### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTPRJ) # 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}}" "PTPRJ" "protein tyrosine phosphatase, receptor type, J" "11" "p11.2" "unknown" "NG_012209.1" "UD_132085270319" "" "https://www.LOVD.nl/PTPRJ" "" "1" "9673" "5795" "600925" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PTPRJ_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-27 15:18:03" "00000" "2025-02-07 18:57:27" ## 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}}" "00025648" "PTPRJ" "transcript variant 1" "002" "NM_002843.3" "" "NP_002834.3" "" "" "" "-355" "7494" "4014" "48002110" "48192394" "00006" "2021-10-27 15:17:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PTPRJ" "00091" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00017599" "" "" "" "1" "" "00006" "{PMID:Casey 2014:24824133}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" "" "00104039" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-772A" "00248204" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00017599" "00332" "00104039" "03381" "00248204" "00318" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00318, 00332, 03381 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015958" "00332" "00017599" "00006" "Isolated (sporadic)" "" "see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081973" "03381" "00104039" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187213" "00318" "00248204" "01474" "Unknown" "" "35y ductal reast cancer" "35y" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017582" "00017599" "1" "00006" "00006" "2014-06-20 23:46:41" "00006" "2014-06-21 21:46:02" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" "" "0000104510" "00104039" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000249309" "00248204" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000017582" "ADRA1D" "0000017582" "AGXT" "0000017582" "DYX1C1" "0000017582" "EIF3CL" "0000017582" "IRF5" "0000017582" "LPHN3" "0000017582" "MYO18B" "0000017582" "PTPRJ" "0000017582" "STARD9" "0000017582" "TUBGCP6" ## 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 = 38 "{{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}}" "0000037586" "3" "50" "11" "48002511" "48002511" "subst" "0" "00006" "PTPRJ_000001" "g.48002511G>A" "" "{PMID:Casey 2014:24824133}" "" "" "" "Unknown" "" "" "0" "" "" "g.47980959G>A" "" "VUS" "" "0000169444" "0" "70" "11" "48157849" "48157849" "subst" "0" "00587" "PTPRJ_000002" "g.48157849G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002843.3(PTPRJ):c.1873+1G>A r.spl p.?" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.48136297G>A" "" "likely pathogenic" "" "0000248880" "0" "10" "11" "48145375" "48145375" "subst" "0.168234" "02325" "PTPRJ_000007" "g.48145375A>C" "" "" "" "PTPRJ(NM_002843.4):c.827A>C (p.Q276P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48123823A>C" "" "benign" "" "0000250228" "0" "10" "11" "48158849" "48158849" "subst" "0.00391715" "02329" "PTPRJ_000016" "g.48158849A>G" "" "" "" "PTPRJ(NM_002843.4):c.2152+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48137297A>G" "" "benign" "" "0000250466" "0" "30" "11" "48177349" "48177349" "subst" "0.000195467" "02329" "PTPRJ_000026" "g.48177349A>G" "" "" "" "PTPRJ(NM_002843.4):c.3230-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48155797A>G" "" "likely benign" "" "0000254741" "0" "30" "11" "48161049" "48161049" "subst" "2.03477E-5" "01943" "PTPRJ_000023" "g.48161049A>G" "" "" "" "PTPRJ(NM_002843.3):c.2164A>G (p.M722V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48139497A>G" "" "likely