### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PTH1R)
# 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}}"
"PTH1R" "parathyroid hormone 1 receptor" "3" "p22-p21.1" "unknown" "NG_008864.1" "UD_128990355723" "" "http://www.LOVD.nl/PTH1R" "" "1" "9608" "5745" "168468" "1" "1" "1" "1" "alias: PTHR1
\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PTH1R_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "01199" "2017-01-26 11:22:30" "00000" "2024-10-16 12:11:02"
## 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}}"
"00017115" "PTH1R" "transcript variant 1" "001" "NM_000316.2" "" "NP_000307.1" "" "" "" "-203" "1925" "1782" "46919236" "46945289" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{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"
"00222" "PHP1B" "pseudohypoparathyroidism, type Ib (PHP-1B)" "AD" "603233" "" "" "" "00006" "2013-10-09 19:05:31" "00006" "2021-12-10 21:51:32"
"01279" "PFE" "tooth eruption, failure, primary (PFE)" "AD" "125350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01435" "MCDJ" "chondrodysplasia, metaphyseal, Murk Jansen type" "AD" "156400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01708" "BOCD" "chondrodysplasia, Blomstrand type (BOCD)" "AR" "215045" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02281" "Eiken" "Eiken syndrome (Eiken)" "AR" "600002" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02697" "-" "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" "AR" "607706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04258" "-" "osteoarthritis" "" "" "" "" "" "00006" "2015-05-08 12:09:48" "" ""
"05218" "Ollier" "enchondromatosis, multiple, Ollier type" "" "166000" "bones (skeleton)" "intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage; enchondromas are common benign cartilage tumors of bone" "" "01199" "2017-01-26 11:19:01" "00006" "2017-02-19 21:32:33"
"05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}" "{{diseaseid}}"
"PTH1R" "01279"
"PTH1R" "01435"
"PTH1R" "01708"
"PTH1R" "02281"
"PTH1R" "05218"
## Individuals ## Do not remove or alter this header ##
## Count = 67
"{{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}}"
"00095870" "" "" "" "8" "" "01744" "{PMID:Decker 2008:19061984}" "3 generation family, 8 affecteds (5F, 3M)" "F;M" "" "(Germany)" "" "0" "" "" "" ""
"00095879" "" "" "" "2" "" "01744" "{PMID:Decker 2008:19061984}" "2 generation family, 2 affecteds (mother and son)" "M" "" "(Germany)" "" "0" "" "" "" ""
"00095880" "" "" "" "3" "" "01744" "{PMID:Decker 2008:19061984}" "2 generation family, 3 affecteds" "F;M" "" "(Germany)" "" "0" "" "" "" ""
"00095881" "" "" "" "2" "" "01744" "{PMID:Decker 2008:19061984}" "2 generation family, 2 affecteds" "M" "" "(Germany)" "" "0" "" "" "" ""
"00095898" "" "" "" "1" "" "01744" "{PMID:Hoogendam 2007:17164305}" "" "F" "yes" "(Sweden)" "00y00m" "0" "" "" "" ""
"00095899" "" "" "" "1" "" "01744" "{PMID:Hoogendam 2007:17164305}" "" "M" "?" "Turkey" "00y00m" "0" "" "" "" ""
"00095900" "" "" "" "3" "" "01744" "{PMID:Hoogendam 2007:17164305}" "3 affected siblings born to parents who where first-degree cousins" "?" "yes" "" "00y00m" "0" "" "" "Asian" ""
"00095901" "" "" "" "1" "" "01744" "{PMID:Hoogendam 2007:17164305}" "" "?" "no" "" "00y00m" "0" "" "" "Asian" ""
"00095902" "" "" "" "6" "" "01744" "{PMID:Yamaguchi 2011:21404329}" "2-generation family, 6 affecteds" "F" "" "(Japan)" "" "0" "" "" "" ""
"00095903" "" "" "" "5" "" "01744" "{PMID:Yamaguchi 2011:21404329}" "3-generation family, 5 affecteds" "M" "?" "Japan" "" "0" "" "" "" ""
"00095904" "" "" "" "1" "" "01744" "{PMID:Yamaguchi 2011:21404329}" "" "?" "?" "(Japan)" "" "0" "" "" "" ""
"00095905" "" "" "" "1" "" "01744" "{PMID:Yamaguchi 2011:21404329}" "" "?" "?" "(Japan)" "" "0" "" "" "" ""
"00095906" "" "" "" "1" "" "01744" "{PMID:Young 2007:8445622}" "" "F" "yes" "" "00y00m" "0" "" "" "Asian" ""
"00095907" "" "" "" "2" "" "01744" "{PMID:Loshkajia 1997:9268097}" "" "F" "no" "(France)" "00y00m" "0" "" "" "" ""
"00095916" "" "" "" "3" "" "01744" "{PMID:Guerreiro 2016: 27415614}" "1-generation family, 3 siblings affected: all\r\naffected siblings being homozygous for the mutation and unaffected individuals being either heterozygous carriers or harbouring two reference alleles" "F" "yes" "Portugal" "68y" "0" "" "calcium carbonate 4 g/day; calcitriol 0.25 μg/day; carbamazepine 800mg/day" "white" ""
"00095917" "" "" "00095916" "1" "" "01744" "{PMID:Guerreiro 2016: 27415614}" "asymptomatic" "M" "?" "Portugal" "92y" "0" "" "" "white" ""
"00095918" "" "" "00095916" "1" "" "01744" "{PMID:Guerreiro 2016: 27415614}" "" "F" "yes" "Portugal" "" "0" "" "calcium carbonate, calcitriol" "white" ""
"00095919" "" "" "00095916" "1" "" "01744" "{PMID:Guerreiro 2016: 27415614}" "" "M" "yes" "Portugal" "" "0" "" "calcium carbonate, calcitriol" "white" ""
"00095932" "" "" "" "1" "" "01744" "{PMID:Couvineau 2008:18559376}" "" "?" "" "(France)" "" "0" "" "" "" ""
"00095933" "" "" "" "1" "" "01744" "{PMID:Couvineau 2008:18559376}" "" "?" "" "(France)" "" "0" "" "" "" ""
"00095934" "" "" "" "1" "" "01744" "{PMID:Couvineau 2008:18559376}" "" "?" "" "(France)" "" "0" "" "" "" ""
"00095935" "" "" "" "2" "" "01744" "{PMID:Hopyan 2002:11850620}" "2-generation family, 2 affecteds (son and father: with a mild skeletal dysplasia but no evidence of enchondromas)" "M" "" "(Canada)" "" "0" "" "" "" ""
"00095936" "" "" "" "1" "" "01744" "{PMID:Hopyan 2002:11850620}" "" "M" "" "(Canada)" "" "0" "" "" "" ""
"00095937" "" "" "" "1" "" "01744" "{PMID:Schipani 1995:7701349}" "" "F" "" "(United States)" "" "0" "" "" "" ""
"00095938" "" "" "" "1" "" "01744" "{PMID:Silverthorn 1987:3562109}" "" "M" "" "(Canada)" "" "0" "" "" "" ""
"00095939" "" "" "" "2" "" "01744" "{PMID:Charrow and Poznanski 1984:6331768}" "2-generation family, 2 affecteds (mother and daughter)" "F" "" "(United States)" "" "0" "" "" "" ""
"00095940" "" "" "00095939" "1" "" "01744" "{PMID:Charrow and Poznanski 1984:6331768}" "2-generation family, 2 affecteds (mother and daughter)" "F" "" "(United States)" "" "0" "" "" "" ""
"00095941" "" "" "" "1" "" "01744" "{PMID:Gram 1959:13664729}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00095969" "" "" "" "1" "" "01744" "{PMID:Kessel 1992:1437381}" "" "?" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00095974" "" "" "" "1" "" "01744" "{PMID:Schipani 1999:10487664}" "" "F" "" "" "" "0" "" "intranasal salmon calcitonin, alendronate (10 mg, twice per week)" "Asian" ""
"00095975" "" "" "" "1" "" "01744" "{PMID:Schipani 1999:10487664}" "" "F" "no" "" "" "0" "" "" "Arabic (Northen Africa)" ""
"00095977" "" "" "" "1" "" "01744" "{PMID:Schipani 1999:10487664}" "" "M" "no" "(United States)" "" "0" "" "" "white" ""
"00100209" "" "" "" "3" "" "01744" "{PMID:Bastepe 2004:15240651}" "2-generation family, 3 affecteds (2 sons and father)" "M" "no" "Morocco" "" "0" "" "" "Moroccan (father), Kurdish (mother)" ""
"00100210" "" "" "00100209" "1" "" "01744" "{PMID:Bastepe 2004:15240651}" "" "M" "no" "Morocco" "" "0" "" "" "Moroccan (father), Kurdish (mother)" ""
"00100211" "" "" "00100209" "1" "" "01744" "{PMID:Bastepe 2004:15240651}" "" "M" "?" "Morocco" "" "0" "" "" "Morocco;Jewish" ""
"00100340" "" "" "00095935" "1" "" "01744" "{PMID:Hopyan 2002:11850620}" "a mild skeletal dysplasia but no evidence of enchondromas" "M" "" "(Canada)" "" "0" "" "" "" ""
"00100344" "" "" "" "4" "" "01744" "{PMID:Duchatelet 2005:15525660}" "2-generation family, 4 affecteds" "M" "yes" "(France)" "" "0" "" "" "white" ""
"00100345" "" "" "00100344" "1" "" "01744" "{PMID:Duchatelet 2005:15525660}" "" "F" "yes" "(France)" "" "0" "" "" "white" ""
"00100346" "" "" "00100344" "1" "" "01744" "{PMID:Duchatelet 2005:15525660}" "" "M" "yes" "(France)" "" "0" "" "" "white" ""
