### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDGFRB) # 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}}" "PDGFRB" "platelet-derived growth factor receptor, beta polypeptide" "5" "q33.1" "unknown" "NG_023367.1" "UD_132119007720" "" "https://www.LOVD.nl/PDGFRB" "" "1" "8804" "5159" "173410" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PDGFRB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-26 22:02:16" "00000" "2026-01-20 18:57:21" ## 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}}" "00015903" "PDGFRB" "platelet-derived growth factor receptor, beta polypeptide" "001" "NM_002609.3" "" "NP_002600.1" "" "" "" "-469" "5245" "3321" "149535422" "149493402" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "00278" "IBGC4" "calcification, basal ganglia, idiopathic, type 4 (IBGC-4)" "AD" "615007" "" "" "" "00006" "2013-11-22 16:32:29" "00006" "2021-12-10 21:51:32" "01306" "MPE" "Myeloproliferative disorder, chronic, with eosinophilia" "AD" "131440" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01785" "IMF1" "myofibromatosis, infantile, type 1 (IMF-1)" "AD" "228550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04183" "WDRTS" "Wiedemann-Rautenstrauch syndrome" "AR" "264090" "" "" "" "00006" "2015-02-08 17:44:31" "00006" "2023-10-24 16:45:18" "04329" "PENTT" "aging, premature, syndrome, Penttinen type (PENTT)" "AD" "601812" "" "" "" "00006" "2015-09-12 21:58:07" "00006" "2021-12-10 21:51:32" "05222" "KOGS" "Kosaki overgrowth syndrome (KOGS)" "AD" "616592" "" "" "" "00006" "2017-02-10 16:07:08" "00006" "2021-12-10 21:51:32" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PDGFRB" "00278" "PDGFRB" "01306" "PDGFRB" "01785" "PDGFRB" "04329" "PDGFRB" "05222" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00049844" "" "" "" "1" "" "00006" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "M" "no" "China;Indonesia" ">07y" "0" "" "" "" "" "00049845" "" "" "" "1" "" "00006" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "distantly related parents" "F" "?" "Pakistan" ">14y" "0" "" "" "" "" "00049846" "" "" "" "1" "" "00006" "{PMID:Penttinen 1997:9056558}, {PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "M" "" "Finland" ">29y" "0" "" "" "" "" "00049847" "" "" "" "1" "" "00006" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "adopted child" "F" "no" "China;Viet Nam" ">15y" "0" "" "" "" "" "00095920" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "F" "?" "(Belgium)" "" "0" "" "" "" "" "00100306" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2015:25454926}, {DOI:Takenouchi 2015:10.1016/j.jpeds.2014.10.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "" "00100307" "" "" "" "1" "" "00006" "{PMID:Takenouchi 2015:25454926}, {DOI:Takenouchi 2015:10.1016/j.jpeds.2014.10.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Japan" "" "0" "" "" "" "" "00100309" "" "" "" "1" "" "00006" "Takenouchi, IRDiRC 2017" "" "" "no" "Japan" "" "0" "" "" "" "" "00100310" "" "" "" "1" "" "00006" "Takenouchi, IRDiRC 2017" "" "" "no" "Japan" "" "0" "" "" "" "" "00100512" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "F" "" "(Belgium)" "" "0" "" "" "" "" "00100515" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "M" "" "(Belgium)" "" "0" "" "" "" "" "00100520" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "M" "" "(Belgium)" "" "0" "" "" "" "" "00100521" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "M" "" "(Belgium)" "" "0" "" "" "" "" "00100522" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "F" "" "(Belgium)" "" "0" "" "" "" "" "00100524" "" "" "" "1" "" "01878" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "F" "" "(Belgium)" "" "0" "" "" "" "" "00183370" "" "" "" "1" "" "02599" "" "" "F" "" "" "" "0" "" "" "" "" "00213548" "" "" "" "1" "" "00006" "{PMID:Li 2011:21072821}" "" "" "" "" "" "0" "" "" "" "" "00260944" "" "" "" "1" "" "00006" "{PMID:Pond 2018:28726812}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "responded to imatinib" "" "Pat1" "00397345" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00049844" "04329" "00049845" "04329" "00049846" "04329" "00049847" "04329" "00095920" "01785" "00100306" "05222" "00100307" "05222" "00100309" "05222" "00100310" "05222" "00100512" "01785" "00100515" "01785" "00100520" "01785" "00100521" "01785" "00100522" "01785" "00100524" "01785" "00183370" "04183" "00213548" "00198" "00260944" "00198" "00397345" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00278, 01306, 01785, 04183, 04329, 05222, 06886 ## Count = 18 "{{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}}" "0000036618" "04329" "00049844" "00006" "Isolated (sporadic)" "" "see paper; shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, thin calvarium, developmental delay, no hearing loss, posterior fossa cyst, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036619" "04329" "00049845" "00006" "Isolated (sporadic)" "" "see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, no scoliosis, thin calvarium, normal intelligence, no hearing loss, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036620" "04329" "00049846" "00006" "Isolated (sporadic)" "" "see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, microphthalmia, corneal abnormaltiy, , thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers/toes, osteopenia, thin bones, scoliosis, thin calvarium, normal intelligence, bilateral sensorineural hearing loss, mega cisterna magna, hypothyroid, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ..." "" "" "" "" "" "" "" "" "" "" "" "0000036621" "04329" "00049847" "00006" "Isolated (sporadic)" "" "see paper; open fontanelles, shallow orbits, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, wormian bones, normal intelligence, no hearing loss, cortical and cerebellar atrophy, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ..." "" "" "" "" "" "" "" "" "" "" "" "0000078526" "05222" "00100306" "00006" "Isolated (sporadic)" "" "see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration" "" "" "" "" "" "" "" "" "" "" "" "0000078527" "05222" "00100307" "00006" "Isolated (sporadic)" "" "see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration" "" "" "" "" "" "" "" "" "" "" "" "0000078529" "05222" "00100309" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078530" "05222" "00100310" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078732" "01785" "00095920" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078733" "01785" "00100512" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078734" "01785" "00100515" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078735" "01785" "00100520" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078736" "01785" "00100521" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078737" "01785" "00100522" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000078738" "01785" "00100524" "00006" "-" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000144100" "04183" "00183370" "02599" "Isolated (sporadic)" "17y" "acroosteolysis\r\nlipodystrophy" "00y01m" "" "1m" "" "" "" "" "" "" "" "" "0000162002" "00198" "00213548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eukemia, eosinophilic, chronic, pediatric (CEL)" "" "0000199477" "00198" "00260944" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000049765" "00049844" "1" "00006" "00006" "2015-09-13 10:38:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000049766" "00049845" "1" "00006" "00006" "2015-09-13 10:44:38" "" "" "SEQ" "DNA" "" "" "0000049767" "00049846" "1" "00006" "00006" "2015-09-13 11:04:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000049768" "00049847" "1" "00006" "00006" "2015-09-13 11:09:39" "" "" "SEQ" "DNA" "" "" "0000096322" "00095920" "1" "01878" "01878" "2017-01-25 14:48:53" "" "" "SEQ-NG-IT" "DNA" "Left thigh" "" "0000100710" "00100306" "1" "00006" "00006" "2017-02-10 16:11:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100711" "00100307" "1" "00006" "00006" "2017-02-10 16:17:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100713" "00100309" "1" "00006" "00006" "2017-02-10 16:26:02" "" "" "SEQ" "DNA" "" "" "0000100714" "00100310" "1" "00006" "00006" "2017-02-10 16:26:02" "" "" "SEQ" "DNA" "" "" "0000100920" "00100512" "1" "01878" "01878" "2017-03-03 12:18:43" "" "" "SEQ-NG-IT" "DNA" "Left deltoid muscle" "" "0000100921" "00100512" "1" "01878" "01878" "2017-03-03 12:25:25" "" "" "SEQ-NG-IT" "DNA" "Rib" "" "0000100922" "00100512" "1" "01878" "01878" "2017-03-03 14:20:49" "" "" "SEQ-NG-IT" "DNA" "Occipital lesion" "" "0000100927" "00100515" "1" "01878" "01878" "2017-03-03 14:40:34" "" "" "SEQ-NG-IT" "DNA" "Tumor cells" "" "0000100928" "00100515" "1" "01878" "01878" "2017-03-03 14:45:10" "" "" "SEQ-NG-IT" "DNA" "Shoulder" "" "0000100932" "00100515" "1" "01878" "01878" "2017-03-03 15:05:13" "" "" "SEQ-NG-IT" "DNA" "Neck" "" "0000100934" "00100520" "1" "01878" "01878" "2017-03-03 15:13:41" "" "" "SEQ-NG-IT" "DNA" "" "" "0000100935" "00100521" "1" "01878" "01878" "2017-03-03 15:25:44" "" "" "SEQ-NG-IT" "DNA" "Mandibula" "" "0000100936" "00100521" "1" "01878" "01878" "2017-03-03 15:28:02" "" "" "SEQ-NG-IT" "DNA" "Near the mandibular gland" "" "0000100937" "00100521" "1" "01878" "01878" "2017-03-03 15:30:37" "" "" "SEQ-NG-IT" "DNA" "Recurrence of the lesion at the mandibula" "" "0000100938" "00100522" "1" "01878" "01878" "2017-03-03 15:35:01" "" "" "SEQ-NG-IT" "DNA" "" "" "0000100940" "00100524" "1" "01878" "01878" "2017-03-03 15:43:47" "" "" "SEQ-NG-IT" "DNA" "Skull" "" "0000184331" "00183370" "1" "02599" "02599" "2018-10-24 08:13:33" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000214618" "00213548" "1" "00006" "00006" "2012-03-18 14:27:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000262049" "00260944" "1" "00006" "00006" "2019-08-09 15:56:16" "" "" "SEQ" "DNA" "" "WES" "0000398585" "00397345" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000049765" "PDGFRB" "0000049766" "PDGFRB" "0000049767" "PDGFRB" "0000049768" "PDGFRB" "0000096322" "PDGFRB" "0000100710" "PDGFRB" "0000100711" "PDGFRB" "0000100713" "PDGFRB" "0000100714" "PDGFRB" "0000100920" "PDGFRB" "0000100921" "PDGFRB" "0000100922" "PDGFRB" "0000100927" "PDGFRB" "0000100928" "PDGFRB" "0000100932" "PDGFRB" "0000100934" "PDGFRB" "0000100935" "PDGFRB" "0000100936" "PDGFRB" "0000100937" "PDGFRB" "0000100938" "PDGFRB" "0000100940" "PDGFRB" "0000184331" "WEE1" "0000214618" "TPM3" "0000262049" "PDGFRB" ## 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 = 229 "{{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}}" "0000078650" "0" "90" "5" "149503842" "149503842" "subst" "0" "00006" "PDGFRB_000001" "g.149503842A>G" "" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "" "" "De novo" "" "" "0" "" "" "g.150124279A>G" "" "pathogenic" "" "0000078651" "0" "90" "5" "149503842" "149503842" "subst" "0" "00006" "PDGFRB_000001" "g.149503842A>G" "" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "" "" "De