### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAR) # 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}}" "ADAR" "adenosine deaminase, RNA-specific" "1" "q21.3" "unknown" "NG_011844.1" "UD_132119112264" "" "http://www.LOVD.nl/ADAR" "" "1" "225" "103" "146920" "1" "1" "1" "1" "" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "g" "http://databases.lovd.nl/shared/refseq/ADAR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-11-09 00:00:00" "00006" "2016-02-04 02:18:42" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002115" "ADAR" "transcript variant 1" "004" "NM_001111.4" "" "NP_001102.2" "" "" "" "-242" "6430" "3681" "154580724" "154554533" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01291" "DSH" "dyschromatosis symmetrica hereditaria (DSH)" "AD" "127400" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03805" "AGS6" "Aicardi-Goutieres syndrome, type 6 (AGS6)" "AR" "615010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05129" "AGS" "Aicardi-Goutieres syndrome (AGS)" "" "" "" "" "" "00006" "2016-02-03 07:50:41" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ADAR" "00139" "ADAR" "01291" "ADAR" "03805" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00058791" "" "" "" "3" "" "00006" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "Norwegian" "" "00058792" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "Italian" "" "00058793" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "" "" "yes" "" "" "0" "" "" "Pakistani" "" "00058794" "" "" "" "1" "" "00640" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "Brazilian" "" "00058795" "" "" "" "1" "" "00640" "{PMID23001123:Rice 2012}" "" "" "yes" "" "" "0" "" "" "Pakistani" "" "00058796" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "Indian" "" "00058797" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "Italian" "" "00058798" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "" "" "no" "" "" "0" "" "" "White British" "" "00058799" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "Identical Twin 1" "" "no" "" "" "0" "" "" "Spanish" "" "00058800" "" "" "" "1" "" "00006" "{PMID23001123:Rice 2012}" "Identical Twin 2" "" "no" "" "" "0" "" "" "Spanish" "" "00058801" "" "" "" "1" "" "00006" "" "" "" "no" "" "" "0" "" "" "European-American" "" "00210194" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00230643" "" "" "" "4" "" "03264" "{PMID:Zhang 2013:23621630}" "3-generation family, 4 affected (3F, M)" "M" "-" "China" "" "0" "" "" "" "FamPatIII1" "00230644" "" "" "" "1" "" "03264" "{PMID:Liu 2014:24950769}" "5-generation family, 4 affected (2F, 2M)" "F;M" "-" "China" "" "0" "" "" "" "Fam1Pat1" "00230949" "" "" "" "4" "" "00006" "{PMID:Liu 2014:24950769}" "3-generation family, 4 affected (2F, 2M)" "F;M" "" "China" "" "0" "" "" "" "Fam2Pat2" "00230950" "" "" "" "2" "" "00006" "{PMID:Liu 2014:24950769}" "2-generation family, affected father/son" "M" "" "China" "" "0" "" "" "" "Fam3Pat4" "00230951" "" "" "" "4" "" "00006" "{PMID:Liu 2014:24950769}" "3-generation family, 4 affected (2F, 2M)" "F;M" "" "China" "" "0" "" "" "" "Fam4Pat4" "00230952" "" "" "" "5" "" "00006" "{PMID:Liu 2014:24950769}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "Fam5Pat5" "00230953" "" "" "" "5" "" "00006" "{PMID:Liu 2014:24950769}" "4-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "Fam6Pat6" "00230954" "" "" "" "5" "" "00006" "{PMID:Liu 2014:24950769}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "Fam7Pat7" "00274152" "" "" "" "2" "" "00006" "{PMID:Pronicka 2016:27290639}" "2-generation family, 2 affected brothers" "F" "" "Poland" "" "0" "" "" "" "Pat18" "00289527" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304146" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374179" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2936" "00374645" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4896" "00459434" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00058791" "05129" "00058792" "05129" "00058793" "05129" "00058794" "05129" "00058795" "05129" "00058796" "05129" "00058797" "05129" "00058798" "05129" "00058799" "05129" "00058800" "05129" "00058801" "05129" "00230643" "01291" "00230644" "01291" "00230949" "01291" "00230950" "01291" "00230951" "01291" "00230952" "01291" "00230953" "01291" "00230954" "01291" "00274152" "00198" "00289527" "00198" "00304146" "00198" "00374179" "00198" "00374645" "00198" "00459434" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01291, 03805, 05129, 05611 ## Count = 24 "{{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}}" "0000045382" "05129" "00058791" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045383" "05129" "00058792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045384" "05129" "00058793" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045385" "05129" "00058794" "00640" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045386" "05129" "00058795" "00640" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045387" "05129" "00058796" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045388" "05129" "00058797" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045389" "05129" "00058798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045390" "05129" "00058799" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045391" "05129" "00058800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045392" "05129" "00058801" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158760" "00198" "00210194" "01164" "Unknown" "" "HP:0011842 (Abnormality of skeletal morphology); HP:0011400 (Abnormal CNS myelination); HP:0000252 (Microcephaly)" "" "" "" "" "" "" "" "" "" "" "" "0000173431" "01291" "00230643" "00006" "Familial, autosomal dominant" "13y" "typical hyperpigmented and hypopigmented macules variable in shape and size on dorsal aspects hands and feet" "05y" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173432" "01291" "00230644" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173433" "01291" "00230949" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173434" "01291" "00230950" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173435" "01291" "00230951" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173436" "01291" "00230952" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173437" "01291" "00230953" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000173438" "01291" "00230954" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DSH" "dyschromatosis