"00100347" "" "" "00100344" "1" "" "01744" "{PMID:Duchatelet 2005:15525660}" "" "F" "yes" "(France)" "" "0" "" "" "white" ""
"00100349" "" "" "" "4" "" "01744" "{PMID:Frazier-Bowers 2010:20152661}" "2-generation family, 4 affecteds (mother and 3 siblings)" "M" "" "(United States)" "" "0" "" "" "" ""
"00100350" "" "" "00100349" "1" "" "01744" "{PMID:Frazier-Bowers 2010:20152661}" "" "F" "" "(United States)" "" "0" "" "" "" ""
"00100351" "" "" "00100349" "1" "" "01744" "{PMID:Frazier-Bowers 2010:20152661}" "" "M" "" "(United States)" "" "0" "" "" "" ""
"00100352" "" "" "00100349" "1" "" "01744" "{PMID:Frazier-Bowers 2010:20152661}" "" "F" "" "(United States)" "" "0" "" "" "" ""
"00100354" "" "" "" "3" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "3-generation family, at least 9 affecteds (only 3 individual´s sample available for the test. mother, 2 half-siblings)" "F" "" "(United States)" "" "0" "" "" "" ""
"00100355" "" "" "00100354" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "M" "" "(United States)" "" "0" "" "" "" ""
"00100356" "" "" "00100354" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "F" "" "(United States)" "" "0" "" "" "" ""
"00100357" "" "" "" "3" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "2-generation family, at least 3 carriers" "F" "" "(United States)" "" "0" "" "" "" ""
"00100358" "" "" "00100357" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "Unaffected carrier" "F" "" "(United States)" "" "0" "" "" "" ""
"00100359" "" "" "00100357" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "Unaffected carrier" "F" "" "(United States)" "" "0" "" "" "" ""
"00100363" "" "" "" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "isolated case" "M" "" "(United States)" "" "0" "" "" "" ""
"00100365" "" "" "" "2" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100366" "" "" "00100365" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100367" "" "" "" "2" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100368" "" "" "00100367" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "Healthy" "?" "" "(United States)" "" "0" "" "" "" ""
"00100369" "" "" "" "3" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100370" "" "" "00100369" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100371" "" "" "00100369" "1" "" "01744" "{PMID:Frazier-Bowers 2014:24300310}" "" "?" "" "(United States)" "" "0" "" "" "" ""
"00100373" "" "" "" "1" "" "01744" "{PMID:den Hollander 1997:9415697}" "19-week-old fetus" "?" "yes" "(Netherlands)" "00y00m" "0" "" "" "white" ""
"00293408" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293409" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293410" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304951" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304952" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00331549" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "16DG0530"
"00335381" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" ""
"00449683" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 69
"{{individualid}}" "{{diseaseid}}"
"00095870" "01279"
"00095879" "01279"
"00095880" "01279"
"00095881" "01279"
"00095898" "01708"
"00095899" "01708"
"00095900" "01708"
"00095901" "01708"
"00095902" "01279"
"00095903" "01279"
"00095904" "01279"
"00095905" "01279"
"00095906" "01708"
"00095907" "01708"
"00095916" "00222"
"00095917" "00222"
"00095918" "00222"
"00095919" "00222"
"00095932" "05218"
"00095933" "05218"
"00095934" "05218"
"00095935" "05218"
"00095936" "05218"
"00095937" "01435"
"00095938" "01435"
"00095939" "01435"
"00095940" "01435"
"00095941" "01435"
"00095969" "01435"
"00095974" "01435"
"00095975" "01435"
"00095977" "01435"
"00100209" "01435"
"00100210" "01435"
"00100211" "01435"
"00100340" "05218"
"00100344" "02281"
"00100345" "02281"
"00100346" "02281"
"00100347" "02281"
"00100349" "01279"
"00100350" "01279"
"00100351" "01279"
"00100352" "01279"
"00100354" "01279"
"00100354" "04258"
"00100355" "01279"
"00100356" "01279"
"00100357" "01279"
"00100358" "04258"
"00100359" "04258"
"00100363" "01279"
"00100363" "02697"
"00100365" "01279"
"00100366" "01279"
"00100367" "01279"
"00100368" "01279"
"00100369" "01279"
"00100370" "01279"
"00100371" "01279"
"00100373" "01708"
"00293408" "00198"
"00293409" "00198"
"00293410" "00198"
"00304951" "00198"
"00304952" "00198"
"00331549" "05517"
"00335381" "01279"
"00449683" "01279"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00222, 01279, 01435, 01708, 02281, 02697, 04258, 05218, 05517
## Count = 1
"{{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}}"
"0000249741" "05517" "00331549" "00000" "Familial, autosomal recessive" "" "Micromelia" "" "" "" "" "" "" "" "" "Neonatal osteosclerotic dysplasias" "skeletal dysplasia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 67
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000096270" "00095870" "1" "01744" "01744" "2017-01-18 20:15:36" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096279" "00095879" "1" "01744" "01744" "2017-01-19 14:23:18" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096280" "00095880" "1" "01744" "01744" "2017-01-19 15:14:03" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096281" "00095881" "1" "01744" "01744" "2017-01-19 15:26:10" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096299" "00095898" "1" "01744" "01744" "2017-01-21 19:09:29" "" "" "SEQ" "DNA" "tissue in paraffin" ""
"0000096300" "00095899" "1" "01744" "01744" "2017-01-21 19:42:00" "" "" "SEQ" "DNA" "dermal fibroblasts of the affected fetus" ""
"0000096301" "00095900" "1" "01744" "01744" "2017-01-22 12:41:53" "" "" "SEQ" "DNA" "dermal fibroblasts of the affected fetus" ""
"0000096302" "00095901" "1" "01744" "01744" "2017-01-22 12:51:27" "" "" "SEQ" "DNA" "tissue in paraffin" ""
"0000096303" "00095902" "1" "01744" "01744" "2017-01-22 13:16:13" "" "" "arraySNP;SEQ;SEQ-NG-I" "DNA" "peripheral blood, saliva" ""
"0000096304" "00095903" "1" "01744" "01744" "2017-01-22 13:33:46" "" "" "SEQ" "DNA" "peripheral blood, saliva" ""
"0000096305" "00095904" "1" "01744" "01744" "2017-01-22 13:42:17" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096306" "00095905" "1" "01744" "01744" "2017-01-22 13:45:12" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096307" "00095906" "1" "01744" "01744" "2017-01-22 13:59:16" "" "" "SEQ" "DNA" "tissue in paraffin, peripheral blood" ""
"0000096308" "00095907" "1" "01744" "01744" "2017-01-22 14:53:31" "" "" "SEQ" "DNA" "peripheral blood, chondrocyte-like cells" ""
"0000096317" "00095916" "1" "01744" "01744" "2017-01-24 15:52:18" "01744" "2017-01-24 16:13:54" "SEQ-NG-I" "DNA" "peripheral blood" ""
"0000096319" "00095917" "1" "01744" "01744" "2017-01-24 17:13:51" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096320" "00095918" "1" "01744" "01744" "2017-01-24 17:32:25" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096321" "00095919" "1" "01744" "01744" "2017-01-24 17:38:42" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096335" "00095932" "1" "01744" "01744" "2017-01-26 11:37:58" "" "" "SEQ" "DNA" "peripheral blood, tumour" ""
"0000096336" "00095933" "1" "01744" "01744" "2017-01-26 11:47:14" "" "" "SEQ" "DNA" "peripheral blood, tumour" ""
"0000096337" "00095934" "1" "01744" "01744" "2017-01-26 11:54:26" "" "" "SEQ" "DNA" "peripheral blood, tumour" ""
"0000096338" "00095935" "1" "01744" "01744" "2017-01-26 12:37:49" "" "" "SEQ" "DNA" "peripheral blood, tumour" ""
"0000096339" "00095936" "1" "01744" "01744" "2017-01-26 12:59:29" "" "" "SEQ" "DNA" "peripheral blood, tumour" ""
