### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP24A1) # 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}}" "CYP24A1" "cytochrome P450, family 24, subfamily A, polypeptide 1" "20" "q13.2-q13.3" "unknown" "NG_008334.1" "UD_132118423553" "" "http://www.LOVD.nl/CYP24A1" "" "1" "2602" "1591" "126065" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CYP24A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-27 23:10:55" "00000" "2025-11-01 13:22:20" ## 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}}" "00006046" "CYP24A1" "transcript variant 1" "002" "NM_000782.4" "" "NP_000773.2" "" "" "" "-398" "2868" "1545" "52790516" "52769988" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01377" "HCINF1" "hypercalcemia, infantile, type 1 (HCINF-1)" "AR" "143880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05172" "CAON" "nephrolithiasis, calcium oxalate (CAON)" "AR" "167030" "" "" "" "00006" "2016-05-27 23:28:10" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CYP24A1" "01377" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00065304" "" "" "" "1" "" "01606" "{PMID:Dganit Dinour 2013:23470222}, {DOI:Dganit Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "M" "yes" "Tunisia" ">48y" "0" "" "" "Jewish" "23470222 F1_pt.1" "00065305" "" "" "" "1" "" "01606" "{PMID:Dganit Dinour 2013:23470222}, {DOI:Dganit Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "M" "no" "Egypt" ">31y" "0" "" "" "Europe-E;Jewish;Egypt;Jewish" "23470222 F2_pt.1" "00065306" "" "" "" "1" "" "01606" "{PMID:Dinour 2013:23470222}, {DOI:Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "M" "no" "" ">13y" "0" "" "" "Europe-E;Jewish;Egypt;Jewish" "23470222 F2_pt.2" "00072148" "" "" "" "1" "" "01606" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "M" "" "" ">09y" "" "" "" "" "23293122 F1_I-2.2" "00072149" "" "" "" "1" "" "01606" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "M" "" "" ">38y" "" "" "" "" "23293122 F2_II-2.2" "00072154" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "F" "no" "" ">50y" "" "" "" "European" "25446019 patient 1" "00073757" "" "" "" "1" "" "01606" "{PMID:Sayers 2015:26251716}, {DOI:Sayers 2015:10.1093/ckj/sfv028}" "" "M" "" "England" ">45y" "" "" "" "" "26251716 pt.1" "00073760" "" "" "" "1" "" "01606" "{PMID:Jobst-Schwan 2015:26304832}, {DOI:Jobst-Schwan 2015:10.1159/000368520}" "" "M" "yes" "" ">24y" "" "" "" "Eastern Mediterranean" "26304832 II:3" "00073761" "" "" "" "1" "" "01606" "{PMID:Jobst-Schwan 2015:26304832}, {DOI:Jobst-Schwan 2015:10.1159/000368520}" "" "M" "yes" "" ">28y" "" "" "" "Eastern Mediterranean" "26304832 II:2" "00073762" "" "" "" "1" "" "01606" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "M" "no" "Israel" ">00y05m" "" "" "vitamin D supplements (400 IU/day), serum calcium level normalized when vitamin D supplementation was discontinued and after treatment with Calcitonin." "Jewish-Ashkenazi;Tunesia;Jewish" "25194629 pt.1" "00073763" "" "" "" "1" "" "01606" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "F" "" "Georgia;(Israel);Tunisia" ">00y09m" "" "" "vitamin D supplements (400 IU/day), Serum calcium level normalized when vitamin D supplementation was discontinued" "" "25194629 pt.2" "00073764" "" "" "" "1" "" "01606" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "F" "no" "(Israel);Morocco" ">05y" "" "" "vitamin D supplements (400 IU/day), Serum calcium level normalized when vitamin D supplementation was discontinued" "Jewish" "25194629 pt.3" "00073765" "" "" "" "1" "" "01606" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "F" "" "Morocco" ">35y" "" "" "vitamin D supplements (750 IU/day)" "" "25194629 pt.4" "00074394" "" "" "" "1" "" "01606" "{PMID:Meusburger 2013:24175086}, {DOI:Meusburger 2013:10.1093/ckj/sft008}" "" "M" "" "(Austria)" ">29y" "" "" "" "" "24175086 pt.1" "00074395" "" "" "" "1" "" "01606" "{PMID:Fencl 2013:23001465}, {DOI:Fencl 2013:10.1007/s00431-012-1818-1}" "" "M" "" "(Czech Republic)" ">00y14m" "" "" "" "" "23001465 pt.1" "00074401" "" "" "" "1" "" "01606" "{PMID:Dauber 2012:22112808}, {DOI:Dauber 2012:10.1210/jc.2011-1972}" "" "M" "yes" "(United States)" ">00y39m" "" "" "" "European" "22112808 pt.1" "00074414" "" "" "" "1" "" "01606" "{PMID:Marks 2016:26501157}, {DOI:Marks 2016:10.1515/jpem-2015-0133}" "" "M" "" "(United States)" ">00y07m" "" "" "" "Amish" "26501157 pt1" "00078708" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "no" "(France)" "" "0" "" "" "European" "25446019 patient 2" "00078709" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "no" "(France)" ">01y" "0" "" "" "African" "25446019 patient 3" "00078710" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "no" "(France)" ">07y" "0" "" "" "European" "25446019 patient 4" "00078711" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "yes" "(France)" ">04y" "0" "" "" "European" "25446019 patient 5" "00078712" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "no" "(France)" ">02y" "0" "" "" "European" "25446019 patient 6" "00078713" "" "" "" "1" "" "01606" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "no" "(France)" ">09y" "0" "" "" "European" "25446019 patient 7" "00078720" "" "" "" "1" "" "01606" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "F" "" "Italy" ">09y" "0" "" "" "" "27394135 F1:1.1" "00078721" "" "" "" "1" "" "01606" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "F" "" "Italy" ">06y" "0" "" "" "" "27394135 F1:1.2" "00078722" "" "" "" "1" "" "01606" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "F" "" "Italy" ">05y" "0" "" "" "" "27394135 F2.2" "00078723" "" "" "" "1" "" "01606" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "M" "" "Italy" ">23y" "0" "" "" "" "27394135 F3.3" "00078724" "" "" "" "1" "" "01606" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "M" "" "Italy" ">08y" "0" "" "" "" "27394135 F4.4" "00292950" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292951" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292952" "" "" "" "98" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292953" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292954" "" "" "" "98" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304863" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304864" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309880" "" "" "" "1" "" "03776" "" "" "F" "" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00065304" "05172" "00065305" "05172" "00065306" "05172" "00072148" "05172" "00072149" "05172" "00072154" "05172" "00073757" "00198" "00073760" "05172" "00073761" "00198" "00073762" "01377" "00073763" "01377" "00073764" "01377" "00073765" "00198" "00074394" "01377" "00074395" "01377" "00074401" "01377" "00074414" "01377" "00078708" "01377" "00078709" "01377" "00078710" "01377" "00078711" "01377" "00078712" "01377" "00078713" "01377" "00078720" "01377" "00078721" "01377" "00078722" "01377" "00078723" "01377" "00078724" "01377" "00292950" "00198" "00292951" "00198" "00292952" "00198" "00292953" "00198" "00292954" "00198" "00304863" "00198" "00304864" "00198" "00309880" "01377" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01377, 