### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GJB1)
# 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}}"
"GJB1"	"gap junction protein beta 1"	"X"	"q13.1"	"unknown"	"LRG_245"	"UD_144370877767"	""	""	""	"1"	"4283"	"2705"	"304040"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-02 16:51:32"	""	""	"00005"	"2021-09-13 12:04:47"


## 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}}"
"00000354"	"GJB1"	"transcript variant 2"	"003"	"NM_000166.5"	""	"NP_000157.1"	""	""	""	"-146"	"1508"	"852"	"71223206"	"71225215"	"00001"	"2021-03-02 16:51:32"	""	""


## 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}}"
"00080"	"CMT"	"Charcot-Marie-Tooth disease"	""	""	""	""	""	"00001"	"2021-03-02 16:51:24"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"GJB1"	"00080"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00000479"	""	""	""	"1"	""	"00002"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}"	""	""	"Malaysia"	"Chinese"	""	"M"
"00000480"	""	""	""	"1"	""	"00002"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}"	""	""	"Malaysia"	"Chinese"	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00000479"	"00080"
"00000480"	"00080"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00080
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000148"	"00080"	"00000479"	"00002"	"X-linked inheritance"	""
"0000000149"	"00080"	"00000480"	"00002"	"X-linked inheritance"	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000525"	"00000479"	"1"	"00002"	"00002"	"2021-03-03 15:05:34"	""	""	"PCR;SEQ"	"DNA"
"0000000526"	"00000480"	"1"	"00002"	"00002"	"2021-03-03 15:39:49"	""	""	"PCR;SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000000525"	"GJB1"
"0000000526"	"GJB1"


## 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 = 5
"{{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}}"
"0000002253"	"0"	"90"	"X"	"71223990"	"71223990"	"subst"	"0"	"00002"	"GJB1_000001"	"g.71223990G>A"	"2/18"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}, {dbSNP:rs104894821}, {ClinVar:10441}"	""	""	"rs104894821"
"0000002254"	"0"	"90"	"X"	"71222893"	"71222893"	"subst"	"0"	"00002"	"GJB1_000002"	"g.71222893C>T"	"1/18"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}"	""	""	"rs144371265"
"0000002255"	"0"	"90"	"X"	"71224228"	"71224228"	"subst"	"0"	"00002"	"GJB1_000003"	"g.71224228C>T"	"1/18"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}, {dbSNP:rs1602349540}, {ClinVar:637224}"	""	""	"rs1602349540"
"0000002256"	"0"	"90"	"X"	"71223927"	"71223927"	"subst"	"0"	"00002"	"GJB1_000004"	"g.71223927G>A"	"1/18"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}, {dbSNP:rs772377652}, {ClinVar:637223}"	""	""	"rs772377652"
"0000002257"	"0"	"90"	"X"	"71224198"	"71224198"	"subst"	"0"	"00002"	"GJB1_000005"	"g.71224198G>A"	"1/18"	"{PMID:Nortina Shahrizaila et al. (2014):23649551}{dbSNP:rs1241595912}"	""	""	"rs1241595912"


## 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 GJB1
## Count = 5
"{{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}}"
"0000002253"	"00000354"	"90"	"283"	"0"	"283"	"0"	"c.283G>A"	""	"p.(Val95Met)"	"r.(?)"	""	""
"0000002254"	"00000354"	"90"	"-459"	"0"	"-459"	"0"	"c.-459C>T"	""	"p.(=)"	"r.(=)"	""	""
"0000002255"	"00000354"	"90"	"521"	"0"	"521"	"0"	"c.521C>T"	""	"p.(Pro174Leu)"	"r.(?)"	""	""
"0000002256"	"00000354"	"90"	"220"	"0"	"220"	"0"	"c.220G>A"	""	"p.(Val74Met)"	"r.(?)"	""	""
"0000002257"	"00000354"	"90"	"491"	"0"	"491"	"0"	"c.491G>A"	""	"p.(Arg164Gln)"	"r.(?)"	""	"{ClinVar:543920}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000000525"	"0000002253"
"0000000525"	"0000002254"
"0000000525"	"0000002255"
"0000000525"	"0000002256"
"0000000526"	"0000002257"