### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP6AP1) # 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}}" "ATP6AP1" "ATPase, H+ transporting, lysosomal accessory protein 1" "X" "q28" "unknown" "NG_052807.1" "UD_134752115378" "" "https://www.LOVD.nl/ATP6AP1" "" "1" "868" "537" "300197" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ATP6AP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-10-24 16:57:49" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000947" "ATP6AP1" "ATPase, H+ transporting, lysosomal accessory protein 1" "001" "NM_001183.4" "" "NP_001174.2" "" "" "" "-61" "2038" "1413" "153656978" "153664862" "00000" "2012-09-13 13:01:04" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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" "05336" "IMD47" "immunodeficiency, type 47 (IMD-47)" "XLR" "300972" "" "" "" "00006" "2017-10-24 17:00:35" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ATP6AP1" "05292" "ATP6AP1" "05336" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00131880" "" "" "" "1" "" "02261" "" "1 affected" "M" "no" "Belgium" "01y" "0" "yes" "" "" "patient 1" "00183135" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX75/D13" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050693" "00198" "00131880" "05292" "00183135" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 05292, 05336 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000104101" "05292" "00131880" "02261" "Familial, X-linked recessive" "01y" "immunodeficiency (IMD-47), hepatopathy, cutis laxa, dilatation of sinus aortae, cholestasis, hepatopathy, diaphragmatic hernia, recurrent infections" "00y01m" "" "" "cutis laxa" "" "" "" "" "" "" "" "" "0000143889" "00187" "00183135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000132718" "00131880" "1" "02261" "02261" "2017-09-20 11:51:14" "" "" "SEQ-NG" "RNA" "peripheral blood-derived DNA" "" "0000184093" "00183135" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000132718" "ATP6AP1" "0000184093" "GDI1" ## 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 = 48 "{{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}}" "0000003347" "0" "50" "X" "153658451" "153658451" "del" "0" "00037" "ATP6AP1_000009" "g.153658451del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154430105del" "" "VUS" "" "0000008073" "20" "50" "X" "153657083" "153657083" "subst" "0.877799" "00037" "ATP6AP1_000001" "g.153657083A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154428737=" "" "VUS" "" "0000008074" "20" "50" "X" "153659164" "153659164" "subst" "0" "00037" "ATP6AP1_000005" "g.153659164T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154430818=" "" "VUS" "" "0000008075" "20" "50" "X" "153660041" "153660041" "subst" "0" "00037" "ATP6AP1_000006" "g.153660041C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154431695=" "" "VUS" "" "0000010253" "20" "50" "X" "153657083" "153657083" "subst" "0.877799" "00037" "ATP6AP1_000001" "g.153657083A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154428737=" "" "VUS" "" "0000010254" "20" "50" "X" "153660041" "153660041" "subst" "0" "00037" "ATP6AP1_000006" "g.153660041C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154431695=" "" "VUS" "" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000221902" "21" "90" "X" "153662031" "153662031" "subst" "0" "02261" "ATP6AP1_000010" "g.153662031T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154433685T>A" "" "pathogenic" "" "0000263291" "0" "30" "X" "153657162" "153657162" "subst" "4.0503E-5" "01943" "ATP6AP1_000011" "g.153657162G>A" "" "" "" "ATP6AP1(NM_001183.5):c.124G>A (p.E42K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154428816G>A" "" "likely benign" "" "0000281019" "0" "30" "X" "153667108" "153667108" "subst" "0.00481081" "02325" "GDI1_000007" "g.153667108C>T" "" "" "" "GDI1(NM_001493.3):c.154-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154438762C>T" "" "likely benign" "" "0000281020" "0" "10" "X" "153667176" "153667176" "subst" "0.178978" "02325" "GDI1_000008" "g.153667176T>C" "" "" "" "GDI1(NM_001493.3):c.219T>C (p.N73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154438830T>C" "" "benign" "" "0000336229" "0" "50" "X" "153660206" "153660206" "subst" "4.47758E-5" "01804" "ATP6AP1_000012" "g.153660206G>A" "" "" "" "ATP6AP1(NM_001183.5):c.319G>A (p.