### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP6V0A4) # 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}}" "ATP6V0A4" "ATPase, H+ transporting, lysosomal V0 subunit a4" "7" "q34" "unknown" "NG_008145.1" "UD_132118301385" "" "http://www.LOVD.nl/ATP6V0A4" "" "1" "866" "50617" "605239" "1" "1" "1" "1" "Alias: ATP6N1B, ATP6N2\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ATP6V0A4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-12-18 08:07:57" "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}}" "00003116" "ATP6V0A4" "transcript variant 1" "002" "NM_020632.2" "" "NP_065683.2" "" "" "" "-283" "2853" "2523" "138482941" "138391039" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02437" "RTADR" "acidosis, tubular, renal, distal, autosomal recessive (RTADR)" "" "602722" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-18 05:43:30" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATP6V0A4" "02437" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00056391" "" "" "" "1" "" "00006" "{PMID:Kose 2014:24564331}, {DOI:Kose 2014:10.3109/0886022X.2014.890055}" "" "F" "yes" "Turkey" ">18y" "0" "" "" "" "" "00056393" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">10y" "0" "" "" "" "" "00056394" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" ">06y06m" "0" "" "" "" "" "00056395" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" ">22y" "0" "" "" "" "" "00056396" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "M" "yes" "Turkey" ">14y" "0" "" "" "" "" "00056397" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">04y" "0" "" "" "" "" "00056398" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" ">11y" "0" "" "" "" "" "00056399" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" ">13y" "0" "" "" "" "" "00056401" "" "" "" "1" "" "00006" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" ">03y" "0" "" "" "" "" "00080997" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00294333" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305901" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "16" "00395064" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "?" "" "(Italy)" "" "0" "" "" "" "K102" "00414341" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00056391" "02437" "00056391" "04294" "00056393" "02437" "00056394" "02437" "00056395" "02437" "00056396" "02437" "00056397" "02437" "00056398" "02437" "00056399" "02437" "00056401" "02437" "00080997" "02437" "00294333" "00198" "00305901" "02437" "00395064" "04214" "00414341" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02437, 04214, 04294 ## Count = 14 "{{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}}" "0000043000" "02437" "00056391" "00006" "Isolated (sporadic)" "18y" "see paper, extensive description" "03y" "" "weight loss, recurrent urinary tract infections" "" "" "" "" "" "" "" "" "0000043001" "04294" "00056391" "00006" "Isolated (sporadic)" "" "see paper; extensive description" "03y" "" "bilateral SNHL" "" "" "" "" "" "" "" "" "0000043007" "02437" "00056393" "00006" "Isolated (sporadic)" "09y" "no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.12, serum HCO3- 11.0mM, serum K+ 3.1mM, urine pH 7.0" "" "01y" "" "" "" "" "" "" "" "" "" "0000043008" "02437" "00056394" "00006" "Isolated (sporadic)" "4y6m" "no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.4mM, urine pH 8.0" "" "21d" "" "" "" "" "" "" "" "" "" "0000043009" "02437" "00056395" "00006" "Isolated (sporadic)" "4y" "history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.25, serum HCO3- 12.0mM, serum K+ 32.7mM, urine