### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DMP1)
# 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}}"
"DMP1"	"dentin matrix acidic phosphoprotein 1"	"4"	"q22.1"	"unknown"	"NC_000004.12"	"UD_144416864521"	""	""	""	"1"	"2932"	"1758"	"600980"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-12-24 00:00:00"	"00001"	"2022-12-18 16:34:29"	"00005"	"2021-08-29 12:19:34"


## 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}}"
"00000081"	"DMP1"	"transcript variant 1"	"001"	"NM_004407.3"	""	"NP_004398.1"	""	""	""	"-104"	"2583"	"1542"	"87650302"	"87664361"	"00001"	"2020-12-24 12:58:39"	""	""


## 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}}"
"00049"	"HR"	"Hypophosphataemic  rickets"	""	""	""	""	""	"00001"	"2020-12-24 12:50:25"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"DMP1"	"00049"


## 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}}"
"00000298"	""	""	""	"1"	""	"00002"	"Nurul Nadirah Razali et al. 2019 (//www.researchgate.net/publication/338207897)"	""	""	"Malaysia"	""	""	"F"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000298"	"00049"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00049
## 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}}"
"0000000313"	"00000298"	"1"	"00002"	"00002"	"2020-12-24 14:28:58"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000313"	"DMP1"


## 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 = 3
"{{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}}"
"0000001440"	"0"	"10"	"4"	"87661983"	"87661983"	"subst"	"0"	"00002"	"DMP1_000001"	"g.87661983A>T"	"3/5"	"{dbSNP:rs10019009}, {ClinVar:349970}"	"c.309A>T"	""	"rs10019009"
"0000001441"	"0"	"10"	"4"	"87662996"	"87662996"	"subst"	"0"	"00002"	"DMP1_000002"	"g.87662996C>T"	"1/5"	"{dbSNP:rs2615498}, {ClinVar:349982}"	"c.1322C>T"	""	"rs2615498"
"0000001442"	"0"	"90"	"4"	"87663008"	"87663008"	"subst"	"0"	"00002"	"DMP1_000003"	"g.87663008G>A"	"1/5"	"{dbSNP:rs2615497}, {ClinVar:349983}"	"c.1334G>A"	""	"rs2615497"


## 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 DMP1
## Count = 3
"{{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}}"
"0000001440"	"00000081"	"10"	"205"	"0"	"205"	"0"	"c.205A>T"	""	"p.(Ser69Cys)"	"r.(?)"	""	""	"{ClinVar:349970}"
"0000001441"	"00000081"	"10"	"1218"	"0"	"1218"	"0"	"c.1218C>T"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:349982}"
"0000001442"	"00000081"	"90"	"1230"	"0"	"1230"	"0"	"c.1230G>A"	""	"p.(=)"	"r.(=)"	""	""	"{ClinVar:349983}"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{variantid}}"
"0000000313"	"0000001440"
"0000000313"	"0000001441"
"0000000313"	"0000001442"