### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = P4HB) # 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}}" "P4HB" "prolyl 4-hydroxylase subunit beta" "17" "q25.3" "unknown" "NG_042033.1" "UD_136089948070" "" "https://www.LOVD.nl/P4HB" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "8548" "5034" "176790" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/P4HB_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 13:05:46" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015568" "P4HB" "prolyl 4-hydroxylase, beta polypeptide" "001" "NM_000918.3" "" "NP_000909.2" "" "" "" "-197" "2381" "1527" "79818544" "79801034" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04602" "CLCRP1" "Cole-Carpenter syndrome, type 1 (CLCRP1)" "AD" "112240" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05398" "CLCRP" "Cole-Carpenter syndrome (CLCRP)" "" "" "" "" "" "00006" "2018-02-23 14:44:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "P4HB" "04602" "P4HB" "05398" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00154403" "" "" "" "1" "" "00006" "{PMID:Balasubramanian 2018:29263160}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "29263160-Pat" "00154404" "" "" "" "1" "" "00006" "{PMID:Rauch 2015:25683117}, {PMID:Cole 1987:3794889}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Canada" "" "0" "" "" "" "25683117-Pat1" "00154405" "" "" "" "1" "" "00006" "{PMID:Rauch 2015:25683117}, {PMID:Cole 1987:3794889}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Canada" "" "0" "" "" "" "25683117-Pat2" "00372771" "" "" "" "1" "" "00085" "{PMID:Ouyang and Yang, 2017:29384951}" "" "" "" "China" "" "0" "" "" "" "" "00372772" "" "" "" "1" "" "00085" "{PMID:Li 2019:30948499}" "The patient is described as having mild OI." "" "" "China" "" "0" "" "" "Han" "" "00372773" "" "" "" "1" "" "00085" "{PMID:Porntaveetus 2018:30063094}" "" "" "" "Thailand" "" "0" "" "" "" "" "00372774" "" "" "" "1" "" "00085" "{PMID:Cao 2019:30913006}" "" "" "" "China" "" "0" "" "" "" "" "00431422" "" "" "" "2" "" "04465" "{PMID:Li 2019:30948499}" "" "F" "no" "China" ">12y" "" "" "" "" "Pat1" "00431423" "" "" "00431422" "1" "" "04465" "{PMID:Li 2019:30948499}" "" "M" "?" "China" ">43y" "" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00154403" "05398" "00154404" "05398" "00154405" "05398" "00372771" "05398" "00372772" "05296" "00372773" "05398" "00372774" "05296" "00431422" "05296" "00431423" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04602, 05296, 05398 ## Count = 9 "{{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}}" "0000127077" "05398" "00154403" "00006" "Isolated (sporadic)" "03y" "see paper; ..." "" "" "" "" "" "" "" "Cole-Carpenter syndrome" "osteogenesis imperfecta" "0000127078" "05398" "00154404" "00006" "Isolated (sporadic)" "" "see papers; ..., craniosynostosis, Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, dentinogenesis imperfecta, normsl hearing, normal vision, 1m-first fracture, final height 120 cm, lumbar spine areal BMD before pamidronate treatment z-score -3.9, lumbar spine areal BMD after pamidronate z-score -2.4, long-bone deformities, scoliosis, vertebral compression fractures, wheelchair bound, normal serum biochemistry (calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone)" "01y" "" "multiple fractures" "" "" "" "" "" "" "0000127079" "05398" "00154405" "00006" "Isolated (sporadic)" "" "see papers; ..., craniosynostosis, no Wormian bones, communicating hydrocephalus, midface hypoplasia, ocular proptosis, cognitive function normal, sclera white, normal teeth, normal hearing, normal vision, 2m-first fracture, final height 97 cm, lumbar spine areal BMD before pamidronate treatment z-score -5.0, lumbar spine areal BMD after pamidronate z-score -4.2, long-bone deformities, scoliosis, vertebral compression fractures, wheelchair