### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ACADS)
# 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}}"
"ACADS"	"acyl-CoA dehydrogenase short chain"	"12"	"q24.31"	"unknown"	"NC_000012.11"	"UD_144439263974"	""	""	""	"1"	"90"	"35"	"606885"	"0"	"0"	"0"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00006"	"2022-01-15 00:00:00"	"00006"	"2023-01-22 15:52:42"	"00006"	"2023-07-01 11:52:40"


## 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}}"
"00000136"	"ACADS"	"acyl-CoA dehydrogenase, C-2 to C-3 short chain"	"002"	"NM_000017.2"	""	"NP_000008.1"	""	""	""	"-118"	"1799"	"1239"	"121163571"	"121177811"	"00006"	"2022-01-15 09:35:15"	""	""


## 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}}"
"00010"	"SCADD"	"Short-chain acyl-coenzyme A dehydrogenase deficiency"	""	"606885"	"skeletal muscle"	""	""	"00006"	"2022-01-15 09:06:24"	""	""
"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}}"
"ACADS"	"00010"
"ACADS"	"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 00010, 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 = 38
"{{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}}"
"0000016265"	"0"	"55"	"12"	"121164859"	"121164859"	"subst"	""	"00006"	"ACADS_000001"	"g.121164859A>G"	"2/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016266"	"0"	"55"	"12"	"121164861"	"121164861"	"subst"	""	"00006"	"ACADS_000002"	"g.121164861A>C"	"1/179"	""	"Substitution"	""	""
"0000016267"	"0"	"99"	"12"	"121164946"	"121164946"	"subst"	""	"00006"	"ACADS_000003"	"g.121164946C>T"	"28/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016268"	"0"	"55"	"12"	"121174811"	"121174811"	"subst"	""	"00006"	"ACADS_000004"	"g.121174811G>A"	"1/179"	"{PMID:weizhou et al. (2021):34869113}"	"Substitution"	""	""
"0000016269"	"0"	"55"	"12"	"121174846"	"121174846"	"subst"	""	"00006"	"ACADS_000005"	"g.121174846G>A"	"2/179"	""	"Substitution"	""	""
"0000016270"	"0"	"55"	"12"	"121174871"	"121174871"	"subst"	""	"00006"	"ACADS_000006"	"g.121174871A>G"	"4/179"	""	"Substitution"	""	""
"0000016271"	"0"	"55"	"12"	"121174879"	"121174879"	"subst"	""	"00006"	"ACADS_000007"	"g.121174879G>T"	"1/179"	""	"Substitution"	""	""
"0000016272"	"0"	"55"	"12"	"121174900"	"121174900"	"subst"	""	"00006"	"ACADS_000008"	"g.121174900G>A"	"4/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016273"	"0"	"77"	"12"	"121174915"	"121174915"	"subst"	""	"00006"	"ACADS_000009"	"g.121174915G>A"	"2/179"	""	"Substitution"	""	""
"0000016274"	"0"	"55"	"12"	"121174924"	"121174924"	"subst"	""	"00006"	"ACADS_000010"	"g.121174924A>G"	"1/179"	""	"Substitution"	""	""
"0000016275"	"0"	"55"	"12"	"121174943"	"121174943"	"subst"	""	"00006"	"ACADS_000011"	"g.121174943G>A"	"1/179"	""	"Substitution"	""	""
"0000016276"	"0"	"55"	"12"	"121175745"	"121175745"	"subst"	""	"00006"	"ACADS_000013"	"g.121175745C>T"	"3/179"	""	"Substitution"	""	""
"0000016278"	"0"	"77"	"12"	"121176083"	"121176083"	"subst"	""	"00006"	"ACADS_000014"	"g.121176083G>A"	"7/179"	""	"Substitution"	""	""
"0000016279"	"0"	"55"	"12"	"121176140"	"121176140"	"subst"	""	"00006"	"ACADS_000015"	"g.121176140G>A"	"3/179"	"{PMID:Chiju Yang et al. (2021):34704412}"	"Substitution"	""	""
"0000016280"	"0"	"55"	"12"	"121176195"	"121176195"	"subst"	""	"00006"	"ACADS_000017"	"g.121176195G>A"	"4/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016281"	"0"	"55"	"12"	"121176239"	"121176239"	"subst"	""	"00006"	"ACADS_000018"	"g.121176239T>A"	"1/179"	"{PMID:weizhou et al. (2021):34869113}"	"Substitution"	""	""
"0000016282"	"0"	"55"	"12"	"121176355"	"121176355"	"subst"	""	"00006"	"ACADS_000020"	"g.121176355G>A"	"1/179"	""	"Substitution"	""	""
"0000016283"	"0"	"55"	"12"	"121176360"	"121176360"	"subst"	""	"00006"	"ACADS_000021"	"g.121176360G>T"	"1/179"	""	"Substitution"	""	""
