### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATP6V1B2)
# 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}}"
"ATP6V1B2"	"ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2"	"8"	"p21.3"	"unknown"	"NC_000008.10"	"UD_132439484751"	""	"http://www.LOVD.nl/ATP6V1B2"	""	"1"	"854"	"526"	"606939"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/ATP6V1B2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-03-27 18:19:49"	"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}}"
"00003102"	"ATP6V1B2"	"ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2"	"001"	"NM_001693.3"	""	"NP_001684.2"	""	""	""	"-214"	"2830"	"1536"	"20054704"	"20079207"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"04237"	"DDOD"	"deafness-onychodystrophy, dominant (DDOD)"	"AD"	"124480"	""	""	""	"00081"	"2015-04-04 22:00:53"	"00006"	"2021-12-10 21:51:32"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"04371"	"ZLS2"	"Zimmermann-Laband syndrome, type 2 (ZLS2)"	"AD"	"616455"	""	""	""	"00000"	"2015-09-23 10:25:22"	"00006"	"2021-12-10 21:51:32"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05362"	"LIS"	"lissencephaly"	""	""	""	""	""	"00006"	"2017-12-29 12:16:43"	"00006"	"2023-11-27 09:41:55"
"05458"	"DFN"	"deafness, nonsyndromic (DFN)"	""	""	""	""	""	"00006"	"2018-07-12 10:48:26"	""	""
"05610"	"ZLS"	"Zimmermann-Laband syndrome (ZLS)"	""	""	""	""	""	"00006"	"2019-06-11 17:18:31"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"ATP6V1B2"	"04237"
"ATP6V1B2"	"04371"
"ATP6V1B2"	"05610"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00037514"	""	""	""	"1"	""	"00081"	"{PMID:Yuan et al 2014:24913193}"	""	"F"	"no"	"China"	""	"0"	""	""	"Asian"	""
"00111405"	""	""	""	"1"	""	"00729"	"{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}"	""	"F"	"no"	""	""	"0"	""	""	""	"S_065"
"00218061"	""	""	""	"6"	""	"01362"	"III.3"	""	"F"	"no"	"Poland"	""	"0"	""	""	""	""
"00384963"	""	""	""	"1"	""	"03974"	""	""	""	""	""	""	"0"	""	""	""	""
"00465486"	""	""	""	"1"	""	"00006"	"{PMID:Wu 2019:31581539}"	"analysis 1291 cases hearing loss"	""	""	"Taiwan"	""	"0"	""	""	""	""
"00467541"	""	""	""	"1"	""	"04656"	"{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}"	"family"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"HLMS09"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00037514"	"04237"
"00111405"	"04371"
"00218061"	"04270"
"00384963"	"05458"
"00465486"	"05086"
"00467541"	"05362"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04237, 04270, 04371, 05086, 05362, 05458, 05610
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000028296"	"04237"	"00037514"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""
"0000087490"	"04371"	"00111405"	"00729"	"Isolated (sporadic)"	""	"Severe ID, hypotonia, microcephaly, three seizures"	""	""	""	""	""	""	""	""	""
"0000173071"	"04270"	"00218061"	"01362"	"Familial, autosomal dominant"	""	"Generalised epilepsy\r\nIntellectual Disability\r\nGingival Abnormalities\r\nNail Abnormalities"	""	""	""	""	""	""	""	""	""
"0000351034"	"05086"	"00465486"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"congenital deafness with onychodystrophy"
"0000352751"	"05362"	"00467541"	"04656"	"Unknown"	""	"severe hearing loss"	""	""	""	""	""	""	""	""	"hearing loss"