bound, normal serum biochemistry (calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone)" "" "" "" "" "" "" "" "" "" "0000268048" "05398" "00372771" "00085" "-" "" "" "" "" "" "" "" "" "" "" "Cole-Carpenter Syndrome" "0000268049" "05296" "00372772" "00085" "-" "" "" "" "" "" "" "" "" "" "" "OI" "0000268050" "05398" "00372773" "00085" "-" "" "" "" "" "" "" "" "" "" "" "Cole-Carpenter Syndrome" "0000268051" "05296" "00372774" "00085" "Unknown" "" "The authors were contacted for further clarification of the OI type. They stated that the patient had some cole-carpenter syndrome but not very typical. The patient had a broad face, mild ocular proptosis, and a flat nasal bridge, whereas blue sclera, a wide-open fontanelle, and a small nose were not observed." "" "" "" "" "" "" "" "" "OI" "0000321994" "05296" "00431422" "04465" "Familial" "12y" "" "" "" "" "" "" "" "" "" "" "0000321995" "05296" "00431423" "04465" "Unknown" "43y" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000155263" "00154403" "1" "00006" "00006" "2018-02-23 14:52:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000155264" "00154404" "1" "00006" "00006" "2018-02-23 15:06:12" "00006" "2018-02-23 15:12:10" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000155265" "00154405" "1" "00006" "00006" "2018-02-23 15:21:42" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000374004" "00372771" "1" "00085" "00085" "2018-08-07 09:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374005" "00372772" "1" "00085" "00085" "2019-08-13 16:22:19" "00085" "2019-08-13 16:38:25" "SEQ" "DNA" "" "" "0000374006" "00372773" "1" "00085" "00085" "2018-08-02 10:20:05" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374007" "00372774" "1" "00085" "00085" "2019-08-16 11:40:58" "00085" "2019-08-23 14:59:02" "SEQ" "DNA" "" "" "0000432837" "00431422" "1" "04465" "04465" "2023-02-13 13:21:15" "04465" "2023-02-13 16:27:21" "SEQ-NG" "DNA" "Peripheral leukocytes" "" "0000432838" "00431423" "1" "04465" "04465" "2023-02-13 13:29:07" "" "" "SEQ-NG" "DNA" "peripheral leukocytes" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000155263" "P4HB" "0000155264" "P4HB" "0000155265" "P4HB" "0000374004" "P4HB" "0000374005" "P4HB" "0000374006" "P4HB" "0000374007" "P4HB" ## 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 = 43 "{{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}}" "0000354933" "0" "90" "17" "79803618" "79803618" "subst" "0" "00006" "P4HB_000001" "g.79803618T>C" "" "{PMID:Balasubramanian 2018:29263160}" "" "" "" "De novo" "" "" "0" "" "" "g.81845742T>C" "" "pathogenic" "" "0000354935" "11" "90" "17" "79803618" "79803618" "subst" "0" "00006" "P4HB_000001" "g.79803618T>C" "" "{PMID:Rauch 2015:25683117}" "" "" "somatic mosaicism in father (0.23 in saliva, not in skin)" "Germline" "" "" "0" "" "" "g.81845742T>C" "" "pathogenic" "" "0000354936" "0" "90" "17" "79803618" "79803618" "subst" "0" "00006" "P4HB_000001" "g.79803618T>C" "" "{PMID:Rauch 2015:25683117}" "" "" "" "De novo" "" "" "0" "" "" "g.81845742T>C" "" "pathogenic" "" "0000563717" "0" "30" "17" "79803438" "79803438" "subst" "0.000244081" "01804" "P4HB_000009" "g.79803438G>A" "" "" "" "P4HB(NM_000918.3):c.1358C>T (p.(Thr453Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81845562G>A" "" "likely benign" "" "0000616929" "0" "30" "17" "79805115" "79805115" "subst" "6.09236E-5" "01804" "P4HB_000006" "g.79805115G>A" "" "" "" "P4HB(NM_000918.3):c.729+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81847239G>A" "" "likely benign" "" "0000623793" "0" "10" "17" "79803101" "79803101" "subst" "0.215715" "02329" "P4HB_000011" "g.79803101A>G" "" "" "" "P4HB(NM_000918.4):c.1365T>C (p.I455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81845225A>G" "" "benign" "" "0000623794" "0" "10" "17" "79803433" "79803433" "subst" "0.155894" "02329" "P4HB_000005" "g.79803433G>A" "" "" "" "P4HB(NM_000918.4):c.1359+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81845557G>A" "" "benign" "" "0000623795" "0" "10" "17" "79805134" "79805134" "subst" "0.157318" "02329" "P4HB_000007" "g.79805134G>A" "" "" "" "P4HB(NM_000918.4):c.714C>T (p.I238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81847258G>A" "" "benign" "" "0000623796" "0" "10" "17" "79818260" "79818260" "subst" "0.159163" "02329" "P4HB_000008" "g.79818260G>T" "" "" "" "P4HB(NM_000918.4):c.88C>A (p.R30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81860384G>T" "" "benign" "" "0000784687" "0" "99" "17" "79803746" "79805224" "del" "0" "00085" "P4HB_000002" "g.(79803619_79803746)_(79805224_79813017)del" "" "{PMID:Ouyang and Yang, 2017:29384951}" "" "c.(?_625)_(1177_?)del" "" "Germline" "" "" "0" "" "" "g.(81845743_81845870)_(81847348_81855141)del" "" "pathogenic" "" "0000784688" "10" "99" "17" "79805156" "79805156" "subst" "0" "00085" "P4HB_000003" "g.79805156T>G" "" "{PMID:Li 2019:30948499}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784689" "0" "99" "17" "79803618" "79803618" "subst" "0" "00085" "P4HB_000001" "g.79803618T>C" "" "{PMID:Porntaveetus 2018:30063094}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784690" "0" "95" "17" "79803598" "79803598" "subst" "0" "00085" "P4HB_000004" "g.79803598A>G" "" "{PMID:Cao 2019:30913006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000808340" "0" "30" "17" "79804497" "79804497" "subst" "0.00022784" "01943" "P4HB_000012" "g.79804497G>A" "" "" "" "P4HB(NM_000918.3):c.864C>T (p.F288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808341" "0" "50" "17" "79813370" "79813371" "del" "0" "01804" "P4HB_000013" "g.79813370_79813371del" "" "" "" "P4HB(NM_000918.3):c.444_445del (p.(Leu149Glyfs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855169" "0" "30" "17" "79817279" "79817279" "del" "0.000505429" "02329" "P4HB_000017" "g.79817279del" "" "" "" "P4HB(NM_000918.4):c.146-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865562" "0" "70" "17" "79803597" "79803597" "subst" "0" "02329" "P4HB_000014" "g.79803597C>T" "" "" "" "P4HB(NM_000918.4):c.1199G>A (p.C400Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865563" "0" "30" "17" "79803766" "79803766" "subst" "0.000447395" "01943" "P4HB_000015" "g.79803766T>C" "" "" "" "P4HB(NM_000918.3):c.1158A>G (p.K386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865564" "0" "50" "17" "79813145" "79813145" "subst" "0.000182746" "01804" "P4HB_000016" "g.79813145G>A" "" "" "" "P4HB(NM_000918.3):c.497C>T (p.(Ser166Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894355" "0" "30" "17" "79805199" "79805199" "subst" "0" "01804" "P4HB_000018" "g.79805199C>T" "" "" "" "P4HB(NM_000918.3):c.649G>A (p.(Glu217Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894356" "0" "50" "17" "79813340" "79813340" "subst" "0" "02327" "P4HB_000019" "g.79813340C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918454" "0" "90" "17" "79805156" "79805156" "subst" "0" "04465" "P4HB_000003" "g.79805156T>G" "" "{PMID:Li 2020:30948499}" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000918462" "11" "90" "17" "79805156" "79805156" "subst" "0" "04465" "P4HB_000003" "g.79805156T>G" "" "{PMID:Li 2019:30948499}" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000926679" "0" "50" "17" "79813331" "79813331" "subst" "1.22852E-5" "02329" "P4HB_000020" "g.79813331T>C" "" "" "" "P4HB(NM_000918.4):c.484A>G (p.K162E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951071" "0" "50" "17" "79803060" "79803060" "subst" "0" "02329" "P4HB_000021" "g.79803060A>C" "" "" "" "P4HB(NM_000918.4):c.1406T>G (p.F469C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969284" "0" "10" "17" "79817106" "79817106" "subst" "0.00272119" "02329" "P4HB_000023" "g.79817106G>A" "" "" "" "P4HB(NM_000918.4):c.303C>T (p.T101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969285" "0" "30" "17" "79818232" "79818232" "subst" "0" "01804" "P4HB_000024" "g.79818232G>T" "" "" "" "P4HB(NM_000918.3):c.116C>A (p.