### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LDLRAP1) # 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}}" "LDLRAP1" "low density lipoprotein receptor adaptor protein 1" "1" "p36-p35" "unknown" "LRG_276" "UD_130069086628" "" "http://www.LOVD.nl/LDLRAP1" "British Heart Foundation \r\n" "1" "18640" "26119" "605747" "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/LDLRAP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-03-14 00:00:00" "00006" "2016-11-25 14:10:55" "00000" "2025-07-08 13:22:38" ## 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}}" "00011043" "LDLRAP1" "low density lipoprotein receptor adaptor protein 1" "001" "NM_015627.2" "" "NP_056442.2" "" "" "" "-114" "2821" "927" "25870076" "25895377" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00165" "FHCL4" "hypercholesterolemia, familial, type 4" "AR" "603813" "" "" "" "00006" "2013-07-01 16:16:04" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LDLRAP1" "00165" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00165 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 163 "{{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}}" "0000245423" "0" "10" "1" "25890189" "25890189" "subst" "0.549205" "02330" "LDLRAP1_000022" "g.25890189A>G" "" "" "" "LDLRAP1(NM_015627.3):c.654A>G (p.T218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563698A>G" "" "benign" "" "0000245509" "0" "10" "1" "25880280" "25880280" "del" "0" "02330" "LDLRAP1_000002" "g.25880280del" "" "" "" "LDLRAP1(NM_015627.3):c.89-133delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25553789del" "" "benign" "" "0000245510" "0" "10" "1" "25880396" "25880396" "subst" "1.2274E-5" "02330" "LDLRAP1_000003" "g.25880396A>G" "" "" "" "LDLRAP1(NM_015627.3):c.89-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25553905A>G" "" "benign" "" "0000245533" "0" "30" "1" "25883712" "25883712" "subst" "7.71743E-5" "02330" "LDLRAP1_000008" "g.25883712A>G" "" "" "" "LDLRAP1(NM_015627.3):c.413A>G (p.N138S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557221A>G" "" "likely benign" "" "0000248351" "0" "10" "1" "25890189" "25890189" "subst" "0.549205" "02325" "LDLRAP1_000022" "g.25890189A>G" "" "" "" "LDLRAP1(NM_015627.3):c.654A>G (p.T218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563698A>G" "" "benign" "" "0000279052" "0" "10" "1" "25870173" "25870173" "subst" "0" "02330" "LDLRAP1_000001" "g.25870173G>T" "" "" "" "LDLRAP1(NM_015627.3):c.-17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25543682G>T" "" "benign" "" "0000279053" "0" "10" "1" "25880520" "25880520" "subst" "0" "02330" "LDLRAP1_000004" "g.25880520C>T" "" "" "" "LDLRAP1(NM_015627.3):c.196C>T (p.L66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25554029C>T" "" "benign" "" "0000279054" "0" "10" "1" "25881403" "25881403" "subst" "0.000771737" "02330" "LDLRAP1_000005" "g.25881403G>A" "" "" "" "LDLRAP1(NM_015627.3):c.284G>A (p.R95Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25554912G>A" "" "benign" "" "0000279055" "0" "30" "1" "25883695" "25883695" "subst" "0.000463034" "02330" "LDLRAP1_000006" "g.25883695C>T" "" "" "" "LDLRAP1(NM_015627.3):c.396C>T (p.I132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557204C>T" "" "likely benign" "" "0000279056" "0" "50" "1" "25883696" "25883696" "subst" "2.43706E-5" "02330" "LDLRAP1_000007" "g.25883696G>A" "" "" "" "LDLRAP1(NM_015627.3):c.397G>A (p.A133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557205G>A" "" "VUS" "" "0000279057" "0" "10" "1" "25883728" "25883728" "subst" "1.21883E-5" "02330" "LDLRAP1_000009" "g.25883728C>T" "" "" "" "LDLRAP1(NM_015627.3):c.429C>T (p.C143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557237C>T" "" "benign" "" "0000279058" "0" "10" "1" "25883731" "25883731" "subst" "0.000288456" "02330" "LDLRAP1_000010" "g.25883731C>T" "" "" "" "LDLRAP1(NM_015627.3):c.432C>T (p.H144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557240C>T" "" "benign" "" "0000279059" "0" "90" "1" "25883750" "25883750" "subst" "0.000239874" "02330" "LDLRAP1_000011" "g.25883750C>T" "" "" "" "LDLRAP1(NM_015627.3):c.451C>T (p.R151W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25557259C>T" "" "pathogenic" "" "0000279060" "0" "90" "1" "25889177" "25889177" "subst" "4.06121E-6" "02330" "LDLRAP1_000012" "g.25889177G>A" "" "" "" "LDLRAP1(NM_015627.3):c.502G>A (p.A168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25562686G>A" "" "pathogenic" "" "0000279061" "0" "90" "1" "25889191" "25889191" "subst" "0" "02330" "LDLRAP1_000013" "g.25889191G>T" "" "" "" "LDLRAP1(NM_015627.3):c.516G>T (p.W172C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25562700G>T" "" "pathogenic" "" "0000279062" "0" "10" "1" "25889571" "25889571" "subst" "8.12282E-6" "02330" "LDLRAP1_000014" "g.25889571G>A" "" "" "" "LDLRAP1(NM_015627.3):c.543G>A (p.K181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563080G>A" "" "benign" "" "0000279063" "0" "50" "1" "25889614" "25889614" "subst" "4.07083E-6" "02330" "LDLRAP1_000015" "g.25889614C>A" "" "" "" "LDLRAP1(NM_015627.3):c.586C>A (p.R196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563123C>A" "" "VUS" "" "0000279064" "0" "10" "1" "25889632" "25889632" "subst" "0.505519" "02330" "LDLRAP1_000016" "g.25889632T>C" "" "" "" "LDLRAP1(NM_015627.3):c.604T>C (p.S202P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563141T>C" "" "benign" "" "0000279065" "0" "90" "1" "25889633" "25889633" "subst" "0.00114481" "02330" "LDLRAP1_000017" "g.25889633C>A" "" "" "" "LDLRAP1(NM_015627.2):c.605C>A (p.S202Y), LDLRAP1(NM_015627.3):c.605C>A (p.S202Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563142C>A" "" "pathogenic" "" "0000279066" "0" "10" "1" "25889656" "25889656" "subst" "4.07574E-6" "02330" "LDLRAP1_000018" "g.25889656C>T" "" "" "" "LDLRAP1(NM_015627.3):c.616+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563165C>T" "" "benign" "" "0000279067" "0" "90" "1" "25890139" "25890139" "subst" "0" "02330" "LDLRAP1_000019" "g.25890139G>A" "" "" "" "LDLRAP1(NM_015627.3):c.617-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563648G>A" "" "pathogenic" "" "0000279068" "0" "30" "1" "25890157" "25890157" "subst" "0.00017951" "02330" "LDLRAP1_000020" "g.25890157G>A" "" "" "" "LDLRAP1(NM_015627.3):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563666G>A" "" "likely