### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GIPC1) # 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}}" "GIPC1" "GIPC PDZ domain containing family, member 1" "19" "p13.1" "unknown" "NC_000019.9" "UD_136016833867" "" "https://www.LOVD.nl/GIPC1" "" "1" "1226" "10755" "605072" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GIPC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-14 18:53:30" "00006" "2021-12-13 16:17:37" ## 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}}" "00025507" "GIPC1" "transcript variant 1" "001" "NM_005716.3" "" "NP_005707.1" "" "" "" "-287" "1659" "1002" "14606961" "14588571" "00006" "2020-05-14 18:54:39" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "05741" "OPDM" "myopathy, oculopharyngodistal (OPDM)" "" "" "" "" "" "00006" "2020-05-14 18:50:02" "" "" "05831" "OPDM2" "myopathy, oculopharyngodistal, type 2 (OPDM2)" "AD" "618940" "" "" "" "00006" "2020-09-14 08:55:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GIPC1" "05741" "GIPC1" "05831" ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{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}}" "00301326" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301327" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301328" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301329" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301330" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301331" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301332" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301333" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301334" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301335" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301336" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301337" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301338" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301339" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301340" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301341" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "China" "" "0" "" "" "" "controls" "00301348" "" "" "" "8" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "6-generation family, 8 affected (3F, 5M)" "F" "" "China" "" "0" "" "" "" "Fam1Pat12" "00301349" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "3-generation family, 3 affected (2F, M)" "F" "" "China" "" "0" "" "" "" "Fam7Pat1" "00301350" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "2-generation family, 3 affected (2F, M)" "F" "" "China" "" "0" "" "" "" "Fam8Pat1" "00301351" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "PatS1" "00301352" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "PatS2" "00301353" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "PatS3" "00301354" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "PatS4" "00301355" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "PatS5" "00301356" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "PatS6" "00301357" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "PatS7" "00301358" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "PatS8" "00301359" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "PatS9" "00301361" "" "" "" "3" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "3-generation family, 3 affected (F, 2M)" "M" "" "Japan" "" "0" "" "" "" "FamJ1PatII3" "00301362" "" "" "00301361" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "3-generation family, 5 affected (3F, 2M)" "M" "" "Japan" "" "0" "" "" "" "FamJ1PatII4" "00301363" "" "" "00301361" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "Japan" "" "0" "" "" "" "FamJ1PatIII3" "00301364" "" "" "" "5" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "Japan" "" "0" "" "" "" "FamJ2PatII5" "00301365" "" "" "00301364" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "Japan" "" "0" "" "" "" "FamJ2PatII7" "00301366" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "3-generation family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "FamJ3" "00301367" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "2-generation family, 1 affected" "F" "" "Japan" "" "0" "" "" "" "FamJ4" "00301368" "" "" "" "5" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "2-generation family, 5 affected (3F, 2M)" "" "" "Japan" "" "0" "" "" "" "FamJ5" "00301369" "" "" "" "2" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "2-generation family, 2 affected (F, M)" "" "" "Japan" "" "0" "" "" "" "FamJ6" "00301370" "" "" "" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "3-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "FamJ7" "00301372" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "Fam1Pat8" "00301373" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "Fam1Pat9" "00301374" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "Fam1Pat10" "00301375" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "Fam1Pat11" "00301376" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "M" "" "China" "" "0" "" "" "" "Fam1Pat13" "00301377" "" "" "00301348" "1" "" "00006" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "F" "" "China" "" "0" "" "" "" "Fam1Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00301326" "00000" "00301327" "00000" "00301328" "00000" "00301329" "00000" "00301330" "00000" "00301331" "00000" "00301332" "00000" "00301333" "00000" "00301334" "00000" "00301335" "00000" "00301336" "00000" "00301337" "00000" "00301338" "00000" "00301339" "00000" "00301340" "00000" "00301341" "00000" "00301348" "05741" "00301349" "05741" "00301350" "05741" "00301351" "05741" "00301352" "05741" "00301353" "05741" "00301354" "05741" "00301355" "05741" "00301356" "05741" "00301357" "05741" "00301358" "05741" "00301359" "05741" "00301361" "05741" "00301362" "05741" "00301363" "05741" "00301364" "05741" "00301365" "05741" "00301366" "05741" "00301367" "05741" "00301368" "05741" "00301369" "05741" "00301370" "05741" "00301372" "05741" "00301373" "05741" "00301374" "05741" "00301375" "05741" "00301376" "05741" "00301377" "05741" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05741, 