(Ala39Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982902" "0" "50" "17" "79803796" "79803798" "del" "0" "01804" "P4HB_000025" "g.79803796_79803798del" "" "" "" "P4HB(NM_000918.4):c.1126_1128del (p.(Asn376del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982904" "0" "30" "17" "79813688" "79813688" "subst" "0" "02329" "P4HB_000026" "g.79813688G>A" "" "" "" "P4HB(NM_000918.4):c.353-226C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982905" "0" "50" "17" "79818379" "79818379" "subst" "0" "01804" "P4HB_000027" "g.79818379T>A" "" "" "" "P4HB(NM_000918.4):c.-32A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003836" "0" "30" "17" "79801932" "79801932" "subst" "2.84285E-5" "01804" "P4HB_000028" "g.79801932T>C" "" "" "" "P4HB(NM_000918.3):c.1483A>G (p.(Met495Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003837" "0" "30" "17" "79804328" "79804328" "subst" "0.000357919" "02329" "P4HB_000029" "g.79804328G>C" "" "" "" "P4HB(NM_000918.4):c.1033C>G (p.R345G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003838" "0" "30" "17" "79804387" "79804387" "subst" "0" "01804" "P4HB_000030" "g.79804387G>C" "" "" "" "P4HB(NM_000918.3):c.974C>G (p.(Thr325Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003839" "0" "30" "17" "79804414" "79804414" "subst" "1.6247E-5" "01804" "P4HB_000031" "g.79804414C>T" "" "" "" "P4HB(NM_000918.3):c.947G>A (p.(Arg316His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003840" "0" "70" "17" "79817123" "79817123" "subst" "0" "01804" "P4HB_000032" "g.79817123C>T" "" "" "" "P4HB(NM_000918.3):c.286G>A (p.(Val96Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003841" "0" "50" "17" "79817126" "79817126" "subst" "8.12308E-6" "01804" "P4HB_000033" "g.79817126C>T" "" "" "" "P4HB(NM_000918.3):c.283G>A (p.(Gly95Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003842" "0" "30" "17" "79818278" "79818278" "subst" "0" "01804" "P4HB_000034" "g.79818278C>T" "" "" "" "P4HB(NM_000918.3):c.70G>A (p.(Asp24Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003843" "0" "30" "17" "79818341" "79818341" "subst" "0" "01804" "P4HB_000035" "g.79818341G>A" "" "" "" "P4HB(NM_000918.3):c.7C>T (p.(Arg3Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027080" "0" "30" "17" "79805155" "79805155" "subst" "0.000259886" "02329" "P4HB_000036" "g.79805155G>A" "" "" "" "P4HB(NM_000918.4):c.693C>T (p.H231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042280" "0" "30" "17" "79817271" "79817271" "subst" "2.85107E-5" "01804" "P4HB_000037" "g.79817271C>T" "" "" "" "P4HB(NM_000918.4):c.146-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042281" "0" "30" "17" "79818215" "79818215" "subst" "0.000323493" "01804" "P4HB_000038" "g.79818215G>A" "" "" "" "P4HB(NM_000918.4):c.133C>T (p.(Leu45=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056238" "0" "50" "17" "79813124" "79813124" "subst" "0" "01804" "P4HB_000039" "g.79813124A>G" "" "" "" "P4HB(NM_000918.4):c.518T>C (p.(Leu173Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056239" "0" "30" "17" "79813161" "79813161" "subst" "0" "01804" "P4HB_000040" "g.79813161T>C" "" "" "" "P4HB(NM_000918.4):c.487-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes P4HB ## Count = 43 "{{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}}" "0000354933" "00015568" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.spl?" "p.(Tyr393Cys)" "9" "0000354935" "00015568" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.1178a>g" "p.Tyr393Cys" "9" "0000354936" "00015568" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.1178a>g" "p.Tyr393Cys" "9" "0000563717" "00015568" "30" "1358" "0" "1358" "0" "c.1358C>T" "r.