### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LRBA) # 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}}" "LRBA" "LPS-responsive vesicle trafficking, beach and anchor containing" "4" "q13" "unknown" "NC_000004.11" "UD_134408465988" "" "https://www.LOVD.nl/LRBA" "" "1" "1742" "987" "606453" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2024-07-11 10:01:47" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001596" "LRBA" "transcript variant 1" "002" "NM_001199282.2" "" "NP_001186211.2" "" "" "" "-285" "9619" "8556" "151185811" "151936419" "00000" "2012-09-13 13:41:41" "" "" "00025936" "LRBA" "transcript variant 3 (removed from reference sequence)" "000" "NM_001364905.1" "" "NP_001351834.1" "" "" "MANE select" "-302" "9846" "8559" "1" "1" "00006" "2024-07-11 10:02:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03708" "CVID8" "immunodeficiency, variable, common, type 8, with autoimmunity (CVID-8)" "AR" "614700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LRBA" "03708" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00293551" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293552" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293553" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293554" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293555" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293556" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293557" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293558" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304985" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334317" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334348" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334356" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334366" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334396" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334406" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334511" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334540" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334847" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334852" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334859" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334862" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334869" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334879" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334924" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335016" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335023" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00448364" "" "" "" "1" "" "04659" "" "" "F" "no" "Mexico" "" "0" "" "" "" "patient" "00448365" "" "" "" "1" "" "04659" "" "" "F" "no" "Mexico" "" "0" "" "" "LATINO" "patient" "00449844" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00452106" "" "" "" "1" "" "04725" "Claudia Minici 2024, submitted" "IgG4-related disease" "M" "" "" "" "" "" "" "" "IRD01" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00293551" "00198" "00293552" "00198" "00293553" "00198" "00293554" "00198" "00293555" "00198" "00293556" "00198" "00293557" "00198" "00293558" "00198" "00304985" "00198" "00334317" "05793" "00334348" "05793" "00334356" "05793" "00334366" "05793" "00334396" "05793" "00334406" "05793" "00334511" "05793" "00334540" "05793" "00334847" "05793" "00334852" "05793" "00334859" "05793" "00334862" "05793" "00334869" "05793" "00334879" "05793" "00334924" "05793" "00335016" "05793" "00335023" "05793" "00448364" "03708" "00448365" "03708" "00449844" "00198" "00452106" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 03708, 05793 ## Count = 22 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000253127" "05793" "00334317" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253143" "05793" "00334348" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253151" "05793" "00334356" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253161" "05793" "00334366" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253179" "05793" "00334396" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253189" "05793" "00334406" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253215" "05793" "00334511" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253230" "05793" "00334540" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253244" "05793" "00334847" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253249" "05793" "00334852" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253256" "05793" "00334859" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253259" "05793" "00334862" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253264" "05793" "00334869" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253270" "05793" "00334879" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253276" "05793" "00334924" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253298" "05793" "00335016" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253305" "05793" "00335023" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000337558" "03708" "00448364" "04659" "Familial, autosomal recessive" "" "Colitis, lung disease" "" "" "" "" "" "" "" "" "" "" "" "0000337559" "03708" "00448365" "04659" "Familial, autosomal recessive" "8" "Colitis, lung disease" "" "" "" "LRBA" "" "" "" "" "614700" "CVID" "" "0000338992" "00198" "00449844" "03544" "Familial, autosomal recessive" "" "HP:0002242" "" "" "" "" "" "" "" "" "CVID8" "enteropathy" "" "0000340709" "00198" "00452106" "04725" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "IgG4-related disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000294719" "00293551" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294720" "00293552" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294721" "00293553" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294722" "00293554" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294723" "00293555" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294724" "00293556" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294725" "00293557" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294726" "00293558" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306114" "00304985" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335545" "00334317" "1" "04011" "04011" "2021-02-27 13:42:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335576" "00334348" "1" "04011" "04011" "2021-02-28 03:24:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335584" "00334356" "1" "04011" "04011" "2021-02-28 05:02:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335594" "00334366" "1" "04011" "04011" "2021-02-28 08:30:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335625" "00334396" "1" "04011" "04011" "2021-02-28 12:46:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335635" "00334406" "1" "04011" "04011" "2021-02-28 14:52:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335740" "00334511" "1" "04011" "04011" "2021-03-01 09:51:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335769" "00334540" "1" "04011" "04011" "2021-03-01 13:40:12" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336076" "00334847" "1" "04011" "04011" "2021-03-02 02:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336081" "00334852" "1" "04011" "04011" "2021-03-02 04:46:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336088" "00334859" "1" "04011" "04011" "2021-03-02 06:20:19" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336091" "00334862" "1" "04011" "04011" "2021-03-02 07:32:34" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336098" "00334869" "1" "04011" "04011" "2021-03-02 09:21:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336108" "00334879" "1" "04011" "04011" "2021-03-02 09:52:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336155" "00334924" "1" "04011" "04011" "2021-03-02 13:32:04" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336245" "00335016" "1" "04011" "04011" "2021-03-03 02:53:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336252" "00335023" "1" "04011" "04011" "2021-03-03 03:36:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000449942" "00448364" "1" "04659" "04659" "2024-03-01 20:14:32" "" "" "SEQ-NG" "DNA" "" "" "0000449943" "00448365" "1" "04659" "04659" "2024-03-01 22:24:19" "" "" "SEQ-NG" "DNA" "" "" "0000451440" "00449844" "1" "03544" "03544" "2024-05-17 08:37:25" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000453708" "00452106" "1" "04725" "04725" "2024-07-10 10:57:48" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000449942" "LRBA" "0000449943" "LRBA" ## 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 = 237 "{{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}}" "0000004030" "0" "50" "4" "151884313" "151884313" "subst" "0" "00037" "LRBA_000001" "g.151884313A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.150963161A>C" "" "VUS" "" "0000250705" "0" "10" "4" "151835513" "151835513" "del" "0" "02326" "LRBA_000038" "g.151835513del" "" "" "" "LRBA(NM_001199282.2):c.1015-10delT, LRBA(NM_001364905.1):c.1015-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914361del" "" "benign" "" "0000251309" "0" "10" "4" "151835501" "151835501" "del" "0" "02326" "LRBA_000037" "g.151835501del" "" "" "" "LRBA(NM_001199282.2):c.1015-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914349del" "" "benign" "" "0000251781" "0" "30" "4" "151207143" "151207143" "subst" "0.000290526" "02326" "LRBA_000006" "g.151207143A>G" "" "" "" "LRBA(NM_001199282.2):c.8058T>C (p.Y2686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150285991A>G" "" "likely benign" "" "0000251782" "0" "30" "4" "151738340" "151738340" "subst" "0.00104679" "02326" "LRBA_000022" "g.151738340A>G" "" "" "" "LRBA(NM_001199282.2):c.5241T>C (p.N1747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150817188A>G" "" "likely benign" "" "0000252084" "0" "30" "4" "151271316" "151271316" "subst" "0" "02326" "LRBA_000011" "g.151271316A>G" "" "" "" "LRBA(NM_001199282.2):c.7195-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150350164A>G" "" "likely benign" "" "0000252085" "0" "30" "4" "151683013" "151683013" "del" "0" "02326" "LRBA_000020" "g.151683013del" "" "" "" "LRBA(NM_001199282.2):c.5581-5delT, LRBA(NM_001364905.1):c.5581-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150761861del" "" "likely benign" "" "0000252086" "0" "30" "4" "151683005" "151683005" "subst" "0" "02326" "LRBA_000021" "g.151683005A>T" "" "" "" "LRBA(NM_001199282.2):c.5581-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150761853A>T" "" "likely benign" "" "0000252087" "0" "30" "4" "151835504" "151835504" "subst" "0" "02326" "LRBA_000039" "g.151835504A>G" "" "" "" "LRBA(NM_001199282.2):c.1015-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914352A>G" "" "likely benign" "" "0000253057" "0" "10" "4" "151835513" "151835513" "del" "0" "01943" "LRBA_000038" "g.151835513del" "" "" "" "LRBA(NM_001199282.2):c.1015-10delT, LRBA(NM_001364905.1):c.1015-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914361del" "" "benign" "" "0000254307" "0" "30" "4" "151773178" "151773178" "subst" "0.00106475" "01943" "LRBA_000028" "g.151773178A>G" "" "" "" "LRBA(NM_001199282.2):c.3684T>C (p.C1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150852026A>G" "" "likely benign" "" "0000254543" "0" "30" "4" "151505226" "151505226" "subst" "0" "01943" "MAB21L2_000001" "g.151505226A>G" "" "" "" "MAB21L2(NM_006439.4):c.1045A>G (p.I349V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150584074A>G" "" "likely benign" "" "0000255943" "0" "50" "4" "151753107" "151753107" "subst" "0.000947337" "01943" "LRBA_000023" "g.151753107A>C" "" "" "" "LRBA(NM_001199282.2):c.4591T>G (p.F1531V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150831955A>C" "" "VUS" "" "0000255958" "0" "50" "4" "151827478" "151827478" "subst" "4.06961E-6" "01943" "LRBA_000036" "g.151827478A>C" "" "" "" "LRBA(NM_001199282.2):c.1573T>G (p.F525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150906326A>C" "" "VUS" "" "0000282281" "0" "10" "4" "151765243" "151765243" "subst" "0.861669" "02325" "LRBA_000024" "g.151765243G>A" "" "" "" "LRBA(NM_001199282.2):c.4569+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150844091G>A" "" "benign" "" "0000282282" "0" "10" "4" "151231371" "151231371" "subst" "0.596881" "02325" "LRBA_000007" "g.151231371T>C" "" "" "" "LRBA(NM_001199282.2):c.7849+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150310219T>C" "" "benign" "" "0000286031" "0" "30" "4" "151935681" "151935681" "subst" "0.00120324" "02326" "LRBA_000045" "g.151935681C>A" "" "" "" "LRBA(NM_001199282.2):c.114G>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151014529C>A" "" "likely