benign" "" "0000279069" "0" "30" "1" "25890188" "25890188" "subst" "0.0021119" "02330" "LDLRAP1_000021" "g.25890188C>T" "" "" "" "LDLRAP1(NM_015627.3):c.653C>T (p.T218I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563697C>T" "" "likely benign" "" "0000279070" "0" "10" "1" "25890207" "25890207" "subst" "0.00143612" "02330" "LDLRAP1_000023" "g.25890207C>T" "" "" "" "LDLRAP1(NM_015627.3):c.672C>T (p.S224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563716C>T" "" "benign" "" "0000279071" "0" "10" "1" "25890210" "25890210" "subst" "4.06868E-6" "02330" "LDLRAP1_000024" "g.25890210G>A" "" "" "" "LDLRAP1(NM_015627.3):c.675G>A (p.T225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25563719G>A" "" "benign" "" "0000279072" "0" "50" "1" "25891660" "25891660" "subst" "0.000134" "02330" "LDLRAP1_000025" "g.25891660C>A" "" "" "" "LDLRAP1(NM_015627.3):c.748-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25565169C>A" "" "VUS" "" "0000279073" "0" "30" "1" "25893406" "25893406" "subst" "4.09165E-6" "02330" "LDLRAP1_000026" "g.25893406G>T" "" "" "" "LDLRAP1(NM_015627.3):c.850G>T (p.A284S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25566915G>T" "" "likely benign" "" "0000506847" "0" "10" "1" "25870018" "25870018" "subst" "0" "02330" "LDLRAP1_000027" "g.25870018C>G" "" "" "" "LDLRAP1(NM_015627.3):c.-172C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543527C>G" "" "benign" "" "0000506848" "0" "30" "1" "25870175" "25870175" "subst" "0" "02330" "LDLRAP1_000028" "g.25870175C>T" "" "" "" "LDLRAP1(NM_015627.3):c.-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543684C>T" "" "likely benign" "" "0000506849" "0" "70" "1" "25870191" "25870191" "subst" "0" "02330" "LDLRAP1_000029" "g.25870191T>G" "" "" "" "LDLRAP1(NM_015627.3):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543700T>G" "" "likely pathogenic" "" "0000506850" "0" "90" "1" "25870254" "25870254" "subst" "0" "02330" "LDLRAP1_000030" "g.25870254G>A" "" "" "" "LDLRAP1(NM_015627.3):c.65G>A (p.W22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543763G>A" "" "pathogenic" "" "0000506851" "0" "50" "1" "25870260" "25870260" "subst" "0" "02330" "LDLRAP1_000031" "g.25870260G>T" "" "" "" "LDLRAP1(NM_015627.3):c.71G>T (p.G24V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543769G>T" "" "VUS" "" "0000506852" "0" "90" "1" "25870260" "25870260" "dup" "0" "02330" "LDLRAP1_000032" "g.25870260dup" "" "" "" "LDLRAP1(NM_015627.3):c.71dupG (p.G25Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543769dup" "" "pathogenic" "" "0000506853" "0" "30" "1" "25870264" "25870264" "subst" "0" "02330" "LDLRAP1_000033" "g.25870264T>A" "" "" "" "LDLRAP1(NM_015627.3):c.75T>A (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543773T>A" "" "likely benign" "" "0000506854" "0" "30" "1" "25870285" "25870285" "subst" "0" "02330" "LDLRAP1_000034" "g.25870285T>A" "" "" "" "LDLRAP1(NM_015627.3):c.88+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543794T>A" "" "likely benign" "" "0000506855" "0" "30" "1" "25870307" "25870311" "dup" "0" "02330" "LDLRAP1_000035" "g.25870307_25870311dup" "" "" "" "LDLRAP1(NM_015627.3):c.88+30_88+34dupCCGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25543816_25543820dup" "" "likely benign" "" "0000506856" "0" "10" "1" "25880119" "25880119" "subst" "0" "02330" "LDLRAP1_000036" "g.25880119G>C" "" "" "" "LDLRAP1(NM_015627.3):c.89-294G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25553628G>C" "" "benign" "" "0000506857" "0" "30" "1" "25880279" "25880280" "del" "0" "02330" "LDLRAP1_000037" "g.25880279_25880280del" "" "" "" "LDLRAP1(NM_015627.3):c.89-134_89-133delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25553788_25553789del" "" "likely benign" "" "0000506858" "0" "70" "1" "25880440" "25880440" "subst" "2.03429E-5" "02330" "LDLRAP1_000038" "g.25880440G>A" "" "" "" "LDLRAP1(NM_015627.3):c.116G>A (p.R39Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25553949G>A" "" "likely pathogenic" "" "0000506859" "0" "30" "1" "25880522" "25880522" "subst" "0" "02330" "LDLRAP1_000039" "g.25880522G>T" "" "" "" "LDLRAP1(NM_015627.3):c.198G>T (p.L66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25554031G>T" "" "likely benign" "" "0000506860" "0" "30" "1" "25880528" "25880528" "subst" "2.84703E-5" "02330" "LDLRAP1_000040" "g.25880528C>T" "" "" "" "LDLRAP1(NM_015627.3):c.204C>T (p.A68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25554037C>T" "" "likely benign" "" "0000506861" "0" "30" "1" "25880531" "25880531" "subst" "1.22032E-5" "02330" "LDLRAP1_000041" "g.25880531C>T" "" "" "" "LDLRAP1(NM_015627.3):c.207C>T (p.A69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25554040C>T" "" "likely benign" "" "0000506862" "0" "50" "1" "25880547" "25880547" "subst" "8.14717E-6" "02330" "LDLRAP1_000042" "g.25880547G>A" "" "" "" "LDLRAP1(NM_015627.3):c.223G>A (p.V75M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25554056G>A" "" "VUS" "" "0000506863" "0" "50" "1" "25881468" "25881468" "subst" "0" "02330" "LDLRAP1_000043" "g.25881468G>C" "" "" "" "LDLRAP1(NM_015627.3):c.344+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25554977G>C" "" "VUS" "" "0000506864" "0" "10" "1" "25883311" "25883311" "subst" "0" "02330" "LDLRAP1_000044" "g.25883311A>C" "" "" "" "LDLRAP1(NM_015627.3):c.345-333A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25556820A>C" "" "benign" "" "0000506865" "0" "30" "1" "25883695" "25883695" "subst" "0.000463034" "02325" "LDLRAP1_000006" "g.25883695C>T" "" "" "" "LDLRAP1(NM_015627.3):c.396C>T (p.I132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557204C>T" "" "likely benign" "" "0000506866" "0" "90" "1" "25883705" "25883705" "subst" "0" "02330" "LDLRAP1_000045" "g.25883705C>T" "" "" "" "LDLRAP1(NM_015627.3):c.406C>T (p.Q136*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557214C>T" "" "pathogenic" "" "0000506867" "0" "30" "1" "25883722" "25883722" "subst" "0.000142172" "02330" "LDLRAP1_000046" "g.25883722C>T" "" "" "" "LDLRAP1(NM_015627.3):c.423C>T (p.L141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557231C>T" "" "likely benign" "" "0000506868" "0" "70" "1" "25883739" "25883739" "subst" "0" "02330" "LDLRAP1_000047" "g.25883739T>C" "" "" "" "LDLRAP1(NM_015627.3):c.440T>C (p.L147P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557248T>C" "" "likely