pH 7.6" "" "7d" "" "" "" "" "" "" "" "" "" "0000043010" "02437" "00056396" "00006" "Isolated (sporadic)" "12y" "no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.10, serum HCO3- 12.0mM, serum K+ 2.8mM, urine pH 7.5" "" "3m" "" "" "" "" "" "" "" "" "" "0000043011" "02437" "00056397" "00006" "Isolated (sporadic)" "2y6m" "history of rickets (HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.23, serum HCO3- 16.0mM, serum K+ 2.1mM, urine pH 6.8" "" "8m" "" "" "" "" "" "" "" "" "" "0000043012" "02437" "00056398" "00006" "Isolated (sporadic)" "9y" "no history of rickets (-HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 5.5mM, serum K+ 2.2mM, urine pH 7.0" "" "3m" "" "" "" "" "" "" "" "" "" "0000043013" "02437" "00056399" "00006" "Isolated (sporadic)" "" "no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.21, serum HCO3- 14.0mM, serum K+ 2.8mM, urine pH 7.5" "" "5m" "" "" "" "" "" "" "" "" "" "0000043015" "02437" "00056401" "00006" "Isolated (sporadic)" "1y" "history of rickets (HP:0002748), no hypercalciuria (-HP:0002150), arterial pH 7.10, serum HCO3- 6.1mM, serum K+ 2.1mM, urine pH 7.0" "" "6m" "" "" "" "" "" "" "" "" "" "0000060566" "02437" "00080997" "01758" "Familial, autosomal recessive" "" "Renal tubular acidosis, distal, autosomal recessive (OMIM:602722)" "" "" "" "" "" "" "" "" "" "" "" "0000231748" "02437" "00305901" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000288264" "04214" "00395064" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Tubulopathy (proximal renal tubular acidosis)" "" "" "0000306176" "00198" "00414341" "00000" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Distal Renal Tubular Acidosis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000056351" "00056391" "1" "00006" "00006" "2015-12-18 05:52:39" "" "" "PCR;SEQ" "DNA" "" "" "0000056353" "00056393" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056354" "00056394" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056355" "00056395" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056356" "00056396" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056357" "00056397" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056358" "00056398" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056359" "00056399" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000056361" "00056401" "1" "00006" "00006" "2015-12-18 08:20:55" "" "" "SEQ" "DNA" "" "" "0000081109" "00080997" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000295501" "00294333" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307032" "00305901" "1" "03695" "03695" "2020-07-05 15:16:37" "" "" "SEQ-NG" "DNA" "" "" "0000396310" "00395064" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000415621" "00414341" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000056351" "ATP6V0A4" "0000056353" "ATP6V0A4" "0000056354" "ATP6V0A4" "0000056355" "ATP6V0A4" "0000056356" "ATP6V0A4" "0000056357" "ATP6V0A4" "0000056358" "ATP6V0A4" "0000056359" "ATP6V0A4" "0000056361" "ATP6V0A4" "0000081109" "ATP6V0A4" "0000307032" "ATP6V0A4" "0000396310" "ATP6V0A4" "0000415621" "ATP6V0A4" ## 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 = 66 "{{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}}" "0000086590" "3" "91" "7" "138455988" "138455988" "subst" "0.693458" "00006" "ATP6V0A4_000001" "g.138455988A>G" "" "{PMID:Kose 2014:24564331}, {DOI:Kose 2014:10.3109/0886022X.2014.890055}" "" "" "NOTE: variant reported as disease associated (RTADR, SNHL) which is in conflict with the frequency observed in controls (up to 