symmetrica hereditaria" "" "0000209097" "00198" "00274152" "00006" "Familial, autosomal recessive" "" "involvement basal ganglia; mitochondrial disease criteria score 3; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000269389" "00198" "00374179" "00006" "Familial, autosomal dominant" "" "Developmental delay, microcephaly and Dandy-Walker malformations" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000269855" "00198" "00374645" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000347510" "05611" "00459434" "03544" "Isolated (sporadic)" "" "HP:0007565, HP:0001250, HP:0001263" "" "" "" "" "" "" "" "" "DSH" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058753" "00058791" "1" "00006" "00006" "2012-11-09 11:25:02" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058754" "00058792" "1" "00006" "00006" "2012-11-09 11:56:45" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058755" "00058793" "1" "00006" "00006" "2012-11-09 13:01:28" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058756" "00058794" "1" "00640" "00640" "2012-11-09 13:19:11" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058757" "00058795" "1" "00640" "00640" "2012-11-09 13:28:32" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058758" "00058796" "1" "00006" "00006" "2012-11-09 14:00:53" "01537" "2012-12-11 11:46:34" "SEQ" "DNA" "" "" "0000058759" "00058797" "1" "00006" "00006" "2012-11-09 14:22:18" "01537" "2012-12-03 14:48:33" "SEQ" "DNA" "" "" "0000058760" "00058798" "1" "00006" "00006" "2012-11-09 14:32:53" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058761" "00058799" "1" "00006" "00006" "2012-11-09 14:40:21" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058762" "00058800" "1" "00006" "00006" "2012-11-09 14:45:13" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000058763" "00058801" "1" "00006" "00006" "2012-11-09 14:51:44" "01537" "2012-12-03 15:03:31" "SEQ" "DNA" "" "" "0000211270" "00210194" "1" "01164" "01164" "2018-12-27 15:49:47" "" "" "SEQ-NG" "DNA" "" "" "0000231739" "00230643" "1" "03264" "03264" "2019-04-18 00:25:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000231740" "00230644" "1" "03264" "03264" "2019-04-18 01:29:00" "" "" "RT-PCR;SEQ" "RNA" "" "" "0000232045" "00230949" "1" "00006" "00006" "2019-04-19 23:11:37" "" "" "SEQ" "DNA" "" "" "0000232046" "00230950" "1" "00006" "00006" "2019-04-19 23:14:07" "" "" "SEQ" "DNA" "" "" "0000232047" "00230951" "1" "00006" "00006" "2019-04-19 23:17:39" "" "" "SEQ" "DNA" "" "" "0000232048" "00230952" "1" "00006" "00006" "2019-04-19 23:20:49" "00006" "2019-04-19 23:25:27" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000232049" "00230953" "1" "00006" "00006" "2019-04-19 23:27:17" "" "" "SEQ" "DNA" "" "" "0000232050" "00230954" "1" "00006" "00006" "2019-04-19 23:29:47" "" "" "SEQ" "DNA" "" "" "0000275307" "00274152" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290695" "00289527" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305275" "00304146" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375373" "00374179" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375839" "00374645" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000461059" "00459434" "1" "03544" "03544" "2024-12-30 07:44:31" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000058753" "ADAR" "0000058754" "ADAR" "0000058755" "ADAR" "0000058756" "ADAR" "0000058757" "ADAR" "0000058758" "ADAR" "0000058759" "ADAR" "0000058760" "ADAR" "0000058761" "ADAR" "0000058762" "ADAR" "0000058763" "ADAR" "0000231739" "ADAR" "0000231740" "ADAR" "0000232045" "ADAR" "0000232046" "ADAR" "0000232047" "ADAR" "0000232048" "ADAR" "0000232049" "ADAR" "0000232050" "ADAR" "0000275307" "ADAR" "0000375373" "ADAR" "0000375839" "ADAR" ## 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 = 161 "{{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}}" "0000089353" "1" "77" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089354" "1" "77" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089355" "10" "79" "1" "154557799" "154557799" "subst" "0" "00006" "ADAR_000004" "g.154557799C>G" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154585323C>G" "" "likely pathogenic" "" "0000089356" "10" "79" "1" "154560601" "154560601" "subst" "0" "00640" "ADAR_000005" "g.154560601C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "De novo" "" "" "0" "" "" "g.154588125C>T" "" "likely pathogenic" "" "0000089357" "20" "79" "1" "154557801" "154557801" "subst" "0" "00640" "ADAR_000006" "g.154557801T>A" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154585325T>A" "" "likely pathogenic" "" "0000089358" "3" "79" "1" "154560623" "154560623" "subst" "0" "00006" "ADAR_000008" "g.154560623C>A" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154588147C>A" "" "likely pathogenic" "" "0000089359" "1" "79" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089360" "1" "79" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089361" "1" "77" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089362" "1" "77" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "likely pathogenic" "" "0000089363" "0" "50" "1" "154560601" "154560601" "subst" "0" "00006" "ADAR_000005" "g.154560601C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "De novo" "" "" "0" "" "" "g.154588125C>T" "" "VUS" "" "0000089409" "0" "77" "1" "154561932" "154561932" "subst" "0" "00006" "ADAR_000002" "g.154561932C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154589456C>T" "" "likely pathogenic" "" "0000089410" "0" "77" "1" "154562293" "154562293" "subst" "0" "00006" "ADAR_000003" "g.154562293C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154589817C>T" "" "likely pathogenic" "" "0000089411" "20" "79" "1" "154557799" "154557799" "subst" "0" "00006" "ADAR_000004" "g.154557799C>G" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154585323C>G" "" "likely pathogenic" "" "0000089412" "0" "79" "1" "154574040" "154574044" "del" "0" "00006" "ADAR_000010" "g.154574040_154574044del" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154601564_154601568del" "" "likely pathogenic" "" "0000089413" "0" "79" "1" "154534348" "154534348" "subst" "0" "00006" "ADAR_000010" "g.154534348A>G" "" "{PMID:Rice 2012:23001123}" "" "" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.154561872A>G" "" "likely pathogenic" "" "0000089414" "0" "77" "1" "154561932" "154561932" "subst" "0" "00006" "ADAR_000002" "g.154561932C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154589456C>T" "" "likely pathogenic" "" "0000089415" "0" "77" "1" "154561932" "154561932" "subst" "0" "00006" "ADAR_000002" "g.154561932C>T" "" "{PMID:Rice 2012:23001123}" "" "" "" "Germline" "" "" "0" "" "" "g.154589456C>T" "" "likely pathogenic" "" "0000248111" "0" "30" "1" "154570312" "154570312" "subst" "0.00137682" "02325" "ADAR_000028" "g.154570312A>G" "" "" "" "ADAR(NM_001193495.2):c.1041T>C (p.H347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597836A>G" "" "likely benign" "" "0000248963" "0" "10" "1" "154600372" "154600372" "subst" "0.995675" "02325" "ADAR_000070" "g.154600372A>G" "" "" "" "ADAR(NM_001025107.3):c.