(?)" "p.(Thr453Met)" "" "0000616929" "00015568" "30" "729" "4" "729" "4" "c.729+4C>T" "r.spl?" "p.?" "" "0000623793" "00015568" "10" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Ile455=)" "" "0000623794" "00015568" "10" "1359" "4" "1359" "4" "c.1359+4C>T" "r.spl?" "p.?" "" "0000623795" "00015568" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Ile238=)" "" "0000623796" "00015568" "10" "88" "0" "88" "0" "c.88C>A" "r.(?)" "p.(Arg30=)" "" "0000784687" "00015568" "99" "625" "-1" "1177" "1" "c.(624+1_625-1)_(1177+1_1178-1)del" "r.?" "p.?" "4i_8i" "0000784688" "00015568" "99" "692" "0" "692" "0" "c.692A>C" "r.(?)" "p.His231Pro" "5" "0000784689" "00015568" "99" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Tyr393Cys)" "9" "0000784690" "00015568" "95" "1198" "0" "1198" "0" "c.1198T>C" "r.(?)" "p.(Cys400Arg)" "11" "0000808340" "00015568" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Phe288=)" "" "0000808341" "00015568" "50" "444" "0" "445" "0" "c.444_445del" "r.(?)" "p.(Leu149Glyfs*32)" "" "0000855169" "00015568" "30" "146" "-16" "146" "-16" "c.146-16del" "r.(=)" "p.(=)" "" "0000865562" "00015568" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Cys400Tyr)" "" "0000865563" "00015568" "30" "1158" "0" "1158" "0" "c.1158A>G" "r.(?)" "p.(Lys386=)" "" "0000865564" "00015568" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Leu)" "" "0000894355" "00015568" "30" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Glu217Lys)" "" "0000894356" "00015568" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Gly159Ser)" "" "0000918454" "00015568" "90" "692" "0" "692" "0" "c.692A>C" "r.(?)" "p.(His231Pro)" "" "0000918462" "00015568" "90" "692" "0" "692" "0" "c.692A>C" "r.(?)" "p.(His231Pro)" "" "0000926679" "00015568" "50" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Lys162Glu)" "" "0000951071" "00015568" "50" "1406" "0" "1406" "0" "c.1406T>G" "r.(?)" "p.(Phe469Cys)" "" "0000969284" "00015568" "10" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(=)" "" "0000969285" "00015568" "30" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Ala39Glu)" "" "0000982902" "00015568" "50" "1126" "0" "1128" "0" "c.1126_1128del" "r.(?)" "p.(Asn376del)" "" "0000982904" "00015568" "30" "353" "-226" "353" "-226" "c.353-226C>T" "r.(=)" "p.(=)" "" "0000982905" "00015568" "50" "-32" "0" "-32" "0" "c.-32A>T" "r.(?)" "p.(=)" "" "0001003836" "00015568" "30" "1483" "0" "1483" "0" "c.1483A>G" "r.(?)" "p.(Met495Val)" "" "0001003837" "00015568" "30" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Arg345Gly)" "" "0001003838" "00015568" "30" "974" "0" "974" "0" "c.974C>G" "r.(?)" "p.(Thr325Ser)" "" "0001003839" "00015568" "30" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316His)" "" "0001003840" "00015568" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Met)" "" "0001003841" "00015568" "50" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Gly95Ser)" "" "0001003842" "00015568" "30" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Asp24Asn)" "" "0001003843" "00015568" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Cys)" "" "0001027080" "00015568" "30" "693" "0" "693" "0" "c.693C>T" "r.(?)" "p.(=)" "" "0001042280" "00015568" "30" "146" "-8" "146" "-8" "c.146-8G>A" "r.(=)" "p.(=)" "" "0001042281" "00015568" "30" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(=)" "" "0001056238" "00015568" "50" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Leu173Ser)" "" "0001056239" "00015568" "30" "487" "-6" "487" "-6" "c.487-6A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000155263" "0000354933" "0000155264" "0000354935" "0000155265" "0000354936" "0000374004" "0000784687" "0000374005" "0000784688" "0000374006" "0000784689" "0000374007" "0000784690" "0000432837" "0000918462" "0000432838" "0000918454"