benign" "" "0000286032" "0" "50" "4" "151935626" "151935626" "subst" "2.84287E-5" "02326" "LRBA_000044" "g.151935626C>T" "" "" "" "LRBA(NM_001199282.2):c.169G>A (p.V57I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151014474C>T" "" "VUS" "" "0000286033" "0" "10" "4" "151850238" "151850238" "dup" "0" "02326" "LRBA_000043" "g.151850238dup" "" "" "" "LRBA(NM_001199282.2):c.217-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150929086dup" "" "benign" "" "0000286034" "0" "30" "4" "151850226" "151850226" "subst" "0" "02326" "LRBA_000042" "g.151850226G>A" "" "" "" "LRBA(NM_001199282.2):c.217-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150929074G>A" "" "likely benign" "" "0000286035" "0" "30" "4" "151793903" "151793903" "subst" "0.0213161" "02326" "LRBA_000033" "g.151793903T>C" "" "" "" "LRBA(NM_001199282.2):c.2170A>G (p.I724V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150872751T>C" "" "likely benign" "" "0000286036" "0" "30" "4" "151772068" "151772068" "subst" "4.39232E-6" "02326" "LRBA_000026" "g.151772068T>G" "" "" "" "LRBA(NM_001199282.2):c.3826-14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150850916T>G" "" "likely benign" "" "0000286037" "0" "10" "4" "151771932" "151771932" "subst" "0.00138305" "02326" "LRBA_000025" "g.151771932T>C" "" "" "" "LRBA(NM_001199282.2):c.3948A>G (p.Q1316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150850780T>C" "" "benign" "" "0000286038" "0" "10" "4" "151412049" "151412049" "subst" "0.00745928" "02326" "LRBA_000012" "g.151412049C>T" "" "" "" "LRBA(NM_001199282.2):c.6448+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150490897C>T" "" "benign" "" "0000286039" "0" "30" "4" "151242409" "151242409" "subst" "0.00426225" "02326" "LRBA_000010" "g.151242409T>G" "" "" "" "LRBA(NM_001199282.2):c.7564A>C (p.T2522P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150321257T>G" "" "likely benign" "" "0000286040" "0" "30" "4" "151837665" "151837665" "subst" "4.49075E-5" "02326" "LRBA_000040" "g.151837665T>C" "" "" "" "LRBA(NM_001199282.2):c.782A>G (p.K261R), LRBA(NM_001364905.1):c.782A>G (p.(Lys261Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150916513T>C" "" "likely benign" "" "0000286041" "0" "10" "4" "151207098" "151207098" "subst" "0.00276323" "02326" "LRBA_000005" "g.151207098C>G" "" "" "" "LRBA(NM_001199282.2):c.8103G>C (p.L2701F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150285946C>G" "" "benign" "" "0000291087" "0" "30" "4" "151827032" "151827032" "subst" "0.000598573" "01943" "LRBA_000035" "g.151827032G>A" "" "" "" "LRBA(NM_001199282.2):c.1713C>T (p.H571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150905880G>A" "" "likely benign" "" "0000291088" "0" "50" "4" "151821326" "151821326" "subst" "0" "01943" "LRBA_000034" "g.151821326C>T" "" "" "" "LRBA(NM_001199282.2):c.1799G>A (p.G600D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150900174C>T" "" "VUS" "" "0000291090" "0" "30" "4" "151792524" "151792524" "subst" "0.00101273" "01943" "LRBA_000032" "g.151792524T>C" "" "" "" "LRBA(NM_001199282.2):c.2340A>G (p.T780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150871372T>C" "" "likely benign" "" "0000291091" "0" "50" "4" "151788915" "151788915" "subst" "0.00117856" "01943" "LRBA_000031" "g.151788915C>T" "" "" "" "LRBA(NM_001199282.2):c.2674G>A (p.A892T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150867763C>T" "" "VUS" "" "0000291092" "0" "30" "4" "151773935" "151773935" "subst" "9.79336E-5" "01943" "LRBA_000030" "g.151773935G>A" "" "" "" "LRBA(NM_001199282.2):c.2927C>T (p.T976M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150852783G>A" "" "likely benign" "" "0000291093" "0" "30" "4" "151773363" "151773363" "subst" "0.000232024" "01943" "LRBA_000029" "g.151773363T>C" "" "" "" "LRBA(NM_001199282.2):c.3499A>G (p.T1167A), LRBA(NM_006726.4):c.3499A>G (p.T1167A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150852211T>C" "" "likely benign" "" "0000291094" "0" "10" "4" "151773173" "151773173" "subst" "0.00188162" "01943" "LRBA_000027" "g.151773173C>T" "" "" "" "LRBA(NM_001199282.2):c.3689G>A (p.G1230D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150852021C>T" "" "benign" "" "0000291095" "0" "30" "4" "151771932" "151771932" "subst" "0.00138305" "01943" "LRBA_000025" "g.151771932T>C" "" "" "" "LRBA(NM_001199282.2):c.3948A>G (p.Q1316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150850780T>C" "" "likely benign" "" "0000291096" "0" "30" "4" "151935743" "151935743" "subst" "0.00170619" "01943" "LRBA_000046" "g.151935743C>T" "" "" "" "LRBA(NM_001199282.2):c.52G>A (p.G18R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151014591C>T" "" "likely benign" "" "0000291097" "0" "30" "4" "151511895" "151511895" "subst" "0.000630491" "01943" "LRBA_000019" "g.151511895C>T" "" "" "" "LRBA(NM_001199282.2):c.6163G>A (p.V2055M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150590743C>T" "" "likely benign" "" "0000291098" "0" "30" "4" "151231429" "151231429" "subst" "6.10262E-5" "01943" "LRBA_000009" "g.151231429C>T" "" "" "" "LRBA(NM_001199282.2):c.7801G>A (p.V2601I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150310277C>T" "" "likely benign" "" "0000291099" "0" "50" "4" "151231390" "151231390" "subst" "0.000138431" "01943" "LRBA_000008" "g.151231390T>C" "" "" "" "LRBA(NM_001199282.2):c.7840A>G (p.T2614A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150310238T>C" "" "VUS" "" "0000291100" "0" "50" "4" "151199155" "151199155" "subst" "9.38117E-5" "01943" "LRBA_000004" "g.151199155G>A" "" "" "" "LRBA(NM_001199282.2):c.8315C>T (p.A2772V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150278003G>A" "" "VUS" "" "0000291101" "0" "30" "4" "151199070" "151199070" "subst" "0.00112161" "01943" "LRBA_000003" "g.151199070C>G" "" "" "" "LRBA(NM_001199282.2):c.8400G>C (p.K2800N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150277918C>G" "" "likely benign" "" "0000291102" "0" "50" "4" "151186882" "151186882" "subst" "0.00126382" "01943" "LRBA_000002" "g.151186882G>A" "" "" "" "LRBA(NM_001199282.2):c.8548C>T (p.R2850C), LRBA(NM_006726.4):c.8584C>T (p.R2862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150265730G>A" "" "VUS" "" "0000291302" "0" "30" "4" "151504299" "151504299" "subst" "0" "01943" "LRBA_000014" "g.151504299G>C" "" "" "" "MAB21L2(NM_006439.4):c.118G>C (p.D40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583147G>C" "" "likely benign" "" "0000291303" "0" "30" "4" "151504466" "151504466" "subst" "4.06194E-6" "01943" "LRBA_000015" "g.151504466C>T" "" "" "" "MAB21L2(NM_006439.4):c.285C>T (p.P95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583314C>T" "" "likely benign" "" "0000291304" "0" "50" "4" "151504471" "151504471" "subst" "5.68657E-5" "01943" "LRBA_000016" "g.151504471G>A" "" "" "" "MAB21L2(NM_006439.4):c.290G>A (p.C97Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583319G>A" "" "VUS" "" "0000291305" "0" "50" "4" "151504534" "151504534" "subst" "0" "01943" "LRBA_000017" "g.151504534C>A" "" "" "" "MAB21L2(NM_006439.4):c.353C>A (p.T118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583382C>A" "" "VUS" "" "0000291306" "0" "50" "4" "151504246" "151504246" "subst" "8.15548E-6" "01943" "LRBA_000013" "g.151504246C>A" "" "" "" "MAB21L2(NM_006439.4):c.65C>A (p.A22E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583094C>A" "" "VUS" "" "0000291307" "0" "30" "4" "151505135" "151505135" "subst" "0.000560752" "01943" "LRBA_000018" "g.151505135C>T" "" "" "" "MAB21L2(NM_006439.4):c.954C>T (p.H318=), MAB21L2(NM_006439.5):c.954C>T (p.H318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150583983C>T" "" "likely benign" "" "0000337246" "0" "10" "4" "151231371" "151231371" "subst" "0.596881" "02327" "LRBA_000007" "g.151231371T>C" "" "" "" "LRBA(NM_001199282.2):c.7849+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150310219T>C" "" "benign" "" "0000337247" "0" "10" "4" "151765243" "151765243" "subst" "0.861669" "02327" "LRBA_000024" "g.151765243G>A" "" "" "" "LRBA(NM_001199282.2):c.4569+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150844091G>A" "" "benign" "" "0000339472" "0" "10" "4" "151829824" "151829824" "subst" "0.110144" "02327" "LRBA_000052" "g.151829824T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150908672T>C" "" "benign" "" "0000340854" "0" "10" "4" "151835364" "151835364" "subst" "0.0390321" "02327" "LRBA_000053" "g.151835364A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914212A>G" "" "benign" "" "0000340876" "0" "50" "4" "151788952" "151788952" "subst" "0.00178532" "02327" "LRBA_000051" "g.151788952C>T" "" "" "" "LRBA(NM_001199282.2):c.2637G>A (p.K879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150867800C>T" "" "VUS" "" "0000341114" "0" "10" "4" "151773593" "151773593" "subst" "0.124518" "02327" "LRBA_000050" "g.151773593G>C" "" "" "" "LRBA(NM_001199282.2):c.3269C>G (p.A1090G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150852441G>C" "" "benign" "" "0000342184" "0" "30" "4" "151520216" "151520216" "subst" "0.0240683" "02327" "LRBA_000048" "g.151520216G>A" "" "" "" "LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150599064G>A" "" "likely benign" "" "0000345936" "0" "50" "4" "151207094" "151207094" "subst" "7.56918E-5" "02327" "LRBA_000047" "g.151207094C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150285942C>T" "" "VUS" "" "0000346015" "0" "70" "4" "151835471" "151835471" "subst" "0" "02327" "LRBA_000054" "g.151835471C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150914319C>T" "" "likely pathogenic" "" "0000521770" "0" "30" "4" "151186865" "151186865" "subst" "0.00189518" "02327" "LRBA_000055" "g.151186865C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150265713C>A" "" "likely benign" "" "0000521771" "0" "50" "4" "151186906" "151186906" "subst" "7.37439E-5" "01804" "LRBA_000056" "g.151186906G>A" "" "" "" "LRBA(NM_001364905.1):c.8527C>T (p.(Arg2843Trp)), LRBA(NM_006726.4):c.8560C>T (p.R2854W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150265754G>A" "" "VUS" "" "0000521772" "0" "30" "4" "151199013" "151199013" "subst" "0.000439185" "02326" "LRBA_000057" "g.151199013G>A" "" "" "" "LRBA(NM_001199282.2):c.8457C>T (p.Y2819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150277861G>A" "" "likely benign" "" "0000521773" "0" "10" "4" "151207116" "151207116" "subst" "0.00118258" "01943" "LRBA_000058" "g.151207116C>T" "" "" "" "LRBA(NM_001199282.2):c.8085G>A (p.A2695=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150285964C>T" "" "benign" "" "0000521774" "0" "30" "4" "151207155" "151207155" "subst" "0" "02326" "LRBA_000059" "g.151207155G>A" "" "" "" "LRBA(NM_001199282.2):c.8046C>T (p.T2682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150286003G>A" "" "likely benign" "" "0000521775" "0" "30" "4" "151207172" "151207172" "subst" "0" "01804" "LRBA_000060" "g.151207172G>A" "" "" "" "LRBA(NM_001199282.2):c.8029C>T (p.(Pro2677Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150286020G>A" "" "likely benign" "" "0000521776" "0" "30" "4" "151207180" "151207180" "subst" "0.000414664" "01943" "LRBA_000061" "g.151207180G>A" "" "" "" "LRBA(NM_001199282.2):c.8021C>T (p.T2674I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150286028G>A" "" "likely benign" "" "0000521777" "0" "30" "4" "151236693" "151236693" "subst" "5.3005E-5" "02326" "LRBA_000062" "g.151236693G>A" "" "" "" "LRBA(NM_001199282.2):c.7693+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150315541G>A" "" "likely benign" "" "0000521778" "0" "30" "4" "151242422" "151242422" "subst" "0" "01943" "LRBA_000063" "g.151242422C>T" "" "" "" "LRBA(NM_001199282.2):c.7551G>A (p.Q2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150321270C>T" "" "likely benign" "" "0000521780" "0" "50" "4" "151356763" "151356763" "subst" "0" "02327" "LRBA_000065" "g.151356763T>C" "" "" "" "LRBA(NM_001199282.2):c.7019A>G (p.Q2340R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150435611T>C" "" "VUS" "" "0000521781" "0" "50" "4" "151356763" "151356763" "subst" "0" "02325" "LRBA_000065" "g.151356763T>C" "" "" "" "LRBA(NM_001199282.2):c.7019A>G (p.Q2340R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150435611T>C" "" "VUS" "" "0000521782" "0" "50" "4" "151357876" "151357876" "subst" "4.5017E-5" "01943" "LRBA_000066" "g.151357876T>C" "" "" "" "LRBA(NM_001199282.2):c.6921A>G (p.I2307M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150436724T>C" "" "VUS" "" "0000521784" "0" "30" "4" "151358023" "151358023" "subst" "4.0807E-6" "01943" "LRBA_000068" "g.151358023A>G" "" "" "" "LRBA(NM_001199282.2):c.6781-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150436871A>G" "" "likely benign" "" "0000521785" "0" "50" "4" "151392821" "151392821" "subst" "4.1231E-6" "02325" "LRBA_000069" "g.151392821C>T" "" "" "" "LRBA(NM_001199282.2):c.6622G>A (p.E2208K), LRBA(NM_001364905.1):c.6622G>A (p.