05172 ## Count = 29 "{{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}}" "0000051424" "05172" "00065306" "01606" "Familial, autosomal recessive" ">13y" "diagnosis nephrolithiasis, calcium oxalate; symptoms started after treatment for mild osteoporosis with calcium and vitamin D supplements; calcium oxalate nephrolithiasis (HP:0008672), mild hypercalcemia (HP:0003072), no elevated serum creatinine (-HP:0003259), hypoparathyroidism (HP:0000829), increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), hypercalciuria (HP:0002150), no abnormality of urinary uric acid concentration (-HP:0012610), proteinuria (HP:0000093)" "" "" "hematuria (HP:0000790), renal colic (HP:0011848)" "" "" "" "" "" "" "" "" "0000051854" "05172" "00072148" "01606" "Familial, autosomal recessive" "09y" "Hypercalcemia (HP:0003072), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), no hyperuricosuria (-HP:0003149), no hyperoxaluria (-HP:0003159), extensive medullary nephrocalcinosis (HP:0012408), Hypoparathyroidism (HP:0000829)" "03y" "" "urinary tract infection" "" "" "" "" "" "" "" "" "0000051855" "05172" "00072149" "01606" "Familial, autosomal recessive" "38y" "Hypercalcemia (HP:0003072), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), nephrocalcinosis (HP:0012408), no hyperuricosuria (-HP:0003149), no hyperoxaluria (-HP:0003159), Hypoparathyroidism (HP:0000829), Hyperphosphaturia (HP:0003109)" "25y" "" "nephrocalcinosis (HP:0012408)" "" "" "" "" "" "" "" "" "0000051861" "05172" "00072154" "01606" "Familial, autosomal recessive" "50y" "dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Chondrocalcinosis (HP:0000934), Hypoparathyroidism (HP:0000829)," "45y" "" "nephrocalcinosis (HP:0012408)" "" "" "" "" "" "" "" "" "0000053572" "00198" "00073757" "01606" "Familial, autosomal recessive" "45y" "Abdominal colic (HP:0011848), Nephrolithiasis (HP:0000787), Hypercalciuria (HP:0002150), Hypercalcemia (HP:0003072), Increased serum 25-dihydroxyvitamin D3 (HP:0003117), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "10y" "" "" "" "" "" "" "" "" "asymptomatic hypercalcaemia" "" "0000053577" "05172" "00073760" "01606" "Familial, autosomal recessive" "24y" "Hypercalcemia (HP:0003072), Renal insufficiency (HP:0000083), Hypoparathyroidism (HP:0000829), Hypophosphaturia (HP:0012365)," "<24y" "" "" "" "" "" "" "" "" "" "" "0000053578" "00198" "00073761" "01606" "Familial, autosomal recessive" "28y" "Hypoparathyroidism (HP:0000829), Hypocitraturia (HP:0012405)," "" "" "" "" "" "" "" "" "" "" "" "0000053579" "01377" "00073762" "01606" "Familial, autosomal recessive" "00y05m" "vomiting after meals (HP:0002013), Weight loss (HP:0001824), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Medullary nephrocalcinosis (HP:0012408), Hypoparathyroidism (HP:0000829)," "" "00y05m" "" "" "" "" "" "" "" "" "" "0000053580" "01377" "00073763" "01606" "Familial, autosomal recessive" "00y09m" "Fever (HP:0001945), Cough (HP:0012735), Weight loss (HP:0001824), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408)" "" "00y09m" "" "" "" "" "" "" "" "" "" "0000053581" "01377" "00073764" "01606" "Familial, autosomal recessive" "00y05m" "Failure to thrive (HP:0001508), Polyuria (HP:0000103), Polydipsia (HP:0001959), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408)" "" "00y05m" "" "" "" "" "" "" "" "" "" "0000053582" "00198" "00073765" "01606" "Familial, autosomal recessive" "35y" "Caesarian section (HP:0011410), Muscle weakness (HP:0001324), Confusion (HP:0001289), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypoparathyroidism (HP:0000829), Medullary nephrocalcinosis (HP:0012408), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "" "35y" "" "" "" "" "" "" "" "Maternal hypercalcemia" "" "0000054211" "01377" "00074394" "01606" "Familial, autosomal recessive" "00y03m" "Failure to thrive (HP:0001508), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrolithiasis (HP:0000787), Increased serum calcifediol (HP:0100511), Hypoparathyroidism (HP:0000829)" "00y03m" "" "Failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "0000054212" "01377" "00074394" "01606" "Familial, autosomal recessive" "29y" "Elevated serum creatinine (HP:0003259), mild hypertension (HP:0000822), Microalbuminuria (HP:0012594), medullary nephrocalcinosis (HP:0012408), mild nephrogenic diabetes insipidus (HP:0009806), isosthenuria," "00y03m" "00y03m" "Failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "0000054213" "01377" "00074395" "01606" "Familial, autosomal recessive" "00y04m" "Vomiting (HP:0002013), Weight loss (HP:0001824), Dehydration (HP:0001944), Muscular hypotonia (HP:0001252), Lethargy (HP:0001254), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Hypophosphatemia (HP:0002148), mild hypokalemia (HP:0002900), Hypoparathyroidism (HP:0000829), Increased serum calcifediol (HP:0100511), Nephrocalcinosis (HP:0000121)," "00y04m" "00y04m" "Vomiting (HP:0002013)" "" "" "" "" "" "" "" "" "0000054219" "01377" "00074401" "01606" "Familial, autosomal recessive" "00y10m" "Failure to thrive (HP:0001508), Polyuria (HP:0000103), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrocalcinosis (HP:0000121)," "00y10m" "00y10m" "Failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "0000054232" "01377" "00074414" "01606" "Familial, autosomal recessive" "00y07m" "Muscular hypotonia (HP:0001252), Constipation (HP:0002019), Failure to thrive (HP:0001508), Global developmental delay (HP:0001263), Poor suck (HP:0002033), Hypercalcemia (HP:0003072), Low alkaline phosphatase (HP:0003282), Hypoparathyroidism (HP:0000829), Hypercalciuria (HP:0002150)," "" "00y07m" "" "" "" "" "" "" "" "" "" "0000058471" "01377" "00078708" "01606" "Familial, autosomal recessive" "46y" "dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), Nephrolithiasis (HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058472" "01377" "00078709" "01606" "Familial, autosomal recessive" "01y" "no dehydration (-HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058473" "01377" "00078710" "01606" "Familial, autosomal recessive" "00y02m" "dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058474" "01377" "00078711" "01606" "Familial, autosomal recessive" "00y06m" "dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058475" "01377" "00078712" "01606" "Familial, autosomal recessive" "00y02m" "no dehydration (-HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058476" "01377" "00078713" "01606" "Familial, autosomal recessive" "00y06m" "dehydration (HP:0001944), medullary nephrocalcinosis (HP:0012408), Hypercalcemia (HP:0003072), Hypercalciuria (HP:0002150), No nephrolithiasis (-HP:0000787), no chondrocalcinosis (-HP:0000934), Hypoparathyroidism (HP:0000829)" "" "" "" "" "" "" "" "" "" "" "" "0000058477" "01377" "00078720" "01606" "Familial, autosomal recessive" "00y06m" "Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)," "00y06m" "" "" "" "" "" "" "" "" "" "" "0000058478" "01377" "00078721" "01606" "Familial, autosomal recessive" "01y" "Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "" "" "" "" "" "" "" "" "" "" "" "0000058479" "01377" "00078722" "01606" "Familial, autosomal recessive" "00y06m" "Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "" "" "" "" "" "" "" "" "" "" "" "0000058480" "01377" "00078723" "01606" "Familial, autosomal recessive" "09y" "Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "" "" "" "" "" "" "" "" "" "" "" "0000058481" "01377" "00078724" "01606" "Familial, autosomal recessive" "00y05m" "Nephrocalcinosis (HP:0000121), Hypercalcemia (HP:0003072), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152)" "" "" "" "" "" "" "" "" "" "" "" "0000061007" "05172" "00065304" "01606" "Familial, autosomal recessive" "48y" "Calcium oxalate nephrolithiasis (HP:0008672), Hypercalcemia (HP:0003072), Elevated serum creatinine (HP:0003259), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), decreased serum 24,25-dihydroxyvitamin D3 (HP:0100511), Hypercalciuria (HP:0002150), Hyperphosphaturia (HP:0003109), no abnormality of urinary uric acid concentration (-HP:0012610), Proteinuria (HP:0000093)" "09y" "" "renal colic (HP:0011848)" "" "" "" "" "" "" "" "" "0000061008" "05172" "00065305" "01606" "Familial, autosomal recessive" "31y" "Calcium oxalate nephrolithiasis (HP:0008672), mild Hypercalcemia (HP:0003072), no elevated serum creatinine (-HP:0003259), Hypoparathyroidism (HP:0000829), Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152), Hypercalciuria (HP:0002150), no hyperphosphaturia (-HP:0003109), Hyperuricosuria (HP:0003149), Proteinuria (HP:0000093)," "19y" "" "hematuria (HP:0000790)" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065457" "00065304" "1" "01606" "01606" "2016-05-27 14:00:02" "" "" "SEQ" "DNA" "" "" "0000065458" "00065305" "1" "01606" "01606" "2016-05-27 14:39:55" "" "" "SEQ" "DNA" "" "" "0000065459" "00065306" "1" "01606" "01606" "2016-05-27 15:00:55" "" "" "SEQ" "DNA" "" "" "0000072302" "00072148" "1" "01606" "01606" "2016-05-30 10:06:17" "" "" "SEQ" "DNA" "" "" "0000072303" "00072149" "1" "01606" "01606" "2016-05-30 10:54:41" "" "" "SEQ" "DNA" "" "" "0000072310" "00072154" "1" "01606" "01606" "2016-05-30 11:28:38" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000073918" "00073757" "1" "01606" "01606" "2016-06-23 14:37:12" "" "" "SEQ" "DNA" "" "" "0000073921" "00073760" "1" "01606" "01606" "2016-06-24 10:24:24" "" "" "SEQ" "DNA" "" "" "0000073922" "00073761" "1" "01606" "01606" "2016-06-24 10:39:41" "" "" "SEQ" "DNA" "" "" "0000073923" "00073762" "1" "01606" "01606" "2016-06-24 11:26:49" "" "" "SEQ" "DNA" "" "" "0000073924" "00073763" "1" "01606" "01606" "2016-06-24 11:53:39" "" "" "SEQ" "DNA" "" "" "0000073925" "00073764" "1" "01606" "01606" "2016-06-24 12:43:56" "" "" "SEQ" "DNA" "" "" "0000073926" "00073765" "1" "01606" "01606" "2016-06-24 13:00:25" "" "" "SEQ" "DNA" "" "" "0000074555" "00074394" "1" "01606" "01606" "2016-06-27 10:01:29" "" "" "SEQ" "DNA" "" "" "0000074556" "00074395" "1" "01606" "01606" "2016-06-27 10:44:53" "" "" "SEQ" "DNA" "" "" "0000074562" "00074401" "1" "01606" "01606" "2016-06-27 13:30:03" "" "" "SEQ" "DNA" "" "" "0000074575" "00074414" "1" "01606" "01606" "2016-06-28 14:56:38" "" "" "SEQ" "DNA" "" "" "0000078893" "00078708" "1" "01606" "01606" "2016-07-22 11:47:43" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078894" "00078709" "1" "01606" "01606" "2016-07-22 12:39:11" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078895" "00078710" "1" "01606" "01606" "2016-07-22 13:02:32" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078896" "00078711" "1" "01606" "01606" "2016-07-22 13:15:45" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078897" "00078712" "1" "01606" "01606" "2016-07-22 13:23:44" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078898" "00078713" "1" "01606" "01606" "2016-07-22 13:29:16" "00006" "2016-10-11 12:35:01" "SEQ" "DNA" "" "" "0000078908" "00078720" "1" "01606" "01606" "2016-07-22 15:26:36" "" "" "SEQ" "DNA" "" "" "0000078909" "00078721" "1" "01606" "01606" "2016-07-22 15:34:59" "" "" "SEQ" "DNA" "" "" "0000078910" "00078722" "1" "01606" "01606" "2016-07-22 15:45:46" "" "" "SEQ" "DNA" "" "" "0000078911" "00078723" "1" "01606" "01606" "2016-07-22 15:54:50" "" "" "SEQ" "DNA" "" "" "0000078912" "00078724" "1" "01606" "01606" "2016-07-22 15:59:23" "" "" "SEQ" "DNA" "" "" "0000294118" "00292950" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294119" "00292951" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294120" "00292952" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294121" "00292953" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294122" "00292954" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305992" "00304863" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305993" "00304864" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311024" "00309880" "1" "03776" "03776" "2020-09-04 17:12:40" "" "" "PCRlr;SEQ" "DNA" "" "" "0000311261" "00309880" "1" "03776" "03776" "2020-09-09 09:49:17" "" "" "PAGE;PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000065457" "CYP24A1" "0000065458" "CYP24A1" "0000065459" "CYP24A1" "0000072302" "CYP24A1" "0000072302" "CYP27B1" "0000072303" "CYP24A1" "0000072303" "CYP27B1" "0000072310" "CYP24A1" "0000073918" "CYP24A1" "0000073921" "CYP24A1" "0000073922" "CYP24A1" "0000073923" "CYP24A1" "0000073924" "CYP24A1" "0000073925" "CYP24A1" "0000073926" "CYP24A1" "0000074555" "CYP24A1" "0000074556" "CYP24A1" "0000074562" "CYP24A1" "0000074575" "CYP24A1" "0000078893" "CYP24A1" "0000078894" "CYP24A1" "0000078895" "CYP24A1" "0000078896" "CYP24A1" "0000078897" "CYP24A1" "0000078898" "CYP24A1" "0000078908" "CYP24A1" "0000078909" "CYP24A1" "0000078910" "CYP24A1" "0000078911" "CYP24A1" "0000078912" "CYP24A1" "0000311024" "CYP24A1" "0000311261" "CYP24A1" ## 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 = 111 "{{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}}" "0000097153" "3" "79" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Dinour 2013:23470222}, {DOI:Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "likely pathogenic" "" "0000097154" "21" "70" "20" "52781031" "52781031" "subst" "4.06134E-6" "01606" "CYP24A1_000001" "g.52781031C>T" "" "{PMID:Dinour 2013:23470222}, {DOI:Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "" "" "Germline" "" "" "0" "" "" "g.54164492C>T" "" "likely pathogenic" "" "0000097155" "11" "79" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Dganit Dinour 2013:23470222}, {DOI:Dganit Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "" "" "Germline" "" "" "0" "" "" "g.54158096A>G" "" "likely