### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HPS3) # 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}}" "HPS3" "Hermansky-Pudlak syndrome 3" "3" "q24" "unknown" "NG_009847.1" "UD_132118746701" "" "http://www.LOVD.nl/HPS3" "Mutations of the HPS3 Gene \r\nAlbinism Database HPS3 gene " "1" "15597" "84343" "606118" "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/HPS3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-12-06 22:03:13" "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}}" "00009601" "HPS3" "Hermansky-Pudlak syndrome 3" "001" "NM_032383.3" "" "NP_115759.2" "" "" "" "-140" "4311" "3015" "148847371" "148891305" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00469" "HPS" "Hermansky-Pudlak syndrome" "" "" "" "" "" "00006" "2014-07-23 09:19:23" "00006" "2022-01-25 17:51:50" "00470" "HPS3" "Hermansky-Pudlak syndrome, type 3 (HPS-3)" "AR" "614072" "" "" "" "00006" "2014-07-23 09:20:14" "00006" "2021-12-10 21:51:32" "05208" "JBS;11q" "Jacobsen syndrome (JBS; deletion syndrome, chromosome 11q)" "" "147791" "" "" "" "00006" "2016-12-06 21:38:27" "" "" "05536" "albinism" "albinism" "" "" "" "" "" "00006" "2018-12-22 14:34:16" "00006" "2022-01-24 17:04:35" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HPS3" "00469" "HPS3" "00470" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00019479" "" "" "" "5" "" "00755" "{PMID:Anikster 2001:11455388}" "2-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Puerto Rico" "" "0" "" "" "" "" "00019480" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "no" "Italy;Puerto Rico" "" "0" "" "" "" "" "00019481" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "" "00019482" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "" "00019483" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "no" "Germany;Ireland" "" "0" "" "" "Jewish-Ashkenazi" "" "00019484" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "M" "" "Germany;Switzerland" "" "0" "" "" "" "" "00019485" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "M" "" "Ireland" "" "0" "" "" "" "" "00081096" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00090119" "" "" "" "5" "" "00755" "{PMID:Anikster 2001:11455388}" "3-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents" "F;M" "" "Puerto Rico" "" "0" "" "" "" "" "00090120" "" "" "" "2" "" "00755" "{PMID:Anikster 2001:11455388}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Puerto Rico" "" "0" "" "" "" "" "00090121" "" "" "" "1" "" "00755" "{PMID:Anikster 2001:11455388}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Puerto Rico" "" "0" "" "" "" "" "00090122" "" "" "" "1" "" "00755" "{PMID:Anikster 2001:11455388}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Puerto Rico" "" "0" "" "" "" "" "00090123" "" "" "" "1" "" "00755" "{PMID:Anikster 2001:11455388}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Puerto Rico" "" "0" "" "" "" "" "00090124" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "" "00090125" "" "" "" "1" "" "00755" "{PMID:Huizing 2001:11590544}" "" "F" "" "United States" "" "0" "" "" "Jewish-Ashkenazi" "" "00293243" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293244" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293245" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302674" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00400132" "" "" "" "1" "" "00006" "{PMID:Lasseaux 2018:29345414}" "analysis 990 cases albinism" "" "" "" "" "0" "" "" "" "HPS3-P1" "00400133" "" "" "" "1" "" "00006" "{PMID:Lasseaux 2018:29345414}" "analysis 990 cases albinism" "" "" "" "" "0" "" "" "" "HPS3-P2" "00440434" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2255.1" "00447572" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "OA-19" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00019479" "00469" "00019480" "00469" "00019481" "00469" "00019482" "00469" "00019483" "00469" "00019483" "05208" "00019484" "00469" "00019485" "00469" "00081096" "00470" "00090119" "00469" "00090120" "00469" "00090121" "00469" "00090122" "00469" "00090123" "00469" "00090124" "00469" "00090125" "00469" "00293243" "00198" "00293244" "00198" "00293245" "00198" "00302674" "00198" "00400132" "05536" "00400133" "05536" "00440434" "00198" "00447572" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00469, 00470, 05208, 05536 ## Count = 21 "{{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}}" "0000017280" "00469" "00019479" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017281" "00469" "00019480" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017282" "00469" "00019481" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017283" "00469" "00019482" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017284" "00469" "00019483" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017285" "00469" "00019484" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000017286" "00469" "00019485" "00755" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000060665" "00470" "00081096" "01758" "Familial, autosomal recessive" "" "Hermansky-Pudlak syndrome 3 (OMIM:614072)" "" "" "" "" "" "" "" "" "" "" "" "0000069492" "00469" "00090119" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069493" "00469" "00090120" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069494" "00469" "00090121" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069495" "00469" "00090122" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069496" "00469" "00090123" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069497" "05208" "00019483" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000069498" "00469" "00090124" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000069499" "00469" "00090125" "00755" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000229755" "00198" "00302674" "01807" "Unknown" "" "Ocular albinism (HP:0001107)" "" "" "" "" "" "" "" "" "" "" "" "0000293173" "05536" "00400132" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HSP1" "albinism" "" "0000293174" "05536" "00400133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HSP1" "albinism" "" "0000330344" "00198" "00440434" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hermansky-Pudlak syndrome-3 (MIM #614072)" "" "" "0000336771" "00198" "00447572" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "ocular albinism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019464" "00019479" "1" "00755" "00006" "2011-10-18 19:28:56" "00006" "2016-12-06 20:59:52" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000019465" "00019480" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000019466" "00019481" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000019467" "00019482" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000019468" "00019483" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000019469" "00019484" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000019470" "00019485" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000081208" "00081096" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000090264" "00090119" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090265" "00090120" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090266" "00090121" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090267" "00090122" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090268" "00090123" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090269" "00090124" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000090270" "00090125" "1" "00755" "00006" "2011-10-18 19:28:56" "" "" "SEQ" "DNA" "" "" "0000294411" "00293243" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294412" "00293244" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294413" "00293245" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303799" "00302674" "1" "01807" "01807" "2020-05-27 