-912T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154627896A>G" "" "benign" "" "0000249488" "0" "30" "1" "154569476" "154569476" "subst" "0" "02325" "ADAR_000024" "g.154569476A>G" "" "" "" "ADAR(NM_001193495.2):c.1195-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597000A>G" "" "likely benign" "" "0000252003" "0" "30" "1" "154600378" "154600378" "subst" "0" "02326" "ADAR_000071" "g.154600378A>C" "" "" "" "ADAR(NM_001025107.3):c.-918T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154627902A>C" "" "likely benign" "" "0000254101" "0" "30" "1" "154570312" "154570312" "subst" "0.00137682" "01943" "ADAR_000028" "g.154570312A>G" "" "" "" "ADAR(NM_001193495.2):c.1041T>C (p.H347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597836A>G" "" "likely benign" "" "0000255182" "0" "30" "1" "154562227" "154562227" "subst" "0.00205644" "01943" "ADAR_000018" "g.154562227A>G" "" "" "" "ADAR(NM_001193495.2):c.1783+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589751A>G" "" "likely benign" "" "0000258952" "0" "10" "1" "154580458" "154580458" "subst" "0.241241" "02325" "ADAR_000046" "g.154580458C>A" "" "" "" "ADAR(NM_001111.5):c.15+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154607982C>A" "" "benign" "" "0000258953" "0" "10" "1" "154561925" "154561925" "subst" "0.271046" "02325" "ADAR_000016" "g.154561925C>T" "" "" "" "ADAR(NM_001193495.2):c.1797G>A (p.V599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589449C>T" "" "benign" "" "0000258954" "0" "10" "1" "154557685" "154557685" "subst" "0.46618" "02325" "ADAR_000012" "g.154557685C>T" "" "" "" "ADAR(NM_001193495.2):c.2558+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154585209C>T" "" "benign" "" "0000258955" "0" "10" "1" "154573967" "154573967" "subst" "0.703499" "02325" "ADAR_000036" "g.154573967T>C" "" "" "" "ADAR(NM_001193495.2):c.266A>G (p.K89R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601491T>C" "" "benign" "" "0000258956" "0" "10" "1" "154574820" "154574820" "subst" "0.998899" "02325" "ADAR_000043" "g.154574820T>C" "" "" "" "ADAR(NM_001111.5):c.298A>G (p.R100G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000258957" "0" "10" "1" "154575040" "154575040" "subst" "0.999235" "02325" "ADAR_000045" "g.154575040C>T" "" "" "" "ADAR(NM_001111.5):c.78G>A (p.R26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154602564C>T" "" "benign" "" "0000259408" "0" "30" "1" "154570296" "154570296" "subst" "0.00021933" "02325" "ADAR_000027" "g.154570296G>A" "" "" "" "ADAR(NM_001111.5):c.1934+8C>T, ADAR(NM_001193495.2):c.1049+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597820G>A" "" "likely benign" "" "0000259409" "0" "30" "1" "154569763" "154569763" "subst" "0.00065154" "02325" "ADAR_000026" "g.154569763G>A" "" "" "" "ADAR(NM_001111.5):c.1935-20C>T, ADAR(NM_001193495.2):c.1050-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597287G>A" "" "likely benign" "" "0000259410" "0" "30" "1" "154569580" "154569580" "subst" "4.06425E-6" "02325" "ADAR_000025" "g.154569580G>A" "" "" "" "ADAR(NM_001193495.2):c.1194+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154597104G>A" "" "likely benign" "" "0000259411" "0" "30" "1" "154562881" "154562881" "subst" "0.000126116" "02325" "ADAR_000022" "g.154562881C>T" "" "" "" "ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154590405C>T" "" "likely benign" "" "0000259412" "0" "30" "1" "154562348" "154562348" "subst" "0.00245901" "02325" "ADAR_000020" "g.154562348G>A" "" "" "" "ADAR(NM_001193495.2):c.1668C>T (p.C556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589872G>A" "" "likely benign" "" "0000259413" "0" "30" "1" "154560602" "154560602" "subst" "0.000625579" "02325" "ADAR_000015" "g.154560602G>A" "" "" "" "ADAR(NM_001111.4):c.3018C>T (p.(Asn1006Asn)), ADAR(NM_001111.5):c.3018C>T (p.N1006=), ADAR(NM_001193495.2):c.2133C>T (p.N711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588126G>A" "" "likely benign" "" "0000259414" "0" "30" "1" "154560582" "154560582" "subst" "4.47431E-5" "02325" "ADAR_000014" "g.154560582G>A" "" "" "" "ADAR(NM_001193495.2):c.2134+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588106G>A" "" "likely benign" "" "0000259415" "0" "30" "1" "154573718" "154573718" "subst" "8.93582E-5" "02325" "ADAR_000035" "g.154573718C>T" "" "" "" "ADAR(NM_001193495.2):c.515G>A (p.R172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601242C>T" "" "likely benign" "" "0000259416" "0" "30" "1" "154574600" "154574600" "subst" "0.000475138" "02325" "ADAR_000042" "g.154574600T>C" "" "" "" "ADAR(NM_001111.5):c.518A>G (p.N173S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154602124T>C" "" "likely benign" "" "0000259417" "0" "30" "1" "154574443" "154574443" "subst" "3.65542E-5" "02325" "ADAR_000041" "g.154574443C>T" "" "" "" "ADAR(NM_001111.5):c.675G>A (p.P225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601967C>T" "" "likely benign" "" "0000259418" "0" "30" "1" "154571038" "154571038" "subst" "8.52917E-5" "02325" "ADAR_000032" "g.154571038T>C" "" "" "" "ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154598562T>C" "" "likely benign" "" "0000259419" "0" "30" "1" "154574370" "154574370" "subst" "0" "02325" "ADAR_000039" "g.154574370C>A" "" "" "" "ADAR(NM_001111.5):c.748G>T (p.A250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601894C>A" "" "likely benign" "" "0000259420" "0" "30" "1" "154570938" "154570938" "subst" "0.000117778" "02325" "ADAR_000030" "g.154570938G>A" "" "" "" "ADAR(NM_001193495.2):c.840C>T (p.A280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154598462G>A" "" "likely benign" "" "0000259629" "0" "50" "1" "154557340" "154557340" "subst" "0" "02325" "ADAR_000011" "g.154557340T>C" "" "" "" "ADAR(NM_001193495.2):c.2738A>G (p.Y913C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154584864T>C" "" "VUS" "" "0000259630" "0" "50" "1" "154573653" "154573653" "subst" "0" "02325" "ADAR_000033" "g.154573653G>A" "" "" "" "ADAR(NM_001193495.2):c.580C>T (p.R194W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601177G>A" "" "VUS" "" "0000259631" "0" "50" "1" "154574422" "154574422" "subst" "0" "02325" "ADAR_000040" "g.154574422T>G" "" "" "" "ADAR(NM_001111.5):c.696A>C (p.R232S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601946T>G" "" "VUS" "" "0000259632" "0" "50" "1" "154570976" "154570976" "subst" "1.21841E-5" "02325" "ADAR_000031" "g.154570976T>C" "" "" "" "ADAR(NM_001193495.2):c.802A>G (p.M268V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154598500T>C" "" "VUS" "" "0000260609" "0" "30" "1" "154562213" "154562213" "subst" "0.00249183" "02326" "ADAR_000017" "g.154562213T>G" "" "" "" "ADAR(NM_001193495.2):c.1783+20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589737T>G" "" "likely benign" "" "0000260610" "0" "30" "1" "154560602" "154560602" "subst" "0.000625579" "02326" "ADAR_000015" "g.154560602G>A" "" "" "" "ADAR(NM_001111.4):c.3018C>T (p.(Asn1006Asn)), ADAR(NM_001111.5):c.3018C>T (p.N1006=), ADAR(NM_001193495.2):c.2133C>T (p.N711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588126G>A" "" "likely benign" "" "0000261968" "0" "30" "1" "154562352" "154562352" "subst" "1.62603E-5" "01943" "ADAR_000021" "g.154562352C>T" "" "" "" "ADAR(NM_001193495.2):c.1664G>A (p.R555Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589876C>T" "" "likely benign" "" "0000261969" "0" "30" "1" "154560602" "154560602" "subst" "0.000625579" "01943" "ADAR_000015" "g.154560602G>A" "" "" "" "ADAR(NM_001111.4):c.3018C>T (p.(Asn1006Asn)), ADAR(NM_001111.5):c.3018C>T (p.N1006=), ADAR(NM_001193495.2):c.2133C>T (p.N711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588126G>A" "" "likely benign" "" "0000261970" "0" "30" "1" "154573993" "154573993" "subst" "0.000162612" "01943" "ADAR_000037" "g.154573993G>A" "" "" "" "ADAR(NM_001193495.2):c.240C>T (p.T80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601517G>A" "" "likely benign" "" "0000261971" "0" "30" "1" "154562252" "154562252" "subst" "2.8444E-5" "01943" "ADAR_000019" "g.154562252G>A" "" "" "" "ADAR(NM_001111.5):c.2649C>T (p.V883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589776G>A" "" "likely benign" "" "0000261972" "0" "30" "1" "154570906" "154570906" "subst" "0" "01943" "ADAR_000029" "g.154570906T>C" "" "" "" "ADAR(NM_001193495.2):c.872A>G (p.H291R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154598430T>C" "" "likely benign" "" "0000321010" "0" "50" "1" "154558246" "154558246" "subst" "4.06554E-6" "01804" "ADAR_000013" "g.154558246T>C" "" "" "" "ADAR(NM_001025107.2):c.2413A>G (p.(Ile805Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154585770T>C" "" "VUS" "" "0000321011" "0" "30" "1" "154560602" "154560602" "subst" "0.000625579" "01804" "ADAR_000015" "g.154560602G>A" "" "" "" "ADAR(NM_001111.4):c.3018C>T (p.(Asn1006Asn)), ADAR(NM_001111.5):c.3018C>T (p.N1006=), ADAR(NM_001193495.2):c.2133C>T (p.N711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588126G>A" "" "likely benign" "" "0000321014" "0" "50" "1" "154574076" "154574076" "subst" "0" "01804" "ADAR_000038" "g.154574076T>C" "" "" "" "ADAR(NM_001025107.2):c.157A>G (p.(Thr53Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154601600T>C" "" "VUS" "" "0000339488" "0" "10" "1" "154561925" "154561925" "subst" "0.271046" "02327" "ADAR_000016" "g.154561925C>T" "" "" "" "ADAR(NM_001193495.2):c.1797G>A (p.V599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589449C>T" "" "benign" "" "0000341643" "0" "50" "1" "154560712" "154560712" "subst" "1.21879E-5" "02327" "ADAR_000047" "g.154560712C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154588236C>T" "" "VUS" "" "0000343480" "0" "50" "1" "154561861" "154561861" "subst" "0" "02327" "ADAR_000048" "g.154561861G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154589385G>A" "" "VUS" "" "0000348259" "0" "50" "1" "154574541" "154574541" "subst" "0.00220524" "02327" "ADAR_000001" "g.154574541G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154602065G>C" "" "VUS" "" "0000442740" "0" "50" "1" "154562370" "154562370" "subst" "0" "01164" "ADAR_000049" "g.154562370A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154589894A>T" "" "VUS" "ACMG" "0000473811" "21" "90" "1" "154574846" "154574847" "del" "0" "03264" "ADAR_000050" "g.154574846_154574847del" "" "{PMID:Zhang 2013:23621630}" "" "271_272delAG" "causes nonsense mediated decay of mRNA coding for p150 protein isoform but does not affect expression of p110" "Germline" "yes" "" "0" "" "" "g.154602370_154602371del" "" "pathogenic (dominant)" "" "0000473812" "21" "90" "1" "154574562" "154574562" "subst" "0" "03264" "ADAR_000051" "g.154574562G>A" "" "{PMID:Liu 2014:24950769}" "" "" "causes nonsense mediated decay of mRNA for p150 protein isoform, does not mRNA for p110 expressed normally" "Germline" "yes" "" "0" "" "" "g.154602086G>A" "" "pathogenic (dominant)" "" "0000474357" "1" "90" "1" "154560619" "154560619" "subst" "0" "00006" "ADAR_000052" "g.154560619G>A" "" "{PMID:Liu 2014:24950769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.154588143G>A" "" "pathogenic (dominant)" "" "0000474358" "11" "90" "1" "154569741" "154569742" "ins" "0" "00006" "ADAR_000053" "g.154569741_154569742insCA" "" "{PMID:Liu 2014:24950769}" "" "1936_1937insTG" "" "Germline" "yes" "" "0" "" "" "g.154597265_154597266insCA" "" "pathogenic (dominant)" "" "0000474359" "1" "90" "1" "154574050" "154574053" "del" "0" "00006" "ADAR_000054" "g.154574050_154574053del" "" "{PMID:Liu 2014:24950769}" "" "1065_1068delGACA" "" "Germline" "yes" "" "0" "" "" "g.154601574_154601577del" "" "pathogenic (dominant)" "" "0000474360" "1" "90" "1" "154573517" "154573517" "subst" "8.12823E-6" "00006" "ADAR_000055" "g.154573517C>T" "" "{PMID:Liu 2014:24950769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.154601041C>T" "" "pathogenic (dominant)" "" "0000474361" "1" "90" "1" "154561863" "154561863" "subst" "0" "00006" "ADAR_000056" "g.154561863G>A" "" "{PMID:Liu 2014:24950769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.154589387G>A" "" "pathogenic (dominant)" "" "0000474362" "1" "90" "1" "154557500" "154557500" "subst" "0" "00006" "ADAR_000057" "g.154557500G>A" "" "{PMID:Liu 2014:24950769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.154585024G>A" "" "pathogenic (dominant)" "" "0000503510" "0" "50" "1" "154557340" "154557340" "subst" "0" "01943" "ADAR_000011" "g.154557340T>C" "" "" "" "ADAR(NM_001193495.2):c.2738A>G (p.Y913C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154584864T>C" "" "VUS" "" "0000503511" "0" "50" "1" "154558239" "154558239" "subst" "0" "02325" "ADAR_000058" "g.154558239T>C" "" "" "" "ADAR(NM_001193495.2):c.2420A>G (p.N807S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154585763T>C" "" "VUS" "" "0000503512" "0" "30" "1" "154558306" "154558306" "subst" "8.12651E-6" "01804" "ADAR_000059" "g.154558306T>C" "" "" "" "ADAR(NM_001025107.2):c.2353A>G (p.(Ile785Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154585830T>C" "" "likely benign" "" "0000503513" "0" "30" "1" "154562227" "154562227" "subst" "0.00205644" "02326" "ADAR_000018" "g.154562227A>G" "" "" "" "ADAR(NM_001193495.2):c.1783+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154589751A>G" "" "likely benign" "" "0000503514" "0" "10" "1" "154562348" "154562348" "subst" "0.00245901" "02326" "ADAR_000020" "g.154562348G>A" "" "" "" "ADAR(NM_001193495.2):c.1668C>T (p.C556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154589872G>A" "" "benign" "" "0000503515" "0" "50" "1" "154562364" "154562364" "subst" "0" "01943" "ADAR_000060" "g.154562364A>G" "" "" "" "ADAR(NM_001193495.2):c.1652T>C (p.M551T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154589888A>G" "" "VUS" "" "0000503516" "0" "30" "1" "154562881" "154562881" "subst" "0.000126116" "01804" "ADAR_000022" "g.154562881C>T" "" "" "" "ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154590405C>T" "" "likely benign" "" "0000503517" "0" "90" "1" "154569366" "154569367" "ins" "0" "01943" "ADAR_000061" "g.154569366_154569367insT" "" "" "" "ADAR(NM_001193495.2):c.1299_1300insA (p.G434Rfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154596890_154596891insT" "" "pathogenic" "" "0000503518" "0" "30" "1" "154570312" "154570312" "subst" "0.00137682" "02326" "ADAR_000028" "g.154570312A>G" "" "" "" "ADAR(NM_001193495.2):c.1041T>C (p.H347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154597836A>G" "" "likely benign" "" "0000503519" "0" "30" "1" "154570897" "154570897" "subst" "3.25005E-5" "01943" "ADAR_000062" "g.154570897G>C" "" "" "" "ADAR(NM_001193495.2):c.881C>G (p.T294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154598421G>C" "" "likely benign" "" "0000503520" "0" "30" "1" "154570938" "154570938" "subst" "0.000117778" "01943" "ADAR_000030" "g.154570938G>A" "" "" "" "ADAR(NM_001193495.2):c.840C>T (p.A280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154598462G>A" "" "likely benign" "" "0000503521" "0" "30" "1" "154571038" "154571038" "subst" "8.52917E-5" "01943" "ADAR_000032" "g.154571038T>C" "" "" "" "ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154598562T>C" "" "likely benign" "" "0000503522" "0" "30" "1" "154571038" "154571038" "subst" "8.52917E-5" "01804" "ADAR_000032" "g.154571038T>C" "" "" "" "ADAR(NM_001025107.2):c.740A>G (p.(Asn247Ser)), ADAR(NM_001193495.2):c.740A>G (p.N247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154598562T>C" "" "likely benign" "" "0000503523" "0" "30" "1" "154573600" "154573600" "subst" "3.6547E-5" "02326" "ADAR_000063" "g.154573600G>A" "" "" "" "ADAR(NM_001193495.2):c.633C>T (p.S211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154601124G>A" "" "likely benign" "" "0000503524" "0" "30" "1" "154574115" "154574115" "subst" "0.000817452" "01943" "ADAR_000064" "g.154574115T>A" "" "" "" "ADAR(NM_001193495.2):c.118A>T (p.I40F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154601639T>A" "" "likely benign" "" "0000503525" "0" "50" "1" "154574129" "154574129" "subst" "4.06388E-6" "01943" "ADAR_000065" "g.154574129A>G" "" "" "" "ADAR(NM_001193495.2):c.104T>C (p.I35T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154601653A>G" "" "VUS" "" "0000503526" "0" "30" "1" "154574443" "154574443" "subst" "3.65542E-5" "01943" "ADAR_000041" "g.154574443C>T" "" "" "" "ADAR(NM_001111.5):c.675G>A (p.P225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154601967C>T" "" "likely benign" "" "0000503527" "0" "50" "1" "154574541" "154574541" "subst" "0" "01943" "ADAR_000066" "g.154574541G>A" "" "" "" "ADAR(NM_001111.5):c.577C>T (p.P193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602065G>A" "" "VUS" "" "0000503528" "0" "50" "1" "154574541" "154574541" "subst" "0.00220524" "01943" "ADAR_000001" "g.154574541G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602065G>C" "" "VUS" "" "0000503529" "0" "50" "1" "154574541" "154574541" "subst" "0.00220524" "02325" "ADAR_000001" "g.154574541G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602065G>C" "" "VUS" "" "0000503530" "0" "90" "1" "154574541" "154574541" "subst" "0.00220524" "02326" "ADAR_000001" "g.154574541G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602065G>C" "" "pathogenic" "" "0000503531" "0" "30" "1" "154574597" "154574597" "subst" "1.21832E-5" "01804" "ADAR_000067" "g.154574597C>T" "" "" "" "ADAR(NM_001111.4):c.521G>A (p.(Arg174Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602121C>T" "" "likely benign" "" "0000503532" "0" "50" "1" "154574631" "154574631" "subst" "1.2184E-5" "01943" "ADAR_000068" "g.154574631C>T" "" "" "" "ADAR(NM_001111.5):c.487G>A (p.G163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602155C>T" "" "VUS" "" "0000503533" "0" "30" "1" "154580474" "154580474" "subst" "0" "02326" "ADAR_000069" "g.154580474C>T" "" "" "" "ADAR(NM_001111.5):c.9G>A (p.P3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154607998C>T" "" "likely benign" "" "0000604835" "0" "30" "1" "154557440" "154557440" "subst" "0.000987869" "01943" "ADAR_000072" "g.154557440T>G" "" "" "" "ADAR(NM_001111.5):c.3523A>C (p.