pathogenic" "" "0000506869" "0" "50" "1" "25883742" "25883742" "subst" "0" "02330" "LDLRAP1_000048" "g.25883742G>C" "" "" "" "LDLRAP1(NM_015627.3):c.443G>C (p.C148S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557251G>C" "" "VUS" "" "0000506870" "0" "30" "1" "25883772" "25883772" "dup" "0" "02330" "LDLRAP1_000049" "g.25883772dup" "" "" "" "LDLRAP1(NM_015627.3):c.459+14dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557281dup" "" "likely benign" "" "0000506871" "0" "10" "1" "25889345" "25889346" "del" "0" "02330" "LDLRAP1_000050" "g.25889345_25889346del" "" "" "" "LDLRAP1(NM_015627.3):c.532+138_532+139delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25562854_25562855del" "" "benign" "" "0000506872" "0" "10" "1" "25889422" "25889422" "subst" "0" "02330" "LDLRAP1_000051" "g.25889422C>T" "" "" "" "LDLRAP1(NM_015627.3):c.533-139C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25562931C>T" "" "benign" "" "0000506873" "0" "50" "1" "25889592" "25889592" "subst" "8.12651E-6" "02330" "LDLRAP1_000052" "g.25889592G>C" "" "" "" "LDLRAP1(NM_015627.3):c.564G>C (p.E188D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563101G>C" "" "VUS" "" "0000506874" "0" "50" "1" "25889608" "25889608" "subst" "4.06997E-6" "02330" "LDLRAP1_000053" "g.25889608G>A" "" "" "" "LDLRAP1(NM_015627.3):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563117G>A" "" "VUS" "" "0000506875" "0" "30" "1" "25889614" "25889614" "subst" "4.07083E-5" "02330" "LDLRAP1_000054" "g.25889614C>T" "" "" "" "LDLRAP1(NM_015627.3):c.586C>T (p.R196C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563123C>T" "" "likely benign" "" "0000506876" "0" "30" "1" "25889672" "25889672" "subst" "0.485375" "02330" "LDLRAP1_000055" "g.25889672G>A" "" "" "" "LDLRAP1(NM_015627.3):c.616+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563181G>A" "" "likely benign" "" "0000506877" "0" "10" "1" "25889917" "25889917" "subst" "0" "02330" "LDLRAP1_000056" "g.25889917T>C" "" "" "" "LDLRAP1(NM_015627.3):c.617-235T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563426T>C" "" "benign" "" "0000506878" "0" "10" "1" "25890050" "25890050" "subst" "0" "02330" "LDLRAP1_000057" "g.25890050A>G" "" "" "" "LDLRAP1(NM_015627.3):c.617-102A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563559A>G" "" "benign" "" "0000506879" "0" "70" "1" "25890138" "25890138" "subst" "0" "02330" "LDLRAP1_000058" "g.25890138C>A" "" "" "" "LDLRAP1(NM_015627.3):c.617-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563647C>A" "" "likely pathogenic" "" "0000506880" "0" "50" "1" "25890155" "25890155" "subst" "0" "02330" "LDLRAP1_000059" "g.25890155T>C" "" "" "" "LDLRAP1(NM_015627.3):c.620T>C (p.V207A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563664T>C" "" "VUS" "" "0000506881" "0" "30" "1" "25890246" "25890246" "subst" "0.000187474" "02330" "LDLRAP1_000060" "g.25890246G>A" "" "" "" "LDLRAP1(NM_015627.3):c.711G>A (p.P237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563755G>A" "" "likely benign" "" "0000506882" "0" "10" "1" "25890247" "25890247" "subst" "0.033467" "02330" "LDLRAP1_000061" "g.25890247C>T" "" "" "" "LDLRAP1(NM_015627.3):c.712C>T (p.R238W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563756C>T" "" "benign" "" "0000506883" "0" "10" "1" "25891361" "25891361" "subst" "0" "02330" "LDLRAP1_000062" "g.25891361G>A" "" "" "" "LDLRAP1(NM_015627.3):c.748-303G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25564870G>A" "" "benign" "" "0000506884" "0" "70" "1" "25891687" "25891687" "subst" "0" "02330" "LDLRAP1_000063" "g.25891687A>C" "" "" "" "LDLRAP1(NM_015627.3):c.771A>C (p.E257D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565196A>C" "" "likely pathogenic" "" "0000506885" "0" "50" "1" "25891697" "25891697" "subst" "0" "02330" "LDLRAP1_000064" "g.25891697A>G" "" "" "" "LDLRAP1(NM_015627.3):c.781A>G (p.R261G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565206A>G" "" "VUS" "" "0000506886" "0" "10" "1" "25891959" "25891959" "subst" "0" "02330" "LDLRAP1_000065" "g.25891959G>A" "" "" "" "LDLRAP1(NM_015627.3):c.782+261G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565468G>A" "" "benign" "" "0000506887" "0" "10" "1" "25891971" "25891971" "subst" "0" "02330" "LDLRAP1_000066" "g.25891971C>T" "" "" "" "LDLRAP1(NM_015627.3):c.782+273C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565480C>T" "" "benign" "" "0000506888" "0" "10" "1" "25892049" "25892049" "del" "0" "02330" "LDLRAP1_000067" "g.25892049del" "" "" "" "LDLRAP1(NM_015627.3):c.782+351delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565558del" "" "benign" "" "0000506889" "0" "10" "1" "25893221" "25893221" "subst" "0" "02330" "LDLRAP1_000068" "g.25893221G>T" "" "" "" "LDLRAP1(NM_015627.3):c.783-118G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566730G>T" "" "benign" "" "0000506890" "0" "10" "1" "25893242" "25893242" "subst" "0" "02330" "LDLRAP1_000069" "g.25893242T>C" "" "" "" "LDLRAP1(NM_015627.3):c.783-97T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566751T>C" "" "benign" "" "0000506891" "0" "10" "1" "25893243" "25893243" "subst" "0" "02330" "LDLRAP1_000070" "g.25893243G>A" "" "" "" "LDLRAP1(NM_015627.3):c.783-96G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566752G>A" "" "benign" "" "0000506892" "0" "30" "1" "25893321" "25893321" "subst" "0" "02330" "LDLRAP1_000071" "g.25893321C>T" "" "" "" "LDLRAP1(NM_015627.3):c.783-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566830C>T" "" "likely benign" "" "0000506893" "0" "30" "1" "25893367" "25893367" "subst" "8.3002E-5" "02330" "LDLRAP1_000072" "g.25893367G>A" "" "" "" "LDLRAP1(NM_015627.3):c.811G>A (p.V271I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566876G>A" "" "likely benign" "" "0000506894" "0" "30" "1" "25893406" "25893406" "subst" "0.000135025" "02330" "LDLRAP1_000073" "g.25893406G>A" "" "" "" "LDLRAP1(NM_015627.3):c.850G>A (p.A284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566915G>A" "" "likely benign" "" "0000506895" "0" "50" "1" "25893489" "25893489" "subst" "0.000151982" "02330" "LDLRAP1_000074" "g.25893489C>T" "" "" "" "LDLRAP1(NM_015627.3):c.