "0" "30" "12" "124241358" "124241358" "subst" "0.000800839" "01943" "ATP6V0A2_000053" "g.124241358G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.2294-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723891" "0" "30" "12" "124220140" "124220140" "subst" "1.21874E-5" "01804" "ATP6V0A2_000054" "g.124220140G>A" "" "" "" "ATP6V0A2(NM_012463.3):c.794G>A (p.(Gly265Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723892" "0" "70" "12" "124228475" "124228475" "del" "0" "01943" "ATP6V0A2_000055" "g.124228475del" "" "" "" "ATP6V0A2(NM_012463.3):c.1182delC (p.N395Ifs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805575" "0" "30" "12" "124241408" "124241408" "subst" "0.000479203" "01943" "ATP6V0A2_000056" "g.124241408C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2340C>T (p.R780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853298" "0" "50" "12" "124233163" "124233163" "subst" "0.000353302" "01804" "ATP6V0A2_000023" "g.124233163C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1766C>T (p.P589L, p.(Pro589Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853299" "0" "10" "12" "124242471" "124242471" "del" "0" "02325" "ATP6V0A2_000031" "g.124242471del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890372" "0" "30" "12" "124192139" "124192139" "subst" "0.000500554" "02326" "ATP6V0A2_000057" "g.124192139A>G" "" "" "" "TCTN2(NM_024809.5):c.1985-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890373" "0" "50" "12" "124229503" "124229503" "subst" "0" "01804" "ATP6V0A2_000058" "g.124229503C>A" "" "" "" "ATP6V0A2(NM_012463.3):c.1589C>A (p.(Pro530His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913785" "0" "30" "12" "124212422" "124212422" "subst" "0.000483233" "01804" "ATP6V0A2_000008" "g.124212422C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.614C>T (p.A205V, p.(Ala205Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920280" "3" "70" "12" "124229332" "124229332" "subst" "4.06058E-6" "00006" "ATP6V0A2_000059" "g.124229332G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.123744785G>A" "" "likely pathogenic" "ACMG" "0000966785" "0" "50" "12" "124228389" "124228389" "subst" "3.65488E-5" "01804" "ATP6V0A2_000060" "g.124228389C>T" "" "" "" "ATP6V0A2(NM_012463.3):c.1096C>T (p.(Pro366Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980111" "0" "50" "12" "124241407" "124241407" "subst" "1.21823E-5" "01804" "ATP6V0A2_000061" "g.124241407G>A" "" "" "" "ATP6V0A2(NM_012463.4):c.2339G>A (p.(Arg780His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054549" "0" "50" "12" "124206960" "124206960" "subst" "1.2183E-5" "01804" "ATP6V0A2_000062" "g.124206960C>T" "" "" "" "ATP6V0A2(NM_012463.4):c.259C>T (p.(Pro87Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054550" "0" "50" "12" "124218534" "124218534" "subst" "8.13286E-6" "01804" "ATP6V0A2_000063" "g.124218534A>G" "" "" "" "ATP6V0A2(NM_012463.4):c.710A>G (p.(Lys237Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054551" "0" "50" "12" "124221795" "124221795" "subst" "6.50052E-5" "01804" "ATP6V0A2_000064" "g.124221795C>T" "" "" "" "ATP6V0A2(NM_012463.4):c.1015C>T (p.(Arg339Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054552" "0" "50" "12" "124221811" "124221811" "subst" "2.84574E-5" "01804" "ATP6V0A2_000065" "g.124221811A>G" "" "" "" "ATP6V0A2(NM_012463.4):c.1031A>G (p.(Glu344Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054553" "0" "50" "12" "124228405" "124228405" "subst" "4.87306E-5" "01804" "ATP6V0A2_000066" "g.124228405G>A" "" "" "" "ATP6V0A2(NM_012463.4):c.1112G>A (p.(Arg371His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 ATP6V0A2 ## Count = 83 "{{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}}" "0000253592" "00003115" "10" "1121" "0" "1121" "0" "c.1121A>G" "r.(?)" "p.