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000037583"	"00037514"	"1"	"00081"	"00081"	"2015-04-04 22:09:21"	""	""	"SEQ-NG"	"DNA"	""	""
"0000111869"	"00111405"	"1"	"00729"	"00729"	"2017-08-03 07:23:47"	""	""	"SEQ-NG"	"DNA"	""	""
"0000231685"	"00218061"	"1"	"01362"	"01362"	"2019-04-17 03:41:32"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"blood"	""
"0000386190"	"00384963"	"1"	"03974"	"03974"	"2021-10-05 21:04:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000467135"	"00465486"	"1"	"00006"	"00006"	"2025-05-19 19:24:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"213-gene panel"
"0000469204"	"00467541"	"1"	"04656"	"00006"	"2025-10-16 12:16:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{geneid}}"
"0000037583"	"ATP6V1B2"
"0000111869"	"ATP6V1B2"
"0000231685"	"ATP6V1B2"
"0000386190"	"ATP6V1B2"


## 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 = 28
"{{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}}"
"0000064711"	"0"	"00"	"8"	"20077893"	"20077893"	"subst"	"0"	"00081"	"ATP6V1B2_000001"	"g.20077893C>T"	""	"{PMID:Yuan et al 2014:24913193}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.20220382C>T"	""	""	""
"0000179027"	"0"	"70"	"8"	"20073965"	"20073965"	"subst"	"0"	"00729"	"ATP6V1B2_000002"	"g.20073965G>C"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.20216454G>C"	""	"likely pathogenic"	"ACMG"
"0000263319"	"0"	"30"	"8"	"20073994"	"20073994"	"subst"	"0"	"01943"	"ATP6V1B2_000004"	"g.20073994G>A"	""	""	""	"ATP6V1B2(NM_001693.3):c.1149G>A (p.L383=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.20216483G>A"	""	"likely benign"	""
"0000263320"	"0"	"30"	"8"	"20054983"	"20054983"	"subst"	"2.65389E-5"	"01943"	"ATP6V1B2_000003"	"g.20054983T>G"	""	""	""	"ATP6V1B2(NM_001693.3):c.66T>G (p.G22=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.20197472T>G"	""	"likely benign"	""
"0000473757"	"0"	"90"	"8"	"20074761"	"20074761"	"subst"	"0"	"01362"	"ATP6V1B2_000005"	"g.20074761C>G"	""	"Publication describing variant submitted; EJMG."	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.20217250C>G"	""	"pathogenic (dominant)"	""
"0000534525"	"0"	"50"	"8"	"20068775"	"20068775"	"subst"	"0"	"02327"	"ATP6V1B2_000006"	"g.20068775C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20211264C>T"	""	"VUS"	""
"0000534526"	"0"	"50"	"8"	"20075724"	"20075724"	"subst"	"0"	"01804"	"ATP6V1B2_000007"	"g.20075724G>A"	""	""	""	"ATP6V1B2(NM_001693.3):c.1327G>A (p.(Ala443Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20218213G>A"	""	"VUS"	""
"0000534527"	"0"	"90"	"8"	"20077893"	"20077893"	"subst"	"0"	"01943"	"ATP6V1B2_000001"	"g.20077893C>T"	""	""	""	"ATP6V1B2(NM_001693.3):c.1516C>T (p.R506*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20220382C>T"	""	"pathogenic"	""
"0000611582"	"0"	"50"	"8"	"20062034"	"20062034"	"subst"	"0"	"02325"	"ATP6V1B2_000009"	"g.20062034T>C"	""	""	""	"ATP6V1B2(NM_001693.4):c.176T>C (p.I59T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20204523T>C"	""	"VUS"	""
"0000622052"	"0"	"50"	"8"	"20054931"	"20054939"	"dup"	"0"	"02325"	"ATP6V1B2_000008"	"g.20054931_20054939dup"	""	""	""	"ATP6V1B2(NM_001693.4):c.14_22dupCGATGCGGG (p.A5_R7dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.20197420_20197428dup"	""	"VUS"	""