17:22:02" "" "" "SEQ" "DNA" "" "" "0000401375" "00400132" "1" "00006" "00006" "2022-01-24 17:15:50" "" "" "SEQ-NG" "DNA" "" "" "0000401376" "00400133" "1" "00006" "00006" "2022-01-24 17:15:50" "" "" "SEQ-NG" "DNA" "" "" "0000441919" "00440434" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449149" "00447572" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000019464" "HPS3" "0000019465" "HPS3" "0000019466" "HPS3" "0000019467" "HPS3" "0000019468" "HPS3" "0000019469" "HPS3" "0000019470" "HPS3" "0000081208" "HPS3" "0000090264" "HPS3" "0000090265" "HPS3" "0000090266" "HPS3" "0000090267" "HPS3" "0000090268" "HPS3" "0000090269" "HPS3" "0000090270" "HPS3" ## 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 = 202 "{{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}}" "0000039710" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000039711" "1" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp; unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000039712" "3" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "00755" "HPS3_000002" "g.148863334G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0002}" "" "1303+1G>A" "splice mutation" "Germline" "" "" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000039713" "1" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "00755" "HPS3_000002" "g.148863334G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0002}" "" "1303+1G>A" "splice mutation" "Germline" "" "" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000039714" "1" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "00755" "HPS3_000002" "g.148863334G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0002}" "" "1303+1G>A" "splice mutation" "Germline" "" "" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000039715" "1" "90" "3" "148881737" "148881737" "subst" "4.12052E-6" "00755" "HPS3_000005" "g.148881737G>C" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0005}" "" "2729+1G>C" "splice mutation" "Germline" "" "" "0" "" "" "g.149163950G>C" "" "pathogenic" "" "0000039716" "1" "90" "3" "148888270" "148888270" "subst" "0" "00755" "HPS3_000007" "g.148888270G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0007}" "" "3027ins89" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.149170483G>A" "" "pathogenic" "" "0000039739" "2" "90" "3" "148875320" "148875320" "subst" "0" "00755" "HPS3_000003" "g.148875320T>G" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0003}" "" "1831+2T>G" "splice mutation" "Germline" "" "" "0" "" "" "g.149157533T>G" "" "pathogenic" "" "0000039740" "2" "90" "3" "148881627" "148881627" "subst" "8.17361E-6" "00755" "HPS3_000004" "g.148881627A>G" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0004}" "" "2621-2A>G" "splice mutation" "Germline" "" "" "0" "" "" "g.149163840A>G" "" "pathogenic" "" "0000039741" "2" "90" "3" "148868411" "148868411" "subst" "3.65643E-5" "00755" "HPS3_000006" "g.148868411C>T" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0006}" "" "C1329T" "" "Germline" "" "" "0" "" "" "g.149150624C>T" "" "pathogenic" "" "0000130294" "3" "70" "3" "148863323" "148863330" "del" "0" "01758" "HPS3_000008" "g.148863323_148863330del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.149145536_149145543del" "" "likely pathogenic" "ACMG" "0000148352" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000148353" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000148354" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000148355" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000148356" "3" "99" "3" "148844518" "148848417" "del" "0" "00755" "HPS3_000001" "g.148844518_148848417del" "" "{PMID:Anikster 2001:11455388}, {OMIM606118:0001}" "" "del ex1" "deletion 3904 bp" "Germline" "yes" "" "0" "" "" "g.149126731_149130630del" "" "pathogenic" "" "0000148358" "3" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "00755" "HPS3_000002" "g.148863334G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0002}" "" "1303+1G>A" "splice mutation" "Germline" "" "" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000148359" "3" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "00755" "HPS3_000002" "g.148863334G>A" "" "{PMID:Huizing 2001:11590544}, {OMIM606118:0002}" "" "1303+1G>A" "splice mutation" "Germline" "" "" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000246140" "0" "10" "3" "148871401" "148871401" "subst" "0.00111793" "02330" "HPS3_000016" "g.148871401A>G" "" "" "" "HPS3(NM_032383.5):c.1366A>G (p.I456V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149153614A>G" "" "benign" "" "0000246188" "0" "90" "3" "148871413" "148871413" "subst" "0" "02330" "HPS3_000017" "g.148871413A>T" "" "" "" "HPS3(NM_032383.5):c.1378A>T (p.R460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149153626A>T" "" "pathogenic" "" "0000249754" "0" "50" "3" "148930444" "148930444" "subst" "8.13564E-6" "02325" "CP_000045" "g.148930444A>G" "" "" "" "CP(NM_000096.4):c.188T>C (p.I63T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149212657A>G" "" "VUS" "" "0000249924" "0" "10" "3" "148896430" "148896430" "subst" "0.295096" "02329" "CP_000048" "g.148896430A>G" "" "" "" "CP(NM_000096.3):c.2662-12T>C, CP(NM_000096.4):c.2662-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178643A>G" "" "benign" "" "0000249951" "0" "10" "3" "148895654" "148895654" "subst" "0.033841" "02329" "CP_000009" "g.148895654A>G" "" "" "" "CP(NM_000096.3):c.2991T>C (p.H997=), CP(NM_000096.4):c.2991T>C (p.H997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149177867A>G" "" "benign" "" "0000250194" "0" "10" "3" "148901406" "148901406" "del" "0" "02329" "CP_000022" "g.148901406del" "" "" "" "CP(NM_000096.4):c.2286-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183619del" "" "benign" "" "0000250275" "0" "30" "3" "148919962" "148919962" "subst" "0.00130799" "02329" "CP_000034" "g.148919962A>G" "" "" "" "CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149202175A>G" "" "likely benign" "" "0000250419" "0" "30" "3" "148896190" "148896190" "subst" "0.002818" "02329" "CP_000011" "g.148896190A>C" "" "" "" "CP(NM_000096.4):c.2878+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178403A>C" "" "likely benign" "" "0000250420" "0" "30" "3" "148899772" "148899772" "subst" "0" "02329" "CP_000016" "g.148899772A>C" "" "" "" "CP(NM_000096.4):c.2554+20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149181985A>C" "" "likely benign" "" "0000250421" "0" "30" "3" "148901404" "148901404" "subst" "0" "02329" "CP_000023" "g.148901404A>C" "" "" "" "CP(NM_000096.4):c.2286-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183617A>C" "" "likely benign" "" "0000250422" "0" "30" "3" "148919880" "148919880" "subst" "0.00126755" "02329" "CP_000033" "g.148919880A>G" "" "" "" "CP(NM_000096.3):c.1348+9T>C, CP(NM_000096.4):c.1348+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149202093A>G" "" "likely benign" "" "0000250423" "0" "30" "3" "148920043" "148920043" "subst" "0.00336735" "02329" "CP_000035" "g.148920043A>T" "" "" "" "CP(NM_000096.4):c.1209-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149202256A>T" "" "likely benign" "" "0000251300" "0" "10" "3" "148859174" "148859174" "subst" "0.0349358" "02326" "HPS3_000015" "g.148859174A>G" "" "" "" "HPS3(NM_032383.5):c.970+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149141387A>G" "" "benign" "" "0000253148" "0" "10" "3" "148896430" "148896430" "subst" "0.295096" "01943" "CP_000048" "g.148896430A>G" "" "" "" "CP(NM_000096.3):c.2662-12T>C, CP(NM_000096.4):c.2662-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178643A>G" "" "benign" "" "0000254042" "0" "30" "3" "148895654" "148895654" "subst" "0.033841" "01943" "CP_000009" "g.148895654A>G" "" "" "" "CP(NM_000096.3):c.2991T>C (p.H997=), CP(NM_000096.4):c.2991T>C (p.H997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149177867A>G" "" "likely benign" "" "0000267099" "0" "10" "3" "148916235" "148916235" "subst" "0.923056" "02325" "CP_000031" "g.148916235T>A" "" "" "" "CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198448T>A" "" "benign" "" "0000267100" "0" "10" "3" "148916215" "148916215" "subst" "0.0287447" "02325" "CP_000030" "g.148916215G>A" "" "" "" "CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198428G>A" "" "benign" "" "0000267101" "0" "50" "3" "148903153" "148903153" "subst" "0.000219314" "02325" "CP_000026" "g.148903153G>A" "" "" "" "CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149185366G>A" "" "VUS" "" "0000267102" "0" "30" "3" "148901407" "148901407" "subst" "0.0238462" "02325" "CP_000025" "g.148901407C>A" "" "" "" "CP(NM_000096.4):c.2286-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183620C>A" "" "likely benign" "" "0000267103" "0" "50" "3" "148896396" "148896396" "subst" "0.00152985" "02325" "CP_000013" "g.148896396C>G" "" "" "" "CP(NM_000096.4):c.2684G>C (p.G895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178609C>G" "" "VUS" "" "0000267104" "0" "30" "3" "148896287" "148896287" "subst" "0.00203196" "02325" "CP_000012" "g.148896287T>C" "" "" "" "CP(NM_000096.4):c.2793A>G (p.(Leu931=), p.L931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178500T>C" "" "likely benign" "" "0000267105" "0" "30" "3" "148930219" "148930219" "subst" "0.000745175" "02325" "CP_000043" "g.148930219C>T" "" "" "" "CP(NM_000096.4):c.394+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149212432C>T" "" "likely benign" "" "0000268544" "0" "30" "3" "148924064" "148924064" "subst" "0.0033906" "02329" "CP_000037" "g.148924064G>A" "" "" "" "CP(NM_000096.4):c.1099C>T (p.R367C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149206277G>A" "" "likely benign" "" "0000268545" "0" "50" "3" "148924031" "148924031" "subst" "9.35271E-5" "02329" "CP_000036" "g.148924031C>T" "" "" "" "CP(NM_000096.4):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149206244C>T" "" "VUS" "" "0000268546" "0" "30" "3" "148939434" "148939434" "subst" "1.22574E-5" "02329" "CP_000046" "g.148939434G>A" "" "" "" "CP(NM_000096.4):c.146C>T (p.T49M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149221647G>A" "" "likely benign" "" "0000268547" "0" "30" "3" "148917499" "148917499" "subst" "8.93452E-5" "02329" "CP_000032" "g.148917499T>G" "" "" "" "CP(NM_000096.4):c.1501A>C (p.S501R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149199712T>G" "" "likely benign" "" "0000268548" "0" "10" "3" "148916235" "148916235" "subst" "0.923056" "02329" "CP_000031" "g.148916235T>A" "" "" "" "CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198448T>A" "" "benign" "" "0000268549" "0" "10" "3" "148916215" "148916215" "subst" "0.0287447" "02329" "CP_000030" "g.148916215G>A" "" "" "" "CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198428G>A" "" "benign" "" "0000268550" "0" "30" "3" "148904439" "148904439" "subst" "0.000442769" "02329" "CP_000029" "g.148904439C>T" "" "" "" "CP(NM_000096.3):c.1945G>A (p.A649T), CP(NM_000096.4):c.1945G>A (p.A649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149186652C>T" "" "likely benign" "" "0000268551" "0" "10" "3" "148904434" "148904434" "subst" "0.0440388" "02329" "CP_000027" "g.148904434T>G" "" "" "" "CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149186647T>G" "" "benign" "" "0000268552" "0" "30" "3" "148901407" "148901408" "del" "0" "02329" "CP_000024" "g.148901407_148901408del" "" "" "" "CP(NM_000096.4):c.2286-15_2286-14delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183620_149183621del" "" "likely benign" "" "0000268553" "0" "10" "3" "148901407" "148901407" "subst" "0.0238462" "02329" "CP_000025" "g.148901407C>A" "" "" "" "CP(NM_000096.4):c.2286-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183620C>A" "" "benign" "" "0000268555" "0" "10" "3" "148901300" "148901300" "subst" "0.00716277" "02329" "CP_000020" "g.148901300C>T" "" "" "" "CP(NM_000096.4):c.2378G>A (p.R793H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149183513C>T" "" "benign" "" "0000268556" "0" "30" "3" "148899778" "148899778" "subst" "0" "02329" "CP_000018" "g.148899778G>C" "" "" "" "CP(NM_000096.4):c.2554+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149181991G>C" "" "likely benign" "" "0000268557" "0" "10" "3" "148899775" "148899775" "subst" "0.0313602" "02329" "CP_000017" "g.148899775C>T" "" "" "" "CP(NM_000096.4):c.2554+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149181988C>T" "" "benign" "" "0000268559" "0" "50" "3" "148896396" "148896396" "subst" "0.00152985" "02329" "CP_000013" "g.148896396C>G" "" "" "" "CP(NM_000096.4):c.2684G>C (p.G895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178609C>G" "" "VUS" "" "0000268560" "0" "30" "3" "148896287" "148896287" "subst" "0.00203196" "02329" "CP_000012" "g.148896287T>C" "" "" "" "CP(NM_000096.4):c.2793A>G (p.(Leu931=), p.L931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149178500T>C" "" "likely benign" "" "0000268561" "0" "30" "3" "148895659" "148895659" "subst" "8.12803E-6" "02329" "CP_000010" "g.148895659C>T" "" "" "" "CP(NM_000096.4):c.2986G>A (p.V996I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149177872C>T" "" "likely benign" "" "0000268562" "0" "30" "3" "148891521" "148891521" "subst" "0.00200833" "02329" "CP_000005" "g.148891521T>C" "" "" "" "CP(NM_000096.3):c.3182-4A>G, CP(NM_000096.4):c.3182-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149173734T>C" "" "likely benign" "" "0000268563" "0" "10" "3" "148930218" "148930218" "subst" "0.130574" "02329" "CP_000042" "g.148930218G>A" "" "" "" "CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149212431G>A" "" "benign" "" "0000268564" "0" "10" "3" "148925418" "148925418" "subst" "0.0379466" "02329" "CP_000040" "g.148925418G>A" "" "" "" "CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149207631G>A" "" "benign" "" "0000268565" "0" "50" "3" "148925398" "148925398" "subst" "0.000410937" "02329" "CP_000039" "g.148925398T>C" "" "" "" "CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149207611T>C" "" "VUS" "" "0000274348" "0" "30" "3" "148924125" "148924125" "subst" "0.000533045" "01943" "CP_000038" "g.148924125G>A" "" "" "" "CP(NM_000096.3):c.1038C>T (p.A346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149206338G>A" "" "likely benign" "" "0000274349" "0" "10" "3" "148916235" "148916235" "subst" "0.923056" "01943" "CP_000031" "g.148916235T>A" "" "" "" "CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198448T>A" "" "benign" "" "0000274350" "0" "10" "3" "148916215" "148916215" "subst" "0.0287447" "01943" "CP_000030" "g.148916215G>A" "" "" "" "CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149198428G>A" "" "benign" "" "0000274351" "0" "90" "3" "148904436" "148904436" "subst" "1.62481E-5" "01943" "CP_000028" "g.148904436C>T" "" "" "" "CP(NM_000096.3):c.1948G>A (p.G650R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149186649C>T" "" "pathogenic" "" "0000274352" "0" "10" "3" "148904434" "148904434" "subst" "0.0440388" "01943" "CP_000027" "g.148904434T>G" "" "" "" "CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149186647T>G" "" "benign" "" "0000274353" "0" "30" "3" "148899900" "148899900" "subst" "0.000475189" "01943" "CP_000019" "g.148899900C>T" "" "" "" "CP(NM_000096.3):c.2446G>A (p.V816I), CP(NM_000096.4):c.2446G>A (p.V816I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149182113C>T" "" "likely