### LOVD-version 3000-30b ### 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" "q21" "unknown" "NG_008988.1" "UD_132085282604" "" "https://www.LOVD.nl/ADMP1" "" "1" "2932" "1758" "600980" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DMP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-01 15:02:22" "00000" "2025-05-05 21:14:00" ## 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}}" "00025658" "DMP1" "transcript variant 1" "001" "NM_004407.3" "" "NP_004398.1" "" "" "" "-104" "2583" "1542" "88571454" "88585513" "00006" "2021-11-29 12:53:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01867" "ARHR1" "hypophosphatemic rickets, autosomal recessive (ARHR1)" "AR" "241520" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02241" "XLHR" "rickets, hypophosphatemic, X-linked dominant (XLHR)" "XLD" "307800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DMP1" "01867" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00303618" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Lebanon" "" "0" "" "" "" "Family_1" "00393394" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam8" "00393395" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam37" "00393397" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam18" "00393400" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam27" "00393403" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam25" "00393405" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam41" "00393415" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam5" "00393419" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam10" "00393420" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam35" "00393423" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam14" "00393424" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam15" "00393425" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam2" "00393426" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam33" "00393427" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam40" "00393428" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam42" "00393429" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam6" "00397334" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "Fam8PatIV1" "00401653" "" "" "" "1" "" "00006" "{PMID:Thiele 2020:33107440}" "" "M" "" "Germany" "" "0" "" "" "" "Pat2" "00401654" "" "" "" "1" "" "00006" "{PMID:Thiele 2020:33107440}" "" "F" "" "Germany" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00303618" "00198" "00393394" "02241" "00393395" "02241" "00393397" "02241" "00393400" "02241" "00393403" "02241" "00393405" "02241" "00393415" "02241" "00393419" "02241" "00393420" "02241" "00393423" "00198" "00393424" "00198" "00393425" "00198" "00393426" "00198" "00393427" "00198" "00393428" "00198" "00393429" "00198" "00397334" "06886" "00401653" "06886" "00401654" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01867, 02241, 06886 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000230682" "00198" "00303618" "00006" "Familial, autosomal recessive" "" "see paper; ..., sclerosing bone dysplasia" "" "" "" "" "" "" "" "" "" "sclerosing bone dysplasia" "" "0000290487" "06886" "00397334" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., genu varum, short stature, groth retardation" "" "" "" "" "" "" "" "" "ARHR1" "hypophosphatemic rickets" "" "0000311025" "06886" "00401654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARHR2" "hypophosphatemic rickets" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000053" "00000053" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000304746" "00303618" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000394642" "00393394" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394643" "00393395" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394645" "00393397" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394648" "00393400" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394651" "00393403" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394653" "00393405" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394663" "00393415" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394667" "00393419" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394668" "00393420" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394671" "00393423" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394672" "00393424" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394673" "00393425" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394674" "00393426" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394675" "00393427" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394676" "00393428" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394677" "00393429" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000398574" "00397334" "1" "00006" "00006" "2021-12-20 14:51:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402896" "00401653" "1" "00006" "00006" "2022-02-01 15:00:14" "" "" "SEQ" "DNA" "" "gene panel" "0000402897" "00401654" "1" "00006" "00006" "2022-02-01 