"0000096340" "00095937" "1" "01744" "01744" "2017-01-26 16:42:26" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096341" "00095938" "1" "01744" "01744" "2017-01-26 16:52:28" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096342" "00095939" "1" "01744" "01744" "2017-01-26 17:05:56" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096343" "00095940" "1" "01744" "01744" "2017-01-26 17:15:26" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096344" "00095941" "1" "01744" "01744" "2017-01-26 17:34:50" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096372" "00095969" "1" "01744" "01744" "2017-01-27 10:49:02" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096377" "00095974" "1" "01744" "01744" "2017-01-27 11:17:19" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096378" "00095975" "1" "01744" "01744" "2017-01-27 11:27:54" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000096380" "00095977" "1" "01744" "01744" "2017-01-27 11:34:02" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100613" "00100209" "1" "01744" "01744" "2017-02-03 11:46:23" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100614" "00100210" "1" "01744" "01744" "2017-02-03 12:09:38" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100615" "00100211" "1" "01744" "01744" "2017-02-03 12:12:46" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100744" "00100340" "1" "01744" "01744" "2017-02-13 09:53:55" "" "" "PAGE;Southern" "DNA" "tissue" ""
"0000100748" "00100344" "1" "01744" "01744" "2017-02-13 13:24:12" "" "" "RFLP;SEQ" "DNA" "peripheral blood" ""
"0000100749" "00100345" "1" "01744" "01744" "2017-02-13 13:31:29" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100750" "00100346" "1" "01744" "01744" "2017-02-13 13:34:44" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100751" "00100347" "1" "01744" "01744" "2017-02-13 13:36:46" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000100753" "00100349" "1" "01744" "01744" "2017-02-14 11:21:43" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100754" "00100350" "1" "01744" "01744" "2017-02-14 14:50:50" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100755" "00100351" "1" "01744" "01744" "2017-02-14 15:31:47" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100756" "00100352" "1" "01744" "01744" "2017-02-14 15:34:52" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100758" "00100354" "1" "01744" "01744" "2017-02-14 16:18:39" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100759" "00100355" "1" "01744" "01744" "2017-02-14 16:23:28" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100760" "00100356" "1" "01744" "01744" "2017-02-14 16:25:42" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100761" "00100357" "1" "01744" "01744" "2017-02-14 16:36:48" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100762" "00100358" "1" "01744" "01744" "2017-02-14 16:40:57" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100763" "00100359" "1" "01744" "01744" "2017-02-14 16:43:20" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100767" "00100363" "1" "01744" "01744" "2017-02-15 10:55:50" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100769" "00100365" "1" "01744" "01744" "2017-02-15 11:16:07" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100770" "00100366" "1" "01744" "01744" "2017-02-15 11:24:34" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100771" "00100367" "1" "01744" "01744" "2017-02-15 11:29:03" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100772" "00100368" "1" "01744" "01744" "2017-02-15 11:37:30" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100773" "00100369" "1" "01744" "01744" "2017-02-15 12:08:30" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100774" "00100370" "1" "01744" "01744" "2017-02-15 12:14:21" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100775" "00100371" "1" "01744" "01744" "2017-02-15 12:16:37" "" "" "SEQ" "DNA" "buccal cells, saliva" ""
"0000100777" "00100373" "1" "01744" "01744" "2017-02-16 16:24:52" "" "" "SEQ" "DNA" "peripheral blood" ""
"0000294576" "00293408" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294577" "00293409" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294578" "00293410" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306080" "00304951" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306081" "00304952" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000332768" "00331549" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000336610" "00335381" "1" "01741" "01741" "2021-03-05 15:02:53" "" "" "SEQ" "DNA" "" ""
"0000451273" "00449683" "1" "01741" "01741" "2024-04-30 13:51:35" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 62
"{{screeningid}}" "{{geneid}}"
"0000096270" "PTH1R"
"0000096279" "PTH1R"
"0000096280" "PTH1R"
"0000096281" "PTH1R"
"0000096299" "PTH1R"
"0000096300" "PTH1R"
"0000096301" "PTH1R"
"0000096302" "PTH1R"
"0000096303" "PTH1R"
"0000096304" "PTH1R"
"0000096305" "PTH1R"
"0000096306" "PTH1R"
"0000096307" "PTH1R"
"0000096308" "PTH1R"
"0000096317" "PTH1R"
"0000096319" "PTH1R"
"0000096320" "PTH1R"
"0000096321" "PTH1R"
"0000096335" "PTH1R"
"0000096336" "PTH1R"
"0000096337" "PTH1R"
"0000096338" "PTH1R"
"0000096339" "PTH1R"
"0000096340" "PTH1R"
"0000096341" "PTH1R"
"0000096342" "PTH1R"
"0000096343" "PTH1R"
"0000096344" "PTH1R"
"0000096372" "PTH1R"
"0000096377" "PTH1R"
"0000096378" "PTH1R"
"0000096380" "PTH1R"
"0000100613" "PTH1R"
"0000100614" "PTH1R"
"0000100615" "PTH1R"
"0000100744" "PTH1R"
"0000100748" "PTH1R"
"0000100749" "PTH1R"
"0000100750" "PTH1R"
"0000100751" "PTH1R"
"0000100753" "PTH1R"
"0000100754" "PTH1R"
"0000100755" "PTH1R"
"0000100756" "PTH1R"
"0000100758" "PTH1R"
"0000100759" "PTH1R"
"0000100760" "PTH1R"
"0000100761" "PTH1R"
"0000100762" "PTH1R"
"0000100763" "PTH1R"
"0000100767" "PTH1R"
"0000100769" "PTH1R"
"0000100770" "PTH1R"
"0000100771" "PTH1R"
"0000100772" "PTH1R"
"0000100773" "PTH1R"
"0000100774" "PTH1R"
"0000100775" "PTH1R"
"0000100777" "PTH1R"
"0000332768" "PTH1R"
"0000336610" "PTH1R"
"0000451273" "PTH1R"
## 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 = 117
"{{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}}"
"0000158244" "0" "70" "3" "46942901" "46942901" "subst" "0" "01744" "PTH1R_000015" "g.46942901C>G" "" "{PMID:Decker et al. 2008:19061984}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46901411C>G" "" "likely pathogenic" ""
"0000158263" "0" "70" "3" "46942901" "46942901" "subst" "0" "01744" "PTH1R_000015" "g.46942901C>G" "" "{PMID:Decker et al. 2008:19061984}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46901411C>G" "" "likely pathogenic" ""
"0000158264" "0" "70" "3" "46939683" "46939683" "subst" "0" "01744" "PTH1R_000016" "g.46939683G>A" "" "{PMID:Decker et al. 2008:19061984}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898193G>A" "" "likely pathogenic" ""
"0000158265" "0" "70" "3" "46939602" "46939602" "subst" "0" "01744" "PTH1R_000017" "g.46939602G>T" "" "{PMID:Decker et al. 2008:19061984}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46898112G>T" "" "likely pathogenic" ""
"0000158290" "3" "90" "3" "46937356" "46937356" "subst" "0" "01744" "PTH1R_000010" "g.46937356C>T" "" "{PMID:Hoogendam et al. 2007:17164305}" "" "c.338C>T" "completely inactivating: mutant protein lacks all functional domains of the PTHR1(large part of the extracellular N terminus, the transmembrane domains, and the intracellular C terminus" "Germline" "" "" "0" "" "" "g.46895866C>T" "" "pathogenic" ""
"0000158291" "3" "90" "3" "46942602" "46942602" "subst" "0" "01744" "PTH1R_000011" "g.46942602G>A" "" "{PMID:Hoogendam et al. 2007:17164305}" "" "intron M4+27CT" "truncated protein lacked the transmembrane domains 5, 6, and 7 and the cytoplasmatic C terminus" "Germline" "" "" "0" "" "" "g.46901112G>A" "" "pathogenic" ""