novo" "" "" "0" "" "" "g.150124279A>G" "" "pathogenic" "" "0000078652" "0" "90" "5" "149503842" "149503842" "subst" "0" "00006" "PDGFRB_000001" "g.149503842A>G" "" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "" "" "Unknown" "" "" "0" "" "" "g.150124279A>G" "" "pathogenic" "" "0000078653" "0" "90" "5" "149503842" "149503842" "subst" "0" "00006" "PDGFRB_000001" "g.149503842A>G" "" "{PMID:Johnston 2015:26279204}, {DOI:Johnston 2015:10.1016/j.ajhg.2015.07.009}" "" "" "" "Unknown" "" "" "0" "" "" "g.150124279A>G" "" "pathogenic" "" "0000158316" "0" "90" "5" "149500488" "149500488" "subst" "0" "01878" "PDGFRB_000002" "g.149500488T>A" "142/2373 reads (0.06)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "0/2224 reads in blood" "Somatic" "-" "" "0" "" "" "g.150120925T>A" "" "pathogenic" "" "0000163063" "0" "90" "5" "149505064" "149505064" "subst" "0" "00006" "PDGFRB_000003" "g.149505064G>C" "" "{PMID:Takenouchi 2015:25454926}, {DOI:Takenouchi 2015:10.1016/j.jpeds.2014.10.015}, {OMIM173410:0005}" "" "" "" "De novo" "-" "rs863224946" "0" "" "" "g.150125501G>C" "" "pathogenic" "" "0000163064" "0" "90" "5" "149505064" "149505064" "subst" "0" "00006" "PDGFRB_000003" "g.149505064G>C" "" "{PMID:Takenouchi 2015:25454926}, {DOI:Takenouchi 2015:10.1016/j.jpeds.2014.10.015}, {OMIM173410:0005}" "" "" "" "De novo" "" "rs863224946" "0" "" "" "g.150125501G>C" "" "pathogenic" "" "0000163067" "0" "90" "5" "149505119" "149505119" "subst" "0" "00006" "PDGFRB_000004" "g.149505119A>K" "" "Takenouchi, IRDiRC 2017" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.150125556A>K" "" "pathogenic" "" "0000163068" "0" "90" "5" "149505119" "149505119" "subst" "0" "00006" "PDGFRB_000004" "g.149505119A>K" "" "Takenouchi, IRDiRC 2017" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.150125556A>K" "" "pathogenic" "" "0000163324" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000005" "g.149503838G>C" "181/1066 reads (0.17)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>C" "" "pathogenic" "" "0000163325" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000006" "g.149503838G>T" "332/1699 reads (0.20)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>T" "" "pathogenic" "" "0000163326" "0" "90" "5" "149505113" "149505118" "del" "0" "01878" "PDGFRB_000007" "g.149505113_149505118del" "198/3171 reads (0.06)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "1697_1702delGGAAGG" "" "Somatic" "-" "" "0" "" "" "g.150125550_150125555del" "" "pathogenic" "" "0000163329" "0" "90" "5" "149505119" "149505119" "subst" "0" "01878" "PDGFRB_000008" "g.149505119A>G" "371/3748 reads (0.10)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150125556A>G" "" "pathogenic" "" "0000163330" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000006" "g.149503838G>T" "559/2021 reads (0.28)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>T" "" "pathogenic" "" "0000163331" "0" "90" "5" "149505119" "149505119" "subst" "0" "01878" "PDGFRB_000008" "g.149505119A>G" "615/3322 reads (0.19)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150125556A>G" "" "pathogenic" "" "0000163334" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000006" "g.149503838G>T" "433/6320 reads (0.07)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>T" "" "pathogenic" "" "0000163336" "0" "90" "5" "149505119" "149505119" "subst" "0" "01878" "PDGFRB_000008" "g.149505119A>G" "259/2053 reads (0.13)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150125556A>G" "" "pathogenic" "" "0000163338" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000006" "g.149503838G>T" "178/4807 reads (0.04)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>T" "" "pathogenic" "" "0000163339" "0" "90" "5" "149505134" "149505134" "subst" "0" "01878" "PDGFRB_000009" "g.149505134G>A" "2156/4625 reads (0.47)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Germline" "-" "" "0" "" "" "g.150125571G>A" "" "pathogenic" "" "0000163340" "0" "90" "5" "149503838" "149503838" "subst" "0" "01878" "PDGFRB_000006" "g.149503838G>T" "340/6052 reads (0.06)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150124275G>T" "" "pathogenic" "" "0000163341" "0" "90" "5" "149506141" "149506142" "ins" "0" "01878" "PDGFRB_000010" "g.149506141_149506142insATC" "1789/8789 reads (0.20)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150126578_150126579insATC" "" "pathogenic" "" "0000163342" "0" "90" "5" "149506141" "149506142" "ins" "0" "01878" "PDGFRB_000010" "g.149506141_149506142insATC" "231/1548 reads (0.15)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150126578_150126579insATC" "" "pathogenic" "" "0000163343" "0" "90" "5" "149506141" "149506142" "ins" "0" "01878" "PDGFRB_000010" "g.149506141_149506142insATC" "614/2605 reads (0.24)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150126578_150126579insATC" "" "pathogenic" "" "0000163344" "0" "90" "5" "149500488" "149500488" "subst" "0" "01878" "PDGFRB_000002" "g.149500488T>A" "2517/7743 (0.33)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150120925T>A" "" "pathogenic" "" "0000163345" "0" "90" "5" "149506141" "149506142" "ins" "0" "01878" "PDGFRB_000010" "g.149506141_149506142insATC" "710/4980 reads (0.14)" "{DOI:Arts 2017:10.1093/hmg/ddx081}" "" "" "" "Somatic" "-" "" "0" "" "" "g.150126578_150126579insATC" "" "pathogenic" "" "0000250287" "0" "30" "5" "149504330" "149504330" "subst" "0.000327635" "02329" "PDGFRB_000030" "g.149504330A>G" "" "" "" "PDGFRB(NM_002609.4):c.1872T>C (p.H624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150124767A>G" "" "likely benign" "" "0000255966" "0" "50" "5" "149497389" "149497389" "subst" "0" "01943" "PDGFRB_000018" "g.149497389A>G" "" "" "" "PDGFRB(NM_002609.3):c.2929T>C (p.F977L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117826A>G" "" "VUS" "" "0000296861" "0" "10" "5" "149497177" "149497177" "subst" "0.347673" "02325" "PDGFRB_000015" "g.149497177T>C" "" "" "" "PDGFRB(NM_002609.3):c.3137+4A>G, PDGFRB(NM_002609.4):c.3137+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117614T>C" "" "benign" "" "0000296862" "0" "10" "5" "149495395" "149495395" "subst" "0.339853" "02325" "PDGFRB_000013" "g.149495395T>C" "" "" "" "PDGFRB(NM_002609.3):c.3252A>G (p.P1084=), PDGFRB(NM_002609.4):c.3252A>G (p.P1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115832T>C" "" "benign" "" "0000298823" "0" "30" "5" "149515380" "149515380" "subst" "0.0214262" "02329" "PDGFRB_000048" "g.149515380G>A" "" "" "" "PDGFRB(NM_002609.4):c.102C>T (p.(Val34=), p.V34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150135817G>A" "" "likely benign" "" "0000298824" "0" "10" "5" "149512407" "149512407" "subst" "0.00735387" "02329" "PDGFRB_000041" "g.149512407G>A" "" "" "" "PDGFRB(NM_002609.3):c.1033C>T (p.(Pro345Ser)), PDGFRB(NM_002609.4):c.1033C>T (p.P345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150132844G>A" "" "benign" "" "0000298825" "0" "10" "5" "149511636" "149511636" "subst" "0.0078752" "02329" "PDGFRB_000039" "g.149511636C>G" "" "" "" "PDGFRB(NM_002609.3):c.1149G>C (p.L383=), PDGFRB(NM_002609.4):c.1149G>C (p.L383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150132073C>G" "" "benign" "" "0000298826" "0" "30" "5" "149510239" "149510239" "subst" "0" "02329" "PDGFRB_000038" "g.149510239G>A" "" "" "" "PDGFRB(NM_002609.4):c.1244-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150130676G>A" "" "likely benign" "" "0000298827" "0" "30" "5" "149509508" "149509508" "subst" "0.00626641" "02329" "PDGFRB_000037" "g.149509508G>A" "" "" "" "PDGFRB(NM_001355017.2):c.908C>T (p.T303M), PDGFRB(NM_002609.3):c.1391C>T (p.(Thr464Met)), PDGFRB(NM_002609.4):c.1391C>T (p.T464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150129945G>A" "" "likely benign" "" "0000298828" "0" "10" "5" "149509446" "149509446" "subst" "0.0195492" "02329" "PDGFRB_000036" "g.149509446C>T" "" "" "" "PDGFRB(NM_002609.3):c.1453G>A (p.(Glu485Lys)), PDGFRB(NM_002609.4):c.1453G>A (p.E485K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150129883C>T" "" "benign" "" "0000298829" "0" "30" "5" "149509395" "149509395" "subst" "0.00112537" "02329" "PDGFRB_000035" "g.149509395G>A" "" "" "" "PDGFRB(NM_002609.3):c.1504C>T (p.R502W), PDGFRB(NM_002609.4):c.1504C>T (p.(Arg502Trp), p.R502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150129832G>A" "" "likely benign" "" "0000298830" "0" "30" "5" "149509394" "149509394" "subst" "0.00197046" "02329" "PDGFRB_000034" "g.149509394C>T" "" "" "" "PDGFRB(NM_001355017.1):c.1022G>A (p.R341Q), PDGFRB(NM_002609.3):c.1505G>A (p.(Arg502Gln)), PDGFRB(NM_002609.4):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150129831C>T" "" "likely benign" "" "0000298831" "0" "50" "5" "149506103" "149506103" "subst" "2.84356E-5" "02329" "PDGFRB_000033" "g.149506103G>A" "" "" "" "PDGFRB(NM_002609.4):c.1654C>T (p.L552F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150126540G>A" "" "VUS" "" "0000298832" "0" "50" "5" "149505092" "149505092" "subst" "0" "02329" "PDGFRB_000032" "g.149505092C>T" "" "" "" "PDGFRB(NM_002609.4):c.1723G>A (p.D575N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150125529C>T" "" "VUS" "" "0000298833" "0" "10" "5" "149504348" "149504348" "subst" "0.0315704" "02329" "PDGFRB_000031" "g.149504348C>T" "" "" "" "PDGFRB(NM_002609.3):c.1854G>A (p.T618=, p.(Thr618=)), PDGFRB(NM_002609.4):c.1854G>A (p.T618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150124785C>T" "" "benign" "" "0000298834" "0" "30" "5" "149502730" "149502730" "subst" "8.13021E-5" "02329" "PDGFRB_000029" "g.149502730G>A" "" "" "" "PDGFRB(NM_002609.4):c.2058C>T (p.Y686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150123167G>A" "" "likely benign" "" "0000298835" "0" "30" "5" "149502662" "149502662" "subst" "3.65827E-5" "02329" "PDGFRB_000028" "g.149502662C>T" "" "" "" "PDGFRB(NM_002609.3):c.2126G>A (p.(Arg709His)), PDGFRB(NM_002609.4):c.2126G>A (p.R709H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150123099C>T" "" "likely benign" "" "0000298836" "0" "50" "5" "149501461" "149501461" "subst" "2.84303E-5" "02329" "PDGFRB_000026" "g.149501461C>T" "" "" "" "PDGFRB(NM_002609.4):c.2326G>A (p.D776N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150121898C>T" "" "VUS" "" "0000298837" "0" "30" "5" "149500903" "149500903" "subst" "0.000304843" "02329" "PDGFRB_000025" "g.149500903G>A" "" "" "" "PDGFRB(NM_002609.4):c.2345-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150121340G>A" "" "likely benign" "" "0000298838" "0" "30" "5" "149515227" "149515227" "subst" "8.12288E-5" "02329" "PDGFRB_000047" "g.149515227G>A" "" "" "" "PDGFRB(NM_002609.3):c.255C>T (p.L85=), PDGFRB(NM_002609.4):c.255C>T (p.L85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150135664G>A" "" "likely benign" "" "0000298839" "0" "10" "5" "149499672" "149499672" "subst" "0.286061" "02329" "PDGFRB_000022" "g.149499672T>C" "" "" "" "PDGFRB(NM_002609.3):c.2601A>G (p.L867=), PDGFRB(NM_002609.4):c.2601A>G (p.L867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150120109T>C" "" "benign" "" "0000298840" "0" "30" "5" "149515219" "149515219" "subst" "0.000203097" "02329" "PDGFRB_000046" "g.149515219G>A" "" "" "" "PDGFRB(NM_002609.3):c.263C>T (p.T88I), PDGFRB(NM_002609.4):c.263C>T (p.T88I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150135656G>A" "" "likely benign" "" "0000298841" "0" "30" "5" "149498370" "149498370" "subst" "0.00117041" "02329" "PDGFRB_000020" "g.149498370C>T" "" "" "" "PDGFRB(NM_002609.3):c.2844G>A (p.R948=, p.