"0000803587"	"0"	"30"	"8"	"20074763"	"20074763"	"subst"	"0.000125962"	"01943"	"ATP6V1B2_000010"	"g.20074763A>G"	""	""	""	"ATP6V1B2(NM_001693.3):c.1194A>G (p.L398=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000813593"	"0"	"90"	"8"	"20077893"	"20077893"	"subst"	"0"	"03974"	"ATP6V1B2_000001"	"g.20077893C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.20220382C>T"	""	"pathogenic"	""
"0000861178"	"0"	"30"	"8"	"20073976"	"20073976"	"subst"	"0.00387808"	"01943"	"ATP6V1B2_000011"	"g.20073976C>A"	""	""	""	"ATP6V1B2(NM_001693.3):c.1131C>A (p.I377=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888300"	"0"	"50"	"8"	"20072437"	"20072437"	"subst"	"8.13253E-6"	"02325"	"ATP6V1B2_000012"	"g.20072437G>A"	""	""	""	"ATP6V1B2(NM_001693.4):c.1036G>A (p.G346S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888301"	"0"	"30"	"8"	"20073985"	"20073985"	"subst"	"3.6633E-5"	"02327"	"ATP6V1B2_000013"	"g.20073985C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888302"	"0"	"90"	"8"	"20077887"	"20077887"	"subst"	"0"	"02327"	"ATP6V1B2_000014"	"g.20077887T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000924860"	"0"	"50"	"8"	"20069244"	"20069244"	"subst"	"4.15065E-6"	"02325"	"ATP6V1B2_000015"	"g.20069244A>G"	""	""	""	"ATP6V1B2(NM_001693.4):c.685A>G (p.I229V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924861"	"0"	"90"	"8"	"20077854"	"20077854"	"subst"	"0"	"02327"	"ATP6V1B2_000016"	"g.20077854A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000978161"	"0"	"50"	"8"	"20070331"	"20070331"	"subst"	"4.06669E-6"	"01804"	"ATP6V1B2_000017"	"g.20070331C>T"	""	""	""	"ATP6V1B2(NM_001693.4):c.842C>T (p.(Thr281Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978162"	"0"	"30"	"8"	"20075801"	"20075801"	"subst"	"0"	"01804"	"ATP6V1B2_000018"	"g.20075801G>A"	""	""	""	"ATP6V1B2(NM_001693.4):c.1396+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997093"	"0"	"30"	"8"	"20054928"	"20054928"	"subst"	"0.00443152"	"01804"	"ATP6V1B2_000019"	"g.20054928G>A"	""	""	""	"ATP6V1B2(NM_001693.3):c.11G>A (p.(Arg4Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997094"	"0"	"30"	"8"	"20054931"	"20054931"	"subst"	"4.78847E-5"	"01804"	"ATP6V1B2_000020"	"g.20054931C>T"	""	""	""	"ATP6V1B2(NM_001693.3):c.14C>T (p.(Ala5Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997095"	"0"	"50"	"8"	"20069248"	"20069248"	"subst"	"0"	"01804"	"ATP6V1B2_000021"	"g.20069248T>G"	""	""	""	"ATP6V1B2(NM_001693.3):c.689T>G (p.(Val230Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001036908"	"0"	"50"	"8"	"20069692"	"20069692"	"subst"	"0"	"01804"	"ATP6V1B2_000022"	"g.20069692A>G"	""	""	""	"ATP6V1B2(NM_001693.4):c.785A>G (p.(Asn262Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001036909"	"0"	"50"	"8"	"20077908"	"20077908"	"subst"	"0"	"01804"	"ATP6V1B2_000023"	"g.20077908C>T"	""	""	""	"ATP6V1B2(NM_001693.4):c.1531C>T (p.(His511Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044904"	"1"	"90"	"8"	"20077893"	"20077893"	"subst"	"0"	"00006"	"ATP6V1B2_000001"	"g.20077893C>T"	"1/1291 cases hearing loss"	"{PMID:Wu 2019:31581539}"	""	""	"combination of alleles not reported"	"Germline"	""	""	"0"	""	""	"g.20220382C>T"	""	"pathogenic (dominant)"	""