"0000158292" "3" "90" "3" "46939426" "46939426" "subst" "0" "01744" "PTH1R_000006" "g.46939426C>T" "" "{PMID:Hoogendam et al. 2007:17164305}" "" "" "P132L mutation created a receptor, which still possesses\r\nlow levels of residual activity" "Germline" "yes" "" "0" "" "" "g.46897936C>T" "" "pathogenic" ""
"0000158293" "3" "90" "3" "46939426" "46939426" "subst" "0" "01744" "PTH1R_000006" "g.46939426C>T" "" "{PMID:Hoogendam et al. 2007:17164305}" "" "" "P132L mutation created a receptor, which still possesses\r\nlow levels of residual activity" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46897936C>T" "" "pathogenic" ""
"0000158294" "21" "70" "3" "46943287" "46943287" "subst" "4.06174E-6" "01744" "PTH1R_000005" "g.46943287G>A" "" "{PMID:Yamaguchi et al. 2011:21404329}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46901797G>A" "" "likely pathogenic" ""
"0000158295" "21" "70" "3" "46939387" "46939387" "subst" "0" "01744" "PTH1R_000019" "g.46939387C>T" "" "{PMID:Yamaguchi et al. 2011:21404329}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46897897C>T" "" "likely pathogenic" ""
"0000158296" "0" "70" "3" "46939426" "46939426" "subst" "0" "01744" "PTH1R_000006" "g.46939426C>T" "" "{PMID:Yamaguchi et al. 2011:21404329}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46897936C>T" "" "likely pathogenic" ""
"0000158297" "0" "70" "3" "46939578" "46939578" "subst" "8.12203E-6" "01744" "PTH1R_000020" "g.46939578C>T" "" "{PMID:Yamaguchi et al. 2011:21404329}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46898088C>T" "" "likely pathogenic" ""
"0000158298" "3" "90" "3" "46939426" "46939426" "subst" "0" "01744" "PTH1R_000006" "g.46939426C>T" "" "{PMID:Zhang et al. 1998:9745456}" "" "c.423C>T" "Ligand binding of mutant receptor <10% of the observed for WT. cAMP accumulation was substantially reduced compared to WT." "Germline" "" "" "0" "" "" "g.46897936C>T" "" "pathogenic" ""
"0000158299" "21" "90" "3" "46943287" "46943287" "subst" "4.06174E-6" "01744" "PTH1R_000005" "g.46943287G>A" "" "{PMID:Jobert et al. 1998:9649554}" "" "G->A, nucleotide 1176" "fetus was a compound heterozygote: a confirmed mutation in maternal allele + absence of expression of the paternal allele (abnormality not identified)" "Germline" "yes" "" "0" "" "" "g.46901797G>A" "" "pathogenic" ""
"0000158312" "3" "90" "3" "46939881" "46939881" "subst" "0" "01744" "PTH1R_000027" "g.46939881G>A" "" "{PMID:Guerreiro et al. 2016: 27415614}" "" "" "abnormal interaction between PTH and the PTH1R receptor, eventually modulated by a compensatory-elevation of PTH" "Germline" "yes" "" "0" "" "" "g.46898391G>A" "" "pathogenic" ""
"0000158313" "1" "70" "3" "46939881" "46939881" "subst" "0" "01744" "PTH1R_000027" "g.46939881G>A" "" "{PMID:Guerreiro et al. 2016: 27415614}" "" "" "heterozygous: asymptomatic" "Germline" "-" "" "0" "" "" "g.46898391G>A" "" "likely pathogenic" ""
"0000158314" "3" "70" "3" "46939881" "46939881" "subst" "0" "01744" "PTH1R_000027" "g.46939881G>A" "" "{PMID:Guerreiro et al. 2016: 27415614}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46898391G>A" "" "likely pathogenic" ""
"0000158315" "3" "70" "3" "46939881" "46939881" "subst" "0" "01744" "PTH1R_000027" "g.46939881G>A" "" "{PMID:Guerreiro et al. 2016: 27415614}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46898391G>A" "" "likely pathogenic" ""
"0000158328" "0" "90" "3" "46939393" "46939393" "subst" "0" "01744" "PTH1R_000012" "g.46939393G>A" "" "{PMID:Couvineau et al. 2008:18559376}" "" "" "impaired ability of the mutant receptors to stimulate\r\ncAMP production, due to either a decrease in receptor expression and ligand affinity" "Somatic" "" "" "0" "" "" "g.46897903G>A" "" "pathogenic" ""
"0000158329" "0" "90" "3" "46940277" "46940277" "subst" "8.89023E-6" "01744" "PTH1R_000013" "g.46940277G>A" "" "{PMID:Couvineau et al. 2008:18559376}" "" "" "impaired ability of the mutant receptors to stimulate cAMP production, due to either a decrease in receptor\r\nexpression and ligand affinity" "Germline/De novo (untested)" "" "" "0" "" "" "g.46898787G>A" "" "pathogenic" ""
"0000158330" "0" "90" "3" "46939395" "46939395" "subst" "2.03171E-5" "01744" "PTH1R_000014" "g.46939395G>A" "" "{PMID:Couvineau et al. 2008:18559376}" "" "" "normal expression but suboptimal agonist-induced cAMP production" "Somatic" "" "" "0" "" "" "g.46897905G>A" "" "pathogenic" ""
"0000158331" "11" "90" "3" "46939588" "46939588" "subst" "6.09157E-5" "01744" "PTH1R_000007" "g.46939588G>A" "" "{PMID:Hopyan et al. 2002:11850620}" "" "heterozygous C→T change" "reduced maximal cAMP production but nomal expression" "Germline" "no" "" "0" "" "" "g.46898098G>A" "" "pathogenic" ""
"0000158332" "0" "90" "3" "46939588" "46939588" "subst" "6.09157E-5" "01744" "PTH1R_000007" "g.46939588G>A" "" "{PMID:Hopyan et al. 2002:11850620}" "" "heterozygous C→T change" "PTH-induced cAMP production was reduced but expression of the receptor was normal" "Somatic" "yes" "" "0" "" "" "g.46898098G>A" "" "pathogenic" ""
"0000158333" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1995:7701349}" "" "" "constitutively active receptor" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158334" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1996:8703170}" "" "" "constitutively active receptor" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158335" "21" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1996:8703170}" "" "" "constitutively active receptor" "Germline" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158336" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1996:8703170}" "" "" "constitutively active receptor" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158337" "1" "90" "3" "46944032" "46944032" "subst" "0" "01744" "PTH1R_000002" "g.46944032A>C" "" "{PMID:Schipani et al. 1996:8703170}" "" "" "resulted in constitutive activation of the receptor and significantly higher ligand-stimulated accumulation of cyclic AMP and inositol phosphate" "Germline/De novo (untested)" "" "" "0" "" "" "g.46902542A>C" "" "pathogenic" ""
"0000158367" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1999:10487664}" "" "" "reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158369" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1999:10487664}" "" "" "reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158370" "1" "90" "3" "46940181" "46940181" "subst" "0" "01744" "PTH1R_000001" "g.46940181A>G" "" "{PMID:Schipani et al. 1999:10487664}" "" "" "reduced expression, ligand-independent constitutive cAMP accumulation, did not trigger any detectable agonist-dependent inositol phosphate accumulation" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898691A>G" "" "pathogenic" ""
"0000158375" "1" "90" "3" "46944258" "46944258" "subst" "0" "01744" "PTH1R_000003" "g.46944258T>G" "" "{PMID:Schipani et al. 1999:10487664}" "" "c.1401T>G" "2- to 8-fold more cAMP than cells expressing the wild-type receptor; receptors on the cell surface was significantly reduced compared to the number of wildtype receptors; PTH-dependent cAMP accumulation were correlated with levels of receptor expression, PTH displayed increased efficacy with the mutant compared to the wild-type receptor" "Germline/De novo (untested)" "" "" "0" "" "" "g.46902768T>G" "" "pathogenic" ""
"0000162913" "11" "90" "3" "46944033" "46944033" "subst" "0" "01744" "PTH1R_000008" "g.46944033C>G" "" "{PMID:Bastepe et al. 2004:15240651}" "" "" "basal cAMP accumulation associated with the T410R mutant was only approximately 4-fold higher (less pronounced constitutive activity than T410P, 6-fold) than the wild-type receptor (consistent with the less severe form of JMC)" "Germline" "yes" "" "0" "" "" "g.46902543C>G" "" "pathogenic" ""
