### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC25A20)
# 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}}"
"SLC25A20"	"solute carrier family 25 member 20"	"3"	"p21.31"	"unknown"	"NC_000003.11"	"UD_144477949546"	""	""	""	"1"	"1421"	"788"	"613698"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-16 00:00:00"	"00006"	"2023-01-22 17:56:19"	"00006"	"2023-07-02 21:02:22"


## 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}}"
"00000140"	"SLC25A20"	"solute carrier family 25 (carnitine/acylcarnitine translocase), member 20"	"001"	"NM_000387.5"	""	"NP_000378.1"	""	""	""	"-199"	"1693"	"906"	"48936426"	"48894356"	"00006"	"2022-01-16 09:21:06"	""	""


## 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}}"
"00014"	"CACTD"	"carnitine-acylcarnitine translocase deficiency"	""	"613698"	""	""	""	"00006"	"2022-01-16 09:15:23"	""	""
"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}}"
"SLC25A20"	"00014"
"SLC25A20"	"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 00014, 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 = 10
"{{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}}"
"0000016404"	"0"	"99"	"3"	"48936227"	"48936227"	"subst"	""	"00006"	"SLC25A20_000001"	"g.48936227A>G"	"3/68"	""	"Substitution"	""	""
"0000016405"	"0"	"99"	"3"	"48936227"	"48936227"	"subst"	""	"00006"	"SLC25A20_000002"	"g.48936227A>T"	"1/68"	""	"Substitution"	""	""
"0000016406"	"0"	"77"	"3"	"48929491"	"48929491"	"del"	""	"00006"	"SLC25A20_000003"	"g.48929491del"	"1/68"	""	"Deletion"	""	""
"0000016407"	"0"	"99"	"3"	"48921567"	"48921567"	"subst"	""	"00006"	"SLC25A20_000004"	"g.48921567T>G"	"53/68"	""	"Substitution"	""	""
"0000016408"	"0"	"77"	"3"	"48921486"	"48921486"	"del"	""	"00006"	"SLC25A20_000005"	"g.48921486del"	"3/68"	""	"Deletion"	""	""
"0000016409"	"0"	"77"	"3"	"48921430"	"48921430"	"del"	""	"00006"	"SLC25A20_000006"	"g.48921430del"	"1/68"	""	"Deletion"	""	""
"0000016410"	"0"	"77"	"3"	"48896065"	"48896072"	"dup"	""	"00006"	"SLC25A20_000008"	"g.48896065_48896072dup"	"2/68"	""	"Duplication"	""	""
"0000016411"	"0"	"77"	"3"	"48895979"	"48895979"	"del"	""	"00006"	"SLC25A20_000010"	"g.48895979del"	"1/68"	""	"Deletion"	""	""
"0000016580"	"0"	"77"	"3"	"48896060"	"48896061"	"ins"	""	"00006"	"SLC25A20_000009"	"g.48896060_48896061insGCTGTGGG"	"2/68"	""	"Insertion"	""	""
"0000016581"	"0"	"77"	"3"	"48897046"	"48897046"	"subst"	""	"00006"	"SLC25A20_000007"	"g.48897046C>A"	"1/68"	""	"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 SLC25A20
## Count = 10
"{{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}}"
"0000016404"	"00000140"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"1"	"Met1Val"	"r.0?"
"0000016405"	"00000140"	"99"	"1"	"0"	"1"	"0"	"c.1A>T"	"1"	"Met1Leu"	"r.0?"
"0000016406"	"00000140"	"77"	"120"	"0"	"120"	"0"	"c.120del"	"2"	"Gln41Serfs*88"	"r.0?"
"0000016407"	"00000140"	"99"	"199"	"-10"	"199"	"-10"	"c.199-10T>G"	"2i"	"-"	"r.0?"
"0000016408"	"00000140"	"77"	"270"	"0"	"270"	"0"	"c.270delC"	"3"	"Phe91Leufs*38"	"r.0?"
"0000016409"	"00000140"	"77"	"326"	"0"	"326"	"0"	"c.326delG"	"3"	"Ser109Thrfs*20"	"r.0?"
"0000016410"	"00000140"	"77"	"719"	"-8"	"719"	"-1"	"c.719-8_719-1dupCCCCACAG"	"7i"	"-"	"r.0?"
"0000016411"	"00000140"	"77"	"804"	"0"	"804"	"0"	"c.804delG"	"8"	"Phe269Serfs*4"	"r.0?"
"0000016580"	"00000140"	"77"	"722"	"0"	"723"	"0"	"c.722_723insCCCACAGC"	"8"	"p.Pro242Thrfs*15"	"r.(?)"
"0000016581"	"00000140"	"77"	"550"	"0"	"550"	"0"	"c.550G>T"	"6"	"p.(Gly184*)"	"r.(?)"


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