benign" "" "0000274354" "0" "30" "3" "148897433" "148897433" "subst" "0.00159369" "01943" "CP_000014" "g.148897433G>A" "" "" "" "CP(NM_000096.3):c.2571C>T (p.Y857=), CP(NM_000096.4):c.2571C>T (p.Y857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149179646G>A" "" "likely benign" "" "0000274355" "0" "30" "3" "148895648" "148895648" "subst" "0.000751898" "01943" "CP_000008" "g.148895648G>A" "" "" "" "CP(NM_000096.3):c.2997C>T (p.H999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149177861G>A" "" "likely benign" "" "0000274356" "0" "50" "3" "148895647" "148895647" "subst" "0.000276346" "01943" "CP_000007" "g.148895647C>T" "" "" "" "CP(NM_000096.3):c.2998G>A (p.G1000S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149177860C>T" "" "VUS" "" "0000274357" "0" "50" "3" "148894088" "148894088" "subst" "0.000134119" "01943" "CP_000006" "g.148894088C>T" "" "" "" "CP(NM_000096.3):c.3130G>A (p.D1044N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149176301C>T" "" "VUS" "" "0000274358" "0" "30" "3" "148930285" "148930285" "subst" "0.00145493" "01943" "CP_000044" "g.148930285G>T" "" "" "" "CP(NM_000096.3):c.347C>A (p.P116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149212498G>T" "" "likely benign" "" "0000274359" "0" "10" "3" "148930218" "148930218" "subst" "0.130574" "01943" "CP_000042" "g.148930218G>A" "" "" "" "CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149212431G>A" "" "benign" "" "0000274360" "0" "30" "3" "148928045" "148928045" "subst" "4.0626E-6" "01943" "CP_000041" "g.148928045G>T" "" "" "" "CP(NM_000096.3):c.516C>A (p.G172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149210258G>T" "" "likely benign" "" "0000274361" "0" "30" "3" "148939574" "148939574" "subst" "0" "01943" "CP_000047" "g.148939574C>T" "" "" "" "CP(NM_000096.3):c.6G>A (p.K2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149221787C>T" "" "likely benign" "" "0000274362" "0" "10" "3" "148925418" "148925418" "subst" "0.0379466" "01943" "CP_000040" "g.148925418G>A" "" "" "" "CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149207631G>A" "" "benign" "" "0000277727" "0" "50" "3" "148876534" "148876534" "subst" "0.00065911" "02330" "HPS3_000018" "g.148876534G>A" "" "" "" "HPS3(NM_032383.5):c.1773G>A (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149158747G>A" "" "VUS" "" "0000277728" "0" "10" "3" "148878015" "148878015" "subst" "0.0031065" "02330" "HPS3_000019" "g.148878015G>A" "" "" "" "HPS3(NM_032383.4):c.2055G>A (p.L685=), HPS3(NM_032383.5):c.2055G>A (p.L685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149160228G>A" "" "benign" "" "0000277729" "0" "10" "3" "148847746" "148847746" "subst" "0.000243925" "02330" "HPS3_000009" "g.148847746C>G" "" "" "" "HPS3(NM_032383.5):c.217+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149129959C>G" "" "benign" "" "0000277730" "0" "50" "3" "148880109" "148880109" "subst" "0" "02330" "HPS3_000020" "g.148880109T>C" "" "" "" "HPS3(NM_032383.5):c.2281T>C (p.S761P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149162322T>C" "" "VUS" "" "0000277731" "0" "30" "3" "148884923" "148884923" "subst" "0.000635381" "02330" "HPS3_000022" "g.148884923C>T" "" "" "" "HPS3(NM_032383.5):c.2692C>T (p.R898C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149167136C>T" "" "likely benign" "" "0000277733" "0" "50" "3" "148857972" "148857972" "subst" "1.21862E-5" "02330" "HPS3_000010" "g.148857972G>A" "" "" "" "HPS3(NM_032383.5):c.399G>A (p.S133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149140185G>A" "" "VUS" "" "0000277736" "0" "10" "3" "148859000" "148859000" "del" "0" "02330" "HPS3_000013" "g.148859000del" "" "" "" "HPS3(NM_032383.5):c.884+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149141213del" "" "benign" "" "0000285129" "0" "10" "3" "148885789" "148885789" "dup" "0" "02326" "CP_000004" "g.148885789dup" "" "" "" "HPS3(NM_032383.5):c.2887+19dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149168002dup" "" "benign" "" "0000285130" "0" "30" "3" "148859000" "148859000" "del" "0" "02326" "HPS3_000013" "g.148859000del" "" "" "" "HPS3(NM_032383.5):c.884+25delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149141213del" "" "likely benign" "" "0000289173" "0" "30" "3" "148878015" "148878015" "subst" "0.0031065" "01943" "HPS3_000019" "g.148878015G>A" "" "" "" "HPS3(NM_032383.4):c.2055G>A (p.L685=), HPS3(NM_032383.5):c.2055G>A (p.L685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149160228G>A" "" "likely benign" "" "0000289174" "0" "10" "3" "148881674" "148881674" "subst" "0.00134925" "01943" "HPS3_000021" "g.148881674G>A" "" "" "" "HPS3(NM_032383.4):c.2527G>A (p.V843I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149163887G>A" "" "benign" "" "0000518240" "0" "30" "3" "148847714" "148847714" "subst" "2.77412E-5" "01943" "CP_000049" "g.148847714C>T" "" "" "" "HPS3(NM_032383.4):c.204C>T (p.A68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149129927C>T" "" "likely benign" "" "0000518241" "0" "30" "3" "148858863" "148858863" "subst" "0" "01943" "CP_000050" "g.148858863C>T" "" "" "" "HPS3(NM_032383.4):c.772C>T (p.L258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149141076C>T" "" "likely benign" "" "0000518242" "0" "10" "3" "148859000" "148859000" "dup" "0" "02330" "CP_000051" "g.148859000dup" "" "" "" "HPS3(NM_032383.5):c.884+25dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149141213dup" "" "benign" "" "0000518243" "0" "30" "3" "148863214" "148863214" "subst" "0" "01943" "CP_000052" "g.148863214A>G" "" "" "" "HPS3(NM_032383.4):c.1044A>G (p.L348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149145427A>G" "" "likely benign" "" "0000518244" "0" "50" "3" "148877978" "148877978" "subst" "9.35949E-5" "01943" "CP_000053" "g.148877978C>T" "" "" "" "HPS3(NM_032383.4):c.2018C>T (p.S673L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149160191C>T" "" "VUS" "" "0000518245" "0" "30" "3" "148880562" "148880562" "subst" "0.000471664" "01943" "CP_000054" "g.148880562T>C" "" "" "" "HPS3(NM_032383.4):c.2378T>C (p.V793A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149162775T>C" "" "likely benign" "" "0000518246" "0" "30" "3" "148889904" "148889904" "subst" "3.65738E-5" "01943" "CP_000055" "g.148889904G>A" "" "" "" "HPS3(NM_032383.4):c.2910G>A (p.V970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149172117G>A" "" "likely benign" "" "0000518247" "0" "10" "3" "148891521" "148891521" "subst" "0.00200833" "01943" "CP_000005" "g.148891521T>C" "" "" "" "CP(NM_000096.3):c.3182-4A>G, CP(NM_000096.4):c.3182-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149173734T>C" "" "benign" "" "0000518248" "0" "50" "3" "148896253" "148896253" "subst" "1.6258E-5" "02327" "CP_000056" "g.148896253C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149178466C>T" "" "VUS" "" "0000518249" "0" "10" "3" "148896430" "148896430" "subst" "0.295096" "02327" "CP_000048" "g.148896430A>G" "" "" "" "CP(NM_000096.3):c.2662-12T>C, CP(NM_000096.4):c.2662-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149178643A>G" "" "benign" "" "0000518251" "0" "30" "3" "148899773" "148899777" "dup" "0" "02329" "CP_000057" "g.148899773_148899777dup" "" "" "" "CP(NM_000096.4):c.2554+15_2554+19dupGGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149181986_149181990dup" "" "likely benign" "" "0000518252" "0" "10" "3" "148899775" "148899775" "subst" "0.0313602" "02327" "CP_000017" "g.148899775C>T" "" "" "" "CP(NM_000096.4):c.2554+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149181988C>T" "" "benign" "" "0000518253" "0" "30" "3" "148899784" "148899784" "subst" "6.5634E-5" "01943" "CP_000058" "g.148899784G>A" "" "" "" "CP(NM_000096.3):c.2554+8C>T, CP(NM_000096.4):c.2554+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149181997G>A" "" "likely