(Arg1175=)), ADAR(NM_001193495.2):c.2638A>C (p.R880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154584964T>G" "" "likely benign" "" "0000604836" "0" "50" "1" "154557721" "154557721" "subst" "0" "02325" "ADAR_000073" "g.154557721G>C" "" "" "" "ADAR(NM_001193495.2):c.2530C>G (p.L844V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154585245G>C" "" "VUS" "" "0000604837" "0" "50" "1" "154558341" "154558341" "subst" "0" "01943" "ADAR_000074" "g.154558341C>A" "" "" "" "ADAR(NM_001193495.2):c.2318G>T (p.G773V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154585865C>A" "" "VUS" "" "0000604838" "0" "30" "1" "154561839" "154561839" "subst" "0.000122056" "01943" "ADAR_000075" "g.154561839G>A" "" "" "" "ADAR(NM_001193495.2):c.1877+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154589363G>A" "" "likely benign" "" "0000604839" "0" "50" "1" "154569393" "154569393" "subst" "0" "02325" "ADAR_000076" "g.154569393C>A" "" "" "" "ADAR(NM_001193495.2):c.1273G>T (p.V425L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154596917C>A" "" "VUS" "" "0000604841" "0" "50" "1" "154574213" "154574213" "subst" "0" "02325" "ADAR_000078" "g.154574213T>G" "" "" "" "ADAR(NM_001193495.2):c.20A>C (p.K7T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154601737T>G" "" "VUS" "" "0000604842" "0" "30" "1" "154574926" "154574926" "subst" "8.15634E-6" "01943" "ADAR_000080" "g.154574926C>T" "" "" "" "ADAR(NM_001111.5):c.192G>A (p.L64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602450C>T" "" "likely benign" "" "0000620402" "0" "30" "1" "154574631" "154574631" "subst" "1.2184E-5" "02326" "ADAR_000068" "g.154574631C>T" "" "" "" "ADAR(NM_001111.5):c.487G>A (p.G163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602155C>T" "" "likely benign" "" "0000620403" "0" "50" "1" "154574829" "154574829" "subst" "1.25155E-5" "02325" "ADAR_000079" "g.154574829C>T" "" "" "" "ADAR(NM_001111.5):c.289G>A (p.V97M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602353C>T" "" "VUS" "" "0000629271" "1" "90" "1" "154558656" "154558656" "subst" "0" "00006" "ADAR_000081" "g.154558656C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "moderate genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.154586180C>T" "" "pathogenic" "" "0000629338" "2" "90" "1" "154574541" "154574541" "subst" "0.00220524" "00006" "ADAR_000001" "g.154574541G>C" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.154602065G>C" "" "pathogenic" "" "0000647384" "1" "50" "1" "154574541" "154574541" "subst" "0.00220524" "03575" "ADAR_000001" "g.154574541G>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous; {DB:CLININrs145588689}" "Germline" "" "rs145588689" "0" "" "" "g.154602065G>C" "" "VUS" "" "0000653774" "0" "30" "1" "154562651" "154562651" "subst" "0.000414376" "01943" "ADAR_000082" "g.154562651C>T" "" "" "" "ADAR(NM_001111.5):c.2496+9G>A, ADAR(NM_001193495.2):c.1611+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154590175C>T" "" "likely benign" "" "0000653775" "0" "50" "1" "154562881" "154562881" "subst" "0.000126116" "01943" "ADAR_000022" "g.154562881C>T" "" "" "" "ADAR(NM_001025107.2):c.1390G>A (p.(Val464Ile)), ADAR(NM_001193495.2):c.1390G>A (p.V464I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154590405C>T" "" "VUS" "" "0000653776" "0" "50" "1" "154574954" "154574954" "subst" "0.000113764" "01943" "ADAR_000083" "g.154574954G>A" "" "" "" "ADAR(NM_001111.5):c.164C>T (p.P55L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154602478G>A" "" "VUS" "" "0000668963" "3" "50" "1" "154574541" "154574541" "subst" "0.00220524" "03575" "ADAR_000001" "g.154574541G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs145588689}" "Germline" "" "rs145588689" "0" "" "" "g.154602065G>C" "" "VUS" "" "0000687890" "0" "30" "1" "154569592" "154569592" "subst" "8.1279E-6" "02326" "ADAR_000084" "g.154569592G>A" "" "" "" "ADAR(NM_001193495.2):c.1194+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786724" "1" "70" "1" "154574330" "154574333" "del" "0" "00006" "ADAR_000085" "g.154574330_154574333del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.154601854_154601857del" "" "likely pathogenic" "" "0000787190" "0" "50" "1" "154574594" "154574594" "subst" "0" "00006" "ADAR_000086" "g.154574594A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.154602118A>T" "" "VUS" "" "0000798805" "0" "30" "1" "154569626" "154569626" "subst" "0.000105632" "01943" "ADAR_000087" "g.154569626C>T" "" "" "" "ADAR(NM_001193495.2):c.1167G>A (p.A389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798806" "0" "30" "1" "154569762" "154569762" "subst" "0.000716542" "02326" "ADAR_000088" "g.154569762C>T" "" "" "" "ADAR(NM_001111.5):c.1935-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798807" "0" "90" "1" "154574040" "154574040" "subst" "4.08437E-6" "02325" "ADAR_000089" "g.154574040G>A" "" "" "" "ADAR(NM_001111.5):c.1078C>T (p.R360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848317" "0" "30" "1" "154560744" "154560745" "del" "0.000353397" "01943" "ADAR_000090" "g.154560744_154560745del" "" "" "" "ADAR(NM_001111.5):c.2886-11_2886-10delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848318" "0" "30" "1" "154569763" "154569763" "subst" "0.00065154" "02326" "ADAR_000026" "g.154569763G>A" "" "" "" "ADAR(NM_001111.5):c.1935-20C>T, ADAR(NM_001193495.2):c.1050-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857033" "0" "30" "1" "154569444" "154569444" "subst" "0.000158422" "01943" "ADAR_000091" "g.154569444C>G" "" "" "" "ADAR(NM_001193495.2):c.1222G>C (p.D408H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857034" "0" "30" "1" "154574346" "154574346" "subst" "0.000763446" "01943" "ADAR_000092" "g.154574346C>T" "" "" "" "ADAR(NM_001111.5):c.772G>A (p.G258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882798" "0" "10" "1" "154557685" "154557685" "subst" "0.46618" "02329" "ADAR_000012" "g.154557685C>T" "" "" "" "ADAR(NM_001193495.2):c.2558+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882799" "0" "50" "1" "154557808" "154557808" "subst" "0" "01804" "ADAR_000093" "g.154557808T>C" "" "" "" "ADAR(NM_001111.4):c.3328A>G (p.