15:04:43" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000000053" "AHI1" "0000000053" "ATP7B" "0000000053" "DMD" "0000000053" "DPYD" "0000000053" "ETFB" "0000000053" "GALC" "0000000053" "GLB1" "0000000053" "MTHFR" "0000000053" "MYO5A" "0000000053" "NHLRC1" "0000000053" "SERPINA1" "0000304746" "DMP1" "0000398574" "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 = 53 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000000117" "0" "50" "1" "11850927" "11850927" "subst" "0.055472" "00002" "MTHFR_000001" "g.11850927C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.11790870C>T" "" "VUS" "" "0000248910" "0" "10" "4" "88583135" "88583135" "subst" "0.286462" "02325" "DMP1_000001" "g.88583135A>T" "" "" "" "DMP1(NM_004407.4):c.205A>T (p.S69C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87661983A>T" "" "benign" "" "0000251899" "0" "30" "4" "88584318" "88584318" "subst" "0.00454029" "02326" "DMP1_000004" "g.88584318A>G" "" "" "" "DMP1(NM_001079911.2):c.1340A>G (p.(Lys447Arg)), DMP1(NM_004407.4):c.1388A>G (p.K463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87663166A>G" "" "likely benign" "" "0000267422" "0" "10" "4" "88584148" "88584148" "subst" "0.189787" "02325" "DMP1_000002" "g.88584148C>T" "" "" "" "DMP1(NM_004407.4):c.1218C>T (p.S406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87662996C>T" "" "benign" "" "0000267423" "0" "10" "4" "88584160" "88584160" "subst" "0.250226" "02325" "DMP1_000003" "g.88584160G>A" "" "" "" "DMP1(NM_004407.4):c.1230G>A (p.E410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87663008G>A" "" "benign" "" "0000340512" "0" "10" "4" "88584160" "88584160" "subst" "0.250226" "02327" "DMP1_000003" "g.88584160G>A" "" "" "" "DMP1(NM_004407.4):c.1230G>A (p.E410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87663008G>A" "" "benign" "" "0000345704" "0" "90" "4" "88583333" "88583333" "subst" "8.12236E-6" "02327" "DMP1_000005" "g.88583333G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87662181G>T" "" "pathogenic" "" "0000349142" "0" "10" "4" "88583135" "88583135" "subst" "0.286462" "02327" "DMP1_000001" "g.88583135A>T" "" "" "" "DMP1(NM_004407.4):c.205A>T (p.S69C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87661983A>T" "" "benign" "" "0000523482" "0" "30" "4" "88584318" "88584318" "subst" "0.00454029" "01804" "DMP1_000004" "g.88584318A>G" "" "" "" "DMP1(NM_001079911.2):c.1340A>G (p.(Lys447Arg)), DMP1(NM_004407.4):c.1388A>G (p.K463R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87663166A>G" "" "likely benign" "" "0000523483" "0" "30" "4" "88584326" "88584326" "subst" "0.000178679" "01804" "DMP1_000006" "g.88584326A>G" "" "" "" "DMP1(NM_001079911.2):c.1348A>G (p.(Ser450Gly)), DMP1(NM_004407.3):c.1396A>G (p.S466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87663174A>G" "" "likely benign" "" "0000668250" "3" "90" "4" "88577645" "88577645" "subst" "8.12401E-6" "00006" "DMP1_000007" "g.88577645A>G" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000689353" "0" "30" "4" "88583604" "88583604" "subst" "7.73672E-5" "01943" "DMP1_000008" "g.88583604G>A" "" "" "" "DMP1(NM_004407.3):c.674G>A (p.S225N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689354" "0" "30" "4" "88584326" "88584326" "subst" "0.000178679" "01943" "DMP1_000006" "g.88584326A>G" "" "" "" "DMP1(NM_001079911.2):c.1348A>G (p.(Ser450Gly)), DMP1(NM_004407.3):c.1396A>G (p.S466G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720034" "0" "30" "4" "88583774" "88583774" "subst" "0.00538042" "01943" "DMP1_000009" "g.88583774C>A" "" "" "" "DMP1(NM_001079911.2):c.796C>A (p.(Leu266Ile)), DMP1(NM_004407.3):c.844C>A (p.L282I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720035" "0" "30" "4" "88584037" "88584037" "subst" "0.000605243" "01943" "DMP1_000010" "g.88584037C>T" "" "" "" "DMP1(NM_004407.3):c.1107C>T (p.D369=), DMP1(NM_004407.4):c.1107C>T (p.D369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801748" "0" "30" "4" "88583745" "88583745" "subst" "0.00192901" "01804" "DMP1_000011" "g.88583745G>A" "" "" "" "DMP1(NM_001079911.2):c.767G>A (p.(Arg256His)), DMP1(NM_004407.4):c.815G>A (p.R272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801749" "0" "30" "4" "88583774" "88583774" "subst" "0.00538042" "01804" "DMP1_000009" "g.88583774C>A" "" "" "" "DMP1(NM_001079911.2):c.796C>A (p.(Leu266Ile)), DMP1(NM_004407.3):c.844C>A (p.L282I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825623" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825624" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825626" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825627" "0" "30" "4" "88583683" "88583683" "subst" "0" "00006" "DMP1_000013" "g.88583683T>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "" "0" "" "" "g.87662531T>A" "" "likely benign" "" "0000825628" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825629" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825630" "0" "30" "4" "88584185" "88584185" "subst" "0.000276717" "00006" "DMP1_000015" "g.88584185C>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "" "0" "" "" "g.87663033C>T" "" "likely benign" "" "0000825631" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "contains pathogenic PHEX