### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OBSL1) # 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}}" "OBSL1" "obscurin-like 1" "2" "q35" "unknown" "NG_016977.2" "UD_132084559939" "" "https://www.LOVD.nl/OBSL1" "" "1" "29092" "23363" "610991" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/OBSL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-27 09:02:54" "00006" "2025-12-05 13:23:08" ## 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}}" "00025753" "OBSL1" "transcript variant 1" "003" "NM_015311.2" "" "NP_056126.1" "" "" "" "-314" "5798" "5691" "220436268" "220415450" "00006" "2022-10-27 09:01:01" "" "" ## 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" "00877" "3M2" "3M syndrome, type 2 (3M2)" "AR" "612921" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05910" "3M" "3M syndrome (3M)" "" "" "" "" "" "00006" "2021-03-22 14:14:27" "00006" "2021-12-10 21:51:32" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OBSL1" "00877" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050508" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00292609" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292610" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292611" "" "" "" "77" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292612" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292613" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292614" "" "" "" "61" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295469" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304790" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331533" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "09DG00617" "00331534" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "09DG00622 , 09DG00623" "00331535" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (2F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "10DG0406 ,10DG0407 , 10DG0408" "00331536" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "12DG0010" "00331537" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (3M)" "M" "yes" "" "" "0" "" "" "Arab" "15DG0323 , 15DG0324 , 16DG0417" "00375202" "" "" "" "2" "" "03894" "" "5-generation family, 2 affected (1M, 1F), 2 affected individuals are children of consanguineous parents." "M" "yes" "China" "" "0" "" "" "Chinese" "" "00465840" "" "" "" "2" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 2 affected" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam34" "00469828" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00470655" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat16" "00470699" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "F" "" "Poland" "" "0" "" "" "" "Pat60" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00050508" "00198" "00292609" "00198" "00292610" "00198" "00292611" "00198" "00292612" "00198" "00292613" "00198" "00292614" "00198" "00295469" "00198" "00304790" "00198" "00331533" "05517" "00331534" "05517" "00331535" "05517" "00331536" "05517" "00331537" "05517" "00375202" "05910" "00465840" "00198" "00469828" "05517" "00470655" "07210" "00470699" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00877, 05517, 05910, 07210 ## Count = 11 "{{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}}" "0000037120" "00198" "00050508" "00006" "Isolated (sporadic)" "" "coarse hair, cupped ear, downslanted palpebral fissures, global developmental delay, prominent occiput, frontal bossing, increased body weight, soft doughy skin, thin upper lip vermilion, smooth philtrum, tapered finger, pes planus" "" "" "" "" "" "" "" "" "" "" "" "0000249725" "05517" "00331533" "00000" "Familial, autosomal recessive" "" "Short stature, Joint laxity" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000249726" "05517" "00331534" "00000" "Familial, autosomal recessive" "" "Short stature, Joint laxity" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000249727" "05517" "00331535" "00000" "Familial, autosomal recessive" "" "Short stature" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000249728" "05517" "00331536" "00000" "Familial, autosomal recessive" "" "Anteverted nares, Depressed nasal bridge, Triangular face, Thin upper lip vermilion" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000249729" "05517" "00331537" "00000" "Familial, autosomal recessive" "" "Ulcerative colitis, Bloody diarrhea, Short stature, Frontal bossing, Triangular face, Antever No" "" "" "" "" "" "" "" "" "Slender bone dysplasia group" "skeletal dysplasia" "" "0000270412" "05910" "00375202" "03894" "Familial, autosomal recessive" "" "Short stature" "" "" "" "" "" "" "" "" "3M Syndrome" "Short stature" "" "0000351287" "00198" "00465840" "00006" "Familial, autosomal recessive" "" "see paper; ..., Skin and joint laxity, severe intrauterine growth restriction, proportionate short stature, dysmorphic features (triangular face, upswept frontal hair, hypoplastic midface, prominent eyes, low nasal bridge, upturned nose, long philtrum, full lips)" "" "" "" "" "" "" "" "" "3M2" "joint laxity" "" "0000354973" "05517" "00469828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "3M2" "skeletal dysplasia" "" "0000355549" "07210" "00470655" "00006" "Isolated (sporadic)" "17y" "see paper; ... scoliosis, no other skeletal defects; no symptoms;" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000355593" "07210" "00470699" "00006" "Isolated (sporadic)" "17y" "see paper; ... scoliosis, no other skeletal defects; back pain; depression; no physical activity" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050453" "00050508" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000293777" "00292609" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293778" "00292610" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293779" "00292611" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293780" "00292612" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293781" "00292613" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293782" "00292614" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296637" "00295469" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305919" "00304790" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332752" "00331533" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332753" "00331534" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332754" "00331535" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332755" "00331536" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332756" "00331537" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000376396" "00375202" "1" "03894" "03894" "2021-05-30 08:48:09" "" "" "SEQ-NG" "DNA" "Peripheral blood" "" "0000467491" "00465840" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000471496" "00469828" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000472322" "00470655" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472366" "00470699" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000050453" "OBSL1" "0000332752" "OBSL1" "0000332753" "OBSL1" "0000332754" "OBSL1" "0000332755" "OBSL1" "0000332756" "OBSL1" "0000376396" "OBSL1" ## 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 = 188 "{{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}}" "0000079433" "21" "90" "2" "220431609" "220431609" "subst" "4.50414E-5" "00006" "OBSL1_000001" "g.220431609C>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.219566887C>G" "" "pathogenic" "" "0000079666" "11" "90" "2" "220432804" "220432804" "subst" "0.00137924" "00006" "OBSL1_000002" "g.220432804G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.219568082G>A" "" "pathogenic" "" "0000248507" "0" "10" "2" "220420956" "220420956" "subst" "0.991655" "02325" "OBSL1_000023" "g.220420956A>G" "" "" "" "OBSL1(NM_015311.3):c.4395T>C (p.D1465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556234A>G" "" "benign" "" "0000248508" "0" "10" "2" "220422774" "220422774" "subst" "0.433985" "02325" "OBSL1_000004" "g.220422774A>G" "" "" "" "OBSL1(NM_015311.3):c.3561T>C (p.P1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219558052A>G" "" "benign" "" "0000248509" "0" "10" "2" "220435034" "220435034" "subst" "0.865061" "02325" "OBSL1_000011" "g.220435034A>G" "" "" "" "OBSL1(NM_015311.3):c.921T>C (p.L307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219570312A>G" "" "benign" "" "0000248997" "0" "10" "2" "220432709" "220432709" "subst" "0.422781" "02325" "OBSL1_000010" "g.220432709A>T" "" "" "" "OBSL1(NM_015311.3):c.1283-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219567987A>T" "" "benign" "" "0000296658" "0" "10" "2" "220430203" "220430203" "subst" "0.867234" "02325" "OBSL1_000008" "g.220430203C>T" "" "" "" "OBSL1(NM_015311.3):c.2168G>A (p.R723K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219565481C>T" "" "benign" "" "0000296659" "0" "10" "2" "220427395" "220427395" "subst" "0.215887" "02325" "OBSL1_000007" "g.220427395G>A" "" "" "" "OBSL1(NM_015311.3):c.2682C>T (p.D894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219562673G>A" "" "benign" "" "0000296660" "0" "10" "2" "220427347" "220427347" "subst" "0.223872" "02325" "OBSL1_000006" "g.220427347G>T" "" "" "" "OBSL1(NM_015311.3):c.2730C>A (p.A910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219562625G>T" "" "benign" "" "0000296661" "0" "10" "2" "220421417" "220421417" "subst" "0.738531" "02325" "OBSL1_000028" "g.220421417C>G" "" "" "" "OBSL1(NM_015311.3):c.4095G>C (p.E1365D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556695C>G" "" "benign" "" "0000296662" "0" "10" "2" "220420785" "220420785" "subst" "0.259116" "02325" "OBSL1_000019" "g.220420785G>A" "" "" "" "OBSL1(NM_015311.3):c.4566C>T (p.C1522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556063G>A" "" "benign" "" "0000296663" "0" "10" "2" "220419339" "220419339" "subst" "0.987243" "02325" "CHPF_000014" "g.220419339T>C" "" "" "" "OBSL1(NM_015311.3):c.4733A>G (p.Q1578R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219554617T>C" "" "benign" "" "0000296664" "0" "10" "2" "220417266" "220417266" "subst" "0.430916" "02325" "CHPF_000006" "g.220417266C>T" "" "" "" "OBSL1(NM_015311.3):c.5300G>A (p.R1767Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552544C>T" "" "benign" "" "0000296665" "0" "10" "2" "220416942" "220416942" "subst" "0.446175" "02325" "CHPF_000005" "g.220416942G>C" "" "" "" "OBSL1(NM_015311.3):c.5309-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552220G>C" "" "benign" "" "0000300505" "0" "30" "2" "220420990" "220420990" "subst" "0.00851485" "02326" "OBSL1_000024" "g.220420990C>T" "" "" "" "OBSL1(NM_001173431.1):c.4361G>A (p.(Arg1454Gln)), OBSL1(NM_015311.3):c.4361G>A (p.R1454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556268C>T" "" "likely benign" "" "0000300506" "0" "30" "2" "220417356" "220417356" "subst" "0.00134096" "02326" "CHPF_000008" "g.220417356G>T" "" "" "" "OBSL1(NM_001173431.1):c.*3363C>A (p.(=)), OBSL1(NM_015311.3):c.5210C>A (p.T1737K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552634G>T" "" "likely benign" "" "0000304723" "0" "50" "2" "220431710" "220431710" "subst" "1.62632E-5" "01943" "OBSL1_000009" "g.220431710G>A" "" "" "" "OBSL1(NM_015311.2):c.1976C>T (p.P659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219566988G>A" "" "VUS" "" "0000304724" "0" "30" "2" "220417309" "220417309" "subst" "0" "01943" "CHPF_000007" "g.220417309G>A" "" "" "" "OBSL1(NM_015311.2):c.5257C>T (p.L1753F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552587G>A" "" "likely benign" "" "0000328120" "0" "50" "2" "220416508" "220416508" "subst" "0" "01804" "CHPF_000004" "g.220416508T>C" "" "" "" "OBSL1(NM_001173431.1):c.*4211A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219551786T>C" "" "VUS" "" "0000328121" "0" "30" "2" "220419340" "220419340" "subst" "0.00185785" "01804" "CHPF_000015" "g.220419340G>A" "" "" "" "OBSL1(NM_001173431.1):c.*1379C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219554618G>A" "" "likely benign" "" "0000328122" "0" "30" "2" "220421443" "220421443" "subst" "0.00096357" "01804" "OBSL1_000003" "g.220421443G>A" "" "" "" "OBSL1(NM_001173408.1):c.*5163C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556721G>A" "" "likely benign" "" "0000328124" "0" "30" "2" "220435836" "220435836" "subst" "0.00110775" "01804" "OBSL1_000012" "g.220435836G>C" "" "" "" "OBSL1(NM_001173408.1):c.119C>G (p.(Pro40Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219571114G>C" "" "likely benign" "" "0000328126" "0" "50" "2" "220439913" "220439913" "subst" "0" "01804" "INHA_000004" "g.220439913C>T" "" "" "" "INHA(NM_002191.3):c.766C>T (p.(Pro256Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219575191C>T" "" "VUS" "" "0000328127" "0" "50" "2" "220440183" "220440183" "subst" "2.84845E-5" "01804" "INHA_000005" "g.220440183G>C" "" "" "" "INHA(NM_002191.3):c.1036G>C (p.(Gly346Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219575461G>C" "" "VUS" "" "0000336860" "0" "10" "2" "220421456" "220421456" "subst" "0.168925" "02327" "OBSL1_000013" "g.220421456C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556734C>A" "" "benign" "" "0000337519" "0" "10" "2" "220416942" "220416942" "subst" "0.446175" "02327" "CHPF_000005" "g.220416942G>C" "" "" "" "OBSL1(NM_015311.3):c.5309-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552220G>C" "" "benign" "" "0000337520" "0" "10" "2" "220432709" "220432709" "subst" "0.422781" "02327" "OBSL1_000010" "g.220432709A>T" "" "" "" "OBSL1(NM_015311.3):c.1283-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219567987A>T" "" "benign" "" "0000339676" "0" "10" "2" "220419236" "220419236" "subst" "0.996689" "02327" "CHPF_000012" "g.220419236T>C" "" "" "" "OBSL1(NM_015311.3):c.4836A>G (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219554514T>C" "" "benign" "" "0000339677" "0" "10" "2" "220420785" "220420785" "subst" "0.259116" "02327" "OBSL1_000019" "g.220420785G>A" "" "" "" "OBSL1(NM_015311.3):c.4566C>T (p.C1522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556063G>A" "" "benign" "" "0000339678" "0" "10" "2" "220420956" "220420956" "subst" "0.991655" "02327" "OBSL1_000023" "g.220420956A>G" "" "" "" "OBSL1(NM_015311.3):c.4395T>C (p.D1465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556234A>G" "" "benign" "" "0000339679" "0" "10" "2" "220422774" "220422774" "subst" "0.433985" "02327" "OBSL1_000004" "g.220422774A>G" "" "" "" "OBSL1(NM_015311.3):c.3561T>C (p.P1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219558052A>G" "" "benign" "" "0000339680" "0" "10" "2" "220427347" "220427347" "subst" "0.223872" "02327" "OBSL1_000006" "g.220427347G>T" "" "" "" "OBSL1(NM_015311.3):c.2730C>A (p.A910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219562625G>T" "" "benign" "" "0000339681" "0" "10" "2" "220427395" "220427395" "subst" "0.215887" "02327" "OBSL1_000007" "g.220427395G>A" "" "" "" "OBSL1(NM_015311.3):c.2682C>T (p.D894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219562673G>A" "" "benign" "" "0000339682" "0" "10" "2" "220431631" "220431631" "subst" "0.224581" "02327" "OBSL1_000015" "g.220431631G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219566909G>T" "" "benign" "" "0000339683" "0" "10" "2" "220432014" "220432014" "subst" "0.223544" "02327" "OBSL1_000016" "g.220432014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219567292G>A" "" "benign" "" "0000339684" "0" "10" "2" "220435034" "220435034" "subst" "0.865061" "02327" "OBSL1_000011" "g.220435034A>G" "" "" "" "OBSL1(NM_015311.3):c.921T>C (p.L307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219570312A>G" "" "benign" "" "0000339685" "0" "10" "2" "220435375" "220435375" "subst" "0.428145" "02327" "OBSL1_000018" "g.220435375G>A" "" "" "" "OBSL1(NM_015311.3):c.580C>T (p.L194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219570653G>A" "" "benign" "" "0000341085" "0" "10" "2" "220417266" "220417266" "subst" "0.430916" "02327" "CHPF_000006" "g.220417266C>T" "" "" "" "OBSL1(NM_015311.3):c.5300G>A (p.R1767Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219552544C>T" "" "benign" "" "0000342745" "0" "10" "2" "220432957" "220432957" "subst" "0.0395248" "02327" "OBSL1_000017" "g.220432957G>A" "" "" "" "OBSL1(NM_001173408.1):c.1102C>T (p.(Arg368Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219568235G>A" "" "benign" "" "0000343160" "0" "70" "2" "220437274" "220437274" "subst" "5.76117E-6" "02327" "INHA_000006" "g.220437274C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219572552C>T" "" "likely pathogenic" "" "0000343308" "0" "10" "2" "220430203" "220430203" "subst" "0.867234" "02327" "OBSL1_000008" "g.220430203C>T" "" "" "" "OBSL1(NM_015311.3):c.2168G>A (p.R723K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219565481C>T" "" "benign" "" "0000344582" "0" "10" "2" "220419339" "220419339" "subst" "0.987243" "02327" "CHPF_000014" "g.220419339T>C" "" "" "" "OBSL1(NM_015311.3):c.4733A>G (p.Q1578R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219554617T>C" "" "benign" "" "0000345120" "0" "10" "2" "220421417" "220421417" "subst" "0.738531" "02327" "OBSL1_000028" "g.220421417C>G" "" "" "" "OBSL1(NM_015311.3):c.4095G>C (p.E1365D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219556695C>G" "" "benign" "" "0000514817" "0" "30" "2" "220412348" "220412348" "subst" "0" "01804" "CHPF_000002" "g.220412348C>G" "" "" "" "TMEM198(NM_001005209.1):c.287C>G (p.