(Glu2208Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150471669C>T" "" "VUS" "" "0000521786" "0" "30" "4" "151408909" "151408909" "subst" "8.15036E-6" "01804" "LRBA_000070" "g.151408909T>C" "" "" "" "LRBA(NM_001199282.2):c.6526A>G (p.(Thr2176Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150487757T>C" "" "likely benign" "" "0000521787" "0" "30" "4" "151412053" "151412053" "subst" "0.00272336" "02326" "LRBA_000071" "g.151412053T>C" "" "" "" "LRBA(NM_001199282.2):c.6448+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150490901T>C" "" "likely benign" "" "0000521788" "0" "50" "4" "151412186" "151412186" "subst" "1.70413E-5" "01943" "LRBA_000072" "g.151412186A>C" "" "" "" "LRBA(NM_001199282.2):c.6332T>G (p.I2111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150491034A>C" "" "VUS" "" "0000521789" "0" "70" "4" "151504333" "151504333" "subst" "0" "02327" "LRBA_000073" "g.151504333G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150583181G>A" "" "likely pathogenic" "" "0000521791" "0" "30" "4" "151512009" "151512009" "subst" "1.22281E-5" "01943" "LRBA_000075" "g.151512009T>G" "" "" "" "LRBA(NM_006726.4):c.6082A>C (p.T2028P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150590857T>G" "" "likely benign" "" "0000521792" "0" "30" "4" "151518235" "151518235" "subst" "0" "01804" "LRBA_000076" "g.151518235C>A" "" "" "" "LRBA(NM_006726.4):c.6079G>T (p.(Ala2027Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150597083C>A" "" "likely benign" "" "0000521793" "0" "30" "4" "151520216" "151520216" "subst" "0.0240683" "01804" "LRBA_000048" "g.151520216G>A" "" "" "" "LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150599064G>A" "" "likely benign" "" "0000521794" "0" "10" "4" "151520216" "151520216" "subst" "0.0240683" "02326" "LRBA_000048" "g.151520216G>A" "" "" "" "LRBA(NM_001199282.2):c.5989C>T (p.(Arg1997Cys), p.R1997C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150599064G>A" "" "benign" "" "0000521795" "0" "50" "4" "151520263" "151520263" "subst" "2.43928E-5" "01943" "LRBA_000077" "g.151520263C>T" "" "" "" "LRBA(NM_001199282.2):c.5942G>A (p.R1981H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150599111C>T" "" "VUS" "" "0000521796" "0" "50" "4" "151656420" "151656420" "subst" "0.000207413" "01943" "LRBA_000078" "g.151656420G>A" "" "" "" "LRBA(NM_001199282.2):c.5744C>T (p.A1915V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150735268G>A" "" "VUS" "" "0000521798" "0" "10" "4" "151752985" "151752985" "subst" "0.00107028" "01943" "LRBA_000080" "g.151752985C>T" "" "" "" "LRBA(NM_001199282.2):c.4713G>A (p.E1571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150831833C>T" "" "benign" "" "0000521800" "0" "30" "4" "151765894" "151765894" "subst" "8.94403E-5" "02326" "LRBA_000082" "g.151765894T>C" "" "" "" "LRBA(NM_001199282.2):c.4377A>G (p.Q1459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150844742T>C" "" "likely benign" "" "0000521801" "0" "30" "4" "151769952" "151769952" "subst" "0.000850372" "02326" "LRBA_000083" "g.151769952C>T" "" "" "" "LRBA(NM_001199282.2):c.4339+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150848800C>T" "" "likely benign" "" "0000521803" "0" "10" "4" "151773593" "151773593" "subst" "0.124518" "02325" "LRBA_000050" "g.151773593G>C" "" "" "" "LRBA(NM_001199282.2):c.3269C>G (p.A1090G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150852441G>C" "" "benign" "" "0000521804" "0" "50" "4" "151773618" "151773618" "subst" "2.03568E-5" "02327" "LRBA_000085" "g.151773618T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150852466T>C" "" "VUS" "" "0000521805" "0" "30" "4" "151773853" "151773853" "subst" "0.000407451" "02326" "LRBA_000086" "g.151773853A>T" "" "" "" "LRBA(NM_001199282.2):c.3009T>A (p.S1003=), LRBA(NM_006726.4):c.3009T>A (p.S1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150852701A>T" "" "likely benign" "" "0000521806" "0" "30" "4" "151773855" "151773855" "subst" "0" "01943" "LRBA_000087" "g.151773855A>G" "" "" "" "LRBA(NM_001199282.2):c.3007T>C (p.S1003P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150852703A>G" "" "likely benign" "" "0000521807" "0" "90" "4" "151788939" "151788939" "subst" "0" "02327" "LRBA_000088" "g.151788939G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150867787G>A" "" "pathogenic" "" "0000521808" "0" "30" "4" "151788952" "151788952" "subst" "0.00178532" "01943" "LRBA_000051" "g.151788952C>T" "" "" "" "LRBA(NM_001199282.2):c.2637G>A (p.K879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150867800C>T" "" "likely benign" "" "0000521809" "0" "30" "4" "151788952" "151788952" "subst" "0.00178532" "02326" "LRBA_000051" "g.151788952C>T" "" "" "" "LRBA(NM_001199282.2):c.2637G>A (p.K879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150867800C>T" "" "likely benign" "" "0000521810" "0" "30" "4" "151789439" "151789439" "subst" "1.63523E-5" "01804" "LRBA_000089" "g.151789439G>A" "" "" "" "LRBA(NM_001199282.2):c.2468C>T (p.(Ala823Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150868287G>A" "" "likely benign" "" "0000521811" "0" "30" "4" "151791682" "151791682" "subst" "0.00226507" "01943" "LRBA_000090" "g.151791682T>C" "" "" "" "LRBA(NM_001199282.2):c.2444A>G (p.N815S), LRBA(NM_001364905.1):c.2444A>G (p.(Asn815Ser)), LRBA(NM_006726.4):c.2444A>G (p.N815S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150870530T>C" "" "likely benign" "" "0000521812" "0" "30" "4" "151791682" "151791682" "subst" "0.00226507" "01804" "LRBA_000090" "g.151791682T>C" "" "" "" "LRBA(NM_001199282.2):c.2444A>G (p.N815S), LRBA(NM_001364905.1):c.2444A>G (p.(Asn815Ser)), LRBA(NM_006726.4):c.2444A>G (p.N815S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150870530T>C" "" "likely benign" "" "0000521813" "0" "30" "4" "151791682" "151791682" "subst" "0.00226507" "02326" "LRBA_000090" "g.151791682T>C" "" "" "" "LRBA(NM_001199282.2):c.2444A>G (p.N815S), LRBA(NM_001364905.1):c.2444A>G (p.(Asn815Ser)), LRBA(NM_006726.4):c.2444A>G (p.N815S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150870530T>C" "" "likely benign" "" "0000521814" "0" "30" "4" "151792524" "151792524" "subst" "0.00101273" "02326" "LRBA_000032" "g.151792524T>C" "" "" "" "LRBA(NM_001199282.2):c.2340A>G (p.T780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150871372T>C" "" "likely benign" "" "0000521816" "0" "10" "4" "151827056" "151827056" "subst" "0.00101341" "01943" "LRBA_000092" "g.151827056G>T" "" "" "" "LRBA(NM_001199282.2):c.1689C>A (p.P563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150905904G>T" "" "benign" "" "0000521817" "0" "10" "4" "151827146" "151827146" "subst" "0.0285324" "02326" "LRBA_000093" "g.151827146C>A" "" "" "" "LRBA(NM_001199282.2):c.1603-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150905994C>A" "" "benign" "" "0000521818" "0" "10" "4" "151827538" "151827538" "subst" "0.00145403" "01943" "LRBA_000094" "g.151827538T>C" "" "" "" "LRBA(NM_001199282.2):c.1513A>G (p.I505V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150906386T>C" "" "benign" "" "0000521820" "0" "50" "4" "151829543" "151829543" "subst" "0" "01943" "LRBA_000095" "g.151829543A>C" "" "" "" "LRBA(NM_001199282.2):c.1436T>G (p.L479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150908391A>C" "" "VUS" "" "0000521821" "0" "30" "4" "151829580" "151829580" "subst" "0.00211327" "01943" "LRBA_000096" "g.151829580T>C" "" "" "" "LRBA(NM_001199282.2):c.1399A>G (p.(Met467Val), p.M467V), LRBA(NM_001367550.1):c.1399A>G (p.M467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150908428T>C" "" "likely benign" "" "0000521822" "0" "50" "4" "151829580" "151829580" "subst" "0.00211327" "02327" "LRBA_000096" "g.151829580T>C" "" "" "" "LRBA(NM_001199282.2):c.1399A>G (p.(Met467Val), p.M467V), LRBA(NM_001367550.1):c.1399A>G (p.M467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150908428T>C" "" "VUS" "" "0000521823" "0" "10" "4" "151835513" "151835513" "dup" "0" "01943" "LRBA_000097" "g.151835513dup" "" "" "" "LRBA(NM_001199282.2):c.1015-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150914361dup" "" "benign" "" "0000521824" "0" "30" "4" "151835513" "151835513" "dup" "0" "02326" "LRBA_000097" "g.151835513dup" "" "" "" "LRBA(NM_001199282.2):c.1015-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150914361dup" "" "likely benign" "" "0000521826" "0" "30" "4" "151837819" "151837819" "subst" "0" "01943" "LRBA_000099" "g.151837819C>A" "" "" "" "LRBA(NM_001199282.2):c.717G>T (p.M239I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150916667C>A" "" "likely benign" "" "0000521827" "0" "10" "4" "151850238" "151850238" "dup" "0" "01943" "LRBA_000043" "g.151850238dup" "" "" "" "LRBA(NM_001199282.2):c.217-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150929086dup" "" "benign" "" "0000521828" "0" "30" "4" "151935681" "151935681" "subst" "0.00120324" "01943" "LRBA_000045" "g.151935681C>A" "" "" "" "LRBA(NM_001199282.2):c.114G>T (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151014529C>A" "" "likely benign" "" "0000609086" "0" "30" "4" "151505135" "151505135" "subst" "0.000560752" "02326" "LRBA_000018" "g.151505135C>T" "" "" "" "MAB21L2(NM_006439.4):c.954C>T (p.H318=), MAB21L2(NM_006439.5):c.954C>T (p.H318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150583983C>T" "" "likely benign" "" "0000609087" "0" "30" "4" "151773853" "151773853" "subst" "0.000407451" "01943" "LRBA_000086" "g.151773853A>T" "" "" "" "LRBA(NM_001199282.2):c.3009T>A (p.S1003=), LRBA(NM_006726.4):c.3009T>A (p.S1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150852701A>T" "" "likely benign" "" "0000609088" "0" "30" "4" "151829580" "151829580" "subst" "0.00211327" "01804" "LRBA_000096" "g.151829580T>C" "" "" "" "LRBA(NM_001199282.2):c.1399A>G (p.(Met467Val), p.M467V), LRBA(NM_001367550.1):c.1399A>G (p.M467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150908428T>C" "" "likely benign" "" "0000609089" "0" "30" "4" "151829580" "151829580" "subst" "0.00211327" "02325" "LRBA_000096" "g.151829580T>C" "" "" "" "LRBA(NM_001199282.2):c.1399A>G (p.(Met467Val), p.M467V), LRBA(NM_001367550.1):c.1399A>G (p.M467V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150908428T>C" "" "likely benign" "" "0000609090" "0" "70" "4" "151849985" "151849985" "subst" "0" "02327" "LRBA_000105" "g.151849985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150928833C>T" "" "likely pathogenic" "" "0000621362" "0" "30" "4" "151203671" "151203671" "subst" "4.87452E-5" "02326" "LRBA_000100" "g.151203671G>A" "" "" "" "LRBA(NM_001199282.2):c.8244C>T (p.N2748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150282519G>A" "" "likely benign" "" "0000621363" "0" "30" "4" "151504638" "151504638" "subst" "0.000248412" "01943" "LRBA_000101" "g.151504638G>A" "" "" "" "MAB21L2(NM_006439.4):c.457G>A (p.A153T), MAB21L2(NM_006439.5):c.457G>A (p.(Ala153Thr), p.A153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150583486G>A" "" "likely benign" "" "0000621364" "0" "30" "4" "151727559" "151727559" "subst" "0" "02326" "LRBA_000102" "g.151727559A>G" "" "" "" "LRBA(NM_001199282.2):c.5385-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150806407A>G" "" "likely benign" "" "0000621365" "0" "30" "4" "151752951" "151752951" "subst" "1.33416E-5" "02326" "LRBA_000103" "g.151752951T>C" "" "" "" "LRBA(NM_001199282.2):c.4729+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150831799T>C" "" "likely benign" "" "0000621366" "0" "30" "4" "151753004" "151753004" "subst" "2.10674E-5" "01943" "LRBA_000104" "g.151753004T>C" "" "" "" "LRBA(NM_001364905.1):c.4694A>G (p.