70%)" "Unknown" "" "rs10258719" "0" "" "" "g.138771243A>G" "" "pathogenic" "" "0000086592" "3" "90" "7" "138400509" "138400509" "subst" "2.03056E-5" "00006" "ATP6V0A4_000002" "g.138400509G>A" "1/9 cases" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0001}" "" "Q753X" "" "Germline" "yes" "rs121908367" "0" "" "" "g.138715764G>A" "" "pathogenic" "" "0000086593" "3" "90" "7" "138424286" "138424286" "subst" "2.03199E-5" "00006" "ATP6V0A4_000003" "g.138424286G>A" "rs121908368" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0008}" "" "P524L" "" "Germline" "yes" "" "0" "" "" "g.138739541G>A" "" "pathogenic" "" "0000086594" "0" "90" "7" "138437572" "138437572" "del" "0" "00006" "ATP6V0A4_000000" "g.138437572del" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0007}" "" "Q276fs" "" "Germline" "yes" "" "0" "" "" "g.138752827del" "" "pathogenic" "" "0000086595" "3" "90" "7" "138447771" "138447771" "subst" "4.06474E-6" "00006" "ATP6V0A4_000004" "g.138447771C>T" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0006}" "" "IVS6-1G>A" "in OMIM erroneously linked to rs587776617" "Germline" "yes" "" "0" "" "" "g.138763026C>T" "" "pathogenic" "" "0000086596" "3" "90" "7" "138417791" "138417791" "subst" "0.0654627" "00006" "ATP6V0A4_000005" "g.138417791A>G" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0005}" "" "M580T" "" "Germline" "yes" "rs3807153" "0" "" "" "g.138733046A>G" "" "pathogenic" "" "0000086597" "3" "90" "7" "138455889" "138455889" "del" "0" "00006" "ATP6V0A4_000006" "g.138455889del" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0004}" "" "V35fs" "" "Germline" "yes" "rs587776616" "0" "" "" "g.138771144del" "" "pathogenic" "" "0000086598" "3" "90" "7" "138418880" "138418880" "subst" "1.21886E-5" "00006" "ATP6V0A4_000007" "g.138418880C>T" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0003}" "" "IVS17+1G>A" "" "Germline" "yes" "rs587776615" "0" "" "" "g.138734135C>T" "" "pathogenic" "" "0000086599" "3" "90" "7" "138391434" "138391434" "subst" "4.87654E-5" "00006" "ATP6V0A4_000008" "g.138391434C>T" "" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}, {OMIM/605239:0002}" "" "G>A (G820R)" "" "Germline" "yes" "rs267606671" "0" "" "" "g.138706689C>T" "" "pathogenic" "" "0000086600" "1" "11" "7" "138455988" "138455988" "subst" "0.693458" "00006" "ATP6V0A4_000001" "g.138455988A>G" "0.72 controls" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "" "C>G (A2V)" "ethnically matched controls" "Germline" "-" "" "0" "" "" "g.138771243A>G" "" "benign" "" "0000086601" "1" "10" "7" "138418910" "138418910" "subst" "0.7341" "00006" "ATP6V0A4_000009" "g.138418910G>A" "0.68 controls" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "" "T>C (F554F)" "etnically matched controls" "Germline" "-" "" "0" "" "" "g.138734165G>A" "" "benign" "" "0000086602" "0" "10" "7" "138417718" "138417718" "subst" "0.729169" "00006" "ATP6V0A4_000010" "g.138417718A>G" "0.68 controls" "{PMID:Smith 2000:10973252}, {DOI:Smith 2000:10.1038/79208}" "" "C>T (H604H)" "ethnically matched controls" "Germline" "-" "" "0" "" "" "g.138732973A>G" "" "benign" "" "0000130195" "3" "90" "7" "138447771" "138447771" "subst" "4.06474E-6" "01758" "ATP6V0A4_000004" "g.138447771C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.138763026C>T" "" "pathogenic" "ACMG" "0000248590" "0" "10" "7" "138417718" "138417718" "subst" "0.729169" "02325" "ATP6V0A4_000010" "g.138417718A>G" "" "" "" "ATP6V0A4(NM_020632.3):c.1812T>C (p.H604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138732973A>G" "" "benign" "" "0000248937" "0" "10" "7" "138455988" "138455988" "subst" "0.693458" "02325" "ATP6V0A4_000001" "g.138455988A>G" "" "" "" "ATP6V0A4(NM_020632.3):c.5T>C (p.V2A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138771243A>G" "" "benign" "" "0000250709" "0" "10" "7" "138434080" "138434080" "del" "0" "02326" "ATP6V0A4_000017" "g.138434080del" "" "" "" "ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138749335del" "" "benign" "" "0000251124" "0" "10" "7" "138417791" "138417791" "subst" "0.0654627" "02326" "ATP6V0A4_000005" "g.138417791A>G" "" "" "" "ATP6V0A4(NM_020632.3):c.1739T>C (p.M580T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138733046A>G" "" "benign" "" "0000251390" "0" "30" "7" "138417609" "138417609" "del" "0" "02326" "ATP6V0A4_000011" "g.138417609del" "" "" "" "ATP6V0A4(NM_020632.3):c.1908+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138732864del" "" "likely benign" "" "0000253061" "0" "10" "7" "138434080" "138434080" "del" "0" "01943" "ATP6V0A4_000017" "g.138434080del" "" "" "" "ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138749335del" "" "benign" "" "0000259194" "0" "10" "7" "138429851" "138429851" "subst" "0.187712" "02325" "ATP6V0A4_000015" "g.138429851T>C" "" "" "" "ATP6V0A4(NM_020632.3):c.1478+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138745106T>C" "" "benign" "" "0000259195" "0" "10" "7" "138418910" "138418910" "subst" "0.7341" "02325" "ATP6V0A4_000009" "g.138418910G>A" "" "" "" "ATP6V0A4(NM_020632.3):c.1662C>T (p.F554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138734165G>A" "" "benign" "" "0000259196" "0" "10" "7" "138453907" "138453908" "del" "0" "02325" "ATP6V0A4_000021" "g.138453907_138453908del" "" "" "" "ATP6V0A4(NM_020632.3):c.196+24_196+25delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138769162_138769163del" "" "benign" "" "0000260251" "0" "90" "7" "138432309" "138432309" "del" "0" "02329" "ATP6V0A4_000016" "g.138432309del" "" "" "" "ATP6V0A4(NM_020632.3):c.1185delC (p.Y396Tfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138747564del" "" "pathogenic" "" "0000261206" "0" "10" "7" "138424300" "138424300" "subst" "0.00691939" "02326" "ATP6V0A4_000014" "g.138424300C>T" "" "" "" "ATP6V0A4(NM_020632.3):c.1557G>A (p.P519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138739555C>T" "" "benign" "" "0000261207" "0" "30" "7" "138417608" "138417609" "del" "0" "02326" "ATP6V0A4_000012" "g.138417608_138417609del" "" "" "" "ATP6V0A4(NM_020632.3):c.1908+24_1908+25delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138732863_138732864del" "" "likely benign" "" "0000261209" "0" "10" "7" "138453908" "138453908" "del" "0" "02326" "ATP6V0A4_000020" "g.138453908del" "" "" "" "ATP6V0A4(NM_020632.3):c.196+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138769163del" "" "benign" "" "0000261210" "0" "10" "7" "138447631" "138447631" "subst" "0.0117122" "02326" "ATP6V0A4_000019" "g.138447631C>G" "" "" "" "ATP6V0A4(NM_020632.3):c.417+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138762886C>G" "" "benign" "" "0000337187" "0" "10" "7" "138429851" "138429851" "subst" "0.187712" "02327" "ATP6V0A4_000015" "g.138429851T>C" "" "" "" "ATP6V0A4(NM_020632.3):c.1478+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138745106T>C" "" "benign" "" "0000337188" "0" "10" "7" "138447631" "138447631" "subst" "0.0117122" "02327" "ATP6V0A4_000019" "g.138447631C>G" "" "" "" "ATP6V0A4(NM_020632.3):c.417+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138762886C>G" "" "benign" "" "0000340812" "0" "10" "7" "138417718" "138417718" "subst" "0.729169" "02327" "ATP6V0A4_000010" "g.138417718A>G" "" "" "" "ATP6V0A4(NM_020632.3):c.1812T>C (p.H604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138732973A>G" "" "benign" "" "0000340885" "0" "10" "7" "138418910" "138418910" "subst" "0.7341" "02327" "ATP6V0A4_000009" "g.138418910G>A" "" "" "" "ATP6V0A4(NM_020632.3):c.1662C>T (p.F554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138734165G>A" "" "benign" "" "0000341533" "0" "10" "7" "138417642" "138417642" "subst" "0.0135447" "02327" "ATP6V0A4_000023" "g.138417642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138732897C>T" "" "benign" "" "0000342920" "0" "50" "7" "138430001" "138430001" "subst" "2.43671E-5" "02327" "ATP6V0A4_000026" "g.138430001G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138745256G>A" "" "VUS" "" "0000342921" "0" "70" "7" "138430000" "138430000" "subst" "1.21838E-5" "02327" "ATP6V0A4_000025" "g.138430000C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138745255C>T" "" "likely pathogenic" "" "0000343158" "0" "90" "7" "138455977" "138455977" "subst" "1.62443E-5" "02327" "ATP6V0A4_000030" "g.138455977G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138771232G>A" "" "pathogenic" "" "0000343384" "0" "90" "7" "138394379" "138394379" "subst" "2.43849E-5" "02327" "ATP6V0A4_000022" "g.138394379G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138709634G>A" "" "pathogenic" "" "0000349811" "0" "90" "7" "138429871" "138429871" "subst" "0" "02327" "ATP6V0A4_000024" "g.138429871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138745126C>T" "" "pathogenic" "" "0000350466" "0" "10" "7" "138455988" "138455988" "subst" "0.693458" "02327" "ATP6V0A4_000001" "g.138455988A>G" "" "" "" "ATP6V0A4(NM_020632.3):c.5T>C (p.V2A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138771243A>G" "" "benign" "" "0000350906" "0" "90" "7" "138418880" "138418880" "subst" "1.21886E-5" "02327" "ATP6V0A4_000007" "g.138418880C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138734135C>T" "" "pathogenic" "" "0000530943" "0" "10" "7" "138417609" "138417609" "dup" "0" "02325" "ATP6V0A4_000031" "g.138417609dup" "" "" "" "ATP6V0A4(NM_020632.3):c.1908+25dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138732864dup" "" "benign" "" "0000530945" "0" "10" "7" "138434080" "138434080" "del" "0" "01804" "ATP6V0A4_000017" "g.138434080del" "" "" "" "ATP6V0A4(NM_020632.2):c.1030-5del (p.?), ATP6V0A4(NM_020632.2):c.1030-5delT, ATP6V0A4(NM_020632.3):c.1030-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138749335del" "" "benign" "" "0000530946" "0" "50" "7" "138437536" "138437536" "subst" "0" "02327" "ATP6V0A4_000033" "g.138437536G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138752791G>T" "" "VUS" "" "0000530947" "0" "10" "7" "138447812" "138447812" "subst" "0.00482694" "02326" "ATP6V0A4_000034" "g.138447812T>C" "" "" "" "ATP6V0A4(NM_020632.3):c.292-42A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138763067T>C" "" "benign" "" "0000652190" "1" "10" "7" "138434059" "138434059" "subst" "0" "03575" "ATP6V0A4_000035" "g.138434059G>T" "10/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs61747674}" "Germline" "" "rs61747674" "0" "" "" "g.138749314G>T" "" "benign" "" "0000673568" "0" "90" "7" "138444496" "138444496" "subst" "0" "03695" "ATP6V0A4_000036" "g.138444496C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000721296" "0" "30" "7" "138437397" "138437397" "subst" "8.13345E-5" "01943" "ATP6V0A4_000037" "g.138437397A>G" "" "" "" "ATP6V0A4(NM_020632.2):c.1002T>C (p.R334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802951" "0" "30" "7" "138394386" "138394386" "subst" "0.000138172" "01943" "ATP6V0A4_000040" "g.138394386G>A" "" "" "" "ATP6V0A4(NM_020632.2):c.2412C>T (p.H804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802952" "0" "30" "7" "138400635" "138400635" "subst" "0.000540102" "01943" "ATP6V0A4_000041" "g.138400635C>T" "" "" "" "ATP6V0A4(NM_020632.2):c.2140-9G>A, ATP6V0A4(NM_020632.3):c.2140-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802953" "0" "90" "7" "138429866" "138429866" "subst" "1.21824E-5" "02327" "ATP6V0A4_000042" "g.138429866A>C" "" "" "" "ATP6V0A4(NM_020632.3):c.1478+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000827879" "0" "50" "7" "138434080" "138434080" "del" "0" "00000" "ATP6V0A4_000017" "g.138434080del" "" "{PMID:Zacchia 2021:33964006}" "" "ATP6V0A4 c.1030-6T>-, spl" "c.1030-6delT automapped to c.1030-5del, heterozygous; unsolved" "Unknown" "?" "" "0" "" "" "g.138749335del" "" "VUS" "ACMG" "0000860653" "0" "30" "7" "138406668" "138406668" "subst" "2.03095E-5" "01804" "ATP6V0A4_000043" "g.138406668C>T" "" "" "" "ATP6V0A4(NM_020632.2):c.2113G>A (p.(Gly705Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860654" "0" "10" "7" "138406746" "138406746" "subst" "0.00600237" "02327" "ATP6V0A4_000044" "g.138406746C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860655" "0" "10" "7" "138434076" "138434076" "subst" "0" "01804" "ATP6V0A4_000045" "g.138434076A>T" "" "" "" "ATP6V0A4(NM_020632.2):c.1030-14T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873448" "0" "70" "7" "138433912" "138433912" "subst" "0" "00000" "ATP6V0A4_000046" "g.138433912C>T" "108" "{PMID:Sun 2018:30076350}" "" "ATP6V0A4(NM_020632.2):c.1180G>A(p.A394T)/c.620_621insC(p.L208Sfs*33 )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.138749167C>T" "" "likely pathogenic" "" "0000873449" "0" "70" "7" "138444519" "138444519" "dup" "0" "00000" "ATP6V0A4_000047" "g.138444519dup" "108" "{PMID:Sun 2018:30076350}" "" "ATP6V0A4(NM_020632.2):c.1180G>A(p.A394T)/c.620_621insC(p.L208Sfs*33 )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.138759774dup" "" "likely pathogenic" "" "0000887686" "0" "30" "7" "138394492" "138394492" "subst" "0.00364114" "02326" "ATP6V0A4_000048" "g.138394492G>A" "" "" "" "ATP6V0A4(NM_020632.3):c.2306C>T (p.T769M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887687" "0" "30" "7" "138418931" "138418931" "subst" "0.00266811" "02326" "ATP6V0A4_000049" "g.138418931C>T" "" "" "" "ATP6V0A4(NM_020632.3):c.1641G>A (p.L547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887688" "0" "30" "7" "138440415" "138440415" "subst" "0.00144703" "02326" "ATP6V0A4_000050" "g.138440415G>A" "" "" "" "ATP6V0A4(NM_020632.3):c.816+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887689" "0" "50" "7" "138453918" "138453918" "subst" "2.88572E-5" "02327" "ATP6V0A4_000051" "g.138453918G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912671" "0" "30" "7" "138434080" "138434080" "dup" "0" "02326" "ATP6V0A4_000052" "g.138434080dup" "" "" "" "ATP6V0A4(NM_020632.3):c.1030-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929300" "0" "30" "7" "138400635" "138400635" "subst" "0.000540102" "02326" "ATP6V0A4_000041" "g.138400635C>T" "" "" "" "ATP6V0A4(NM_020632.2):c.2140-9G>A, ATP6V0A4(NM_020632.3):c.2140-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996227" "0" "30" "7" "138424359" "138424359" "subst" "0.00242141" "02326" "ATP6V0A4_000053" "g.138424359T>C" "" "" "" "ATP6V0A4(NM_020632.3):c.1498A>G (p.S500G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996228" "0" "90" "7" "138429866" "138429866" "subst" "1.21824E-5" "02326" "ATP6V0A4_000042" "g.138429866A>C" "" "" "" "ATP6V0A4(NM_020632.3):c.1478+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046107" "0" "90" "7" "138447725" "138447725" "del" "0" "02326" "ATP6V0A4_000054" "g.138447725del" "" "" "" "ATP6V0A4(NM_020632.3):c.338delA (p.N113Tfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001052855" "0" "50" "7" "138400617" "138400617" "subst" "0" "01804" "ATP6V0A4_000055" "g.138400617C>T" "" "" "" "ATP6V0A4(NM_020632.3):c.2149G>A (p.