(Ala96Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219547626C>G" "" "likely benign" "" "0000514818" "0" "30" "2" "220413919" "220413919" "subst" "0.000995498" "01804" "CHPF_000003" "g.220413919G>A" "" "" "" "TMEM198(NM_001005209.1):c.788G>A (p.(Arg263Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219549197G>A" "" "likely benign" "" "0000514819" "0" "30" "2" "220417356" "220417356" "subst" "0.00134096" "01804" "CHPF_000008" "g.220417356G>T" "" "" "" "OBSL1(NM_001173431.1):c.*3363C>A (p.(=)), OBSL1(NM_015311.3):c.5210C>A (p.T1737K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219552634G>T" "" "likely benign" "" "0000514820" "0" "30" "2" "220417364" "220417364" "subst" "0.00663804" "01804" "CHPF_000009" "g.220417364G>T" "" "" "" "OBSL1(NM_001173431.1):c.*3355C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219552642G>T" "" "likely benign" "" "0000514821" "0" "50" "2" "220417584" "220417584" "subst" "0" "01943" "CHPF_000010" "g.220417584A>C" "" "" "" "OBSL1(NM_015311.2):c.5146+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219552862A>C" "" "VUS" "" "0000514822" "0" "30" "2" "220419217" "220419217" "subst" "4.10435E-5" "01943" "CHPF_000011" "g.220419217C>T" "" "" "" "OBSL1(NM_015311.2):c.4855G>A (p.A1619T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219554495C>T" "" "likely benign" "" "0000514823" "0" "10" "2" "220419236" "220419236" "subst" "0.996689" "02325" "CHPF_000012" "g.220419236T>C" "" "" "" "OBSL1(NM_015311.3):c.4836A>G (p.T1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219554514T>C" "" "benign" "" "0000514824" "0" "30" "2" "220419327" "220419327" "subst" "8.57913E-5" "02326" "CHPF_000013" "g.220419327C>T" "" "" "" "OBSL1(NM_015311.2):c.4745G>A (p.G1582E), OBSL1(NM_015311.3):c.4745G>A (p.G1582E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219554605C>T" "" "likely benign" "" "0000514825" "0" "30" "2" "220420874" "220420874" "subst" "0.000441277" "01804" "OBSL1_000020" "g.220420874C>T" "" "" "" "OBSL1(NM_001173431.1):c.4477G>A (p.(Asp1493Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556152C>T" "" "likely benign" "" "0000514826" "0" "30" "2" "220420897" "220420897" "subst" "0.000115902" "01804" "OBSL1_000021" "g.220420897C>T" "" "" "" "OBSL1(NM_001173431.1):c.4454G>A (p.(Arg1485Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556175C>T" "" "likely benign" "" "0000514827" "0" "30" "2" "220420922" "220420922" "subst" "0.00130561" "01804" "OBSL1_000022" "g.220420922C>T" "" "" "" "OBSL1(NM_001173431.1):c.4429G>A (p.(Ala1477Thr)), OBSL1(NM_015311.2):c.4429G>A (p.A1477T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556200C>T" "" "likely benign" "" "0000514828" "0" "30" "2" "220420990" "220420990" "subst" "0.00851485" "01804" "OBSL1_000024" "g.220420990C>T" "" "" "" "OBSL1(NM_001173431.1):c.4361G>A (p.(Arg1454Gln)), OBSL1(NM_015311.3):c.4361G>A (p.R1454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556268C>T" "" "likely benign" "" "0000514829" "0" "50" "2" "220421227" "220421227" "subst" "0.000170694" "01804" "OBSL1_000025" "g.220421227C>T" "" "" "" "OBSL1(NM_001173431.1):c.4285G>A (p.(Val1429Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556505C>T" "" "VUS" "" "0000514830" "0" "30" "2" "220421320" "220421320" "subst" "0.00646301" "01804" "OBSL1_000026" "g.220421320C>T" "" "" "" "OBSL1(NM_001173431.1):c.4192G>A (p.(Val1398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556598C>T" "" "likely benign" "" "0000514832" "0" "50" "2" "220422107" "220422107" "subst" "0.000309193" "01804" "OBSL1_000029" "g.220422107C>T" "" "" "" "OBSL1(NM_001173408.1):c.*4499G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557385C>T" "" "VUS" "" "0000514833" "0" "50" "2" "220422126" "220422126" "subst" "6.16912E-5" "01804" "OBSL1_000030" "g.220422126G>T" "" "" "" "OBSL1(NM_001173408.1):c.*4480C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557404G>T" "" "VUS" "" "0000514834" "0" "70" "2" "220422138" "220422138" "dup" "0" "01804" "OBSL1_000031" "g.220422138dup" "" "" "" "OBSL1(NM_001173408.1):c.*4468_*4469insA (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557416dup" "" "likely pathogenic" "" "0000514835" "0" "30" "2" "220422583" "220422583" "subst" "0.0102363" "01804" "OBSL1_000032" "g.220422583G>A" "" "" "" "OBSL1(NM_001173408.1):c.*4023C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557861G>A" "" "likely benign" "" "0000514836" "0" "30" "2" "220422604" "220422604" "subst" "5.25528E-5" "01804" "OBSL1_000033" "g.220422604G>A" "" "" "" "OBSL1(NM_001173431.1):c.3731C>T (p.(Thr1244Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557882G>A" "" "likely benign" "" "0000514837" "0" "30" "2" "220422628" "220422628" "subst" "0" "01804" "OBSL1_000034" "g.220422628C>G" "" "" "" "OBSL1(NM_001173431.1):c.3707G>C (p.(Gly1236Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557906C>G" "" "likely benign" "" "0000514838" "0" "30" "2" "220422686" "220422686" "subst" "0.00508957" "01804" "OBSL1_000035" "g.220422686C>T" "" "" "" "OBSL1(NM_001173408.1):c.*3920G>A (p.(=)), OBSL1(NM_015311.3):c.3649G>A (p.E1217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557964C>T" "" "likely benign" "" "0000514839" "0" "10" "2" "220422686" "220422686" "subst" "0.00508957" "02326" "OBSL1_000035" "g.220422686C>T" "" "" "" "OBSL1(NM_001173408.1):c.*3920G>A (p.(=)), OBSL1(NM_015311.3):c.3649G>A (p.E1217K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557964C>T" "" "benign" "" "0000514841" "0" "30" "2" "220422740" "220422740" "subst" "0.000752651" "01804" "OBSL1_000037" "g.220422740G>A" "" "" "" "OBSL1(NM_001173408.1):c.*3866C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219558018G>A" "" "likely benign" "" "0000514842" "0" "30" "2" "220423149" "220423149" "subst" "0.000193858" "01804" "OBSL1_000038" "g.220423149G>A" "" "" "" "OBSL1(NM_001173431.1):c.3259C>T (p.(Arg1087Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219558427G>A" "" "likely benign" "" "0000514843" "0" "50" "2" "220424055" "220424055" "subst" "4.87626E-5" "01804" "OBSL1_000039" "g.220424055C>T" "" "" "" "OBSL1(NM_001173408.1):c.*2551G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219559333C>T" "" "VUS" "" "0000514844" "0" "50" "2" "220424170" "220424184" "del" "0" "02329" "OBSL1_000040" "g.220424170_220424184del" "" "" "" "OBSL1(NM_015311.3):c.2998_3012delATCGCCGTGACCTTG (p.I1000_L1004del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219559448_219559462del" "" "VUS" "" "0000514845" "0" "30" "2" "220427139" "220427139" "subst" "0" "01804" "OBSL1_000041" "g.220427139T>C" "" "" "" "OBSL1(NM_001173408.1):c.2938A>G (p.(Thr980Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219562417T>C" "" "likely benign" "" "0000514846" "0" "30" "2" "220427190" "220427190" "subst" "0.00028943" "01804" "OBSL1_000042" "g.220427190C>T" "" "" "" "OBSL1(NM_001173408.1):c.2887G>A (p.(Glu963Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219562468C>T" "" "likely benign" "" "0000514847" "0" "30" "2" "220428287" "220428287" "subst" "0" "01804" "OBSL1_000043" "g.220428287A>T" "" "" "" "OBSL1(NM_001173408.1):c.2470T>A (p.(Cys824Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219563565A>T" "" "likely benign" "" "0000514848" "0" "30" "2" "220430133" "220430133" "subst" "0.00320435" "01943" "OBSL1_000044" "g.220430133C>T" "" "" "" "OBSL1(NM_015311.2):c.2238G>A (p.P746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219565411C>T" "" "likely benign" "" "0000514849" "0" "50" "2" "220431582" "220431582" "subst" "7.8632E-5" "01943" "OBSL1_000045" "g.220431582C>T" "" "" "" "OBSL1(NM_001173408.1):c.2104G>A (p.(Val702Met)), OBSL1(NM_015311.2):c.2104G>A (p.V702M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219566860C>T" "" "VUS" "" "0000514850" "0" "30" "2" "220431687" "220431687" "subst" "0.000939108" "01804" "OBSL1_000046" "g.220431687C>T" "" "" "" "OBSL1(NM_001173408.1):c.1999G>A (p.(Ala667Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219566965C>T" "" "likely benign" "" "0000514851" "0" "30" "2" "220431736" "220431736" "subst" "0" "01943" "OBSL1_000047" "g.220431736A>G" "" "" "" "OBSL1(NM_015311.2):c.1950T>C (p.N650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219567014A>G" "" "likely benign" "" "0000514852" "0" "30" "2" "220431774" "220431774" "subst" "0.000338477" "01804" "OBSL1_000048" "g.220431774C>T" "" "" "" "OBSL1(NM_001173408.1):c.1912G>A (p.