### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACAT1)
# 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}}"
"ACAT1"	"acetyl-CoA acetyltransferase 1"	"11"	"q22.3"	"unknown"	"NC_000011.9"	"UD_144473866749"	""	""	""	"1"	"93"	"38"	"607809"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-16 00:00:00"	"00006"	"2023-01-22 15:57:26"	"00006"	"2023-07-02 22:29:38"


## 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}}"
"00000146"	"ACAT1"	"acetyl-CoA acetyltransferase 1"	"001"	"NM_000019.3"	""	"NP_000010.1"	""	""	""	"-76"	"2062"	"1284"	"107992258"	"108018895"	"00006"	"2022-01-16 19:19:28"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00017"	"BKD"	"beta-ketothiolase deficiency"	""	"607809"	""	""	""	"00006"	"2022-01-16 19:10:44"	""	""
"00019"	"WD"	"wilson disease"	"AR"	"277900"	"brain"	"liver dysfunction, neurological features (like tremor,  parkinsonism, dystornia, etc.), Kayser-Fleischer rings, chondrocalcinosis and osteoarthritis..."	"low ceruloplasmin, Kayser-Fleischer rings, abnormalities of the basal ganglia..."	"00009"	"2023-08-21 15:46:32"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ACAT1"	"00017"
"ACAT1"	"00019"