pathogenic" "" "0000097156" "21" "70" "20" "52781031" "52781031" "subst" "4.06134E-6" "01606" "CYP24A1_000001" "g.52781031C>T" "" "{PMID:Dinour 2013:23470222}, {DOI:Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "" "" "Germline" "" "" "0" "" "" "g.54164492C>T" "" "likely pathogenic" "" "0000097157" "11" "70" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Dinour 2013:23470222}, {DOI:Dinour 2013:10.1016/j.juro.2013.02.3188}" "" "" "" "Germline" "" "" "0" "" "" "g.54158096A>G" "" "likely pathogenic" "" "0000115841" "21" "79" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "likely pathogenic" "" "0000115842" "11" "70" "20" "52789454" "52789454" "subst" "0.000158512" "01606" "CYP24A1_000006" "g.52789454A>G" "" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "" "" "Germline" "" "" "0" "" "" "g.54172915A>G" "" "likely pathogenic" "" "0000115843" "11" "70" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "likely pathogenic" "" "0000115844" "21" "79" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Nesterova 2013:23293122}, {DOI:Nesterova 2013:10.2215/CJN.05360512}" "" "" "" "Germline" "" "" "0" "" "" "g.54158096A>G" "" "likely pathogenic" "" "0000115851" "1" "90" "20" "52773956" "52773957" "del" "0" "01606" "CYP24A1_000005" "g.52773956_52773957del" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "" "0" "" "" "g.54157417_54157418del" "" "pathogenic (recessive)" "" "0000115852" "2" "70" "20" "52790058" "52790058" "del" "0" "01606" "CYP24A1_000004" "g.52790058del" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Unknown" "" "" "0" "" "" "g.54173519del" "" "likely pathogenic" "" "0000117711" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Sayers 2015:26251716}, {DOI:Sayers 2015:10.1093/ckj/sfv028}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000117716" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Jobst-Schwan 2015:26304832}, {DOI:Jobst-Schwan 2015:10.1159/000368520}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000117717" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Jobst-Schwan 2015:26304832}, {DOI:Jobst-Schwan 2015:10.1159/000368520}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000117718" "21" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000117719" "11" "90" "20" "52789497" "52789497" "subst" "1.62624E-5" "01606" "CYP24A1_000014" "g.52789497A>C" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54172958A>C" "" "pathogenic (recessive)" "" "0000117720" "11" "90" "20" "52789497" "52789497" "subst" "1.62624E-5" "01606" "CYP24A1_000014" "g.52789497A>C" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54172958A>C" "" "pathogenic (recessive)" "" "0000117721" "21" "90" "20" "52779303" "52779303" "subst" "0" "01606" "CYP24A1_000009" "g.52779303C>A" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54162764C>A" "" "pathogenic (recessive)" "" "0000117722" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "c.427_429delGAA" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000117723" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Dinour 2015:25194629}, {DOI:Dinour 2015:10.1007/s00467-014-2889-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000118930" "3" "70" "20" "52786143" "52786143" "subst" "0" "01606" "CYP24A1_000011" "g.52786143A>G" "" "{PMID:Meusburger 2013:24175086}, {DOI:Meusburger 2013:10.1093/ckj/sft008}" "" "" "" "Germline" "" "" "0" "" "" "g.54169604A>G" "" "likely pathogenic (recessive)" "" "0000118931" "3" "10" "20" "52786219" "52786219" "subst" "0.490304" "01606" "CYP24A1_000012" "g.52786219G>A" "" "{PMID:Meusburger 2013:24175086}, {DOI:Meusburger 2013:10.1093/ckj/sft008}" "" "" "" "Germline" "" "rs2296241" "0" "" "" "g.54169680G>A" "" "benign" "" "0000118932" "3" "10" "20" "52771261" "52771261" "subst" "0" "01606" "CYP24A1_000018" "g.52771261G>A" "" "{PMID:Meusburger 2013:24175086}, {DOI:Meusburger 2013:10.1093/ckj/sft008}" "" "" "" "Germline" "" "rs2762934" "0" "" "" "g.54154722G>A" "" "benign" "" "0000118933" "3" "10" "20" "52770596" "52770596" "subst" "0" "01606" "CYP24A1_000017" "g.52770596G>C" "" "{PMID:Meusburger 2013:24175086}, {DOI:Meusburger 2013:10.1093/ckj/sft008}" "" "" "" "Germline" "" "rs6022987" "0" "" "" "g.54154057G>C" "" "benign" "" "0000118934" "3" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "" "{PMID:Fencl 2013:23001465}, {DOI:Fencl 2013:10.1007/s00431-012-1818-1}" "" "" "" "Germline" "" "" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000118940" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "MAF/MinorAlleleCount: -=0.0006/68 (ExAC)" "{PMID:Dauber 2012:22112808}, {DOI:Dauber 2012:10.1210/jc.2011-1972}" "" "" "" "Germline" "" "rs777676129" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000118953" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Marks 2016:26501157}, {DOI:Marks 2016:10.1515/jpem-2015-0133}" "" "" "" "Germline" "" "" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000126451" "0" "79" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "MAF/MinorAlleleCount: G=0.0007/86 (ExAC); G=0.0002/1 (1000 Genomes); G=0.0013/17 (GO-ESP)" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "yes" "rs6068812" "0" "" "" "g.54158096A>G" "" "likely pathogenic" "" "0000126452" "0" "70" "20" "52788190" "52788190" "subst" "0.00186127" "01606" "CYP24A1_000013" "g.52788190G>A" "MAF/MinorAlleleCount: T=0.0152/1850 (ExAC); T=0.0086/43 (1000 Genomes); T=0.0190/247 (GO-ESP)" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Unknown" "" "rs35873579" "0" "" "" "g.54171651G>A" "" "likely pathogenic" "" "0000126453" "2" "90" "20" "52788190" "52788190" "subst" "0.00186127" "01606" "CYP24A1_000013" "g.52788190G>A" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Unknown" "" "rs35873579" "0" "" "" "g.54171651G>A" "" "pathogenic (recessive)" "" "0000126454" "1" "90" "20" "52775532" "52775532" "subst" "0.00636361" "01606" "CYP24A1_000008" "g.52775532A>G" "MAF/MinorAlleleCount: G=0.0083/1010 (ExAC); G=0.0266/133 (1000 Genomes); G=0.0325/423 (GO-ESP)" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Unknown" "" "rs6022990" "0" "" "" "g.54158993A>G" "" "pathogenic (recessive)" "" "0000126455" "1" "90" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs6068812" "0" "" "" "g.54158096A>G" "" "pathogenic (recessive)" "" "0000126456" "2" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs114368325" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000126457" "3" "90" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs6068812" "0" "" "" "g.54158096A>G" "" "pathogenic (recessive)" "" "0000126458" "2" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs114368325" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000126459" "1" "90" "20" "52774674" "52774674" "subst" "7.31678E-5" "01606" "CYP24A1_000015" "g.52774674C>T" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs143934667" "0" "" "" "g.54158135C>T" "" "pathogenic (recessive)" "" "0000126460" "2" "70" "20" "52774635" "52774635" "subst" "0.000768736" "01606" "CYP24A1_000002" "g.52774635A>G" "" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "" "" "Germline" "" "rs6068812" "0" "" "" "g.54158096A>G" "" "pathogenic (recessive)" "" "0000126461" "1" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "MAF/MinorAlleleCount: -=0.0006/68 (ExAC)" "{PMID:Figueres 2015:25446019}, {DOI:Figueres 2015:10.1053/j.ajkd.2014.06.037}" "" "c.427_429del" "" "Unknown" "" "rs777676129" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000126471" "1" "90" "20" "52789454" "52789454" "subst" "0.000158512" "01606" "CYP24A1_000006" "g.52789454A>G" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "rs139763321" "0" "" "" "g.54172915A>G" "" "pathogenic (recessive)" "" "0000126472" "2" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "rs114368325" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000126473" "1" "90" "20" "52789454" "52789454" "subst" "0.000158512" "01606" "CYP24A1_000006" "g.52789454A>G" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "rs139763321" "0" "" "" "g.54172915A>G" "" "pathogenic (recessive)" "" "0000126474" "2" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01606" "CYP24A1_000007" "g.52774675G>A" "MAF/MinorAlleleCount: A=0.0007/80 (ExAC); A=0.0004/2 (1000 Genomes); A=0.0005/7 (GO-ESP)" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "rs114368325" "0" "" "" "g.54158136G>A" "" "pathogenic (recessive)" "" "0000126475" "1" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "MAF/MinorAlleleCount: -=0.0006/68 (ExAC)" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "c.427_429delGAA" "" "Germline" "" "rs777676129" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000126476" "2" "90" "20" "52773755" "52773755" "subst" "5.69898E-5" "01606" "CYP24A1_000016" "g.52773755G>A" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "" "0" "" "" "g.54157216G>A" "" "pathogenic (recessive)" "" "0000126477" "1" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "MAF/MinorAlleleCount: -=0.0006/68 (ExAC)" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "c.427_429delGAA" "" "Germline" "" "rs777676129" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000126478" "2" "90" "20" "52782353" "52782353" "subst" "0" "01606" "CYP24A1_000010" "g.52782353A>T" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "" "" "Germline" "" "" "0" "" "" "g.54165814A>T" "" "pathogenic (recessive)" "" "0000126479" "3" "90" "20" "52789470" "52789472" "del" "0" "01606" "CYP24A1_000003" "g.52789470_52789472del" "" "{PMID:Gigante 2016:27394135}, {DOI:Gigante 2016:10.1159/000446663}" "" "c.427_429delGAA" "" "Germline" "" "rs777676129" "0" "" "" "g.54172931_54172933del" "" "pathogenic (recessive)" "" "0000256345" "0" "50" "20" "52789601" "52789601" "subst" "9.12174E-5" "01943" "CYP24A1_000025" "g.52789601A>G" "" "" "" "CYP24A1(NM_000782.4):c.296T>C (p.M99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54173062A>G" "" "VUS" "" "0000267248" "0" "10" "20" "52775528" "52775528" "subst" "0.277935" "02325" "CYP24A1_000019" "g.52775528C>T" "" "" "" "CYP24A1(NM_000782.5):c.1125G>A (p.P375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54158989C>T" "" "benign" "" "0000267249" "0" "10" "20" "52786219" "52786219" "subst" "0.490304" "02325" "CYP24A1_000012" "g.52786219G>A" "" "" "" "CYP24A1(NM_000782.5):c.552C>T (p.A184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54169680G>A" "" "benign" "" "0000270669" "0" "10" "20" "52788190" "52788190" "subst" "0.0162435" "02326" "CYP24A1_000023" "g.52788190G>T" "" "" "" "CYP24A1(NM_000782.5):c.469C>A (p.R157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54171651G>T" "" "benign" "" "0000270670" "0" "10" "20" "52786219" "52786219" "subst" "0.490304" "02326" "CYP24A1_000012" "g.52786219G>A" "" "" "" "CYP24A1(NM_000782.5):c.552C>T (p.A184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54169680G>A" "" "benign" "" "0000270671" "0" "10" "20" "52781251" "52781251" "subst" "0" "02326" "CYP24A1_000021" "g.52781251G>C" "" "" "" "CYP24A1(NM_000782.5):c.733-149C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54164712G>C" "" "benign" "" "0000274701" "0" "30" "20" "52775555" "52775555" "subst" "0.000211181" "01943" "CYP24A1_000020" "g.52775555T>A" "" "" "" "CYP24A1(NM_000782.4):c.1098A>T (p.P366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54159016T>A" "" "likely benign" "" "0000274702" "0" "50" "20" "52789538" "52789538" "subst" "0.000179479" "01943" "CYP24A1_000024" "g.52789538C>T" "" "" "" "CYP24A1(NM_000782.4):c.359G>A (p.R120H), CYP24A1(NM_000782.5):c.359G>A (p.(Arg120His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54172999C>T" "" "VUS" "" "0000274703" "0" "30" "20" "52790082" "52790082" "subst" "0.000140605" "01943" "CYP24A1_000026" "g.52790082C>T" "" "" "" "CYP24A1(NM_000782.4):c.37G>A (p.A13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54173543C>T" "" "likely benign" "" "0000274704" "0" "30" "20" "52786195" "52786195" "subst" "0.000296466" "01943" "CYP24A1_000022" "g.52786195C>G" "" "" "" "CYP24A1(NM_000782.4):c.576G>C (p.E192D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54169656C>G" "" "likely benign" "" "0000340227" "0" "10" "20" "52788190" "52788190" "subst" "0.0162435" "02327" "CYP24A1_000023" "g.52788190G>T" "" "" "" "CYP24A1(NM_000782.5):c.469C>A (p.R157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54171651G>T" "" "benign" "" "0000340228" "0" "10" "20" "52789885" "52789885" "subst" "0.016287" "02327" "CYP24A1_000030" "g.52789885A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54173346A>C" "" "benign" "" "0000340229" "0" "10" "20" "52790005" "52790005" "subst" "0.016789" "02327" "CYP24A1_000031" "g.52790005C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54173466C>A" "" "benign" "" "0000340630" "0" "10" "20" "52786219" "52786219" "subst" "0.490304" "02327" "CYP24A1_000012" "g.52786219G>A" "" "" "" "CYP24A1(NM_000782.5):c.552C>T (p.A184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54169680G>A" "" "benign" "" "0000340911" "0" "10" "20" "52775528" "52775528" "subst" "0.277935" "02327" "CYP24A1_000019" "g.52775528C>T" "" "" "" "CYP24A1(NM_000782.5):c.1125G>A (p.P375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54158989C>T" "" "benign" "" "0000341003" "0" "10" "20" "52781091" "52781091" "subst" "0.123169" "02327" "CYP24A1_000029" "g.52781091C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54164552C>T" "" "benign" "" "0000342805" "0" "50" "20" "52774674" "52774674" "subst" "7.31678E-5" "02327" "CYP24A1_000015" "g.52774674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54158135C>T" "" "VUS" "" "0000347163" "0" "50" "20" "52774096" "52774096" "subst" "0" "02327" "CYP24A1_000027" "g.52774096A>C" "" "" "" "CYP24A1(NM_000782.5):c.1265T>G (p.