(Asp638Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219567052C>T" "" "likely benign" "" "0000514853" "0" "50" "2" "220432090" "220432090" "subst" "5.74548E-5" "01943" "INHA_000007" "g.220432090C>T" "" "" "" "OBSL1(NM_015311.2):c.1742G>A (p.C581Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219567368C>T" "" "VUS" "" "0000514854" "0" "30" "2" "220432095" "220432095" "subst" "0.000197061" "01943" "INHA_000008" "g.220432095G>T" "" "" "" "OBSL1(NM_015311.2):c.1737C>A (p.G579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219567373G>T" "" "likely benign" "" "0000514856" "0" "30" "2" "220432957" "220432957" "subst" "0.0395248" "01804" "OBSL1_000017" "g.220432957G>A" "" "" "" "OBSL1(NM_001173408.1):c.1102C>T (p.(Arg368Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219568235G>A" "" "likely benign" "" "0000514857" "0" "30" "2" "220435000" "220435000" "subst" "4.24805E-6" "01943" "INHA_000010" "g.220435000A>C" "" "" "" "OBSL1(NM_015311.2):c.955T>G (p.C319G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570278A>C" "" "likely benign" "" "0000514858" "0" "50" "2" "220435203" "220435203" "subst" "4.998E-5" "02325" "INHA_000011" "g.220435203G>A" "" "" "" "OBSL1(NM_015311.3):c.752C>T (p.A251V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570481G>A" "" "VUS" "" "0000514859" "0" "30" "2" "220435333" "220435333" "subst" "0" "01804" "INHA_000012" "g.220435333C>T" "" "" "" "OBSL1(NM_001173408.1):c.622G>A (p.(Val208Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570611C>T" "" "likely benign" "" "0000514860" "0" "10" "2" "220435375" "220435375" "subst" "0.428145" "02325" "OBSL1_000018" "g.220435375G>A" "" "" "" "OBSL1(NM_015311.3):c.580C>T (p.L194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570653G>A" "" "benign" "" "0000514861" "0" "50" "2" "220435437" "220435437" "del" "0" "01804" "INHA_000013" "g.220435437del" "" "" "" "OBSL1(NM_001173408.1):c.518delA (p.(Asp173AlafsTer85))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570715del" "" "VUS" "" "0000514862" "0" "30" "2" "220439634" "220439634" "subst" "0.00206311" "01804" "INHA_000014" "g.220439634G>A" "" "" "" "INHA(NM_002191.3):c.487G>A (p.(Val163Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219574912G>A" "" "likely benign" "" "0000607537" "0" "50" "2" "220420868" "220420868" "subst" "5.30552E-5" "01804" "OBSL1_000049" "g.220420868G>A" "" "" "" "OBSL1(NM_001173431.1):c.4483C>T (p.(Arg1495Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219556146G>A" "" "VUS" "" "0000607538" "0" "30" "2" "220422281" "220422281" "subst" "0.00057441" "01804" "OBSL1_000050" "g.220422281C>T" "" "" "" "OBSL1(NM_001173431.1):c.3850G>A (p.(Gly1284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557559C>T" "" "likely benign" "" "0000607539" "0" "50" "2" "220427130" "220427130" "subst" "8.22917E-5" "01804" "OBSL1_000053" "g.220427130C>T" "" "" "" "OBSL1(NM_001173408.1):c.2947G>A (p.(Val983Ile)), OBSL1(NM_015311.2):c.2947G>A (p.V983I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219562408C>T" "" "VUS" "" "0000607540" "0" "30" "2" "220429979" "220429979" "subst" "0.000252352" "01943" "OBSL1_000055" "g.220429979C>T" "" "" "" "OBSL1(NM_015311.2):c.2392G>A (p.G798S, p.(Gly798Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219565257C>T" "" "likely benign" "" "0000607541" "0" "30" "2" "220431630" "220431630" "subst" "0.000114259" "01943" "OBSL1_000056" "g.220431630C>T" "" "" "" "OBSL1(NM_015311.2):c.2056G>A (p.V686I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219566908C>T" "" "likely benign" "" "0000607542" "0" "30" "2" "220434971" "220434971" "subst" "0" "01943" "INHA_000016" "g.220434971C>A" "" "" "" "OBSL1(NM_015311.2):c.984G>T (p.T328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570249C>A" "" "likely benign" "" "0000607543" "0" "50" "2" "220435063" "220435063" "subst" "0.000263653" "01804" "INHA_000017" "g.220435063G>A" "" "" "" "OBSL1(NM_001173408.1):c.892C>T (p.(Arg298Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219570341G>A" "" "VUS" "" "0000620972" "0" "90" "2" "220422653" "220422653" "subst" "0" "01943" "OBSL1_000051" "g.220422653G>A" "" "" "" "OBSL1(NM_015311.2):c.3682C>T (p.R1228*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219557931G>A" "" "pathogenic" "" "0000620973" "0" "50" "2" "220422739" "220422739" "subst" "1.65652E-5" "01943" "OBSL1_000052" "g.220422739C>T" "" "" "" "OBSL1(NM_015311.2):c.3596G>A (p.R1199Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219558017C>T" "" "VUS" "" "0000620974" "0" "50" "2" "220427214" "220427214" "subst" "0" "01943" "OBSL1_000054" "g.220427214G>T" "" "" "" "OBSL1(NM_015311.2):c.2863C>A (p.L955M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219562492G>T" "" "VUS" "" "0000620975" "0" "50" "2" "220432094" "220432094" "subst" "5.74637E-5" "01943" "INHA_000015" "g.220432094C>T" "" "" "" "OBSL1(NM_015311.2):c.1738G>A (p.D580N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219567372C>T" "" "VUS" "" "0000650466" "1" "50" "2" "220417364" "220417364" "subst" "0.00663804" "03575" "CHPF_000009" "g.220417364G>T" "3/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs181520135}" "Germline" "" "rs181520135" "0" "" "" "g.219552642G>T" "" "VUS" "" "0000650467" "1" "50" "2" "220419340" "220419340" "subst" "0.00185785" "03575" "CHPF_000015" "g.220419340G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116131367}" "Germline" "" "rs116131367" "0" "" "" "g.219554618G>A" "" "VUS" "" "0000650468" "1" "10" "2" "220420990" "220420990" "subst" "0.00851485" "03575" "OBSL1_000024" "g.220420990C>T" "77/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "77 heterozygous; {DB:CLININrs183329050}" "Germline" "" "rs183329050" "0" "" "" "g.219556268C>T" "" "benign" "" "0000650469" "1" "50" "2" "220422583" "220422583" "subst" "0.0102363" "03575" "OBSL1_000032" "g.220422583G>A" "5/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs145485683}" "Germline" "" "rs145485683" "0" "" "" "g.219557861G>A" "" "VUS" "" "0000650470" "1" "50" "2" "220422686" "220422686" "subst" "0.00508957" "03575" "OBSL1_000035" "g.220422686C>T" "12/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs72957510}" "Germline" "" "rs72957510" "0" "" "" "g.219557964C>T" "" "VUS" "" "0000650471" "1" "30" "2" "220432957" "220432957" "subst" "0.0395248" "03575" "OBSL1_000017" "g.220432957G>A" "61/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "61 heterozygous, no homozygous; {DB:CLININrs35009641}" "Germline" "" "rs35009641" "0" "" "" "g.219568235G>A" "" "likely benign" "" "0000653326" "1" "90" "2" "220432786" "220432786" "dup" "0" "03575" "OBSL1_000057" "g.220432786dup" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "c.1274dup" "2 heterozygous, no homozygous" "Germline" "" "rs762334954" "0" "" "" "g.219568064dup" "" "pathogenic" "" "0000669607" "3" "10" "2" "220420990" "220420990" "subst" "0.00851485" "03575" "OBSL1_000024" "g.220420990C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs183329050}" "Germline" "" "rs183329050" "0" "" "" "g.219556268C>T" "" "benign" "" "0000676531" "0" "50" "2" "220431582" "220431582" "subst" "7.8632E-5" "01804" "OBSL1_000045" "g.220431582C>T" "" "" "" "OBSL1(NM_001173408.1):c.2104G>A (p.(Val702Met)), OBSL1(NM_015311.2):c.2104G>A (p.V702M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676532" "0" "50" "2" "220434963" "220434963" "subst" "1.43071E-5" "01804" "INHA_000018" "g.220434963G>T" "" "" "" "OBSL1(NM_001173408.1):c.992C>A (p.(Ala331Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676533" "0" "30" "2" "220437303" "220437303" "subst" "0.000623979" "01943" "INHA_000019" "g.220437303C>T" "" "" "" "INHA(NM_002191.4):c.207C>T (p.H69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688664" "0" "30" "2" "220421292" "220421292" "subst" "1.62501E-5" "01804" "OBSL1_000058" "g.220421292A>G" "" "" "" "OBSL1(NM_001173431.1):c.4220T>C (p.(Met1407Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688665" "0" "30" "2" "220423125" "220423125" "subst" "0.000904713" "01804" "OBSL1_000059" "g.220423125C>T" "" "" "" "OBSL1(NM_001173408.1):c.*3481G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688666" "0" "30" "2" "220428096" "220428096" "subst" "0.000367478" "01943" "OBSL1_000060" "g.220428096G>A" "" "" "" "OBSL1(NM_015311.2):c.2661C>T (p.Y887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688667" "0" "30" "2" "220435753" "220435753" "subst" "0.00010903" "01804" "INHA_000020" "g.220435753C>T" "" "" "" "OBSL1(NM_001173408.1):c.202G>A (p.