05831 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000228541" "05741" "00301348" "00006" "Familial, autosomal dominant" "38y" "see paper; ..., disease duration 24y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 849 IU/L; rimmed vacuoles (HP:0003805)" "14y" "" "weakness in closing eyes" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228542" "05741" "00301349" "00006" "Familial, autosomal dominant" "36y" "disease duration 5y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 277 IU/L; rimmed vacuoles (HP:0003805)" "31y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228543" "05741" "00301350" "00006" "Familial, autosomal dominant" "45y" "disease duration 7y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 358 IU/L; rimmed vacuoles (HP:0003805)" "38y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228544" "05741" "00301351" "00006" "Unknown" "49y" "disease duration 19y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 174 IU/L; rimmed vacuoles (HP:0003805)" "30y" "" "weakness in climbing up stairs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228545" "05741" "00301352" "00006" "Unknown" "28y" "disease duration 8y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 1,09 IU/L; rimmed vacuoles (HP:0003805)" "20y" "" "weakness in the right leg" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228546" "05741" "00301353" "00006" "Unknown" "37y" "disease duration 9y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 581 IU/L; rimmed vacuoles (HP:0003805)" "28y" "" "bilateral ptosis" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228547" "05741" "00301354" "00006" "Unknown" "29y" "see paper; ..., disease duration 7y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 790 IU/L; rimmed vacuoles (HP:0003805)" "22y" "" "weakness in climbing up stairs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228548" "05741" "00301355" "00006" "Unknown" "41y" "see paper; ..., disease duration 8y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 2,524 IU/L; rimmed vacuoles (HP:0003805)" "33y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228549" "05741" "00301356" "00006" "Unknown" "35y" "disease duration 11y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change, neurogenic change; elevated serum Creatine Kinase (HP:0003236) 154 IU/L; rimmed vacuoles (HP:0003805)" "24y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228550" "05741" "00301357" "00006" "Unknown" "27y" "disease duration 1y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); elevated serum Creatine Kinase (HP:0003236) >1,000 IU/L; rimmed vacuoles (HP:0003805)" "26y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228551" "05741" "00301358" "00006" "Unknown" "24y" "disease duration 3y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 455 IU/L; rimmed vacuoles (HP:0003805)" "21y" "" "weakness in bilateral legs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" "0000228552" "05741" "00301359" "00006" "Unknown" "49y" "disease duration 12y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); elevated serum Creatine Kinase (HP:0003236) 345 IU/L; rimmed vacuoles (HP:0003805)" "37y" "" "weakness of four limbs" "" "" "" "" "OPDM2" "oculopharyngodistal myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 44 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302450" "00301326" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302451" "00301327" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302452" "00301328" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302453" "00301329" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302454" "00301330" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302455" "00301331" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302456" "00301332" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302457" "00301333" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302458" "00301334" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302459" "00301335" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302460" "00301336" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302461" "00301337" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302462" "00301338" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302463" "00301339" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302464" "00301340" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302465" "00301341" "1" "00006" "00006" "2020-05-14 19:51:25" "" "" "PCR" "DNA" "" "" "0000302469" "00301348" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302470" "00301349" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302471" "00301350" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302472" "00301351" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302473" "00301352" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302474" "00301353" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302475" "00301354" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302476" "00301355" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302477" "00301356" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302478" "00301357" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302479" "00301358" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302480" "00301359" "1" "00006" "00006" "2020-05-15 