### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ANO1)
# 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}}"
"ANO1"	"anoctamin 1, calcium activated chloride channel"	"11"	"q13.2"	"unknown"	"NC_000011.9"	"UD_136019639859"	""	"https://www.LOVD.nl/ANO1"	""	"1"	"21625"	"55107"	"610108"	"1"	"1"	"1"	"1"	"alias ORAOV2, TMEM16A\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/ANO1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2021-03-25 10:13:38"	"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}}"
"00002579"	"ANO1"	"transcript variant 1"	"001"	"NM_018043.5"	""	"NP_060513.5"	""	""	""	"-305"	"4502"	"2961"	"69924408"	"70035651"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{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"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00359553"	""	""	""	"2"	""	"00006"	"{PMID:Park 2021:32487539}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"M"	""	"Syria"	""	"0"	""	""	"Kurdish"	"FamPat2"
"00359555"	""	""	"00359553"	"1"	""	"00006"	"{PMID:Park 2021:32487539}"	"sister"	"F"	""	"Syria"	""	"0"	""	""	"Kurdish"	"FamPat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00359553"	"00198"
"00359555"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198
## 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}}"
"0000254809"	"00198"	"00359553"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., born prematurely 35+1w; pregnancy polyhydramnios; 3w-feeding problems, diarrhoea, weight loss, mild muscular hypotonia; abdominal ultrasound distended intestinal loops; <1y-bilateral cataracts requiring lens replacement, delayed motor and language development required physical and speech therapy, planovalgus feet were treated with orthoses; no signs cystic fibrosis, no dystrophy"	""	""	""	""	""	""	""	""	""	""	""
"0000254810"	"00198"	"00359555"	"00006"	"Familial, autosomal recessive"	"00y05m"	"born 37+2w; pregnancy complicated by polyhydramnios; 7d-recurrent bouts of intestinal disease marked by diarrhoea alternating with reduced intestinal motility; dysmorphic features, arched palate, low set ears, broad philtrum; developed intestinal and hepatic portal venous gas interpreted as atypical NEC corresponding to Bell stage IIB and treated with antibiotics and parenteral nutrition, three similar episodes observed, general state was not severely affected during these bouts of illness; developed dystrophy; bodyweight, length and head circumference all below  third age percentile; 5m-haemorrhagic diarrhoea, projectile vomiting; ultrasound distended intestinal loops, grossly distended abdomen; condition worsened within hours, cardiac arrest, died following a period of prolonged, ultimately unsuccessful cardiopulmonary resuscitation"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000360783"	"00359553"	"1"	"00006"	"00006"	"2021-03-25 10:25:25"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360784"	"00359555"	"1"	"00006"	"00006"	"2021-03-25 10:36:44"	""	""	"SEQ"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000360784"	"ANO1"


## 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 = 19
"{{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}}"
"0000262518"	"0"	"30"	"11"	"69972212"	"69972212"	"subst"	"6.51636E-5"	"01943"	"ANO1_000004"	"g.69972212C>T"	""	""	""	"ANO1(NM_018043.5):c.1008C>T (p.G336=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70126106C>T"	""	"likely benign"	""
"0000262519"	"0"	"50"	"11"	"69934027"	"69934027"	"subst"	"0"	"01943"	"ANO1_000003"	"g.69934027G>T"	""	""	""	"ANO1(NM_018043.5):c.278G>T (p.R93L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70087921G>T"	""	"VUS"	""
"0000322375"	"0"	"50"	"11"	"69933928"	"69933928"	"subst"	"1.2363E-5"	"01804"	"ANO1_000001"	"g.69933928G>A"	""	""	""	"ANO1(NM_018043.5):c.179G>A (p.(Arg60His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70087822G>A"	""	"VUS"	""
"0000322376"	"0"	"50"	"11"	"69934023"	"69934023"	"subst"	"2.97905E-5"	"01804"	"ANO1_000002"	"g.69934023G>A"	""	""	""	"ANO1(NM_018043.5):c.274G>A (p.(Ala92Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70087917G>A"	""	"VUS"	""
"0000322377"	"0"	"50"	"11"	"70033902"	"70033902"	"subst"	"6.29845E-5"	"01804"	"ANO1_000005"	"g.70033902A>T"	""	""	""	"ANO1(NM_018043.5):c.2753A>T (p.(Asp918Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.70187796A>T"	""	"VUS"	""