(Arg948=)), PDGFRB(NM_002609.4):c.2844G>A (p.R948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150118807C>T" "" "likely benign" "" "0000298842" "0" "10" "5" "149497228" "149497228" "subst" "0.0764857" "02329" "PDGFRB_000016" "g.149497228G>A" "" "" "" "PDGFRB(NM_002609.3):c.3090C>T (p.P1030=), PDGFRB(NM_002609.4):c.3090C>T (p.P1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117665G>A" "" "benign" "" "0000298843" "0" "10" "5" "149497177" "149497177" "subst" "0.347673" "02329" "PDGFRB_000015" "g.149497177T>C" "" "" "" "PDGFRB(NM_002609.3):c.3137+4A>G, PDGFRB(NM_002609.4):c.3137+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117614T>C" "" "benign" "" "0000298844" "0" "30" "5" "149495482" "149495482" "subst" "0.000107443" "02329" "PDGFRB_000014" "g.149495482G>A" "" "" "" "PDGFRB(NM_002609.4):c.3165C>T (p.S1055=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115919G>A" "" "likely benign" "" "0000298845" "0" "10" "5" "149495395" "149495395" "subst" "0.339853" "02329" "PDGFRB_000013" "g.149495395T>C" "" "" "" "PDGFRB(NM_002609.3):c.3252A>G (p.P1084=), PDGFRB(NM_002609.4):c.3252A>G (p.P1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115832T>C" "" "benign" "" "0000298846" "0" "30" "5" "149515151" "149515151" "subst" "2.45747E-5" "02329" "PDGFRB_000045" "g.149515151C>T" "" "" "" "PDGFRB(NM_002609.3):c.331G>A (p.D111N, p.(Asp111Asn)), PDGFRB(NM_002609.4):c.331G>A (p.D111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150135588C>T" "" "likely benign" "" "0000298847" "0" "10" "5" "149515397" "149515397" "subst" "0.0377319" "02329" "PDGFRB_000049" "g.149515397T>A" "" "" "" "PDGFRB(NM_002609.3):c.85A>T (p.(Ile29Phe)), PDGFRB(NM_002609.4):c.85A>T (p.I29F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150135834T>A" "" "benign" "" "0000305387" "0" "30" "5" "149512411" "149512411" "subst" "5.52237E-5" "01943" "PDGFRB_000042" "g.149512411G>A" "" "" "" "PDGFRB(NM_002609.3):c.1029C>T (p.Y343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150132848G>A" "" "likely benign" "" "0000305388" "0" "30" "5" "149512376" "149512376" "subst" "4.13633E-6" "01943" "PDGFRB_000040" "g.149512376C>T" "" "" "" "PDGFRB(NM_002609.3):c.1064G>A (p.R355H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150132813C>T" "" "likely benign" "" "0000305389" "0" "30" "5" "149511636" "149511636" "subst" "0.0078752" "01943" "PDGFRB_000039" "g.149511636C>G" "" "" "" "PDGFRB(NM_002609.3):c.1149G>C (p.L383=), PDGFRB(NM_002609.4):c.1149G>C (p.L383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150132073C>G" "" "likely benign" "" "0000305390" "0" "10" "5" "149504348" "149504348" "subst" "0.0315704" "01943" "PDGFRB_000031" "g.149504348C>T" "" "" "" "PDGFRB(NM_002609.3):c.1854G>A (p.T618=, p.(Thr618=)), PDGFRB(NM_002609.4):c.1854G>A (p.T618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150124785C>T" "" "benign" "" "0000305391" "0" "50" "5" "149501466" "149501466" "subst" "0" "01943" "PDGFRB_000027" "g.149501466G>C" "" "" "" "PDGFRB(NM_002609.3):c.2321C>G (p.P774R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150121903G>C" "" "VUS" "" "0000305392" "0" "30" "5" "149500571" "149500571" "subst" "0.000134053" "01943" "PDGFRB_000024" "g.149500571G>A" "" "" "" "PDGFRB(NM_002609.3):c.2466C>T (p.C822=), PDGFRB(NM_002609.4):c.2466C>T (p.(Cys822=), p.C822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150121008G>A" "" "likely benign" "" "0000305393" "0" "50" "5" "149500455" "149500455" "subst" "0" "01943" "PDGFRB_000023" "g.149500455C>T" "" "" "" "PDGFRB(NM_002609.3):c.2582G>A (p.G861D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150120892C>T" "" "VUS" "" "0000305394" "0" "10" "5" "149499672" "149499672" "subst" "0.286061" "01943" "PDGFRB_000022" "g.149499672T>C" "" "" "" "PDGFRB(NM_002609.3):c.2601A>G (p.L867=), PDGFRB(NM_002609.4):c.2601A>G (p.L867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150120109T>C" "" "benign" "" "0000305395" "0" "50" "5" "149499072" "149499072" "subst" "0.000121832" "01943" "PDGFRB_000021" "g.149499072C>T" "" "" "" "PDGFRB(NM_002609.3):c.2756G>A (p.R919Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150119509C>T" "" "VUS" "" "0000305396" "0" "30" "5" "149498325" "149498325" "subst" "0.000471273" "01943" "PDGFRB_000019" "g.149498325G>A" "" "" "" "PDGFRB(NM_002609.3):c.2889C>T (p.G963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150118762G>A" "" "likely benign" "" "0000305397" "0" "50" "5" "149497379" "149497379" "subst" "0" "01943" "PDGFRB_000017" "g.149497379C>T" "" "" "" "PDGFRB(NM_002609.3):c.2939G>A (p.S980N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117816C>T" "" "VUS" "" "0000305398" "0" "10" "5" "149497228" "149497228" "subst" "0.0764857" "01943" "PDGFRB_000016" "g.149497228G>A" "" "" "" "PDGFRB(NM_002609.3):c.3090C>T (p.P1030=), PDGFRB(NM_002609.4):c.3090C>T (p.P1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117665G>A" "" "benign" "" "0000305399" "0" "10" "5" "149497177" "149497177" "subst" "0.347673" "01943" "PDGFRB_000015" "g.149497177T>C" "" "" "" "PDGFRB(NM_002609.3):c.3137+4A>G, PDGFRB(NM_002609.4):c.3137+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150117614T>C" "" "benign" "" "0000305400" "0" "10" "5" "149495395" "149495395" "subst" "0.339853" "01943" "PDGFRB_000013" "g.149495395T>C" "" "" "" "PDGFRB(NM_002609.3):c.3252A>G (p.P1084=), PDGFRB(NM_002609.4):c.3252A>G (p.P1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115832T>C" "" "benign" "" "0000305401" "0" "50" "5" "149495355" "149495355" "subst" "1.23692E-5" "01943" "PDGFRB_000011" "g.149495355G>A" "" "" "" "PDGFRB(NM_002609.3):c.3292C>T (p.R1098W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115792G>A" "" "VUS" "" "0000305402" "0" "30" "5" "149514354" "149514354" "subst" "0.000690557" "01943" "PDGFRB_000044" "g.149514354C>T" "" "" "" "PDGFRB(NM_002609.3):c.590G>A (p.R197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150134791C>T" "" "likely benign" "" "0000305403" "0" "30" "5" "149513225" "149513225" "subst" "4.06062E-5" "01943" "PDGFRB_000043" "g.149513225C>T" "" "" "" "PDGFRB(NM_002609.3):c.858G>A (p.S286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150133662C>T" "" "likely benign" "" "0000330674" "0" "30" "5" "149495360" "149495360" "subst" "0.00301785" "01804" "PDGFRB_000012" "g.149495360G>A" "" "" "" "PDGFRB(NM_002609.3):c.3287C>T (p.A1096V, p.(Ala1096Val)), PDGFRB(NM_002609.4):c.3287C>T (p.A1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150115797G>A" "" "likely benign" "" "0000408374" "0" "90" "5" "149503839" "149503839" "subst" "0" "02599" "PDGFRB_000050" "g.149503839T>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.150124276T>C" "" "pathogenic (dominant)" "" "0000447042" "0" "90" "5" "0" "0" "" "0" "00006" "PDGFRB_000051" "g.149507614_qterdelins[NC_000001.10:154138067_pter]" "" "{PMID:Li 2011:21072821}" "" "" "" "Somatic" "" "" "0" "" "t(1;5)(q21.2;q33.1)" "" "" "pathogenic" "" "0000447043" "0" "90" "5" "0" "0" "" "0" "00006" "PDGFRB_000052" "g.[NC_000001.10:154138067_qter]delins149507614_qter" "" "{PMID:Li 2011:21072821}" "" "TPM3-PDGFRB fusion" "" "DUPLICATE record" "" "" "0" "" "t(1;5)(q21.2;q33.1)" "" "" "pathogenic" "" "0000524871" "0" "30" "5" "149495360" "149495360" "subst" "0.00301785" "01943" "PDGFRB_000012" "g.149495360G>A" "" "" "" "PDGFRB(NM_002609.3):c.3287C>T (p.A1096V, p.(Ala1096Val)), PDGFRB(NM_002609.4):c.3287C>T (p.A1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150115797G>A" "" "likely benign" "" "0000524872" "0" "10" "5" "149495360" "149495360" "subst" "0.00301785" "02329" "PDGFRB_000012" "g.149495360G>A" "" "" "" "PDGFRB(NM_002609.3):c.3287C>T (p.A1096V, p.(Ala1096Val)), PDGFRB(NM_002609.4):c.3287C>T (p.A1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150115797G>A" "" "benign" "" "0000524873" "0" "10" "5" "149495395" "149495395" "subst" "0.339853" "02327" "PDGFRB_000013" "g.149495395T>C" "" "" "" "PDGFRB(NM_002609.3):c.3252A>G (p.P1084=), PDGFRB(NM_002609.4):c.3252A>G (p.P1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150115832T>C" "" "benign" "" "0000524874" "0" "10" "5" "149497177" "149497177" "subst" "0.347673" "02327" "PDGFRB_000015" "g.149497177T>C" "" "" "" "PDGFRB(NM_002609.3):c.3137+4A>G, PDGFRB(NM_002609.4):c.3137+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117614T>C" "" "benign" "" "0000524875" "0" "30" "5" "149497216" "149497216" "subst" "7.31636E-5" "01943" "CSF1R_000064" "g.149497216G>A" "" "" "" "PDGFRB(NM_002609.3):c.3102C>T (p.D1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117653G>A" "" "likely benign" "" "0000524876" "0" "10" "5" "149497228" "149497228" "subst" "0.0764857" "02327" "PDGFRB_000016" "g.149497228G>A" "" "" "" "PDGFRB(NM_002609.3):c.3090C>T (p.P1030=), PDGFRB(NM_002609.4):c.3090C>T (p.P1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117665G>A" "" "benign" "" "0000524877" "0" "30" "5" "149497243" "149497243" "subst" "0" "02329" "CSF1R_000065" "g.149497243C>A" "" "" "" "PDGFRB(NM_002609.4):c.3075G>T (p.L1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117680C>A" "" "likely benign" "" "0000524878" "0" "30" "5" "149497285" "149497285" "subst" "4.4678E-5" "02329" "CSF1R_000066" "g.149497285G>A" "" "" "" "PDGFRB(NM_002609.4):c.3033C>T (p.A1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117722G>A" "" "likely benign" "" "0000524879" "0" "30" "5" "149497321" "149497321" "subst" "2.03141E-5" "01943" "CSF1R_000067" "g.149497321T>A" "" "" "" "PDGFRB(NM_002609.3):c.2997A>T (p.R999=), PDGFRB(NM_002609.4):c.2997A>T (p.R999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117758T>A" "" "likely benign" "" "0000524880" "0" "30" "5" "149497321" "149497321" "subst" "2.03141E-5" "02329" "CSF1R_000067" "g.149497321T>A" "" "" "" "PDGFRB(NM_002609.3):c.2997A>T (p.R999=), PDGFRB(NM_002609.4):c.2997A>T (p.R999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117758T>A" "" "likely benign" "" "0000524881" "0" "50" "5" "149497358" "149497358" "subst" "0.000272784" "01943" "CSF1R_000068" "g.149497358C>T" "" "" "" "PDGFRB(NM_002609.3):c.2960G>A (p.R987Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117795C>T" "" "VUS" "" "0000524882" "0" "30" "5" "149498295" "149498295" "subst" "0.000243821" "02329" "PDGFRB_000053" "g.149498295C>T" "" "" "" "PDGFRB(NM_002609.4):c.2904+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150118732C>T" "" "likely benign" "" "0000524883" "0" "30" "5" "149498370" "149498370" "subst" "0.00117041" "01943" "PDGFRB_000020" "g.149498370C>T" "" "" "" "PDGFRB(NM_002609.3):c.2844G>A (p.R948=, p.