benign" "" "0000297500" "0" "10" "11" "48146622" "48146622" "subst" "0.177272" "02325" "PTPRJ_000008" "g.48146622G>A" "" "" "" "PTPRJ(NM_002843.4):c.977G>A (p.R326Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48125070G>A" "" "benign" "" "0000299216" "0" "10" "11" "48149352" "48149352" "subst" "0.00684452" "02329" "PTPRJ_000010" "g.48149352G>A" "" "" "" "PTPRJ(NM_002843.4):c.1114G>A (p.V372I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48127800G>A" "" "benign" "" "0000299217" "0" "30" "11" "48131637" "48131637" "subst" "5.28326E-5" "02329" "PTPRJ_000005" "g.48131637C>T" "" "" "" "PTPRJ(NM_002843.4):c.115+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48110085C>T" "" "likely benign" "" "0000299218" "0" "30" "11" "48149478" "48149478" "subst" "0.00148279" "02329" "PTPRJ_000011" "g.48149478G>A" "" "" "" "PTPRJ(NM_002843.4):c.1240G>A (p.V414I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48127926G>A" "" "likely benign" "" "0000299219" "0" "10" "11" "48149491" "48149491" "subst" "0.00611792" "02329" "PTPRJ_000012" "g.48149491G>A" "" "" "" "PTPRJ(NM_002843.4):c.1253G>A (p.R418H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48127939G>A" "" "benign" "" "0000299220" "0" "50" "11" "48152185" "48152185" "subst" "0.000154429" "02329" "PTPRJ_000013" "g.48152185C>T" "" "" "" "PTPRJ(NM_002843.4):c.1532C>T (p.P511L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48130633C>T" "" "VUS" "" "0000299222" "0" "30" "11" "48134465" "48134465" "subst" "0.00124327" "02329" "PTPRJ_000006" "g.48134465T>C" "" "" "" "PTPRJ(NM_002843.4):c.282T>C (p.D94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48112913T>C" "" "likely benign" "" "0000299223" "0" "30" "11" "48166641" "48166641" "subst" "0.00021136" "02329" "PTPRJ_000024" "g.48166641G>A" "" "" "" "PTPRJ(NM_002843.3):c.2876G>A (p.R959H), PTPRJ(NM_002843.4):c.2876G>A (p.R959H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48145089G>A" "" "likely benign" "" "0000299224" "0" "50" "11" "48185026" "48185026" "subst" "0" "02329" "PTPRJ_000027" "g.48185026G>A" "" "" "" "PTPRJ(NM_002843.4):c.3575G>A (p.S1192N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48163474G>A" "" "VUS" "" "0000299225" "0" "10" "11" "48185155" "48185155" "subst" "0.00443738" "02329" "PTPRJ_000028" "g.48185155T>C" "" "" "" "PTPRJ(NM_002843.4):c.3704T>C (p.I1235T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48163603T>C" "" "benign" "" "0000299226" "0" "10" "11" "48188908" "48188908" "subst" "0.00883389" "02329" "PTPRJ_000030" "g.48188908C>A" "" "" "" "PTPRJ(NM_002843.4):c.4008C>A (p.I1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48167356C>A" "" "benign" "" "0000299227" "0" "30" "11" "48002547" "48002549" "del" "0" "02329" "PTPRJ_000003" "g.48002547_48002549del" "" "" "" "PTPRJ(NM_002843.4):c.83_85delTGC (p.L28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47980995_47980997del" "" "likely benign" "" "0000299228" "0" "30" "11" "48002570" "48002570" "subst" "0" "02329" "PTPRJ_000004" "g.48002570G>A" "" "" "" "PTPRJ(NM_002843.4):c.96+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47981018G>A" "" "likely benign" "" "0000306615" "0" "30" "11" "48146678" "48146678" "subst" "0.000121854" "01943" "PTPRJ_000009" "g.48146678G>A" "" "" "" "PTPRJ(NM_002843.3):c.1033G>A (p.V345I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48125126G>A" "" "likely benign" "" "0000306616" "0" "30" "11" "48158649" "48158649" "subst" "0" "01943" "PTPRJ_000015" "g.48158649C>T" "" "" "" "PTPRJ(NM_002843.3):c.1968C>T (p.S656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48137097C>T" "" "likely