(Gly107Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154431860G>A" "" "VUS" "" "0000336230" "0" "50" "X" "153660787" "153660787" "subst" "0.000636976" "01804" "ATP6AP1_000013" "g.153660787G>A" "" "" "" "ATP6AP1(NM_001183.5):c.539G>A (p.(Arg180His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154432441G>A" "" "VUS" "" "0000336232" "0" "50" "X" "153663817" "153663817" "subst" "1.68455E-5" "01804" "ATP6AP1_000015" "g.153663817C>T" "" "" "" "ATP6AP1(NM_001183.5):c.1169C>T (p.(Pro390Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154435471C>T" "" "VUS" "" "0000336233" "0" "50" "X" "153664221" "153664221" "subst" "3.9235E-5" "01804" "ATP6AP1_000016" "g.153664221T>C" "" "" "" "ATP6AP1(NM_001183.5):c.1397T>C (p.(Leu466Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154435875T>C" "" "VUS" "" "0000408062" "20" "90" "X" "153570408" "153861108" "dup" "0" "00006" "FLNA_000307" "g.153570408_153861108dup" "" "{PMID:Hu 2016:25644381}" "" "GDI1" "" "Germline" "" "" "0" "" "" "g.154342193_154632893dup" "" "pathogenic" "" "0000574875" "0" "10" "X" "153657149" "153657154" "dup" "0" "02325" "ATP6AP1_000018" "g.153657149_153657154dup" "" "" "" "ATP6AP1(NM_001183.6):c.111_116dupGGCGGC (p.A40_A41dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154428803_154428808dup" "" "benign" "" "0000574877" "0" "30" "X" "153657414" "153657414" "subst" "5.64809E-6" "01804" "ATP6AP1_000020" "g.153657414C>G" "" "" "" "ATP6AP1(NM_001183.5):c.182C>G (p.(Ala61Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154429068C>G" "" "likely benign" "" "0000574878" "0" "30" "X" "153660248" "153660248" "subst" "0.000986254" "01943" "ATP6AP1_000021" "g.153660248G>C" "" "" "" "ATP6AP1(NM_001183.5):c.361G>C (p.E121Q, p.(Glu121Gln)), ATP6AP1(NM_001183.6):c.361G>C (p.E121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154431902G>C" "" "likely benign" "" "0000574879" "0" "30" "X" "153660248" "153660248" "subst" "0.000986254" "01804" "ATP6AP1_000021" "g.153660248G>C" "" "" "" "ATP6AP1(NM_001183.5):c.361G>C (p.E121Q, p.(Glu121Gln)), ATP6AP1(NM_001183.6):c.361G>C (p.E121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154431902G>C" "" "likely benign" "" "0000574880" "0" "30" "X" "153660696" "153660696" "subst" "0" "01804" "GDI1_000013" "g.153660696G>A" "" "" "" "ATP6AP1(NM_001183.5):c.448G>A (p.(Glu150Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154432350G>A" "" "likely benign" "" "0000574881" "0" "70" "X" "153663684" "153663684" "subst" "0" "02327" "GDI1_000014" "g.153663684G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154435338G>A" "" "likely pathogenic" "" "0000574882" "0" "10" "X" "153663810" "153663810" "subst" "0.00161545" "01943" "GDI1_000015" "g.153663810A>C" "" "" "" "ATP6AP1(NM_001183.5):c.1162A>C (p.T388P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154435464A>C" "" "benign" "" "0000574884" "0" "10" "X" "153667108" "153667108" "subst" "0.00481081" "01804" "GDI1_000007" "g.153667108C>T" "" "" "" "GDI1(NM_001493.3):c.154-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154438762C>T" "" "benign" "" "0000574885" "0" "30" "X" "153667436" "153667436" "subst" "0" "01943" "GDI1_000016" "g.153667436G>C" "" "" "" "GDI1(NM_001493.2):c.338G>C (p.G113A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154439090G>C" "" "likely benign" "" "0000574886" "0" "30" "X" "153668830" "153668830" "subst" "0.000123073" "02326" "GDI1_000017" "g.153668830C>T" "" "" "" "GDI1(NM_001493.3):c.696C>T (p.(Gly232=), p.G232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154440483C>T" "" "likely benign" "" "0000624517" "0" "30" "X" "153663843" "153663843" "subst" "0" "01943" "GDI1_000018" "g.153663843G>A" "" "" "" "ATP6AP1(NM_001183.5):c.1195G>A (p.D399N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154435497G>A" "" "likely benign" "" "0000624518" "0" "30" "X" "153668457" "153668457" "subst" "3.91689E-5" "01943" "GDI1_000019" "g.153668457C>T" "" "" "" "GDI1(NM_001493.2):c.558C>T (p.G186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154440110C>T" "" "likely benign" "" "0000659210" "0" "10" "X" "153657149" "153657154" "dup" "0" "02326" "ATP6AP1_000018" "g.153657149_153657154dup" "" "" "" "ATP6AP1(NM_001183.6):c.111_116dupGGCGGC (p.A40_A41dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154428803_154428808dup" "" "benign" "" "0000659211" "0" "30" "X" "153663679" "153663679" "subst" "5.60164E-6" "01943" "GDI1_000022" "g.153663679G>A" "" "" "" "ATP6AP1(NM_001183.4):c.1031G>A (p.