(Gly68Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718525" "0" "30" "2" "220416420" "220416420" "subst" "5.4626E-5" "01804" "CHPF_000016" "g.220416420G>T" "" "" "" "OBSL1(NM_001173431.1):c.*4299C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718526" "0" "50" "2" "220417321" "220417321" "subst" "4.78571E-5" "01943" "CHPF_000017" "g.220417321C>T" "" "" "" "OBSL1(NM_015311.2):c.5245G>A (p.G1749R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718527" "0" "30" "2" "220418415" "220418415" "subst" "0.000102799" "01943" "CHPF_000018" "g.220418415G>A" "" "" "" "OBSL1(NM_015311.2):c.4877-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718528" "0" "30" "2" "220419327" "220419327" "subst" "8.57913E-5" "01943" "CHPF_000013" "g.220419327C>T" "" "" "" "OBSL1(NM_015311.2):c.4745G>A (p.G1582E), OBSL1(NM_015311.3):c.4745G>A (p.G1582E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718529" "0" "30" "2" "220419444" "220419444" "subst" "0" "01804" "CHPF_000019" "g.220419444A>G" "" "" "" "OBSL1(NM_015311.2):c.4628T>C (p.(Leu1543Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718530" "0" "30" "2" "220420922" "220420922" "subst" "0.00130561" "01943" "OBSL1_000022" "g.220420922C>T" "" "" "" "OBSL1(NM_001173431.1):c.4429G>A (p.(Ala1477Thr)), OBSL1(NM_015311.2):c.4429G>A (p.A1477T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718531" "0" "50" "2" "220421365" "220421365" "subst" "6.90613E-5" "01804" "OBSL1_000061" "g.220421365C>T" "" "" "" "OBSL1(NM_001173431.1):c.4147G>A (p.(Val1383Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718532" "0" "90" "2" "220422198" "220422202" "del" "0" "01943" "OBSL1_000062" "g.220422198_220422202del" "" "" "" "OBSL1(NM_015311.2):c.3931_3935delAGCCA (p.S1311Gfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718533" "0" "50" "2" "220423056" "220423056" "subst" "1.23573E-5" "01804" "OBSL1_000063" "g.220423056C>T" "" "" "" "OBSL1(NM_001173431.1):c.3352G>A (p.(Gly1118Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718534" "0" "30" "2" "220423156" "220423156" "subst" "0.00013852" "01943" "OBSL1_000064" "g.220423156C>T" "" "" "" "OBSL1(NM_015311.2):c.3252G>A (p.P1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718535" "0" "30" "2" "220427130" "220427130" "subst" "8.22917E-5" "01943" "OBSL1_000053" "g.220427130C>T" "" "" "" "OBSL1(NM_001173408.1):c.2947G>A (p.(Val983Ile)), OBSL1(NM_015311.2):c.2947G>A (p.V983I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718536" "0" "30" "2" "220432098" "220432098" "subst" "0.00345366" "01943" "INHA_000021" "g.220432098C>T" "" "" "" "OBSL1(NM_015311.2):c.1734G>A (p.P578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718537" "0" "50" "2" "220432656" "220432656" "subst" "0.000297033" "01943" "INHA_000022" "g.220432656C>T" "" "" "" "OBSL1(NM_015311.2):c.1318G>A (p.V440I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718538" "0" "50" "2" "220432804" "220432804" "subst" "0.00137924" "01943" "OBSL1_000002" "g.220432804G>A" "" "" "" "OBSL1(NM_001173408.1):c.1255C>T (p.(Arg419Cys)), OBSL1(NM_015311.2):c.1255C>T (p.R419C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718539" "0" "50" "2" "220432831" "220432831" "subst" "0.00027336" "01943" "INHA_000023" "g.220432831A>G" "" "" "" "OBSL1(NM_015311.2):c.1228T>C (p.Y410H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718540" "0" "30" "2" "220435362" "220435362" "subst" "0.00114888" "01804" "INHA_000024" "g.220435362G>T" "" "" "" "OBSL1(NM_001173408.1):c.593C>A (p.(Ala198Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718541" "0" "30" "2" "220435386" "220435386" "subst" "0.00349814" "01804" "INHA_000025" "g.220435386G>C" "" "" "" "OBSL1(NM_001173408.1):c.569C>G (p.(Ala190Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730034" "3" "90" "2" "220432671" "220432671" "del" "0" "00000" "OBSL1_000065" "g.220432671del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015311.2:c.1306delC:p.(Arg436Glyfs*14)" "" "Germline" "" "" "0" "" "" "g.219567949del" "" "pathogenic (recessive)" "" "0000730035" "3" "90" "2" "220432671" "220432671" "del" "0" "00000" "OBSL1_000065" "g.220432671del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015311.2:c.1306delC:p.(Arg436Glyfs*14)" "" "Germline" "" "" "0" "" "" "g.219567949del" "" "pathogenic (recessive)" "" "0000730036" "3" "90" "2" "220432671" "220432671" "del" "0" "00000" "OBSL1_000065" "g.220432671del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015311.2:c.1306delC:p.(Arg436Glyfs*14)" "" "Germline" "" "" "0" "" "" "g.219567949del" "" "pathogenic (recessive)" "" "0000730037" "3" "90" "2" "220435004" "220435004" "subst" "0" "00000" "OBSL1_000066" "g.220435004G>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015311.2:c.951C>A:p.(Tyr317*)" "" "Germline" "" "" "0" "" "" "g.219570282G>T" "" "likely pathogenic (recessive)" "" "0000730038" "3" "90" "2" "220435326" "220435700" "del" "0" "00000" "OBSL1_000067" "g.220435326_220435700del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_015311.2:c.268_642del:p.(Ala90_Ala214del)" "" "Germline" "" "" "0" "" "" "g.219570604_219570978del" "" "likely pathogenic (recessive)" "" "0000787992" "3" "90" "2" "220435250" "220435250" "del" "0" "03894" "OBSL1_000068" "g.220435250del" "" "" "" "706delG" "" "Germline" "" "" "0" "" "" "g.219570528del" "" "pathogenic (recessive)" "" "0000800414" "0" "50" "2" "220428149" "220428149" "subst" "0" "01804" "OBSL1_000069" "g.220428149G>C" "" "" "" "OBSL1(NM_001173408.1):c.2608C>G (p.(Gln870Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800415" "0" "30" "2" "220432994" "220432994" "subst" "6.37582E-5" "01943" "INHA_000026" "g.220432994G>A" "" "" "" "OBSL1(NM_015311.2):c.1065C>T (p.H355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800416" "0" "30" "2" "220435204" "220435204" "subst" "0.000845404" "01804" "INHA_000027" "g.220435204C>A" "" "" "" "OBSL1(NM_001173408.1):c.751G>T (p.(Ala251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800417" "0" "50" "2" "220435497" "220435497" "subst" "0" "01943" "INHA_000028" "g.220435497C>T" "" "" "" "OBSL1(NM_015311.2):c.458G>A (p.G153D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849750" "0" "30" "2" "220423104" "220423104" "subst" "0.000307348" "01804" "OBSL1_000071" "g.220423104G>A" "" "" "" "OBSL1(NM_001173431.1):c.3304C>T (p.(Arg1102Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858371" "0" "50" "2" "220416493" "220416493" "subst" "0.00015886" "01804" "CHPF_000020" "g.220416493G>A" "" "" "" "OBSL1(NM_001173431.1):c.*4226C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858372" "0" "50" "2" "220422209" "220422209" "subst" "0.000194508" "01804" "OBSL1_000070" "g.220422209G>A" "" "" "" "OBSL1(NM_001173408.1):c.*4397C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858373" "0" "90" "2" "220432786" "220432786" "dup" "0" "01804" "INHA_000029" "g.220432786dup" "" "" "" "OBSL1(NM_001173408.1):c.1273dup (p.(Thr425Asnfs*40)), OBSL1(NM_015311.3):c.1273dupA (p.T425Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858374" "0" "50" "2" "220434993" "220434993" "subst" "1.28968E-5" "01804" "INHA_000030" "g.220434993G>A" "" "" "" "OBSL1(NM_001173408.1):c.962C>T (p.(Ala321Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858375" "0" "30" "2" "220439979" "220439979" "subst" "0.000324844" "01943" "INHA_000031" "g.220439979C>T" "" "" "" "INHA(NM_002191.4):c.832C>T (p.R278W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884931" "0" "30" "2" "220418334" "220418334" "subst" "0.00162161" "01804" "CHPF_000021" "g.220418334C>A" "" "" "" "OBSL1(NM_015311.2):c.4951G>T (p.(Glu1651*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884932" "0" "50" "2" "220422071" "220422071" "subst" "0" "01804" "OBSL1_000072" "g.220422071C>T" "" "" "" "OBSL1(NM_001173431.1):c.4060G>A (p.(Val1354Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884933" "0" "50" "2" "220424096" "220424096" "subst" "0" "01804" "OBSL1_000073" "g.220424096C>T" "" "" "" "OBSL1(NM_001173431.1):c.3077G>A (p.(Gly1026Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884934" "0" "30" "2" "220426667" "220426667" "subst" "4.161E-5" "01804" "OBSL1_000074" "g.220426667G>A" "" "" "" "OBSL1(NM_001173408.1):c.3017C>T (p.(Pro1006Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884935" "0" "30" "2" "220432012" "220432012" "subst" "8.36631E-5" "01804" "INHA_000032" "g.220432012T>C" "" "" "" "OBSL1(NM_001173408.1):c.1820A>G (p.(His607Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884936" "0" "50" "2" "220432804" "220432804" "subst" "0.00137924" "01804" "OBSL1_000002" "g.220432804G>A" "" "" "" "OBSL1(NM_001173408.1):c.1255C>T (p.