(Glu1565Gly)), LRBA(NM_001367550.1):c.4694A>G (p.E1565G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150831852T>C" "" "likely benign" "" "0000651408" "1" "50" "4" "151199033" "151199033" "subst" "0.000121927" "03575" "LRBA_000106" "g.151199033G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs143351602}" "Germline" "" "rs143351602" "0" "" "" "g.150277881G>A" "" "VUS" "" "0000651409" "1" "50" "4" "151392781" "151392781" "subst" "0.000147532" "03575" "LRBA_000107" "g.151392781A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116526975}" "Germline" "" "rs116526975" "0" "" "" "g.150471629A>G" "" "VUS" "" "0000651410" "1" "50" "4" "151509208" "151509208" "subst" "0.000442101" "03575" "LRBA_000108" "g.151509208C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs142598024}" "Germline" "" "rs142598024" "0" "" "" "g.150588056C>T" "" "VUS" "" "0000651411" "1" "30" "4" "151520216" "151520216" "subst" "0.0240683" "03575" "LRBA_000048" "g.151520216G>A" "42/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous, no homozygous; {DB:CLININrs35879351}" "Germline" "" "rs35879351" "0" "" "" "g.150599064G>A" "" "likely benign" "" "0000651412" "1" "10" "4" "151765336" "151765336" "subst" "0.0208101" "03575" "LRBA_000113" "g.151765336G>A" "52/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous; {DB:CLININrs11735845}" "Germline" "" "rs11735845" "0" "" "" "g.150844184G>A" "" "benign" "" "0000651413" "1" "50" "4" "151791682" "151791682" "subst" "0.00226507" "03575" "LRBA_000090" "g.151791682T>C" "1/2729 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs140666848}" "Germline" "" "rs140666848" "0" "" "" "g.150870530T>C" "" "VUS" "" "0000651414" "1" "50" "4" "151793864" "151793864" "subst" "0.000287763" "03575" "LRBA_000109" "g.151793864C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs151213445}" "Germline" "" "rs151213445" "0" "" "" "g.150872712C>T" "" "VUS" "" "0000651415" "1" "10" "4" "151793903" "151793903" "subst" "0.0213161" "03575" "LRBA_000033" "g.151793903T>C" "105/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "105 heterozygous, no homozygous; {DB:CLININrs72719663}" "Germline" "" "rs72719663" "0" "" "" "g.150872751T>C" "" "benign" "" "0000655104" "0" "50" "4" "151186882" "151186882" "subst" "0.00126382" "02325" "LRBA_000002" "g.151186882G>A" "" "" "" "LRBA(NM_001199282.2):c.8548C>T (p.R2850C), LRBA(NM_006726.4):c.8584C>T (p.R2862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150265730G>A" "" "VUS" "" "0000655105" "0" "30" "4" "151604887" "151604887" "del" "0" "02326" "LRBA_000110" "g.151604887del" "" "" "" "LRBA(NM_001199282.2):c.5755-10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150683735del" "" "likely benign" "" "0000655106" "0" "50" "4" "151827478" "151827478" "subst" "4.06961E-6" "02325" "LRBA_000036" "g.151827478A>C" "" "" "" "LRBA(NM_001199282.2):c.1573T>G (p.F525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150906326A>C" "" "VUS" "" "0000655107" "0" "30" "4" "151837682" "151837682" "subst" "0" "01804" "LRBA_000111" "g.151837682A>G" "" "" "" "LRBA(NM_001199282.2):c.768-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150916530A>G" "" "likely benign" "" "0000655108" "0" "50" "4" "151850208" "151850208" "subst" "0" "01943" "LRBA_000112" "g.151850208C>G" "" "" "" "LRBA(NM_001367550.1):c.226G>C (p.G76R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150929056C>G" "" "VUS" "" "0000669802" "3" "10" "4" "151765336" "151765336" "subst" "0.0208101" "03575" "LRBA_000113" "g.151765336G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11735845}" "Germline" "" "rs11735845" "0" "" "" "g.150844184G>A" "" "benign" "" "0000677205" "0" "50" "4" "151738323" "151738323" "subst" "0" "01943" "LRBA_000114" "g.151738323G>A" "" "" "" "LRBA(NM_006726.4):c.5258C>T (p.S1753F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677206" "0" "30" "4" "151749759" "151749759" "subst" "4.09182E-6" "02326" "LRBA_000115" "g.151749759C>T" "" "" "" "LRBA(NM_001199282.2):c.4744G>A (p.A1582T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677207" "0" "30" "4" "151769986" "151769986" "subst" "0.00182618" "02326" "LRBA_000116" "g.151769986C>A" "" "" "" "LRBA(NM_001199282.2):c.4323G>T (p.R1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677208" "0" "30" "4" "151788901" "151788901" "subst" "1.62549E-5" "01943" "LRBA_000117" "g.151788901G>T" "" "" "" "LRBA(NM_006726.4):c.2688C>A (p.I896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677209" "0" "70" "4" "151789460" "151789460" "subst" "8.40894E-6" "02326" "LRBA_000118" "g.151789460G>T" "" "" "" "LRBA(NM_001199282.2):c.2450-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677210" "0" "50" "4" "151829906" "151829906" "subst" "0" "02325" "LRBA_000119" "g.151829906T>C" "" "" "" "LRBA(NM_001199282.2):c.1265A>G (p.N422S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689239" "0" "50" "4" "151392779" "151392779" "subst" "3.05816E-5" "02327" "LRBA_000120" "g.151392779C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689240" "0" "50" "4" "151504620" "151504620" "subst" "0" "02325" "LRBA_000121" "g.151504620G>T" "" "" "" "LRBA(NM_006726.4):c.6363+4580C>A, MAB21L2(NM_006439.5):c.439G>T (p.(Asp147Tyr), p.D147Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689241" "0" "30" "4" "151520169" "151520169" "subst" "0.000475641" "02326" "LRBA_000122" "g.151520169G>A" "" "" "" "LRBA(NM_001199282.2):c.6036C>T (p.A2012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689242" "0" "30" "4" "151789351" "151789351" "subst" "0.00013037" "02326" "LRBA_000123" "g.151789351G>A" "" "" "" "LRBA(NM_001199282.2):c.2556C>T (p.N852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719770" "0" "10" "4" "151199080" "151199080" "subst" "0.201207" "02327" "LRBA_000124" "g.151199080G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719771" "0" "10" "4" "151207127" "151207127" "subst" "0.20913" "02327" "LRBA_000125" "g.151207127C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719772" "0" "50" "4" "151271148" "151271148" "subst" "2.84898E-5" "01943" "LRBA_000126" "g.151271148C>T" "" "" "" "LRBA(NM_001367550.1):c.7358G>A (p.R2453K), LRBA(NM_006726.4):c.7391G>A (p.R2464K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719773" "0" "50" "4" "151504749" "151504749" "subst" "0" "02325" "LRBA_000127" "g.151504749C>A" "" "" "" "MAB21L2(NM_006439.5):c.568C>A (p.P190T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719774" "0" "50" "4" "151749473" "151749473" "subst" "0.00109705" "01943" "LRBA_000079" "g.151749473T>C" "" "" "" "LRBA(NM_006726.4):c.5030A>G (p.N1677S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719775" "0" "50" "4" "151749596" "151749596" "subst" "0" "02325" "LRBA_000128" "g.151749596G>C" "" "" "" "LRBA(NM_006726.4):c.4907C>G (p.A1636G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719776" "0" "50" "4" "151770608" "151770608" "subst" "0" "01943" "LRBA_000084" "g.151770608A>C" "" "" "" "LRBA(NM_001367550.1):c.4124T>G (p.I1375R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719777" "0" "30" "4" "151773600" "151773600" "subst" "0.00017105" "01943" "LRBA_000129" "g.151773600C>G" "" "" "" "LRBA(NM_001199282.2):c.3262G>C (p.E1088Q), LRBA(NM_001364905.1):c.3262G>C (p.(Glu1088Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719778" "0" "50" "4" "151821354" "151821354" "subst" "0.000216882" "01943" "LRBA_000130" "g.151821354A>G" "" "" "" "LRBA(NM_001367550.1):c.1771T>C (p.Y591H), LRBA(NM_006726.4):c.1771T>C (p.Y591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719779" "0" "50" "4" "151837607" "151837607" "subst" "0" "01943" "LRBA_000131" "g.151837607C>G" "" "" "" "LRBA(NM_006726.4):c.840G>C (p.K280N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734043" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734139" "0" "70" "4" "151203748" "151203748" "subst" "4.06322E-6" "04011" "LRBA_000132" "g.151203748C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734193" "0" "70" "4" "151356766" "151356766" "subst" "0.000913451" "04011" "LRBA_000133" "g.151356766C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734292" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734327" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734541" "0" "70" "4" "151356766" "151356766" "subst" "0.000913451" "04011" "LRBA_000133" "g.151356766C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734637" "0" "70" "4" "151935622" "151935622" "subst" "4.87389E-5" "04011" "LRBA_000140" "g.151935622C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735007" "0" "70" "4" "151356766" "151356766" "subst" "0.000913451" "04011" "LRBA_000133" "g.151356766C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735046" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735051" "0" "70" "4" "151827141" "151827141" "subst" "2.86376E-5" "04011" "LRBA_000138" "g.151827141G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735083" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735097" "0" "70" "4" "151770055" "151770055" "subst" "0" "04011" "LRBA_000135" "g.151770055T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735118" "0" "70" "4" "151773084" "151773084" "subst" "1.62825E-5" "04011" "LRBA_000136" "g.151773084C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735148" "0" "70" "4" "151850172" "151850172" "subst" "0.000106144" "04011" "LRBA_000139" "g.151850172C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735255" "0" "70" "4" "151827481" "151827481" "subst" "0.000231951" "04011" "LRBA_000134" "g.151827481C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735432" "0" "70" "4" "151791690" "151791690" "subst" "8.15767E-6" "04011" "LRBA_000137" "g.151791690C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735465" "0" "70" "4" "151356766" "151356766" "subst" "0.000913451" "04011" "LRBA_000133" "g.151356766C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000801524" "0" "50" "4" "151186906" "151186906" "subst" "7.37439E-5" "02325" "LRBA_000056" "g.151186906G>A" "" "" "" "LRBA(NM_001364905.1):c.8527C>T (p.(Arg2843Trp)), LRBA(NM_006726.4):c.8560C>T (p.R2854W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801525" "0" "50" "4" "151199012" "151199012" "subst" "2.03358E-5" "01943" "LRBA_000141" "g.151199012C>T" "" "" "" "LRBA(NM_001367550.1):c.8476G>A (p.D2826N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801526" "0" "50" "4" "151729487" "151729487" "subst" "4.07302E-5" "01943" "LRBA_000142" "g.151729487G>A" "" "" "" "LRBA(NM_001367550.1):c.5369C>T (p.P1790L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801527" "0" "10" "4" "151749312" "151749312" "subst" "0.00763482" "02327" "LRBA_000143" "g.151749312C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801528" "0" "30" "4" "151773294" "151773294" "subst" "0.00337665" "02326" "LRBA_000144" "g.151773294T>C" "" "" "" "LRBA(NM_006726.4):c.3568A>G (p.M1190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801529" "0" "30" "4" "151773850" "151773850" "subst" "5.29614E-5" "01943" "LRBA_000145" "g.151773850T>C" "" "" "" "LRBA(NM_001367550.1):c.3012A>G (p.A1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801530" "0" "10" "4" "151793903" "151793903" "subst" "0.0213161" "02327" "LRBA_000033" "g.151793903T>C" "" "" "" "LRBA(NM_001199282.2):c.2170A>G (p.I724V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801531" "0" "50" "4" "151821354" "151821354" "subst" "0.000216882" "02325" "LRBA_000130" "g.151821354A>G" "" "" "" "LRBA(NM_001367550.1):c.1771T>C (p.Y591H), LRBA(NM_006726.4):c.1771T>C (p.Y591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801532" "0" "50" "4" "151837607" "151837607" "subst" "0" "02327" "LRBA_000131" "g.151837607C>G" "" "" "" "LRBA(NM_006726.4):c.840G>C (p.K280N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801533" "0" "30" "4" "151849662" "151849662" "subst" "4.1293E-5" "01943" "LRBA_000146" "g.151849662T>G" "" "" "" "LRBA(NM_006726.4):c.549+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850535" "0" "50" "4" "151199090" "151199090" "subst" "4.06474E-6" "01943" "LRBA_000147" "g.151199090G>A" "" "" "" "LRBA(NM_001367550.1):c.8398C>T (p.R2800W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850536" "0" "50" "4" "151392869" "151392869" "subst" "1.67438E-5" "01943" "LRBA_000150" "g.151392869G>A" "" "" "" "LRBA(NM_001367550.1):c.6574C>T (p.R2192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850537" "0" "30" "4" "151793808" "151793808" "subst" "0" "01943" "LRBA_000155" "g.151793808T>C" "" "" "" "LRBA(NM_001367550.1):c.2258+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850538" "0" "30" "4" "151850059" "151850059" "subst" "2.43986E-5" "01943" "LRBA_000159" "g.151850059A>T" "" "" "" "LRBA(NM_001367550.1):c.375T>A (p.L125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859251" "0" "50" "4" "151357910" "151357910" "subst" "0.000883982" "02329" "LRBA_000148" "g.151357910G>T" "" "" "" "LRBA(NM_001367550.1):c.6887C>A (p.T2296N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859252" "0" "50" "4" "151357970" "151357970" "subst" "0.000138336" "01943" "LRBA_000149" "g.151357970C>T" "" "" "" "LRBA(NM_006726.4):c.6860G>A (p.R2287H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859253" "0" "30" "4" "151412192" "151412192" "subst" "1.30272E-5" "01943" "LRBA_000151" "g.151412192T>C" "" "" "" "LRBA(NM_006726.4):c.6364-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859254" "0" "10" "4" "151719263" "151719263" "subst" "0.183965" "02327" "LRBA_000152" "g.151719263A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859255" "0" "50" "4" "151749354" "151749354" "subst" "0.00019537" "01943" "LRBA_000153" "g.151749354C>T" "" "" "" "LRBA(NM_006726.4):c.5149G>A (p.V1717M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859256" "0" "50" "4" "151791687" "151791687" "subst" "0" "01943" "LRBA_000154" "g.151791687T>C" "" "" "" "LRBA(NM_006726.4):c.2439A>G (p.I813M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859257" "0" "90" "4" "151817586" "151817586" "dup" "0" "01943" "LRBA_000156" "g.151817586dup" "" "" "" "LRBA(NM_006726.4):c.2028dupA (p.L677Ifs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859258" "0" "50" "4" "151821210" "151821210" "subst" "1.22797E-5" "01943" "LRBA_000157" "g.151821210T>C" "" "" "" "LRBA(NM_001364905.1):c.1915A>G (p.K639E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859259" "0" "50" "4" "151821354" "151821354" "subst" "0.000216882" "02329" "LRBA_000130" "g.151821354A>G" "" "" "" "LRBA(NM_001367550.1):c.1771T>C (p.Y591H), LRBA(NM_006726.4):c.1771T>C (p.Y591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859260" "0" "70" "4" "151829484" "151829484" "subst" "0" "01943" "LRBA_000158" "g.151829484A>T" "" "" "" "LRBA(NM_001364905.1):c.1493+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886149" "0" "30" "4" "151604887" "151604887" "subst" "0" "02326" "LRBA_000160" "g.151604887A>G" "" "" "" "LRBA(NM_006726.4):c.5755-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886150" "0" "30" "4" "151753134" "151753134" "subst" "1.0438E-5" "02326" "LRBA_000161" "g.151753134A>T" "" "" "" "LRBA(NM_006726.4):c.4570-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886151" "0" "30" "4" "151770738" "151770738" "subst" "4.09984E-6" "02326" "LRBA_000162" "g.151770738A>G" "" "" "" "LRBA(NM_006726.4):c.4005-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886152" "0" "30" "4" "151772021" "151772021" "subst" "0.00292985" "02326" "LRBA_000163" "g.151772021T>C" "" "" "" "LRBA(NM_006726.4):c.3859A>G (p.I1287V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886153" "0" "30" "4" "151850237" "151850238" "dup" "0" "02326" "LRBA_000164" "g.151850237_151850238dup" "" "" "" "LRBA(NM_006726.4):c.217-11_217-10dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912065" "0" "30" "4" "151186882" "151186882" "subst" "0.00126382" "02326" "LRBA_000002" "g.151186882G>A" "" "" "" "LRBA(NM_001199282.2):c.8548C>T (p.R2850C), LRBA(NM_006726.4):c.8584C>T (p.R2862C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912067" "0" "30" "4" "151829570" "151829570" "subst" "4.1389E-5" "02326" "LRBA_000166" "g.151829570A>G" "" "" "" "LRBA(NM_001364905.1):c.1409T>C (p.(Ile470Thr)), LRBA(NM_006726.4):c.1409T>C (p.I470T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924068" "0" "50" "4" "151504638" "151504638" "subst" "0.000248412" "02325" "LRBA_000101" "g.151504638G>A" "" "" "" "MAB21L2(NM_006439.4):c.457G>A (p.A153T), MAB21L2(NM_006439.5):c.457G>A (p.(Ala153Thr), p.A153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924069" "0" "50" "4" "151504839" "151504839" "subst" "0" "02325" "LRBA_000167" "g.151504839G>A" "" "" "" "MAB21L2(NM_006439.5):c.658G>A (p.G220S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924070" "0" "30" "4" "151772059" "151772059" "subst" "0.001198" "02326" "LRBA_000168" "g.151772059T>C" "" "" "" "LRBA(NM_006726.4):c.3826-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924071" "0" "30" "4" "151773363" "151773363" "subst" "0.000232024" "02326" "LRBA_000029" "g.151773363T>C" "" "" "" "LRBA(NM_001199282.2):c.3499A>G (p.T1167A), LRBA(NM_006726.4):c.3499A>G (p.T1167A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924072" "0" "30" "4" "151773512" "151773512" "subst" "0.00112237" "02326" "LRBA_000169" "g.151773512C>A" "" "" "" "LRBA(NM_006726.4):c.3350G>T (p.G1117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924073" "0" "30" "4" "151829593" "151829593" "subst" "1.69689E-5" "02326" "LRBA_000170" "g.151829593G>A" "" "" "" "LRBA(NM_006726.4):c.1386C>T (p.S462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924074" "0" "30" "4" "151849787" "151849787" "subst" "7.21893E-5" "02326" "LRBA_000171" "g.151849787G>A" "" "" "" "LRBA(NM_006726.4):c.449-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948271" "0" "30" "4" "151604686" "151604686" "subst" "8.97791E-5" "02326" "LRBA_000172" "g.151604686T>C" "" "" "" "LRBA(NM_006726.4):c.5921+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948272" "0" "30" "4" "151752962" "151752963" "del" "0" "02326" "LRBA_000173" "g.151752962_151752963del" "" "" "" "LRBA(NM_006726.4):c.4729+7_4729+8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963031" "0" "30" "4" "151850089" "151850089" "subst" "0" "02326" "LRBA_000176" "g.151850089T>G" "" "" "" "LRBA(NM_006726.4):c.345A>C (p.T115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971526" "21" "70" "4" "151837877" "151837877" "subst" "3.53193E-5" "04659" "LRBA_000175" "g.151837877G>C" "" "" "" "150916725C>G" "" "Germline" "yes" "" "0" "" "" "g.150916725G>C" "" "likely pathogenic" "ACMG" "0000971527" "11" "90" "4" "151836817" "151836817" "subst" "0" "04659" "LRBA_000174" "g.151836817A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.150915665A>T" "" "pathogenic" "ACMG" "0000976142" "0" "50" "4" "151727421" "151727421" "subst" "9.02621E-5" "01804" "LRBA_000177" "g.151727421A>G" "" "" "" "LRBA(NM_001364905.1):c.5518+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976143" "0" "70" "4" "151771912" "151771912" "subst" "0" "02326" "LRBA_000178" "g.151771912A>C" "" "" "" "LRBA(NM_006726.4):c.3968T>G (p.L1323*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976144" "0" "30" "4" "151773028" "151773028" "subst" "6.58501E-5" "01804" "LRBA_000179" "g.151773028T>C" "" "" "" "LRBA(NM_001364905.1):c.3825+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976145" "0" "50" "4" "151789371" "151789371" "subst" "4.06994E-6" "01804" "LRBA_000180" "g.151789371T>C" "" "" "" "LRBA(NM_001364905.1):c.2536A>G (p.(Met846Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976146" "0" "50" "4" "151829570" "151829570" "subst" "4.1389E-5" "01804" "LRBA_000166" "g.151829570A>G" "" "" "" "LRBA(NM_001364905.1):c.1409T>C (p.(Ile470Thr)), LRBA(NM_006726.4):c.1409T>C (p.I470T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985328" "3" "70" "4" "151774025" "151774028" "del" "0" "03544" "LRBA_000181" "g.151774025_151774028del" "" "" "" "" "identified also in the sister with the same phenotype (homozygous state)" "Germline" "yes" "rs777413769" "0" "" "" "g.150852873_150852876del" "{CV:1458881}" "pathogenic (recessive)" "ACMG" "0000988465" "0" "50" "4" "151223890" "151223890" "subst" "0" "04725" "LRBA_000182" "g.151223890C>T" "" "Claudia Minici 2024, submitted" "benetti.elisa" "" "" "Germline" "" "" "0" "" "" "g.150302738C>T" "" "VUS" "ACMG" "0000994109" "0" "30" "4" "151504774" "151504774" "subst" "8.17902E-6" "01804" "LRBA_000183" "g.151504774A>G" "" "" "" "MAB21L2(NM_006439.4):c.593A>G (p.(Asn198Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994110" "0" "50" "4" "151504788" "151504788" "subst" "1.63808E-5" "01804" "LRBA_000165" "g.151504788G>A" "" "" "" "MAB21L2(NM_006439.4):c.607G>A (p.(Val203Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994111" "0" "30" "4" "151773600" "151773600" "subst" "0.00017105" "01804" "LRBA_000129" "g.151773600C>G" "" "" "" "LRBA(NM_001199282.2):c.3262G>C (p.E1088Q), LRBA(NM_001364905.1):c.3262G>C (p.(Glu1088Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994112" "0" "50" "4" "151793833" "151793833" "subst" "0" "01804" "LRBA_000184" "g.151793833A>G" "" "" "" "LRBA(NM_001364905.1):c.2240T>C (p.(Leu747Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024894" "0" "50" "4" "151505251" "151505251" "subst" "0" "02327" "LRBA_000185" "g.151505251A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034365" "0" "50" "4" "151236769" "151236769" "subst" "1.87566E-5" "01804" "LRBA_000186" "g.151236769T>C" "" "" "" "LRBA(NM_001364905.1):c.7637A>G (p.(Gln2546Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034366" "0" "50" "4" "151242403" "151242403" "subst" "0.000167979" "01804" "LRBA_000187" "g.151242403C>T" "" "" "" "LRBA(NM_001364905.1):c.7570G>A (p.(Ala2524Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034367" "0" "50" "4" "151271250" "151271250" "subst" "1.26396E-5" "01804" "LRBA_000188" "g.151271250T>G" "" "" "" "LRBA(NM_001364905.1):c.7256A>C (p.(Tyr2419Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034368" "0" "50" "4" "151392821" "151392821" "subst" "4.1231E-6" "01804" "LRBA_000069" "g.151392821C>T" "" "" "" "LRBA(NM_001199282.2):c.6622G>A (p.E2208K), LRBA(NM_001364905.1):c.6622G>A (p.(Glu2208Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034369" "0" "30" "4" "151412066" "151412066" "subst" "0" "01804" "LRBA_000189" "g.151412066T>C" "" "" "" "LRBA(NM_001364905.1):c.6448+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034370" "0" "50" "4" "151504620" "151504620" "subst" "0" "01804" "LRBA_000121" "g.151504620G>T" "" "" "" "LRBA(NM_006726.4):c.6363+4580C>A, MAB21L2(NM_006439.5):c.439G>T (p.(Asp147Tyr), p.D147Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034371" "0" "50" "4" "151504638" "151504638" "subst" "0.000248412" "01804" "LRBA_000101" "g.151504638G>A" "" "" "" "MAB21L2(NM_006439.4):c.457G>A (p.A153T), MAB21L2(NM_006439.5):c.457G>A (p.(Ala153Thr), p.A153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034372" "0" "50" "4" "151520200" "151520200" "subst" "4.4722E-5" "01804" "LRBA_000190" "g.151520200G>C" "" "" "" "LRBA(NM_001364905.1):c.6005C>G (p.(Ser2002Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034373" "0" "30" "4" "151683013" "151683013" "del" "0" "01804" "LRBA_000020" "g.151683013del" "" "" "" "LRBA(NM_001199282.2):c.5581-5delT, LRBA(NM_001364905.1):c.5581-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034374" "0" "30" "4" "151729555" "151729555" "subst" "0" "01804" "LRBA_000191" "g.151729555A>G" "" "" "" "LRBA(NM_001364905.1):c.5306-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034375" "0" "50" "4" "151753004" "151753004" "subst" "2.10674E-5" "01804" "LRBA_000104" "g.151753004T>C" "" "" "" "LRBA(NM_001364905.1):c.4694A>G (p.(Glu1565Gly)), LRBA(NM_001367550.1):c.4694A>G (p.E1565G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034376" "0" "30" "4" "151835513" "151835513" "del" "0" "01804" "LRBA_000038" "g.151835513del" "" "" "" "LRBA(NM_001199282.2):c.1015-10delT, LRBA(NM_001364905.1):c.1015-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034377" "0" "50" "4" "151837665" "151837665" "subst" "4.49075E-5" "01804" "LRBA_000040" "g.151837665T>C" "" "" "" "LRBA(NM_001199282.2):c.782A>G (p.K261R), LRBA(NM_001364905.1):c.782A>G (p.(Lys261Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034378" "0" "50" "4" "151837794" "151837794" "subst" "4.29048E-6" "01804" "LRBA_000192" "g.151837794C>T" "" "" "" "LRBA(NM_001364905.1):c.742G>A (p.(Asp248Asn))" "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 LRBA ## Count = 443 "{{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}}" "0000004030" "00001596" "50" "217" "-34096" "217" "-34096" "c.217-34096T>G" "r.(=)" "p.(=)" "" "0000250705" "00001596" "10" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0000250705" "00025936" "10" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0000251309" "00001596" "10" "1015" "-5" "1015" "-5" "c.1015-5del" "r.spl?" "p.?" "" "0000251309" "00025936" "10" "1015" "-5" "1015" "-5" "c.1015-5del" "r.spl?" "p.?" "" "0000251781" "00001596" "30" "8058" "0" "8058" "0" "c.8058T>C" "r.(?)" "p.(Tyr2686=)" "" "0000251781" "00025936" "30" "8061" "0" "8061" "0" "c.8061T>C" "r.(?)" "p.(Tyr2687=)" "" "0000251782" "00001596" "30" "5241" "0" "5241" "0" "c.5241T>C" "r.(?)" "p.(Asn1747=)" "" "0000251782" "00025936" "30" "5241" "0" "5241" "0" "c.5241T>C" "r.(?)" "p.(Asn1747=)" "" "0000252084" "00001596" "30" "7195" "-5" "7195" "-5" "c.7195-5T>C" "r.spl?" "p.?" "" "0000252084" "00025936" "30" "7195" "-5" "7195" "-5" "c.7195-5T>C" "r.spl?" "p.?" "" "0000252085" "00001596" "30" "5581" "-5" "5581" "-5" "c.5581-5del" "r.spl?" "p.?" "" "0000252085" "00025936" "30" "5581" "-5" "5581" "-5" "c.5581-5del" "r.spl?" "p.?" "" "0000252086" "00001596" "30" "5581" "-6" "5581" "-6" "c.5581-6T>A" "r.(=)" "p.(=)" "" "0000252086" "00025936" "30" "5581" "-6" "5581" "-6" "c.5581-6T>A" "r.(=)" "p.(=)" "" "0000252087" "00001596" "30" "1015" "-11" "1015" "-11" "c.1015-11T>C" "r.(=)" "p.(=)" "" "0000252087" "00025936" "30" "1015" "-11" "1015" "-11" "c.1015-11T>C" "r.(=)" "p.(=)" "" "0000253057" "00001596" "10" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0000253057" "00025936" "10" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0000254307" "00001596" "30" "3684" "0" "3684" "0" "c.3684T>C" "r.(?)" "p.(Cys1228=)" "" "0000254307" "00025936" "30" "3684" "0" "3684" "0" "c.3684T>C" "r.(?)" "p.(Cys1228=)" "" "0000254543" "00001596" "30" "6330" "3974" "6330" "3974" "c.6330+3974T>C" "r.