(Leu422Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54157557A>C" "" "VUS" "" "0000351275" "0" "10" "20" "52779247" "52779247" "subst" "0.0184803" "02327" "CYP24A1_000028" "g.52779247C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.54162708C>T" "" "benign" "" "0000368174" "3" "99" "20" "52763705" "52774628" "del" "0" "02229" "CYP24A1_000032" "g.52763705_52774628del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.54147166_54158089del" "" "pathogenic" "" "0000569990" "0" "10" "20" "52773734" "52773734" "subst" "0.00125958" "02326" "CYP24A1_000033" "g.52773734G>A" "" "" "" "CYP24A1(NM_000782.5):c.1529C>T (p.A510V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54157195G>A" "" "benign" "" "0000569991" "0" "30" "20" "52773763" "52773763" "subst" "7.32607E-5" "02327" "CYP24A1_000034" "g.52773763G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54157224G>A" "" "likely benign" "" "0000569992" "0" "90" "20" "52774675" "52774675" "subst" "0.000682899" "02327" "CYP24A1_000007" "g.52774675G>A" "" "" "" "CYP24A1(NM_000782.5):c.1186C>T (p.(Arg396Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54158136G>A" "" "pathogenic" "" "0000618217" "0" "50" "20" "52781100" "52781100" "subst" "0.000479398" "02327" "CYP24A1_000038" "g.52781100C>T" "" "" "" "CYP24A1(NM_000782.5):c.735G>A (p.(Met245Ile), p.M245I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54164561C>T" "" "VUS" "" "0000650807" "1" "90" "20" "52779282" "52779282" "subst" "1.62423E-5" "03575" "CYP24A1_000039" "g.52779282C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387907324}" "Germline" "" "rs387907324" "0" "" "" "g.54162743C>T" "" "pathogenic" "" "0000650808" "1" "50" "20" "52789538" "52789538" "subst" "2.44744E-5" "03575" "CYP24A1_000040" "g.52789538C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs114476330}" "Germline" "" "rs114476330" "0" "" "" "g.54172999C>A" "" "VUS" "" "0000650809" "1" "30" "20" "52789885" "52789885" "subst" "0.016287" "03575" "CYP24A1_000030" "g.52789885A>C" "98/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "98 heterozygous; {DB:CLININrs61755338}" "Germline" "" "rs61755338" "0" "" "" "g.54173346A>C" "" "likely benign" "" "0000650810" "1" "50" "20" "52789902" "52789902" "subst" "0.000309422" "03575" "CYP24A1_000041" "g.52789902T>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201820243}" "Germline" "" "rs201820243" "0" "" "" "g.54173363T>A" "" "VUS" "" "0000650811" "1" "30" "20" "52790005" "52790005" "subst" "0.016789" "03575" "CYP24A1_000031" "g.52790005C>A" "98/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "98 heterozygous; {DB:CLININrs61749689}" "Germline" "" "rs61749689" "0" "" "" "g.54173466C>A" "" "likely benign" "" "0000658779" "0" "10" "20" "52771261" "52771261" "subst" "0" "02327" "CYP24A1_000018" "g.52771261G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.54154722G>A" "" "benign" "" "0000669680" "3" "30" "20" "52789885" "52789885" "subst" "0.016287" "03575" "CYP24A1_000030" "g.52789885A>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61755338}" "Germline" "" "rs61755338" "0" "" "" "g.54173346A>C" "" "likely benign" "" "0000669681" "3" "30" "20" "52790005" "52790005" "subst" "0.016789" "03575" "CYP24A1_000031" "g.52790005C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61749689}" "Germline" "" "rs61749689" "0" "" "" "g.54173466C>A" "" "likely benign" "" "0000686208" "0" "90" "20" "52776096" "52780636" "del" "0" "03776" "CYP24A1_000042" "g.52776096_52780636del" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.54159557_54164097del" "" "pathogenic" "ACMG" "0000686618" "0" "90" "20" "52763705" "52774628" "del" "0" "03776" "CYP24A1_000032" "g.52763705_52774628del" "" "{PMID:Molin 2019:30423445}" "" "" "" "Unknown" "" "" "" "" "" "g.54147166_54158089del" "" "pathogenic" "ACMG" "0000692998" "0" "90" "20" "52774635" "52774635" "subst" "0.000768736" "02325" "CYP24A1_000002" "g.52774635A>G" "" "" "" "CYP24A1(NM_000782.5):c.1226T>C (p.(Leu409Ser), p.L409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000692999" "0" "70" "20" "52788190" "52788190" "subst" "0.00186127" "02325" "CYP24A1_000013" "g.52788190G>A" "" "" "" "CYP24A1(NM_000782.4):c.469C>T (p.R157W), CYP24A1(NM_000782.5):c.469C>T (p.(Arg157Trp), p.R157W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693000" "0" "10" "20" "52790212" "52790212" "subst" "0" "02327" "CYP24A1_000043" "g.52790212T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000693001" "0" "10" "20" "52790272" "52790272" "subst" "0" "02327" "CYP24A1_000044" "g.52790272A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727738" "0" "10" "20" "52779338" "52779338" "subst" "0.00118976" "02326" "CYP24A1_000045" "g.52779338C>G" "" "" "" "CYP24A1(NM_000782.5):c.908G>C (p.C303S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000727739" "0" "50" "20" "52788190" "52788190" "subst" "0.00186127" "01943" "CYP24A1_000013" "g.52788190G>A" "" "" "" "CYP24A1(NM_000782.4):c.469C>T (p.R157W), CYP24A1(NM_000782.5):c.469C>T (p.(Arg157Trp), p.R157W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727740" "0" "50" "20" "52788190" "52788190" "subst" "0.00186127" "02327" "CYP24A1_000013" "g.52788190G>A" "" "" "" "CYP24A1(NM_000782.4):c.469C>T (p.R157W), CYP24A1(NM_000782.5):c.469C>T (p.(Arg157Trp), p.R157W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895367" "0" "90" "20" "52774635" "52774635" "subst" "0.000768736" "02326" "CYP24A1_000002" "g.52774635A>G" "" "" "" "CYP24A1(NM_000782.5):c.1226T>C (p.(Leu409Ser), p.L409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895368" "0" "30" "20" "52781100" "52781100" "subst" "0.000479398" "02326" "CYP24A1_000038" "g.52781100C>T" "" "" "" "CYP24A1(NM_000782.5):c.735G>A (p.(Met245Ile), p.M245I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895369" "0" "30" "20" "52786120" "52786120" "subst" "3.24934E-5" "02326" "CYP24A1_000046" "g.52786120C>T" "" "" "" "CYP24A1(NM_000782.5):c.640+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915404" "0" "70" "20" "52774046" "52774046" "subst" "4.46926E-5" "02327" "CYP24A1_000047" "g.52774046G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922750" "0" "90" "20" "52774675" "52774675" "subst" "0.000682899" "03779" "CYP24A1_000007" "g.52774675G>A" "" "" "" "" "" "Unknown" "" "rs114368325" "0" "" "" "" "" "pathogenic" "" "0000970187" "0" "10" "20" "52790194" "52790194" "subst" "0" "02327" "CYP24A1_000048" "g.52790194G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000983846" "0" "70" "20" "52774635" "52774635" "subst" "0.000768736" "01804" "CYP24A1_000002" "g.52774635A>G" "" "" "" "CYP24A1(NM_000782.5):c.1226T>C (p.(Leu409Ser), p.L409S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983847" "0" "90" "20" "52774675" "52774675" "subst" "0.000682899" "01804" "CYP24A1_000007" "g.52774675G>A" "" "" "" "CYP24A1(NM_000782.5):c.1186C>T (p.(Arg396Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983848" "0" "30" "20" "52782375" "52782375" "subst" "0" "01804" "CYP24A1_000049" "g.52782375G>A" "" "" "" "CYP24A1(NM_000782.5):c.641-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983849" "0" "50" "20" "52788190" "52788190" "subst" "0.00186127" "01804" "CYP24A1_000013" "g.52788190G>A" "" "" "" "CYP24A1(NM_000782.4):c.469C>T (p.R157W), CYP24A1(NM_000782.5):c.469C>T (p.