*6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566998C>T" "" "VUS" "" "0000605613" "0" "10" "1" "25880194" "25880194" "subst" "0" "02330" "LDLRAP1_000075" "g.25880194A>G" "" "" "" "LDLRAP1(NM_015627.3):c.89-219A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25553703A>G" "" "benign" "" "0000605614" "0" "10" "1" "25883842" "25883842" "subst" "0" "02330" "LDLRAP1_000076" "g.25883842G>A" "" "" "" "LDLRAP1(NM_015627.3):c.459+84G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25557351G>A" "" "benign" "" "0000605615" "0" "10" "1" "25891174" "25891174" "subst" "0" "02330" "LDLRAP1_000077" "g.25891174G>A" "" "" "" "LDLRAP1(NM_015627.3):c.748-490G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25564683G>A" "" "benign" "" "0000605616" "0" "50" "1" "25891664" "25891664" "subst" "0" "02330" "LDLRAP1_000078" "g.25891664G>C" "" "" "" "LDLRAP1(NM_015627.3):c.748G>C (p.E250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565173G>C" "" "VUS" "" "0000605617" "0" "10" "1" "25892880" "25892880" "subst" "0" "02330" "LDLRAP1_000079" "g.25892880T>G" "" "" "" "LDLRAP1(NM_015627.3):c.783-459T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25566389T>G" "" "benign" "" "0000605618" "0" "30" "1" "25893546" "25893546" "subst" "0" "02330" "LDLRAP1_000080" "g.25893546G>A" "" "" "" "LDLRAP1(NM_015627.3):c.*63G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25567055G>A" "" "likely benign" "" "0000605619" "0" "10" "1" "25893932" "25893932" "del" "0" "02330" "LDLRAP1_000081" "g.25893932del" "" "" "" "LDLRAP1(NM_015627.3):c.*449delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25567441del" "" "benign" "" "0000653989" "0" "30" "1" "25890201" "25890201" "subst" "0" "02330" "LDLRAP1_000082" "g.25890201G>A" "" "" "" "LDLRAP1(NM_015627.3):c.666G>A (p.P222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25563710G>A" "" "likely benign" "" "0000653990" "0" "50" "1" "25891660" "25891660" "subst" "2.84243E-5" "02330" "LDLRAP1_000083" "g.25891660C>T" "" "" "" "LDLRAP1(NM_015627.3):c.748-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25565169C>T" "" "VUS" "" "0000675795" "0" "30" "1" "25870201" "25870201" "subst" "0" "02330" "LDLRAP1_000084" "g.25870201C>T" "" "" "" "LDLRAP1(NM_015627.3):c.12C>T (p.L4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675796" "0" "50" "1" "25893365" "25893365" "subst" "0" "02330" "LDLRAP1_000085" "g.25893365A>G" "" "" "" "LDLRAP1(NM_015627.3):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688120" "0" "50" "1" "25890161" "25890161" "subst" "8.14903E-5" "02330" "LDLRAP1_000086" "g.25890161C>T" "" "" "" "LDLRAP1(NM_015627.3):c.626C>T (p.T209I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717396" "0" "50" "1" "25880446" "25880446" "subst" "3.6597E-5" "02330" "LDLRAP1_000087" "g.25880446C>T" "" "" "" "LDLRAP1(NM_015627.3):c.122C>T (p.T41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717397" "0" "30" "1" "25880564" "25880564" "subst" "0" "02330" "LDLRAP1_000088" "g.25880564C>A" "" "" "" "LDLRAP1(NM_015627.3):c.231+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717398" "0" "70" "1" "25881448" "25881448" "subst" "0" "02330" "LDLRAP1_000089" "g.25881448A>G" "" "" "" "LDLRAP1(NM_015627.3):c.329A>G (p.N110S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717399" "0" "30" "1" "25889989" "25889989" "subst" "0" "02330" "LDLRAP1_000090" "g.25889989G>A" "" "" "" "LDLRAP1(NM_015627.3):c.617-163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717400" "0" "30" "1" "25893397" "25893397" "subst" "2.4568E-5" "02330" "LDLRAP1_000091" "g.25893397A>G" "" "" "" "LDLRAP1(NM_015627.3):c.841A>G (p.M281V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799277" "0" "50" "1" "25870169" "25870170" "ins" "0" "02330" "LDLRAP1_000092" "g.25870169_25870170insCGC" "" "" "" "LDLRAP1(NM_015627.3):c.-21_-20insCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799278" "0" "50" "1" "25881403" "25881403" "subst" "0.000771737" "02325" "LDLRAP1_000005" "g.25881403G>A" "" "" "" "LDLRAP1(NM_015627.3):c.284G>A (p.R95Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799279" "0" "50" "1" "25883708" "25883708" "subst" "0" "02330" "LDLRAP1_000093" "g.25883708C>T" "" "" "" "LDLRAP1(NM_015627.3):c.409C>T (p.H137Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799280" "0" "50" "1" "25889124" "25889124" "subst" "0" "02330" "LDLRAP1_000094" "g.25889124C>A" "" "" "" "LDLRAP1(NM_015627.3):c.460-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799281" "0" "50" "1" "25889633" "25889633" "subst" "0.00114481" "02325" "LDLRAP1_000017" "g.25889633C>A" "" "" "" "LDLRAP1(NM_015627.2):c.605C>A (p.S202Y), LDLRAP1(NM_015627.3):c.605C>A (p.S202Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799282" "0" "30" "1" "25890147" "25890147" "subst" "0" "02330" "LDLRAP1_000095" "g.25890147C>T" "" "" "" "LDLRAP1(NM_015627.3):c.617-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799283" "0" "30" "1" "25890248" "25890248" "subst" "0.000513188" "02330" "LDLRAP1_000096" "g.25890248G>A" "" "" "" "LDLRAP1(NM_015627.3):c.713G>A (p.R238Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848682" "0" "30" "1" "25870179" "25870179" "subst" "0" "02330" "LDLRAP1_000098" "g.25870179C>T" "" "" "" "LDLRAP1(NM_015627.3):c.-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848683" "0" "30" "1" "25880397" "25880397" "subst" "1.22693E-5" "02330" "LDLRAP1_000102" "g.25880397C>T" "" "" "" "LDLRAP1(NM_015627.3):c.89-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848684" "0" "30" "1" "25880438" "25880438" "subst" "3.66208E-5" "02330" "LDLRAP1_000103" "g.25880438G>C" "" "" "" "LDLRAP1(NM_015627.3):c.114G>C (p.T38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848685" "0" "50" "1" "25880514" "25880514" "subst" "0" "02330" "LDLRAP1_000105" "g.25880514G>A" "" "" "" "LDLRAP1(NM_015627.3):c.190G>A (p.E64K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848686" "0" "50" "1" "25889630" "25889630" "subst" "6.9154E-5" "02330" "LDLRAP1_000110" "g.25889630C>G" "" "" "" "LDLRAP1(NM_015627.3):c.602C>G (p.P201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848687" "0" "50" "1" "25889633" "25889633" "subst" "0.00114481" "01943" "LDLRAP1_000017" "g.25889633C>A" "" "" "" "LDLRAP1(NM_015627.2):c.605C>A (p.S202Y), LDLRAP1(NM_015627.3):c.605C>A (p.S202Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848688" "0" "50" "1" "25891682" "25891682" "subst" "8.12117E-6" "02325" "LDLRAP1_000113" "g.25891682G>A" "" "" "" "LDLRAP1(NM_015627.3):c.766G>A (p.D256N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848689" "0" "50" "1" "25893320" "25893320" "subst" "0" "02330" "LDLRAP1_000114" "g.25893320A>C" "" "" "" "LDLRAP1(NM_015627.3):c.783-19A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857411" "0" "50" "1" "25870172" "25870172" "subst" "0" "02330" "LDLRAP1_000097" "g.25870172C>T" "" "" "" "LDLRAP1(NM_015627.3):c.