variant" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825633" "0" "30" "4" "88584148" "88584148" "subst" "0.189787" "00006" "DMP1_000002" "g.88584148C>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615498" "0" "" "" "g.87662996C>T" "" "likely benign" "" "0000825634" "0" "30" "4" "88583809" "88583809" "subst" "0.00238031" "00006" "DMP1_000014" "g.88583809T>C" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "" "0" "" "" "g.87662657T>C" "" "likely benign" "" "0000825636" "0" "50" "4" "88583405" "88583405" "subst" "0.01531" "00006" "DMP1_000012" "g.88583405C>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "contains pathogenic PHEX variant" "Germline" "" "rs79402270" "0" "" "" "g.87662253C>" "" "VUS" "" "0000825637" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "contains pathogenic PHEX variant" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825641" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825642" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "contains pathogenic PHEX variant" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825643" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825644" "0" "30" "4" "88584148" "88584148" "subst" "0.189787" "00006" "DMP1_000002" "g.88584148C>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615498" "0" "" "" "g.87662996C>T" "" "likely benign" "" "0000825645" "0" "30" "4" "88584148" "88584148" "subst" "0.189787" "00006" "DMP1_000002" "g.88584148C>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615498" "0" "" "" "g.87662996C>T" "" "likely benign" "" "0000825646" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825647" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "contains pathogenic PHEX variant" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825648" "0" "30" "4" "88584160" "88584160" "subst" "0.250226" "00006" "DMP1_000003" "g.88584160G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615497" "0" "" "" "g.87663008G>A" "" "likely benign" "" "0000825649" "0" "50" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs10019009" "0" "" "" "g.87661983A>T" "" "VUS" "" "0000825650" "0" "30" "4" "88584148" "88584148" "subst" "0.189787" "00006" "DMP1_000002" "g.88584148C>T" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs2615498" "0" "" "" "g.87662996C>T" "" "likely benign" "" "0000837179" "3" "90" "4" "88577675" "88577675" "del" "0" "00006" "DMP1_000016" "g.88577675del" "" "{PMID:Thiele 2020:33107440}" "" "31delT" "" "Germline" "" "" "0" "" "" "g.87656523del" "" "pathogenic (recessive)" "" "0000837180" "1" "70" "4" "88583135" "88583135" "subst" "0.286462" "00006" "DMP1_000001" "g.88583135A>T" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.87661983A>T" "" "likely pathogenic (recessive)" "" "0000837181" "2" "70" "4" "88583405" "88583405" "subst" "0.01531" "00006" "DMP1_000012" "g.88583405C>A" "" "{PMID:Thiele 2020:33107440}" "" "" "" "Germline" "" "" "0" "" "" "g.87662253C>A" "" "likely pathogenic (recessive)" "" "0000850684" "0" "30" "4" "88584037" "88584037" "subst" "0.000605243" "02326" "DMP1_000010" "g.88584037C>T" "" "" "" "DMP1(NM_004407.3):c.1107C>T (p.D369=), DMP1(NM_004407.4):c.1107C>T (p.D369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859595" "0" "50" "4" "88583131" "88583131" "subst" "4.06078E-6" "01943" "DMP1_000017" "g.88583131T>G" "" "" "" "DMP1(NM_004407.3):c.201T>G (p.S67R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924162" "0" "30" "4" "88580606" "88580606" "subst" "0.00196227" "02326" "DMP1_000018" "g.88580606C>T" "" "" "" "DMP1(NM_004407.4):c.159C>T (p.G53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924163" "0" "30" "4" "88583405" "88583405" "subst" "0.01531" "01804" "DMP1_000012" "g.88583405C>A" "" "" "" "DMP1(NM_001079911.2):c.427C>A (p.(Gln143Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924164" "0" "30" "4" "88583809" "88583809" "subst" "0.00238031" "02326" "DMP1_000014" "g.88583809T>C" "" "" "" "DMP1(NM_004407.4):c.879T>C (p.S293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928953" "0" "30" "4" "88583242" "88583242" "subst" "0.000682355" "02326" "DMP1_000019" "g.88583242C>T" "" "" "" "DMP1(NM_004407.4):c.312C>T (p.D104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963270" "0" "30" "4" "88583745" "88583745" "subst" "0.00192901" "02326" "DMP1_000011" "g.88583745G>A" "" "" "" "DMP1(NM_001079911.2):c.767G>A (p.(Arg256His)), DMP1(NM_004407.4):c.815G>A (p.R272H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963271" "0" "90" "4" "88583939" "88583939" "dup" "0" "02325" "DMP1_000020" "g.88583939dup" "" "" "" "DMP1(NM_004407.3):c.1009dupA (p.(Ser337fs)), DMP1(NM_004407.4):c.1009dupA (p.S337Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976416" "0" "50" "4" "88583555" "88583555" "subst" "2.84861E-5" "01804" "DMP1_000021" "g.88583555G>A" "" "" "" "DMP1(NM_004407.4):c.625G>A (p.(Glu209Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994486" "0" "50" "4" "88583939" "88583939" "dup" "0" "01804" "DMP1_000020" "g.88583939dup" "" "" "" "DMP1(NM_004407.3):c.1009dupA (p.(Ser337fs)), DMP1(NM_004407.4):c.1009dupA (p.S337Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034725" "0" "50" "4" "88583243" "88583243" "subst" "2.43694E-5" "01804" "DMP1_000022" "g.88583243G>A" "" "" "" "DMP1(NM_004407.4):c.313G>A (p.