(Arg157Trp), p.R157W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983850" "0" "90" "20" "52789470" "52789472" "del" "0" "01804" "CYP24A1_000003" "g.52789470_52789472del" "" "" "" "CYP24A1(NM_000782.5):c.428_430del (p.(Glu143del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983851" "0" "50" "20" "52789643" "52789643" "subst" "4.20844E-6" "01804" "CYP24A1_000050" "g.52789643A>T" "" "" "" "CYP24A1(NM_000782.5):c.259-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005476" "0" "30" "20" "52774612" "52774612" "subst" "4.48489E-5" "02326" "CYP24A1_000051" "g.52774612A>G" "" "" "" "CYP24A1(NM_000782.5):c.1236+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015870" "0" "50" "20" "52774698" "52774698" "subst" "4.88178E-5" "02325" "CYP24A1_000052" "g.52774698G>A" "" "" "" "CYP24A1(NM_000782.5):c.1163C>T (p.T388M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015871" "0" "30" "20" "52775622" "52775622" "subst" "0.000377696" "02327" "CYP24A1_000053" "g.52775622C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015872" "0" "50" "20" "52786155" "52786155" "subst" "0.000361436" "02325" "CYP24A1_000054" "g.52786155C>T" "" "" "" "CYP24A1(NM_000782.5):c.616G>A (p.E206K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015873" "0" "10" "20" "52790156" "52790156" "subst" "0.000522383" "02327" "CYP24A1_000055" "g.52790156A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043430" "0" "30" "20" "52774009" "52774009" "subst" "5.68676E-5" "01804" "CYP24A1_000056" "g.52774009G>A" "" "" "" "CYP24A1(NM_000782.5):c.1352C>T (p.(Ala451Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043431" "0" "50" "20" "52789538" "52789538" "subst" "0.000179479" "01804" "CYP24A1_000024" "g.52789538C>T" "" "" "" "CYP24A1(NM_000782.4):c.359G>A (p.R120H), CYP24A1(NM_000782.5):c.359G>A (p.(Arg120His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043432" "0" "50" "20" "52789647" "52789647" "subst" "0" "01804" "CYP24A1_000057" "g.52789647G>T" "" "" "" "CYP24A1(NM_000782.5):c.259-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043433" "0" "50" "20" "52789886" "52789886" "subst" "1.72417E-5" "01804" "CYP24A1_000058" "g.52789886C>A" "" "" "" "CYP24A1(NM_000782.5):c.233G>T (p.(Gly78Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056931" "0" "50" "20" "52774096" "52774096" "subst" "0" "01804" "CYP24A1_000027" "g.52774096A>C" "" "" "" "CYP24A1(NM_000782.5):c.1265T>G (p.(Leu422Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056932" "0" "50" "20" "52781100" "52781100" "subst" "0.000479398" "01804" "CYP24A1_000038" "g.52781100C>T" "" "" "" "CYP24A1(NM_000782.5):c.735G>A (p.(Met245Ile), p.M245I)" "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 CYP24A1 ## Count = 111 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000097153" "00006046" "79" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000097154" "00006046" "70" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Trp268*)" "6" "" "0000097155" "00006046" "79" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000097156" "00006046" "70" "804" "0" "804" "0" "c.804G>A" "r.(?)" "p.(Trp268*)" "6" "" "0000097157" "00006046" "70" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000115841" "00006046" "79" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000115842" "00006046" "70" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Leu148Pro)" "2" "" "0000115843" "00006046" "70" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000115844" "00006046" "79" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000115851" "00006046" "90" "1406" "0" "1407" "0" "c.1406_1407del" "r.(?)" "p.(Glu469Alafs*22)" "10" "" "0000115852" "00006046" "70" "62" "0" "62" "0" "c.62del" "r.(?)" "p.(Pro21Argfs*8)" "1" "" "0000117711" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000117716" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000117717" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000117718" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000117719" "00006046" "90" "400" "0" "400" "0" "c.400T>G" "r.(?)" "p.(Trp134Gly)" "2" "" "0000117720" "00006046" "90" "400" "0" "400" "0" "c.400T>G" "r.(?)" "p.(Trp134Gly)" "2" "" "0000117721" "00006046" "90" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Glu315*)" "7" "" "0000117722" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000117723" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000118930" "00006046" "70" "628" "0" "628" "0" "c.628T>C" "r.(?)" "p.(Trp210Arg)" "4" "" "0000118931" "00006046" "10" "552" "0" "552" "0" "c.552C>T" "r.(=)" "p.(=)" "4" "" "0000118932" "00006046" "10" "1595" "0" "1595" "0" "c.*50C>T" "r.(=)" "p.(=)" "12" "" "0000118933" "00006046" "10" "2260" "0" "2260" "0" "c.*715C>G" "r.(=)" "p.(=)" "12" "" "0000118934" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000118940" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000118953" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000126451" "00006046" "79" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000126452" "00006046" "70" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "3" "" "0000126453" "00006046" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "3" "" "0000126454" "00006046" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Met374Thr)" "8" "" "0000126455" "00006046" "90" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000126456" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000126457" "00006046" "90" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000126458" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000126459" "00006046" "90" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Arg396Gln)" "9" "" "0000126460" "00006046" "70" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "9" "" "0000126461" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000126471" "00006046" "90" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Leu148Pro)" "2" "" "0000126472" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000126473" "00006046" "90" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Leu148Pro)" "2" "" "0000126474" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "9" "" "0000126475" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000126476" "00006046" "90" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Pro503Leu)" "11" "" "0000126477" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000126478" "00006046" "90" "660" "0" "660" "0" "c.660T>A" "r.(?)" "p.(Tyr220*)" "5" "" "0000126479" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "2" "" "0000256345" "00006046" "50" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Met99Thr)" "" "" "0000267248" "00006046" "10" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Pro375=)" "" "" "0000267249" "00006046" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ala184=)" "" "" "0000270669" "00006046" "10" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Arg157=)" "" "" "0000270670" "00006046" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ala184=)" "" "" "0000270671" "00006046" "10" "733" "-149" "733" "-149" "c.733-149C>G" "r.