"0000162914" "11" "90" "3" "46944033" "46944033" "subst" "0" "01744" "PTH1R_000008" "g.46944033C>G" "" "{PMID:Bastepe et al. 2004:15240651}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46902543C>G" "" "pathogenic" ""
"0000162915" "10" "90" "3" "46944033" "46944033" "subst" "0" "01744" "PTH1R_000008" "g.46944033C>G" "" "{PMID:Bastepe et al. 2004:15240651}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46902543C>G" "" "pathogenic" ""
"0000163110" "0" "90" "3" "46939588" "46939588" "subst" "6.09157E-5" "01744" "PTH1R_000007" "g.46939588G>A" "" "{PMID:Hopyan et al. 2002:11850620}" "" "heterozygous C→T change" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46898098G>A" "" "pathogenic" ""
"0000163114" "3" "90" "3" "46944817" "46944817" "subst" "0" "01744" "PTH1R_000009" "g.46944817C>T" "" "{PMID:Duchatelet et al. 2005:15525660}" "" "C>T substitution" "" "Germline" "yes" "" "0" "" "" "g.46903327C>T" "" "pathogenic" ""
"0000163115" "3" "90" "3" "46944817" "46944817" "subst" "0" "01744" "PTH1R_000009" "g.46944817C>T" "" "{PMID:Duchatelet et al. 2005:15525660}" "" "c.480C>A (p.160K>N)" "" "Germline" "yes" "" "0" "" "" "g.46903327C>T" "" "pathogenic" ""
"0000163116" "3" "90" "3" "46944817" "46944817" "subst" "0" "01744" "PTH1R_000009" "g.46944817C>T" "" "{PMID:Duchatelet et al. 2005:15525660}" "" "C>T substitution" "" "Germline" "yes" "" "0" "" "" "g.46903327C>T" "" "pathogenic" ""
"0000163117" "3" "90" "3" "46944817" "46944817" "subst" "0" "01744" "PTH1R_000009" "g.46944817C>T" "" "{PMID:Duchatelet et al. 2005:15525660}" "" "heterozygous C→T change" "" "Germline" "yes" "" "0" "" "" "g.46903327C>T" "" "pathogenic" ""
"0000163120" "21" "90" "3" "46944238" "46944238" "subst" "0" "01744" "PTH1R_000018" "g.46944238G>A" "" "{PMID:Frazier-Bowers et al. 2010:20152661}" "" "c.1353-1G>A" "" "Germline" "yes" "" "0" "" "" "g.46902748G>A" "" "pathogenic" ""
"0000163121" "0" "70" "3" "46944238" "46944238" "subst" "0" "01744" "PTH1R_000018" "g.46944238G>A" "" "{PMID:Frazier-Bowers et al. 2010:20152661}" "" "c.1353-1G>A" "" "De novo" "yes" "" "0" "" "" "g.46902748G>A" "" "likely pathogenic" ""
"0000163122" "21" "70" "3" "46944238" "46944238" "subst" "0" "01744" "PTH1R_000018" "g.46944238G>A" "" "{PMID:Frazier-Bowers et al. 2010:20152661}" "" "c.1353-1G>A" "" "Germline" "yes" "" "0" "" "" "g.46902748G>A" "" "likely pathogenic" ""
"0000163123" "21" "70" "3" "46944238" "46944238" "subst" "0" "01744" "PTH1R_000018" "g.46944238G>A" "" "{PMID:Frazier-Bowers et al. 2010:20152661}" "" "c.1353-1G>A" "" "Germline" "yes" "" "0" "" "" "g.46902748G>A" "" "likely pathogenic" ""
"0000163125" "10" "70" "3" "46942522" "46942522" "dup" "0" "01744" "PTH1R_000021" "g.46942522dup" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46901032dup" "" "likely pathogenic" ""
"0000163126" "21" "70" "3" "46942522" "46942522" "dup" "0" "01744" "PTH1R_000021" "g.46942522dup" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46901032dup" "" "likely pathogenic" ""
"0000163127" "21" "70" "3" "46942522" "46942522" "dup" "0" "01744" "PTH1R_000021" "g.46942522dup" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46901032dup" "" "likely pathogenic" ""
"0000163128" "21" "50" "3" "46939896" "46939896" "del" "0" "01744" "PTH1R_000022" "g.46939896del" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline" "no" "" "0" "" "" "g.46898406del" "" "VUS" ""
"0000163129" "21" "50" "3" "46939896" "46939896" "del" "0" "01744" "PTH1R_000022" "g.46939896del" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline" "no" "" "0" "" "" "g.46898406del" "" "VUS" ""
"0000163130" "0" "50" "3" "46939896" "46939896" "del" "0" "01744" "PTH1R_000022" "g.46939896del" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46898406del" "" "VUS" ""
"0000163133" "1" "30" "3" "46940008" "46940008" "dup" "0" "01744" "PTH1R_000023" "g.46940008dup" "MAF: 0.03" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "c.841+46_841+47" "Polynorphism" "Germline/De novo (untested)" "" "" "0" "" "" "g.46898518dup" "" "likely benign" ""
"0000163135" "1" "10" "3" "46944274" "46944274" "subst" "0.607904" "01744" "PTH1R_000025" "g.46944274T>C" "MAF: 0.36 (T)" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000163136" "1" "50" "3" "46940059" "46940059" "subst" "0" "01744" "PTH1R_000024" "g.46940059G>A" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898569G>A" "" "VUS" ""
"0000163137" "1" "50" "3" "46940059" "46940059" "subst" "0" "01744" "PTH1R_000024" "g.46940059G>A" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.46898569G>A" "" "VUS" ""
"0000163138" "1" "50" "3" "46940159" "46940159" "subst" "0" "01744" "PTH1R_000026" "g.46940159C>A" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46898669C>A" "" "VUS" ""
"0000163139" "1" "50" "3" "46940159" "46940159" "subst" "0" "01744" "PTH1R_000026" "g.46940159C>A" "" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "Healthy" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46898669C>A" "" "VUS" ""
"0000163140" "1" "10" "3" "46944274" "46944274" "subst" "0.607904" "01744" "PTH1R_000025" "g.46944274T>C" "MAF: 0.36 (T)" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "polymorphism" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000163141" "1" "10" "3" "46944274" "46944274" "subst" "0.607904" "01744" "PTH1R_000025" "g.46944274T>C" "MAF: 0.36 (T)" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000163142" "1" "10" "3" "46944274" "46944274" "subst" "0.607904" "01744" "PTH1R_000025" "g.46944274T>C" "MAF: 0.36 (T)" "{PMID:Frazier-Bowers et al. 2014:24300310}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000163151" "3" "90" "3" "46942947" "46942947" "del" "0" "01744" "PTH1R_000004" "g.46942947del" "" "{PMID:Karperien et al. 1999:10523019}" "" "c.1122delG" "lethal" "Germline" "" "" "0" "" "" "g.46901457del" "" "pathogenic" ""
"0000297496" "0" "10" "3" "46944274" "46944274" "subst" "0.607904" "02325" "PTH1R_000025" "g.46944274T>C" "" "" "" "PTH1R(NM_000316.3):c.1389T>C (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000297497" "0" "10" "3" "46933960" "46933960" "subst" "0" "02325" "PTH1R_000028" "g.46933960C>G" "" "" "" "PTH1R(NM_000316.3):c.76-1437C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46892470C>G" "" "benign" ""
"0000306602" "0" "50" "3" "46939588" "46939588" "subst" "8.12209E-6" "01943" "PTH1R_000030" "g.46939588G>T" "" "" "" "PTH1R(NM_000316.2):c.449G>T (p.R150L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46898098G>T" "" "VUS" ""
"0000329367" "0" "50" "3" "46939686" "46939686" "subst" "4.06091E-5" "01804" "PTH1R_000031" "g.46939686C>T" "" "" "" "PTH1R(NM_000316.2):c.543+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46898196C>T" "" "VUS" ""
"0000329368" "0" "50" "3" "46940898" "46940898" "subst" "2.03089E-5" "01804" "PTH1R_000032" "g.46940898T>G" "" "" "" "PTH1R(NM_000316.2):c.940T>G (p.(Phe314Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46899408T>G" "" "VUS" ""
"0000329369" "0" "50" "3" "46940899" "46940899" "subst" "2.03077E-5" "01804" "PTH1R_000033" "g.46940899T>C" "" "" "" "PTH1R(NM_000316.2):c.941T>C (p.(Phe314Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46899409T>C" "" "VUS" ""
"0000340127" "0" "10" "3" "46944274" "46944274" "subst" "0.607904" "02327" "PTH1R_000025" "g.46944274T>C" "" "" "" "PTH1R(NM_000316.3):c.1389T>C (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46902784T>C" "" "benign" ""
"0000342821" "0" "50" "3" "46943337" "46943337" "subst" "2.84706E-5" "02327" "PTH1R_000034" "g.46943337C>T" "" "" "" "PTH1R(NM_000316.2):c.1198C>T (p.(Arg400Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46901847C>T" "" "VUS" ""
