### 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" "00006" "2025-11-23 14:42:25"
## 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 = 69
"{{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" "" "" "" "" "" "" "" "" "" "" ""
"00469874" "" "" "" "1" "" "00006" "{PMID:Moirangthem 2018:29987841}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "patient;?"
"00469875" "" "" "" "1" "" "00006" "{PMID:Jacob 20219:31297790}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "patient;?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 71
"{{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"
"00469874" "05517"
"00469875" "05517"
## 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 = 3
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000249741" "05517" "00331549" "00000" "Familial, autosomal recessive" "" "Micromelia" "" "" "" "" "" "" "" "" "Neonatal osteosclerotic dysplasias" "skeletal dysplasia" ""
"0000355019" "05517" "00469874" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., failure eruption primary teeth; 1y-prominent forehead; 4y-febrile seizures; normal developmental milestones, no intellectual disability" "07y" "" "failure eruption primary teeth" "" "" "" "" "" "EKNS" "failure eruption primary teeth" ""
"0000355020" "05517" "00469875" "00006" "Familial, autosomal recessive" "06y05m" "see paper; ..., delayed motor development, short stature, unerupted teeth; 6y5m-weight 13.3 kg (−8.7 SD), height 80 cm (−7.8 SD), OFC 50 cm (−0.54 SD); undermodeling tubular bones, broad distal ends of radius/ulna, remarkable delay in carpal ossification; short/broad undermodeled metacarpals/phalanges, small metacarpal epiphyses, round phalangeal epiphyses, angel shaped middle phalanges second to fourth fingers; Arnold-Chiari malformation type" "" "" "" "" "" "" "" "" "EKNS" "skeletal dysplasia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 69
"{{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" "" ""
"0000471542" "00469874" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000471543" "00469875" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "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 = 122
"{{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" "30" "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" "" "likely benign" ""
"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" ""
"0001051297" "0" "30" "3" "46940145" "46940145" "subst" "0" "01804" "PTH1R_000071" "g.46940145C>T" "" "" "" "PTH1R(NM_000316.3):c.639-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051298" "0" "50" "3" "46940898" "46940899" "delins" "0" "01804" "PTH1R_000072" "g.46940898_46940899delinsGC" "" "" "" "PTH1R(NM_000316.3):c.940_941delinsGC (p.(Phe314Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001051299" "0" "30" "3" "46944161" "46944161" "subst" "8.12381E-6" "01804" "PTH1R_000073" "g.46944161C>T" "" "" "" "PTH1R(NM_000316.3):c.1353+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001059690" "3" "70" "3" "46935424" "46935424" "subst" "0" "00006" "PTH1R_000074" "g.46935424G>A" "" "{PMID:Moirangthem 2018:29987841}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.46893934G>A" "SCV000746262.1" "likely pathogenic (recessive)" ""
"0001059691" "3" "70" "3" "46939432" "46939432" "subst" "0" "00006" "PTH1R_000075" "g.46939432A>C" "" "{PMID:Jacob 20219:31297790}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.46897942A>C" "SCV000902435.1" "likely pathogenic (recessive)" ""
## 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 = 122
"{{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" "30" "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)" ""
"0001051297" "00017115" "30" "639" "-7" "639" "-7" "c.639-7C>T" "r.(=)" "p.(=)" ""
"0001051298" "00017115" "50" "940" "0" "941" "0" "c.940_941delinsGC" "r.(?)" "p.(Phe314Ala)" ""
"0001051299" "00017115" "30" "1353" "4" "1353" "4" "c.1353+4C>T" "r.spl?" "p.?" ""
"0001059690" "00017115" "70" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Glu35Lys)" ""
"0001059691" "00017115" "70" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Tyr134Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 70
"{{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"
"0000471542" "0001059690"
"0000471543" "0001059691"