(Arg948=)), PDGFRB(NM_002609.4):c.2844G>A (p.R948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150118807C>T" "" "likely benign" "" "0000524884" "0" "50" "5" "149499046" "149499046" "subst" "0" "01943" "PDGFRB_000054" "g.149499046G>A" "" "" "" "PDGFRB(NM_002609.3):c.2782C>T (p.H928Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150119483G>A" "" "VUS" "" "0000524885" "0" "30" "5" "149499618" "149499618" "subst" "0.000503561" "02329" "PDGFRB_000055" "g.149499618G>A" "" "" "" "PDGFRB(NM_002609.4):c.2655C>T (p.D885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150120055G>A" "" "likely benign" "" "0000524886" "0" "30" "5" "149499630" "149499630" "subst" "2.84269E-5" "01943" "PDGFRB_000056" "g.149499630G>A" "" "" "" "PDGFRB(NM_002609.3):c.2643C>T (p.T881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150120067G>A" "" "likely benign" "" "0000524887" "0" "10" "5" "149499672" "149499672" "subst" "0.286061" "02327" "PDGFRB_000022" "g.149499672T>C" "" "" "" "PDGFRB(NM_002609.3):c.2601A>G (p.L867=), PDGFRB(NM_002609.4):c.2601A>G (p.L867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150120109T>C" "" "benign" "" "0000524888" "0" "30" "5" "149500514" "149500514" "subst" "0.00311467" "01943" "PDGFRB_000057" "g.149500514C>T" "" "" "" "PDGFRB(NM_002609.3):c.2523G>A (p.K841=, p.(Lys841=)), PDGFRB(NM_002609.4):c.2523G>A (p.K841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150120951C>T" "" "likely benign" "" "0000524889" "0" "30" "5" "149500514" "149500514" "subst" "0.00311467" "02329" "PDGFRB_000057" "g.149500514C>T" "" "" "" "PDGFRB(NM_002609.3):c.2523G>A (p.K841=, p.(Lys841=)), PDGFRB(NM_002609.4):c.2523G>A (p.K841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150120951C>T" "" "likely benign" "" "0000524890" "0" "30" "5" "149500571" "149500571" "subst" "0.000134053" "02329" "PDGFRB_000024" "g.149500571G>A" "" "" "" "PDGFRB(NM_002609.3):c.2466C>T (p.C822=), PDGFRB(NM_002609.4):c.2466C>T (p.(Cys822=), p.C822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150121008G>A" "" "likely benign" "" "0000524891" "0" "10" "5" "149504348" "149504348" "subst" "0.0315704" "02327" "PDGFRB_000031" "g.149504348C>T" "" "" "" "PDGFRB(NM_002609.3):c.1854G>A (p.T618=, p.(Thr618=)), PDGFRB(NM_002609.4):c.1854G>A (p.T618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150124785C>T" "" "benign" "" "0000524892" "0" "90" "5" "149505134" "149505134" "subst" "0" "02327" "PDGFRB_000009" "g.149505134G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150125571G>A" "" "pathogenic" "" "0000524893" "0" "30" "5" "149509345" "149509345" "subst" "4.07797E-6" "01943" "PDGFRB_000058" "g.149509345C>T" "" "" "" "PDGFRB(NM_002609.3):c.1554G>A (p.T518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129782C>T" "" "likely benign" "" "0000524894" "0" "30" "5" "149509394" "149509394" "subst" "0.00197046" "01943" "PDGFRB_000034" "g.149509394C>T" "" "" "" "PDGFRB(NM_001355017.1):c.1022G>A (p.R341Q), PDGFRB(NM_002609.3):c.1505G>A (p.(Arg502Gln)), PDGFRB(NM_002609.4):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129831C>T" "" "likely benign" "" "0000524895" "0" "30" "5" "149509394" "149509394" "subst" "0.00197046" "01804" "PDGFRB_000034" "g.149509394C>T" "" "" "" "PDGFRB(NM_001355017.1):c.1022G>A (p.R341Q), PDGFRB(NM_002609.3):c.1505G>A (p.(Arg502Gln)), PDGFRB(NM_002609.4):c.1505G>A (p.R502Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129831C>T" "" "likely benign" "" "0000524896" "0" "50" "5" "149509395" "149509395" "subst" "0.00112537" "01943" "PDGFRB_000035" "g.149509395G>A" "" "" "" "PDGFRB(NM_002609.3):c.1504C>T (p.R502W), PDGFRB(NM_002609.4):c.1504C>T (p.(Arg502Trp), p.R502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129832G>A" "" "VUS" "" "0000524897" "0" "30" "5" "149509426" "149509426" "subst" "0" "01943" "PDGFRB_000059" "g.149509426C>T" "" "" "" "PDGFRB(NM_002609.3):c.1473G>A (p.V491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129863C>T" "" "likely benign" "" "0000524898" "0" "10" "5" "149509446" "149509446" "subst" "0.0195492" "01804" "PDGFRB_000036" "g.149509446C>T" "" "" "" "PDGFRB(NM_002609.3):c.1453G>A (p.(Glu485Lys)), PDGFRB(NM_002609.4):c.1453G>A (p.E485K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129883C>T" "" "benign" "" "0000524899" "0" "30" "5" "149509462" "149509462" "subst" "0.000125884" "01943" "PDGFRB_000060" "g.149509462G>A" "" "" "" "PDGFRB(NM_002609.3):c.1437C>T (p.N479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129899G>A" "" "likely benign" "" "0000524900" "0" "30" "5" "149509506" "149509506" "subst" "0.00209667" "02329" "PDGFRB_000061" "g.149509506G>A" "" "" "" "PDGFRB(NM_002609.4):c.1393C>T (p.L465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129943G>A" "" "likely benign" "" "0000524901" "0" "30" "5" "149509508" "149509508" "subst" "0.00626641" "01804" "PDGFRB_000037" "g.149509508G>A" "" "" "" "PDGFRB(NM_001355017.2):c.908C>T (p.T303M), PDGFRB(NM_002609.3):c.1391C>T (p.(Thr464Met)), PDGFRB(NM_002609.4):c.1391C>T (p.T464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129945G>A" "" "likely benign" "" "0000524902" "0" "30" "5" "149509523" "149509523" "subst" "0.00210364" "02329" "PDGFRB_000062" "g.149509523C>T" "" "" "" "PDGFRB(NM_002609.4):c.1376G>A (p.R459H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129960C>T" "" "likely benign" "" "0000524906" "0" "10" "5" "149511636" "149511636" "subst" "0.0078752" "02327" "PDGFRB_000039" "g.149511636C>G" "" "" "" "PDGFRB(NM_002609.3):c.1149G>C (p.L383=), PDGFRB(NM_002609.4):c.1149G>C (p.L383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132073C>G" "" "benign" "" "0000524907" "0" "30" "5" "149512332" "149512332" "subst" "0.000597071" "01804" "PDGFRB_000066" "g.149512332G>A" "" "" "" "PDGFRB(NM_002609.3):c.1108C>T (p.(Arg370Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132769G>A" "" "likely benign" "" "0000524908" "0" "50" "5" "149512376" "149512376" "subst" "4.13633E-6" "02327" "PDGFRB_000040" "g.149512376C>T" "" "" "" "PDGFRB(NM_002609.3):c.1064G>A (p.R355H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132813C>T" "" "VUS" "" "0000524909" "0" "30" "5" "149512469" "149512469" "subst" "3.68545E-5" "01804" "PDGFRB_000067" "g.149512469G>A" "" "" "" "PDGFRB(NM_002609.3):c.971C>T (p.(Thr324Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132906G>A" "" "likely benign" "" "0000524910" "0" "50" "5" "149512490" "149512490" "subst" "0" "02327" "PDGFRB_000068" "g.149512490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132927C>T" "" "VUS" "" "0000524911" "0" "30" "5" "149512494" "149512494" "subst" "0.00327816" "01943" "PDGFRB_000069" "g.149512494C>T" "" "" "" "PDGFRB(NM_002609.3):c.946G>A (p.V316M, p.(Val316Met)), PDGFRB(NM_002609.4):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132931C>T" "" "likely benign" "" "0000524912" "0" "30" "5" "149512494" "149512494" "subst" "0.00327816" "01804" "PDGFRB_000069" "g.149512494C>T" "" "" "" "PDGFRB(NM_002609.3):c.946G>A (p.V316M, p.(Val316Met)), PDGFRB(NM_002609.4):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132931C>T" "" "likely benign" "" "0000524913" "0" "30" "5" "149512494" "149512494" "subst" "0.00327816" "02329" "PDGFRB_000069" "g.149512494C>T" "" "" "" "PDGFRB(NM_002609.3):c.946G>A (p.V316M, p.(Val316Met)), PDGFRB(NM_002609.4):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150132931C>T" "" "likely benign" "" "0000524914" "0" "30" "5" "149513184" "149513184" "subst" "4.06091E-6" "01804" "PDGFRB_000070" "g.149513184T>C" "" "" "" "PDGFRB(NM_002609.3):c.899A>G (p.(His300Arg)), PDGFRB(NM_002609.4):c.899A>G (p.H300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150133621T>C" "" "likely benign" "" "0000524915" "0" "30" "5" "149513184" "149513184" "subst" "4.06091E-6" "02329" "PDGFRB_000070" "g.149513184T>C" "" "" "" "PDGFRB(NM_002609.3):c.899A>G (p.(His300Arg)), PDGFRB(NM_002609.4):c.899A>G (p.H300R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150133621T>C" "" "likely benign" "" "0000524916" "0" "30" "5" "149513438" "149513438" "subst" "0" "01943" "PDGFRB_000071" "g.149513438C>A" "" "" "" "PDGFRB(NM_002609.3):c.759+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150133875C>A" "" "likely benign" "" "0000524917" "0" "50" "5" "149514363" "149514363" "subst" "0.00116547" "01943" "PDGFRB_000072" "g.149514363A>G" "" "" "" "PDGFRB(NM_002609.3):c.581T>C (p.I194T, p.(Ile194Thr)), PDGFRB(NM_002609.4):c.581T>C (p.I194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150134800A>G" "" "VUS" "" "0000524918" "0" "30" "5" "149514363" "149514363" "subst" "0.00116547" "02329" "PDGFRB_000072" "g.149514363A>G" "" "" "" "PDGFRB(NM_002609.3):c.581T>C (p.I194T, p.(Ile194Thr)), PDGFRB(NM_002609.4):c.581T>C (p.I194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150134800A>G" "" "likely benign" "" "0000524919" "0" "30" "5" "149514583" "149514583" "subst" "0.00139615" "01804" "PDGFRB_000073" "g.149514583C>A" "" "" "" "PDGFRB(NM_002609.3):c.365-4G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150135020C>A" "" "likely benign" "" "0000524920" "0" "30" "5" "149515219" "149515219" "subst" "0.000203097" "01943" "PDGFRB_000046" "g.149515219G>A" "" "" "" "PDGFRB(NM_002609.3):c.263C>T (p.T88I), PDGFRB(NM_002609.4):c.263C>T (p.T88I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150135656G>A" "" "likely benign" "" "0000524921" "0" "30" "5" "149515270" "149515270" "subst" "2.43752E-5" "02329" "PDGFRB_000074" "g.149515270T>C" "" "" "" "PDGFRB(NM_002609.4):c.212A>G (p.Q71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150135707T>C" "" "likely benign" "" "0000524922" "0" "30" "5" "149515397" "149515397" "subst" "0.0377319" "01804" "PDGFRB_000049" "g.149515397T>A" "" "" "" "PDGFRB(NM_002609.3):c.85A>T (p.(Ile29Phe)), PDGFRB(NM_002609.4):c.85A>T (p.I29F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150135834T>A" "" "likely benign" "" "0000592184" "0" "90" "5" "149503840" "149503840" "subst" "0" "00006" "PDGFRB_000075" "g.149503840T>G" "" "{PMID:Pond 2018:28726812}" "" "N666H" "" "De novo" "" "" "0" "" "" "g.150124277T>G" "" "pathogenic (dominant)" "" "0000609577" "0" "30" "5" "149495401" "149495401" "subst" "1.65003E-5" "01943" "CSF1R_000071" "g.149495401C>T" "" "" "" "PDGFRB(NM_002609.3):c.3246G>A (p.P1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150115838C>T" "" "likely benign" "" "0000609578" "0" "50" "5" "149501592" "149501592" "subst" "4.87741E-5" "01943" "PDGFRB_000076" "g.149501592A>C" "" "" "" "PDGFRB(NM_002609.3):c.2195T>G (p.L732W, p.(Leu732Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150122029A>C" "" "VUS" "" "0000609579" "0" "10" "5" "149505054" "149505054" "subst" "0.00211708" "02329" "PDGFRB_000077" "g.149505054C>T" "" "" "" "PDGFRB(NM_002609.4):c.1761G>A (p.