### LOVD-version 3000-300 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ABCA12)
# 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}}"
"ABCA12"	"ATP binding cassette subfamily A member 12"	"2"	"q35"	"unknown"	"NG_007074.1"	"UD_144407083405"	""	""	""	"1"	"14637"	"26154"	"607800"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-09 15:13:24"	""	""	"00005"	"2021-09-08 12:57:40"


## Transcripts ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00000380"	"ABCA12"	"transcript variant 1"	"002"	"NM_173076.2"	""	"NP_775099.2"	""	""	""	"-220"	"8880"	"7788"	"215138428"	"214931542"	"00001"	"2021-03-09 15:13:24"	""	""
"00000381"	"ABCA12"	"transcript variant 2"	"004"	"NM_015657.3"	""	"NP_056472.2"	""	""	""	"-159"	"7926"	"6834"	"215032086"	"214931542"	"00001"	"2021-03-09 15:13:24"	""	""
"00000382"	"ABCA12"	"transcript variant 3"	"003"	"NR_103740.1"	""	""	""	""	""	"1"	"9180"	"9180"	"215138428"	"214931542"	"00001"	"2021-03-09 15:13:24"	""	""
"00000383"	"ABCA12"	"transcript variant X1"	"001"	"XM_011510951.2"	""	"XP_011509253.1"	""	""	""	"-383"	"8889"	"7797"	"215138591"	"214931542"	"00001"	"2021-03-09 15:13:24"	""	""


## 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}}"
"00082"	"ARCI"	"autosomal recessive congenital ichthyosis"	"AR"	""	""	""	""	"00001"	"2021-03-09 15:13:00"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ABCA12"	"00082"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000517"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Chinese"	""	""
"00000518"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Chinese"	""	""
"00000519"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Malay"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000517"	"00082"
"00000518"	"00082"
"00000519"	"00082"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00082
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000172"	"00082"	"00000517"	"00004"	"diagnosed as Harlequin ichthyosis"	""
"0000000173"	"00082"	"00000518"	"00004"	"diagnosed as Harlequin ichthyosis"	""
"0000000174"	"00082"	"00000519"	"00004"	"diagnosed as Harlequin ichthyosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000565"	"00000517"	"1"	"00004"	"00004"	"2021-03-15 14:51:09"	""	""	"PCR"	"DNA"
"0000000566"	"00000518"	"1"	"00004"	"00004"	"2021-03-15 14:58:54"	""	""	"PCR"	"DNA"
"0000000567"	"00000519"	"1"	"00004"	"00004"	"2021-03-16 08:48:25"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000565"	"ABCA12"
"0000000566"	"ABCA12"
"0000000567"	"ABCA12"


## 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 = 4
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002405"	"0"	"90"	"2"	"214997750"	"214997750"	"subst"	"0"	"00004"	"ABCA12_000001"	"g.214997750A>T"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs1169776576"
"0000002406"	"0"	"90"	"2"	"215045850"	"215045850"	"subst"	"0"	"00004"	"ABCA12_000002"	"g.215045850G>A"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs11891778"
"0000002407"	"0"	"90"	"2"	"215000799"	"215000799"	"subst"	"0"	"00004"	"ABCA12_000003"	"g.215000799C>T"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs1064797003"
"0000002408"	"0"	"90"	"2"	"214991032"	"214991032"	"subst"	"0"	"00004"	"ABCA12_000004"	"g.214991032C>T"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	""


## 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 ABCA12
## Count = 6
"{{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}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000002405"	"00000380"	"50"	"3239"	"0"	"3239"	"0"	"c.3239T>A"	""	"p.(Phe1080Tyr)"	"r.(?)"	""	""
"0000002405"	"00000381"	"90"	"2285"	"0"	"2285"	"0"	"c.2285T>A"	""	"p.(Phe762Tyr)"	"r.(?)"	""	""
"0000002405"	"00000382"	"50"	"3539"	"0"	"3539"	"0"	"n.3539T>A"	""	"-"	"r.(?)"	""	""
"0000002406"	"00000380"	"90"	"859"	"0"	"859"	"0"	"c.859C>T"	""	"p.(Arg287*)"	"r.(?)"	""	"Pathogenic"
"0000002407"	"00000380"	"90"	"3085"	"0"	"3085"	"0"	"c.3085G>A"	""	"p.(Glu1029Lys)"	"r.(?)"	""	""
"0000002408"	"00000380"	"90"	"3295"	"-1"	"3295"	"-1"	"c.3295-1G>A"	""	"p.?"	"r.spl?"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000000565"	"0000002405"
"0000000566"	"0000002406"
"0000000566"	"0000002407"
"0000000567"	"0000002408"