### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KDR) # 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}}" "KDR" "kinase insert domain receptor (a type III receptor tyrosine kinase)" "4" "q11-q12" "unknown" "NG_012004.1" "UD_132118645047" "" "https://www.LOVD.nl/KDR" "" "1" "6307" "3791" "191306" "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/KDR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-12 11:43:58" "00000" "2024-10-29 21:08:56" ## 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}}" "00010466" "KDR" "kinase insert domain receptor (a type III receptor tyrosine kinase)" "001" "NM_002253.2" "" "NP_002244.1" "" "" "" "-302" "5753" "4071" "55991762" "55944426" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02415" "HCI" "hemangioma, capillary infantile (HCI)" "AD" "602089" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-12 11:46:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KDR" "02415" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00293629" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293630" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00307259" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 66" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00293629" "00198" "00293630" "00198" "00307257" "01544" "00307259" "01544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01544, 02415 ## Count = 2 "{{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}}" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "0000233063" "01544" "00307259" "03753" "Unknown" "" "Unilateral" "" "00y07m" "HP:0000486" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294797" "00293629" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294798" "00293630" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308401" "00307259" "1" "03753" "03753" "2020-08-07 03:41:08" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 43 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000246229" "0" "10" "4" "55948108" "55948108" "subst" "0.99862" "02330" "KDR_000002" "g.55948108A>G" "" "" "" "KDR(NM_002253.4):c.3848+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55081941A>G" "" "benign" "" "0000246250" "0" "10" "4" "55962433" "55962433" "subst" "0.000866664" "02330" "KDR_000006" "g.55962433A>G" "" "" "" "KDR(NM_002253.4):c.2691T>C (p.N897=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55096266A>G" "" "benign" "" "0000248432" "0" "10" "4" "55948108" "55948108" "subst" "0.99862" "02325" "KDR_000002" "g.55948108A>G" "" "" "" "KDR(NM_002253.4):c.3848+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55081941A>G" "" "benign" "" "0000278469" "0" "10" "4" "55991461" "55991461" "subst" "0.0367145" "02330" "KDR_000012" "g.55991461C>A" "" "" "" "KDR(NM_002253.4):c.-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55125294C>A" "" "benign" "" "0000278470" "0" "10" "4" "55972974" "55972974" "subst" "0.222166" "02330" "KDR_000007" "g.55972974T>A" "" "" "" "KDR(NM_002253.4):c.1416A>T (p.Q472H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55106807T>A" "" "benign" "" "0000278471" "0" "10" "4" "55964401" "55964401" "subst" "8.94673E-5" "02330" "KDR_000010" "g.55964401G>A" "" "" "" "KDR(NM_002253.4):c.2412C>T (p.I804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55098234G>A" "" "benign" "" "0000278472" "0" "10" "4" "55956225" "55956225" "subst" "0.00279405" "02330" "KDR_000004" "g.55956225C>T" "" "" "" "KDR(NM_002253.4):c.3090G>A (p.A1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55090058C>T" "" "benign" "" "0000278473" "0" "30" "4" "55955112" "55955112" "subst" "2.03278E-5" "02330" "KDR_000009" "g.55955112C>T" "" "" "" "KDR(NM_002253.4):c.3433G>A (p.G1145R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55088945C>T" "" "likely