(Asp105Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 = 53 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000000117" "00025658" "90" "730" "0" "730" "0" "c.730G>T" "r.(?)" "p.(Glu244Ter)" "" "0000248910" "00025658" "10" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "" "0000251899" "00025658" "30" "1388" "0" "1388" "0" "c.1388A>G" "r.(?)" "p.(Lys463Arg)" "" "0000267422" "00025658" "10" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "" "0000267423" "00025658" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "" "0000340512" "00025658" "10" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "" "0000345704" "00025658" "90" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Gly135Ter)" "" "0000349142" "00025658" "10" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "" "0000523482" "00025658" "30" "1388" "0" "1388" "0" "c.1388A>G" "r.(?)" "p.(Lys463Arg)" "" "0000523483" "00025658" "30" "1396" "0" "1396" "0" "c.1396A>G" "r.(?)" "p.(Ser466Gly)" "" "0000668250" "00025658" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000689353" "00025658" "30" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Ser225Asn)" "" "0000689354" "00025658" "30" "1396" "0" "1396" "0" "c.1396A>G" "r.(?)" "p.(Ser466Gly)" "" "0000720034" "00025658" "30" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Leu282Ile)" "" "0000720035" "00025658" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asp369=)" "" "0000801748" "00025658" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000801749" "00025658" "30" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Leu282Ile)" "" "0000825623" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825624" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825626" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825627" "00025658" "30" "753" "0" "753" "0" "c.753T>A" "r.(?)" "p.(Thr251=)" "6" "0000825628" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825629" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825630" "00025658" "30" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Pro419Ser)" "6" "0000825631" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825633" "00025658" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "6" "0000825634" "00025658" "30" "879" "0" "879" "0" "c.879T>C" "r.(?)" "p.(Ser293=)" "6" "0000825636" "00025658" "50" "475" "0" "475" "0" "c.475C>A" "r.(?)" "p.(Gln159Lys)" "6" "0000825637" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825641" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825642" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825643" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825644" "00025658" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "6" "0000825645" "00025658" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "6" "0000825646" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825647" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825648" "00025658" "30" "1230" "0" "1230" "0" "c.1230G>A" "r.(?)" "p.(Glu410=)" "6" "0000825649" "00025658" "50" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "6" "0000825650" "00025658" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Ser406=)" "6" "0000837179" "00025658" "90" "31" "0" "31" "0" "c.31del" "r.(?)" "p.(Trp11Glyfs*9)" "" "0000837180" "00025658" "70" "205" "0" "205" "0" "c.205A>T" "r.(?)" "p.(Ser69Cys)" "" "0000837181" "00025658" "70" "475" "0" "475" "0" "c.475C>A" "r.(?)" "p.(Gln159Lys)" "" "0000850684" "00025658" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Asp369=)" "" "0000859595" "00025658" "50" "201" "0" "201" "0" "c.201T>G" "r.(?)" "p.(Ser67Arg)" "" "0000924162" "00025658" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Gly53=)" "" "0000924163" "00025658" "30" "475" "0" "475" "0" "c.475C>A" "r.(?)" "p.(Gln159Lys)" "" "0000924164" "00025658" "30" "879" "0" "879" "0" "c.879T>C" "r.(?)" "p.(Ser293=)" "" "0000928953" "00025658" "30" "312" "0" "312" "0" "c.312C>T" "r.(?)" "p.(=)" "" "0000963270" "00025658" "30" "815" "0" "815" "0" "c.815G>A" "r.(?)" "p.(Arg272His)" "" "0000963271" "00025658" "90" "1009" "0" "1009" "0" "c.1009dup" "r.(?)" "p.(Ser337Lysfs*3)" "" "0000976416" "00025658" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Glu209Lys)" "" "0000994486" "00025658" "50" "1009" "0" "1009" "0" "c.1009dup" "r.(?)" "p.(Ser337Lysfs*3)" "" "0001034725" "00025658" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000000053" "0000000117" "0000304746" "0000668250" "0000394642" "0000825630" "0000394642" "0000825646" "0000394643" "0000825647" "0000394645" "0000825633" "0000394648" "0000825634" "0000394648" "0000825648" "0000394648" "0000825650" "0000394651" "0000825636" "0000394653" "0000825637" "0000394663" "0000825641" "0000394667" "0000825631" "0000394668" "0000825642" "0000394671" "0000825623" "0000394672" "0000825624" "0000394673" "0000825643" "0000394673" "0000825649" "0000394674" "0000825626" "0000394674" "0000825644" "0000394675" "0000825627" "0000394676" "0000825628" "0000394676" "0000825645" "0000394677" "0000825629" "0000398574" "0000000117" "0000402896" "0000837179" "0000402897" "0000837180" "0000402897" "0000837181"