"0000016284"	"0"	"55"	"12"	"121176402"	"121176402"	"subst"	""	"00006"	"ACADS_000022"	"g.121176402G>T"	"1/179"	""	"Substitution"	""	""
"0000016285"	"0"	"77"	"12"	"121176662"	"121176662"	"subst"	""	"00006"	"ACADS_000023"	"g.121176662C>T"	"3/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016286"	"0"	"55"	"12"	"121176678"	"121176678"	"subst"	""	"00006"	"ACADS_000025"	"g.121176678G>A"	"1/179"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016287"	"0"	"55"	"12"	"121176680"	"121176680"	"subst"	""	"00006"	"ACADS_000026"	"g.121176680G>A"	"1/179"	"{PMID:weizhou et al. (2021):34869113}"	"Substitution"	""	""
"0000016288"	"0"	"99"	"12"	"121176944"	"121176944"	"subst"	""	"00006"	"ACADS_000027"	"g.121176944A>G"	"62/179"	"{PMID:Benjing Wang et al. (2019):31620161}"	"Substitution"	""	""
"0000016289"	"0"	"77"	"12"	"121176967"	"121176967"	"subst"	""	"00006"	"ACADS_000028"	"g.121176967G>A"	"4/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016290"	"0"	"77"	"12"	"121176968"	"121176968"	"subst"	""	"00006"	"ACADS_000029"	"g.121176968C>T"	"2/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016291"	"0"	"55"	"12"	"121176975"	"121176975"	"subst"	""	"00006"	"ACADS_000030"	"g.121176975G>C"	"1/179"	""	"Substitution"	""	""
"0000016292"	"0"	"99"	"12"	"121177142"	"121177142"	"subst"	""	"00006"	"ACADS_000031"	"g.121177142C>T"	"18/179"	"{PMID:Ting Wang et al. (2019):31737040}"	"Substitution"	""	""
"0000016293"	"0"	"55"	"12"	"121177160"	"121177160"	"subst"	""	"00006"	"ACADS_000033"	"g.121177160G>A"	"2/179"	"{PMID:weizhou et al. (2021):34869113}"	"Substitution"	""	""
"0000016294"	"0"	"55"	"12"	"121177165"	"121177165"	"subst"	""	"00006"	"ACADS_000034"	"g.121177165G>A"	"2/130"	""	"Substitution"	""	""
"0000016295"	"0"	"55"	"12"	"121177207"	"121177207"	"subst"	""	"00006"	"ACADS_000038"	"g.121177207C>T"	"2/130"	""	"Substitution"	""	""
"0000016543"	"0"	"55"	"12"	"121177198"	"121177198"	"subst"	""	"00006"	"ACADS_000037"	"g.121177198G>A"	"1/179"	""	"Substitution"	""	""
"0000016544"	"0"	"55"	"12"	"121177169"	"121177169"	"subst"	""	"00006"	"ACADS_000036"	"g.121177169G>A"	"1/179"	""	"Substitution"	""	""
"0000016545"	"0"	"55"	"12"	"121177168"	"121177168"	"subst"	""	"00006"	"ACADS_000035"	"g.121177168C>T"	"1/179"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016546"	"0"	"55"	"12"	"121177159"	"121177159"	"subst"	""	"00006"	"ACADS_000032"	"g.121177159C>T"	"1/179"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Substitution"	""	""
"0000016547"	"0"	"55"	"12"	"121176670"	"121176672"	"del"	""	"00006"	"ACADS_000024"	"g.121176670_121176672del"	"1/179"	"{PMID:Shuting Wang et al. (2020):32447334}"	"Deletion"	""	""
"0000016548"	"0"	"77"	"12"	"121176254"	"121176254"	"subst"	""	"00006"	"ACADS_000019"	"g.121176254G>A"	"2/179"	""	"Substitution"	""	""
"0000016549"	"0"	"77"	"12"	"121176140"	"121176141"	"del"	""	"00006"	"ACADS_000016"	"g.121176140_121176141del"	"1/179"	"{PMID:Chiju Yang et al. (2021):34704412}"	"Deletion"	""	""
"0000016550"	"0"	"55"	"12"	"121175243"	"121175243"	"subst"	""	"00006"	"ACADS_000012"	"g.121175243A>T"	"1/179"	""	"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 ACADS
## Count = 38
"{{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}}"
"0000016265"	"00000136"	"55"	"77"	"0"	"77"	"0"	"c.77A>G"	"2"	"His26Arg"	"r.0?"
"0000016266"	"00000136"	"55"	"79"	"0"	"79"	"0"	"c.79A>C"	"2"	"Thr27Pro"	"r.0?"
"0000016267"	"00000136"	"99"	"164"	"0"	"164"	"0"	"c.164C>T"	"2"	"Pro55Leu"	"r.0?"
"0000016268"	"00000136"	"55"	"233"	"0"	"233"	"0"	"c.233G>A"	"3"	"Gly78Glu"	"r.0?"
"0000016269"	"00000136"	"55"	"268"	"0"	"268"	"0"	"c.268G>A"	"3"	"Gly90Ser"	"r.0?"
"0000016270"	"00000136"	"55"	"293"	"0"	"293"	"0"	"c.293A>G"	"3"	"Tyr98Cys"	"r.0?"
"0000016271"	"00000136"	"55"	"301"	"0"	"301"	"0"	"c.301G>T"	"3"	"Ala101Ser"	"r.0?"