(Leu587=), p.L587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150125491C>T" "" "benign" "" "0000609580" "0" "30" "5" "149509310" "149509310" "subst" "0.0005454" "02329" "PDGFRB_000078" "g.149509310G>A" "" "" "" "PDGFRB(NM_002609.4):c.1579+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129747G>A" "" "likely benign" "" "0000609581" "0" "30" "5" "149509531" "149509531" "subst" "0" "01804" "PDGFRB_000079" "g.149509531C>T" "" "" "" "PDGFRB(NM_002609.3):c.1368G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129968C>T" "" "likely benign" "" "0000609582" "0" "30" "5" "149510087" "149510087" "subst" "8.18049E-6" "02329" "PDGFRB_000080" "g.149510087C>T" "" "" "" "PDGFRB(NM_002609.4):c.1367+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150130524C>T" "" "likely benign" "" "0000609584" "0" "50" "5" "149514496" "149514496" "subst" "0" "02327" "PDGFRB_000083" "g.149514496G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150134933G>A" "" "VUS" "" "0000609585" "0" "30" "5" "149515227" "149515227" "subst" "8.12288E-5" "01943" "PDGFRB_000047" "g.149515227G>A" "" "" "" "PDGFRB(NM_002609.3):c.255C>T (p.L85=), PDGFRB(NM_002609.4):c.255C>T (p.L85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150135664G>A" "" "likely benign" "" "0000609586" "0" "30" "5" "149516621" "149516621" "subst" "2.04839E-5" "01804" "PDGFRB_000085" "g.149516621A>G" "" "" "" "PDGFRB(NM_002609.3):c.-6-5T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150137058A>G" "" "likely benign" "" "0000609587" "0" "10" "5" "149535255" "149535255" "subst" "0" "02327" "PDGFRB_000086" "g.149535255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150155692G>A" "" "benign" "" "0000621511" "0" "30" "5" "149513239" "149513239" "subst" "4.46682E-5" "02329" "PDGFRB_000082" "g.149513239C>T" "" "" "" "PDGFRB(NM_002609.3):c.844G>A (p.(Glu282Lys)), PDGFRB(NM_002609.4):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150133676C>T" "" "likely benign" "" "0000621512" "0" "30" "5" "149516594" "149516594" "subst" "0.000224115" "02329" "PDGFRB_000084" "g.149516594G>A" "" "" "" "PDGFRB(NM_002609.4):c.17C>T (p.A6V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150137031G>A" "" "likely benign" "" "0000655332" "0" "70" "5" "149497421" "149497421" "subst" "0" "02327" "CSF1R_000072" "g.149497421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150117858C>T" "" "likely pathogenic" "" "0000655334" "0" "30" "5" "149509447" "149509447" "subst" "6.49725E-5" "01943" "PDGFRB_000087" "g.149509447C>T" "" "" "" "PDGFRB(NM_001355017.1):c.969G>A (p.E323=), PDGFRB(NM_002609.4):c.1452G>A (p.(Glu484=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150129884C>T" "" "likely benign" "" "0000655335" "0" "30" "5" "149514363" "149514363" "subst" "0.00116547" "01804" "PDGFRB_000072" "g.149514363A>G" "" "" "" "PDGFRB(NM_002609.3):c.581T>C (p.I194T, p.(Ile194Thr)), PDGFRB(NM_002609.4):c.581T>C (p.I194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150134800A>G" "" "likely benign" "" "0000677437" "0" "70" "5" "149505119" "149505119" "subst" "0" "01943" "PDGFRB_000008" "g.149505119A>G" "" "" "" "PDGFRB(NM_001355017.1):c.1213T>C (p.W405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677438" "0" "50" "5" "149509325" "149509325" "subst" "0" "02327" "PDGFRB_000088" "g.149509325G>A" "" "" "" "PDGFRB(NM_001355017.2):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677439" "0" "50" "5" "149512334" "149512334" "subst" "3.70605E-5" "01943" "PDGFRB_000089" "g.149512334G>A" "" "" "" "PDGFRB(NM_001355017.1):c.623C>T (p.T208M), PDGFRB(NM_002609.3):c.1106C>T (p.(Thr369Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689465" "0" "50" "5" "149514403" "149514403" "subst" "7.30911E-5" "01943" "PDGFRB_000090" "g.149514403C>T" "" "" "" "PDGFRB(NM_002609.3):c.541G>A (p.G181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720274" "0" "30" "5" "149495360" "149495360" "subst" "0.00301785" "02330" "PDGFRB_000012" "g.149495360G>A" "" "" "" "PDGFRB(NM_002609.3):c.3287C>T (p.A1096V, p.(Ala1096Val)), PDGFRB(NM_002609.4):c.3287C>T (p.A1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720275" "0" "30" "5" "149495377" "149495377" "subst" "0.000226252" "01943" "CSF1R_000080" "g.149495377C>T" "" "" "" "PDGFRB(NM_001355017.1):c.2787G>A (p.P929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720276" "0" "50" "5" "149499658" "149499658" "subst" "0" "01943" "PDGFRB_000091" "g.149499658G>A" "" "" "" "PDGFRB(NM_001355017.1):c.2132C>T (p.P711L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720277" "0" "50" "5" "149500570" "149500570" "subst" "3.65586E-5" "02327" "PDGFRB_000092" "g.149500570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720278" "0" "30" "5" "149500576" "149500576" "subst" "6.0935E-5" "01943" "PDGFRB_000093" "g.149500576G>A" "" "" "" "PDGFRB(NM_001355017.1):c.1981-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720279" "0" "50" "5" "149509325" "149509325" "subst" "0" "02329" "PDGFRB_000088" "g.149509325G>A" "" "" "" "PDGFRB(NM_001355017.2):c.1091C>T (p.P364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720280" "0" "30" "5" "149511538" "149511538" "subst" "0.000758843" "01804" "PDGFRB_000094" "g.149511538T>A" "" "" "" "PDGFRB(NM_002609.3):c.1243+4A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720281" "0" "30" "5" "149513489" "149513489" "subst" "0.000637569" "01943" "PDGFRB_000095" "g.149513489G>A" "" "" "" "PDGFRB(NM_001355017.1):c.231C>T (p.I77=), PDGFRB(NM_002609.3):c.714C>T (p.(Ile238=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720282" "0" "50" "5" "149516600" "149516600" "subst" "6.51917E-5" "02329" "PDGFRB_000096" "g.149516600G>T" "" "" "" "PDGFRB(NM_002609.4):c.11C>A (p.P4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720283" "0" "30" "5" "149516631" "149516631" "subst" "0.00038783" "02329" "PDGFRB_000097" "g.149516631A>G" "" "" "" "PDGFRB(NM_002609.4):c.-6-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801964" "0" "30" "5" "149512495" "149512495" "subst" "0.000521305" "01943" "PDGFRB_000098" "g.149512495G>A" "" "" "" "PDGFRB(NM_001355017.1):c.462C>T (p.Y154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000830799" "0" "50" "5" "149514403" "149514403" "subst" "7.30911E-5" "00006" "PDGFRB_000090" "g.149514403C>T" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.150134840C>T" "" "VUS" "" "0000850837" "0" "50" "5" "149499081" "149499081" "subst" "0" "01943" "PDGFRB_000099" "g.149499081G>A" "" "" "" "PDGFRB(NM_001355017.1):c.2264C>T (p.A755V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850838" "0" "50" "5" "149511562" "149511562" "subst" "0.000638679" "01943" "PDGFRB_000064" "g.149511562G>C" "" "" "" "PDGFRB(NM_001355017.1):c.740C>G (p.S247C), PDGFRB(NM_002609.3):c.1223C>G (p.(Ser408Cys)), PDGFRB(NM_002609.4):c.1223C>G (p.S408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850839" "0" "30" "5" "149514363" "149514363" "subst" "0.00116547" "02326" "PDGFRB_000072" "g.149514363A>G" "" "" "" "PDGFRB(NM_002609.3):c.581T>C (p.I194T, p.(Ile194Thr)), PDGFRB(NM_002609.4):c.581T>C (p.I194T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850840" "0" "30" "5" "149515151" "149515151" "subst" "2.45747E-5" "01943" "PDGFRB_000045" "g.149515151C>T" "" "" "" "PDGFRB(NM_002609.3):c.331G>A (p.D111N, p.(Asp111Asn)), PDGFRB(NM_002609.4):c.331G>A (p.D111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850841" "0" "30" "5" "149516607" "149516607" "subst" "4.48939E-5" "01943" "PDGFRB_000102" "g.149516607G>A" "" "" "" "PDGFRB(NM_002609.3):c.4C>T (p.R2W), PDGFRB(NM_002609.4):c.4C>T (p.(Arg2Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859826" "0" "30" "5" "149497199" "149497199" "subst" "0.00148682" "01804" "CSF1R_000082" "g.149497199C>A" "" "" "" "PDGFRB(NM_002609.3):c.3119G>T (p.(Gly1040Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859827" "0" "30" "5" "149498370" "149498370" "subst" "0.00117041" "01804" "PDGFRB_000020" "g.149498370C>T" "" "" "" "PDGFRB(NM_002609.3):c.2844G>A (p.R948=, p.(Arg948=)), PDGFRB(NM_002609.4):c.2844G>A (p.R948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859828" "0" "30" "5" "149500514" "149500514" "subst" "0.00311467" "01804" "PDGFRB_000057" "g.149500514C>T" "" "" "" "PDGFRB(NM_002609.3):c.2523G>A (p.K841=, p.(Lys841=)), PDGFRB(NM_002609.4):c.2523G>A (p.K841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859829" "0" "50" "5" "149501579" "149501579" "subst" "2.03151E-5" "01943" "PDGFRB_000100" "g.149501579G>T" "" "" "" "PDGFRB(NM_001355017.1):c.1725C>A (p.S575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859830" "0" "30" "5" "149501606" "149501606" "subst" "0" "01804" "PDGFRB_000101" "g.149501606G>A" "" "" "" "PDGFRB(NM_002609.3):c.2184-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859831" "0" "10" "5" "149504348" "149504348" "subst" "0.0315704" "01804" "PDGFRB_000031" "g.149504348C>T" "" "" "" "PDGFRB(NM_002609.3):c.1854G>A (p.T618=, p.(Thr618=)), PDGFRB(NM_002609.4):c.1854G>A (p.T618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859832" "0" "30" "5" "149512407" "149512407" "subst" "0.00735387" "01804" "PDGFRB_000041" "g.149512407G>A" "" "" "" "PDGFRB(NM_002609.3):c.1033C>T (p.(Pro345Ser)), PDGFRB(NM_002609.4):c.1033C>T (p.P345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859833" "0" "10" "5" "149513489" "149513489" "subst" "0.000637569" "01804" "PDGFRB_000095" "g.149513489G>A" "" "" "" "PDGFRB(NM_001355017.1):c.231C>T (p.I77=), PDGFRB(NM_002609.3):c.714C>T (p.(Ile238=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886691" "0" "30" "5" "149502662" "149502662" "subst" "3.65827E-5" "02325" "PDGFRB_000028" "g.149502662C>T" "" "" "" "PDGFRB(NM_002609.3):c.2126G>A (p.(Arg709His)), PDGFRB(NM_002609.4):c.2126G>A (p.R709H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886692" "0" "30" "5" "149504398" "149504398" "subst" "0" "02325" "PDGFRB_000103" "g.149504398G>T" "" "" "" "PDGFRB(NM_002609.4):c.1808-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886693" "0" "50" "5" "149511629" "149511629" "subst" "4.06934E-6" "02327" "PDGFRB_000065" "g.149511629C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912264" "0" "50" "5" "149514414" "149514414" "subst" "4.06065E-6" "02327" "PDGFRB_000104" "g.149514414C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924281" "0" "30" "5" "149497299" "149497299" "subst" "5.68643E-5" "02325" "CSF1R_000087" "g.149497299C>T" "" "" "" "PDGFRB(NM_002609.4):c.3019G>A (p.V1007I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948510" "0" "50" "5" "149503861" "149503861" "subst" "0" "02325" "PDGFRB_000105" "g.149503861C>T" "" "" "" "PDGFRB(NM_002609.4):c.1975G>A (p.G659R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948511" "0" "30" "5" "149511562" "149511562" "subst" "0.000638679" "02325" "PDGFRB_000064" "g.149511562G>C" "" "" "" "PDGFRB(NM_001355017.1):c.740C>G (p.S247C), PDGFRB(NM_002609.3):c.1223C>G (p.(Ser408Cys)), PDGFRB(NM_002609.4):c.1223C>G (p.S408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948512" "0" "30" "5" "149513239" "149513239" "subst" "4.46682E-5" "02325" "PDGFRB_000082" "g.149513239C>T" "" "" "" "PDGFRB(NM_002609.3):c.844G>A (p.