(Lys374Arg)" "" "0000253856" "00003115" "10" "2466" "-2" "2466" "-2" "c.2466-2A>T" "r.spl?" "p.?" "" "0000254834" "00003115" "30" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Asn850Ser)" "" "0000259192" "00003115" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Asn505=)" "" "0000259193" "00003115" "10" "471" "0" "471" "0" "c.471T>C" "r.(?)" "p.(Ser157=)" "" "0000259699" "00003115" "50" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Thr9Ile)" "" "0000263295" "00003115" "10" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339His)" "" "0000263296" "00003115" "10" "1039" "-13" "1039" "-13" "c.1039-13G>T" "r.(=)" "p.(=)" "" "0000263297" "00003115" "50" "1111" "0" "1111" "0" "c.1111C>T" "r.(?)" "p.(Arg371Cys)" "" "0000263298" "00003115" "10" "117" "14" "117" "14" "c.117+14G>A" "r.(=)" "p.(=)" "" "0000263299" "00003115" "50" "1258" "0" "1258" "0" "c.1258G>T" "r.(?)" "p.(Val420Leu)" "" "0000263300" "00003115" "10" "1514" "2" "1514" "2" "c.1514+2T>C" "r.spl?" "p.?" "" "0000263301" "00003115" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Val508=)" "" "0000263302" "00003115" "10" "1606" "-12" "1606" "-12" "c.1606-12G>A" "r.(=)" "p.(=)" "" "0000263303" "00003115" "30" "1606" "-19" "1606" "-19" "c.1606-19T>C" "r.(=)" "p.(=)" "" "0000263304" "00003115" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Pro589Leu)" "" "0000263305" "00003115" "30" "2229" "0" "2229" "0" "c.2229T>C" "r.(?)" "p.(Cys743=)" "" "0000263306" "00003115" "30" "2238" "0" "2238" "0" "c.2238C>T" "r.(?)" "p.(Cys746=)" "" "0000263307" "00003115" "10" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ala813Val)" "" "0000263308" "00003115" "10" "2466" "-3" "2466" "-3" "c.2466-3del" "r.spl?" "p.?" "" "0000263309" "00003115" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Asn142=)" "" "0000263310" "00003115" "10" "432" "14" "432" "14" "c.432+14C>T" "r.(=)" "p.(=)" "" "0000263311" "00003115" "10" "471" "0" "471" "0" "c.471T>C" "r.(?)" "p.(Ser157=)" "" "0000263312" "00003115" "30" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "" "0000263313" "00003115" "10" "732" "-23" "732" "-23" "c.732-23T>C" "r.(=)" "p.(=)" "" "0000263314" "00003115" "50" "920" "0" "920" "0" "c.920C>G" "r.(?)" "p.(Ala307Gly)" "" "0000316394" "00003115" "30" "-4906" "0" "-4906" "0" "c.-4906T>C" "r.(?)" "p.(=)" "" "0000323193" "00003115" "50" "230" "0" "230" "0" "c.230T>G" "r.(?)" "p.(Ile77Ser)" "" "0000323195" "00003115" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ile220Val)" "" "0000323196" "00003115" "50" "1515" "-3" "1515" "-2" "c.1515-3_1515-2del" "r.spl?" "p.?" "" "0000323198" "00003115" "50" "1941" "0" "1941" "0" "c.1941T>A" "r.(?)" "p.(Tyr647Ter)" "" "0000323199" "00003115" "50" "1948" "0" "1948" "0" "c.1948A>G" "r.(?)" "p.(Arg650Gly)" "" "0000323200" "00003115" "50" "2055" "8" "2055" "8" "c.2055+8C>T" "r.(=)" "p.(=)" "" "0000323201" "00003115" "50" "2466" "-2" "2466" "-2" "c.2466-2A>T" "r.spl?" "p.?" "" "0000347682" "00003115" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000546938" "00003115" "10" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" "p.(=)" "" "0000546939" "00003115" "10" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" "p.(=)" "" "0000546940" "00003115" "10" "-14" "0" "-14" "0" "c.-14C>T" "r.(?)" "p.(=)" "" "0000546941" "00003115" "30" "422" "0" "422" "0" "c.422G>T" "r.(?)" "p.(Arg141Leu)" "" "0000546942" "00003115" "30" "422" "0" "422" "0" "c.422G>T" "r.(?)" "p.(Arg141Leu)" "" "0000546943" "00003115" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Asn142=)" "" "0000546944" "00003115" "10" "432" "14" "432" "14" "c.432+14C>T" "r.(=)" "p.(=)" "" "0000546945" "00003115" "10" "471" "0" "471" "0" "c.471T>C" "r.(?)" "p.