(Arg344His)), ATP6AP1(NM_001183.5):c.1031G>A (p.R344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154435333G>A" "" "likely benign" "" "0000659212" "0" "30" "X" "153668848" "153668848" "subst" "5.03482E-5" "01943" "GDI1_000023" "g.153668848T>C" "" "" "" "GDI1(NM_001493.2):c.714T>C (p.F238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154440501T>C" "" "likely benign" "" "0000682279" "0" "30" "X" "153657081" "153657081" "subst" "0.00125163" "02325" "ATP6AP1_000022" "g.153657081C>T" "" "" "" "ATP6AP1(NM_001183.6):c.43C>T (p.R15W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728662" "0" "50" "X" "153660228" "153660228" "subst" "3.91828E-5" "02325" "ATP6AP1_000023" "g.153660228A>G" "" "" "" "ATP6AP1(NM_001183.6):c.341A>G (p.D114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728663" "0" "30" "X" "153663712" "153663712" "subst" "0" "01943" "GDI1_000027" "g.153663712A>T" "" "" "" "ATP6AP1(NM_001183.5):c.1064A>T (p.Y355F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728664" "0" "30" "X" "153667191" "153667191" "subst" "4.47395E-5" "01943" "GDI1_000028" "g.153667191C>T" "" "" "" "GDI1(NM_001493.2):c.234C>T (p.P78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728665" "0" "50" "X" "153667369" "153667369" "subst" "0" "02329" "GDI1_000029" "g.153667369C>G" "" "" "" "GDI1(NM_001493.3):c.271C>G (p.L91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867212" "0" "30" "X" "153664129" "153664129" "subst" "0" "01943" "GDI1_000033" "g.153664129C>T" "" "" "" "ATP6AP1(NM_001183.5):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867213" "0" "50" "X" "153668298" "153668298" "subst" "0" "01943" "GDI1_000034" "g.153668298C>T" "" "" "" "GDI1(NM_001493.2):c.399C>T (p.G133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915654" "0" "70" "X" "153657063" "153657063" "subst" "0" "02327" "ATP6AP1_000024" "g.153657063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915655" "0" "30" "X" "153660248" "153660248" "subst" "0.000986254" "02326" "ATP6AP1_000021" "g.153660248G>C" "" "" "" "ATP6AP1(NM_001183.5):c.361G>C (p.E121Q, p.(Glu121Gln)), ATP6AP1(NM_001183.6):c.361G>C (p.E121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931364" "0" "30" "X" "153657152" "153657154" "del" "0" "02325" "ATP6AP1_000025" "g.153657152_153657154del" "" "" "" "ATP6AP1(NM_001183.6):c.114_116delGGC (p.A41del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970928" "0" "50" "X" "153662651" "153662651" "subst" "1.11855E-5" "02325" "GDI1_000038" "g.153662651A>G" "" "" "" "ATP6AP1(NM_001183.6):c.782A>G (p.N261S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984568" "0" "30" "X" "153660169" "153660169" "del" "0" "01804" "ATP6AP1_000026" "g.153660169del" "" "" "" "ATP6AP1(NM_001183.6):c.289-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984569" "0" "30" "X" "153668830" "153668830" "subst" "0.000123073" "01804" "GDI1_000017" "g.153668830C>T" "" "" "" "GDI1(NM_001493.3):c.696C>T (p.(Gly232=), p.G232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006587" "0" "50" "X" "153663679" "153663679" "subst" "5.60164E-6" "01804" "GDI1_000022" "g.153663679G>A" "" "" "" "ATP6AP1(NM_001183.4):c.1031G>A (p.(Arg344His)), ATP6AP1(NM_001183.5):c.1031G>A (p.R344H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027465" "0" "30" "X" "153667476" "153667476" "subst" "0" "02325" "GDI1_000041" "g.153667476C>T" "" "" "" "GDI1(NM_001493.3):c.378C>T (p.A126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046848" "0" "30" "X" "153663614" "153663614" "subst" "0" "02325" "GDI1_000042" "g.153663614C>A" "" "" "" "ATP6AP1(NM_001183.6):c.972-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046849" "0" "50" "X" "153664160" "153664160" "subst" "0" "02325" "GDI1_000043" "g.153664160A>G" "" "" "" "ATP6AP1(NM_001183.6):c.1336A>G (p.M446V)" "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 ATP6AP1 ## Count = 48 "{{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}}" "0000003347" "00000947" "50" "288" "931" "288" "931" "c.288+931del" "r.(=)" "p.(=)" "" "0000008073" "00000947" "50" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(Arg15=)" "" "0000008074" "00000947" "50" "289" "-1012" "289" "-1012" "c.289-1012T>G" "r.