(Ser1110Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882800" "0" "50" "1" "154558759" "154558759" "subst" "0" "02325" "ADAR_000094" "g.154558759T>C" "" "" "" "ADAR(NM_001111.5):c.3100A>G (p.M1034V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882801" "0" "50" "1" "154561131" "154561131" "subst" "0" "02325" "ADAR_000095" "g.154561131T>G" "" "" "" "ADAR(NM_001111.5):c.2781A>C (p.L927F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882802" "0" "50" "1" "154562778" "154562778" "subst" "2.84264E-5" "02325" "ADAR_000096" "g.154562778A>G" "" "" "" "ADAR(NM_001111.5):c.2378T>C (p.I793T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882803" "0" "30" "1" "154562900" "154562900" "subst" "0" "02326" "ADAR_000097" "g.154562900A>G" "" "" "" "ADAR(NM_001111.5):c.2271-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882804" "0" "30" "1" "154573723" "154573723" "subst" "0" "02326" "ADAR_000098" "g.154573723A>G" "" "" "" "ADAR(NM_001111.5):c.1395T>C (p.S465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882805" "0" "10" "1" "154573967" "154573967" "subst" "0.703499" "02329" "ADAR_000036" "g.154573967T>C" "" "" "" "ADAR(NM_001193495.2):c.266A>G (p.K89R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882806" "0" "10" "1" "154574820" "154574820" "subst" "0.998899" "02329" "ADAR_000043" "g.154574820T>C" "" "" "" "ADAR(NM_001111.5):c.298A>G (p.R100G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882807" "0" "50" "1" "154574954" "154574954" "subst" "0.000113764" "02325" "ADAR_000083" "g.154574954G>A" "" "" "" "ADAR(NM_001111.5):c.164C>T (p.P55L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882808" "0" "10" "1" "154575040" "154575040" "subst" "0.999235" "02329" "ADAR_000045" "g.154575040C>T" "" "" "" "ADAR(NM_001111.5):c.78G>A (p.R26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910781" "0" "10" "1" "154561925" "154561925" "subst" "0.271046" "02329" "ADAR_000016" "g.154561925C>T" "" "" "" "ADAR(NM_001193495.2):c.1797G>A (p.V599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910782" "0" "30" "1" "154569591" "154569591" "subst" "0.000386053" "02326" "ADAR_000099" "g.154569591C>T" "" "" "" "ADAR(NM_001111.5):c.2079+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910783" "0" "10" "1" "154580458" "154580458" "subst" "0.241241" "02329" "ADAR_000046" "g.154580458C>A" "" "" "" "ADAR(NM_001111.5):c.15+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000922959" "0" "30" "1" "154562651" "154562651" "subst" "0.000414376" "02326" "ADAR_000082" "g.154562651C>T" "" "" "" "ADAR(NM_001111.5):c.2496+9G>A, ADAR(NM_001193495.2):c.1611+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922960" "0" "30" "1" "154570393" "154570393" "subst" "8.93474E-5" "02326" "ADAR_000100" "g.154570393G>A" "" "" "" "ADAR(NM_001111.5):c.1845C>T (p.P615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922961" "0" "30" "1" "154573960" "154573960" "subst" "1.21841E-5" "02326" "ADAR_000101" "g.154573960G>A" "" "" "" "ADAR(NM_001111.5):c.1158C>T (p.N386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928019" "0" "90" "1" "154560601" "154560601" "subst" "0" "02326" "ADAR_000005" "g.154560601C>T" "" "" "" "ADAR(NM_001111.5):c.3019G>A (p.G1007R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928020" "0" "30" "1" "154571067" "154571067" "subst" "1.21894E-5" "02326" "ADAR_000102" "g.154571067C>T" "" "" "" "ADAR(NM_001111.5):c.1602-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946985" "0" "50" "1" "154557421" "154557421" "del" "0" "02327" "ADAR_000103" "g.154557421del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946986" "0" "50" "1" "154557443" "154557443" "subst" "0" "02327" "ADAR_000104" "g.154557443G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960534" "0" "10" "1" "154570903" "154570903" "subst" "0.00344046" "02326" "ADAR_000105" "g.154570903T>C" "" "" "" "ADAR(NM_001111.5):c.1760A>G (p.Y587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973346" "0" "30" "1" "154557440" "154557440" "subst" "0.000987869" "01804" "ADAR_000072" "g.154557440T>G" "" "" "" "ADAR(NM_001111.5):c.3523A>C (p.(Arg1175=)), ADAR(NM_001193495.2):c.2638A>C (p.R880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973347" "0" "30" "1" "154570296" "154570296" "subst" "0.00021933" "01804" "ADAR_000027" "g.154570296G>A" "" "" "" "ADAR(NM_001111.5):c.1934+8C>T, ADAR(NM_001193495.2):c.1049+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973348" "0" "50" "1" "154573673" "154573673" "subst" "0" "01804" "ADAR_000106" "g.154573673A>G" "" "" "" "ADAR(NM_001111.5):c.1445T>C (p.(Phe482Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973349" "0" "90" "1" "154574541" "154574541" "subst" "0.00220524" "01804" "ADAR_000001" "g.154574541G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.P193A, p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990370" "0" "70" "1" "154557407" "154557407" "subst" "0" "02327" "ADAR_000107" "g.154557407T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990371" "0" "50" "1" "154557490" "154557490" "subst" "0" "02325" "ADAR_000108" "g.154557490T>C" "" "" "" "ADAR(NM_001111.5):c.3473A>G (p.K1158R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990372" "0" "50" "1" "154558261" "154558261" "subst" "0" "01804" "ADAR_000109" "g.154558261G>C" "" "" "" "ADAR(NM_001111.4):c.3283C>G (p.(Leu1095Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990373" "0" "50" "1" "154561108" "154561108" "subst" "8.12995E-6" "01804" "ADAR_000110" "g.154561108G>A" "" "" "" "ADAR(NM_001111.4):c.2804C>T (p.(Ala935Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990374" "0" "50" "1" "154561127" "154561127" "subst" "0" "01804" "ADAR_000111" "g.154561127T>G" "" "" "" "ADAR(NM_001111.4):c.2785A>C (p.(Lys929Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990375" "0" "30" "1" "154561852" "154561852" "subst" "0" "01804" "ADAR_000112" "g.154561852A>G" "" "" "" "ADAR(NM_001193495.1):c.1870T>C (p.(Ser624Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990376" "0" "30" "1" "154573527" "154573527" "subst" "0" "01804" "ADAR_000113" "g.154573527G>C" "" "" "" "ADAR(NM_001193495.1):c.706C>G (p.(Pro236Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990377" "0" "50" "1" "154574418" "154574418" "subst" "0" "01804" "ADAR_000114" "g.154574418A>C" "" "" "" "ADAR(NM_001111.4):c.700T>G (p.(Ser234Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990378" "0" "30" "1" "154574444" "154574444" "subst" "8.12229E-6" "01804" "ADAR_000115" "g.154574444G>A" "" "" "" "ADAR(NM_001111.4):c.674C>T (p.