"0000016272"	"00000136"	"55"	"322"	"0"	"322"	"0"	"c.322G>A"	"3"	"Gly108Ser"	"r.0?"
"0000016273"	"00000136"	"77"	"337"	"0"	"337"	"0"	"c.337G>A"	"3"	"Gly113Arg"	"r.0?"
"0000016274"	"00000136"	"55"	"346"	"0"	"346"	"0"	"c.346A>G"	"3"	"Met116Val"	"r.0?"
"0000016275"	"00000136"	"55"	"360"	"5"	"360"	"5"	"c.360+5G>A"	"3i"	"-"	"r.0?"
"0000016276"	"00000136"	"55"	"578"	"0"	"578"	"0"	"c.578C>T"	"5"	"Ser193Leu"	"r.0?"
"0000016278"	"00000136"	"77"	"625"	"0"	"625"	"0"	"c.625G>A"	"6"	"Gly209Ser"	"r.0?"
"0000016279"	"00000136"	"55"	"682"	"0"	"682"	"0"	"c.682G>A"	"6"	"Glu228Lys"	"r.0?"
"0000016280"	"00000136"	"55"	"737"	"0"	"737"	"0"	"c.737G>A"	"6"	"Cys246Tyr"	"r.0?"
"0000016281"	"00000136"	"55"	"781"	"0"	"781"	"0"	"c.781T>A"	"6"	"Phe261Ile"	"r.0?"
"0000016282"	"00000136"	"55"	"815"	"0"	"815"	"0"	"c.815G>A"	"7"	"Arg272His"	"r.0?"
"0000016283"	"00000136"	"55"	"820"	"0"	"820"	"0"	"c.820G>T"	"7"	"Gly274Cys"	"r.0?"
"0000016284"	"00000136"	"55"	"862"	"0"	"862"	"0"	"c.862G>T"	"7"	"Asp288Tyr"	"r.0?"
"0000016285"	"00000136"	"77"	"973"	"0"	"973"	"0"	"c.973C>T"	"8"	"Arg325Trp"	"r.0?"
"0000016286"	"00000136"	"55"	"989"	"0"	"989"	"0"	"c.989G>A"	"8"	"Arg330His"	"r.0?"
"0000016287"	"00000136"	"55"	"991"	"0"	"991"	"0"	"c.991G>A"	"8"	"Ala331Thr"	"r.0?"
"0000016288"	"00000136"	"99"	"1031"	"0"	"1031"	"0"	"c.1031A>G"	"9"	"Glu344Gly"	"r.0?"
"0000016289"	"00000136"	"77"	"1054"	"0"	"1054"	"0"	"c.1054G>A"	"9"	"Ala352Thr"	"r.0?"
"0000016290"	"00000136"	"77"	"1055"	"0"	"1055"	"0"	"c.1055C>T"	"9"	"Ala352Val"	"r.0?"
"0000016291"	"00000136"	"55"	"1062"	"0"	"1062"	"0"	"c.1062G>C"	"9"	"Glu354Asp"	"r.0?"
"0000016292"	"00000136"	"99"	"1130"	"0"	"1130"	"0"	"c.1130C>T"	"9"	"Pro377Leu"	"r.0?"
"0000016293"	"00000136"	"55"	"1148"	"0"	"1148"	"0"	"c.1148G>A"	"10"	"Arg383His"	"r.0?"
"0000016294"	"00000136"	"55"	"1153"	"0"	"1153"	"0"	"c.1153G>A"	"10"	"Ala385Thr"	"r.0?"
"0000016295"	"00000136"	"55"	"1195"	"0"	"1195"	"0"	"c.1195C>T"	"10"	"Arg399Trp"	"r.0?"
"0000016543"	"00000136"	"55"	"1186"	"0"	"1186"	"0"	"c.1186G>A"	"10"	"p.(Glu396Lys)"	"r.(?)"
"0000016544"	"00000136"	"55"	"1157"	"0"	"1157"	"0"	"c.1157G>A"	"10"	"p.(Arg386His)"	"r.(?)"
"0000016545"	"00000136"	"55"	"1156"	"0"	"1156"	"0"	"c.1156C>T"	"10"	"p.(Arg386Cys)"	"r.(?)"
"0000016546"	"00000136"	"55"	"1147"	"0"	"1147"	"0"	"c.1147C>T"	"10"	"p.(Arg383Cys)"	"r.(?)"
"0000016547"	"00000136"	"55"	"981"	"0"	"983"	"0"	"c.981_983del"	"8"	"p.(Thr328del)"	"r.(?)"
"0000016548"	"00000136"	"77"	"795"	"1"	"795"	"1"	"c.795+1G>A"	"6i"	"p.0?"	"r.0?"
"0000016549"	"00000136"	"77"	"682"	"0"	"683"	"0"	"c.682_683del"	"6"	"p.(Glu228Argfs*16)"	"r.(?)"
"0000016550"	"00000136"	"55"	"445"	"0"	"445"	"0"	"c.445A>T"	"4"	"p.(Ile149Phe)"	"r.(?)"


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