(Glu282Lys)), PDGFRB(NM_002609.4):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976652" "0" "30" "5" "149495443" "149495443" "subst" "0.000243619" "01804" "CSF1R_000091" "g.149495443G>A" "" "" "" "PDGFRB(NM_002609.3):c.3204C>T (p.(Asp1068=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976653" "0" "30" "5" "149497112" "149497113" "ins" "0" "01804" "CSF1R_000092" "g.149497112_149497113insGCGC" "" "" "" "PDGFRB(NM_002609.4):c.3137+69_3137+70insCGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976654" "0" "30" "5" "149497347" "149497347" "subst" "7.72508E-5" "01804" "CSF1R_000093" "g.149497347G>A" "" "" "" "PDGFRB(NM_002609.3):c.2971C>T (p.(Arg991Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976655" "0" "50" "5" "149497415" "149497415" "subst" "0" "01804" "CSF1R_000094" "g.149497415T>G" "" "" "" "CSF1R(NM_005211.3):c.-4772A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976656" "0" "30" "5" "149499123" "149499123" "subst" "7.72144E-5" "01804" "PDGFRB_000106" "g.149499123G>A" "" "" "" "PDGFRB(NM_002609.4):c.2705C>T (p.(Thr902Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976657" "0" "30" "5" "149501592" "149501592" "subst" "4.87741E-5" "01804" "PDGFRB_000076" "g.149501592A>C" "" "" "" "PDGFRB(NM_002609.3):c.2195T>G (p.L732W, p.(Leu732Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976658" "0" "30" "5" "149503807" "149503807" "subst" "2.4564E-5" "01804" "PDGFRB_000107" "g.149503807C>T" "" "" "" "PDGFRB(NM_002609.4):c.2023+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976659" "0" "30" "5" "149503808" "149503808" "subst" "3.68098E-5" "01804" "PDGFRB_000108" "g.149503808G>A" "" "" "" "PDGFRB(NM_002609.4):c.2023+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976660" "0" "30" "5" "149504306" "149504306" "subst" "0.000633724" "01804" "PDGFRB_000109" "g.149504306G>A" "" "" "" "PDGFRB(NM_002609.4):c.1896C>T (p.(Ala632=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976661" "0" "50" "5" "149506141" "149506141" "subst" "0" "01804" "PDGFRB_000110" "g.149506141A>G" "" "" "" "PDGFRB(NM_002609.4):c.1616T>C (p.(Leu539Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976662" "0" "30" "5" "149513195" "149513195" "subst" "0" "01804" "PDGFRB_000111" "g.149513195A>G" "" "" "" "PDGFRB(NM_002609.4):c.888T>C (p.(Ser296=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976663" "0" "50" "5" "149513456" "149513456" "subst" "0" "01804" "PDGFRB_000112" "g.149513456G>T" "" "" "" "PDGFRB(NM_002609.4):c.747C>A (p.(Tyr249Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994782" "0" "50" "5" "149495510" "149495510" "subst" "0" "01804" "CSF1R_000099" "g.149495510C>T" "" "" "" "PDGFRB(NM_002609.3):c.3138-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994783" "0" "30" "5" "149497292" "149497292" "subst" "2.84317E-5" "01804" "CSF1R_000100" "g.149497292T>C" "" "" "" "PDGFRB(NM_002609.3):c.3026A>G (p.(Tyr1009Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994784" "0" "50" "5" "149498324" "149498324" "subst" "3.65607E-5" "01804" "PDGFRB_000113" "g.149498324C>T" "" "" "" "PDGFRB(NM_002609.3):c.2890G>A (p.(Glu964Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994785" "0" "50" "5" "149498359" "149498359" "subst" "2.43774E-5" "01804" "PDGFRB_000114" "g.149498359G>C" "" "" "" "PDGFRB(NM_002609.3):c.2855C>G (p.(Ser952Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994786" "0" "30" "5" "149500846" "149500846" "subst" "4.06068E-6" "01804" "PDGFRB_000115" "g.149500846G>A" "" "" "" "PDGFRB(NM_002609.3):c.2384C>T (p.(Ser795Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994787" "0" "30" "5" "149502662" "149502662" "subst" "3.65827E-5" "01804" "PDGFRB_000028" "g.149502662C>T" "" "" "" "PDGFRB(NM_002609.3):c.2126G>A (p.(Arg709His)), PDGFRB(NM_002609.4):c.2126G>A (p.R709H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994788" "0" "50" "5" "149506136" "149506136" "subst" "0" "01804" "PDGFRB_000116" "g.149506136G>C" "" "" "" "PDGFRB(NM_002609.3):c.1621C>G (p.(Leu541Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994789" "0" "30" "5" "149509364" "149509364" "subst" "3.65952E-5" "01804" "PDGFRB_000117" "g.149509364T>C" "" "" "" "PDGFRB(NM_002609.3):c.1535A>G (p.(Asn512Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994790" "0" "30" "5" "149509379" "149509379" "subst" "0.000308918" "01804" "PDGFRB_000118" "g.149509379C>T" "" "" "" "PDGFRB(NM_002609.3):c.1520G>A (p.(Arg507His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994791" "0" "30" "5" "149509505" "149509505" "subst" "0" "01804" "PDGFRB_000119" "g.149509505A>G" "" "" "" "PDGFRB(NM_002609.3):c.1394T>C (p.(Leu465Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994792" "0" "30" "5" "149509520" "149509520" "subst" "0" "01804" "PDGFRB_000120" "g.149509520T>G" "" "" "" "PDGFRB(NM_002609.3):c.1379A>C (p.(Glu460Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994793" "0" "30" "5" "149510171" "149510171" "subst" "3.26355E-5" "01804" "PDGFRB_000121" "g.149510171G>C" "" "" "" "PDGFRB(NM_002609.3):c.1298C>G (p.(Thr433Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994794" "0" "30" "5" "149511562" "149511562" "subst" "0.000638679" "01804" "PDGFRB_000064" "g.149511562G>C" "" "" "" "PDGFRB(NM_001355017.1):c.740C>G (p.S247C), PDGFRB(NM_002609.3):c.1223C>G (p.(Ser408Cys)), PDGFRB(NM_002609.4):c.1223C>G (p.S408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994795" "0" "30" "5" "149512334" "149512334" "subst" "3.70605E-5" "01804" "PDGFRB_000089" "g.149512334G>A" "" "" "" "PDGFRB(NM_001355017.1):c.623C>T (p.T208M), PDGFRB(NM_002609.3):c.1106C>T (p.(Thr369Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994796" "0" "30" "5" "149513239" "149513239" "subst" "4.46682E-5" "01804" "PDGFRB_000082" "g.149513239C>T" "" "" "" "PDGFRB(NM_002609.3):c.844G>A (p.(Glu282Lys)), PDGFRB(NM_002609.4):c.844G>A (p.E282K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994797" "0" "50" "5" "149514508" "149514508" "subst" "0" "01804" "PDGFRB_000122" "g.149514508T>C" "" "" "" "PDGFRB(NM_002609.3):c.436A>G (p.(Thr146Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994798" "0" "30" "5" "149515151" "149515151" "subst" "2.45747E-5" "01804" "PDGFRB_000045" "g.149515151C>T" "" "" "" "PDGFRB(NM_002609.3):c.331G>A (p.D111N, p.(Asp111Asn)), PDGFRB(NM_002609.4):c.331G>A (p.D111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994799" "0" "30" "5" "149515165" "149515165" "subst" "4.07604E-6" "01804" "PDGFRB_000123" "g.149515165C>T" "" "" "" "PDGFRB(NM_002609.3):c.317G>A (p.(Arg106His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994800" "0" "30" "5" "149515289" "149515289" "subst" "0" "01804" "PDGFRB_000124" "g.149515289T>A" "" "" "" "PDGFRB(NM_002609.3):c.193A>T (p.(Met65Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994801" "0" "50" "5" "149515295" "149515295" "subst" "0" "01804" "PDGFRB_000125" "g.149515295C>T" "" "" "" "PDGFRB(NM_002609.3):c.187G>A (p.(Glu63Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014101" "0" "50" "5" "149499073" "149499073" "subst" "1.62444E-5" "02325" "PDGFRB_000126" "g.149499073G>A" "" "" "" "PDGFRB(NM_002609.4):c.2755C>T (p.R919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014102" "0" "50" "5" "149506161" "149506161" "subst" "0" "02327" "PDGFRB_000127" "g.149506161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035024" "0" "30" "5" "149500473" "149500473" "subst" "4.06141E-6" "01804" "PDGFRB_000128" "g.149500473G>A" "" "" "" "PDGFRB(NM_002609.4):c.2564C>T (p.(Ser855Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035025" "0" "30" "5" "149500571" "149500571" "subst" "0.000134053" "01804" "PDGFRB_000024" "g.149500571G>A" "" "" "" "PDGFRB(NM_002609.3):c.2466C>T (p.C822=), PDGFRB(NM_002609.4):c.2466C>T (p.(Cys822=), p.C822=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035026" "0" "30" "5" "149500867" "149500867" "subst" "1.21828E-5" "01804" "PDGFRB_000129" "g.149500867C>T" "" "" "" "PDGFRB(NM_002609.4):c.2363G>A (p.(Arg788Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035027" "0" "50" "5" "149502705" "149502705" "subst" "0.000109701" "01804" "PDGFRB_000130" "g.149502705G>A" "" "" "" "PDGFRB(NM_002609.4):c.2083C>T (p.(Arg695Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035028" "0" "50" "5" "149512515" "149512515" "subst" "0" "01804" "PDGFRB_000131" "g.149512515G>T" "" "" "" "PDGFRB(NM_002609.4):c.935-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035029" "0" "30" "5" "149514461" "149514461" "subst" "1.62426E-5" "01804" "PDGFRB_000132" "g.149514461G>A" "" "" "" "PDGFRB(NM_001355017.2):c.-35C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035030" "0" "30" "5" "149515338" "149515338" "subst" "0" "01804" "PDGFRB_000133" "g.149515338G>C" "" "" "" "PDGFRB(NM_002609.4):c.144C>G (p.(Ser48Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052157" "0" "50" "5" "149495337" "149495340" "del" "0" "01804" "CSF1R_000106" "g.149495337_149495340del" "" "" "" "PDGFRB(NM_002609.4):c.3308_3311del (p.(Asp1103Alafs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052158" "0" "50" "5" "149495498" "149495498" "subst" "1.15883E-5" "01804" "CSF1R_000107" "g.149495498T>C" "" "" "" "PDGFRB(NM_002609.4):c.3149A>G (p.(Asn1050Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052159" "0" "50" "5" "149501488" "149501488" "subst" "0" "01804" "PDGFRB_000134" "g.149501488C>G" "" "" "" "PDGFRB(NM_002609.4):c.2299G>C (p.(Glu767Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052160" "0" "10" "5" "149505054" "149505054" "subst" "0.00211708" "01804" "PDGFRB_000077" "g.149505054C>T" "" "" "" "PDGFRB(NM_002609.4):c.1761G>A (p.(Leu587=), p.L587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001052161" "0" "30" "5" "149509395" "149509395" "subst" "0.00112537" "01804" "PDGFRB_000035" "g.149509395G>A" "" "" "" "PDGFRB(NM_002609.3):c.1504C>T (p.R502W), PDGFRB(NM_002609.4):c.1504C>T (p.(Arg502Trp), p.R502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052162" "0" "30" "5" "149509447" "149509447" "subst" "6.49725E-5" "01804" "PDGFRB_000087" "g.149509447C>T" "" "" "" "PDGFRB(NM_001355017.1):c.969G>A (p.E323=), PDGFRB(NM_002609.4):c.1452G>A (p.(Glu484=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052163" "0" "30" "5" "149510166" "149510166" "subst" "7.7558E-5" "01804" "PDGFRB_000135" "g.149510166G>A" "" "" "" "PDGFRB(NM_002609.4):c.1303C>T (p.(Arg435Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052164" "0" "30" "5" "149515380" "149515380" "subst" "0.0214262" "01804" "PDGFRB_000048" "g.149515380G>A" "" "" "" "PDGFRB(NM_002609.4):c.102C>T (p.(Val34=), p.V34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052165" "0" "30" "5" "149516607" "149516607" "subst" "4.48939E-5" "01804" "PDGFRB_000102" "g.149516607G>A" "" "" "" "PDGFRB(NM_002609.3):c.4C>T (p.R2W), PDGFRB(NM_002609.4):c.4C>T (p.