benign" "" "0000278474" "0" "10" "4" "55955023" "55955023" "subst" "0.0153579" "02330" "KDR_000003" "g.55955023G>A" "" "" "" "KDR(NM_002253.4):c.3510+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55088856G>A" "" "benign" "" "0000278475" "0" "10" "4" "55946171" "55946171" "subst" "0.0213927" "02330" "KDR_000001" "g.55946171G>A" "" "" "" "KDR(NM_002253.4):c.4008C>T (p.T1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55080004G>A" "" "benign" "" "0000278476" "0" "10" "4" "55979558" "55979558" "subst" "0.104825" "02330" "KDR_000008" "g.55979558C>T" "" "" "" "KDR(NM_002253.4):c.889G>A (p.V297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55113391C>T" "" "benign" "" "0000329934" "0" "50" "4" "55958884" "55958884" "subst" "0" "01804" "KDR_000005" "g.55958884G>C" "" "" "" "KDR(NM_002253.2):c.2972-3C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55092717G>C" "" "VUS" "" "0000522676" "0" "30" "4" "55961072" "55961072" "subst" "2.03338E-5" "02330" "KDR_000013" "g.55961072A>C" "" "" "" "KDR(NM_002253.4):c.2868T>G (p.P956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55094905A>C" "" "likely benign" "" "0000522677" "0" "30" "4" "55964925" "55964925" "subst" "0.00115532" "02330" "KDR_000014" "g.55964925G>A" "" "" "" "KDR(NM_002253.4):c.2312C>T (p.T771M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55098758G>A" "" "likely benign" "" "0000522678" "0" "10" "4" "55968053" "55968053" "subst" "0.358801" "02330" "KDR_000015" "g.55968053A>C" "" "" "" "KDR(NM_002253.4):c.2266+11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55101886A>C" "" "benign" "" "0000522679" "0" "30" "4" "55968597" "55968597" "subst" "0.00323696" "02330" "KDR_000016" "g.55968597G>A" "" "" "" "KDR(NM_002253.4):c.2066C>T (p.T689M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55102430G>A" "" "likely benign" "" "0000522680" "0" "30" "4" "55971029" "55971029" "subst" "2.4416E-5" "01943" "KDR_000017" "g.55971029G>A" "" "" "" "KDR(NM_002253.3):c.1768C>T (p.P590S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55104862G>A" "" "likely benign" "" "0000522681" "0" "10" "4" "55972946" "55972946" "subst" "0.0230891" "02330" "KDR_000018" "g.55972946A>G" "" "" "" "KDR(NM_002253.4):c.1444T>C (p.C482R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55106779A>G" "" "benign" "" "0000522682" "0" "30" "4" "55976883" "55976883" "subst" "0.000276216" "02330" "KDR_000019" "g.55976883C>T" "" "" "" "KDR(NM_002253.4):c.1029G>A (p.T343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55110716C>T" "" "likely benign" "" "0000522683" "0" "10" "4" "55976959" "55976960" "dup" "0" "02330" "KDR_000020" "g.55976959_55976960dup" "" "" "" "KDR(NM_002253.4):c.977-14_977-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55110792_55110793dup" "" "benign" "" "0000522684" "0" "10" "4" "55976960" "55976960" "del" "0" "02330" "KDR_000021" "g.55976960del" "" "" "" "KDR(NM_002253.4):c.977-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55110793del" "" "benign" "" "0000522685" "0" "10" "4" "55976960" "55976960" "dup" "0" "02330" "KDR_000022" "g.55976960dup" "" "" "" "KDR(NM_002253.3):c.977-13dupT, KDR(NM_002253.4):c.977-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55110793dup" "" "benign" "" "0000651486" "1" "90" "4" "55955106" "55955106" "subst" "9.35073E-5" "03575" "KDR_000023" "g.55955106G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121917766}" "Germline" "" "rs121917766" "0" "" "" "g.55088939G>A" "" "pathogenic" "" "0000651487" "1" "50" "4" "55981531" "55981531" "subst" "0.000695359" "03575" "KDR_000024" "g.55981531C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 5 heterozygous, no