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


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


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00017, 00019
## Count = 0


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


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


## 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/Type}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/classclinical}}"
"0000016492"	"0"	"77"	"11"	"107992406"	"107992406"	"subst"	""	"00006"	"ACAT1_000001"	"g.107992406G>A"	"2/59"	""	"Substitution"	""	""
"0000016493"	"0"	"77"	"11"	"108002644"	"108002645"	"del"	""	"00006"	"ACAT1_000002"	"g.108002644_108002645del"	"1/59"	""	"Deletion"	""	""
"0000016494"	"0"	"55"	"11"	"108004544"	"108004544"	"subst"	""	"00006"	"ACAT1_000003"	"g.108004544C>G"	"3/59"	""	"Substitution"	""	""
"0000016495"	"0"	"55"	"11"	"108004589"	"108004589"	"subst"	""	"00006"	"ACAT1_000004"	"g.108004589T>A"	"1/59"	""	"Substitution"	""	""
"0000016496"	"0"	"77"	"11"	"108004655"	"108004655"	"del"	""	"00006"	"ACAT1_000005"	"g.108004655del"	"1/59"	""	"Deletion"	""	""
"0000016497"	"0"	"77"	"11"	"108004665"	"108004665"	"subst"	""	"00006"	"ACAT1_000006"	"g.108004665G>A"	"1/59"	""	"Substitution"	""	""
"0000016498"	"0"	"77"	"11"	"108005888"	"108005889"	"del"	""	"00006"	"ACAT1_000008"	"g.108005888_108005889delinsG"	"1/59"	""	"Insertion/Deletion"	""	""
"0000016499"	"0"	"55"	"11"	"108005907"	"108005907"	"subst"	""	"00006"	"ACAT1_000009"	"g.108005907G>T"	"2/59"	""	"Substitution"	""	""
"0000016500"	"0"	"55"	"11"	"108005935"	"108005935"	"subst"	""	"00006"	"ACAT1_000010"	"g.108005935T>C"	"1/59"	""	"Substitution"	""	""
"0000016501"	"0"	"55"	"11"	"108005953"	"108005953"	"subst"	""	"00006"	"ACAT1_000011"	"g.108005953T>G"	"4/59"	""	"Substitution"	""	""
"0000016502"	"0"	"55"	"11"	"108009670"	"108009670"	"subst"	""	"00006"	"ACAT1_000013"	"g.108009670T>C"	"1/59"	""	"Substitution"	""	""
"0000016503"	"0"	"77"	"11"	"108010834"	"108010834"	"subst"	""	"00006"	"ACAT1_000014"	"g.108010834C>T"	"10/59"	""	"Substitution"	""	""
"0000016504"	"0"	"55"	"11"	"108010843"	"108010843"	"subst"	""	"00006"	"ACAT1_000015"	"g.108010843C>A"	"2/59"	""	"Substitution"	""	""
"0000016505"	"0"	"77"	"11"	"108010854"	"108010854"	"subst"	""	"00006"	"ACAT1_000016"	"g.108010854T>G"	"1/59"	""	"Substitution"	""	""
"0000016506"	"0"	"55"	"11"	"108010865"	"108010865"	"subst"	""	"00006"	"ACAT1_000017"	"g.108010865C>T"	"3/59"	""	"Substitution"	""	""
"0000016507"	"0"	"77"	"11"	"108010933"	"108010933"	"dup"	""	"00006"	"ACAT1_000018"	"g.108010933dup"	"1/59"	""	"Duplication"	""	""
"0000016508"	"0"	"55"	"11"	"108012357"	"108012359"	"del"	""	"00006"	"ACAT1_000019"	"g.108012357_108012359del"	"1/59"	""	"Deletion"	""	""
"0000016509"	"0"	"55"	"11"	"108013166"	"108013166"	"subst"	""	"00006"	"ACAT1_000020"	"g.108013166A>C"	"1/59"	""	"Substitution"	""	""
"0000016510"	"0"	"55"	"11"	"108013227"	"108013227"	"subst"	""	"00006"	"ACAT1_000021"	"g.108013227C>A"	"1/59"	""	"Substitution"	""	""
"0000016511"	"0"	"55"	"11"	"108013265"	"108013265"	"subst"	""	"00006"	"ACAT1_000022"	"g.108013265G>C"	"1/59"	""	"Substitution"	""	""
"0000016512"	"0"	"55"	"11"	"108014766"	"108014766"	"subst"	""	"00006"	"ACAT1_000023"	"g.108014766G>C"	"4/59"	""	"Substitution"	""	""
"0000016513"	"0"	"77"	"11"	"108016928"	"108016928"	"subst"	""	"00006"	"ACAT1_000024"	"g.108016928G>C"	"5/59"	""	"Substitution"	""	""
"0000016514"	"0"	"77"	"11"	"108017042"	"108017042"	"dup"	""	"00006"	"ACAT1_000025"	"g.108017042dup"	"1/59"	""	"Duplication"	""	""
"0000016515"	"0"	"77"	"11"	"108017047"	"108017047"	"subst"	""	"00006"	"ACAT1_000026"	"g.108017047A>G"	"5/59"	""	"Substitution"	""	""
"0000016516"	"0"	"55"	"11"	"108017077"	"108017077"	"subst"	""	"00006"	"ACAT1_000027"	"g.108017077A>T"	"1/59"	""	"Substitution"	""	""
"0000016517"	"0"	"55"	"11"	"108017086"	"108017086"	"subst"	""	"00006"	"ACAT1_000028"	"g.108017086G>T"	"1/59"	""	"Substitution"	""	""
"0000016671"	"0"	"99"	"11"	"108009665"	"108018370"	"del"	""	"00006"	"ACAT1_000012"	"g.108009665_108018370del"	"2/59"	""	"Deletion"	""	""
"0000016672"	"0"	"55"	"11"	"108004984"	"108004984"	"subst"	""	"00006"	"ACAT1_000007"	"g.108004984G>A"	"1/59"	""	"Substitution"	""	""