(=)" "p.(=)" "" "0000254543" "00025936" "30" "6330" "3974" "6330" "3974" "c.6330+3974T>C" "r.(=)" "p.(=)" "" "0000255943" "00001596" "50" "4591" "0" "4591" "0" "c.4591T>G" "r.(?)" "p.(Phe1531Val)" "" "0000255943" "00025936" "50" "4591" "0" "4591" "0" "c.4591T>G" "r.(?)" "p.(Phe1531Val)" "" "0000255958" "00001596" "50" "1573" "0" "1573" "0" "c.1573T>G" "r.(?)" "p.(Phe525Val)" "" "0000255958" "00025936" "50" "1573" "0" "1573" "0" "c.1573T>G" "r.(?)" "p.(Phe525Val)" "" "0000282281" "00001596" "10" "4569" "9" "4569" "9" "c.4569+9C>T" "r.(=)" "p.(=)" "" "0000282281" "00025936" "10" "4569" "9" "4569" "9" "c.4569+9C>T" "r.(=)" "p.(=)" "" "0000282282" "00001596" "10" "7849" "10" "7849" "10" "c.7849+10A>G" "r.(=)" "p.(=)" "" "0000282282" "00025936" "10" "7849" "10" "7849" "10" "c.7849+10A>G" "r.(=)" "p.(=)" "" "0000286031" "00001596" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Gly38=)" "" "0000286031" "00025936" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Gly38=)" "" "0000286032" "00001596" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Val57Ile)" "" "0000286032" "00025936" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Val57Ile)" "" "0000286033" "00001596" "10" "217" "-10" "217" "-10" "c.217-10dup" "r.(=)" "p.(=)" "" "0000286033" "00025936" "10" "217" "-10" "217" "-10" "c.217-10dup" "r.(=)" "p.(=)" "" "0000286034" "00001596" "30" "217" "-9" "217" "-9" "c.217-9C>T" "r.(=)" "p.(=)" "" "0000286034" "00025936" "30" "217" "-9" "217" "-9" "c.217-9C>T" "r.(=)" "p.(=)" "" "0000286035" "00001596" "30" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ile724Val)" "" "0000286035" "00025936" "30" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ile724Val)" "" "0000286036" "00001596" "30" "3826" "-14" "3826" "-14" "c.3826-14A>C" "r.(=)" "p.(=)" "" "0000286036" "00025936" "30" "3826" "-14" "3826" "-14" "c.3826-14A>C" "r.(=)" "p.(=)" "" "0000286037" "00001596" "10" "3948" "0" "3948" "0" "c.3948A>G" "r.(?)" "p.(Gln1316=)" "" "0000286037" "00025936" "10" "3948" "0" "3948" "0" "c.3948A>G" "r.(?)" "p.(Gln1316=)" "" "0000286038" "00001596" "10" "6448" "21" "6448" "21" "c.6448+21G>A" "r.(=)" "p.(=)" "" "0000286038" "00025936" "10" "6448" "21" "6448" "21" "c.6448+21G>A" "r.(=)" "p.(=)" "" "0000286039" "00001596" "30" "7564" "0" "7564" "0" "c.7564A>C" "r.(?)" "p.(Thr2522Pro)" "" "0000286039" "00025936" "30" "7564" "0" "7564" "0" "c.7564A>C" "r.(?)" "p.(Thr2522Pro)" "" "0000286040" "00001596" "30" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Lys261Arg)" "" "0000286040" "00025936" "30" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Lys261Arg)" "" "0000286041" "00001596" "10" "8103" "0" "8103" "0" "c.8103G>C" "r.(?)" "p.(Leu2701Phe)" "" "0000286041" "00025936" "10" "8106" "0" "8106" "0" "c.8106G>C" "r.(?)" "p.(Leu2702Phe)" "" "0000291087" "00001596" "30" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(His571=)" "" "0000291087" "00025936" "30" "1713" "0" "1713" "0" "c.1713C>T" "r.(?)" "p.(His571=)" "" "0000291088" "00001596" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Gly600Asp)" "" "0000291088" "00025936" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Gly600Asp)" "" "0000291090" "00001596" "30" "2340" "0" "2340" "0" "c.2340A>G" "r.(?)" "p.(Thr780=)" "" "0000291090" "00025936" "30" "2340" "0" "2340" "0" "c.2340A>G" "r.(?)" "p.(Thr780=)" "" "0000291091" "00001596" "50" "2674" "0" "2674" "0" "c.2674G>A" "r.(?)" "p.(Ala892Thr)" "" "0000291091" "00025936" "50" "2674" "0" "2674" "0" "c.2674G>A" "r.(?)" "p.(Ala892Thr)" "" "0000291092" "00001596" "30" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Thr976Met)" "" "0000291092" "00025936" "30" "2927" "0" "2927" "0" "c.2927C>T" "r.(?)" "p.(Thr976Met)" "" "0000291093" "00001596" "30" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Thr1167Ala)" "" "0000291093" "00025936" "30" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Thr1167Ala)" "" "0000291094" "00001596" "10" "3689" "0" "3689" "0" "c.3689G>A" "r.(?)" "p.(Gly1230Asp)" "" "0000291094" "00025936" "10" "3689" "0" "3689" "0" "c.3689G>A" "r.(?)" "p.(Gly1230Asp)" "" "0000291095" "00001596" "30" "3948" "0" "3948" "0" "c.3948A>G" "r.(?)" "p.(Gln1316=)" "" "0000291095" "00025936" "30" "3948" "0" "3948" "0" "c.3948A>G" "r.(?)" "p.(Gln1316=)" "" "0000291096" "00001596" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000291096" "00025936" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Gly18Arg)" "" "0000291097" "00001596" "30" "6163" "0" "6163" "0" "c.6163G>A" "r.(?)" "p.(Val2055Met)" "" "0000291097" "00025936" "30" "6163" "0" "6163" "0" "c.6163G>A" "r.(?)" "p.(Val2055Met)" "" "0000291098" "00001596" "30" "7801" "0" "7801" "0" "c.7801G>A" "r.(?)" "p.(Val2601Ile)" "" "0000291098" "00025936" "30" "7801" "0" "7801" "0" "c.7801G>A" "r.(?)" "p.(Val2601Ile)" "" "0000291099" "00001596" "50" "7840" "0" "7840" "0" "c.7840A>G" "r.(?)" "p.(Thr2614Ala)" "" "0000291099" "00025936" "50" "7840" "0" "7840" "0" "c.7840A>G" "r.(?)" "p.(Thr2614Ala)" "" "0000291100" "00001596" "50" "8315" "0" "8315" "0" "c.8315C>T" "r.(?)" "p.(Ala2772Val)" "" "0000291100" "00025936" "50" "8318" "0" "8318" "0" "c.8318C>T" "r.(?)" "p.(Ala2773Val)" "" "0000291101" "00001596" "30" "8400" "0" "8400" "0" "c.8400G>C" "r.(?)" "p.(Lys2800Asn)" "" "0000291101" "00025936" "30" "8403" "0" "8403" "0" "c.8403G>C" "r.(?)" "p.(Lys2801Asn)" "" "0000291102" "00001596" "50" "8548" "0" "8548" "0" "c.8548C>T" "r.(?)" "p.(Arg2850Cys)" "" "0000291102" "00025936" "50" "8551" "0" "8551" "0" "c.8551C>T" "r.(?)" "p.(Arg2851Cys)" "" "0000291302" "00001596" "30" "6330" "4901" "6330" "4901" "c.6330+4901C>G" "r.(=)" "p.(=)" "" "0000291302" "00025936" "30" "6330" "4901" "6330" "4901" "c.6330+4901C>G" "r.(=)" "p.(=)" "" "0000291303" "00001596" "30" "6330" "4734" "6330" "4734" "c.6330+4734G>A" "r.(=)" "p.(=)" "" "0000291303" "00025936" "30" "6330" "4734" "6330" "4734" "c.6330+4734G>A" "r.(=)" "p.(=)" "" "0000291304" "00001596" "50" "6330" "4729" "6330" "4729" "c.6330+4729C>T" "r.(=)" "p.(=)" "" "0000291304" "00025936" "50" "6330" "4729" "6330" "4729" "c.6330+4729C>T" "r.(=)" "p.(=)" "" "0000291305" "00001596" "50" "6330" "4666" "6330" "4666" "c.6330+4666G>T" "r.(=)" "p.(=)" "" "0000291305" "00025936" "50" "6330" "4666" "6330" "4666" "c.6330+4666G>T" "r.(=)" "p.(=)" "" "0000291306" "00001596" "50" "6330" "4954" "6330" "4954" "c.6330+4954G>T" "r.(=)" "p.(=)" "" "0000291306" "00025936" "50" "6330" "4954" "6330" "4954" "c.6330+4954G>T" "r.(=)" "p.(=)" "" "0000291307" "00001596" "30" "6330" "4065" "6330" "4065" "c.6330+4065G>A" "r.(=)" "p.(=)" "" "0000291307" "00025936" "30" "6330" "4065" "6330" "4065" "c.6330+4065G>A" "r.(=)" "p.(=)" "" "0000337246" "00001596" "10" "7849" "10" "7849" "10" "c.7849+10A>G" "r.(=)" "p.(=)" "" "0000337246" "00025936" "10" "7849" "10" "7849" "10" "c.7849+10A>G" "r.(=)" "p.(=)" "" "0000337247" "00001596" "10" "4569" "9" "4569" "9" "c.4569+9C>T" "r.(=)" "p.(=)" "" "0000337247" "00025936" "10" "4569" "9" "4569" "9" "c.4569+9C>T" "r.(=)" "p.(=)" "" "0000339472" "00001596" "10" "1347" "0" "1347" "0" "c.1347A>G" "r.(?)" "p.(Ala449=)" "" "0000339472" "00025936" "10" "1347" "0" "1347" "0" "c.1347A>G" "r.(?)" "p.(Ala449=)" "" "0000340854" "00001596" "10" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Leu382=)" "" "0000340854" "00025936" "10" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Leu382=)" "" "0000340876" "00001596" "50" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000340876" "00025936" "50" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000341114" "00001596" "10" "3269" "0" "3269" "0" "c.3269C>G" "r.(?)" "p.(Ala1090Gly)" "" "0000341114" "00025936" "10" "3269" "0" "3269" "0" "c.3269C>G" "r.(?)" "p.(Ala1090Gly)" "" "0000342184" "00001596" "30" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000342184" "00025936" "30" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000345936" "00001596" "50" "8107" "0" "8107" "0" "c.8107G>A" "r.(?)" "p.(Gly2703Ser)" "" "0000345936" "00025936" "50" "8110" "0" "8110" "0" "c.8110G>A" "r.(?)" "p.(Gly2704Ser)" "" "0000346015" "00001596" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Asp)" "" "0000346015" "00025936" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Asp)" "" "0000521770" "00001596" "30" "8565" "0" "8565" "0" "c.*9G>T" "r.(=)" "p.(=)" "" "0000521770" "00025936" "30" "8568" "0" "8568" "0" "c.*9G>T" "r.(=)" "p.(=)" "" "0000521771" "00001596" "50" "8524" "0" "8524" "0" "c.8524C>T" "r.(?)" "p.(Arg2842Trp)" "" "0000521771" "00025936" "50" "8527" "0" "8527" "0" "c.8527C>T" "r.(?)" "p.(Arg2843Trp)" "" "0000521772" "00001596" "30" "8457" "0" "8457" "0" "c.8457C>T" "r.(?)" "p.(Tyr2819=)" "" "0000521772" "00025936" "30" "8460" "0" "8460" "0" "c.8460C>T" "r.(?)" "p.(Tyr2820=)" "" "0000521773" "00001596" "10" "8085" "0" "8085" "0" "c.8085G>A" "r.(?)" "p.(Ala2695=)" "" "0000521773" "00025936" "10" "8088" "0" "8088" "0" "c.8088G>A" "r.(?)" "p.(Ala2696=)" "" "0000521774" "00001596" "30" "8046" "0" "8046" "0" "c.8046C>T" "r.(?)" "p.(Thr2682=)" "" "0000521774" "00025936" "30" "8049" "0" "8049" "0" "c.8049C>T" "r.(?)" "p.(Thr2683=)" "" "0000521775" "00001596" "30" "8029" "0" "8029" "0" "c.8029C>T" "r.(?)" "p.(Pro2677Ser)" "" "0000521775" "00025936" "30" "8032" "0" "8032" "0" "c.8032C>T" "r.(?)" "p.(Pro2678Ser)" "" "0000521776" "00001596" "30" "8021" "0" "8021" "0" "c.8021C>T" "r.(?)" "p.(Thr2674Ile)" "" "0000521776" "00025936" "30" "8024" "0" "8024" "0" "c.8024C>T" "r.(?)" "p.(Thr2675Ile)" "" "0000521777" "00001596" "30" "7693" "20" "7693" "20" "c.7693+20C>T" "r.(=)" "p.(=)" "" "0000521777" "00025936" "30" "7693" "20" "7693" "20" "c.7693+20C>T" "r.(=)" "p.(=)" "" "0000521778" "00001596" "30" "7551" "0" "7551" "0" "c.7551G>A" "r.(?)" "p.(Gln2517=)" "" "0000521778" "00025936" "30" "7551" "0" "7551" "0" "c.7551G>A" "r.(?)" "p.(Gln2517=)" "" "0000521780" "00001596" "50" "7019" "0" "7019" "0" "c.7019A>G" "r.(?)" "p.(Gln2340Arg)" "" "0000521780" "00025936" "50" "7019" "0" "7019" "0" "c.7019A>G" "r.(?)" "p.(Gln2340Arg)" "" "0000521781" "00001596" "50" "7019" "0" "7019" "0" "c.7019A>G" "r.(?)" "p.(Gln2340Arg)" "" "0000521781" "00025936" "50" "7019" "0" "7019" "0" "c.7019A>G" "r.(?)" "p.(Gln2340Arg)" "" "0000521782" "00001596" "50" "6921" "0" "6921" "0" "c.6921A>G" "r.(?)" "p.(Ile2307Met)" "" "0000521782" "00025936" "50" "6921" "0" "6921" "0" "c.6921A>G" "r.(?)" "p.(Ile2307Met)" "" "0000521784" "00001596" "30" "6781" "-7" "6781" "-7" "c.6781-7T>C" "r.(=)" "p.(=)" "" "0000521784" "00025936" "30" "6781" "-7" "6781" "-7" "c.6781-7T>C" "r.(=)" "p.(=)" "" "0000521785" "00001596" "50" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Glu2208Lys)" "" "0000521785" "00025936" "50" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Glu2208Lys)" "" "0000521786" "00001596" "30" "6526" "0" "6526" "0" "c.6526A>G" "r.(?)" "p.(Thr2176Ala)" "" "0000521786" "00025936" "30" "6526" "0" "6526" "0" "c.6526A>G" "r.(?)" "p.(Thr2176Ala)" "" "0000521787" "00001596" "30" "6448" "17" "6448" "17" "c.6448+17A>G" "r.(=)" "p.(=)" "" "0000521787" "00025936" "30" "6448" "17" "6448" "17" "c.6448+17A>G" "r.(=)" "p.(=)" "" "0000521788" "00001596" "50" "6332" "0" "6332" "0" "c.6332T>G" "r.(?)" "p.(Ile2111Ser)" "" "0000521788" "00025936" "50" "6332" "0" "6332" "0" "c.6332T>G" "r.(?)" "p.(Ile2111Ser)" "" "0000521789" "00001596" "70" "6330" "4867" "6330" "4867" "c.6330+4867C>T" "r.(=)" "p.(=)" "" "0000521789" "00025936" "70" "6330" "4867" "6330" "4867" "c.6330+4867C>T" "r.(=)" "p.(=)" "" "0000521791" "00001596" "30" "6049" "0" "6049" "0" "c.6049A>C" "r.(?)" "p.(Thr2017Pro)" "" "0000521791" "00025936" "30" "6049" "0" "6049" "0" "c.6049A>C" "r.(?)" "p.(Thr2017Pro)" "" "0000521792" "00001596" "30" "6046" "1924" "6046" "1924" "c.6046+1924G>T" "r.(=)" "p.(=)" "" "0000521792" "00025936" "30" "6046" "1924" "6046" "1924" "c.6046+1924G>T" "r.(=)" "p.(=)" "" "0000521793" "00001596" "30" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000521793" "00025936" "30" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000521794" "00001596" "10" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000521794" "00025936" "10" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000521795" "00001596" "50" "5942" "0" "5942" "0" "c.5942G>A" "r.(?)" "p.(Arg1981His)" "" "0000521795" "00025936" "50" "5942" "0" "5942" "0" "c.5942G>A" "r.(?)" "p.(Arg1981His)" "" "0000521796" "00001596" "50" "5744" "0" "5744" "0" "c.5744C>T" "r.(?)" "p.(Ala1915Val)" "" "0000521796" "00025936" "50" "5744" "0" "5744" "0" "c.5744C>T" "r.(?)" "p.(Ala1915Val)" "" "0000521798" "00001596" "10" "4713" "0" "4713" "0" "c.4713G>A" "r.(?)" "p.(Glu1571=)" "" "0000521798" "00025936" "10" "4713" "0" "4713" "0" "c.4713G>A" "r.(?)" "p.