"0000760891"	"3"	"70"	"11"	"69962608"	"69962611"	"del"	"0"	"00006"	"ANO1_000006"	"g.69962608_69962611del"	""	"{PMID:Park 2021:32487539}"	""	"897+3_897+6delAAGT"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000760892"	"3"	"70"	"11"	"69962608"	"69962611"	"del"	"0"	"00006"	"ANO1_000006"	"g.69962608_69962611del"	""	"{PMID:Park 2021:32487539}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.70116502_70116505del"	""	"likely pathogenic (recessive)"	""
"0000979840"	"0"	"50"	"11"	"69949263"	"69949263"	"subst"	"3.77701E-5"	"01804"	"ANO1_000007"	"g.69949263C>T"	""	""	""	"ANO1(NM_018043.5):c.533C>T (p.(Thr178Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979841"	"0"	"30"	"11"	"69950264"	"69950264"	"subst"	"0.000127959"	"01804"	"ANO1_000008"	"g.69950264G>A"	""	""	""	"ANO1(NM_018043.6):c.692+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999434"	"0"	"50"	"11"	"69933882"	"69933882"	"subst"	"0"	"01804"	"ANO1_000009"	"g.69933882C>G"	""	""	""	"ANO1(NM_018043.5):c.133C>G (p.(Pro45Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999435"	"0"	"30"	"11"	"69951871"	"69951871"	"subst"	"0.000215307"	"01804"	"ANO1_000010"	"g.69951871G>A"	""	""	""	"ANO1(NM_018043.5):c.724G>A (p.(Asp242Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999436"	"0"	"50"	"11"	"69999166"	"69999166"	"subst"	"3.89008E-5"	"01804"	"ANO1_000011"	"g.69999166C>T"	""	""	""	"ANO1(NM_018043.5):c.1357C>T (p.(His453Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000999437"	"0"	"30"	"11"	"70002011"	"70002011"	"subst"	"0.000877416"	"01804"	"ANO1_000012"	"g.70002011C>G"	""	""	""	"ANO1(NM_018043.5):c.1426-6C>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999438"	"0"	"30"	"11"	"70026136"	"70026136"	"subst"	"0.000101532"	"01804"	"ANO1_000013"	"g.70026136A>G"	""	""	""	"ANO1(NM_018043.5):c.2377A>G (p.(Ile793Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000999439"	"0"	"30"	"11"	"70033988"	"70033988"	"subst"	"2.65769E-5"	"01804"	"ANO1_000014"	"g.70033988A>G"	""	""	""	"ANO1(NM_018043.5):c.2839A>G (p.(Thr947Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038723"	"0"	"50"	"11"	"69949211"	"69949211"	"subst"	"4.09199E-6"	"01804"	"ANO1_000015"	"g.69949211C>G"	""	""	""	"ANO1(NM_018043.6):c.481C>G (p.(Pro161Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038724"	"0"	"50"	"11"	"69949276"	"69949276"	"subst"	"0.00023236"	"01804"	"ANO1_000016"	"g.69949276T>G"	""	""	""	"ANO1(NM_018043.6):c.540+6T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053975"	"0"	"50"	"11"	"69951860"	"69951860"	"subst"	"0"	"01804"	"ANO1_000017"	"g.69951860A>T"	""	""	""	"ANO1(NM_018043.6):c.713A>T (p.(Asp238Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053976"	"0"	"30"	"11"	"69951904"	"69951904"	"subst"	"5.28434E-5"	"01804"	"ANO1_000018"	"g.69951904G>A"	""	""	""	"ANO1(NM_018043.6):c.747+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ANO1
## Count = 19
"{{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}}"
"0000262518"	"00002579"	"30"	"1008"	"0"	"1008"	"0"	"c.1008C>T"	"r.(?)"	"p.(Gly336=)"	""
"0000262519"	"00002579"	"50"	"278"	"0"	"278"	"0"	"c.278G>T"	"r.(?)"	"p.(Arg93Leu)"	""
"0000322375"	"00002579"	"50"	"179"	"0"	"179"	"0"	"c.179G>A"	"r.(?)"	"p.(Arg60His)"	""
"0000322376"	"00002579"	"50"	"274"	"0"	"274"	"0"	"c.274G>A"	"r.(?)"	"p.(Ala92Thr)"	""
"0000322377"	"00002579"	"50"	"2753"	"0"	"2753"	"0"	"c.2753A>T"	"r.(?)"	"p.(Asp918Val)"	""
"0000760891"	"00002579"	"70"	"897"	"3"	"897"	"6"	"c.897+3_897+6del"	"r.spl"	"p.?"	""
"0000760892"	"00002579"	"70"	"897"	"3"	"897"	"6"	"c.897+3_897+6del"	"r.spl"	"p.?"	""
"0000979840"	"00002579"	"50"	"533"	"0"	"533"	"0"	"c.533C>T"	"r.(?)"	"p.(Thr178Met)"	""
"0000979841"	"00002579"	"30"	"692"	"8"	"692"	"8"	"c.692+8G>A"	"r.(=)"	"p.(=)"	""
"0000999434"	"00002579"	"50"	"133"	"0"	"133"	"0"	"c.133C>G"	"r.(?)"	"p.(Pro45Ala)"	""
"0000999435"	"00002579"	"30"	"724"	"0"	"724"	"0"	"c.724G>A"	"r.(?)"	"p.(Asp242Asn)"	""
"0000999436"	"00002579"	"50"	"1357"	"0"	"1357"	"0"	"c.1357C>T"	"r.(?)"	"p.(His453Tyr)"	""
"0000999437"	"00002579"	"30"	"1426"	"-6"	"1426"	"-6"	"c.1426-6C>G"	"r.(=)"	"p.(=)"	""
"0000999438"	"00002579"	"30"	"2377"	"0"	"2377"	"0"	"c.2377A>G"	"r.(?)"	"p.(Ile793Val)"	""
"0000999439"	"00002579"	"30"	"2839"	"0"	"2839"	"0"	"c.2839A>G"	"r.(?)"	"p.(Thr947Ala)"	""
"0001038723"	"00002579"	"50"	"481"	"0"	"481"	"0"	"c.481C>G"	"r.(?)"	"p.(Pro161Ala)"	""
"0001038724"	"00002579"	"50"	"540"	"6"	"540"	"6"	"c.540+6T>G"	"r.(=)"	"p.(=)"	""
"0001053975"	"00002579"	"50"	"713"	"0"	"713"	"0"	"c.713A>T"	"r.(?)"	"p.(Asp238Val)"	""
"0001053976"	"00002579"	"30"	"747"	"10"	"747"	"10"	"c.747+10G>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000360783"	"0000760891"
"0000360784"	"0000760892"