(Arg2Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064442" "0" "50" "5" "149505125" "149505125" "subst" "0" "02325" "PDGFRB_000136" "g.149505125T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064443" "0" "30" "5" "149515318" "149515318" "subst" "9.37742E-5" "02325" "PDGFRB_000137" "g.149515318G>A" "" "" "" "" "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 PDGFRB ## Count = 229 "{{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}}" "0000078650" "00015903" "90" "1994" "0" "1994" "0" "c.1994T>C" "r.1994u>c" "p.Val665Ala" "14" "0000078651" "00015903" "90" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Val665Ala)" "14" "0000078652" "00015903" "90" "1994" "0" "1994" "0" "c.1994T>C" "r.1994u>c" "p.(Val665Ala)" "14" "0000078653" "00015903" "90" "1994" "0" "1994" "0" "c.1994T>C" "r.(?)" "p.(Val665Ala)" "14" "0000158316" "00015903" "90" "2549" "0" "2549" "0" "c.2549A>T" "r.(?)" "p.(Asp850Val)" "18" "0000163063" "00015903" "90" "1751" "0" "1751" "0" "c.1751C>G" "r.(?)" "p.(Pro584Arg)" "12" "0000163064" "00015903" "90" "1751" "0" "1751" "0" "c.1751C>G" "r.(?)" "p.(Pro584Arg)" "12" "0000163067" "00015903" "90" "1696" "0" "1696" "0" "c.1696T>M" "r.(?)" "p.(Trp566Arg)" "12" "0000163068" "00015903" "90" "1696" "0" "1696" "0" "c.1696T>M" "r.(?)" "p.(Trp566Arg)" "12" "0000163324" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>G" "r.(?)" "p.(Asn666Lys)" "14" "0000163325" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Asn666Lys)" "14" "0000163326" "00015903" "90" "1697" "0" "1702" "0" "c.1697_1702del" "r.(?)" "p.(Trp566_Val568delinsLeu)" "12" "0000163329" "00015903" "90" "1696" "0" "1696" "0" "c.1696T>C" "r.(?)" "p.(Trp566Arg)" "12" "0000163330" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Asn666Lys)" "14" "0000163331" "00015903" "90" "1696" "0" "1696" "0" "c.1696T>C" "r.(?)" "p.(Trp566Arg)" "12" "0000163334" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Asn666Lys)" "14" "0000163336" "00015903" "90" "1696" "0" "1696" "0" "c.1696T>C" "r.(?)" "p.(Trp566Arg)" "12" "0000163338" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Asn666Lys)" "14" "0000163339" "00015903" "90" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Cys)" "12" "0000163340" "00015903" "90" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Asn666Lys)" "14" "0000163341" "00015903" "90" "1615" "0" "1616" "0" "c.1615_1616insGAT" "r.(?)" "p.(Ile538_Leu539insArg)" "11" "0000163342" "00015903" "90" "1615" "0" "1616" "0" "c.1615_1616insGAT" "r.(?)" "p.(Ile538_Leu539insArg)" "11" "0000163343" "00015903" "90" "1615" "0" "1616" "0" "c.1615_1616insGAT" "r.(?)" "p.(Ile538_Leu539insArg)" "11" "0000163344" "00015903" "90" "2549" "0" "2549" "0" "c.2549A>T" "r.(?)" "p.(Asp850Val)" "18" "0000163345" "00015903" "90" "1615" "0" "1616" "0" "c.1615_1616insGAT" "r.(?)" "p.(Ile538_Leu539insArg)" "11" "0000250287" "00015903" "30" "1872" "0" "1872" "0" "c.1872T>C" "r.(?)" "p.(His624=)" "" "0000255966" "00015903" "50" "2929" "0" "2929" "0" "c.2929T>C" "r.(?)" "p.(Phe977Leu)" "" "0000296861" "00015903" "10" "3137" "4" "3137" "4" "c.3137+4A>G" "r.spl?" "p.?" "" "0000296862" "00015903" "10" "3252" "0" "3252" "0" "c.3252A>G" "r.(?)" "p.(Pro1084=)" "" "0000298823" "00015903" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Val34=)" "" "0000298824" "00015903" "10" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Pro345Ser)" "" "0000298825" "00015903" "10" "1149" "0" "1149" "0" "c.1149G>C" "r.(?)" "p.(Leu383=)" "" "0000298826" "00015903" "30" "1244" "-14" "1244" "-14" "c.1244-14C>T" "r.(=)" "p.(=)" "" "0000298827" "00015903" "30" "1391" "0" "1391" "0" "c.1391C>T" "r.(?)" "p.(Thr464Met)" "" "0000298828" "00015903" "10" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Glu485Lys)" "" "0000298829" "00015903" "30" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "" "0000298830" "00015903" "30" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000298831" "00015903" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Leu552Phe)" "" "0000298832" "00015903" "50" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Asp575Asn)" "" "0000298833" "00015903" "10" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Thr618=)" "" "0000298834" "00015903" "30" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Tyr686=)" "" "0000298835" "00015903" "30" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709His)" "" "0000298836" "00015903" "50" "2326" "0" "2326" "0" "c.2326G>A" "r.(?)" "p.(Asp776Asn)" "" "0000298837" "00015903" "30" "2345" "-18" "2345" "-18" "c.2345-18C>T" "r.(=)" "p.(=)" "" "0000298838" "00015903" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Leu85=)" "" "0000298839" "00015903" "10" "2601" "0" "2601" "0" "c.2601A>G" "r.(?)" "p.(Leu867=)" "" "0000298840" "00015903" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Thr88Ile)" "" "0000298841" "00015903" "30" "2844" "0" "2844" "0" "c.2844G>A" "r.(?)" "p.(Arg948=)" "" "0000298842" "00015903" "10" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(Pro1030=)" "" "0000298843" "00015903" "10" "3137" "4" "3137" "4" "c.3137+4A>G" "r.spl?" "p.?" "" "0000298844" "00015903" "30" "3165" "0" "3165" "0" "c.3165C>T" "r.(?)" "p.(Ser1055=)" "" "0000298845" "00015903" "10" "3252" "0" "3252" "0" "c.3252A>G" "r.(?)" "p.(Pro1084=)" "" "0000298846" "00015903" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "" "0000298847" "00015903" "10" "85" "0" "85" "0" "c.85A>T" "r.(?)" "p.(Ile29Phe)" "" "0000305387" "00015903" "30" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Tyr343=)" "" "0000305388" "00015903" "30" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355His)" "" "0000305389" "00015903" "30" "1149" "0" "1149" "0" "c.1149G>C" "r.(?)" "p.(Leu383=)" "" "0000305390" "00015903" "10" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Thr618=)" "" "0000305391" "00015903" "50" "2321" "0" "2321" "0" "c.2321C>G" "r.(?)" "p.(Pro774Arg)" "" "0000305392" "00015903" "30" "2466" "0" "2466" "0" "c.2466C>T" "r.(?)" "p.(Cys822=)" "" "0000305393" "00015903" "50" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Gly861Asp)" "" "0000305394" "00015903" "10" "2601" "0" "2601" "0" "c.2601A>G" "r.(?)" "p.(Leu867=)" "" "0000305395" "00015903" "50" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000305396" "00015903" "30" "2889" "0" "2889" "0" "c.2889C>T" "r.(?)" "p.(Gly963=)" "" "0000305397" "00015903" "50" "2939" "0" "2939" "0" "c.2939G>A" "r.(?)" "p.(Ser980Asn)" "" "0000305398" "00015903" "10" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(Pro1030=)" "" "0000305399" "00015903" "10" "3137" "4" "3137" "4" "c.3137+4A>G" "r.spl?" "p.?" "" "0000305400" "00015903" "10" "3252" "0" "3252" "0" "c.3252A>G" "r.(?)" "p.(Pro1084=)" "" "0000305401" "00015903" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Trp)" "" "0000305402" "00015903" "30" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Lys)" "" "0000305403" "00015903" "30" "858" "0" "858" "0" "c.858G>A" "r.(?)" "p.(Ser286=)" "" "0000330674" "00015903" "30" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ala1096Val)" "" "0000408374" "00015903" "90" "1997" "0" "1997" "0" "c.1997A>G" "r.(?)" "p.(Asn666Ser)" "14" "0000447042" "00015903" "90" "0" "0" "0" "0" "c.1580_*1924{0}" "r.-469_1579::NM_153649.3:r.665del_*2326" "p.?" "" "0000447043" "00015903" "90" "0" "0" "0" "0" "c.-469_1579{0}" "NM_152263.2:r.-115_775::r.1580_*1924" "p.?" "" "0000524871" "00015903" "30" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ala1096Val)" "" "0000524872" "00015903" "10" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ala1096Val)" "" "0000524873" "00015903" "10" "3252" "0" "3252" "0" "c.3252A>G" "r.(?)" "p.(Pro1084=)" "" "0000524874" "00015903" "10" "3137" "4" "3137" "4" "c.3137+4A>G" "r.spl?" "p.?" "" "0000524875" "00015903" "30" "3102" "0" "3102" "0" "c.3102C>T" "r.(?)" "p.(Asp1034=)" "" "0000524876" "00015903" "10" "3090" "0" "3090" "0" "c.3090C>T" "r.(?)" "p.(Pro1030=)" "" "0000524877" "00015903" "30" "3075" "0" "3075" "0" "c.3075G>T" "r.(?)" "p.(Leu1025=)" "" "0000524878" "00015903" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Ala1011=)" "" "0000524879" "00015903" "30" "2997" "0" "2997" "0" "c.2997A>T" "r.(?)" "p.(Arg999=)" "" "0000524880" "00015903" "30" "2997" "0" "2997" "0" "c.2997A>T" "r.(?)" "p.(Arg999=)" "" "0000524881" "00015903" "50" "2960" "0" "2960" "0" "c.2960G>A" "r.(?)" "p.(Arg987Gln)" "" "0000524882" "00015903" "30" "2904" "15" "2904" "15" "c.2904+15G>A" "r.(=)" "p.(=)" "" "0000524883" "00015903" "30" "2844" "0" "2844" "0" "c.2844G>A" "r.(?)" "p.(Arg948=)" "" "0000524884" "00015903" "50" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(His928Tyr)" "" "0000524885" "00015903" "30" "2655" "0" "2655" "0" "c.2655C>T" "r.(?)" "p.(Asp885=)" "" "0000524886" "00015903" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Thr881=)" "" "0000524887" "00015903" "10" "2601" "0" "2601" "0" "c.2601A>G" "r.(?)" "p.(Leu867=)" "" "0000524888" "00015903" "30" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Lys841=)" "" "0000524889" "00015903" "30" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Lys841=)" "" "0000524890" "00015903" "30" "2466" "0" "2466" "0" "c.2466C>T" "r.(?)" "p.(Cys822=)" "" "0000524891" "00015903" "10" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Thr618=)" "" "0000524892" "00015903" "90" "1681" "0" "1681" "0" "c.1681C>T" "r.(?)" "p.(Arg561Cys)" "" "0000524893" "00015903" "30" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Thr518=)" "" "0000524894" "00015903" "30" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000524895" "00015903" "30" "1505" "0" "1505" "0" "c.1505G>A" "r.(?)" "p.(Arg502Gln)" "" "0000524896" "00015903" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "" "0000524897" "00015903" "30" "1473" "0" "1473" "0" "c.1473G>A" "r.(?)" "p.(Val491=)" "" "0000524898" "00015903" "10" "1453" "0" "1453" "0" "c.1453G>A" "r.(?)" "p.(Glu485Lys)" "" "0000524899" "00015903" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Asn479=)" "" "0000524900" "00015903" "30" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Leu465=)" "" "0000524901" "00015903" "30" "1391" "0" "1391" "0" "c.1391C>T" "r.(?)" "p.(Thr464Met)" "" "0000524902" "00015903" "30" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459His)" "" "0000524906" "00015903" "10" "1149" "0" "1149" "0" "c.1149G>C" "r.(?)" "p.(Leu383=)" "" "0000524907" "00015903" "30" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Arg370Cys)" "" "0000524908" "00015903" "50" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355His)" "" "0000524909" "00015903" "30" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "" "0000524910" "00015903" "50" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Arg317Gln)" "" "0000524911" "00015903" "30" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000524912" "00015903" "30" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000524913" "00015903" "30" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000524914" "00015903" "30" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(His300Arg)" "" "0000524915" "00015903" "30" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(His300Arg)" "" "0000524916" "00015903" "30" "759" "6" "759" "6" "c.759+6G>T" "r.