-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857412" "0" "30" "1" "25870198" "25870198" "subst" "0" "02330" "LDLRAP1_000099" "g.25870198G>C" "" "" "" "LDLRAP1(NM_015627.3):c.9G>C (p.A3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857413" "0" "50" "1" "25870255" "25870255" "subst" "0" "02330" "LDLRAP1_000100" "g.25870255G>T" "" "" "" "LDLRAP1(NM_015627.3):c.66G>T (p.W22C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857414" "0" "30" "1" "25880305" "25880305" "subst" "0" "02330" "LDLRAP1_000101" "g.25880305C>T" "" "" "" "LDLRAP1(NM_015627.3):c.89-108C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857415" "0" "70" "1" "25880477" "25880477" "del" "0" "02330" "LDLRAP1_000104" "g.25880477del" "" "" "" "LDLRAP1(NM_015627.3):c.153delG (p.K51Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857416" "0" "90" "1" "25880531" "25880531" "del" "0" "02330" "LDLRAP1_000106" "g.25880531del" "" "" "" "LDLRAP1(NM_015627.3):c.207delC (p.A70Pfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857417" "0" "50" "1" "25881358" "25881358" "subst" "0" "02330" "LDLRAP1_000107" "g.25881358C>T" "" "" "" "LDLRAP1(NM_015627.3):c.239C>T (p.A80V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857418" "0" "50" "1" "25883715" "25883715" "subst" "0" "02330" "LDLRAP1_000108" "g.25883715A>G" "" "" "" "LDLRAP1(NM_015627.3):c.416A>G (p.Q139R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857419" "0" "50" "1" "25889142" "25889142" "subst" "8.12203E-6" "02330" "LDLRAP1_000109" "g.25889142C>T" "" "" "" "LDLRAP1(NM_015627.3):c.467C>T (p.A156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857420" "0" "50" "1" "25890190" "25890190" "subst" "0" "02330" "LDLRAP1_000111" "g.25890190G>A" "" "" "" "LDLRAP1(NM_015627.3):c.655G>A (p.A219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857421" "0" "30" "1" "25890298" "25890298" "subst" "1.23078E-5" "02330" "LDLRAP1_000112" "g.25890298G>A" "" "" "" "LDLRAP1(NM_015627.3):c.747+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883352" "0" "50" "1" "25870254" "25870254" "subst" "0" "02330" "LDLRAP1_000115" "g.25870254G>C" "" "" "" "LDLRAP1(NM_015627.3):c.65G>C (p.W22S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883353" "0" "30" "1" "25880465" "25880465" "subst" "3.25132E-5" "02330" "LDLRAP1_000116" "g.25880465G>A" "" "" "" "LDLRAP1(NM_015627.3):c.141G>A (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883354" "0" "50" "1" "25880499" "25880499" "subst" "0" "02330" "LDLRAP1_000117" "g.25880499G>A" "" "" "" "LDLRAP1(NM_015627.3):c.175G>A (p.E59K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883355" "0" "30" "1" "25880525" "25880525" "subst" "0.000142348" "02330" "LDLRAP1_000118" "g.25880525G>A" "" "" "" "LDLRAP1(NM_015627.3):c.201G>A (p.S67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883356" "0" "30" "1" "25888934" "25888934" "del" "0" "02330" "LDLRAP1_000119" "g.25888934del" "" "" "" "LDLRAP1(NM_015627.3):c.460-201delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883357" "0" "10" "1" "25889395" "25889395" "subst" "0" "02330" "LDLRAP1_000120" "g.25889395A>G" "" "" "" "LDLRAP1(NM_015627.3):c.533-166A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883358" "0" "50" "1" "25889597" "25889597" "subst" "0.000117938" "02330" "LDLRAP1_000121" "g.25889597G>C" "" "" "" "LDLRAP1(NM_015627.3):c.569G>C (p.G190A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883359" "0" "70" "1" "25889631" "25889631" "dup" "0" "02330" "LDLRAP1_000122" "g.25889631dup" "" "" "" "LDLRAP1(NM_015627.3):c.603dupC (p.S202Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883360" "0" "30" "1" "25890156" "25890156" "subst" "0" "02330" "LDLRAP1_000123" "g.25890156C>T" "" "" "" "LDLRAP1(NM_015627.3):c.621C>T (p.V207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883361" "0" "30" "1" "25893326" "25893329" "dup" "0" "02330" "LDLRAP1_000124" "g.25893326_25893329dup" "" "" "" "LDLRAP1(NM_015627.3):c.783-13_783-10dupCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883362" "0" "50" "1" "25893463" "25893463" "subst" "0.000208031" "02330" "LDLRAP1_000125" "g.25893463G>A" "" "" "" "LDLRAP1(NM_015627.3):c.907G>A (p.D303N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883363" "0" "50" "1" "25893500" "25893500" "subst" "1.23553E-5" "02330" "LDLRAP1_000126" "g.25893500G>A" "" "" "" "LDLRAP1(NM_015627.3):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911033" "0" "50" "1" "25883649" "25883649" "subst" "4.06101E-6" "02330" "LDLRAP1_000127" "g.25883649C>G" "" "" "" "LDLRAP1(NM_015627.3):c.350C>G (p.S117C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911034" "0" "30" "1" "25889176" "25889176" "subst" "8.12196E-6" "02330" "LDLRAP1_000128" "g.25889176C>T" "" "" "" "LDLRAP1(NM_015627.3):c.501C>T (p.V167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911035" "0" "50" "1" "25889632" "25889632" "subst" "1.6291E-5" "02330" "LDLRAP1_000129" "g.25889632T>A" "" "" "" "LDLRAP1(NM_015627.3):c.604T>A (p.S202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911036" "0" "30" "1" "25893382" "25893382" "subst" "0" "02330" "LDLRAP1_000130" "g.25893382C>T" "" "" "" "LDLRAP1(NM_015627.3):c.826C>T (p.L276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911037" "0" "30" "1" "25893426" "25893426" "subst" "4.89436E-5" "02330" "LDLRAP1_000131" "g.25893426C>T" "" "" "" "LDLRAP1(NM_015627.3):c.870C>T (p.V290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928153" "0" "30" "1" "25893378" "25893378" "subst" "1.23707E-5" "02330" "LDLRAP1_000132" "g.25893378T>A" "" "" "" "LDLRAP1(NM_015627.3):c.822T>A (p.T274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947191" "0" "30" "1" "25870210" "25870210" "subst" "0" "02330" "LDLRAP1_000133" "g.25870210G>C" "" "" "" "LDLRAP1(NM_015627.3):c.21G>C (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947192" "0" "50" "1" "25870254" "25870254" "subst" "0" "02330" "LDLRAP1_000134" "g.25870254G>T" "" "" "" "LDLRAP1(NM_015627.3):c.65G>T (p.W22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947193" "0" "30" "1" "25881470" "25881470" "subst" "0" "02330" "LDLRAP1_000135" "g.25881470T>C" "" "" "" "LDLRAP1(NM_015627.3):c.344+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947194" "0" "70" "1" "25883760" "25883760" "subst" "0" "02330" "LDLRAP1_000136" "g.25883760T>A" "" "" "" "LDLRAP1(NM_015627.3):c.459+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947195" "0" "30" "1" "25883764" "25883764" "subst" "2.84917E-5" "02330" "LDLRAP1_000137" "g.25883764C>A" "" "" "" "LDLRAP1(NM_015627.3):c.459+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947196" "0" "50" "1" "25890208" "25890208" "subst" "0" "02330" "LDLRAP1_000138" "g.25890208A>G" "" "" "" "LDLRAP1(NM_015627.3):c.673A>G (p.T225A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947197" "0" "30" "1" "25893323" "25893323" "subst" "0" "02330" "LDLRAP1_000139" "g.25893323C>T" "" "" "" "LDLRAP1(NM_015627.3):c.783-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960988" "0" "30" "1" "25870597" "25870597" "subst" "0" "02330" "LDLRAP1_000140" "g.25870597C>T" "" "" "" "LDLRAP1(NM_015627.3):c.88+320C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960989" "0" "10" "1" "25880280" "25880280" "dup" "0" "02330" "LDLRAP1_000141" "g.25880280dup" "" "" "" "LDLRAP1(NM_015627.3):c.89-133dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960990" "0" "10" "1" "25883820" "25883820" "subst" "0" "02330" "LDLRAP1_000142" "g.25883820G>C" "" "" "" "LDLRAP1(NM_015627.3):c.459+62G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960991" "0" "50" "1" "25883879" "25883879" "subst" "0" "02330" "LDLRAP1_000143" "g.25883879G>A" "" "" "" "LDLRAP1(NM_015627.3):c.459+121G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960992" "0" "30" "1" "25889539" "25889539" "subst" "0.00718092" "02330" "LDLRAP1_000144" "g.25889539A>G" "" "" "" "LDLRAP1(NM_015627.3):c.533-22A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960993" "0" "10" "1" "25890373" "25890373" "subst" "0" "02330" "LDLRAP1_000145" "g.25890373G>A" "" "" "" "LDLRAP1(NM_015627.3):c.747+91G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973865" "0" "50" "1" "25880487" "25880487" "subst" "0" "02330" "LDLRAP1_000146" "g.25880487A>T" "" "" "" "LDLRAP1(NM_015627.3):c.163A>T (p.M55L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973866" "0" "50" "1" "25883750" "25883750" "subst" "0" "02330" "LDLRAP1_000147" "g.25883750C>G" "" "" "" "LDLRAP1(NM_015627.3):c.451C>G (p.R151G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973867" "0" "30" "1" "25890295" "25890295" "subst" "0.000364685" "02330" "LDLRAP1_000148" "g.25890295G>A" "" "" "" "LDLRAP1(NM_015627.3):c.747+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991079" "0" "50" "1" "25870175" "25870175" "subst" "0" "02330" "LDLRAP1_000149" "g.25870175C>G" "" "" "" "LDLRAP1(NM_015627.3):c.-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991080" "0" "50" "1" "25870259" "25870259" "subst" "0" "02330" "LDLRAP1_000150" "g.25870259G>A" "" "" "" "LDLRAP1(NM_015627.3):c.70G>A (p.G24S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991081" "0" "30" "1" "25880493" "25880493" "subst" "1.21898E-5" "02330" "LDLRAP1_000151" "g.25880493C>T" "" "" "" "LDLRAP1(NM_015627.3):c.169C>T (p.L57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991082" "0" "30" "1" "25891717" "25891717" "subst" "8.12275E-6" "02330" "LDLRAP1_000152" "g.25891717G>T" "" "" "" "LDLRAP1(NM_015627.3):c.782+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013306" "0" "50" "1" "25880462" "25880462" "subst" "0" "02330" "LDLRAP1_000153" "g.25880462G>A" "" "" "" "LDLRAP1(NM_015627.3):c.138G>A (p.M46I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013307" "0" "50" "1" "25893400" "25893400" "subst" "0" "02330" "LDLRAP1_000154" "g.25893400C>A" "" "" "" "LDLRAP1(NM_015627.3):c.844C>A (p.H282N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024146" "0" "50" "1" "25880524" "25880524" "subst" "4.06716E-6" "02330" "LDLRAP1_000155" "g.25880524C>T" "" "" "" "LDLRAP1(NM_015627.3):c.200C>T (p.S67L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024147" "0" "50" "1" "25889627" "25889627" "subst" "2.44361E-5" "02330" "LDLRAP1_000156" "g.25889627C>T" "" "" "" "LDLRAP1(NM_015627.3):c.599C>T (p.T200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031924" "0" "30" "1" "25890144" "25890144" "subst" "8.1648E-6" "02330" "LDLRAP1_000157" "g.25890144C>T" "" "" "" "LDLRAP1(NM_015627.3):c.617-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045670" "0" "30" "1" "25893367" "25893367" "subst" "8.3002E-5" "02325" "LDLRAP1_000072" "g.25893367G>A" "" "" "" "LDLRAP1(NM_015627.3):c.811G>A (p.V271I)" "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 LDLRAP1 ## Count = 163 "{{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}}" "0000245423" "00011043" "10" "654" "0" "654" "0" "c.654A>G" "r.(?)" "p.(Thr218=)" "" "0000245509" "00011043" "10" "89" "-133" "89" "-133" "c.89-133del" "r.(=)" "p.(=)" "" "0000245510" "00011043" "10" "89" "-17" "89" "-17" "c.89-17A>G" "r.(=)" "p.(=)" "" "0000245533" "00011043" "30" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Asn138Ser)" "" "0000248351" "00011043" "10" "654" "0" "654" "0" "c.654A>G" "r.(?)" "p.(Thr218=)" "" "0000279052" "00011043" "10" "-17" "0" "-17" "0" "c.-17G>T" "r.(?)" "p.(=)" "" "0000279053" "00011043" "10" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Leu66=)" "" "0000279054" "00011043" "10" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95Gln)" "" "0000279055" "00011043" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Ile132=)" "" "0000279056" "00011043" "50" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "" "0000279057" "00011043" "10" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Cys143=)" "" "0000279058" "00011043" "10" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(His144=)" "" "0000279059" "00011043" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Trp)" "" "0000279060" "00011043" "90" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Ala168Thr)" "" "0000279061" "00011043" "90" "516" "0" "516" "0" "c.516G>T" "r.(?)" "p.(Trp172Cys)" "" "0000279062" "00011043" "10" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Lys181=)" "" "0000279063" "00011043" "50" "586" "0" "586" "0" "c.586C>A" "r.(?)" "p.(Arg196Ser)" "" "0000279064" "00011043" "10" "604" "0" "604" "0" "c.604T>C" "r.(?)" "p.