"0001049409"	"0"	"50"	"8"	"20070345"	"20070345"	"subst"	"0"	"04656"	"ATP6V1B2_000024"	"g.20070345G>T"	""	"{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.20212834G>T"	""	"VUS"	""
"0001052961"	"0"	"50"	"8"	"20077817"	"20077817"	"subst"	"0"	"01804"	"ATP6V1B2_000025"	"g.20077817C>T"	""	""	""	"ATP6V1B2(NM_001693.4):c.1440C>T (p.(Gly480=))"	"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 ATP6V1B2
## Count = 28
"{{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}}"
"0000064711"	"00003102"	"00"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r.(?)"	"p.(Arg506*)"	"14"
"0000179027"	"00003102"	"70"	"1120"	"0"	"1120"	"0"	"c.1120G>C"	"r.(?)"	"p.(Glu374Gln)"	""
"0000263319"	"00003102"	"30"	"1149"	"0"	"1149"	"0"	"c.1149G>A"	"r.(?)"	"p.(Leu383=)"	""
"0000263320"	"00003102"	"30"	"66"	"0"	"66"	"0"	"c.66T>G"	"r.(?)"	"p.(Gly22=)"	""
"0000473757"	"00003102"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>G"	"r.(?)"	"p.(Leu398Val)"	"12"
"0000534525"	"00003102"	"50"	"551"	"0"	"551"	"0"	"c.551C>T"	"r.(?)"	"p.(Ala184Val)"	""
"0000534526"	"00003102"	"50"	"1327"	"0"	"1327"	"0"	"c.1327G>A"	"r.(?)"	"p.(Ala443Thr)"	""
"0000534527"	"00003102"	"90"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r.(?)"	"p.(Arg506Ter)"	""
"0000611582"	"00003102"	"50"	"176"	"0"	"176"	"0"	"c.176T>C"	"r.(?)"	"p.(Ile59Thr)"	""
"0000622052"	"00003102"	"50"	"14"	"0"	"22"	"0"	"c.14_22dup"	"r.(?)"	"p.(Ala5_Arg7dup)"	""
"0000803587"	"00003102"	"30"	"1194"	"0"	"1194"	"0"	"c.1194A>G"	"r.(?)"	"p.(Leu398=)"	""
"0000813593"	"00003102"	"90"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r.(1516c>u)"	"p.(Arg506*)"	""
"0000861178"	"00003102"	"30"	"1131"	"0"	"1131"	"0"	"c.1131C>A"	"r.(?)"	"p.(Ile377=)"	""
"0000888300"	"00003102"	"50"	"1036"	"0"	"1036"	"0"	"c.1036G>A"	"r.(?)"	"p.(Gly346Ser)"	""
"0000888301"	"00003102"	"30"	"1140"	"0"	"1140"	"0"	"c.1140C>G"	"r.(?)"	"p.(Asp380Glu)"	""
"0000888302"	"00003102"	"90"	"1510"	"0"	"1510"	"0"	"c.1510T>G"	"r.(?)"	"p.(Tyr504Asp)"	""
"0000924860"	"00003102"	"50"	"685"	"0"	"685"	"0"	"c.685A>G"	"r.(?)"	"p.(Ile229Val)"	""
"0000924861"	"00003102"	"90"	"1477"	"0"	"1477"	"0"	"c.1477A>T"	"r.(?)"	"p.(Lys493*)"	""
"0000978161"	"00003102"	"50"	"842"	"0"	"842"	"0"	"c.842C>T"	"r.(?)"	"p.(Thr281Ile)"	""
"0000978162"	"00003102"	"30"	"1396"	"8"	"1396"	"8"	"c.1396+8G>A"	"r.(=)"	"p.(=)"	""
"0000997093"	"00003102"	"30"	"11"	"0"	"11"	"0"	"c.11G>A"	"r.(?)"	"p.(Arg4Gln)"	""
"0000997094"	"00003102"	"30"	"14"	"0"	"14"	"0"	"c.14C>T"	"r.(?)"	"p.(Ala5Val)"	""
"0000997095"	"00003102"	"50"	"689"	"0"	"689"	"0"	"c.689T>G"	"r.(?)"	"p.(Val230Gly)"	""
"0001036908"	"00003102"	"50"	"785"	"0"	"785"	"0"	"c.785A>G"	"r.(?)"	"p.(Asn262Ser)"	""
"0001036909"	"00003102"	"50"	"1531"	"0"	"1531"	"0"	"c.1531C>T"	"r.(?)"	"p.(His511Tyr)"	""
"0001044904"	"00003102"	"90"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r,(?)"	"p.(Arg506Ter)"	""
"0001049409"	"00003102"	"50"	"856"	"0"	"856"	"0"	"c.856G>T"	"r.(?)"	"p.(Ala286Ser)"	""
"0001052961"	"00003102"	"50"	"1440"	"0"	"1440"	"0"	"c.1440C>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000037583"	"0000064711"
"0000111869"	"0000179027"
"0000231685"	"0000473757"
"0000386190"	"0000813593"
"0000467135"	"0001044904"
"0000469204"	"0001049409"