(Glu1571=)" "" "0000521800" "00001596" "30" "4377" "0" "4377" "0" "c.4377A>G" "r.(?)" "p.(Gln1459=)" "" "0000521800" "00025936" "30" "4377" "0" "4377" "0" "c.4377A>G" "r.(?)" "p.(Gln1459=)" "" "0000521801" "00001596" "30" "4339" "18" "4339" "18" "c.4339+18G>A" "r.(=)" "p.(=)" "" "0000521801" "00025936" "30" "4339" "18" "4339" "18" "c.4339+18G>A" "r.(=)" "p.(=)" "" "0000521803" "00001596" "10" "3269" "0" "3269" "0" "c.3269C>G" "r.(?)" "p.(Ala1090Gly)" "" "0000521803" "00025936" "10" "3269" "0" "3269" "0" "c.3269C>G" "r.(?)" "p.(Ala1090Gly)" "" "0000521804" "00001596" "50" "3244" "0" "3244" "0" "c.3244A>G" "r.(?)" "p.(Ile1082Val)" "" "0000521804" "00025936" "50" "3244" "0" "3244" "0" "c.3244A>G" "r.(?)" "p.(Ile1082Val)" "" "0000521805" "00001596" "30" "3009" "0" "3009" "0" "c.3009T>A" "r.(?)" "p.(Ser1003=)" "" "0000521805" "00025936" "30" "3009" "0" "3009" "0" "c.3009T>A" "r.(?)" "p.(Ser1003=)" "" "0000521806" "00001596" "30" "3007" "0" "3007" "0" "c.3007T>C" "r.(?)" "p.(Ser1003Pro)" "" "0000521806" "00025936" "30" "3007" "0" "3007" "0" "c.3007T>C" "r.(?)" "p.(Ser1003Pro)" "" "0000521807" "00001596" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884Ter)" "" "0000521807" "00025936" "90" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884Ter)" "" "0000521808" "00001596" "30" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000521808" "00025936" "30" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000521809" "00001596" "30" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000521809" "00025936" "30" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Lys879=)" "" "0000521810" "00001596" "30" "2468" "0" "2468" "0" "c.2468C>T" "r.(?)" "p.(Ala823Val)" "" "0000521810" "00025936" "30" "2468" "0" "2468" "0" "c.2468C>T" "r.(?)" "p.(Ala823Val)" "" "0000521811" "00001596" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521811" "00025936" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521812" "00001596" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521812" "00025936" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521813" "00001596" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521813" "00025936" "30" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000521814" "00001596" "30" "2340" "0" "2340" "0" "c.2340A>G" "r.(?)" "p.(Thr780=)" "" "0000521814" "00025936" "30" "2340" "0" "2340" "0" "c.2340A>G" "r.(?)" "p.(Thr780=)" "" "0000521816" "00001596" "10" "1689" "0" "1689" "0" "c.1689C>A" "r.(?)" "p.(Pro563=)" "" "0000521816" "00025936" "10" "1689" "0" "1689" "0" "c.1689C>A" "r.(?)" "p.(Pro563=)" "" "0000521817" "00001596" "10" "1603" "-4" "1603" "-4" "c.1603-4G>T" "r.spl?" "p.?" "" "0000521817" "00025936" "10" "1603" "-4" "1603" "-4" "c.1603-4G>T" "r.spl?" "p.?" "" "0000521818" "00001596" "10" "1513" "0" "1513" "0" "c.1513A>G" "r.(?)" "p.(Ile505Val)" "" "0000521818" "00025936" "10" "1513" "0" "1513" "0" "c.1513A>G" "r.(?)" "p.(Ile505Val)" "" "0000521820" "00001596" "50" "1436" "0" "1436" "0" "c.1436T>G" "r.(?)" "p.(Leu479Arg)" "" "0000521820" "00025936" "50" "1436" "0" "1436" "0" "c.1436T>G" "r.(?)" "p.(Leu479Arg)" "" "0000521821" "00001596" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000521821" "00025936" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000521822" "00001596" "50" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000521822" "00025936" "50" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000521823" "00001596" "10" "1015" "-10" "1015" "-10" "c.1015-10dup" "r.(=)" "p.(=)" "" "0000521823" "00025936" "10" "1015" "-10" "1015" "-10" "c.1015-10dup" "r.(=)" "p.(=)" "" "0000521824" "00001596" "30" "1015" "-10" "1015" "-10" "c.1015-10dup" "r.(=)" "p.(=)" "" "0000521824" "00025936" "30" "1015" "-10" "1015" "-10" "c.1015-10dup" "r.(=)" "p.(=)" "" "0000521826" "00001596" "30" "717" "0" "717" "0" "c.717G>T" "r.(?)" "p.(Met239Ile)" "" "0000521826" "00025936" "30" "717" "0" "717" "0" "c.717G>T" "r.(?)" "p.(Met239Ile)" "" "0000521827" "00001596" "10" "217" "-10" "217" "-10" "c.217-10dup" "r.(=)" "p.(=)" "" "0000521827" "00025936" "10" "217" "-10" "217" "-10" "c.217-10dup" "r.(=)" "p.(=)" "" "0000521828" "00001596" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Gly38=)" "" "0000521828" "00025936" "30" "114" "0" "114" "0" "c.114G>T" "r.(?)" "p.(Gly38=)" "" "0000609086" "00001596" "30" "6330" "4065" "6330" "4065" "c.6330+4065G>A" "r.(=)" "p.(=)" "" "0000609086" "00025936" "30" "6330" "4065" "6330" "4065" "c.6330+4065G>A" "r.(=)" "p.(=)" "" "0000609087" "00001596" "30" "3009" "0" "3009" "0" "c.3009T>A" "r.(?)" "p.(Ser1003=)" "" "0000609087" "00025936" "30" "3009" "0" "3009" "0" "c.3009T>A" "r.(?)" "p.(Ser1003=)" "" "0000609088" "00001596" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000609088" "00025936" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000609089" "00001596" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000609089" "00025936" "30" "1399" "0" "1399" "0" "c.1399A>G" "r.(?)" "p.(Met467Val)" "" "0000609090" "00001596" "70" "448" "1" "448" "1" "c.448+1G>A" "r.spl?" "p.?" "" "0000609090" "00025936" "70" "448" "1" "448" "1" "c.448+1G>A" "r.spl?" "p.?" "" "0000621362" "00001596" "30" "8244" "0" "8244" "0" "c.8244C>T" "r.(?)" "p.(Asn2748=)" "" "0000621362" "00025936" "30" "8247" "0" "8247" "0" "c.8247C>T" "r.(?)" "p.(Asn2749=)" "" "0000621363" "00001596" "30" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0000621363" "00025936" "30" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0000621364" "00001596" "30" "5385" "-3" "5385" "-3" "c.5385-3T>C" "r.spl?" "p.?" "" "0000621364" "00025936" "30" "5385" "-3" "5385" "-3" "c.5385-3T>C" "r.spl?" "p.?" "" "0000621365" "00001596" "30" "4729" "18" "4729" "18" "c.4729+18A>G" "r.(=)" "p.(=)" "" "0000621365" "00025936" "30" "4729" "18" "4729" "18" "c.4729+18A>G" "r.(=)" "p.(=)" "" "0000621366" "00001596" "30" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Glu1565Gly)" "" "0000621366" "00025936" "30" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Glu1565Gly)" "" "0000651408" "00001596" "50" "8437" "0" "8437" "0" "c.8437C>T" "r.(?)" "p.(Arg2813Trp)" "" "0000651409" "00001596" "50" "6662" "0" "6662" "0" "c.6662T>C" "r.(?)" "p.(Ile2221Thr)" "" "0000651410" "00001596" "50" "6322" "0" "6322" "0" "c.6322G>A" "r.(?)" "p.(Asp2108Asn)" "" "0000651411" "00001596" "30" "5989" "0" "5989" "0" "c.5989C>T" "r.(?)" "p.(Arg1997Cys)" "" "0000651412" "00001596" "10" "4485" "0" "4485" "0" "c.4485C>T" "r.(=)" "p.(=)" "" "0000651413" "00001596" "50" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Asn815Ser)" "" "0000651414" "00001596" "50" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Val737Ile)" "" "0000651415" "00001596" "10" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ile724Val)" "" "0000655104" "00001596" "50" "8548" "0" "8548" "0" "c.8548C>T" "r.(?)" "p.(Arg2850Cys)" "" "0000655104" "00025936" "50" "8551" "0" "8551" "0" "c.8551C>T" "r.(?)" "p.(Arg2851Cys)" "" "0000655105" "00001596" "30" "5755" "-10" "5755" "-10" "c.5755-10del" "r.(=)" "p.(=)" "" "0000655105" "00025936" "30" "5755" "-10" "5755" "-10" "c.5755-10del" "r.(=)" "p.(=)" "" "0000655106" "00001596" "50" "1573" "0" "1573" "0" "c.1573T>G" "r.(?)" "p.(Phe525Val)" "" "0000655106" "00025936" "50" "1573" "0" "1573" "0" "c.1573T>G" "r.(?)" "p.(Phe525Val)" "" "0000655107" "00001596" "30" "768" "-3" "768" "-3" "c.768-3T>C" "r.spl?" "p.?" "" "0000655107" "00025936" "30" "768" "-3" "768" "-3" "c.768-3T>C" "r.spl?" "p.?" "" "0000655108" "00001596" "50" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" "" "0000655108" "00025936" "50" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Gly76Arg)" "" "0000669802" "00001596" "10" "4485" "0" "4485" "0" "c.4485C>T" "r.(=)" "p.(=)" "" "0000677205" "00001596" "50" "5258" "0" "5258" "0" "c.5258C>T" "r.(?)" "p.(Ser1753Phe)" "" "0000677205" "00025936" "50" "5258" "0" "5258" "0" "c.5258C>T" "r.(?)" "p.(Ser1753Phe)" "" "0000677206" "00001596" "30" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Ala1582Thr)" "" "0000677206" "00025936" "30" "4744" "0" "4744" "0" "c.4744G>A" "r.(?)" "p.(Ala1582Thr)" "" "0000677207" "00001596" "30" "4323" "0" "4323" "0" "c.4323G>T" "r.(?)" "p.(Arg1441=)" "" "0000677207" "00025936" "30" "4323" "0" "4323" "0" "c.4323G>T" "r.(?)" "p.(Arg1441=)" "" "0000677208" "00001596" "30" "2688" "0" "2688" "0" "c.2688C>A" "r.(?)" "p.(Ile896=)" "" "0000677208" "00025936" "30" "2688" "0" "2688" "0" "c.2688C>A" "r.(?)" "p.(Ile896=)" "" "0000677209" "00001596" "70" "2450" "-3" "2450" "-3" "c.2450-3C>A" "r.spl?" "p.?" "" "0000677209" "00025936" "70" "2450" "-3" "2450" "-3" "c.2450-3C>A" "r.spl?" "p.?" "" "0000677210" "00001596" "50" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Asn422Ser)" "" "0000677210" "00025936" "50" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Asn422Ser)" "" "0000689239" "00001596" "50" "6664" "0" "6664" "0" "c.6664G>A" "r.(?)" "p.(Ala2222Thr)" "" "0000689239" "00025936" "50" "6664" "0" "6664" "0" "c.6664G>A" "r.(?)" "p.(Ala2222Thr)" "" "0000689240" "00001596" "50" "6330" "4580" "6330" "4580" "c.6330+4580C>A" "r.(=)" "p.(=)" "" "0000689240" "00025936" "50" "6330" "4580" "6330" "4580" "c.6330+4580C>A" "r.(=)" "p.(=)" "" "0000689241" "00001596" "30" "6036" "0" "6036" "0" "c.6036C>T" "r.(?)" "p.(Ala2012=)" "" "0000689241" "00025936" "30" "6036" "0" "6036" "0" "c.6036C>T" "r.(?)" "p.(Ala2012=)" "" "0000689242" "00001596" "30" "2556" "0" "2556" "0" "c.2556C>T" "r.(?)" "p.(Asn852=)" "" "0000689242" "00025936" "30" "2556" "0" "2556" "0" "c.2556C>T" "r.(?)" "p.(Asn852=)" "" "0000719770" "00001596" "10" "8390" "0" "8390" "0" "c.8390C>T" "r.(?)" "p.(Ser2797Leu)" "" "0000719770" "00025936" "10" "8393" "0" "8393" "0" "c.8393C>T" "r.(?)" "p.(Ser2798Leu)" "" "0000719771" "00001596" "10" "8074" "0" "8074" "0" "c.8074G>A" "r.(?)" "p.(Ala2692Thr)" "" "0000719771" "00025936" "10" "8077" "0" "8077" "0" "c.8077G>A" "r.(?)" "p.(Ala2693Thr)" "" "0000719772" "00001596" "50" "7358" "0" "7358" "0" "c.7358G>A" "r.(?)" "p.(Arg2453Lys)" "" "0000719772" "00025936" "50" "7358" "0" "7358" "0" "c.7358G>A" "r.(?)" "p.(Arg2453Lys)" "" "0000719773" "00001596" "50" "6330" "4451" "6330" "4451" "c.6330+4451G>T" "r.(=)" "p.(=)" "" "0000719773" "00025936" "50" "6330" "4451" "6330" "4451" "c.6330+4451G>T" "r.(=)" "p.(=)" "" "0000719774" "00001596" "50" "5030" "0" "5030" "0" "c.5030A>G" "r.(?)" "p.(Asn1677Ser)" "" "0000719774" "00025936" "50" "5030" "0" "5030" "0" "c.5030A>G" "r.(?)" "p.(Asn1677Ser)" "" "0000719775" "00001596" "50" "4907" "0" "4907" "0" "c.4907C>G" "r.(?)" "p.(Ala1636Gly)" "" "0000719775" "00025936" "50" "4907" "0" "4907" "0" "c.4907C>G" "r.(?)" "p.(Ala1636Gly)" "" "0000719776" "00001596" "50" "4124" "0" "4124" "0" "c.4124T>G" "r.(?)" "p.(Ile1375Arg)" "" "0000719776" "00025936" "50" "4124" "0" "4124" "0" "c.4124T>G" "r.(?)" "p.(Ile1375Arg)" "" "0000719777" "00001596" "30" "3262" "0" "3262" "0" "c.3262G>C" "r.(?)" "p.(Glu1088Gln)" "" "0000719777" "00025936" "30" "3262" "0" "3262" "0" "c.3262G>C" "r.(?)" "p.(Glu1088Gln)" "" "0000719778" "00001596" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000719778" "00025936" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000719779" "00001596" "50" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Lys280Asn)" "" "0000719779" "00025936" "50" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Lys280Asn)" "" "0000734043" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000734139" "00001596" "50" "8167" "0" "8167" "0" "c.8167G>A" "r.(?)" "p.(Glu2723Lys)" "" "0000734193" "00001596" "50" "7016" "0" "7016" "0" "c.7016G>T" "r.(?)" "p.(Ser2339Ile)" "" "0000734292" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000734327" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000734541" "00001596" "50" "7016" "0" "7016" "0" "c.7016G>T" "r.(?)" "p.(Ser2339Ile)" "" "0000734637" "00001596" "50" "173" "0" "173" "0" "c.173G>C" "r.(?)" "p.(Gly58Ala)" "" "0000735007" "00001596" "50" "7016" "0" "7016" "0" "c.7016G>T" "r.(?)" "p.(Ser2339Ile)" "" "0000735046" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000735051" "00001596" "50" "1604" "0" "1604" "0" "c.1604C>T" "r.(?)" "p.(Ser535Phe)" "" "0000735083" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000735097" "00001596" "50" "4254" "0" "4254" "0" "c.4254A>G" "r.(?)" "p.(Ile1418Met)" "" "0000735118" "00001596" "50" "3778" "0" "3778" "0" "c.3778G>C" "r.(?)" "p.(Ala1260Pro)" "" "0000735148" "00001596" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Glu88Lys)" "" "0000735255" "00001596" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Gly524Ser)" "" "0000735432" "00001596" "50" "2436" "0" "2436" "0" "c.2436G>C" "r.(?)" "p.(Lys812Asn)" "" "0000735465" "00001596" "50" "7016" "0" "7016" "0" "c.7016G>T" "r.(?)" "p.