(Ser202Pro)" "" "0000279065" "00011043" "90" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ser202Tyr)" "" "0000279066" "00011043" "10" "616" "12" "616" "12" "c.616+12C>T" "r.(=)" "p.(=)" "" "0000279067" "00011043" "90" "617" "-13" "617" "-13" "c.617-13G>A" "r.(=)" "p.(=)" "" "0000279068" "00011043" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000279069" "00011043" "30" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Thr218Ile)" "" "0000279070" "00011043" "10" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Ser224=)" "" "0000279071" "00011043" "10" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Thr225=)" "" "0000279072" "00011043" "50" "748" "-4" "748" "-4" "c.748-4C>A" "r.spl?" "p.?" "" "0000279073" "00011043" "30" "850" "0" "850" "0" "c.850G>T" "r.(?)" "p.(Ala284Ser)" "" "0000506847" "00011043" "10" "-172" "0" "-172" "0" "c.-172C>G" "r.(?)" "p.(=)" "" "0000506848" "00011043" "30" "-15" "0" "-15" "0" "c.-15C>T" "r.(?)" "p.(=)" "" "0000506849" "00011043" "70" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000506850" "00011043" "90" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Trp22Ter)" "" "0000506851" "00011043" "50" "71" "0" "71" "0" "c.71G>T" "r.(?)" "p.(Gly24Val)" "" "0000506852" "00011043" "90" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Gly25ArgfsTer9)" "" "0000506853" "00011043" "30" "75" "0" "75" "0" "c.75T>A" "r.(?)" "p.(Gly25=)" "" "0000506854" "00011043" "30" "88" "8" "88" "8" "c.88+8T>A" "r.(=)" "p.(=)" "" "0000506855" "00011043" "30" "88" "30" "88" "34" "c.88+30_88+34dup" "r.(=)" "p.(=)" "" "0000506856" "00011043" "10" "89" "-294" "89" "-294" "c.89-294G>C" "r.(=)" "p.(=)" "" "0000506857" "00011043" "30" "89" "-134" "89" "-133" "c.89-134_89-133del" "r.(=)" "p.(=)" "" "0000506858" "00011043" "70" "116" "0" "116" "0" "c.116G>A" "r.(?)" "p.(Arg39Gln)" "" "0000506859" "00011043" "30" "198" "0" "198" "0" "c.198G>T" "r.(?)" "p.(Leu66=)" "" "0000506860" "00011043" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Ala68=)" "" "0000506861" "00011043" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Ala69=)" "" "0000506862" "00011043" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Val75Met)" "" "0000506863" "00011043" "50" "344" "5" "344" "5" "c.344+5G>C" "r.spl?" "p.?" "" "0000506864" "00011043" "10" "345" "-333" "345" "-333" "c.345-333A>C" "r.(=)" "p.(=)" "" "0000506865" "00011043" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Ile132=)" "" "0000506866" "00011043" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Gln136Ter)" "" "0000506867" "00011043" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Leu141=)" "" "0000506868" "00011043" "70" "440" "0" "440" "0" "c.440T>C" "r.(?)" "p.(Leu147Pro)" "" "0000506869" "00011043" "50" "443" "0" "443" "0" "c.443G>C" "r.(?)" "p.(Cys148Ser)" "" "0000506870" "00011043" "30" "459" "14" "459" "14" "c.459+14dup" "r.(=)" "p.(=)" "" "0000506871" "00011043" "10" "532" "138" "532" "139" "c.532+138_532+139del" "r.(=)" "p.(=)" "" "0000506872" "00011043" "10" "533" "-139" "533" "-139" "c.533-139C>T" "r.(=)" "p.(=)" "" "0000506873" "00011043" "50" "564" "0" "564" "0" "c.564G>C" "r.(?)" "p.(Glu188Asp)" "" "0000506874" "00011043" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000506875" "00011043" "30" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "" "0000506876" "00011043" "30" "616" "28" "616" "28" "c.616+28G>A" "r.(=)" "p.(=)" "" "0000506877" "00011043" "10" "617" "-235" "617" "-235" "c.617-235T>C" "r.(=)" "p.(=)" "" "0000506878" "00011043" "10" "617" "-102" "617" "-102" "c.617-102A>G" "r.(=)" "p.(=)" "" "0000506879" "00011043" "70" "617" "-14" "617" "-14" "c.617-14C>A" "r.(=)" "p.(=)" "" "0000506880" "00011043" "50" "620" "0" "620" "0" "c.620T>C" "r.(?)" "p.(Val207Ala)" "" "0000506881" "00011043" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Pro237=)" "" "0000506882" "00011043" "10" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Trp)" "" "0000506883" "00011043" "10" "748" "-303" "748" "-303" "c.748-303G>A" "r.(=)" "p.(=)" "" "0000506884" "00011043" "70" "771" "0" "771" "0" "c.771A>C" "r.(?)" "p.(Glu257Asp)" "" "0000506885" "00011043" "50" "781" "0" "781" "0" "c.781A>G" "r.(?)" "p.(Arg261Gly)" "" "0000506886" "00011043" "10" "782" "261" "782" "261" "c.782+261G>A" "r.(=)" "p.(=)" "" "0000506887" "00011043" "10" "782" "273" "782" "273" "c.782+273C>T" "r.(=)" "p.(=)" "" "0000506888" "00011043" "10" "782" "351" "782" "351" "c.782+351del" "r.(=)" "p.(=)" "" "0000506889" "00011043" "10" "783" "-118" "783" "-118" "c.783-118G>T" "r.(=)" "p.(=)" "" "0000506890" "00011043" "10" "783" "-97" "783" "-97" "c.783-97T>C" "r.(=)" "p.(=)" "" "0000506891" "00011043" "10" "783" "-96" "783" "-96" "c.783-96G>A" "r.(=)" "p.(=)" "" "0000506892" "00011043" "30" "783" "-18" "783" "-18" "c.783-18C>T" "r.(=)" "p.(=)" "" "0000506893" "00011043" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" "0000506894" "00011043" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Ala284Thr)" "" "0000506895" "00011043" "50" "933" "0" "933" "0" "c.*6C>T" "r.(=)" "p.(=)" "" "0000605613" "00011043" "10" "89" "-219" "89" "-219" "c.89-219A>G" "r.(=)" "p.(=)" "" "0000605614" "00011043" "10" "459" "84" "459" "84" "c.459+84G>A" "r.(=)" "p.(=)" "" "0000605615" "00011043" "10" "748" "-490" "748" "-490" "c.748-490G>A" "r.(=)" "p.(=)" "" "0000605616" "00011043" "50" "748" "0" "748" "0" "c.748G>C" "r.(?)" "p.(Glu250Gln)" "" "0000605617" "00011043" "10" "783" "-459" "783" "-459" "c.783-459T>G" "r.(=)" "p.(=)" "" "0000605618" "00011043" "30" "990" "0" "990" "0" "c.*63G>A" "r.(=)" "p.(=)" "" "0000605619" "00011043" "10" "1376" "0" "1376" "0" "c.*449del" "r.(?)" "p.(=)" "" "0000653989" "00011043" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Pro222=)" "" "0000653990" "00011043" "50" "748" "-4" "748" "-4" "c.748-4C>T" "r.spl?" "p.?" "" "0000675795" "00011043" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Leu4=)" "" "0000675796" "00011043" "50" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000688120" "00011043" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Thr209Ile)" "" "0000717396" "00011043" "50" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Thr41Met)" "" "0000717397" "00011043" "30" "231" "9" "231" "9" "c.231+9C>A" "r.(=)" "p.(=)" "" "0000717398" "00011043" "70" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asn110Ser)" "" "0000717399" "00011043" "30" "617" "-163" "617" "-163" "c.617-163G>A" "r.