(=)" "p.(=)" "" "0000524917" "00015903" "50" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Ile194Thr)" "" "0000524918" "00015903" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Ile194Thr)" "" "0000524919" "00015903" "30" "365" "-4" "365" "-4" "c.365-4G>T" "r.spl?" "p.?" "" "0000524920" "00015903" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Thr88Ile)" "" "0000524921" "00015903" "30" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Gln71Arg)" "" "0000524922" "00015903" "30" "85" "0" "85" "0" "c.85A>T" "r.(?)" "p.(Ile29Phe)" "" "0000592184" "00015903" "90" "1996" "0" "1996" "0" "c.1996A>C" "r.(?)" "p.(Asn666His)" "" "0000609577" "00015903" "30" "3246" "0" "3246" "0" "c.3246G>A" "r.(?)" "p.(Pro1082=)" "" "0000609578" "00015903" "50" "2195" "0" "2195" "0" "c.2195T>G" "r.(?)" "p.(Leu732Trp)" "" "0000609579" "00015903" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Leu587=)" "" "0000609580" "00015903" "30" "1579" "10" "1579" "10" "c.1579+10C>T" "r.(=)" "p.(=)" "" "0000609581" "00015903" "30" "1368" "0" "1368" "0" "c.1368G>A" "r.(?)" "p.(Arg456=)" "" "0000609582" "00015903" "30" "1367" "15" "1367" "15" "c.1367+15G>A" "r.(=)" "p.(=)" "" "0000609584" "00015903" "50" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Ter)" "" "0000609585" "00015903" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Leu85=)" "" "0000609586" "00015903" "30" "-6" "-5" "-6" "-5" "c.-6-5T>C" "r.spl?" "p.?" "" "0000609587" "00015903" "10" "-302" "0" "-302" "0" "c.-302C>T" "r.(?)" "p.(=)" "" "0000621511" "00015903" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000621512" "00015903" "30" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Ala6Val)" "" "0000655332" "00015903" "70" "2905" "-8" "2905" "-8" "c.2905-8G>A" "r.(=)" "p.(=)" "" "0000655334" "00015903" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Glu484=)" "" "0000655335" "00015903" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Ile194Thr)" "" "0000677437" "00015903" "70" "1696" "0" "1696" "0" "c.1696T>C" "r.(?)" "p.(Trp566Arg)" "" "0000677438" "00015903" "50" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "" "0000677439" "00015903" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Met)" "" "0000689465" "00015903" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Ser)" "" "0000720274" "00015903" "30" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ala1096Val)" "" "0000720275" "00015903" "30" "3270" "0" "3270" "0" "c.3270G>A" "r.(?)" "p.(Pro1090=)" "" "0000720276" "00015903" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Pro872Leu)" "" "0000720277" "00015903" "50" "2467" "0" "2467" "0" "c.2467G>A" "r.(?)" "p.(Val823Ile)" "" "0000720278" "00015903" "30" "2464" "-3" "2464" "-3" "c.2464-3C>T" "r.spl?" "p.?" "" "0000720279" "00015903" "50" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "" "0000720280" "00015903" "30" "1243" "4" "1243" "4" "c.1243+4A>T" "r.spl?" "p.?" "" "0000720281" "00015903" "30" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Ile238=)" "" "0000720282" "00015903" "50" "11" "0" "11" "0" "c.11C>A" "r.(?)" "p.(Pro4Gln)" "" "0000720283" "00015903" "30" "-6" "-15" "-6" "-15" "c.-6-15T>C" "r.(=)" "p.(=)" "" "0000801964" "00015903" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Tyr315=)" "" "0000830799" "00015903" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Ser)" "4" "0000850837" "00015903" "50" "2747" "0" "2747" "0" "c.2747C>T" "r.(?)" "p.(Ala916Val)" "" "0000850838" "00015903" "50" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Ser408Cys)" "" "0000850839" "00015903" "30" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Ile194Thr)" "" "0000850840" "00015903" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "" "0000850841" "00015903" "30" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Trp)" "" "0000859826" "00015903" "30" "3119" "0" "3119" "0" "c.3119G>T" "r.(?)" "p.(Gly1040Val)" "" "0000859827" "00015903" "30" "2844" "0" "2844" "0" "c.2844G>A" "r.(?)" "p.(Arg948=)" "" "0000859828" "00015903" "30" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Lys841=)" "" "0000859829" "00015903" "50" "2208" "0" "2208" "0" "c.2208C>A" "r.(?)" "p.(Ser736Arg)" "" "0000859830" "00015903" "30" "2184" "-3" "2184" "-3" "c.2184-3C>T" "r.spl?" "p.?" "" "0000859831" "00015903" "10" "1854" "0" "1854" "0" "c.1854G>A" "r.(?)" "p.(Thr618=)" "" "0000859832" "00015903" "30" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Pro345Ser)" "" "0000859833" "00015903" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Ile238=)" "" "0000886691" "00015903" "30" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709His)" "" "0000886692" "00015903" "30" "1808" "-4" "1808" "-4" "c.1808-4C>A" "r.spl?" "p.?" "" "0000886693" "00015903" "50" "1156" "0" "1156" "0" "c.1156G>C" "r.(?)" "p.(Val386Leu)" "" "0000912264" "00015903" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177His)" "" "0000924281" "00015903" "30" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Val1007Ile)" "" "0000948510" "00015903" "50" "1975" "0" "1975" "0" "c.1975G>A" "r.(?)" "p.(Gly659Arg)" "" "0000948511" "00015903" "30" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Ser408Cys)" "" "0000948512" "00015903" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000976652" "00015903" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(=)" "" "0000976653" "00015903" "30" "3137" "69" "3137" "70" "c.3137+69_3137+70insCGCG" "r.(=)" "p.(=)" "" "0000976654" "00015903" "30" "2971" "0" "2971" "0" "c.2971C>T" "r.(?)" "p.(Arg991Cys)" "" "0000976655" "00015903" "50" "2905" "-2" "2905" "-2" "c.2905-2A>C" "r.spl?" "p.?" "" "0000976656" "00015903" "30" "2705" "0" "2705" "0" "c.2705C>T" "r.(?)" "p.(Thr902Ile)" "" "0000976657" "00015903" "30" "2195" "0" "2195" "0" "c.2195T>G" "r.(?)" "p.(Leu732Trp)" "" "0000976658" "00015903" "30" "2023" "6" "2023" "6" "c.2023+6G>A" "r.(=)" "p.(=)" "" "0000976659" "00015903" "30" "2023" "5" "2023" "5" "c.2023+5C>T" "r.spl?" "p.?" "" "0000976660" "00015903" "30" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(=)" "" "0000976661" "00015903" "50" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" "" "0000976662" "00015903" "30" "888" "0" "888" "0" "c.888T>C" "r.(?)" "p.(=)" "" "0000976663" "00015903" "50" "747" "0" "747" "0" "c.747C>A" "r.(?)" "p.(Tyr249*)" "" "0000994782" "00015903" "50" "3138" "-1" "3138" "-1" "c.3138-1G>A" "r.spl?" "p.?" "" "0000994783" "00015903" "30" "3026" "0" "3026" "0" "c.3026A>G" "r.(?)" "p.(Tyr1009Cys)" "" "0000994784" "00015903" "50" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Glu964Lys)" "" "0000994785" "00015903" "50" "2855" "0" "2855" "0" "c.2855C>G" "r.(?)" "p.(Ser952Cys)" "" "0000994786" "00015903" "30" "2384" "0" "2384" "0" "c.2384C>T" "r.(?)" "p.(Ser795Phe)" "" "0000994787" "00015903" "30" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709His)" "" "0000994788" "00015903" "50" "1621" "0" "1621" "0" "c.1621C>G" "r.(?)" "p.(Leu541Val)" "" "0000994789" "00015903" "30" "1535" "0" "1535" "0" "c.1535A>G" "r.(?)" "p.(Asn512Ser)" "" "0000994790" "00015903" "30" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Arg507His)" "" "0000994791" "00015903" "30" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Leu465Pro)" "" "0000994792" "00015903" "30" "1379" "0" "1379" "0" "c.1379A>C" "r.(?)" "p.(Glu460Ala)" "" "0000994793" "00015903" "30" "1298" "0" "1298" "0" "c.1298C>G" "r.(?)" "p.(Thr433Arg)" "" "0000994794" "00015903" "30" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Ser408Cys)" "" "0000994795" "00015903" "30" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Met)" "" "0000994796" "00015903" "30" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Glu282Lys)" "" "0000994797" "00015903" "50" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Thr146Ala)" "" "0000994798" "00015903" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "" "0000994799" "00015903" "30" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "" "0000994800" "00015903" "30" "193" "0" "193" "0" "c.193A>T" "r.(?)" "p.(Met65Leu)" "" "0000994801" "00015903" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Glu63Lys)" "" "0001014101" "00015903" "50" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Arg919Trp)" "" "0001014102" "00015903" "50" "1596" "0" "1596" "0" "c.1596G>A" "r.(?)" "p.(=)" "" "0001035024" "00015903" "30" "2564" "0" "2564" "0" "c.2564C>T" "r.(?)" "p.(Ser855Leu)" "" "0001035025" "00015903" "30" "2466" "0" "2466" "0" "c.2466C>T" "r.(?)" "p.(Cys822=)" "" "0001035026" "00015903" "30" "2363" "0" "2363" "0" "c.2363G>A" "r.(?)" "p.(Arg788Gln)" "" "0001035027" "00015903" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "0001035028" "00015903" "50" "935" "-10" "935" "-10" "c.935-10C>A" "r.(=)" "p.(=)" "" "0001035029" "00015903" "30" "483" "0" "483" "0" "c.483C>T" "r.(?)" "p.(=)" "" "0001035030" "00015903" "30" "144" "0" "144" "0" "c.144C>G" "r.(?)" "p.(Ser48Arg)" "" "0001052157" "00015903" "50" "3308" "0" "3311" "0" "c.3308_3311del" "r.(?)" "p.(Asp1103Alafs*28)" "" "0001052158" "00015903" "50" "3149" "0" "3149" "0" "c.3149A>G" "r.(?)" "p.(Asn1050Ser)" "" "0001052159" "00015903" "50" "2299" "0" "2299" "0" "c.2299G>C" "r.(?)" "p.(Glu767Gln)" "" "0001052160" "00015903" "10" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(Leu587=)" "" "0001052161" "00015903" "30" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "" "0001052162" "00015903" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Glu484=)" "" "0001052163" "00015903" "30" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Cys)" "" "0001052164" "00015903" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Val34=)" "" "0001052165" "00015903" "30" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Arg2Trp)" "" "0001064442" "00015903" "50" "1690" "0" "1690" "0" "c.1690A>C" "r.(?)" "p.(Ile564Leu)" "" "0001064443" "00015903" "30" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Ser55Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000049765" "0000078650" "0000049766" "0000078651" "0000049767" "0000078652" "0000049768" "0000078653" "0000096322" "0000158316" "0000100710" "0000163063" "0000100711" "0000163064" "0000100713" "0000163067" "0000100714" "0000163068" "0000100920" "0000163324" "0000100921" "0000163325" "0000100922" "0000163326" "0000100927" "0000163329" "0000100927" "0000163330" "0000100928" "0000163331" "0000100928" "0000163334" "0000100932" "0000163336" "0000100932" "0000163338" "0000100934" "0000163339" "0000100934" "0000163340" "0000100935" "0000163341" "0000100936" "0000163342" "0000100937" "0000163343" "0000100938" "0000163344" "0000100940" "0000163345" "0000184331" "0000408374" "0000214618" "0000447042" "0000214618" "0000447043" "0000262049" "0000592184" "0000398585" "0000830799"