## 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 ACAT1
## Count = 28
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"
"0000016492"	"00000146"	"77"	"72"	"1"	"72"	"1"	"c.72+1G>A"	"1i"	"-"	"r.0?"
"0000016493"	"00000146"	"77"	"83"	"0"	"84"	"0"	"c.83_84del"	"2"	"Tyr28Cysfs*38"	"r.0?"
"0000016494"	"00000146"	"55"	"121"	"-3"	"121"	"-3"	"c.121-3C>G"	"2i"	"-"	"r.0?"
"0000016495"	"00000146"	"55"	"163"	"0"	"163"	"0"	"c.163T>A"	"3"	"Phe55Ile"	"r.0?"
"0000016496"	"00000146"	"77"	"229"	"0"	"229"	"0"	"c.229del"	"3"	"Glu77Lysfs*10"	"r.0?"
"0000016497"	"00000146"	"77"	"238"	"1"	"238"	"1"	"c.238+1G>A"	"3i"	"-"	"r.0?"
"0000016498"	"00000146"	"77"	"354"	"0"	"355"	"0"	"c.354_355delinsG"	"5"	"Cys119Valfs*4"	"r.0？"
"0000016499"	"00000146"	"55"	"373"	"0"	"373"	"0"	"c.373G>T"	"5"	"Val125Phe"	"r.0?"
"0000016500"	"00000146"	"55"	"401"	"0"	"401"	"0"	"c.401T>C"	"5"	"Met134Thr"	"r.0?"
"0000016501"	"00000146"	"55"	"419"	"0"	"419"	"0"	"c.419T>G"	"5"	"Leu140Arg"	"r.0?"
"0000016502"	"00000146"	"55"	"481"	"0"	"481"	"0"	"c.481T>C"	"6"	"Tyr161His"	"r.0?"
"0000016503"	"00000146"	"77"	"622"	"0"	"622"	"0"	"c.622C>T"	"7"	"Arg208*"	"r.0?"
"0000016504"	"00000146"	"55"	"631"	"0"	"631"	"0"	"c.631C>A"	"7"	"Gln211Lys"	"r.0?"
"0000016505"	"00000146"	"77"	"642"	"0"	"642"	"0"	"c.642T>G"	"7"	"Tyr214*"	"r.0?"
"0000016506"	"00000146"	"55"	"653"	"0"	"653"	"0"	"c.653C>T"	"7"	"Ser218Phe"	"r.0?"
"0000016507"	"00000146"	"77"	"721"	"0"	"721"	"0"	"c.721dup"	"7"	"Thr241Asnfs*14"	"r.0?"
"0000016508"	"00000146"	"55"	"756"	"0"	"758"	"0"	"c.756_758del"	"8"	"Glu252del"	"r.0?"
"0000016509"	"00000146"	"55"	"829"	"0"	"829"	"0"	"c.829A>C"	"9"	"Thr277Pro"	"r.0?"
"0000016510"	"00000146"	"55"	"890"	"0"	"890"	"0"	"c.890C>A"	"9"	"Thr297Lys"	"r.0?"
"0000016511"	"00000146"	"55"	"928"	"0"	"928"	"0"	"c.928G>C"	"9"	"Ala310Pro"	"r.0?"
"0000016512"	"00000146"	"55"	"997"	"0"	"997"	"0"	"c.997G>C"	"10"	"Ala333Pro"	"r.0?"
"0000016513"	"00000146"	"77"	"1006"	"-1"	"1006"	"-1"	"c.1006-1G>C"	"10i"	"-"	"r.0?"
"0000016514"	"00000146"	"77"	"1119"	"0"	"1119"	"0"	"c.1119dup"	"11"	"Val374Serfs*86"	"r.0?"
"0000016515"	"00000146"	"77"	"1124"	"0"	"1124"	"0"	"c.1124A>G"	"11"	"Asn375Ser"	"r.0?"
"0000016516"	"00000146"	"55"	"1154"	"0"	"1154"	"0"	"c.1154A>T"	"11"	"His385Leu"	"r.0?"
"0000016517"	"00000146"	"55"	"1163"	"0"	"1163"	"0"	"c.1163G>T"	"11"	"Gly388Val"	"r.0?"
"0000016671"	"00000146"	"99"	"476"	"0"	"1537"	"0"	"c.476_*253del"	"6i_12i"	"p.(Val159_Leu427delinsAspMetValGluIleProMetCysAsnIleSerAspLeuHisLys)"	"r.(?)"
"0000016672"	"00000146"	"55"	"275"	"0"	"275"	"0"	"c.275G>A"	"4"	"p.(Gly92Asp)"	"r.(?)"


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