(Gly717Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052856" "0" "50" "7" "138444537" "138444537" "subst" "1.62429E-5" "01804" "ATP6V0A4_000056" "g.138444537T>C" "" "" "" "ATP6V0A4(NM_020632.3):c.599A>G (p.(Lys200Arg))" "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 ATP6V0A4 ## Count = 66 "{{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}}" "0000086590" "00003116" "91" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Val2Ala)" "3" "0000086592" "00003116" "90" "2257" "0" "2257" "0" "c.2257C>T" "r.(spl?)" "p.(Gln753*?)" "20" "0000086593" "00003116" "90" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Pro524Leu)" "15" "0000086594" "00003116" "90" "829" "0" "829" "0" "c.(829del)" "r.(?)" "p.(Thr277Glnfs*26)" "11" "0000086595" "00003116" "90" "292" "-1" "292" "-1" "c.292-1G>A" "r.spl" "p.?" "5i" "0000086596" "00003116" "90" "1739" "0" "1739" "0" "c.1739T>C" "r.(?)" "p.(Met580Thr)" "17" "0000086597" "00003116" "90" "105" "0" "105" "0" "c.105del" "r.(?)" "p.(Gln36Serfs*5)" "3" "0000086598" "00003116" "90" "1691" "1" "1691" "1" "c.1691+1G>A" "r.spl" "p.?" "16i" "0000086599" "00003116" "90" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Gly820Arg)" "22" "0000086600" "00003116" "11" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Val2Ala)" "3" "0000086601" "00003116" "10" "1662" "0" "1662" "0" "c.1662C>T" "r.(=)" "p.(Phe554=)" "16" "0000086602" "00003116" "10" "1812" "0" "1812" "0" "c.1812T>C" "r.(=)" "p.(His604=)" "17" "0000130195" "00003116" "90" "292" "-1" "292" "-1" "c.292-1G>A" "r.spl?" "p.?" "" "0000248590" "00003116" "10" "1812" "0" "1812" "0" "c.1812T>C" "r.(?)" "p.(His604=)" "" "0000248937" "00003116" "10" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Val2Ala)" "" "0000250709" "00003116" "10" "1030" "-5" "1030" "-5" "c.1030-5del" "r.spl?" "p.?" "" "0000251124" "00003116" "10" "1739" "0" "1739" "0" "c.1739T>C" "r.(?)" "p.(Met580Thr)" "" "0000251390" "00003116" "30" "1908" "25" "1908" "25" "c.1908+25del" "r.(=)" "p.(=)" "" "0000253061" "00003116" "10" "1030" "-5" "1030" "-5" "c.1030-5del" "r.spl?" "p.?" "" "0000259194" "00003116" "10" "1478" "17" "1478" "17" "c.1478+17A>G" "r.(=)" "p.(=)" "" "0000259195" "00003116" "10" "1662" "0" "1662" "0" "c.1662C>T" "r.(?)" "p.(Phe554=)" "" "0000259196" "00003116" "10" "196" "24" "196" "25" "c.196+24_196+25del" "r.(=)" "p.(=)" "" "0000260251" "00003116" "90" "1185" "0" "1185" "0" "c.1185del" "r.(?)" "p.(Tyr396ThrfsTer12)" "" "0000261206" "00003116" "10" "1557" "0" "1557" "0" "c.1557G>A" "r.(?)" "p.(Pro519=)" "" "0000261207" "00003116" "30" "1908" "24" "1908" "25" "c.1908+24_1908+25del" "r.(=)" "p.(=)" "" "0000261209" "00003116" "10" "196" "25" "196" "25" "c.196+25del" "r.(=)" "p.(=)" "" "0000261210" "00003116" "10" "417" "14" "417" "14" "c.417+14G>C" "r.(=)" "p.(=)" "" "0000337187" "00003116" "10" "1478" "17" "1478" "17" "c.1478+17A>G" "r.(=)" "p.(=)" "" "0000337188" "00003116" "10" "417" "14" "417" "14" "c.417+14G>C" "r.(=)" "p.(=)" "" "0000340812" "00003116" "10" "1812" "0" "1812" "0" "c.1812T>C" "r.(?)" "p.(His604=)" "" "0000340885" "00003116" "10" "1662" "0" "1662" "0" "c.1662C>T" "r.(?)" "p.