(=)" "p.(=)" "" "0000008075" "00000947" "50" "289" "-135" "289" "-135" "c.289-135C>T" "r.(=)" "p.(=)" "" "0000010253" "00000947" "50" "45" "0" "45" "0" "c.45A>G" "r.(?)" "p.(Arg15=)" "" "0000010254" "00000947" "50" "289" "-135" "289" "-135" "c.289-135C>T" "r.(=)" "p.(=)" "" "0000079618" "00000947" "00" "-91198" "0" "1059605" "0" "c.-91198_*1058192dup" "" "" "" "0000221902" "00000947" "90" "649" "0" "649" "0" "c.649T>A" "r.(?)" "p.(Tyr217Asn)" "6" "0000263291" "00000947" "30" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Glu42Lys)" "" "0000281019" "00000947" "30" "4284" "0" "4284" "0" "c.*2871C>T" "r.(=)" "p.(=)" "" "0000281020" "00000947" "10" "4352" "0" "4352" "0" "c.*2939T>C" "r.(=)" "p.(=)" "" "0000336229" "00000947" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Gly107Ser)" "" "0000336230" "00000947" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000336232" "00000947" "50" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Pro390Leu)" "" "0000336233" "00000947" "50" "1397" "0" "1397" "0" "c.1397T>C" "r.(?)" "p.(Leu466Ser)" "" "0000408062" "00000947" "00" "-86631" "0" "198284" "0" "c.-86631_*196871dup" "r.0?" "p.0?" "" "0000574875" "00000947" "10" "111" "0" "116" "0" "c.111_116dup" "r.(?)" "p.(Ala40_Ala41dup)" "" "0000574877" "00000947" "30" "182" "0" "182" "0" "c.182C>G" "r.(?)" "p.(Ala61Gly)" "" "0000574878" "00000947" "30" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "" "0000574879" "00000947" "30" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "" "0000574880" "00000947" "30" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000574881" "00000947" "70" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Glu346Lys)" "" "0000574882" "00000947" "10" "1162" "0" "1162" "0" "c.1162A>C" "r.(?)" "p.(Thr388Pro)" "" "0000574884" "00000947" "10" "4284" "0" "4284" "0" "c.*2871C>T" "r.(=)" "p.(=)" "" "0000574885" "00000947" "30" "4612" "0" "4612" "0" "c.*3199G>C" "r.(=)" "p.(=)" "" "0000574886" "00000947" "30" "6006" "0" "6006" "0" "c.*4593C>T" "r.(=)" "p.(=)" "" "0000624517" "00000947" "30" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Asp399Asn)" "" "0000624518" "00000947" "30" "5633" "0" "5633" "0" "c.*4220C>T" "r.(=)" "p.(=)" "" "0000659210" "00000947" "10" "111" "0" "116" "0" "c.111_116dup" "r.(?)" "p.(Ala40_Ala41dup)" "" "0000659211" "00000947" "30" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "0000659212" "00000947" "30" "6024" "0" "6024" "0" "c.*4611T>C" "r.(=)" "p.(=)" "" "0000682279" "00000947" "30" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Ter)" "" "0000728662" "00000947" "50" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Asp114Gly)" "" "0000728663" "00000947" "30" "1064" "0" "1064" "0" "c.1064A>T" "r.(?)" "p.(Tyr355Phe)" "" "0000728664" "00000947" "30" "4367" "0" "4367" "0" "c.*2954C>T" "r.(=)" "p.(=)" "" "0000728665" "00000947" "50" "4545" "0" "4545" "0" "c.*3132C>G" "r.(=)" "p.(=)" "" "0000867212" "00000947" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Phe435=)" "" "0000867213" "00000947" "50" "5474" "0" "5474" "0" "c.*4061C>T" "r.(=)" "p.(=)" "" "0000915654" "00000947" "70" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(Arg9*)" "" "0000915655" "00000947" "30" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Glu121Gln)" "" "0000931364" "00000947" "30" "114" "0" "116" "0" "c.114_116del" "r.(?)" "p.(Ala41del)" "" "0000970928" "00000947" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Asn261Ser)" "" "0000984568" "00000947" "30" "289" "-7" "289" "-7" "c.289-7del" "r.(=)" "p.(=)" "" "0000984569" "00000947" "30" "6006" "0" "6006" "0" "c.*4593C>T" "r.(=)" "p.(=)" "" "0001006587" "00000947" "50" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "0001027465" "00000947" "30" "4652" "0" "4652" "0" "c.*3239C>T" "r.(=)" "p.(=)" "" "0001046848" "00000947" "30" "972" "-6" "972" "-6" "c.972-6C>A" "r.(=)" "p.(=)" "" "0001046849" "00000947" "50" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Met446Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003347" "0000000209" "0000008073" "0000000209" "0000008074" "0000000209" "0000008075" "0000000210" "0000010253" "0000000210" "0000010254" "0000050638" "0000079618" "0000132718" "0000221902" "0000184093" "0000408062"