(=)" "p.(=)" "" "0000717400" "00011043" "30" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Met281Val)" "" "0000799277" "00011043" "50" "-21" "0" "-20" "0" "c.-21_-20insCGC" "r.(?)" "p.(=)" "" "0000799278" "00011043" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95Gln)" "" "0000799279" "00011043" "50" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(His137Tyr)" "" "0000799280" "00011043" "50" "460" "-11" "460" "-11" "c.460-11C>A" "r.(=)" "p.(=)" "" "0000799281" "00011043" "50" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ser202Tyr)" "" "0000799282" "00011043" "30" "617" "-5" "617" "-5" "c.617-5C>T" "r.spl?" "p.?" "" "0000799283" "00011043" "30" "713" "0" "713" "0" "c.713G>A" "r.(?)" "p.(Arg238Gln)" "" "0000848682" "00011043" "30" "-11" "0" "-11" "0" "c.-11C>T" "r.(?)" "p.(=)" "" "0000848683" "00011043" "30" "89" "-16" "89" "-16" "c.89-16C>T" "r.(=)" "p.(=)" "" "0000848684" "00011043" "30" "114" "0" "114" "0" "c.114G>C" "r.(?)" "p.(Thr38=)" "" "0000848685" "00011043" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Glu64Lys)" "" "0000848686" "00011043" "50" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Pro201Arg)" "" "0000848687" "00011043" "50" "605" "0" "605" "0" "c.605C>A" "r.(?)" "p.(Ser202Tyr)" "" "0000848688" "00011043" "50" "766" "0" "766" "0" "c.766G>A" "r.(?)" "p.(Asp256Asn)" "" "0000848689" "00011043" "50" "783" "-19" "783" "-19" "c.783-19A>C" "r.(=)" "p.(=)" "" "0000857411" "00011043" "50" "-18" "0" "-18" "0" "c.-18C>T" "r.(?)" "p.(=)" "" "0000857412" "00011043" "30" "9" "0" "9" "0" "c.9G>C" "r.(?)" "p.(Ala3=)" "" "0000857413" "00011043" "50" "66" "0" "66" "0" "c.66G>T" "r.(?)" "p.(Trp22Cys)" "" "0000857414" "00011043" "30" "89" "-108" "89" "-108" "c.89-108C>T" "r.(=)" "p.(=)" "" "0000857415" "00011043" "70" "153" "0" "153" "0" "c.153del" "r.(?)" "p.(Lys51Asnfs*5)" "" "0000857416" "00011043" "90" "207" "0" "207" "0" "c.207del" "r.(?)" "p.(Ala70Profs*19)" "" "0000857417" "00011043" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Ala80Val)" "" "0000857418" "00011043" "50" "416" "0" "416" "0" "c.416A>G" "r.(?)" "p.(Gln139Arg)" "" "0000857419" "00011043" "50" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Ala156Val)" "" "0000857420" "00011043" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Ala219Thr)" "" "0000857421" "00011043" "30" "747" "16" "747" "16" "c.747+16G>A" "r.(=)" "p.(=)" "" "0000883352" "00011043" "50" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Trp22Ser)" "" "0000883353" "00011043" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Leu47=)" "" "0000883354" "00011043" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Glu59Lys)" "" "0000883355" "00011043" "30" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Ser67=)" "" "0000883356" "00011043" "30" "460" "-201" "460" "-201" "c.460-201del" "r.(=)" "p.(=)" "" "0000883357" "00011043" "10" "533" "-166" "533" "-166" "c.533-166A>G" "r.(=)" "p.(=)" "" "0000883358" "00011043" "50" "569" "0" "569" "0" "c.569G>C" "r.(?)" "p.(Gly190Ala)" "" "0000883359" "00011043" "70" "603" "0" "603" "0" "c.603dup" "r.(?)" "p.(Ser202Leufs*19)" "" "0000883360" "00011043" "30" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Val207=)" "" "0000883361" "00011043" "30" "783" "-13" "783" "-10" "c.783-13_783-10dup" "r.(=)" "p.(=)" "" "0000883362" "00011043" "50" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Asp303Asn)" "" "0000883363" "00011043" "50" "944" "0" "944" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "0000911033" "00011043" "50" "350" "0" "350" "0" "c.350C>G" "r.(?)" "p.(Ser117Cys)" "" "0000911034" "00011043" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Val167=)" "" "0000911035" "00011043" "50" "604" "0" "604" "0" "c.604T>A" "r.(?)" "p.(Ser202Thr)" "" "0000911036" "00011043" "30" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Leu276=)" "" "0000911037" "00011043" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Val290=)" "" "0000928153" "00011043" "30" "822" "0" "822" "0" "c.822T>A" "r.(?)" "p.(=)" "" "0000947191" "00011043" "30" "21" "0" "21" "0" "c.21G>C" "r.(?)" "p.(=)" "" "0000947192" "00011043" "50" "65" "0" "65" "0" "c.65G>T" "r.(?)" "p.(Trp22Leu)" "" "0000947193" "00011043" "30" "344" "7" "344" "7" "c.344+7T>C" "r.(=)" "p.(=)" "" "0000947194" "00011043" "70" "459" "2" "459" "2" "c.459+2T>A" "r.spl?" "p.?" "" "0000947195" "00011043" "30" "459" "6" "459" "6" "c.459+6C>A" "r.(=)" "p.(=)" "" "0000947196" "00011043" "50" "673" "0" "673" "0" "c.673A>G" "r.(?)" "p.(Thr225Ala)" "" "0000947197" "00011043" "30" "783" "-16" "783" "-16" "c.783-16C>T" "r.(=)" "p.(=)" "" "0000960988" "00011043" "30" "88" "320" "88" "320" "c.88+320C>T" "r.(=)" "p.(=)" "" "0000960989" "00011043" "10" "89" "-133" "89" "-133" "c.89-133dup" "r.(=)" "p.(=)" "" "0000960990" "00011043" "10" "459" "62" "459" "62" "c.459+62G>C" "r.(=)" "p.(=)" "" "0000960991" "00011043" "50" "459" "121" "459" "121" "c.459+121G>A" "r.(=)" "p.(=)" "" "0000960992" "00011043" "30" "533" "-22" "533" "-22" "c.533-22A>G" "r.(=)" "p.(=)" "" "0000960993" "00011043" "10" "747" "91" "747" "91" "c.747+91G>A" "r.(=)" "p.(=)" "" "0000973865" "00011043" "50" "163" "0" "163" "0" "c.163A>T" "r.(?)" "p.(Met55Leu)" "" "0000973866" "00011043" "50" "451" "0" "451" "0" "c.451C>G" "r.(?)" "p.(Arg151Gly)" "" "0000973867" "00011043" "30" "747" "13" "747" "13" "c.747+13G>A" "r.(=)" "p.(=)" "" "0000991079" "00011043" "50" "-15" "0" "-15" "0" "c.-15C>G" "r.(?)" "p.(=)" "" "0000991080" "00011043" "50" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Gly24Ser)" "" "0000991081" "00011043" "30" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(=)" "" "0000991082" "00011043" "30" "782" "19" "782" "19" "c.782+19G>T" "r.(=)" "p.(=)" "" "0001013306" "00011043" "50" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Met46Ile)" "" "0001013307" "00011043" "50" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(His282Asn)" "" "0001024146" "00011043" "50" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Ser67Leu)" "" "0001024147" "00011043" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Thr200Ile)" "" "0001031924" "00011043" "30" "617" "-8" "617" "-8" "c.617-8C>T" "r.(=)" "p.(=)" "" "0001045670" "00011043" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0