homozygous; {DB:CLININrs35636987}" "Germline" "" "rs35636987" "0" "" "" "g.55115364C>T" "" "VUS" "" "0000677290" "0" "30" "4" "55948227" "55948227" "subst" "2.43922E-5" "02330" "KDR_000025" "g.55948227G>A" "" "" "" "KDR(NM_002253.4):c.3763-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682733" "0" "70" "4" "55991393" "55991393" "subst" "0" "03753" "KDR_000027" "g.55991393C>T" "0.096" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682759" "0" "70" "4" "55961101" "55961101" "subst" "0" "03753" "KDR_000026" "g.55961101G>A" "0.048" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000719927" "0" "30" "4" "55973932" "55973932" "subst" "0.00151736" "02330" "KDR_000028" "g.55973932A>C" "" "" "" "KDR(NM_002253.3):c.1384T>G (p.L462V), KDR(NM_002253.4):c.1384T>G (p.L462V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850630" "0" "10" "4" "55976739" "55976739" "subst" "0.00250884" "02330" "KDR_000030" "g.55976739A>G" "" "" "" "KDR(NM_002253.4):c.1092-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850631" "0" "10" "4" "55984925" "55984925" "subst" "0.00190899" "02330" "KDR_000031" "g.55984925A>G" "" "" "" "KDR(NM_002253.4):c.204T>C (p.S68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859453" "0" "50" "4" "55948187" "55948187" "subst" "0" "01943" "KDR_000029" "g.55948187T>C" "" "" "" "KDR(NM_002253.3):c.3784A>G (p.M1262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886298" "0" "30" "4" "55946227" "55946227" "subst" "4.4678E-5" "02325" "KDR_000032" "g.55946227C>A" "" "" "" "KDR(NM_002253.4):c.3952G>T (p.V1318L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886299" "0" "70" "4" "55956233" "55956233" "subst" "0" "02327" "KDR_000033" "g.55956233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924119" "0" "50" "4" "55960975" "55960975" "subst" "0" "02325" "KDR_000034" "g.55960975C>T" "" "" "" "KDR(NM_002253.4):c.2965G>A (p.E989K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924120" "0" "30" "4" "55979552" "55979552" "subst" "0.000105645" "02325" "KDR_000035" "g.55979552G>A" "" "" "" "KDR(NM_002253.4):c.895C>T (p.R299W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948331" "0" "30" "4" "55973932" "55973932" "subst" "0.00151736" "02326" "KDR_000028" "g.55973932A>C" "" "" "" "KDR(NM_002253.3):c.1384T>G (p.L462V), KDR(NM_002253.4):c.1384T>G (p.L462V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963194" "0" "10" "4" "55976941" "55976941" "dup" "0" "02329" "KDR_000036" "g.55976941dup" "" "" "" "KDR(NM_002253.4):c.977-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976311" "0" "30" "4" "55955592" "55955592" "subst" "0.000305733" "01804" "KDR_000037" "g.55955592C>T" "" "" "" "KDR(NM_002253.3):c.3353G>A (p.(Arg1118Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976312" "0" "30" "4" "55972029" "55972029" "subst" "0.0014872" "01804" "KDR_000038" "g.55972029C>T" "" "" "" "KDR(NM_002253.3):c.1615G>A (p.(Gly539Arg)), KDR(NM_002253.4):c.1615G>A (p.G539R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994336" "0" "30" "4" "55972029" "55972029" "subst" "0.0014872" "02325" "KDR_000038" "g.55972029C>T" "" "" "" "KDR(NM_002253.3):c.1615G>A (p.(Gly539Arg)), KDR(NM_002253.4):c.1615G>A (p.G539R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994337" "0" "10" "4" "55976960" "55976960" "dup" "0" "02326" "KDR_000022" "g.55976960dup" "" "" "" "KDR(NM_002253.3):c.977-13dupT, KDR(NM_002253.4):c.977-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013971" "0" "10" "4" "55955044" "55955044" "subst" "0.000414607" "02330" "KDR_000039" "g.55955044A>G" "" "" "" "KDR(NM_002253.4):c.3501T>C (p.N1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013972" "0" "10" "4" "55976947" "55976947" "subst" "0" "02330" "KDR_000040" "g.55976947T>A" "" "" "" "KDR(NM_002253.4):c.977-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 KDR ## Count = 43 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000246229" "00010466" "10" "3848" "15" "3848" "15" "c.3848+15T>C" "r.(=)" "p.(=)" "" "0000246250" "00010466" "10" "2691" "0" "2691" "0" "c.2691T>C" "r.