benign" "" "0000544533" "0" "10" "11" "48149572" "48149572" "subst" "0.00219305" "02329" "PTPRJ_000018" "g.48149572C>T" "" "" "" "PTPRJ(NM_002843.4):c.1334C>T (p.P445L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48128020C>T" "" "benign" "" "0000544534" "0" "10" "11" "48149590" "48149590" "subst" "0.0016792" "02329" "PTPRJ_000019" "g.48149590A>G" "" "" "" "PTPRJ(NM_002843.4):c.1352A>G (p.H451R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48128038A>G" "" "benign" "" "0000544535" "0" "30" "11" "48158545" "48158545" "dup" "0" "02329" "PTPRJ_000020" "g.48158545dup" "" "" "" "PTPRJ(NM_002843.4):c.1874-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48136993dup" "" "likely benign" "" "0000544536" "0" "10" "11" "48158586" "48158586" "subst" "0.00228435" "02329" "PTPRJ_000021" "g.48158586T>A" "" "" "" "PTPRJ(NM_002843.4):c.1905T>A (p.S635R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48137034T>A" "" "benign" "" "0000544537" "0" "30" "11" "48158754" "48158754" "subst" "2.84576E-5" "01943" "PTPRJ_000022" "g.48158754A>G" "" "" "" "PTPRJ(NM_002843.3):c.2073A>G (p.S691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48137202A>G" "" "likely benign" "" "0000544538" "0" "30" "11" "48166641" "48166641" "subst" "0.00021136" "01943" "PTPRJ_000024" "g.48166641G>A" "" "" "" "PTPRJ(NM_002843.3):c.2876G>A (p.R959H), PTPRJ(NM_002843.4):c.2876G>A (p.R959H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48145089G>A" "" "likely benign" "" "0000544539" "0" "30" "11" "48170992" "48170992" "subst" "0.000564304" "01943" "PTPRJ_000025" "g.48170992A>G" "" "" "" "PTPRJ(NM_002843.3):c.3000-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48149440A>G" "" "likely benign" "" "0000578061" "0" "50" "11" "48149429" "48149429" "subst" "0" "01474" "PTPRJ_000017" "g.48149429T>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "" "0" "" "" "g.48127877T>A" "" "VUS" "" "0000862580" "0" "70" "11" "48149596" "48149596" "subst" "8.18927E-6" "01943" "PTPRJ_000031" "g.48149596G>A" "" "" "" "PTPRJ(NM_002843.3):c.1357+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889977" "0" "10" "11" "48145375" "48145375" "subst" "0.168234" "02326" "PTPRJ_000007" "g.48145375A>C" "" "" "" "PTPRJ(NM_002843.4):c.827A>C (p.Q276P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925433" "0" "30" "11" "48134465" "48134465" "subst" "0.00124327" "02326" "PTPRJ_000006" "g.48134465T>C" "" "" "" "PTPRJ(NM_002843.4):c.282T>C (p.D94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929914" "0" "10" "11" "48149572" "48149572" "subst" "0.00219305" "02326" "PTPRJ_000018" "g.48149572C>T" "" "" "" "PTPRJ(NM_002843.4):c.1334C>T (p.P445L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929915" "0" "30" "11" "48157616" "48157616" "subst" "0.000252176" "02326" "PTPRJ_000032" "g.48157616C>T" "" "" "" "PTPRJ(NM_002843.4):c.1641C>T (p.H547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929916" "0" "30" "11" "48171536" "48171536" "subst" "0.00227953" "02326" "PTPRJ_000033" "g.48171536A>G" "" "" "" "PTPRJ(NM_002843.4):c.3042-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949716" "0" "10" "11" "48149590" "48149590" "subst" "0.0016792" "02326" "PTPRJ_000019" "g.48149590A>G" "" "" "" "PTPRJ(NM_002843.4):c.1352A>G (p.H451R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949717" "0" "50" "11" "48161126" "48161126" "subst" "4.0657E-6" "02325" "PTPRJ_000034" "g.48161126T>G" "" "" "" "PTPRJ(NM_002843.4):c.2241T>G (p.N747K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999128" "0" "50" "11" "48177357" "48177357" "subst" "0" "01804" "PTPRJ_000035" "g.48177357T>G" "" "" "" "PTPRJ(NM_002843.3):c.3234T>G (p.