### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HBA1)
# 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}}"
"HBA1"	"hemoglobin subunit alpha 1"	"16"	"p13.3"	"unknown"	"NG_000006.1"	"UD_144421999283"	""	""	""	"1"	"4823"	"3039"	"141800"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-03 09:25:08"	""	""	"00005"	"2022-04-25 09:32:58"


## 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}}"
"00000022"	"HBA1"	"hemoglobin subunit alpha 1"	"001"	"NM_000558.5"	""	"NP_000549.1"	""	""	""	"-37"	"540"	"429"	"176680"	"177522"	"00001"	"2020-11-03 10:15:46"	""	""


## 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}}"
"00017"	"α-thalassaemia"	"Alpha thalassaemia"	""	""	""	""	""	"00001"	"2020-11-03 09:23:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"HBA1"	"00017"


## 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}}"
"00000119"	""	""	""	"1"	""	"00002"	"{PMID:Rahimah Ahmad et al. (2013):24025420}"	"Carriers"	""	"Malaysia"	"Malay"	""	"?"
"00000120"	""	""	""	"1"	""	"00002"	"{PMID:Rahimah Ahmad et al. (2013):24025420}"	""	""	"Malaysia"	"Chinese"	""	"?"
"00001012"	""	""	""	"1"	""	"00001"	"{PMID: George E et al.(2012):20954559}"	""	""	""	"Malay"	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000119"	"00017"
"00000120"	"00017"
"00001012"	"00017"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00017
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age/Thal}}"	"{{Phenotype/Age_first_blood_transfusion}}"	"{{Phenotype/Blood_transfusion}}"	"{{Phenotype/Gender}}"	"{{Phenotype/Hb}}"	"{{Phenotype/HbA2}}"	"{{Phenotype/HbF}}"	"{{Phenotype/MCH}}"	"{{Phenotype/MCV}}"	"{{Phenotype/Size}}"	"{{Phenotype/Age_current_transfusion}}"	"{{Phenotype/Height/age}}"	"{{Phenotype/Height_velocity}}"	"{{Phenotype/Mid_parental_height}}"	"{{Phenotype/Weight/age}}"	"{{Phenotype/Current_serum_ferritin}}"	"{{Phenotype/Genotype}}"	"{{Phenotype/Iron_chelation}}"	"{{Phenotype/Splenectomy_done}}"	"{{Phenotype/Other_variants}}"
"0000000048"	"00017"	"00000119"	"00002"	"Carriers"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000049"	"00017"	"00000120"	"00002"	"carriers"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000000336"	"00017"	"00001012"	"00009"	"Alpha-thalassemia intermedia"	""	"52"	""	""	""	"5.6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000000134"	"00000119"	"1"	"00002"	"00002"	"2020-11-03 10:02:47"	""	""	"?"	"DNA"
"0000000135"	"00000120"	"1"	"00002"	"00002"	"2020-11-03 12:15:31"	""	""	"?"	"DNA"
"0000001196"	"00001012"	"1"	"00009"	"00009"	"2022-01-06 17:45:34"	""	""	"?"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000134"	"HBA1"
"0000000135"	"HBA1"
"0000001196"	"HBA1"


## 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 = 6
"{{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}}"
"0000000647"	"0"	"90"	"16"	"173598"	"173598"	"subst"	"0"	"00002"	"HBA1_000001"	"g.173598T>C"	"273/1925"	"{PMID:Rahimah Ahmad et al. (2013):24025420}, {dbSNP:rs41464951}, {OMIM:141850:0001}, {ClinVar:15624}"	""	""	"rs41464951"
"0000000648"	"0"	"50"	"16"	"34164"	"37967"	"del"	"0"	"00002"	"HBA1_000002"	"g.34164_37967del3804"	"840/1925"	"{PMID:Rahimah Ahmad et al. (2013):24025420}"	""	""	""
"0000000649"	"0"	"90"	"16"	"177012"	"177012"	"subst"	"0"	"00002"	"HBA1_000003"	"g.177012G>A"	"113/1925"	"{PMID:Rahimah Ahmad et al. (2013):24025420}, {dbSNP:rs28928878}, {OMIM:141800:0174}"	""	""	"rs28928878"
"0000000650"	"0"	"50"	"16"	"177359"	"177359"	"subst"	"0"	"00002"	"HBA1_000004"	"g.177359T>C"	"8/1925"	"{PMID:Rahimah Ahmad et al. (2013):24025420}, {dbSNP:rs41397847}, {OMIM:141850:0005}"	""	""	"rs41397847"
"0000000651"	"0"	"50"	"16"	"173384"	"177187"	"del"	"0"	"00002"	"HBA1_000002"	"g.173384_177187del"	"88/558"	"{PMID:Rahimah Ahmad et al. (2013):24025420}"	""	""	""
"0000003720"	"0"	"99"	"16"	"177012"	"177012"	"subst"	"0"	"00005"	"HBA1_000003"	"g.177012G>A"	"myhvp-1"	"{PMID:George E et al:20954559}{IthaNet:378}"	""	""	"rs28928878"


## 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 HBA1
## 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/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000000647"	"00000022"	"90"	"427"	"0"	"427"	"0"	"c.427T>C"	"3"	"p.(*143Glnext*30)"	"r.(?)"	""	""	"{ClinVar:15624}"
"0000000648"	"00000022"	"50"	"-3416"	"0"	"271"	"0"	"c.-3416_271del"	"-"	"p.?"	"r.?"	""	""	""
"0000000649"	"00000022"	"90"	"179"	"0"	"179"	"0"	"c.179G>A"	"2"	"p.(Gly60Asp)"	"r.(?)"	""	""	"{ClinVar:15849}"
"0000000650"	"00000022"	"50"	"377"	"0"	"377"	"0"	"c.377T>C"	"3"	"p.(Leu126Pro)"	"r.(?)"	""	""	"{ClinVar:15630}"
"0000000651"	"00000022"	"50"	"-3416"	"0"	"271"	"0"	"c.-3416_271del"	"-"	"p.?"	"r.?"	""	""	""
"0000003720"	"00000022"	"99"	"179"	"0"	"179"	"0"	"c.179G>A"	"2"	"p.(Gly60Asp)"	"r.(?)"	""	"missense"	"{ClinVar:15849}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000134"	"0000000647"
"0000000134"	"0000000648"
"0000000134"	"0000000649"
"0000000134"	"0000000650"
"0000000135"	"0000000651"
"0000001196"	"0000003720"