(Phe554=)" "" "0000341533" "00003116" "10" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Ala630Thr)" "" "0000342920" "00003116" "50" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Cys)" "" "0000342921" "00003116" "70" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Arg449His)" "" "0000343158" "00003116" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Arg6Ter)" "" "0000343384" "00003116" "90" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Arg807Ter)" "" "0000349811" "00003116" "90" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Trp492Ter)" "" "0000350466" "00003116" "10" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Val2Ala)" "" "0000350906" "00003116" "90" "1691" "1" "1691" "1" "c.1691+1G>A" "r.spl?" "p.?" "" "0000530943" "00003116" "10" "1908" "25" "1908" "25" "c.1908+25dup" "r.(=)" "p.(=)" "" "0000530945" "00003116" "10" "1030" "-5" "1030" "-5" "c.1030-5del" "r.spl?" "p.?" "" "0000530946" "00003116" "50" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Ala288Asp)" "" "0000530947" "00003116" "10" "292" "-42" "292" "-42" "c.292-42A>G" "r.(=)" "p.(=)" "" "0000652190" "00003116" "10" "1033" "0" "1033" "0" "c.1033C>A" "r.(?)" "p.(Leu345Ile)" "" "0000673568" "00003116" "90" "639" "1" "639" "1" "c.639+1G>A" "r.spl?" "p.?" "" "0000721296" "00003116" "30" "1002" "0" "1002" "0" "c.1002T>C" "r.(?)" "p.(Arg334=)" "" "0000802951" "00003116" "30" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(His804=)" "" "0000802952" "00003116" "30" "2140" "-9" "2140" "-9" "c.2140-9G>A" "r.(=)" "p.(=)" "" "0000802953" "00003116" "90" "1478" "2" "1478" "2" "c.1478+2T>G" "r.spl?" "p.?" "" "0000827879" "00003116" "50" "1030" "-5" "1030" "-5" "c.1030-5del" "r.spl" "p.(?)" "" "0000860653" "00003116" "30" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Gly705Arg)" "" "0000860654" "00003116" "10" "2035" "0" "2035" "0" "c.2035G>T" "r.(?)" "p.(Asp679Tyr)" "" "0000860655" "00003116" "10" "1030" "-14" "1030" "-14" "c.1030-14T>A" "r.(=)" "p.(=)" "" "0000873448" "00003116" "70" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" "0000873449" "00003116" "70" "620" "0" "620" "0" "c.620dup" "r.(?)" "p.(Leu208Serfs*33)" "" "0000887686" "00003116" "30" "2306" "0" "2306" "0" "c.2306C>T" "r.(?)" "p.(Thr769Met)" "" "0000887687" "00003116" "30" "1641" "0" "1641" "0" "c.1641G>A" "r.(?)" "p.(Leu547=)" "" "0000887688" "00003116" "30" "816" "19" "816" "19" "c.816+19C>T" "r.(=)" "p.(=)" "" "0000887689" "00003116" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Cys)" "" "0000912671" "00003116" "30" "1030" "-5" "1030" "-5" "c.1030-5dup" "r.spl?" "p.?" "" "0000929300" "00003116" "30" "2140" "-9" "2140" "-9" "c.2140-9G>A" "r.(=)" "p.(=)" "" "0000996227" "00003116" "30" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Ser500Gly)" "" "0000996228" "00003116" "90" "1478" "2" "1478" "2" "c.1478+2T>G" "r.spl?" "p.?" "" "0001046107" "00003116" "90" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Asn113Thrfs*5)" "" "0001052855" "00003116" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Gly717Arg)" "" "0001052856" "00003116" "50" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(Lys200Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000056351" "0000086590" "0000056353" "0000086592" "0000056354" "0000086599" "0000056355" "0000086598" "0000056356" "0000086597" "0000056357" "0000086596" "0000056358" "0000086595" "0000056359" "0000086594" "0000056361" "0000086593" "0000081109" "0000130195" "0000295501" "0000652190" "0000307032" "0000673568" "0000396310" "0000827879" "0000415621" "0000873448" "0000415621" "0000873449"