benign" "" "0000518254" "0" "30" "3" "148899784" "148899790" "del" "0.0439439" "02329" "CP_000059" "g.148899784_148899790del" "" "" "" "CP(NM_000096.4):c.2554+2_2554+8delTACTCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149181997_149182003del" "" "likely benign" "" "0000518255" "0" "30" "3" "148899824" "148899824" "subst" "0.00425254" "01943" "CP_000060" "g.148899824G>C" "" "" "" "CP(NM_000096.3):c.2522C>G (p.T841R), CP(NM_000096.4):c.2522C>G (p.T841R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149182037G>C" "" "likely benign" "" "0000518256" "0" "30" "3" "148899824" "148899824" "subst" "0.00425254" "02325" "CP_000060" "g.148899824G>C" "" "" "" "CP(NM_000096.3):c.2522C>G (p.T841R), CP(NM_000096.4):c.2522C>G (p.T841R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149182037G>C" "" "likely benign" "" "0000518257" "0" "10" "3" "148899824" "148899824" "subst" "0.00425254" "02329" "CP_000060" "g.148899824G>C" "" "" "" "CP(NM_000096.3):c.2522C>G (p.T841R), CP(NM_000096.4):c.2522C>G (p.T841R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149182037G>C" "" "benign" "" "0000518258" "0" "30" "3" "148899900" "148899900" "subst" "0.000475189" "02329" "CP_000019" "g.148899900C>T" "" "" "" "CP(NM_000096.3):c.2446G>A (p.V816I), CP(NM_000096.4):c.2446G>A (p.V816I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149182113C>T" "" "likely benign" "" "0000518260" "0" "30" "3" "148901300" "148901300" "subst" "0.00716277" "02327" "CP_000020" "g.148901300C>T" "" "" "" "CP(NM_000096.4):c.2378G>A (p.R793H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183513C>T" "" "likely benign" "" "0000518261" "0" "30" "3" "148901368" "148901368" "subst" "9.43272E-5" "01943" "CP_000061" "g.148901368C>T" "" "" "" "CP(NM_000096.3):c.2310G>A (p.K770=), CP(NM_000096.4):c.2310G>A (p.K770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183581C>T" "" "likely benign" "" "0000518262" "0" "30" "3" "148901391" "148901391" "subst" "0" "02329" "CP_000062" "g.148901391C>A" "" "" "" "CP(NM_000096.4):c.2287G>T (p.V763F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183604C>A" "" "likely benign" "" "0000518263" "0" "10" "3" "148901404" "148901404" "subst" "0" "02327" "CP_000023" "g.148901404A>C" "" "" "" "CP(NM_000096.4):c.2286-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183617A>C" "" "benign" "" "0000518265" "0" "10" "3" "148901406" "148901406" "dup" "0" "01943" "CP_000063" "g.148901406dup" "" "" "" "CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183619dup" "" "benign" "" "0000518266" "0" "10" "3" "148901406" "148901406" "dup" "0" "02329" "CP_000063" "g.148901406dup" "" "" "" "CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183619dup" "" "benign" "" "0000518267" "0" "10" "3" "148901407" "148901407" "del" "0.198776" "01943" "CP_000064" "g.148901407del" "" "" "" "CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183620del" "" "benign" "" "0000518268" "0" "10" "3" "148901407" "148901407" "del" "0.198776" "02329" "CP_000064" "g.148901407del" "" "" "" "CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149183620del" "" "benign" "" "0000518269" "0" "50" "3" "148903153" "148903153" "subst" "0.000219314" "02329" "CP_000026" "g.148903153G>A" "" "" "" "CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149185366G>A" "" "VUS" "" "0000518270" "0" "50" "3" "148904424" "148904424" "subst" "2.8431E-5" "02329" "CP_000065" "g.148904424C>T" "" "" "" "CP(NM_000096.4):c.1960G>A (p.D654N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149186637C>T" "" "VUS" "" "0000518271" "0" "10" "3" "148904434" "148904434" "subst" "0.0440388" "02327" "CP_000027" "g.148904434T>G" "" "" "" "CP(NM_000096.3):c.1950A>C (p.G650=), CP(NM_000096.4):c.1950A>C (p.G650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149186647T>G" "" "benign" "" "0000518272" "0" "30" "3" "148904439" "148904439" "subst" "0.000442769" "01943" "CP_000029" "g.148904439C>T" "" "" "" "CP(NM_000096.3):c.1945G>A (p.A649T), CP(NM_000096.4):c.1945G>A (p.A649T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149186652C>T" "" "likely benign" "" "0000518274" "0" "30" "3" "148905885" "148905885" "subst" "1.21983E-5" "02329" "CP_000067" "g.148905885C>T" "" "" "" "CP(NM_000096.4):c.1818G>A (p.Q606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149188098C>T" "" "likely benign" "" "0000518276" "0" "30" "3" "148916215" "148916215" "subst" "0.0287447" "02327" "CP_000030" "g.148916215G>A" "" "" "" "CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149198428G>A" "" "likely benign" "" "0000518277" "0" "30" "3" "148917542" "148917542" "subst" "0.000125926" "01943" "CP_000068" "g.148917542G>A" "" "" "" "CP(NM_000096.3):c.1458C>T (p.N486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199755G>A" "" "likely benign" "" "0000518278" "0" "30" "3" "148917570" "148917570" "subst" "0.00235598" "02327" "CP_000069" "g.148917570G>A" "" "" "" "CP(NM_000096.4):c.1430C>T (p.P477L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199783G>A" "" "likely benign" "" "0000518279" "0" "30" "3" "148917570" "148917570" "subst" "0.00235598" "02325" "CP_000069" "g.148917570G>A" "" "" "" "CP(NM_000096.4):c.1430C>T (p.P477L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199783G>A" "" "likely benign" "" "0000518280" "0" "30" "3" "148917570" "148917570" "subst" "0.00235598" "02329" "CP_000069" "g.148917570G>A" "" "" "" "CP(NM_000096.4):c.1430C>T (p.P477L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199783G>A" "" "likely benign" "" "0000518281" "0" "30" "3" "148917647" "148917647" "subst" "4.06355E-6" "02329" "CP_000070" "g.148917647A>G" "" "" "" "CP(NM_000096.4):c.1353T>C (p.P451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199860A>G" "" "likely benign" "" "0000518282" "0" "30" "3" "148917664" "148917664" "subst" "0.0107528" "02329" "CP_000071" "g.148917664A>G" "" "" "" "CP(NM_000096.4):c.1349-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199877A>G" "" "likely benign" "" "0000518283" "0" "10" "3" "148919880" "148919880" "subst" "0.00126755" "01943" "CP_000033" "g.148919880A>G" "" "" "" "CP(NM_000096.3):c.1348+9T>C, CP(NM_000096.4):c.1348+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149202093A>G" "" "benign" "" "0000518284" "0" "10" "3" "148919962" "148919962" "subst" "0.00130799" "01943" "CP_000034" "g.148919962A>G" "" "" "" "CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149202175A>G" "" "benign" "" "0000518285" "0" "30" "3" "148924059" "148924059" "subst" "0.000479741" "02329" "CP_000072" "g.148924059C>G" "" "" "" "CP(NM_000096.3):c.1104G>C (p.G368=), CP(NM_000096.4):c.1104G>C (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149206272C>G" "" "likely benign" "" "0000518286" "0" "50" "3" "148925248" "148925248" "subst" "0.000374042" "01943" "CP_000073" "g.148925248G>A" "" "" "" "CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207461G>A" "" "VUS" "" "0000518287" "0" "30" "3" "148925248" "148925248" "subst" "0.000374042" "01804" "CP_000073" "g.148925248G>A" "" "" "" "CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207461G>A" "" "likely benign" "" "0000518288" "0" "30" "3" "148925248" "148925248" "subst" "0.000374042" "02325" "CP_000073" "g.148925248G>A" "" "" "" "CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207461G>A" "" "likely benign" "" "0000518289" "0" "30" "3" "148925248" "148925248" "subst" "0.000374042" "02329" "CP_000073" "g.148925248G>A" "" "" "" "CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207461G>A" "" "likely benign" "" "0000518290" "0" "50" "3" "148925257" "148925257" "subst" "0.000215494" "01943" "CP_000074" "g.148925257C>T" "" "" "" "CP(NM_000096.3):c.929G>A (p.R310H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207470C>T" "" "VUS" "" "0000518291" "0" "50" "3" "148925398" "148925398" "subst" "0.000410937" "01943" "CP_000039" "g.148925398T>C" "" "" "" "CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207611T>C" "" "VUS" "" "0000518292" "0" "30" "3" "148925413" "148925413" "subst" "5.70107E-5" "01943" "CP_000075" "g.148925413C>A" "" "" "" "CP(NM_000096.3):c.782-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207626C>A" "" "likely benign" "" "0000518293" "0" "10" "3" "148925418" "148925418" "subst" "0.0379466" "02327" "CP_000040" "g.148925418G>A" "" "" "" "CP(NM_000096.3):c.782-14C>T, CP(NM_000096.4):c.782-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149207631G>A" "" "benign" "" "0000518294" "0" "10" "3" "148930218" "148930218" "subst" "0.130574" "02327" "CP_000042" "g.148930218G>A" "" "" "" "CP(NM_000096.3):c.394+20C>T, CP(NM_000096.4):c.394+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149212431G>A" "" "benign" "" "0000518295" "0" "30" "3" "148930310" "148930310" "subst" "0.000626108" "02329" "CP_000076" "g.148930310G>A" "" "" "" "CP(NM_000096.4):c.322C>T (p.H108Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149212523G>A" "" "likely benign" "" "0000518296" "0" "30" "3" "148930331" "148930331" "subst" "8.53457E-5" "01943" "CP_000077" "g.148930331T>C" "" "" "" "CP(NM_000096.3):c.301A>G (p.T101A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149212544T>C" "" "likely benign" "" "0000518297" "0" "30" "3" "148930383" "148930383" "subst" "0.000178849" "01943" "CP_000078" "g.148930383A>G" "" "" "" "CP(NM_000096.3):c.249T>C (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149212596A>G" "" "likely benign" "" "0000518298" "0" "30" "3" "148939487" "148939487" "subst" "0.000260865" "01943" "CP_000079" "g.148939487C>T" "" "" "" "CP(NM_000096.3):c.93G>A (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149221700C>T" "" "likely benign" "" "0000608377" "0" "90" "3" "148859081" "148859081" "subst" "0" "02330" "CP_000080" "g.148859081G>A" "" "" "" "HPS3(NM_032383.5):c.885-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149141294G>A" "" "pathogenic" "" "0000608378" "0" "30" "3" "148899784" "148899784" "subst" "6.5634E-5" "02329" "CP_000058" "g.148899784G>A" "" "" "" "CP(NM_000096.3):c.2554+8C>T, CP(NM_000096.4):c.2554+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149181997G>A" "" "likely benign" "" "0000608379" "0" "30" "3" "148917507" "148917507" "subst" "0.000410162" "01943" "CP_000084" "g.148917507T>C" "" "" "" "CP(NM_000096.3):c.1493A>G (p.Q498R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149199720T>C" "" "likely benign" "" "0000608380" "0" "30" "3" "148920020" "148920020" "subst" "0.000174875" "01943" "CP_000085" "g.148920020G>T" "" "" "" "CP(NM_000096.3):c.1217C>A (p.A406E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149202233G>T" "" "likely benign" "" "0000621196" "0" "50" "3" "148884864" "148884864" "subst" "3.27043E-5" "01943" "CP_000081" "g.148884864C>T" "" "" "" "HPS3(NM_032383.4):c.2633C>T (p.P878L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149167077C>T" "" "VUS" "" "0000621197" "0" "50" "3" "148895723" "148895723" "subst" "0" "01943" "CP_000082" "g.148895723C>T" "" "" "" "CP(NM_000096.3):c.2922G>A (p.M974I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149177936C>T" "" "VUS" "" "0000621198" "0" "30" "3" "148897433" "148897433" "subst" "0.00159369" "02329" "CP_000014" "g.148897433G>A" "" "" "" "CP(NM_000096.3):c.2571C>T (p.Y857=), CP(NM_000096.4):c.2571C>T (p.Y857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149179646G>A" "" "likely benign" "" "0000621199" "0" "30" "3" "148903120" "148903120" "subst" "0" "02329" "CP_000083" "g.148903120C>G" "" "" "" "CP(NM_000096.4):c.2191G>C (p.E731Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149185333C>G" "" "likely benign" "" "0000651100" "1" "90" "3" "148863334" "148863334" "subst" "8.1277E-5" "03575" "HPS3_000002" "g.148863334G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs201227603}" "Germline" "" "rs201227603" "0" "" "" "g.149145547G>A" "" "pathogenic" "" "0000651101" "1" "50" "3" "148880043" "148880043" "subst" "0.00965097" "03575" "HPS3_000023" "g.148880043G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; {DB:CLININrs78336249}" "Germline" "" "rs78336249" "0" "" "" "g.149162256G>A" "" "VUS" "" "0000651102" "1" "50" "3" "148890992" "148890992" "subst" "0" "03575" "CP_000086" "g.148890992T>G" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs13098532}" "Germline" "" "rs13098532" "0" "" "" "g.149173205T>G" "" "VUS" "" "0000654825" "0" "50" "3" "148896396" "148896396" "subst" "0.00152985" "02327" "CP_000013" "g.148896396C>G" "" "" "" "CP(NM_000096.4):c.2684G>C (p.G895A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149178609C>G" "" "VUS" "" "0000654826" "0" "30" "3" "148930257" "148930257" "subst" "1.21947E-5" "02329" "CP_000087" "g.148930257A>T" "" "" "" "CP(NM_000096.4):c.375T>A (p.T125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149212470A>T" "" "likely benign" "" "0000667194" "3" "90" "3" "148884967" "148884967" "del" "0" "01807" "HPS3_000024" "g.148884967del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.149167180del" "" "pathogenic" "" "0000676858" "0" "50" "3" "148895647" "148895647" "subst" "0.000276346" "02327" "CP_000007" "g.148895647C>T" "" "" "" "CP(NM_000096.3):c.2998G>A (p.G1000S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719241" "0" "30" "3" "148858059" "148858059" "subst" "0.000117773" "01943" "CP_000088" "g.148858059G>A" "" "" "" "HPS3(NM_032383.4):c.486G>A (p.K162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719242" "0" "70" "3" "148901252" "148901252" "subst" "0" "01943" "CP_000089" "g.148901252C>T" "" "" "" "CP(NM_000096.3):c.2425+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719243" "0" "30" "3" "148901368" "148901368" "subst" "9.43272E-5" "02329" "CP_000061" "g.148901368C>T" "" "" "" "CP(NM_000096.3):c.2310G>A (p.K770=), CP(NM_000096.4):c.2310G>A (p.K770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719244" "0" "30" "3" "148901406" "148901406" "dup" "0" "02325" "CP_000063" "g.148901406dup" "" "" "" "CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719245" "0" "50" "3" "148903153" "148903153" "subst" "0.000219314" "01943" "CP_000026" "g.148903153G>A" "" "" "" "CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719246" "0" "50" "3" "148916273" "148916273" "subst" "0" "01943" "CP_000090" "g.148916273G>C" "" "" "" "CP(NM_000096.3):c.1594C>G (p.P532A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719247" "0" "30" "3" "148919961" "148919961" "subst" "0" "01943" "CP_000091" "g.148919961G>T" "" "" "" "CP(NM_000096.3):c.1276C>A (p.R426S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719248" "0" "50" "3" "148925308" "148925308" "subst" "0" "02325" "CP_000092" "g.148925308T>C" "" "" "" "CP(NM_000096.4):c.878A>G (p.D293G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801045" "0" "50" "3" "148876530" "148876530" "subst" "0.000101712" "01943" "CP_000093" "g.148876530G>A" "" "" "" "HPS3(NM_032383.4):c.1769G>A (p.R590H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801046" "0" "30" "3" "148877979" "148877979" "subst" "4.06951E-6" "01943" "CP_000094" "g.148877979G>A" "" "" "" "HPS3(NM_032383.4):c.2019G>A (p.S673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801047" "0" "50" "3" "148897393" "148897393" "subst" "0.000987757" "01943" "CP_000095" "g.148897393C>T" "" "" "" "CP(NM_000096.3):c.2611G>A (p.D871N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801048" "0" "30" "3" "148903017" "148903017" "subst" "0" "01943" "CP_000096" "g.148903017G>A" "" "" "" "CP(NM_000096.3):c.2285+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801049" "0" "50" "3" "148919979" "148919979" "subst" "8.12724E-6" "02327" "CP_000097" "g.148919979A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801050" "0" "30" "3" "148930385" "148930385" "subst" "8.12935E-6" "01943" "CP_000098" "g.148930385T>A" "" "" "" "CP(NM_000096.3):c.247A>T (p.T83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000834595" "3" "90" "3" "148875300" "148875300" "subst" "0" "00006" "HPS3_000025" "g.148875300T>C" "" "{PMID:Lasseaux 2018:29345414}" "" "" "" "Germline" "" "" "0" "" "" "g.149157513T>C" "" "pathogenic (recessive)" "" "0000834596" "3" "90" "3" "148884859" "148884859" "del" "0" "00006" "HPS3_000026" "g.148884859del" "" "{PMID:Lasseaux 2018:29345414}" "" "" "" "Germline" "" "" "0" "" "" "g.149167072del" "" "pathogenic (recessive)" "" "0000850165" "0" "30" "3" "148858800" "148858800" "subst" "4.06616E-6" "01943" "CP_000099" "g.148858800T>C" "" "" "" "HPS3(NM_032383.4):c.713-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850166" "0" "30" "3" "148884898" "148884898" "subst" "1.63059E-5" "02330" "CP_000100" "g.148884898C>T" "" "" "" "HPS3(NM_032383.5):c.2667C>T (p.A889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850167" "0" "50" "3" "148896276" "148896276" "subst" "0" "01943" "CP_000101" "g.148896276A>T" "" "" "" "CP(NM_000096.3):c.2804T>A (p.I935N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850168" "0" "30" "3" "148905968" "148905968" "subst" "0" "01943" "CP_000102" "g.148905968A>G" "" "" "" "CP(NM_000096.3):c.1735T>C (p.Y579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850169" "0" "30" "3" "148924059" "148924059" "subst" "0.000479741" "01943" "CP_000072" "g.148924059C>G" "" "" "" "CP(NM_000096.3):c.1104G>C (p.G368=), CP(NM_000096.4):c.1104G>C (p.G368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858841" "0" "50" "3" "148903153" "148903153" "subst" "0.000219314" "02327" "CP_000026" "g.148903153G>A" "" "" "" "CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885598" "0" "30" "3" "148847561" "148847561" "subst" "0.000824849" "02326" "CP_000103" "g.148847561C>T" "" "" "" "HPS3(NM_032383.5):c.51C>T (p.P17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885599" "0" "30" "3" "148858995" "148859000" "dup" "0" "02330" "CP_000104" "g.148858995_148859000dup" "" "" "" "HPS3(NM_032383.5):c.884+20_884+25dupTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885600" "0" "50" "3" "148924031" "148924031" "subst" "9.35271E-5" "02327" "CP_000036" "g.148924031C>T" "" "" "" "CP(NM_000096.4):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885601" "0" "50" "3" "148925257" "148925257" "subst" "0.000215494" "02327" "CP_000074" "g.148925257C>T" "" "" "" "CP(NM_000096.3):c.929G>A (p.R310H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885602" "0" "70" "3" "148930468" "148930468" "subst" "6.51105E-5" "02327" "CP_000105" "g.148930468T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911845" "0" "70" "3" "148868411" "148868411" "subst" "3.65643E-5" "02325" "HPS3_000006" "g.148868411C>T" "" "" "" "HPS3(NM_032383.5):c.1189C>T (p.R397W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923854" "0" "30" "3" "148847668" "148847668" "subst" "0.0011778" "02330" "CP_000106" "g.148847668A>G" "" "" "" "HPS3(NM_032383.5):c.158A>G (p.Q53R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923855" "0" "30" "3" "148930222" "148930222" "subst" "0" "02327" "CP_000107" "g.148930222C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928727" "0" "30" "3" "148919962" "148919962" "subst" "0.00130799" "02327" "CP_000034" "g.148919962A>G" "" "" "" "CP(NM_000096.3):c.1275T>C (p.Y425=), CP(NM_000096.4):c.1275T>C (p.Y425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000939861" "3" "70" "3" "148876559" "148876559" "subst" "0" "00006" "HPS3_000027" "g.148876559C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.149158772C>T" "" "likely pathogenic (recessive)" "" "0000948052" "0" "30" "3" "148880024" "148880024" "subst" "0.000931311" "02326" "CP_000108" "g.148880024C>T" "" "" "" "HPS3(NM_032383.5):c.2196C>T (p.H732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948053" "0" "30" "3" "148903172" "148903172" "subst" "0" "02327" "CP_000109" "g.148903172A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958916" "3" "70" "3" "148884967" "148884967" "del" "0" "00006" "HPS3_000024" "g.148884967del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.149167180del" "" "likely pathogenic (recessive)" "ACMG" "0000962518" "0" "30" "3" "148858165" "148858165" "subst" "0.000262325" "02326" "CP_000110" "g.148858165G>A" "" "" "" "HPS3(NM_032383.5):c.592G>A (p.V198I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975627" "0" "30" "3" "148896287" "148896287" "subst" "0.00203196" "01804" "CP_000012" "g.148896287T>C" "" "" "" "CP(NM_000096.4):c.2793A>G (p.(Leu931=), p.L931=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975628" "0" "30" "3" "148920043" "148920043" "subst" "0.00336735" "02327" "CP_000035" "g.148920043A>T" "" "" "" "CP(NM_000096.4):c.1209-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975629" "0" "30" "3" "148924064" "148924064" "subst" "0.0033906" "02327" "CP_000037" "g.148924064G>A" "" "" "" "CP(NM_000096.4):c.1099C>T (p.R367C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013828" "0" "30" "3" "148897433" "148897433" "subst" "0.00159369" "02327" "CP_000014" "g.148897433G>A" "" "" "" "CP(NM_000096.3):c.2571C>T (p.Y857=), CP(NM_000096.4):c.2571C>T (p.Y857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013829" "0" "10" "3" "148901407" "148901407" "del" "0.198776" "02327" "CP_000064" "g.148901407del" "" "" "" "CP(NM_000096.3):c.2286-15delG, CP(NM_000096.4):c.2286-15delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024733" "0" "10" "3" "148895654" "148895654" "subst" "0.033841" "02327" "CP_000009" "g.148895654A>G" "" "" "" "CP(NM_000096.3):c.2991T>C (p.H997=), CP(NM_000096.4):c.2991T>C (p.H997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024734" "0" "50" "3" "148925398" "148925398" "subst" "0.000410937" "02327" "CP_000039" "g.148925398T>C" "" "" "" "CP(NM_000096.3):c.788A>G (p.N263S), CP(NM_000096.4):c.788A>G (p.N263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029755" "0" "30" "3" "148885661" "148885661" "subst" "0" "03779" "HPS3_000028" "g.148885661T>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001033752" "0" "50" "3" "148903153" "148903153" "subst" "0.000219314" "01804" "CP_000026" "g.148903153G>A" "" "" "" "CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045883" "0" "50" "3" "148894054" "148894054" "subst" "0" "02327" "CP_000112" "g.148894054G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045884" "0" "50" "3" "148939510" "148939510" "subst" "0" "02325" "CP_000113" "g.148939510A>G" "" "" "" "CP(NM_000096.4):c.70T>C (p.Y24H)" "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 HPS3 ## Count = 202 "{{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}}" "0000039710" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000039711" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000039712" "00009601" "90" "1163" "1" "1163" "1" "c.1163+1G>A" "r.spl" "p.?" "5i" "0000039713" "00009601" "90" "1163" "1" "1163" "1" "c.1163+1G>A" "r.spl" "p.?" "5i" "0000039714" "00009601" "90" "1163" "1" "1163" "1" "c.1163+1G>A" "r.spl" "p.?" "5i" "0000039715" "00009601" "90" "2589" "1" "2589" "1" "c.2589+1G>C" "r.2482_2589del" "p.del" "14i" "0000039716" "00009601" "90" "2888" "-1612" "2888" "-1612" "c.2888-1612G>A" "r.2887_2888ins2888-1610_2888-1522" "p.