### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GBA)
# 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}}"
"GBA"	"glucosylceramidase beta"	"1"	"q22"	"unknown"	"NG_009783.1"	"UD_144420482844"	""	""	""	"1"	"4177"	"2629"	"606463"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-09 15:29:11"	""	""	"00005"	"2021-08-24 15:41:23"


## 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}}"
"00000061"	"GBA"	"transcript variant 1"	"004"	"NM_000157.3"	""	"NP_000148.2"	""	""	""	"-166"	"2158"	"1611"	"155241278"	"155234448"	"00001"	"2020-12-09 15:29:46"	""	""


## 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}}"
"00039"	"PD"	"Parkinson’s disease"	""	""	""	""	""	"00001"	"2020-12-09 15:28:55"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GBA"	"00039"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00000240"	""	""	""	"1"	""	"00002"	"Nur Fadhlina Mohamad Pakarulrazy et al. (2020) (http://www.neurologyasia.org/articles/neuroasia-2020-25(1)-039.pdf)"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000240"	"00039"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00039
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000255"	"00000240"	"1"	"00002"	"00002"	"2020-12-09 15:37:46"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000255"	"GBA"


## 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/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001199"	"0"	"90"	"1"	"155239633"	"155239633"	"subst"	"0"	"00002"	"GBA_000001"	"g.155239633G>A"	"1/11"	"{dbSNP:rs758447515}, {ClinVar:197702}"	"S146L"	""	"rs758447515"
"0000001200"	"0"	"90"	"1"	"155238629"	"155238629"	"subst"	"0"	"00002"	"GBA_000002"	"g.155238629C>T"	"1/11"	"{dbSNP:rs79653797}, {OMIM:606463:0004}, {ClinVar:4291}"	"R159Q"	""	"rs79653797"
"0000001201"	"0"	"90"	"1"	"155238290"	"155238290"	"subst"	"0"	"00002"	"GBA_000003"	"g.155238290C>T"	"2/11"	"{dbSNP:rs398123531}, {ClinVar:93454}"	"R202Q"	""	"rs398123531"
"0000001202"	"0"	"90"	"1"	"155235252"	"155235252"	"subst"	"0"	"00002"	"GBA_000004"	"g.155235252A>G"	"1/11"	"{dbSNP:rs421016}, {ClinVar:4288}"	"L483P"	""	"rs421016"
"0000001203"	"0"	"90"	"1"	"155235252"	"155235252"	"subst"	"0"	"00002"	"GBA_000005"	"g.155235252A>C"	"1/11"	"{dbSNP:rs421016}, {ClinVar:93449}"	"L483R"	""	"rs421016"
"0000001204"	"0"	"90"	"1"	"155241257"	"155241257"	"subst"	"0"	"00002"	"GBA_000006"	"g.155241257C>T"	"2/11"	"{dbSNP:rs371157845}"	""	""	"rs371157845"
"0000001205"	"0"	"90"	"1"	"155239934"	"155239934"	"subst"	"0"	"00002"	"GBA_000007"	"g.155239934G>A"	"1/11"	"{dbSNP:rs1141814}, {OMIM:606463:0033}, {ClinVar:4321}"	""	""	"rs1141814"
"0000001206"	"0"	"90"	"1"	"155238562"	"155238562"	"subst"	"0"	"00002"	"GBA_000008"	"g.155238562G>A"	"1/11"	"{dbSNP:rs563689350}"	""	""	"rs563689350"
"0000001207"	"0"	"90"	"1"	"155240727"	"155240727"	"subst"	"0"	"00002"	"GBA_000009"	"g.155240727G>T"	"1/11"	"{dbSNP:rs778920100}"	""	""	"rs778920100"
"0000001208"	"0"	"90"	"1"	"155241315"	"155241315"	"subst"	"0"	"00002"	"GBA_000010"	"g.155241315T>C"	"1/11"	"{dbSNP:rs188978150}, {ClinVar:558789}"	""	""	"rs188978150"


## 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 GBA
## 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}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001199"	"00000061"	"90"	"437"	"0"	"437"	"0"	"c.437C>T"	"-"	"p.(Ser146Leu)"	"r.(?)"	""	""	"{ClinVar:197702}"
"0000001200"	"00000061"	"90"	"476"	"0"	"476"	"0"	"c.476G>A"	""	"p.(Arg159Gln)"	"r.(?)"	""	""	"{ClinVar:4291}"
"0000001201"	"00000061"	"90"	"605"	"0"	"605"	"0"	"c.605G>A"	""	"p.(Arg202Gln)"	"r.(?)"	""	""	"{ClinVar:93454}"
"0000001202"	"00000061"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	""	"p.(Leu483Pro)"	"r.(?)"	""	""	"{ClinVar:4288}"
"0000001203"	"00000061"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>G"	""	"p.(Leu483Arg)"	"r.(?)"	""	""	"{ClinVar:93449}"
"0000001204"	"00000061"	"90"	"-145"	"0"	"-145"	"0"	"c.-145G>A"	""	"p.(=)"	"r.(=)"	""	""	""
"0000001205"	"00000061"	"90"	"259"	"0"	"259"	"0"	"c.259C>T"	""	"p.(Arg87Trp)"	"r.(?)"	""	""	"{ClinVar:4321}"
"0000001206"	"00000061"	"90"	"543"	"0"	"543"	"0"	"c.543C>T"	""	"p.(=)"	"r.(=)"	""	""	""
"0000001207"	"00000061"	"90"	"28"	"-10"	"28"	"-10"	"c.28-10C>A"	""	"p.(=)"	"r.(=)"	""	""	""
"0000001208"	"00000061"	"90"	"-203"	"0"	"-203"	"0"	"c.-203A>G"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:558789}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000000255"	"0000001199"
"0000000255"	"0000001200"
"0000000255"	"0000001201"
"0000000255"	"0000001202"
"0000000255"	"0000001203"
"0000000255"	"0000001204"
"0000000255"	"0000001205"
"0000000255"	"0000001206"
"0000000255"	"0000001207"
"0000000255"	"0000001208"