(Arg419Cys)), OBSL1(NM_015311.2):c.1255C>T (p.R419C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911600" "0" "30" "2" "220421395" "220421395" "subst" "0.00473814" "01804" "OBSL1_000075" "g.220421395C>T" "" "" "" "OBSL1(NM_001173431.1):c.4117G>A (p.(Glu1373Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911601" "0" "90" "2" "220432786" "220432786" "dup" "0" "02329" "OBSL1_000057" "g.220432786dup" "" "" "" "OBSL1(NM_001173408.1):c.1273dup (p.(Thr425Asnfs*40)), OBSL1(NM_015311.3):c.1273dupA (p.T425Nfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928537" "0" "50" "2" "220434954" "220434954" "subst" "0" "02327" "INHA_000033" "g.220434954A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961925" "0" "30" "2" "220422181" "220422181" "subst" "0.00161751" "01804" "OBSL1_000076" "g.220422181A>T" "" "" "" "OBSL1(NM_001173408.1):c.*4425T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961926" "0" "90" "2" "220435884" "220435884" "dup" "0" "02327" "INHA_000034" "g.220435884dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975015" "0" "70" "2" "220416843" "220416843" "subst" "1.26869E-5" "01804" "CHPF_000022" "g.220416843C>A" "" "" "" "OBSL1(NM_015311.3):c.5404G>T (p.(Glu1802Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975016" "0" "50" "2" "220422176" "220422176" "subst" "0" "01804" "OBSL1_000077" "g.220422176G>A" "" "" "" "OBSL1(NM_015311.3):c.3955C>T (p.(Gln1319*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975017" "0" "50" "2" "220423091" "220423091" "subst" "0" "01804" "OBSL1_000078" "g.220423091G>A" "" "" "" "OBSL1(NM_015311.3):c.3317C>T (p.(Ala1106Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975018" "0" "50" "2" "220427274" "220427274" "subst" "0" "01804" "OBSL1_000079" "g.220427274C>T" "" "" "" "OBSL1(NM_015311.3):c.2803G>A (p.(Gly935Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975019" "0" "70" "2" "220428260" "220428260" "subst" "8.12354E-6" "01804" "OBSL1_000080" "g.220428260G>A" "" "" "" "OBSL1(NM_015311.2):c.2497C>T (p.(Arg833*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975020" "0" "50" "2" "220432488" "220432488" "subst" "1.22199E-5" "01804" "INHA_000035" "g.220432488T>C" "" "" "" "OBSL1(NM_015311.3):c.1486A>G (p.(Thr496Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992549" "0" "30" "2" "220416355" "220416355" "subst" "0" "01804" "CHPF_000023" "g.220416355C>T" "" "" "" "OBSL1(NM_015311.2):c.5579G>A (p.(Gly1860Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992550" "0" "50" "2" "220422126" "220422126" "subst" "6.16912E-5" "02327" "OBSL1_000030" "g.220422126G>T" "" "" "" "OBSL1(NM_001173408.1):c.*4480C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992551" "0" "50" "2" "220422933" "220422933" "subst" "2.49045E-5" "01804" "OBSL1_000081" "g.220422933C>A" "" "" "" "OBSL1(NM_015311.2):c.3475G>T (p.(Ala1159Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992552" "0" "30" "2" "220429979" "220429979" "subst" "0.000252352" "01804" "OBSL1_000055" "g.220429979C>T" "" "" "" "OBSL1(NM_015311.2):c.2392G>A (p.G798S, p.(Gly798Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033023" "0" "50" "2" "220419413" "220419413" "del" "0" "01804" "CHPF_000024" "g.220419413del" "" "" "" "OBSL1(NM_015311.3):c.4664del (p.(Gly1555Alafs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033024" "0" "50" "2" "220420898" "220420898" "subst" "2.07041E-5" "01804" "OBSL1_000082" "g.220420898G>A" "" "" "" "OBSL1(NM_015311.3):c.4453C>T (p.(Arg1485*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033025" "0" "50" "2" "220422963" "220422963" "subst" "7.55458E-5" "01804" "OBSL1_000083" "g.220422963C>T" "" "" "" "OBSL1(NM_015311.3):c.3445G>A (p.(Gly1149Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033026" "0" "50" "2" "220423116" "220423116" "subst" "5.29843E-5" "01804" "OBSL1_000084" "g.220423116G>A" "" "" "" "OBSL1(NM_015311.3):c.3292C>T (p.(Arg1098Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033027" "0" "50" "2" "220423172" "220423172" "subst" "1.57682E-5" "01804" "OBSL1_000085" "g.220423172T>A" "" "" "" "OBSL1(NM_015311.3):c.3236A>T (p.(Glu1079Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033028" "0" "50" "2" "220428069" "220428069" "subst" "3.5178E-5" "01804" "OBSL1_000086" "g.220428069C>T" "" "" "" "OBSL1(NM_015311.3):c.2680+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033029" "0" "50" "2" "220432584" "220432584" "subst" "0" "01804" "INHA_000036" "g.220432584C>A" "" "" "" "OBSL1(NM_015311.3):c.1390G>T (p.(Asp464Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033030" "0" "50" "2" "220432891" "220432891" "subst" "2.44095E-5" "01804" "INHA_000037" "g.220432891C>T" "" "" "" "OBSL1(NM_015311.3):c.1168G>A (p.(Glu390Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033031" "0" "50" "2" "220432950" "220432950" "subst" "4.08757E-6" "01804" "INHA_000038" "g.220432950G>A" "" "" "" "OBSL1(NM_015311.3):c.1109C>T (p.(Pro370Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033032" "0" "50" "2" "220435101" "220435101" "subst" "0" "01804" "INHA_000039" "g.220435101G>T" "" "" "" "OBSL1(NM_015311.3):c.854C>A (p.(Pro285Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033033" "0" "30" "2" "220435104" "220435104" "subst" "0.00074525" "01804" "INHA_000040" "g.220435104C>T" "" "" "" "OBSL1(NM_015311.3):c.851G>A (p.(Arg284His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033034" "0" "50" "2" "220435270" "220435270" "del" "0" "01804" "INHA_000041" "g.220435270del" "" "" "" "OBSL1(NM_015311.3):c.690del (p.(Glu231Argfs*27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045303" "3" "90" "2" "220432671" "220432671" "del" "0" "00006" "OBSL1_000065" "g.220432671del" "" "{PMID:Alazami 2016:27023906}" "" "1306delC" "" "Germline" "" "" "0" "" "" "g.219567949del" "" "pathogenic (recessive)" "" "0001051089" "0" "50" "2" "220422190" "220422190" "subst" "4.07083E-5" "01804" "OBSL1_000087" "g.220422190C>T" "" "" "" "OBSL1(NM_015311.3):c.3941G>A (p.(Arg1314Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051090" "0" "70" "2" "220422611" "220422611" "del" "0" "01804" "OBSL1_000088" "g.220422611del" "" "" "" "OBSL1(NM_015311.3):c.3724del (p.(Leu1242Serfs*29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051091" "0" "50" "2" "220423067" "220423067" "subst" "0.000127738" "01804" "OBSL1_000089" "g.220423067C>T" "" "" "" "OBSL1(NM_015311.3):c.3341G>A (p.(Trp1114*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051092" "0" "50" "2" "220427178" "220427178" "subst" "9.39596E-5" "01804" "OBSL1_000090" "g.220427178C>T" "" "" "" "OBSL1(NM_015311.3):c.2899G>A (p.(Glu967Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051093" "0" "50" "2" "220432466" "220432466" "subst" "6.94484E-5" "01804" "INHA_000042" "g.220432466C>T" "" "" "" "OBSL1(NM_015311.3):c.1508G>A (p.(Arg503His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051094" "0" "50" "2" "220432843" "220432843" "subst" "2.44598E-5" "01804" "INHA_000043" "g.220432843C>T" "" "" "" "OBSL1(NM_015311.3):c.1216G>A (p.(Asp406Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059644" "3" "70" "2" "220432435" "220432435" "subst" "4.10694E-6" "00006" "OBSL1_000091" "g.220432435C>G" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.219567713C>G" "SCV002507151.1" "likely pathogenic (recessive)" "" "0001060894" "0" "70" "2" "220418334" "220418334" "subst" "0.00162161" "00006" "CHPF_000021" "g.220418334C>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1; 1/142 in controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.219553612C>A" "" "likely pathogenic" "ACMG" "0001060895" "0" "70" "2" "220418334" "220418334" "subst" "0.00162161" "00006" "CHPF_000021" "g.220418334C>A" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1; 1/142 in controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.219553612C>A" "" "likely pathogenic" "ACMG" ## 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 OBSL1 ## Count = 188 "{{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}}" "0000079433" "00025753" "90" "2077" "0" "2077" "0" "c.2077G>C" "r.(?)" "p.(Ala693Pro)" "" "0000079666" "00025753" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Cys)" "" "0000248507" "00025753" "10" "4395" "0" "4395" "0" "c.4395T>C" "r.(?)" "p.(Asp1465=)" "" "0000248508" "00025753" "10" "3561" "0" "3561" "0" "c.3561T>C" "r.(?)" "p.(Pro1187=)" "" "0000248509" "00025753" "10" "921" "0" "921" "0" "c.921T>C" "r.(?)" "p.(Leu307=)" "" "0000248997" "00025753" "10" "1283" "-18" "1283" "-18" "c.1283-18T>A" "r.(=)" "p.