(Ser2339Ile)" "" "0000801524" "00001596" "50" "8524" "0" "8524" "0" "c.8524C>T" "r.(?)" "p.(Arg2842Trp)" "" "0000801524" "00025936" "50" "8527" "0" "8527" "0" "c.8527C>T" "r.(?)" "p.(Arg2843Trp)" "" "0000801525" "00001596" "50" "8458" "0" "8458" "0" "c.8458G>A" "r.(?)" "p.(Asp2820Asn)" "" "0000801525" "00025936" "50" "8461" "0" "8461" "0" "c.8461G>A" "r.(?)" "p.(Asp2821Asn)" "" "0000801526" "00001596" "50" "5369" "0" "5369" "0" "c.5369C>T" "r.(?)" "p.(Pro1790Leu)" "" "0000801526" "00025936" "50" "5369" "0" "5369" "0" "c.5369C>T" "r.(?)" "p.(Pro1790Leu)" "" "0000801527" "00001596" "10" "5171" "20" "5171" "20" "c.5171+20G>A" "r.(=)" "p.(=)" "" "0000801527" "00025936" "10" "5171" "20" "5171" "20" "c.5171+20G>A" "r.(=)" "p.(=)" "" "0000801528" "00001596" "30" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Met1190Val)" "" "0000801528" "00025936" "30" "3568" "0" "3568" "0" "c.3568A>G" "r.(?)" "p.(Met1190Val)" "" "0000801529" "00001596" "30" "3012" "0" "3012" "0" "c.3012A>G" "r.(?)" "p.(Ala1004=)" "" "0000801529" "00025936" "30" "3012" "0" "3012" "0" "c.3012A>G" "r.(?)" "p.(Ala1004=)" "" "0000801530" "00001596" "10" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ile724Val)" "" "0000801530" "00025936" "10" "2170" "0" "2170" "0" "c.2170A>G" "r.(?)" "p.(Ile724Val)" "" "0000801531" "00001596" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000801531" "00025936" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000801532" "00001596" "50" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Lys280Asn)" "" "0000801532" "00025936" "50" "840" "0" "840" "0" "c.840G>C" "r.(?)" "p.(Lys280Asn)" "" "0000801533" "00001596" "30" "549" "6" "549" "6" "c.549+6A>C" "r.(=)" "p.(=)" "" "0000801533" "00025936" "30" "549" "6" "549" "6" "c.549+6A>C" "r.(=)" "p.(=)" "" "0000850535" "00001596" "50" "8380" "0" "8380" "0" "c.8380C>T" "r.(?)" "p.(Arg2794Trp)" "" "0000850535" "00025936" "50" "8383" "0" "8383" "0" "c.8383C>T" "r.(?)" "p.(Arg2795Trp)" "" "0000850536" "00001596" "50" "6574" "0" "6574" "0" "c.6574C>T" "r.(?)" "p.(Arg2192Cys)" "" "0000850536" "00025936" "50" "6574" "0" "6574" "0" "c.6574C>T" "r.(?)" "p.(Arg2192Cys)" "" "0000850537" "00001596" "30" "2258" "7" "2258" "7" "c.2258+7A>G" "r.(=)" "p.(=)" "" "0000850537" "00025936" "30" "2258" "7" "2258" "7" "c.2258+7A>G" "r.(=)" "p.(=)" "" "0000850538" "00001596" "30" "375" "0" "375" "0" "c.375T>A" "r.(?)" "p.(Leu125=)" "" "0000850538" "00025936" "30" "375" "0" "375" "0" "c.375T>A" "r.(?)" "p.(Leu125=)" "" "0000859251" "00001596" "50" "6887" "0" "6887" "0" "c.6887C>A" "r.(?)" "p.(Thr2296Asn)" "" "0000859251" "00025936" "50" "6887" "0" "6887" "0" "c.6887C>A" "r.(?)" "p.(Thr2296Asn)" "" "0000859252" "00001596" "50" "6827" "0" "6827" "0" "c.6827G>A" "r.(?)" "p.(Arg2276His)" "" "0000859252" "00025936" "50" "6827" "0" "6827" "0" "c.6827G>A" "r.(?)" "p.(Arg2276His)" "" "0000859253" "00001596" "30" "6331" "-5" "6331" "-5" "c.6331-5A>G" "r.spl?" "p.?" "" "0000859253" "00025936" "30" "6331" "-5" "6331" "-5" "c.6331-5A>G" "r.spl?" "p.?" "" "0000859254" "00001596" "10" "5550" "0" "5550" "0" "c.5550T>C" "r.(?)" "p.(Val1850=)" "" "0000859254" "00025936" "10" "5550" "0" "5550" "0" "c.5550T>C" "r.(?)" "p.(Val1850=)" "" "0000859255" "00001596" "50" "5149" "0" "5149" "0" "c.5149G>A" "r.(?)" "p.(Val1717Met)" "" "0000859255" "00025936" "50" "5149" "0" "5149" "0" "c.5149G>A" "r.(?)" "p.(Val1717Met)" "" "0000859256" "00001596" "50" "2439" "0" "2439" "0" "c.2439A>G" "r.(?)" "p.(Ile813Met)" "" "0000859256" "00025936" "50" "2439" "0" "2439" "0" "c.2439A>G" "r.(?)" "p.(Ile813Met)" "" "0000859257" "00001596" "90" "2028" "0" "2028" "0" "c.2028dup" "r.(?)" "p.(Leu677Ilefs*6)" "" "0000859257" "00025936" "90" "2028" "0" "2028" "0" "c.2028dup" "r.(?)" "p.(Leu677Ilefs*6)" "" "0000859258" "00001596" "50" "1915" "0" "1915" "0" "c.1915A>G" "r.(?)" "p.(Lys639Glu)" "" "0000859258" "00025936" "50" "1915" "0" "1915" "0" "c.1915A>G" "r.(?)" "p.(Lys639Glu)" "" "0000859259" "00001596" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000859259" "00025936" "50" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Tyr591His)" "" "0000859260" "00001596" "70" "1493" "2" "1493" "2" "c.1493+2T>A" "r.spl?" "p.?" "" "0000859260" "00025936" "70" "1493" "2" "1493" "2" "c.1493+2T>A" "r.spl?" "p.?" "" "0000886149" "00001596" "30" "5755" "-18" "5755" "-18" "c.5755-18T>C" "r.(=)" "p.(=)" "" "0000886149" "00025936" "30" "5755" "-18" "5755" "-18" "c.5755-18T>C" "r.(=)" "p.(=)" "" "0000886150" "00001596" "30" "4570" "-6" "4570" "-6" "c.4570-6T>A" "r.(=)" "p.(=)" "" "0000886150" "00025936" "30" "4570" "-6" "4570" "-6" "c.4570-6T>A" "r.(=)" "p.(=)" "" "0000886151" "00001596" "30" "4005" "-11" "4005" "-11" "c.4005-11T>C" "r.(=)" "p.(=)" "" "0000886151" "00025936" "30" "4005" "-11" "4005" "-11" "c.4005-11T>C" "r.(=)" "p.(=)" "" "0000886152" "00001596" "30" "3859" "0" "3859" "0" "c.3859A>G" "r.(?)" "p.(Ile1287Val)" "" "0000886152" "00025936" "30" "3859" "0" "3859" "0" "c.3859A>G" "r.(?)" "p.(Ile1287Val)" "" "0000886153" "00001596" "30" "217" "-11" "217" "-10" "c.217-11_217-10dup" "r.(=)" "p.(=)" "" "0000886153" "00025936" "30" "217" "-11" "217" "-10" "c.217-11_217-10dup" "r.(=)" "p.(=)" "" "0000912065" "00001596" "30" "8548" "0" "8548" "0" "c.8548C>T" "r.(?)" "p.(Arg2850Cys)" "" "0000912065" "00025936" "30" "8551" "0" "8551" "0" "c.8551C>T" "r.(?)" "p.(Arg2851Cys)" "" "0000912067" "00001596" "30" "1409" "0" "1409" "0" "c.1409T>C" "r.(?)" "p.(Ile470Thr)" "" "0000912067" "00025936" "30" "1409" "0" "1409" "0" "c.1409T>C" "r.(?)" "p.(Ile470Thr)" "" "0000924068" "00001596" "50" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0000924068" "00025936" "50" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0000924069" "00001596" "50" "6330" "4361" "6330" "4361" "c.6330+4361C>T" "r.(=)" "p.(=)" "" "0000924069" "00025936" "50" "6330" "4361" "6330" "4361" "c.6330+4361C>T" "r.(=)" "p.(=)" "" "0000924070" "00001596" "30" "3826" "-5" "3826" "-5" "c.3826-5A>G" "r.spl?" "p.?" "" "0000924070" "00025936" "30" "3826" "-5" "3826" "-5" "c.3826-5A>G" "r.spl?" "p.?" "" "0000924071" "00001596" "30" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Thr1167Ala)" "" "0000924071" "00025936" "30" "3499" "0" "3499" "0" "c.3499A>G" "r.(?)" "p.(Thr1167Ala)" "" "0000924072" "00001596" "30" "3350" "0" "3350" "0" "c.3350G>T" "r.(?)" "p.(Gly1117Val)" "" "0000924072" "00025936" "30" "3350" "0" "3350" "0" "c.3350G>T" "r.(?)" "p.(Gly1117Val)" "" "0000924073" "00001596" "30" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Ser462=)" "" "0000924073" "00025936" "30" "1386" "0" "1386" "0" "c.1386C>T" "r.(?)" "p.(Ser462=)" "" "0000924074" "00001596" "30" "449" "-19" "449" "-19" "c.449-19C>T" "r.(=)" "p.(=)" "" "0000924074" "00025936" "30" "449" "-19" "449" "-19" "c.449-19C>T" "r.(=)" "p.(=)" "" "0000948271" "00001596" "30" "5921" "17" "5921" "17" "c.5921+17A>G" "r.(=)" "p.(=)" "" "0000948271" "00025936" "30" "5921" "17" "5921" "17" "c.5921+17A>G" "r.(=)" "p.(=)" "" "0000948272" "00001596" "30" "4729" "7" "4729" "8" "c.4729+7_4729+8del" "r.(=)" "p.(=)" "" "0000948272" "00025936" "30" "4729" "7" "4729" "8" "c.4729+7_4729+8del" "r.(=)" "p.(=)" "" "0000963031" "00001596" "30" "345" "0" "345" "0" "c.345A>C" "r.(?)" "p.(Thr115=)" "" "0000963031" "00025936" "30" "345" "0" "345" "0" "c.345A>C" "r.(?)" "p.(Thr115=)" "" "0000971526" "00001596" "70" "659" "0" "659" "0" "c.659C>G" "r.(?)" "p.(Pro220Arg)" "6" "0000971527" "00001596" "90" "957" "0" "957" "0" "c.957T>A" "r.(?)" "p.(Tyr319*)" "8" "0000976142" "00001596" "50" "5518" "2" "5518" "2" "c.5518+2T>C" "r.spl?" "p.?" "" "0000976142" "00025936" "50" "5518" "2" "5518" "2" "c.5518+2T>C" "r.spl?" "p.?" "" "0000976143" "00001596" "70" "3968" "0" "3968" "0" "c.3968T>G" "r.(?)" "p.(Leu1323*)" "" "0000976143" "00025936" "70" "3968" "0" "3968" "0" "c.3968T>G" "r.(?)" "p.(Leu1323*)" "" "0000976144" "00001596" "30" "3825" "9" "3825" "9" "c.3825+9A>G" "r.(=)" "p.(=)" "" "0000976144" "00025936" "30" "3825" "9" "3825" "9" "c.3825+9A>G" "r.(=)" "p.(=)" "" "0000976145" "00001596" "50" "2536" "0" "2536" "0" "c.2536A>G" "r.(?)" "p.(Met846Val)" "" "0000976145" "00025936" "50" "2536" "0" "2536" "0" "c.2536A>G" "r.(?)" "p.(Met846Val)" "" "0000976146" "00001596" "50" "1409" "0" "1409" "0" "c.1409T>C" "r.(?)" "p.(Ile470Thr)" "" "0000976146" "00025936" "50" "1409" "0" "1409" "0" "c.1409T>C" "r.(?)" "p.(Ile470Thr)" "" "0000985328" "00001596" "70" "2836" "0" "2839" "0" "c.2836_2839del" "r.(?)" "p.(Glu946Ter)" "23" "0000988465" "00001596" "50" "7904" "0" "7904" "0" "c.7904G>A" "r.(?)" "p.(Arg2635His)" "" "0000994109" "00001596" "30" "6330" "4426" "6330" "4426" "c.6330+4426T>C" "r.(=)" "p.(=)" "" "0000994109" "00025936" "30" "6330" "4426" "6330" "4426" "c.6330+4426T>C" "r.(=)" "p.(=)" "" "0000994110" "00001596" "50" "6330" "4412" "6330" "4412" "c.6330+4412C>T" "r.(=)" "p.(=)" "" "0000994110" "00025936" "50" "6330" "4412" "6330" "4412" "c.6330+4412C>T" "r.(=)" "p.(=)" "" "0000994111" "00001596" "30" "3262" "0" "3262" "0" "c.3262G>C" "r.(?)" "p.(Glu1088Gln)" "" "0000994111" "00025936" "30" "3262" "0" "3262" "0" "c.3262G>C" "r.(?)" "p.(Glu1088Gln)" "" "0000994112" "00001596" "50" "2240" "0" "2240" "0" "c.2240T>C" "r.(?)" "p.(Leu747Ser)" "" "0000994112" "00025936" "50" "2240" "0" "2240" "0" "c.2240T>C" "r.(?)" "p.(Leu747Ser)" "" "0001024894" "00001596" "50" "6330" "3949" "6330" "3949" "c.6330+3949T>A" "r.(=)" "p.(=)" "" "0001024894" "00025936" "50" "6330" "3949" "6330" "3949" "c.6330+3949T>A" "r.(=)" "p.(=)" "" "0001034365" "00001596" "50" "7637" "0" "7637" "0" "c.7637A>G" "r.(?)" "p.(Gln2546Arg)" "" "0001034365" "00025936" "50" "7637" "0" "7637" "0" "c.7637A>G" "r.(?)" "p.(Gln2546Arg)" "" "0001034366" "00001596" "50" "7570" "0" "7570" "0" "c.7570G>A" "r.(?)" "p.(Ala2524Thr)" "" "0001034366" "00025936" "50" "7570" "0" "7570" "0" "c.7570G>A" "r.(?)" "p.(Ala2524Thr)" "" "0001034367" "00001596" "50" "7256" "0" "7256" "0" "c.7256A>C" "r.(?)" "p.(Tyr2419Ser)" "" "0001034367" "00025936" "50" "7256" "0" "7256" "0" "c.7256A>C" "r.(?)" "p.(Tyr2419Ser)" "" "0001034368" "00001596" "50" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Glu2208Lys)" "" "0001034368" "00025936" "50" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Glu2208Lys)" "" "0001034369" "00001596" "30" "6448" "4" "6448" "4" "c.6448+4A>G" "r.spl?" "p.?" "" "0001034369" "00025936" "30" "6448" "4" "6448" "4" "c.6448+4A>G" "r.spl?" "p.?" "" "0001034370" "00001596" "50" "6330" "4580" "6330" "4580" "c.6330+4580C>A" "r.(=)" "p.(=)" "" "0001034370" "00025936" "50" "6330" "4580" "6330" "4580" "c.6330+4580C>A" "r.(=)" "p.(=)" "" "0001034371" "00001596" "50" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0001034371" "00025936" "50" "6330" "4562" "6330" "4562" "c.6330+4562C>T" "r.(=)" "p.(=)" "" "0001034372" "00001596" "50" "6005" "0" "6005" "0" "c.6005C>G" "r.(?)" "p.(Ser2002Trp)" "" "0001034372" "00025936" "50" "6005" "0" "6005" "0" "c.6005C>G" "r.(?)" "p.(Ser2002Trp)" "" "0001034373" "00001596" "30" "5581" "-5" "5581" "-5" "c.5581-5del" "r.spl?" "p.?" "" "0001034373" "00025936" "30" "5581" "-5" "5581" "-5" "c.5581-5del" "r.spl?" "p.?" "" "0001034374" "00001596" "30" "5306" "-5" "5306" "-5" "c.5306-5T>C" "r.spl?" "p.?" "" "0001034374" "00025936" "30" "5306" "-5" "5306" "-5" "c.5306-5T>C" "r.spl?" "p.?" "" "0001034375" "00001596" "50" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Glu1565Gly)" "" "0001034375" "00025936" "50" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Glu1565Gly)" "" "0001034376" "00001596" "30" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0001034376" "00025936" "30" "1015" "-10" "1015" "-10" "c.1015-10del" "r.(=)" "p.(=)" "" "0001034377" "00001596" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Lys261Arg)" "" "0001034377" "00025936" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Lys261Arg)" "" "0001034378" "00001596" "50" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0001034378" "00025936" "50" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004030" "0000294719" "0000651408" "0000294720" "0000651409" "0000294721" "0000651410" "0000294722" "0000651411" "0000294723" "0000651412" "0000294724" "0000651413" "0000294725" "0000651414" "0000294726" "0000651415" "0000306114" "0000669802" "0000335545" "0000734043" "0000335576" "0000734139" "0000335584" "0000735046" "0000335594" "0000734193" "0000335625" "0000734292" "0000335635" "0000734327" "0000335740" "0000734541" "0000335769" "0000734637" "0000336076" "0000735007" "0000336081" "0000735051" "0000336088" "0000735083" "0000336091" "0000735097" "0000336098" "0000735118" "0000336108" "0000735148" "0000336155" "0000735255" "0000336245" "0000735432" "0000336252" "0000735465" "0000449942" "0000971526" "0000449943" "0000971527" "0000451440" "0000985328" "0000453708" "0000988465"