09:40:23" "" "" "PCR;PCRrp" "DNA" "" "" "0000302481" "00301361" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302482" "00301362" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302483" "00301363" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302484" "00301364" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302485" "00301365" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302486" "00301366" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302487" "00301367" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302488" "00301368" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302489" "00301369" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302490" "00301370" "1" "00006" "00006" "2020-05-15 09:58:09" "" "" "PCR;PCRrp" "DNA" "" "" "0000302493" "00301372" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" "0000302494" "00301373" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" "0000302495" "00301374" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" "0000302496" "00301375" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" "0000302497" "00301376" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" "0000302498" "00301377" "1" "00006" "00006" "2020-05-15 10:15:19" "" "" "PCR;PCRrp" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000302450" "GIPC1" "0000302451" "GIPC1" "0000302452" "GIPC1" "0000302453" "GIPC1" "0000302454" "GIPC1" "0000302455" "GIPC1" "0000302456" "GIPC1" "0000302457" "GIPC1" "0000302458" "GIPC1" "0000302459" "GIPC1" "0000302460" "GIPC1" "0000302461" "GIPC1" "0000302462" "GIPC1" "0000302463" "GIPC1" "0000302464" "GIPC1" "0000302465" "GIPC1" "0000302469" "GIPC1" "0000302470" "GIPC1" "0000302471" "GIPC1" "0000302472" "GIPC1" "0000302473" "GIPC1" "0000302474" "GIPC1" "0000302475" "GIPC1" "0000302476" "GIPC1" "0000302477" "GIPC1" "0000302478" "GIPC1" "0000302479" "GIPC1" "0000302480" "GIPC1" "0000302481" "GIPC1" "0000302482" "GIPC1" "0000302483" "GIPC1" "0000302484" "GIPC1" "0000302485" "GIPC1" "0000302486" "GIPC1" "0000302487" "GIPC1" "0000302488" "GIPC1" "0000302489" "GIPC1" "0000302490" "GIPC1" "0000302493" "GIPC1" "0000302494" "GIPC1" "0000302495" "GIPC1" "0000302496" "GIPC1" "0000302497" "GIPC1" "0000302498" "GIPC1" ## 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 = 48 "{{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}}" "0000277062" "0" "10" "19" "14590236" "14590236" "subst" "0.320109" "02330" "GIPC1_000002" "g.14590236C>T" "" "" "" "GIPC1(NM_005716.4):c.756G>A (p.T252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14479424C>T" "" "benign" "" "0000277063" "0" "10" "19" "14589378" "14589378" "subst" "0.213414" "02330" "GIPC1_000001" "g.14589378C>T" "" "" "" "GIPC1(NM_005716.4):c.852G>A (p.A284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14478566C>T" "" "benign" "" "0000306599" "0" "50" "19" "14584811" "14584811" "subst" "5.02341E-5" "01943" "PTGER1_000001" "g.14584811C>G" "" "" "" "PTGER1(NM_000955.3):c.322G>C (p.G108R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14473999C>G" "" "VUS" "" "0000566330" "0" "50" "19" "14584673" "14584673" "subst" "0.00181159" "01943" "PKN1_000002" "g.14584673C>T" "" "" "" "PTGER1(NM_000955.3):c.460G>A (p.A154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14473861C>T" "" "VUS" "" "0000665739" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000001" "g.(14606845_14607013)insN[6]" "0.005" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[6]" "" "benign" "" "0000665740" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000002" "g.(14606845_14607013)insN[9]" "0.06" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[9]" "" "benign" "" "0000665741" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000003" "g.(14606845_14607013)insN[12]" "0.35" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[12]" "" "benign" "" "0000665742" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000004" "g.(14606845_14607013)insN[15]" "0.295" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[15]" "" "benign" "" "0000665743" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000005" "g.(14606845_14607013)insN[18]" "0.07" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[18]" "" "benign" "" "0000665744" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000006" "g.(14606845_14607013)insN[21]" "0.03" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[21]" "" "benign" "" "0000665745" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000007" "g.(14606845_14607013)insN[24]" "0.03" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[24]" "" "benign" "" "0000665746" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000008" "g.(14606845_14607013)insN[27]" "0.01" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[27]" "" "benign" "" "0000665747" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000009" "g.(14606845_14607013)insN[30]" "0.02" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[30]" "" "benign" "" "0000665748" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000010" "g.(14606845_14607013)insN[33]" "0.03" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[33]" "" "benign" "" "0000665749" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000011" "g.(14606845_14607013)insN[36]" "0.03" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[36]" "" "benign" "" "0000665750" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000012" "g.(14606845_14607013)insN[39]" "0.02" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[39]" "" "benign" "" "0000665751" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000013" "g.(14606845_14607013)insN[42]" "0.02" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[42]" "" "benign" "" "0000665752" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000014" "g.(14606845_14607013)insN[45]" "0.02" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[45]" "" "benign" "" "0000665753" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000015" "g.(14606845_14607013)insN[57]" "0.005" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[57]" "" "benign" "" "0000665754" "1" "10" "19" "14606845" "14607013" "" "0" "00006" "GIPC1_000016" "g.