### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CPT1A)
# 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}}"
"CPT1A"	"carnitine palmitoyltransferase 1A"	"11"	"q13.3"	"unknown"	"NC_000011.9"	"UD_145624706240"	""	""	""	"1"	"2328"	"1374"	"600528"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-15 00:00:00"	"00006"	"2023-01-22 17:46:46"	"00006"	"2023-07-02 20:41:52"


## 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}}"
"00000138"	"CPT1A"	"carnitine palmitoyltransferase 1A (liver), transcript variant 1"	"003"	"NM_001876.3"	""	"NP_001867.2"	""	""	""	"-170"	"5083"	"2322"	"68609399"	"68522351"	"00006"	"2022-01-15 19:03:23"	""	""


## 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}}"
"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 = 1
"{{geneid}}"	"{{diseaseid}}"
"CPT1A"	"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 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 = 27
"{{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}}"
"0000016362"	"0"	"77"	"11"	"68582817"	"68582819"	"del"	""	"00006"	"CPT1A_000001"	"g.68582817_68582819del"	"1/53"	""	"Deletion"	""	""
"0000016363"	"0"	"55"	"11"	"68579981"	"68579981"	"subst"	""	"00006"	"CPT1A_000002"	"g.68579981G>A"	"1/53"	""	"Substitution"	""	""
"0000016364"	"0"	"55"	"11"	"68579914"	"68579914"	"subst"	""	"00006"	"CPT1A_000003"	"g.68579914T>C"	"1/53"	""	"Substitution"	""	""
"0000016365"	"0"	"55"	"11"	"68579904"	"68579904"	"subst"	""	"00006"	"CPT1A_000004"	"g.68579904G>A"	"3/53"	""	"Substitution"	""	""
"0000016366"	"0"	"77"	"11"	"68579903"	"68579903"	"subst"	""	"00006"	"CPT1A_000005"	"g.68579903T>C"	"1/53"	""	"Substitution"	""	""
"0000016367"	"0"	"77"	"11"	"68566802"	"68566802"	"del"	""	"00006"	"CPT1A_000006"	"g.68566802del"	"2/53"	""	"Deletion"	""	""
"0000016368"	"0"	"77"	"11"	"68566685"	"68566685"	"subst"	""	"00006"	"CPT1A_000007"	"g.68566685G>A"	"1/53"	""	"Substitution"	""	""
"0000016369"	"0"	"55"	"11"	"68564361"	"68564361"	"subst"	""	"00006"	"CPT1A_000008"	"g.68564361G>A"	"1/53"	""	"Substitution"	""	""
"0000016370"	"0"	"55"	"11"	"68564355"	"68564355"	"subst"	""	"00006"	"CPT1A_000009"	"g.68564355C>T"	"4/53"	""	"Substitution"	""	""
"0000016371"	"0"	"55"	"11"	"68564347"	"68564347"	"subst"	""	"00006"	"CPT1A_000010"	"g.68564347G>T"	"1/53"	""	"Substitution"	""	""
"0000016372"	"0"	"55"	"11"	"68560804"	"68560804"	"subst"	""	"00006"	"CPT1A_000011"	"g.68560804C>T"	"1/53"	""	"Substitution"	""	""
"0000016373"	"0"	"55"	"11"	"68560794"	"68560794"	"subst"	""	"00006"	"CPT1A_000012"	"g.68560794G>T"	"2/53"	""	"Substitution"	""	""
"0000016374"	"0"	"55"	"11"	"68560702"	"68560702"	"subst"	""	"00006"	"CPT1A_000013"	"g.68560702C>T"	"1/53"	""	"Substitution"	""	""
"0000016375"	"0"	"55"	"11"	"68552486"	"68552486"	"subst"	""	"00006"	"CPT1A_000014"	"g.68552486C>T"	"1/53"	""	"Substitution"	""	""
"0000016376"	"0"	"55"	"11"	"68552467"	"68552467"	"subst"	""	"00006"	"CPT1A_000015"	"g.68552467C>T"	"1/53"	""	"Substitution"	""	""
"0000016377"	"0"	"55"	"11"	"68552315"	"68552315"	"subst"	""	"00006"	"CPT1A_000016"	"g.68552315G>C"	"3/53"	""	"Substitution"	""	""
"0000016378"	"0"	"55"	"11"	"68549296"	"68549296"	"subst"	""	"00006"	"CPT1A_000017"	"g.68549296C>T"	"2/53"	""	"Substitution"	""	""
"0000016379"	"0"	"55"	"11"	"68549273"	"68549273"	"subst"	""	"00006"	"CPT1A_000018"	"g.68549273G>A"	"1/53"	""	"Substitution"	""	""
"0000016380"	"0"	"55"	"11"	"68549263"	"68549263"	"subst"	""	"00006"	"CPT1A_000019"	"g.68549263T>C"	"3/53"	""	"Substitution"	""	""