"0000519975" "0" "30" "3" "46935473" "46935473" "subst" "4.06303E-6" "01804" "PTH1R_000036" "g.46935473G>T" "" "" "" "PTH1R(NM_000316.2):c.152G>T (p.(Arg51Leu)), PTH1R(NM_000316.3):c.152G>T (p.R51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46893983G>T" "" "likely benign" ""
"0000519976" "0" "50" "3" "46937272" "46937272" "subst" "0.000418257" "01943" "PTH1R_000037" "g.46937272G>C" "" "" "" "PTH1R(NM_000316.2):c.226G>C (p.G76R), PTH1R(NM_000316.3):c.226G>C (p.G76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895782G>C" "" "VUS" ""
"0000519978" "0" "30" "3" "46937345" "46937345" "subst" "0.0020491" "01804" "PTH1R_000038" "g.46937345G>A" "" "" "" "PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)), PTH1R(NM_000316.3):c.299G>A (p.G100D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895855G>A" "" "likely benign" ""
"0000519979" "0" "50" "3" "46937362" "46937362" "subst" "0" "01804" "PTH1R_000039" "g.46937362A>T" "" "" "" "PTH1R(NM_000316.2):c.313+3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895872A>T" "" "VUS" ""
"0000519980" "0" "30" "3" "46937363" "46937363" "subst" "0.000690286" "01943" "PTH1R_000040" "g.46937363C>T" "" "" "" "PTH1R(NM_000316.2):c.313+4C>T, PTH1R(NM_000316.3):c.313+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895873C>T" "" "likely benign" ""
"0000519981" "0" "50" "3" "46939587" "46939587" "subst" "0.00168935" "01943" "PTH1R_000041" "g.46939587C>T" "" "" "" "PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)), PTH1R(NM_000316.3):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46898097C>T" "" "VUS" ""
"0000519982" "0" "50" "3" "46943283" "46943283" "subst" "2.84308E-5" "01804" "PTH1R_000042" "g.46943283G>A" "" "" "" "PTH1R(NM_000316.2):c.1144G>A (p.(Val382Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46901793G>A" "" "VUS" ""
"0000519983" "0" "50" "3" "46944950" "46944950" "subst" "2.03794E-5" "01804" "PTH1R_000043" "g.46944950A>G" "" "" "" "PTH1R(NM_000316.2):c.1586A>G (p.(Asn529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46903460A>G" "" "VUS" ""
"0000519984" "0" "30" "3" "46945000" "46945000" "subst" "0.0167075" "01804" "PTH1R_000044" "g.46945000G>A" "" "" "" "PTH1R(NM_000316.2):c.1636G>A (p.(Glu546Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46903510G>A" "" "likely benign" ""
"0000608742" "0" "50" "3" "46937345" "46937345" "subst" "0.0020491" "01943" "PTH1R_000038" "g.46937345G>A" "" "" "" "PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)), PTH1R(NM_000316.3):c.299G>A (p.G100D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895855G>A" "" "VUS" ""
"0000608743" "0" "30" "3" "46939587" "46939587" "subst" "0.00168935" "01804" "PTH1R_000041" "g.46939587C>T" "" "" "" "PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)), PTH1R(NM_000316.3):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46898097C>T" "" "likely benign" ""
"0000608744" "0" "50" "3" "46943322" "46943322" "subst" "8.12704E-6" "01804" "PTH1R_000046" "g.46943322G>A" "" "" "" "PTH1R(NM_000316.2):c.1183G>A (p.(Gly395Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46901832G>A" "" "VUS" ""
"0000621280" "0" "50" "3" "46942923" "46942923" "subst" "0" "01943" "PTH1R_000045" "g.46942923G>A" "" "" "" "PTH1R(NM_000316.2):c.1069G>A (p.G357R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46901433G>A" "" "VUS" ""
"0000651265" "1" "30" "3" "46939587" "46939587" "subst" "0.00168935" "03575" "PTH1R_000041" "g.46939587C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous; {DB:CLININrs121434601}" "Germline" "" "rs121434601" "0" "" "" "g.46898097C>T" "" "likely benign" ""
"0000651266" "1" "50" "3" "46944108" "46944108" "subst" "5.68657E-5" "03575" "PTH1R_000047" "g.46944108C>T" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs387907460.1}" "Germline" "" "rs387907460" "0" "" "" "g.46902618C>T" "" "VUS" ""
"0000651267" "1" "30" "3" "46945000" "46945000" "subst" "0.0167075" "03575" "PTH1R_000044" "g.46945000G>A" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous; {DB:CLININrs77048718}" "Germline" "" "rs77048718" "0" "" "" "g.46903510G>A" "" "likely benign" ""
"0000654966" "0" "30" "3" "46939575" "46939575" "subst" "0.00422338" "01943" "PTH1R_000048" "g.46939575C>A" "" "" "" "PTH1R(NM_000316.2):c.436C>A (p.R146=), PTH1R(NM_000316.3):c.436C>A (p.R146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46898085C>A" "" "likely benign" ""
"0000654967" "0" "50" "3" "46939950" "46939950" "subst" "0" "01804" "PTH1R_000049" "g.46939950T>C" "" "" "" "PTH1R(NM_000316.2):c.626T>C (p.(Leu209Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46898460T>C" "" "VUS" ""
"0000654968" "0" "30" "3" "46940224" "46940224" "subst" "4.12817E-6" "01943" "PTH1R_000050" "g.46940224C>A" "" "" "" "PTH1R(NM_000316.2):c.711C>A (p.I237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46898734C>A" "" "likely benign" ""
"0000654969" "0" "30" "3" "46944951" "46944951" "subst" "6.93052E-5" "01943" "PTH1R_000051" "g.46944951C>T" "" "" "" "PTH1R(NM_000316.2):c.1587C>T (p.N529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46903461C>T" "" "likely benign" ""
"0000669768" "3" "30" "3" "46939587" "46939587" "subst" "0.00168935" "03575" "PTH1R_000041" "g.46939587C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs121434601}" "Germline" "" "rs121434601" "0" "" "" "g.46898097C>T" "" "likely benign" ""
"0000669769" "3" "30" "3" "46945000" "46945000" "subst" "0.0167075" "03575" "PTH1R_000044" "g.46945000G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs77048718}" "Germline" "" "rs77048718" "0" "" "" "g.46903510G>A" "" "likely benign" ""
"0000677009" "0" "30" "3" "46939561" "46939561" "subst" "0" "01804" "PTH1R_000052" "g.46939561C>T" "" "" "" "PTH1R(NM_000316.2):c.425-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000719451" "0" "30" "3" "46942901" "46942901" "dup" "0" "01804" "PTH1R_000054" "g.46942901dup" "" "" "" "PTH1R(NM_000316.2):c.1050-3dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000730050" "3" "90" "3" "46935430" "46935430" "subst" "0" "00000" "PTH1R_000053" "g.46935430C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000316.2:c.109C>A:p.(Gln37Lys)" "" "Germline" "" "" "0" "" "" "g.46893940C>A" "" "likely pathogenic (recessive)" ""
"0000736055" "0" "70" "3" "46939456" "46939456" "subst" "0" "01741" "PTH1R_000055" "g.46939456G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000801247" "0" "50" "3" "46937272" "46937272" "subst" "0.000418257" "02325" "PTH1R_000037" "g.46937272G>C" "" "" "" "PTH1R(NM_000316.2):c.226G>C (p.G76R), PTH1R(NM_000316.3):c.226G>C (p.G76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850344" "0" "30" "3" "46939587" "46939587" "subst" "0.00168935" "02325" "PTH1R_000041" "g.46939587C>T" "" "" "" "PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)), PTH1R(NM_000316.3):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850345" "0" "50" "3" "46944132" "46944132" "subst" "0" "02327" "PTH1R_000056" "g.46944132A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885858" "0" "30" "3" "46939575" "46939575" "subst" "0.00422338" "02326" "PTH1R_000048" "g.46939575C>A" "" "" "" "PTH1R(NM_000316.2):c.436C>A (p.R146=), PTH1R(NM_000316.3):c.436C>A (p.R146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885859" "0" "50" "3" "46940338" "46940340" "dup" "0" "01804" "PTH1R_000057" "g.46940338_46940340dup" "" "" "" "PTH1R(NM_000316.2):c.822_823insGCT (p.(Ala276dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885860" "0" "50" "3" "46942965" "46942965" "subst" "0" "02325" "PTH1R_000058" "g.46942965A>C" "" "" "" "PTH1R(NM_000316.3):c.1111A>C (p.I371L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000885861" "0" "50" "3" "46943337" "46943337" "subst" "2.84706E-5" "01804" "PTH1R_000034" "g.46943337C>T" "" "" "" "PTH1R(NM_000316.2):c.1198C>T (p.