(14606845_14607013)insN[60]" "0.005" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496033_14496201)insN[60]" "" "benign" "" "0000665757" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000017" "g.(14606854_14606885i)nsN[318]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[318]" "" "pathogenic (dominant)" "" "0000665758" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000018" "g.(14606854_14606885i)nsN[312]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[312]" "" "pathogenic (dominant)" "" "0000665759" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000019" "g.(14606854_14606885i)nsN[291]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[291]" "" "pathogenic (dominant)" "" "0000665760" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000020" "g.(14606854_14606885i)nsN[375]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[375]" "" "pathogenic (dominant)" "" "0000665761" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000017" "g.(14606854_14606885i)nsN[318]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[318]" "" "pathogenic (dominant)" "" "0000665762" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000019" "g.(14606854_14606885i)nsN[291]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[291]" "" "pathogenic (dominant)" "" "0000665763" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000021" "g.(14606854_14606885i)nsN[327]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[327]" "" "pathogenic (dominant)" "" "0000665764" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000022" "g.(14606854_14606885i)nsN[339]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[339]" "" "pathogenic (dominant)" "" "0000665765" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000023" "g.(14606854_14606885i)nsN[354]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[354]" "" "pathogenic (dominant)" "" "0000665766" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000024" "g.(14606854_14606885i)nsN[258]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[258]" "" "pathogenic (dominant)" "" "0000665767" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000025" "g.(14606854_14606885i)nsN[285]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[285]" "" "pathogenic (dominant)" "" "0000665768" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000026" "g.(14606854_14606885i)nsN[276]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[276]" "" "pathogenic (dominant)" "" "0000665769" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000027" "g.(14606854_14606885i)nsN[300]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[300]" "" "pathogenic (dominant)" "" "0000665770" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000028" "g.(14606854_14606885i)nsN[303]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[303]" "" "pathogenic (dominant)" "" "0000665771" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000029" "g.(14606854_14606885i)nsN[186]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[186]" "" "pathogenic (dominant)" "" "0000665772" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000030" "g.(14606854_14606885i)nsN[252]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[252]" "" "pathogenic (dominant)" "" "0000665773" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000031" "g.(14606854_14606885i)nsN[243]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[243]" "" "pathogenic (dominant)" "" "0000665774" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000032" "g.(14606854_14606885i)nsN[351]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[351]" "" "pathogenic (dominant)" "" "0000665775" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000033" "g.(14606854_14606885i)nsN[330]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[330]" "" "pathogenic (dominant)" "" "0000665776" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000034" "g.(14606854_14606885i)nsN[267]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[267]" "" "pathogenic (dominant)" "" "0000665777" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000035" "g.(14606854_14606885i)nsN[213]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[213]" "" "pathogenic (dominant)" "" "0000665778" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000036" "g.(14606854_14606885i)nsN[450]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(14496042_14496073)insN[450]" "" "pathogenic (dominant)" "" "0000665781" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000037" "g.(14606854_14606885i)nsN[459]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[459]" "" "pathogenic (dominant)" "" "0000665782" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000020" "g.(14606854_14606885i)nsN[375]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[375]" "" "pathogenic (dominant)" "" "0000665783" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000038" "g.(14606854_14606885i)nsN[381]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[381]" "" "pathogenic (dominant)" "" "0000665784" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000018" "g.(14606854_14606885i)nsN[312]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[312]" "" "pathogenic (dominant)" "" "0000665785" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000039" "g.(14606854_14606885i)nsN[306]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[306]" "" "pathogenic (dominant)" "" "0000665786" "1" "90" "19" "14606854" "14606885" "ins" "0" "00006" "GIPC1_000040" "g.(14606854_14606885i)nsN[231]" "" "{PMID:Deng 2020:32413282}, {DOI:Deng 2020:10.1016/j.ajhg.2020.04.011}" "" "" "" "Germline" "" "" "0" "" "" "g.(14496042_14496073)insN[231]" "" "pathogenic (dominant)" "" ## 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 GIPC1 ## Count = 48 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000277062" "00025507" "10" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Thr252=)" "" "" "0000277063" "00025507" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Ala284=)" "" "" "0000306599" "00025507" "50" "5419" "0" "5419" "0" "c.