"0000016381"	"0"	"55"	"11"	"68549255"	"68549255"	"subst"	""	"00006"	"CPT1A_000020"	"g.68549255G>A"	"2/53"	""	"Substitution"	""	""
"0000016382"	"0"	"55"	"11"	"68530183"	"68530183"	"subst"	""	"00006"	"CPT1A_000021"	"g.68530183T>C"	"3/53"	""	"Substitution"	""	""
"0000016383"	"0"	"55"	"11"	"68530153"	"68530153"	"subst"	""	"00006"	"CPT1A_000022"	"g.68530153G>A"	"2/53"	""	"Substitution"	""	""
"0000016384"	"0"	"77"	"11"	"68530124"	"68530124"	"subst"	""	"00006"	"CPT1A_000023"	"g.68530124G>A"	"2/53"	""	"Substitution"	""	""
"0000016385"	"0"	"55"	"11"	"68529121"	"68529121"	"subst"	""	"00006"	"CPT1A_000024"	"g.68529121C>A"	"4/53"	""	"Substitution"	""	""
"0000016386"	"0"	"55"	"11"	"68527710"	"68527710"	"subst"	""	"00006"	"CPT1A_000025"	"g.68527710G>A"	"2/53"	""	"Substitution"	""	""
"0000016387"	"0"	"77"	"11"	"68527071"	"68527071"	"subst"	""	"00006"	"CPT1A_000026"	"g.68527071T>C"	"6/53"	""	"Substitution"	""	""
"0000016388"	"0"	"55"	"11"	"68525188"	"68525188"	"subst"	""	"00006"	"CPT1A_000027"	"g.68525188G>A"	"1/53"	""	"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 CPT1A
## Count = 27
"{{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}}"
"0000016362"	"00000138"	"77"	"124"	"0"	"126"	"0"	"c.124_126delAAG"	"2"	"Lys42del"	"r.0?"
"0000016363"	"00000138"	"55"	"205"	"0"	"205"	"0"	"c.205G>A"	"3"	"Val69Met"	"r.0?"
"0000016364"	"00000138"	"55"	"272"	"0"	"272"	"0"	"c.272T>C"	"3"	"Leu91Pro"	"r.0?"
"0000016365"	"00000138"	"55"	"281"	"1"	"281"	"1"	"c.281+1G>A"	"3i"	"-"	"r.0?"
"0000016366"	"00000138"	"77"	"281"	"2"	"281"	"2"	"c.281+2T>C"	"3i"	"-"	"r.0?"
"0000016367"	"00000138"	"77"	"577"	"0"	"577"	"0"	"c.577delC"	"6"	"Met194*"	"r.0?"
"0000016368"	"00000138"	"77"	"693"	"1"	"693"	"1"	"c.693+1G>A"	"6i"	"-"	"r.0?"
"0000016369"	"00000138"	"55"	"734"	"0"	"734"	"0"	"c.734G>A"	"7"	"Arg245Gln"	"r.0?"
"0000016370"	"00000138"	"55"	"740"	"0"	"740"	"0"	"c.740C>T"	"7"	"Pro247Leu"	"r.0?"
"0000016371"	"00000138"	"55"	"748"	"0"	"748"	"0"	"c.748G>T"	"7"	"Val250Leu"	"r.0?"
"0000016372"	"00000138"	"55"	"946"	"0"	"946"	"0"	"c.946C>T"	"9"	"Arg316Trp"	"r.0?"
"0000016373"	"00000138"	"55"	"956"	"0"	"956"	"0"	"c.956G>T"	"9"	"Gly319Val"	"r.0?"
"0000016374"	"00000138"	"55"	"967"	"81"	"967"	"81"	"c.967+81C>T"	"9i"	"-"	"r.0?"
"0000016375"	"00000138"	"55"	"968"	"-8"	"968"	"-8"	"c.968-8C>T"	"9i"	"-"	"r.0?"
"0000016376"	"00000138"	"55"	"979"	"0"	"979"	"0"	"c.979C>T"	"10"	"His327Tyr"	"r.0?"
"0000016377"	"00000138"	"55"	"1131"	"0"	"1131"	"0"	"c.1131G>C"	"10"	"Glu377Asp"	"r.0?"
"0000016378"	"00000138"	"55"	"1295"	"0"	"1295"	"0"	"c.1295C>T"	"11"	"Pro432Leu"	"r.0?"
"0000016379"	"00000138"	"55"	"1318"	"0"	"1318"	"0"	"c.1318G>A"	"11"	"Ala440Thr"	"r.0?"
"0000016380"	"00000138"	"55"	"1328"	"0"	"1328"	"0"	"c.1328T>C"	"11"	"Leu443Pro"	"r.0?"
"0000016381"	"00000138"	"55"	"1336"	"0"	"1336"	"0"	"c.1336G>A"	"11"	"Gly446Ser"	"r.0?"
"0000016382"	"00000138"	"55"	"1787"	"0"	"1787"	"0"	"c.1787T>C"	"15"	"Leu596Pro"	"r.0?"
"0000016383"	"00000138"	"55"	"1817"	"0"	"1817"	"0"	"c.1817G>A"	"15"	"Arg606His"	"r.0?"
"0000016384"	"00000138"	"77"	"1846"	"0"	"1846"	"0"	"c.1846G>A"	"15"	"Val616Met"	"r.0?"
"0000016385"	"00000138"	"55"	"1910"	"0"	"1910"	"0"	"c.1910C>A"	"16"	"Ser637Tyr"	"r.0?"
"0000016386"	"00000138"	"55"	"2125"	"0"	"2125"	"0"	"c.2125G>A"	"17"	"Gly709Arg"	"r.0?"
"0000016387"	"00000138"	"77"	"2201"	"0"	"2201"	"0"	"c.2201T>C"	"18"	"Phe734Ser"	"r.0?"
"0000016388"	"00000138"	"55"	"2246"	"0"	"2246"	"0"	"c.2246G>A"	"19"	"Arg749His"	"r.0?"


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