(Arg400Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911950" "0" "50" "3" "46935466" "46935466" "subst" "4.06359E-6" "01804" "PTH1R_000059" "g.46935466G>A" "" "" "" "PTH1R(NM_000316.2):c.145G>A (p.(Glu49Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911951" "0" "50" "3" "46937345" "46937345" "subst" "0.0020491" "02325" "PTH1R_000038" "g.46937345G>A" "" "" "" "PTH1R(NM_000316.2):c.299G>A (p.G100D, p.(Gly100Asp)), PTH1R(NM_000316.3):c.299G>A (p.G100D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911952" "0" "50" "3" "46939666" "46939666" "subst" "6.49699E-5" "02325" "PTH1R_000060" "g.46939666A>G" "" "" "" "PTH1R(NM_000316.3):c.527A>G (p.N176S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927952" "0" "70" "3" "46937356" "46937363" "del" "0" "03779" "PTH1R_000061" "g.46937356_46937363del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000928791" "0" "50" "3" "46935473" "46935473" "subst" "4.06303E-6" "02325" "PTH1R_000036" "g.46935473G>T" "" "" "" "PTH1R(NM_000316.2):c.152G>T (p.(Arg51Leu)), PTH1R(NM_000316.3):c.152G>T (p.R51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928792" "0" "30" "3" "46937363" "46937363" "subst" "0.000690286" "02325" "PTH1R_000040" "g.46937363C>T" "" "" "" "PTH1R(NM_000316.2):c.313+4C>T, PTH1R(NM_000316.3):c.313+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975844" "0" "50" "3" "46942966" "46942966" "subst" "4.57954E-5" "02325" "PTH1R_000062" "g.46942966T>C" "" "" "" "PTH1R(NM_000316.3):c.1112T>C (p.I371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975845" "0" "50" "3" "46944251" "46944251" "subst" "3.27022E-5" "01804" "PTH1R_000063" "g.46944251G>A" "" "" "" "PTH1R(NM_000316.3):c.1366G>A (p.(Ala456Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000985101" "0" "70" "3" "46939683" "46939683" "subst" "0" "01741" "PTH1R_000064" "g.46939683G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000993689" "0" "30" "3" "46937261" "46937261" "subst" "4.06072E-5" "01804" "PTH1R_000065" "g.46937261C>T" "" "" "" "PTH1R(NM_000316.2):c.215C>T (p.(Ala72Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000993690" "0" "50" "3" "46939680" "46939680" "subst" "2.03054E-5" "01804" "PTH1R_000066" "g.46939680C>T" "" "" "" "PTH1R(NM_000316.2):c.541C>T (p.(Arg181Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993691" "0" "50" "3" "46940342" "46940342" "subst" "4.35079E-5" "01804" "PTH1R_000067" "g.46940342G>A" "" "" "" "PTH1R(NM_000316.2):c.829G>A (p.(Gly277Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993692" "0" "50" "3" "46943350" "46943350" "subst" "1.22283E-5" "01804" "PTH1R_000068" "g.46943350G>A" "" "" "" "PTH1R(NM_000316.2):c.1211G>A (p.(Arg404Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993693" "0" "50" "3" "46944275" "46944275" "subst" "1.22927E-5" "01804" "PTH1R_000069" "g.46944275G>A" "" "" "" "PTH1R(NM_000316.2):c.1390G>A (p.(Gly464Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001011768" "0" "70" "3" "46940873" "46940873" "subst" "0" "03779" "PTH1R_000070" "g.46940873C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1575522892" "0" "" "" "" "" "likely pathogenic" ""
"0001013897" "0" "30" "3" "46939587" "46939587" "subst" "0.00168935" "02326" "PTH1R_000041" "g.46939587C>T" "" "" "" "PTH1R(NM_000316.2):c.448C>T (p.R150C, p.(Arg150Cys)), PTH1R(NM_000316.3):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 PTH1R
## Count = 117
"{{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}}"
"0000158244" "00017115" "70" "1050" "-3" "1050" "-3" "c.1050-3C>G" "r.1049_1116del" "p.Cys351Serfs*133" "11i"
"0000158263" "00017115" "70" "1050" "-3" "1050" "-3" "c.1050-3C>G" "r.1049_1116del" "p.Cys351Serfs*133" "i11"
"0000158264" "00017115" "70" "543" "1" "543" "1" "c.543+1G>A" "r.spl?" "p.Glu182Valfs*20" "i7"
"0000158265" "00017115" "70" "463" "0" "463" "0" "c.463G>T" "r.(?)" "p.(Glu155*)" "7"
"0000158290" "00017115" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "5"
"0000158291" "00017115" "90" "1049" "27" "1049" "27" "c.1049+27G>A" "r.[=, 1049_1050ins1049+1_1049+27]" "p.Cys351*" "11i"
"0000158292" "00017115" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "6"
"0000158293" "00017115" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "6"
"0000158294" "00017115" "70" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Arg383Gln)" "13"
"0000158295" "00017115" "70" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Pro119Leu)" "6"
"0000158296" "00017115" "70" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "6"
"0000158297" "00017115" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "7"
"0000158298" "00017115" "90" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Pro132Leu)" "6"
"0000158299" "00017115" "90" "1148" "0" "1148" "0" "c.1148G>A" "r.1117_1148del" "p.Leu373_Arg383del" "13"
"0000158312" "00017115" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186His)" "8"
"0000158313" "00017115" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186His)" "8"
"0000158314" "00017115" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186His)" "8"
"0000158315" "00017115" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Arg186His)" "8"
"0000158328" "00017115" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Gly121Glu)" "6"
"0000158329" "00017115" "90" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" "9"
"0000158330" "00017115" "90" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Ala122Thr)" "6"
"0000158331" "00017115" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" "7"
"0000158332" "00017115" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" "7"
"0000158333" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158334" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158335" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158336" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158337" "00017115" "90" "1228" "0" "1228" "0" "c.1228A>C" "r.(?)" "p.(Thr410Pro)" "14"
"0000158367" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158369" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158370" "00017115" "90" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(His223Arg)" "9"
"0000158375" "00017115" "90" "1373" "0" "1373" "0" "c.1373T>G" "r.(?)" "p.(Ile458Arg)" "15"
"0000162913" "00017115" "90" "1229" "0" "1229" "0" "c.1229C>G" "r.(?)" "p.(Thr410Arg)" "14"
"0000162914" "00017115" "90" "1229" "0" "1229" "0" "c.1229C>G" "r.(?)" "p.(Thr410Arg)" "14"
"0000162915" "00017115" "90" "1229" "0" "1229" "0" "c.1229C>G" "r.(?)" "p.(Thr410Arg)" "14"
"0000163110" "00017115" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" "7"
"0000163114" "00017115" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485*)" "16"
"0000163115" "00017115" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485*)" "16"
"0000163116" "00017115" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485*)" "16"
"0000163117" "00017115" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485*)" "16"
"0000163120" "00017115" "90" "1354" "-1" "1354" "-1" "c.1354-1G>A" "r.spl?" "p.?" "14i"
"0000163121" "00017115" "70" "1354" "-1" "1354" "-1" "c.1354-1G>A" "r.spl?" "p.?" "14i"
"0000163122" "00017115" "70" "1354" "-1" "1354" "-1" "c.1354-1G>A" "r.spl?" "p.?" "14i"
"0000163123" "00017115" "70" "1354" "-1" "1354" "-1" "c.1354-1G>A" "r.spl?" "p.?" "14i"
"0000163125" "00017115" "70" "996" "0" "996" "0" "c.996dup" "r.(?)" "p.(Ala333Argfs*66)" "11"
"0000163126" "00017115" "70" "996" "0" "996" "0" "c.996dup" "r.(?)" "p.(Ala333Argfs*66)" "11"
"0000163127" "00017115" "70" "996" "0" "996" "0" "c.996dup" "r.(?)" "p.(Ala333Argfs*66)" "11"
"0000163128" "00017115" "50" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Tyr191Serfs*14)" "8"
"0000163129" "00017115" "50" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Tyr191Serfs*14)" "8"