*4417G>C" "r.(=)" "p.(=)" "" "" "0000566330" "00025507" "50" "5557" "0" "5557" "0" "c.*4555G>A" "r.(=)" "p.(=)" "" "" "0000665739" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)insN[6]" "r.(?)" "p.(=)" "1" "CGG[13]" "0000665740" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(9)" "r.(?)" "p.(=)" "1" "CGG[14]" "0000665741" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(12)" "r.(?)" "p.(=)" "1" "CGG[15]" "0000665742" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(15)" "r.(?)" "p.(=)" "1" "CGG[16]" "0000665743" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(18)" "r.(?)" "p.(=)" "1" "CGG[17]" "0000665744" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(21)" "r.(?)" "p.(=)" "1" "CGG[18]" "0000665745" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(24)" "r.(?)" "p.(=)" "1" "CGG[19]" "0000665746" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(27)" "r.(?)" "p.(=)" "1" "CGG[20]" "0000665747" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(30)" "r.(?)" "p.(=)" "1" "CGG[21]" "0000665748" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(33)" "r.(?)" "p.(=)" "1" "CGG[22]" "0000665749" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(36)" "r.(?)" "p.(=)" "1" "CGG[23]" "0000665750" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(39)" "r.(?)" "p.(=)" "1" "CGG[24]" "0000665751" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(42)" "r.(?)" "p.(=)" "1" "CGG[25]" "0000665752" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(45)" "r.(?)" "p.(=)" "1" "CGG[26]" "0000665753" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(57)" "r.(?)" "p.(=)" "1" "CGG[30]" "0000665754" "00025507" "10" "-339" "0" "-175" "4" "c.(-339_-175+4)del(60)" "r.(?)" "p.(=)" "1" "CGG[31]" "0000665757" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[318]" "r.(?)" "p.(=)" "1" "CGG[117]" "0000665758" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[312]" "r.(?)" "p.(=)" "1" "CGG[115]" "0000665759" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[291]" "r.(?)" "p.(=)" "1" "CGG[108]" "0000665760" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[375]" "r.(?)" "p.(=)" "1" "CGG[136]" "0000665761" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[318]" "r.(?)" "p.(=)" "1" "CGG[117]" "0000665762" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[291]" "r.(?)" "p.(=)" "1" "CGG[108]" "0000665763" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[327]" "r.(?)" "p.(=)" "1" "CGG[120]" "0000665764" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[339]" "r.(?)" "p.(=)" "1" "CGG[124]" "0000665765" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[354]" "r.(?)" "p.(=)" "1" "CGG[129]" "0000665766" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[258]" "r.(?)" "p.(=)" "1" "CGG[97]" "0000665767" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[285]" "r.(?)" "p.(=)" "1" "CGG[106]" "0000665768" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[276]" "r.(?)" "p.(=)" "1" "CGG[103]" "0000665769" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[300]" "r.(?)" "p.(=)" "1" "CGG[111]" "0000665770" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[303]" "r.(?)" "p.(=)" "1" "CGG[112]" "0000665771" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[186]" "r.(?)" "p.(=)" "1" "CGG[73]" "0000665772" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[252]" "r.(?)" "p.(=)" "1" "CGG[95]" "0000665773" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[243]" "r.(?)" "p.(=)" "1" "CGG[92]" "0000665774" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[351]" "r.(?)" "p.(=)" "1" "CGG[128]" "0000665775" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[330]" "r.(?)" "p.(=)" "1" "CGG[121]" "0000665776" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[267]" "r.(?)" "p.(=)" "1" "CGG[100]" "0000665777" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[213]" "r.(?)" "p.(=)" "1" "CGG[82]" "0000665778" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[450]" "r.(?)" "p.(=)" "1" "CGG[161]" "0000665781" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[459]" "r.(?)" "p.(=)" "1" "CGG[164]" "0000665782" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[375]" "r.(?)" "p.(=)" "1" "CGG[136]" "0000665783" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[381]" "r.(?)" "p.(=)" "1" "CGG[138]" "0000665784" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[312]" "r.(?)" "p.(=)" "1" "CGG[115]" "0000665785" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[306]" "r.(?)" "p.(=)" "1" "CGG[113]" "0000665786" "00025507" "90" "-211" "0" "-180" "0" "c.(-211_-180)insN[231]" "r.(?)" "p.(=)" "1" "CGG[88]" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000302450" "0000665739" "0000302451" "0000665740" "0000302452" "0000665741" "0000302453" "0000665742" "0000302454" "0000665743" "0000302455" "0000665744" "0000302456" "0000665745" "0000302457" "0000665746" "0000302458" "0000665747" "0000302459" "0000665748" "0000302460" "0000665749" "0000302461" "0000665750" "0000302462" "0000665751" "0000302463" "0000665752" "0000302464" "0000665753" "0000302465" "0000665754" "0000302469" "0000665757" "0000302470" "0000665758" "0000302471" "0000665759" "0000302472" "0000665760" "0000302473" "0000665761" "0000302474" "0000665762" "0000302475" "0000665763" "0000302476" "0000665764" "0000302477" "0000665765" "0000302478" "0000665766" "0000302479" "0000665767" "0000302480" "0000665768" "0000302481" "0000665769" "0000302482" "0000665770" "0000302483" "0000665771" "0000302484" "0000665772" "0000302485" "0000665773" "0000302486" "0000665774" "0000302487" "0000665775" "0000302488" "0000665776" "0000302489" "0000665777" "0000302490" "0000665778" "0000302493" "0000665781" "0000302494" "0000665782" "0000302495" "0000665783" "0000302496" "0000665784" "0000302497" "0000665785" "0000302498" "0000665786"