(=)" "" "0000296658" "00025753" "10" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Lys)" "" "0000296659" "00025753" "10" "2682" "0" "2682" "0" "c.2682C>T" "r.(?)" "p.(Asp894=)" "" "0000296660" "00025753" "10" "2730" "0" "2730" "0" "c.2730C>A" "r.(?)" "p.(Ala910=)" "" "0000296661" "00025753" "10" "4095" "0" "4095" "0" "c.4095G>C" "r.(?)" "p.(Glu1365Asp)" "" "0000296662" "00025753" "10" "4566" "0" "4566" "0" "c.4566C>T" "r.(?)" "p.(Cys1522=)" "" "0000296663" "00025753" "10" "4733" "0" "4733" "0" "c.4733A>G" "r.(?)" "p.(Gln1578Arg)" "" "0000296664" "00025753" "10" "5300" "0" "5300" "0" "c.5300G>A" "r.(?)" "p.(Arg1767Gln)" "" "0000296665" "00025753" "10" "5309" "-4" "5309" "-4" "c.5309-4C>G" "r.spl?" "p.?" "" "0000300505" "00025753" "30" "4361" "0" "4361" "0" "c.4361G>A" "r.(?)" "p.(Arg1454Gln)" "" "0000300506" "00025753" "30" "5210" "0" "5210" "0" "c.5210C>A" "r.(?)" "p.(Thr1737Lys)" "" "0000304723" "00025753" "50" "1976" "0" "1976" "0" "c.1976C>T" "r.(?)" "p.(Pro659Leu)" "" "0000304724" "00025753" "30" "5257" "0" "5257" "0" "c.5257C>T" "r.(?)" "p.(Leu1753Phe)" "" "0000328120" "00025753" "50" "5426" "0" "5426" "0" "c.5426A>G" "r.(?)" "p.(Gln1809Arg)" "" "0000328121" "00025753" "30" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Gln1578Ter)" "" "0000328122" "00025753" "30" "4069" "0" "4069" "0" "c.4069C>T" "r.(?)" "p.(Pro1357Ser)" "" "0000328124" "00025753" "30" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Pro40Arg)" "" "0000328126" "00025753" "50" "-3959" "0" "-3959" "0" "c.-3959G>A" "r.(?)" "p.(=)" "" "0000328127" "00025753" "50" "-4229" "0" "-4229" "0" "c.-4229C>G" "r.(?)" "p.(=)" "" "0000336860" "00025753" "10" "4067" "-11" "4067" "-11" "c.4067-11G>T" "r.(=)" "p.(=)" "" "0000337519" "00025753" "10" "5309" "-4" "5309" "-4" "c.5309-4C>G" "r.spl?" "p.?" "" "0000337520" "00025753" "10" "1283" "-18" "1283" "-18" "c.1283-18T>A" "r.(=)" "p.(=)" "" "0000339676" "00025753" "10" "4836" "0" "4836" "0" "c.4836A>G" "r.(?)" "p.(Thr1612=)" "" "0000339677" "00025753" "10" "4566" "0" "4566" "0" "c.4566C>T" "r.(?)" "p.(Cys1522=)" "" "0000339678" "00025753" "10" "4395" "0" "4395" "0" "c.4395T>C" "r.(?)" "p.(Asp1465=)" "" "0000339679" "00025753" "10" "3561" "0" "3561" "0" "c.3561T>C" "r.(?)" "p.(Pro1187=)" "" "0000339680" "00025753" "10" "2730" "0" "2730" "0" "c.2730C>A" "r.(?)" "p.(Ala910=)" "" "0000339681" "00025753" "10" "2682" "0" "2682" "0" "c.2682C>T" "r.(?)" "p.(Asp894=)" "" "0000339682" "00025753" "10" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Ala685=)" "" "0000339683" "00025753" "10" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Phe606=)" "" "0000339684" "00025753" "10" "921" "0" "921" "0" "c.921T>C" "r.(?)" "p.(Leu307=)" "" "0000339685" "00025753" "10" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Leu194=)" "" "0000341085" "00025753" "10" "5300" "0" "5300" "0" "c.5300G>A" "r.(?)" "p.(Arg1767Gln)" "" "0000342745" "00025753" "10" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000343160" "00025753" "70" "-1320" "0" "-1320" "0" "c.-1320G>A" "r.(?)" "p.(=)" "" "0000343308" "00025753" "10" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Lys)" "" "0000344582" "00025753" "10" "4733" "0" "4733" "0" "c.4733A>G" "r.(?)" "p.(Gln1578Arg)" "" "0000345120" "00025753" "10" "4095" "0" "4095" "0" "c.4095G>C" "r.(?)" "p.(Glu1365Asp)" "" "0000514817" "00025753" "30" "8900" "0" "8900" "0" "c.*3209G>C" "r.(=)" "p.(=)" "" "0000514818" "00025753" "30" "7329" "0" "7329" "0" "c.*1638C>T" "r.(=)" "p.(=)" "" "0000514819" "00025753" "30" "5210" "0" "5210" "0" "c.5210C>A" "r.(?)" "p.(Thr1737Lys)" "" "0000514820" "00025753" "30" "5202" "0" "5202" "0" "c.5202C>A" "r.(?)" "p.(Asp1734Glu)" "" "0000514821" "00025753" "50" "5146" "6" "5146" "6" "c.5146+6T>G" "r.(=)" "p.(=)" "" "0000514822" "00025753" "30" "4855" "0" "4855" "0" "c.4855G>A" "r.(?)" "p.(Ala1619Thr)" "" "0000514823" "00025753" "10" "4836" "0" "4836" "0" "c.4836A>G" "r.(?)" "p.(Thr1612=)" "" "0000514824" "00025753" "30" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Gly1582Glu)" "" "0000514825" "00025753" "30" "4477" "0" "4477" "0" "c.4477G>A" "r.(?)" "p.(Asp1493Asn)" "" "0000514826" "00025753" "30" "4454" "0" "4454" "0" "c.4454G>A" "r.(?)" "p.(Arg1485Gln)" "" "0000514827" "00025753" "30" "4429" "0" "4429" "0" "c.4429G>A" "r.(?)" "p.(Ala1477Thr)" "" "0000514828" "00025753" "30" "4361" "0" "4361" "0" "c.4361G>A" "r.(?)" "p.(Arg1454Gln)" "" "0000514829" "00025753" "50" "4285" "0" "4285" "0" "c.4285G>A" "r.(?)" "p.(Val1429Met)" "" "0000514830" "00025753" "30" "4192" "0" "4192" "0" "c.4192G>A" "r.(?)" "p.(Val1398Ile)" "" "0000514832" "00025753" "50" "4024" "0" "4024" "0" "c.4024G>A" "r.(?)" "p.(Asp1342Asn)" "" "0000514833" "00025753" "50" "4005" "0" "4005" "0" "c.4005C>A" "r.(?)" "p.(Asp1335Glu)" "" "0000514834" "00025753" "70" "3993" "0" "3993" "0" "c.3993dup" "r.(?)" "p.(Arg1332ThrfsTer45)" "" "0000514835" "00025753" "30" "3752" "0" "3752" "0" "c.3752C>T" "r.(?)" "p.(Pro1251Leu)" "" "0000514836" "00025753" "30" "3731" "0" "3731" "0" "c.3731C>T" "r.(?)" "p.(Thr1244Ile)" "" "0000514837" "00025753" "30" "3707" "0" "3707" "0" "c.3707G>C" "r.(?)" "p.(Gly1236Ala)" "" "0000514838" "00025753" "30" "3649" "0" "3649" "0" "c.3649G>A" "r.(?)" "p.(Glu1217Lys)" "" "0000514839" "00025753" "10" "3649" "0" "3649" "0" "c.3649G>A" "r.(?)" "p.(Glu1217Lys)" "" "0000514841" "00025753" "30" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Arg1199Trp)" "" "0000514842" "00025753" "30" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Arg1087Cys)" "" "0000514843" "00025753" "50" "3118" "0" "3118" "0" "c.3118G>A" "r.(?)" "p.(Asp1040Asn)" "" "0000514844" "00025753" "50" "2998" "0" "3012" "0" "c.2998_3012del" "r.(?)" "p.(Ile1000_Leu1004del)" "" "0000514845" "00025753" "30" "2938" "0" "2938" "0" "c.2938A>G" "r.(?)" "p.(Thr980Ala)" "" "0000514846" "00025753" "30" "2887" "0" "2887" "0" "c.2887G>A" "r.(?)" "p.(Glu963Lys)" "" "0000514847" "00025753" "30" "2470" "0" "2470" "0" "c.2470T>A" "r.(?)" "p.(Cys824Ser)" "" "0000514848" "00025753" "30" "2238" "0" "2238" "0" "c.2238G>A" "r.(?)" "p.(Pro746=)" "" "0000514849" "00025753" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Val702Met)" "" "0000514850" "00025753" "30" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Ala667Thr)" "" "0000514851" "00025753" "30" "1950" "0" "1950" "0" "c.1950T>C" "r.(?)" "p.(Asn650=)" "" "0000514852" "00025753" "30" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Asp638Asn)" "" "0000514853" "00025753" "50" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Cys581Tyr)" "" "0000514854" "00025753" "30" "1737" "0" "1737" "0" "c.1737C>A" "r.(?)" "p.(Gly579=)" "" "0000514856" "00025753" "30" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000514857" "00025753" "30" "955" "0" "955" "0" "c.955T>G" "r.(?)" "p.(Cys319Gly)" "" "0000514858" "00025753" "50" "752" "0" "752" "0" "c.752C>T" "r.(?)" "p.(Ala251Val)" "" "0000514859" "00025753" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Met)" "" "0000514860" "00025753" "10" "580" "0" "580" "0" "c.580C>T" "r.(?)" "p.(Leu194=)" "" "0000514861" "00025753" "50" "518" "0" "518" "0" "c.518del" "r.(?)" "p.(Asp173AlafsTer85)" "" "0000514862" "00025753" "30" "-3680" "0" "-3680" "0" "c.-3680C>T" "r.(?)" "p.(=)" "" "0000607537" "00025753" "50" "4483" "0" "4483" "0" "c.4483C>T" "r.(?)" "p.(Arg1495Cys)" "" "0000607538" "00025753" "30" "3850" "0" "3850" "0" "c.3850G>A" "r.(?)" "p.(Gly1284Ser)" "" "0000607539" "00025753" "50" "2947" "0" "2947" "0" "c.2947G>A" "r.(?)" "p.(Val983Ile)" "" "0000607540" "00025753" "30" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Gly798Ser)" "" "0000607541" "00025753" "30" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Val686Ile)" "" "0000607542" "00025753" "30" "984" "0" "984" "0" "c.984G>T" "r.(?)" "p.(Thr328=)" "" "0000607543" "00025753" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Cys)" "" "0000620972" "00025753" "90" "3682" "0" "3682" "0" "c.3682C>T" "r.(?)" "p.(Arg1228Ter)" "" "0000620973" "00025753" "50" "3596" "0" "3596" "0" "c.3596G>A" "r.(?)" "p.(Arg1199Gln)" "" "0000620974" "00025753" "50" "2863" "0" "2863" "0" "c.2863C>A" "r.(?)" "p.(Leu955Met)" "" "0000620975" "00025753" "50" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Asp580Asn)" "" "0000650466" "00025753" "50" "5202" "0" "5202" "0" "c.5202C>A" "r.(?)" "p.(Asp1734Glu)" "" "0000650467" "00025753" "50" "4732" "0" "4732" "0" "c.4732C>T" "r.(?)" "p.(Gln1578*)" "" "0000650468" "00025753" "10" "4361" "0" "4361" "0" "c.4361G>A" "r.(?)" "p.(Arg1454Gln)" "" "0000650469" "00025753" "50" "3752" "0" "3752" "0" "c.3752C>T" "r.