(fs*)" "16i" "0000039739" "00009601" "90" "1691" "2" "1691" "2" "c.1691+2T>G" "r.spl" "p.?" "9i" "0000039740" "00009601" "90" "2482" "-2" "2482" "-2" "c.2482-2A>G" "r.spl" "p.?" "13i" "0000039741" "00009601" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Arg397Trp)" "6" "0000130294" "00009601" "70" "1153" "0" "1160" "0" "c.1153_1160del" "r.(?)" "p.(Val385Lysfs*2)" "" "0000148352" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000148353" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000148354" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000148355" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000148356" "00009601" "99" "-2993" "0" "217" "690" "c.-2993_217+690del" "r.0" "p.0" "1_1i" "0000148358" "00009601" "90" "1163" "1" "1163" "1" "c.1163+1G>A" "r.spl" "p.?" "5i" "0000148359" "00009601" "90" "1163" "1" "1163" "1" "c.1163+1G>A" "r.spl" "p.?" "5i" "0000246140" "00009601" "10" "1366" "0" "1366" "0" "c.1366A>G" "r.(?)" "p.(Ile456Val)" "" "0000246188" "00009601" "90" "1378" "0" "1378" "0" "c.1378A>T" "r.(?)" "p.(Arg460Ter)" "" "0000249754" "00009601" "50" "43450" "0" "43450" "0" "c.*40435A>G" "r.(=)" "p.(=)" "" "0000249924" "00009601" "10" "9436" "0" "9436" "0" "c.*6421A>G" "r.(=)" "p.(=)" "" "0000249951" "00009601" "10" "8660" "0" "8660" "0" "c.*5645A>G" "r.(=)" "p.(=)" "" "0000250194" "00009601" "10" "14412" "0" "14412" "0" "c.*11397del" "r.(?)" "p.(=)" "" "0000250275" "00009601" "30" "32968" "0" "32968" "0" "c.*29953A>G" "r.(=)" "p.(=)" "" "0000250419" "00009601" "30" "9196" "0" "9196" "0" "c.*6181A>C" "r.(=)" "p.(=)" "" "0000250420" "00009601" "30" "12778" "0" "12778" "0" "c.*9763A>C" "r.(=)" "p.(=)" "" "0000250421" "00009601" "30" "14410" "0" "14410" "0" "c.*11395A>C" "r.(=)" "p.(=)" "" "0000250422" "00009601" "30" "32886" "0" "32886" "0" "c.*29871A>G" "r.(=)" "p.(=)" "" "0000250423" "00009601" "30" "33049" "0" "33049" "0" "c.*30034A>T" "r.(=)" "p.(=)" "" "0000251300" "00009601" "10" "970" "7" "970" "7" "c.970+7A>G" "r.(=)" "p.(=)" "" "0000253148" "00009601" "10" "9436" "0" "9436" "0" "c.*6421A>G" "r.(=)" "p.(=)" "" "0000254042" "00009601" "30" "8660" "0" "8660" "0" "c.*5645A>G" "r.(=)" "p.(=)" "" "0000267099" "00009601" "10" "29241" "0" "29241" "0" "c.*26226T>A" "r.(=)" "p.(=)" "" "0000267100" "00009601" "10" "29221" "0" "29221" "0" "c.*26206G>A" "r.(=)" "p.(=)" "" "0000267101" "00009601" "50" "16159" "0" "16159" "0" "c.*13144G>A" "r.(=)" "p.(=)" "" "0000267102" "00009601" "30" "14413" "0" "14413" "0" "c.*11398C>A" "r.(=)" "p.(=)" "" "0000267103" "00009601" "50" "9402" "0" "9402" "0" "c.*6387C>G" "r.(=)" "p.(=)" "" "0000267104" "00009601" "30" "9293" "0" "9293" "0" "c.*6278T>C" "r.(=)" "p.(=)" "" "0000267105" "00009601" "30" "43225" "0" "43225" "0" "c.*40210C>T" "r.(=)" "p.(=)" "" "0000268544" "00009601" "30" "37070" "0" "37070" "0" "c.*34055G>A" "r.(=)" "p.(=)" "" "0000268545" "00009601" "50" "37037" "0" "37037" "0" "c.*34022C>T" "r.(=)" "p.(=)" "" "0000268546" "00009601" "30" "52440" "0" "52440" "0" "c.*49425G>A" "r.(=)" "p.(=)" "" "0000268547" "00009601" "30" "30505" "0" "30505" "0" "c.*27490T>G" "r.(=)" "p.(=)" "" "0000268548" "00009601" "10" "29241" "0" "29241" "0" "c.*26226T>A" "r.(=)" "p.(=)" "" "0000268549" "00009601" "10" "29221" "0" "29221" "0" "c.*26206G>A" "r.(=)" "p.(=)" "" "0000268550" "00009601" "30" "17445" "0" "17445" "0" "c.*14430C>T" "r.(=)" "p.(=)" "" "0000268551" "00009601" "10" "17440" "0" "17440" "0" "c.*14425T>G" "r.(=)" "p.(=)" "" "0000268552" "00009601" "30" "14413" "0" "14414" "0" "c.*11398_*11399del" "r.(=)" "p.(=)" "" "0000268553" "00009601" "10" "14413" "0" "14413" "0" "c.*11398C>A" "r.(=)" "p.(=)" "" "0000268555" "00009601" "10" "14306" "0" "14306" "0" "c.*11291C>T" "r.(=)" "p.(=)" "" "0000268556" "00009601" "30" "12784" "0" "12784" "0" "c.*9769G>C" "r.(=)" "p.(=)" "" "0000268557" "00009601" "10" "12781" "0" "12781" "0" "c.*9766C>T" "r.(=)" "p.(=)" "" "0000268559" "00009601" "50" "9402" "0" "9402" "0" "c.*6387C>G" "r.(=)" "p.(=)" "" "0000268560" "00009601" "30" "9293" "0" "9293" "0" "c.*6278T>C" "r.(=)" "p.(=)" "" "0000268561" "00009601" "30" "8665" "0" "8665" "0" "c.*5650C>T" "r.(=)" "p.(=)" "" "0000268562" "00009601" "30" "4527" "0" "4527" "0" "c.*1512T>C" "r.(=)" "p.(=)" "" "0000268563" "00009601" "10" "43224" "0" "43224" "0" "c.*40209G>A" "r.(=)" "p.(=)" "" "0000268564" "00009601" "10" "38424" "0" "38424" "0" "c.*35409G>A" "r.(=)" "p.(=)" "" "0000268565" "00009601" "50" "38404" "0" "38404" "0" "c.*35389T>C" "r.(=)" "p.(=)" "" "0000274348" "00009601" "30" "37131" "0" "37131" "0" "c.*34116G>A" "r.(=)" "p.(=)" "" "0000274349" "00009601" "10" "29241" "0" "29241" "0" "c.*26226T>A" "r.(=)" "p.(=)" "" "0000274350" "00009601" "10" "29221" "0" "29221" "0" "c.*26206G>A" "r.(=)" "p.(=)" "" "0000274351" "00009601" "90" "17442" "0" "17442" "0" "c.*14427C>T" "r.(=)" "p.(=)" "" "0000274352" "00009601" "10" "17440" "0" "17440" "0" "c.*14425T>G" "r.(=)" "p.(=)" "" "0000274353" "00009601" "30" "12906" "0" "12906" "0" "c.*9891C>T" "r.(=)" "p.(=)" "" "0000274354" "00009601" "30" "10439" "0" "10439" "0" "c.*7424G>A" "r.(=)" "p.(=)" "" "0000274355" "00009601" "30" "8654" "0" "8654" "0" "c.*5639G>A" "r.(=)" "p.(=)" "" "0000274356" "00009601" "50" "8653" "0" "8653" "0" "c.*5638C>T" "r.(=)" "p.(=)" "" "0000274357" "00009601" "50" "7094" "0" "7094" "0" "c.*4079C>T" "r.(=)" "p.(=)" "" "0000274358" "00009601" "30" "43291" "0" "43291" "0" "c.*40276G>T" "r.(=)" "p.(=)" "" "0000274359" "00009601" "10" "43224" "0" "43224" "0" "c.*40209G>A" "r.(=)" "p.(=)" "" "0000274360" "00009601" "30" "41051" "0" "41051" "0" "c.*38036G>T" "r.(=)" "p.(=)" "" "0000274361" "00009601" "30" "52580" "0" "52580" "0" "c.*49565C>T" "r.(=)" "p.(=)" "" "0000274362" "00009601" "10" "38424" "0" "38424" "0" "c.*35409G>A" "r.(=)" "p.(=)" "" "0000277727" "00009601" "50" "1773" "0" "1773" "0" "c.1773G>A" "r.(?)" 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"p.(=)" "" "0000948053" "00009601" "30" "16178" "0" "16178" "0" "c.*13163A>G" "r.(=)" "p.(=)" "" "0000958916" "00009601" "70" "2736" "0" "2736" "0" "c.2736del" "r.(?)" "p.(Glu913ArgfsTer15)" "" "0000962518" "00009601" "30" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Val198Ile)" "" "0000975627" "00009601" "30" "9293" "0" "9293" "0" "c.*6278T>C" "r.(=)" "p.(=)" "" "0000975628" "00009601" "30" "33049" "0" "33049" "0" "c.*30034A>T" "r.(=)" "p.(=)" "" "0000975629" "00009601" "30" "37070" "0" "37070" "0" "c.*34055G>A" "r.(=)" "p.(=)" "" "0001013828" "00009601" "30" "10439" "0" "10439" "0" "c.*7424G>A" "r.(=)" "p.(=)" "" "0001013829" "00009601" "10" "14413" "0" "14413" "0" "c.*11398del" "r.(?)" "p.(=)" "" "0001024733" "00009601" "10" "8660" "0" "8660" "0" "c.*5645A>G" "r.(=)" "p.(=)" "" "0001024734" "00009601" "50" "38404" "0" "38404" "0" "c.*35389T>C" "r.(=)" "p.(=)" "" "0001029755" "00009601" "30" "2797" "-19" "2797" "-19" "c.2797-19T>A" "r.(?)" "p.(?)" "" "0001033752" "00009601" "50" "16159" "0" "16159" "0" "c.*13144G>A" "r.(=)" "p.(=)" "" "0001045883" "00009601" "50" "7060" "0" "7060" "0" "c.*4045G>A" "r.(=)" "p.(=)" "" "0001045884" "00009601" "50" "52516" "0" "52516" "0" "c.*49501A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000019464" "0000039710" "0000019465" "0000039711" "0000019466" "0000039712" "0000019467" "0000039713" "0000019467" "0000039739" "0000019468" "0000039714" "0000019468" "0000039740" "0000019469" "0000039715" "0000019469" "0000039741" "0000019470" "0000039716" "0000081208" "0000130294" "0000090264" "0000148352" "0000090265" "0000148353" "0000090266" "0000148354" "0000090267" "0000148355" "0000090268" "0000148356" "0000090269" "0000148358" "0000090270" "0000148359" "0000294411" "0000651100" "0000294412" "0000651101" "0000294413" "0000651102" "0000303799" "0000667194" "0000401375" "0000834595" "0000401376" "0000834596" "0000441919" "0000939861" "0000449149" "0000958916"