(Ser157=)" "" "0000546946" "00003115" "30" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339His)" "" "0000546947" "00003115" "30" "1258" "0" "1258" "0" "c.1258G>T" "r.(?)" "p.(Val420Leu)" "" "0000546948" "00003115" "30" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Ala496Thr)" "" "0000546949" "00003115" "30" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Ala496Thr)" "" "0000546950" "00003115" "30" "1495" "0" "1495" "0" "c.1495A>G" "r.(?)" "p.(Lys499Glu)" "" "0000546951" "00003115" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Asn505=)" "" "0000546952" "00003115" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Pro530=)" "" "0000546953" "00003115" "10" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ala813Val)" "" "0000546954" "00003115" "10" "2466" "-3" "2466" "-3" "c.2466-3dup" "r.spl?" "p.?" "" "0000546955" "00003115" "30" "2466" "-2" "2467" "0" "c.2466-2_2467del" "r.spl?" "p.?" "" "0000546956" "00003115" "30" "2466" "-1" "2466" "-1" "c.2466-1G>T" "r.spl?" "p.?" "" "0000546957" "00003115" "30" "2466" "0" "2466" "0" "c.2466G>T" "r.(?)" "p.(Trp822Cys)" "" "0000546958" "00003115" "30" "2467" "0" "2467" "0" "c.2467G>T" "r.(?)" "p.(Val823Leu)" "" "0000546959" "00003115" "30" "2468" "0" "2469" "0" "c.2468_2469insTTTT" "r.(?)" "p.(Glu824PhefsTer29)" "" "0000613922" "00003115" "30" "1179" "0" "1179" "0" "c.1179A>G" "r.(?)" "p.(Glu393=)" "" "0000647298" "00003115" "70" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "0000647299" "00003115" "70" "1101" "0" "1101" "0" "c.1101dup" "r.(?)" "p.(Thr368Hisfs*65)" "10" "0000648489" "00003115" "30" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ala813Val)" "" "0000648490" "00003115" "50" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Asn850Ser)" "" "0000657011" "00003115" "50" "380" "0" "380" "0" "c.380A>T" "r.(?)" "p.(Glu127Val)" "" "0000657012" "00003115" "30" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Glu257Lys)" "" "0000669151" "00003115" "30" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ala813Val)" "" "0000679423" "00003115" "30" "1121" "0" "1121" "0" "c.1121A>G" "r.(?)" "p.(Lys374Arg)" "" "0000691273" "00003115" "30" "2294" "-4" "2294" "-4" "c.2294-4G>A" "r.spl?" "p.?" "" "0000723891" "00003115" "30" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Gly265Glu)" "" "0000723892" "00003115" "70" "1182" "0" "1182" "0" "c.1182del" "r.(?)" "p.(Asn395Ilefs*16)" "" "0000805575" "00003115" "30" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Arg780=)" "" "0000853298" "00003115" "50" "1766" "0" "1766" "0" "c.1766C>T" "r.(?)" "p.(Pro589Leu)" "" "0000853299" "00003115" "10" "2466" "-3" "2466" "-3" "c.2466-3del" "r.spl?" "p.?" "" "0000890372" "00003115" "30" "-4974" "0" "-4974" "0" "c.-4974A>G" "r.(?)" "p.(=)" "" "0000890373" "00003115" "50" "1589" "0" "1589" "0" "c.1589C>A" "r.(?)" "p.(Pro530His)" "" "0000913785" "00003115" "30" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ala205Val)" "" "0000920280" "00003115" "70" "1514" "1" "1514" "1" "c.1514+1G>A" "r.spl" "p.?" "12i" "0000966785" "00003115" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Pro366Ser)" "" "0000980111" "00003115" "50" "2339" "0" "2339" "0" "c.2339G>A" "r.(?)" "p.(Arg780His)" "" "0001054549" "00003115" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0001054550" "00003115" "50" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Lys237Arg)" "" "0001054551" "00003115" "50" "1015" "0" "1015" "0" "c.1015C>T" "r.(?)" "p.(Arg339Cys)" "" "0001054552" "00003115" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Glu344Gly)" "" "0001054553" "00003115" "50" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Arg371His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000290610" "0000647298" "0000290610" "0000647299" "0000291800" "0000648489" "0000291801" "0000648490" "0000305463" "0000669151" "0000434526" "0000920280"