"0000163130" "00017115" "50" "572" "0" "572" "0" "c.572del" "r.(?)" "p.(Tyr191Serfs*14)" "8"
"0000163133" "00017115" "30" "638" "46" "638" "46" "c.638+46dup" "r.(=)" "p.(=)" "8i"
"0000163135" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(=)" "p.(=)" "15"
"0000163136" "00017115" "50" "639" "-93" "639" "-93" "c.639-93G>A" "r.(=)" "p.(=)" "8i"
"0000163137" "00017115" "50" "639" "-93" "639" "-93" "c.639-93G>A" "r.(=)" "p.(=)" "8i"
"0000163138" "00017115" "50" "646" "0" "646" "0" "c.646C>A" "r.(?)" "p.(His216Asn)" "9"
"0000163139" "00017115" "50" "646" "0" "646" "0" "c.646C>A" "r.(?)" "p.(His216Asn)" "9"
"0000163140" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(=)" "p.(=)" "15"
"0000163141" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(=)" "p.(=)" "15"
"0000163142" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(=)" "p.(=)" "15"
"0000163151" "00017115" "90" "1093" "0" "1093" "0" "c.1093del" "r.(?)" "p.(Val365Cysfs*141)" "12"
"0000297496" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(?)" "p.(Asn463=)" ""
"0000297497" "00017115" "10" "76" "-1437" "76" "-1437" "c.76-1437C>G" "r.(=)" "p.(=)" ""
"0000306602" "00017115" "50" "449" "0" "449" "0" "c.449G>T" "r.(?)" "p.(Arg150Leu)" ""
"0000329367" "00017115" "50" "543" "4" "543" "4" "c.543+4C>T" "r.spl?" "p.?" ""
"0000329368" "00017115" "50" "940" "0" "940" "0" "c.940T>G" "r.(?)" "p.(Phe314Val)" ""
"0000329369" "00017115" "50" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Phe314Ser)" ""
"0000340127" "00017115" "10" "1389" "0" "1389" "0" "c.1389T>C" "r.(?)" "p.(Asn463=)" ""
"0000342821" "00017115" "50" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Trp)" ""
"0000519975" "00017115" "30" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Arg51Leu)" ""
"0000519976" "00017115" "50" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" ""
"0000519978" "00017115" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Asp)" ""
"0000519979" "00017115" "50" "313" "3" "313" "3" "c.313+3A>T" "r.spl?" "p.?" ""
"0000519980" "00017115" "30" "313" "4" "313" "4" "c.313+4C>T" "r.spl?" "p.?" ""
"0000519981" "00017115" "50" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000519982" "00017115" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Val382Ile)" ""
"0000519983" "00017115" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" ""
"0000519984" "00017115" "30" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Glu546Lys)" ""
"0000608742" "00017115" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Asp)" ""
"0000608743" "00017115" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000608744" "00017115" "50" "1183" "0" "1183" "0" "c.1183G>A" "r.(?)" "p.(Gly395Ser)" ""
"0000621280" "00017115" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Arg)" ""
"0000651265" "00017115" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000651266" "00017115" "50" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Thr435Met)" ""
"0000651267" "00017115" "30" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Glu546Lys)" ""
"0000654966" "00017115" "30" "436" "0" "436" "0" "c.436C>A" "r.(?)" "p.(Arg146=)" ""
"0000654967" "00017115" "50" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Leu209Pro)" ""
"0000654968" "00017115" "30" "711" "0" "711" "0" "c.711C>A" "r.(?)" "p.(Ile237=)" ""
"0000654969" "00017115" "30" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(Asn529=)" ""
"0000669768" "00017115" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000669769" "00017115" "30" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Glu546Lys)" ""
"0000677009" "00017115" "30" "425" "-3" "425" "-3" "c.425-3C>T" "r.spl?" "p.?" ""
"0000719451" "00017115" "30" "1050" "-3" "1050" "-3" "c.1050-3dup" "r.spl?" "p.?" ""
"0000730050" "00017115" "90" "109" "0" "109" "0" "c.109C>A" "r.(?)" "p.(Gln37Lys)" ""
"0000736055" "00017115" "70" "424" "1" "424" "1" "c.424+1G>T" "r.spl?" "p.?" ""
"0000801247" "00017115" "50" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" ""
"0000850344" "00017115" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000850345" "00017115" "50" "1328" "0" "1328" "0" "c.1328A>G" "r.(?)" "p.(Tyr443Cys)" ""
"0000885858" "00017115" "30" "436" "0" "436" "0" "c.436C>A" "r.(?)" "p.(Arg146=)" ""
"0000885859" "00017115" "50" "825" "0" "827" "0" "c.825_827dup" "r.(?)" "p.(Ala276dup)" ""
"0000885860" "00017115" "50" "1111" "0" "1111" "0" "c.1111A>C" "r.(?)" "p.(Ile371Leu)" ""
"0000885861" "00017115" "50" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Arg400Trp)" ""
"0000911950" "00017115" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Glu49Lys)" ""
"0000911951" "00017115" "50" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Gly100Asp)" ""
"0000911952" "00017115" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Asn176Ser)" ""
"0000927952" "00017115" "70" "310" "0" "313" "4" "c.310_313+4del" "r.(?)" "p.(?)" ""
"0000928791" "00017115" "50" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Arg51Leu)" ""
"0000928792" "00017115" "30" "313" "4" "313" "4" "c.313+4C>T" "r.spl?" "p.?" ""
"0000975844" "00017115" "50" "1112" "0" "1112" "0" "c.1112T>C" "r.(?)" "p.(Ile371Thr)" ""
"0000975845" "00017115" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Ala456Thr)" ""
"0000985101" "00017115" "70" "543" "1" "543" "1" "c.543+1G>C" "r.spl" "p.?" ""
"0000993689" "00017115" "30" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" ""
"0000993690" "00017115" "50" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Trp)" ""
"0000993691" "00017115" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" ""
"0000993692" "00017115" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" ""
"0000993693" "00017115" "50" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Gly464Ser)" ""
"0001011768" "00017115" "70" "915" "0" "915" "0" "c.915C>A" "r.(?)" "p.(Tyr305Ter)" ""
"0001013897" "00017115" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 68
"{{screeningid}}" "{{variantid}}"
"0000096270" "0000158244"
"0000096279" "0000158263"
"0000096280" "0000158264"
"0000096281" "0000158265"
"0000096299" "0000158290"
"0000096300" "0000158291"
"0000096301" "0000158292"
"0000096302" "0000158293"
"0000096303" "0000158294"
"0000096304" "0000158295"
"0000096305" "0000158296"
"0000096306" "0000158297"
"0000096307" "0000158298"
"0000096308" "0000158299"
"0000096317" "0000158312"
"0000096319" "0000158313"
"0000096320" "0000158314"
"0000096321" "0000158315"
"0000096335" "0000158328"
"0000096336" "0000158329"
"0000096337" "0000158330"
"0000096338" "0000158331"
"0000096339" "0000158332"
"0000096340" "0000158333"
"0000096341" "0000158334"
"0000096342" "0000158335"
"0000096343" "0000158336"
"0000096344" "0000158337"
"0000096372" "0000158367"
"0000096377" "0000158369"
"0000096378" "0000158370"
"0000096380" "0000158375"
"0000100613" "0000162913"
"0000100614" "0000162914"
"0000100615" "0000162915"
"0000100744" "0000163110"
"0000100748" "0000163114"
"0000100749" "0000163115"
"0000100750" "0000163116"
"0000100751" "0000163117"
"0000100753" "0000163120"
"0000100754" "0000163121"
"0000100755" "0000163122"
"0000100756" "0000163123"
"0000100758" "0000163125"
"0000100759" "0000163126"
"0000100760" "0000163127"
"0000100761" "0000163128"
"0000100762" "0000163129"
"0000100763" "0000163130"
"0000100767" "0000163133"
"0000100767" "0000163135"
"0000100769" "0000163136"
"0000100770" "0000163137"
"0000100771" "0000163138"
"0000100772" "0000163139"
"0000100773" "0000163140"
"0000100774" "0000163141"
"0000100775" "0000163142"
"0000100777" "0000163151"
"0000294576" "0000651265"
"0000294577" "0000651266"
"0000294578" "0000651267"
"0000306080" "0000669768"
"0000306081" "0000669769"
"0000332768" "0000730050"
"0000336610" "0000736055"
"0000451273" "0000985101"