(?)" "p.(Pro1251Leu)" "" "0000650470" "00025753" "50" "3649" "0" "3649" "0" "c.3649G>A" "r.(?)" "p.(Glu1217Lys)" "" "0000650471" "00025753" "30" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000653326" "00025753" "90" "1273" "0" "1273" "0" "c.1273dup" "r.(?)" "p.(Thr425Asnfs*40)" "" "0000669607" "00025753" "10" "4361" "0" "4361" "0" "c.4361G>A" "r.(?)" "p.(Arg1454Gln)" "" "0000676531" "00025753" "50" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "p.(Val702Met)" "" "0000676532" "00025753" "50" "992" "0" "992" "0" "c.992C>A" "r.(?)" "p.(Ala331Asp)" "" "0000676533" "00025753" "30" "-1349" "0" "-1349" "0" "c.-1349G>A" "r.(?)" "p.(=)" "" "0000688664" "00025753" "30" "4220" "0" "4220" "0" "c.4220T>C" "r.(?)" "p.(Met1407Thr)" "" "0000688665" "00025753" "30" "3283" "0" "3283" "0" "c.3283G>A" "r.(?)" "p.(Ala1095Thr)" "" "0000688666" "00025753" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Tyr887=)" "" "0000688667" "00025753" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Ser)" "" "0000718525" "00025753" "30" "5514" "0" "5514" "0" "c.5514C>A" "r.(?)" "p.(His1838Gln)" "" "0000718526" "00025753" "50" "5245" "0" "5245" "0" "c.5245G>A" "r.(?)" "p.(Gly1749Arg)" "" "0000718527" "00025753" "30" "4877" "-7" "4877" "-7" "c.4877-7C>T" "r.(=)" "p.(=)" "" "0000718528" "00025753" "30" "4745" "0" "4745" "0" "c.4745G>A" "r.(?)" "p.(Gly1582Glu)" "" "0000718529" "00025753" "30" "4628" "0" "4628" "0" "c.4628T>C" "r.(?)" "p.(Leu1543Pro)" "" "0000718530" "00025753" "30" "4429" "0" "4429" "0" "c.4429G>A" "r.(?)" "p.(Ala1477Thr)" "" "0000718531" "00025753" "50" "4147" "0" "4147" "0" "c.4147G>A" "r.(?)" "p.(Val1383Ile)" "" "0000718532" "00025753" "90" "3931" "0" "3935" "0" "c.3931_3935del" "r.(?)" "p.(Ser1311Glyfs*64)" "" "0000718533" "00025753" "50" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Gly1118Arg)" "" "0000718534" "00025753" "30" "3252" "0" "3252" "0" "c.3252G>A" "r.(?)" "p.(Pro1084=)" "" "0000718535" "00025753" "30" "2947" "0" "2947" "0" "c.2947G>A" "r.(?)" "p.(Val983Ile)" "" "0000718536" "00025753" "30" "1734" "0" "1734" "0" "c.1734G>A" "r.(?)" "p.(Pro578=)" "" "0000718537" "00025753" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Val440Ile)" "" "0000718538" "00025753" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Cys)" "" "0000718539" "00025753" "50" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Tyr410His)" "" "0000718540" "00025753" "30" "593" "0" "593" "0" "c.593C>A" "r.(?)" "p.(Ala198Glu)" "" "0000718541" "00025753" "30" "569" "0" "569" "0" "c.569C>G" "r.(?)" "p.(Ala190Gly)" "" "0000730034" "00025753" "90" "1303" "0" "1303" "0" "c.1303del" "r.(?)" "p.(Arg436Glyfs*14)" "" "0000730035" "00025753" "90" "1303" "0" "1303" "0" "c.1303del" "r.(?)" "p.(Arg436Glyfs*14)" "" "0000730036" "00025753" "90" "1303" "0" "1303" "0" "c.1303del" "r.(?)" "p.(Arg436Glyfs*14)" "" "0000730037" "00025753" "90" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Tyr317*)" "" "0000730038" "00025753" "90" "255" "0" "629" "0" "c.255_629del" "r.(?)" "p.(Ala90_Ala214del)" "" "0000787992" "00025753" "90" "707" "0" "707" "0" "c.707del" "r.(?)" "p.(Asp236Thrfs*22)" "" "0000800414" "00025753" "50" "2608" "0" "2608" "0" "c.2608C>G" "r.(?)" "p.(Gln870Glu)" "" "0000800415" "00025753" "30" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(His355=)" "" "0000800416" "00025753" "30" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Ala251Ser)" "" "0000800417" "00025753" "50" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Gly153Asp)" "" "0000849750" "00025753" "30" "3304" "0" "3304" "0" "c.3304C>T" "r.(?)" "p.(Arg1102Cys)" "" "0000858371" "00025753" "50" "5441" "0" "5441" "0" "c.5441C>T" "r.(?)" "p.(Pro1814Leu)" "" "0000858372" "00025753" "50" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308*)" "" "0000858373" "00025753" "90" "1273" "0" "1273" "0" "c.1273dup" "r.(?)" "p.(Thr425Asnfs*40)" "" "0000858374" "00025753" "50" "962" "0" "962" "0" "c.962C>T" "r.(?)" "p.(Ala321Val)" "" "0000858375" "00025753" "30" "-4025" "0" "-4025" "0" "c.-4025G>A" "r.(?)" "p.(=)" "" "0000884931" "00025753" "30" "4951" "0" "4951" "0" "c.4951G>T" "r.(?)" "p.(Glu1651*)" "" "0000884932" "00025753" "50" "4060" "0" "4060" "0" "c.4060G>A" "r.(?)" "p.(Val1354Met)" "" "0000884933" "00025753" "50" "3077" "0" "3077" "0" "c.3077G>A" "r.(?)" "p.(Gly1026Glu)" "" "0000884934" "00025753" "30" "2953" "457" "2953" "457" "c.2953+457C>T" "r.(=)" "p.(=)" "" "0000884935" "00025753" "30" "1820" "0" "1820" "0" "c.1820A>G" "r.(?)" "p.(His607Arg)" "" "0000884936" "00025753" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Cys)" "" "0000911600" "00025753" "30" "4117" "0" "4117" "0" "c.4117G>A" "r.(?)" "p.(Glu1373Lys)" "" "0000911601" "00025753" "90" "1273" "0" "1273" "0" "c.1273dup" "r.(?)" "p.(Thr425Asnfs*40)" "" "0000928537" "00025753" "50" "1001" "0" "1001" "0" "c.1001T>C" "r.(?)" "p.(Leu334Pro)" "" "0000961925" "00025753" "30" "3950" "0" "3950" "0" "c.3950T>A" "r.(?)" "p.(Leu1317Gln)" "" "0000961926" "00025753" "90" "71" "0" "71" "0" "c.71dup" "r.(?)" "p.(Ser25Lysfs*229)" "" "0000975015" "00025753" "70" "5404" "0" "5404" "0" "c.5404G>T" "r.(?)" "p.(Glu1802*)" "" "0000975016" "00025753" "50" "3955" "0" "3955" "0" "c.3955C>T" "r.(?)" "p.(Gln1319*)" "" "0000975017" "00025753" "50" "3317" "0" "3317" "0" "c.3317C>T" "r.(?)" "p.(Ala1106Val)" "" "0000975018" "00025753" "50" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Gly935Arg)" "" "0000975019" "00025753" "70" "2497" "0" "2497" "0" "c.2497C>T" "r.(?)" "p.(Arg833*)" "" "0000975020" "00025753" "50" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Thr496Ala)" "" "0000992549" "00025753" "30" "5579" "0" "5579" "0" "c.5579G>A" "r.(?)" "p.(Gly1860Asp)" "" "0000992550" "00025753" "50" "4005" "0" "4005" "0" "c.4005C>A" "r.(?)" "p.(Asp1335Glu)" "" "0000992551" "00025753" "50" "3475" "0" "3475" "0" "c.3475G>T" "r.(?)" "p.(Ala1159Ser)" "" "0000992552" "00025753" "30" "2392" "0" "2392" "0" "c.2392G>A" "r.(?)" "p.(Gly798Ser)" "" "0001033023" "00025753" "50" "4664" "0" "4664" "0" "c.4664del" "r.(?)" "p.(Gly1555Alafs*14)" "" "0001033024" "00025753" "50" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Arg1485*)" "" "0001033025" "00025753" "50" "3445" "0" "3445" "0" "c.3445G>A" "r.(?)" "p.(Gly1149Arg)" "" "0001033026" "00025753" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "" "0001033027" "00025753" "50" "3236" "0" "3236" "0" "c.3236A>T" "r.(?)" "p.(Glu1079Val)" "" "0001033028" "00025753" "50" "2680" "8" "2680" "8" "c.2680+8G>A" "r.(=)" "p.(=)" "" "0001033029" "00025753" "50" "1390" "0" "1390" "0" "c.1390G>T" "r.(?)" "p.(Asp464Tyr)" "" "0001033030" "00025753" "50" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Glu390Lys)" "" "0001033031" "00025753" "50" "1109" "0" "1109" "0" "c.1109C>T" "r.(?)" "p.(Pro370Leu)" "" "0001033032" "00025753" "50" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Pro285Gln)" "" "0001033033" "00025753" "30" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Arg284His)" "" "0001033034" "00025753" "50" "690" "0" "690" "0" "c.690del" "r.(?)" "p.(Glu231Argfs*27)" "" "0001045303" "00025753" "90" "1306" "0" "1306" "0" "c.1306del" "r.(?)" "p.(Arg436GlyfsTer14)" "" "0001051089" "00025753" "50" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314Gln)" "" "0001051090" "00025753" "70" "3724" "0" "3724" "0" "c.3724del" "r.(?)" "p.(Leu1242Serfs*29)" "" "0001051091" "00025753" "50" "3341" "0" "3341" "0" "c.3341G>A" "r.(?)" "p.(Trp1114*)" "" "0001051092" "00025753" "50" "2899" "0" "2899" "0" "c.2899G>A" "r.(?)" "p.(Glu967Lys)" "" "0001051093" "00025753" "50" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Arg503His)" "" "0001051094" "00025753" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Asp406Asn)" "" "0001059644" "00025753" "70" "1534" "5" "1534" "5" "c.1534+5G>C" "r.spl" "p.?" "" "0001060894" "00025753" "70" "4951" "0" "4951" "0" "c.4951G>T" "r.(?)" "p.(Glu1651Ter)" "" "0001060895" "00025753" "70" "4951" "0" "4951" "0" "c.4951G>T" "r.(?)" "p.(Glu1651Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000050453" "0000079433" "0000050453" "0000079666" "0000293777" "0000650466" "0000293778" "0000650467" "0000293779" "0000650468" "0000293780" "0000650469" "0000293781" "0000650470" "0000293782" "0000650471" "0000296637" "0000653326" "0000305919" "0000669607" "0000332752" "0000730034" "0000332753" "0000730035" "0000332754" "0000730036" "0000332755" "0000730037" "0000332756" "0000730038" "0000376396" "0000787992" "0000467491" "0001045303" "0000471496" "0001059644" "0000472322" "0001060894" "0000472366" "0001060895"