(?)" "p.(Asn897=)" "" "0000248432" "00010466" "10" "3848" "15" "3848" "15" "c.3848+15T>C" "r.(=)" "p.(=)" "" "0000278469" "00010466" "10" "-1" "0" "-1" "0" "c.-1G>T" "r.(?)" "p.(=)" "" "0000278470" "00010466" "10" "1416" "0" "1416" "0" "c.1416A>T" "r.(?)" "p.(Gln472His)" "" "0000278471" "00010466" "10" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(Ile804=)" "" "0000278472" "00010466" "10" "3090" "0" "3090" "0" "c.3090G>A" "r.(?)" "p.(Ala1030=)" "" "0000278473" "00010466" "30" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Gly1145Arg)" "" "0000278474" "00010466" "10" "3510" "12" "3510" "12" "c.3510+12C>T" "r.(=)" "p.(=)" "" "0000278475" "00010466" "10" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Thr1336=)" "" "0000278476" "00010466" "10" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Val297Ile)" "" "0000329934" "00010466" "50" "2972" "-3" "2972" "-3" "c.2972-3C>G" "r.spl?" "p.?" "" "0000522676" "00010466" "30" "2868" "0" "2868" "0" "c.2868T>G" "r.(?)" "p.(Pro956=)" "" "0000522677" "00010466" "30" "2312" "0" "2312" "0" "c.2312C>T" "r.(?)" "p.(Thr771Met)" "" "0000522678" "00010466" "10" "2266" "11" "2266" "11" "c.2266+11T>G" "r.(=)" "p.(=)" "" "0000522679" "00010466" "30" "2066" "0" "2066" "0" "c.2066C>T" "r.(?)" "p.(Thr689Met)" "" "0000522680" "00010466" "30" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Pro590Ser)" "" "0000522681" "00010466" "10" "1444" "0" "1444" "0" "c.1444T>C" "r.(?)" "p.(Cys482Arg)" "" "0000522682" "00010466" "30" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Thr343=)" "" "0000522683" "00010466" "10" "977" "-14" "977" "-13" "c.977-14_977-13dup" "r.(=)" "p.(=)" "" "0000522684" "00010466" "10" "977" "-13" "977" "-13" "c.977-13del" "r.(=)" "p.(=)" "" "0000522685" "00010466" "10" "977" "-13" "977" "-13" "c.977-13dup" "r.(=)" "p.(=)" "" "0000651486" "00010466" "90" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Pro1147Ser)" "" "0000651487" "00010466" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Val136Met)" "" "0000677290" "00010466" "30" "3763" "-19" "3763" "-19" "c.3763-19C>T" "r.(=)" "p.(=)" "" "0000682733" "00010466" "70" "67" "1" "67" "1" "c.67+1G>A" "r.spl?" "p.?" "" "0000682759" "00010466" "70" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Gln947*)" "" "0000719927" "00010466" "30" "1384" "0" "1384" "0" "c.1384T>G" "r.(?)" "p.(Leu462Val)" "" "0000850630" "00010466" "10" "1092" "-6" "1092" "-6" "c.1092-6T>C" "r.(=)" "p.(=)" "" "0000850631" "00010466" "10" "204" "0" "204" "0" "c.204T>C" "r.(?)" "p.(Ser68=)" "" "0000859453" "00010466" "50" "3784" "0" "3784" "0" "c.3784A>G" "r.(?)" "p.(Met1262Val)" "" "0000886298" "00010466" "30" "3952" "0" "3952" "0" "c.3952G>T" "r.(?)" "p.(Val1318Leu)" "" "0000886299" "00010466" "70" "3082" "0" "3082" "0" "c.3082G>A" "r.(?)" "p.(Asp1028Asn)" "" "0000924119" "00010466" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Glu989Lys)" "" "0000924120" "00010466" "30" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000948331" "00010466" "30" "1384" "0" "1384" "0" "c.1384T>G" "r.(?)" "p.(Leu462Val)" "" "0000963194" "00010466" "10" "977" "-5" "977" "-5" "c.977-5dup" "r.spl?" "p.?" "" "0000976311" "00010466" "30" "3353" "0" "3353" "0" "c.3353G>A" "r.(?)" "p.(Arg1118Gln)" "" "0000976312" "00010466" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Arg)" "" "0000994336" "00010466" "30" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Gly539Arg)" "" "0000994337" "00010466" "10" "977" "-13" "977" "-13" "c.977-13dup" "r.(=)" "p.(=)" "" "0001013971" "00010466" "10" "3501" "0" "3501" "0" "c.3501T>C" "r.(?)" "p.(=)" "" "0001013972" "00010466" "10" "977" "-12" "977" "-12" "c.977-12A>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000294797" "0000651486" "0000294798" "0000651487" "0000308399" "0000682733" "0000308401" "0000682759"