### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CPT2)
# 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}}"
"CPT2"	"carnitine palmitoyltransferase 2"	"1"	"p32.3"	"unknown"	"NC_000001.10"	"UD_144475293014"	""	""	""	"1"	"2330"	"1376"	"600650"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-15 00:00:00"	"00006"	"2023-01-22 17:50:27"	"00006"	"2023-07-02 20:52:34"


## 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}}"
"00000139"	"CPT2"	"carnitine palmitoyltransferase 2"	"001"	"NM_000098.2"	""	"NP_000089.1"	""	""	""	"-515"	"2579"	"1977"	"53662101"	"53679869"	"00006"	"2022-01-15 20:45:53"	""	""


## 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}}"
"CPT2"	"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 = 15
"{{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}}"
"0000016389"	"0"	"55"	"1"	"53675828"	"53675828"	"subst"	""	"00006"	"CPT2_000001"	"g.53675828G>A"	"1/28"	""	"Substitution"	""	""
"0000016390"	"0"	"55"	"1"	"53675866"	"53675866"	"subst"	""	"00006"	"CPT2_000002"	"g.53675866G>A"	"1/28"	""	"Substitution"	""	""
"0000016391"	"0"	"77"	"1"	"53676232"	"53676232"	"subst"	""	"00006"	"CPT2_000003"	"g.53676232C>T"	"1/28"	""	"Substitution"	""	""
"0000016392"	"0"	"77"	"1"	"53676242"	"53676252"	"dup"	""	"00006"	"CPT2_000004"	"g.53676242_53676252dup"	"2/28"	""	"Duplication"	""	""
"0000016393"	"0"	"77"	"1"	"53676335"	"53676335"	"dup"	""	"00006"	"CPT2_000005"	"g.53676335dup"	"1/28"	""	"Duplication"	""	""
"0000016394"	"0"	"55"	"1"	"53676400"	"53676400"	"subst"	""	"00006"	"CPT2_000006"	"g.53676400T>C"	"2/28"	""	"Substitution"	""	""
"0000016395"	"0"	"77"	"1"	"53676401"	"53676401"	"subst"	""	"00006"	"CPT2_000007"	"g.53676401T>G"	"5/28"	""	"Substitution"	""	""
"0000016396"	"0"	"55"	"1"	"53676448"	"53676448"	"subst"	""	"00006"	"CPT2_000008"	"g.53676448G>A"	"4/28"	""	"Substitution"	""	""
"0000016397"	"0"	"55"	"1"	"53676453"	"53676453"	"subst"	""	"00006"	"CPT2_000009"	"g.53676453C>G"	"1/28"	""	"Substitution"	""	""
"0000016398"	"0"	"55"	"1"	"53676494"	"53676494"	"subst"	""	"00006"	"CPT2_000010"	"g.53676494T>A"	"1/28"	""	"Substitution"	""	""
"0000016399"	"0"	"55"	"1"	"53676647"	"53676647"	"subst"	""	"00006"	"CPT2_000011"	"g.53676647T>C"	"2/28"	""	"Substitution"	""	""
"0000016400"	"0"	"55"	"1"	"53676835"	"53676835"	"subst"	""	"00006"	"CPT2_000012"	"g.53676835G>A"	"1/28"	""	"Substitution"	""	""
"0000016401"	"0"	"55"	"1"	"53676839"	"53676839"	"subst"	""	"00006"	"CPT2_000013"	"g.53676839G>T"	"1/28"	""	"Substitution"	""	""
"0000016402"	"0"	"77"	"1"	"53679001"	"53679001"	"subst"	""	"00006"	"CPT2_000014"	"g.53679001C>A"	"4/28"	""	"Substitution"	""	""
"0000016403"	"0"	"55"	"1"	"53679229"	"53679229"	"subst"	""	"00006"	"CPT2_000015"	"g.53679229A>G"	"1/28"	""	"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 CPT2
## Count = 15
"{{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}}"
"0000016389"	"00000139"	"55"	"482"	"0"	"482"	"0"	"c.482G>A"	"4"	"Arg161Gln"	"r.0?"
"0000016390"	"00000139"	"55"	"520"	"0"	"520"	"0"	"c.520G>A"	"4"	"Glu174Lys"	"r.0?"
"0000016391"	"00000139"	"77"	"886"	"0"	"886"	"0"	"c.886C>T"	"4"	"Arg296*"	"r.0?"
"0000016392"	"00000139"	"77"	"896"	"0"	"906"	"0"	"c.896_906dup"	"4"	"Arg303Glyfs*8"	"r.0?"
"0000016393"	"00000139"	"77"	"989"	"0"	"989"	"0"	"c.989dupT"	"4"	"Ile332Hisfs*2"	"r.0?"
"0000016394"	"00000139"	"55"	"1054"	"0"	"1054"	"0"	"c.1054T>C"	"4"	"Phe352Leu"	"r.0?"
"0000016395"	"00000139"	"77"	"1055"	"0"	"1055"	"0"	"c.1055T>G"	"4"	"Phe352Cys"	"r.0?"
"0000016396"	"00000139"	"55"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"4"	"Val368Ile"	"r.0?"
"0000016397"	"00000139"	"55"	"1107"	"0"	"1107"	"0"	"c.1107C>G"	"4"	"His369Gln"	"r.0?"
"0000016398"	"00000139"	"55"	"1148"	"0"	"1148"	"0"	"c.1148T>A"	"4"	"Phe383Tyr"	"r.0?"
"0000016399"	"00000139"	"55"	"1301"	"0"	"1301"	"0"	"c.1301T>C"	"4"	"Phe434Ser"	"r.0?"
"0000016400"	"00000139"	"55"	"1489"	"0"	"1489"	"0"	"c.1489G>A"	"4"	"Gly497Ser"	"r.0？"
"0000016401"	"00000139"	"55"	"1493"	"0"	"1493"	"0"	"c.1493G>T"	"4"	"Arg498Leu"	"r.0?"
"0000016402"	"00000139"	"77"	"1711"	"0"	"1711"	"0"	"c.1711C>A"	"5"	"Pro571Thr"	"r.0?"
"0000016403"	"00000139"	"55"	"1939"	"0"	"1939"	"0"	"c.1939A>G"	"5"	"Met647Val"	"r.0?"


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