(=)" "p.(=)" "" "" "0000274701" "00006046" "30" "1098" "0" "1098" "0" "c.1098A>T" "r.(?)" "p.(Pro366=)" "" "" "0000274702" "00006046" "50" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "" "0000274703" "00006046" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "" "0000274704" "00006046" "30" "576" "0" "576" "0" "c.576G>C" "r.(?)" "p.(Glu192Asp)" "" "" "0000340227" "00006046" "10" "469" "0" "469" "0" "c.469C>A" "r.(?)" "p.(Arg157=)" "" "" "0000340228" "00006046" "10" "234" "0" "234" "0" "c.234T>G" "r.(?)" "p.(Gly78=)" "" "" "0000340229" "00006046" "10" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Pro38=)" "" "" "0000340630" "00006046" "10" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Ala184=)" "" "" "0000340911" "00006046" "10" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Pro375=)" "" "" "0000341003" "00006046" "10" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Thr248=)" "" "" "0000342805" "00006046" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Arg396Gln)" "" "" "0000347163" "00006046" "50" "1265" "0" "1265" "0" "c.1265T>G" "r.(?)" "p.(Leu422Trp)" "" "" "0000351275" "00006046" "10" "990" "9" "990" "9" "c.990+9G>A" "r.(=)" "p.(=)" "" "" "0000368174" "00006046" "99" "1233" "0" "9151" "0" "c.1233_*7606del" "r.?" "p.?" "" "" "0000569990" "00006046" "10" "1529" "0" "1529" "0" "c.1529C>T" "r.(?)" "p.(Ala510Val)" "" "" "0000569991" "00006046" "30" "1500" "0" "1500" "0" "c.1500C>T" "r.(?)" "p.(Thr500=)" "" "" "0000569992" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "" "" "0000618217" "00006046" "50" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Met245Ile)" "" "" "0000650807" "00006046" "90" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Glu322Lys)" "" "" "0000650808" "00006046" "50" "359" "0" "359" "0" "c.359G>T" "r.(?)" "p.(Arg120Leu)" "" "" "0000650809" "00006046" "30" "234" "0" "234" "0" "c.234T>G" "r.(=)" "p.(=)" "" "" "0000650810" "00006046" "50" "217" "0" "217" "0" "c.217A>T" "r.(?)" "p.(Ile73Phe)" "" "" "0000650811" "00006046" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Pro38=)" "" "" "0000658779" "00006046" "10" "1595" "0" "1595" "0" "c.*50C>T" "r.(=)" "p.(=)" "" "" "0000669680" "00006046" "30" "234" "0" "234" "0" "c.234T>G" "r.(=)" "p.(=)" "" "" "0000669681" "00006046" "30" "114" "0" "114" "0" "c.114G>T" "r.(=)" "p.(=)" "" "" "0000686208" "00006046" "90" "844" "355" "991" "-434" "c.844+355_991-434del" "r.(?)" "p.(?)" "" "" "0000686618" "00006046" "90" "1233" "0" "9151" "0" "c.1233_*7606del" "r.?" "p.?" "9_12" "" "0000692998" "00006046" "90" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "" "" "0000692999" "00006046" "70" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "" "0000693000" "00006046" "10" "-94" "0" "-94" "0" "c.-94A>G" "r.(?)" "p.(=)" "" "" "0000693001" "00006046" "10" "-154" "0" "-154" "0" "c.-154T>G" "r.(?)" "p.(=)" "" "" "0000727738" "00006046" "10" "908" "0" "908" "0" "c.908G>C" "r.(?)" "p.(Cys303Ser)" "" "" "0000727739" "00006046" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "" "0000727740" "00006046" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "" "0000895367" "00006046" "90" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "" "" "0000895368" "00006046" "30" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Met245Ile)" "" "" "0000895369" "00006046" "30" "640" "11" "640" "11" "c.640+11G>A" "r.(=)" "p.(=)" "" "" "0000915404" "00006046" "70" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Cys)" "" "" "0000922750" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "" "" "0000970187" "00006046" "10" "-76" "0" "-76" "0" "c.-76C>T" "r.(?)" "p.(=)" "" "" "0000983846" "00006046" "70" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "" "" "0000983847" "00006046" "90" "1186" "0" "1186" "0" "c.1186C>T" "r.(?)" "p.(Arg396Trp)" "" "" "0000983848" "00006046" "30" "641" "-3" "641" "-3" "c.641-3C>T" "r.spl?" "p.?" "" "" "0000983849" "00006046" "50" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Trp)" "" "" "0000983850" "00006046" "90" "428" "0" "430" "0" "c.428_430del" "r.(?)" "p.(Glu143del)" "" "" "0000983851" "00006046" "50" "259" "-5" "259" "-5" "c.259-5T>A" "r.spl?" "p.?" "" "" "0001005476" "00006046" "30" "1236" "13" "1236" "13" "c.1236+13T>C" "r.(=)" "p.(=)" "" "" "0001015870" "00006046" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Thr388Met)" "" "" "0001015871" "00006046" "30" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "" "0001015872" "00006046" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Glu206Lys)" "" "" "0001015873" "00006046" "10" "-38" "0" "-38" "0" "c.-38T>A" "r.(?)" "p.(=)" "" "" "0001043430" "00006046" "30" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Ala451Val)" "" "" "0001043431" "00006046" "50" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "" "0001043432" "00006046" "50" "259" "-9" "259" "-9" "c.259-9C>A" "r.(=)" "p.(=)" "" "" "0001043433" "00006046" "50" "233" "0" "233" "0" "c.233G>T" "r.(?)" "p.(Gly78Val)" "" "" "0001056931" "00006046" "50" "1265" "0" "1265" "0" "c.1265T>G" "r.(?)" "p.(Leu422Trp)" "" "" "0001056932" "00006046" "50" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Met245Ile)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000065457" "0000097153" "0000065458" "0000097154" "0000065458" "0000097155" "0000065459" "0000097156" "0000065459" "0000097157" "0000072302" "0000115841" "0000072302" "0000115842" "0000072303" "0000115843" "0000072303" "0000115844" "0000072310" "0000115851" "0000072310" "0000115852" "0000073918" "0000117711" "0000073921" "0000117716" "0000073922" "0000117717" "0000073923" "0000117718" "0000073923" "0000117719" "0000073924" "0000117720" "0000073924" "0000117721" "0000073925" "0000117722" "0000073926" "0000117723" "0000074555" "0000118930" "0000074555" "0000118931" "0000074555" "0000118932" "0000074555" "0000118933" "0000074556" "0000118934" "0000074562" "0000118940" "0000074575" "0000118953" "0000078893" "0000126451" "0000078893" "0000126452" "0000078894" "0000126453" "0000078894" "0000126454" "0000078895" "0000126455" "0000078895" "0000126456" "0000078896" "0000126457" "0000078897" "0000126458" "0000078897" "0000126459" "0000078898" "0000126460" "0000078898" "0000126461" "0000078908" "0000126471" "0000078908" "0000126472" "0000078909" "0000126473" "0000078909" "0000126474" "0000078910" "0000126475" "0000078910" "0000126476" "0000078911" "0000126477" "0000078911" "0000126478" "0000078912" "0000126479" "0000294118" "0000650807" "0000294119" "0000650808" "0000294120" "0000650809" "0000294121" "0000650810" "0000294122" "0000650811" "0000305992" "0000669680" "0000305993" "0000669681" "0000311024" "0000686208" "0000311261" "0000686618"