(Asp1078Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 PTPRJ ## Count = 38 "{{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}}" "0000037586" "00025648" "50" "47" "0" "47" "0" "c.47G>A" "r.(?)" "p.(Gly16Glu)" "" "0000169444" "00025648" "70" "1873" "1" "1873" "1" "c.1873+1G>A" "r.spl?" "p.?" "" "0000248880" "00025648" "10" "827" "0" "827" "0" "c.827A>C" "r.(?)" "p.(Gln276Pro)" "" "0000250228" "00025648" "10" "2152" "16" "2152" "16" "c.2152+16A>G" "r.(=)" "p.(=)" "" "0000250466" "00025648" "30" "3230" "-4" "3230" "-4" "c.3230-4A>G" "r.spl?" "p.?" "" "0000254741" "00025648" "30" "2164" "0" "2164" "0" "c.2164A>G" "r.(?)" "p.(Met722Val)" "" "0000297500" "00025648" "10" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326Gln)" "" "0000299216" "00025648" "10" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Val372Ile)" "" "0000299217" "00025648" "30" "115" "9" "115" "9" "c.115+9C>T" "r.(=)" "p.(=)" "" "0000299218" "00025648" "30" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Val414Ile)" "" "0000299219" "00025648" "10" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Arg418His)" "" "0000299220" "00025648" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Pro511Leu)" "" "0000299222" "00025648" "30" "282" "0" "282" "0" "c.282T>C" "r.(?)" "p.(Asp94=)" "" "0000299223" "00025648" "30" "2876" "0" "2876" "0" "c.2876G>A" "r.(?)" "p.(Arg959His)" "" "0000299224" "00025648" "50" "3575" "0" "3575" "0" "c.3575G>A" "r.(?)" "p.(Ser1192Asn)" "" "0000299225" "00025648" "10" "3704" "0" "3704" "0" "c.3704T>C" "r.(?)" "p.(Ile1235Thr)" "" "0000299226" "00025648" "10" "4008" "0" "4008" "0" "c.4008C>A" "r.(?)" "p.(Ile1336=)" "" "0000299227" "00025648" "30" "83" "0" "85" "0" "c.83_85del" "r.(?)" "p.(Leu28del)" "" "0000299228" "00025648" "30" "96" "10" "96" "10" "c.96+10G>A" "r.(=)" "p.(=)" "" "0000306615" "00025648" "30" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Val345Ile)" "" "0000306616" "00025648" "30" "1968" "0" "1968" "0" "c.1968C>T" "r.(?)" "p.(Ser656=)" "" "0000544533" "00025648" "10" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Pro445Leu)" "" "0000544534" "00025648" "10" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(His451Arg)" "" "0000544535" "00025648" "30" "1874" "-10" "1874" "-10" "c.1874-10dup" "r.(=)" "p.(=)" "" "0000544536" "00025648" "10" "1905" "0" "1905" "0" "c.1905T>A" "r.(?)" "p.(Ser635Arg)" "" "0000544537" "00025648" "30" "2073" "0" "2073" "0" "c.2073A>G" "r.(?)" "p.(Ser691=)" "" "0000544538" "00025648" "30" "2876" "0" "2876" "0" "c.2876G>A" "r.(?)" "p.(Arg959His)" "" "0000544539" "00025648" "30" "3000" "-7" "3000" "-7" "c.3000-7A>G" "r.(=)" "p.(=)" "" "0000578061" "00025648" "50" "1191" "0" "1191" "0" "c.1191T>A" "r.(?)" "p.(Tyr397*)" "" "0000862580" "00025648" "70" "1357" "1" "1357" "1" "c.1357+1G>A" "r.spl?" "p.?" "" "0000889977" "00025648" "10" "827" "0" "827" "0" "c.827A>C" "r.(?)" "p.(Gln276Pro)" "" "0000925433" "00025648" "30" "282" "0" "282" "0" "c.282T>C" "r.(?)" "p.(Asp94=)" "" "0000929914" "00025648" "10" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Pro445Leu)" "" "0000929915" "00025648" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(=)" "" "0000929916" "00025648" "30" "3042" "-6" "3042" "-6" "c.3042-6A>G" "r.(=)" "p.(=)" "" "0000949716" "00025648" "10" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(His451Arg)" "" "0000949717" "00025648" "50" "2241" "0" "2241" "0" "c.2241T>G" "r.(?)" "p.(Asn747Lys)" "" "0000999128" "00025648" "50" "3234" "0" "3234" "0" "c.3234T>G" "r.(?)" "p.(Asp1078Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000017582" "0000037586" "0000104510" "0000169444" "0000249309" "0000578061"