(Pro225Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020150" "0" "50" "1" "154557457" "154557468" "delins" "0" "03544" "ADAR_000116" "g.154557457_154557468delinsG" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.154584981_154584992delinsG" "" "likely pathogenic" "ACMG" "0001024031" "0" "10" "1" "154570903" "154570903" "subst" "0.00344046" "02327" "ADAR_000105" "g.154570903T>C" "" "" "" "ADAR(NM_001111.5):c.1760A>G (p.Y587C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031299" "0" "50" "1" "154573968" "154573968" "del" "0" "01804" "ADAR_000117" "g.154573968del" "" "" "" "ADAR(NM_001111.5):c.1153del (p.(Arg385Glufs*20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031300" "0" "50" "1" "154580480" "154580480" "subst" "0" "01804" "ADAR_000118" "g.154580480C>A" "" "" "" "ADAR(NM_001111.5):c.3G>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031301" "0" "90" "1" "154602065" "154602065" "subst" "0" "01804" "ADAR_000119" "g.154602065G>C" "" "" "" "ADAR(NM_001111.5):c.577C>G (p.(Pro193Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045593" "0" "50" "1" "154570392" "154570392" "subst" "8.12249E-5" "02325" "ADAR_000120" "g.154570392C>T" "" "" "" "ADAR(NM_001111.5):c.1846G>A (p.V616I)" "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 ADAR ## Count = 161 "{{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}}" "0000089353" "00002115" "77" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089354" "00002115" "77" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089355" "00002115" "79" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(Asp1113His)" "14" "0000089356" "00002115" "79" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "11" "0000089357" "00002115" "79" "3335" "0" "3335" "0" "c.3335A>T" "r.(?)" "p.(Tyr1112Phe)" "14" "0000089358" "00002115" "79" "2997" "0" "2997" "0" "c.2997G>T" "r.(?)" "p.(Lys999Asn)" "11" "0000089359" "00002115" "79" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089360" "00002115" "79" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089361" "00002115" "77" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089362" "00002115" "77" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "2" "0000089363" "00002115" "50" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "11" "0000089409" "00002115" "77" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "9" "0000089410" "00002115" "77" "2608" "0" "2608" "0" "c.2608G>A" "r.(?)" "p.(Ala870Thr)" "8" "0000089411" "00002115" "79" "3337" "0" "3337" "0" "c.3337G>C" "r.(?)" "p.(Asp1113His)" "14" "0000089412" "00002115" "79" "1076" "0" "1080" "0" "c.1076_1080del" "r.(?)" "p.(Lys359Argfs*14)" "2" "0000089413" "00002115" "79" "26615" "0" "26615" "0" "c.26615T>C" "r.(?)" "p.(Ile872Thr)" "15" "0000089414" "00002115" "77" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "9" "0000089415" "00002115" "77" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "9" "0000248111" "00002115" "30" "1926" "0" "1926" "0" "c.1926T>C" "r.(?)" "p.(His642=)" "" "0000248963" "00002115" "10" "-19890" "0" "-19890" "0" "c.-19890T>C" "r.(?)" "p.(=)" "" "0000249488" "00002115" "30" "2080" "-5" "2080" "-5" "c.2080-5T>C" "r.spl?" "p.?" "" "0000252003" "00002115" "30" "-19896" "0" "-19896" "0" "c.-19896T>G" "r.(?)" "p.(=)" "" "0000254101" "00002115" "30" "1926" "0" "1926" "0" "c.1926T>C" "r.(?)" "p.(His642=)" "" "0000255182" "00002115" "30" "2668" "6" "2668" "6" "c.2668+6T>C" "r.(=)" "p.(=)" "" "0000258952" "00002115" "10" "15" "10" "15" "10" "c.15+10G>T" "r.(=)" "p.(=)" "" "0000258953" "00002115" "10" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(Val894=)" "" "0000258954" "00002115" "10" "3443" "8" "3443" "8" "c.3443+8G>A" "r.(=)" "p.(=)" "" "0000258955" "00002115" "10" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Lys384Arg)" "" "0000258956" "00002115" "10" "298" "0" "298" "0" "c.298=" "r.(=)" "p.(Gly100=)" "" "0000258957" "00002115" "10" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Arg26=)" "" "0000259408" "00002115" "30" "1934" "8" "1934" "8" "c.1934+8C>T" "r.(=)" "p.(=)" "" "0000259409" "00002115" "30" "1935" "-20" "1935" "-20" "c.1935-20C>T" "r.(=)" "p.(=)" "" "0000259410" "00002115" "30" "2079" "19" "2079" "19" "c.2079+19C>T" "r.(=)" "p.(=)" "" "0000259411" "00002115" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000259412" "00002115" "30" "2553" "0" "2553" "0" "c.2553C>T" "r.(?)" "p.(Cys851=)" "" "0000259413" "00002115" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Asn1006=)" "" "0000259414" "00002115" "30" "3019" "19" "3019" "19" "c.3019+19C>T" "r.(=)" "p.(=)" "" "0000259415" "00002115" "30" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467His)" "" "0000259416" "00002115" "30" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Asn173Ser)" "" "0000259417" "00002115" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Pro225=)" "" "0000259418" "00002115" "30" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asn542Ser)" "" "0000259419" "00002115" "30" "748" "0" "748" "0" "c.748G>T" "r.(?)" "p.(Ala250Ser)" "" "0000259420" "00002115" "30" "1725" "0" "1725" "0" "c.1725C>T" "r.(?)" "p.(Ala575=)" "" "0000259629" "00002115" "50" "3623" "0" "3623" "0" "c.3623A>G" "r.(?)" "p.(Tyr1208Cys)" "" "0000259630" "00002115" "50" "1465" "0" "1465" "0" "c.1465C>T" "r.(?)" "p.(Arg489Trp)" "" "0000259631" "00002115" "50" "696" "0" "696" "0" "c.696A>C" "r.(?)" "p.(Arg232Ser)" "" "0000259632" "00002115" "50" "1687" "0" "1687" "0" "c.1687A>G" "r.(?)" "p.(Met563Val)" "" "0000260609" "00002115" "30" "2668" "20" "2668" "20" "c.2668+20A>C" "r.(=)" "p.(=)" "" "0000260610" "00002115" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Asn1006=)" "" "0000261968" "00002115" "30" "2549" "0" "2549" "0" "c.2549G>A" "r.(?)" "p.(Arg850Gln)" "" "0000261969" "00002115" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Asn1006=)" "" "0000261970" "00002115" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Thr375=)" "" "0000261971" "00002115" "30" "2649" "0" "2649" "0" "c.2649C>T" "r.(?)" "p.(Val883=)" "" "0000261972" "00002115" "30" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(His586Arg)" "" "0000321010" "00002115" "50" "3298" "0" "3298" "0" "c.3298A>G" "r.(?)" "p.(Ile1100Val)" "" "0000321011" "00002115" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Asn1006=)" "" "0000321014" "00002115" "50" "1042" "0" "1042" "0" "c.1042A>G" "r.(?)" "p.(Thr348Ala)" "" "0000339488" "00002115" "10" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(Val894=)" "" "0000341643" "00002115" "50" "2908" "0" "2908" "0" "c.2908G>A" "r.(?)" "p.(Ala970Thr)" "" "0000343480" "00002115" "50" "2746" "0" "2746" "0" "c.2746C>T" "r.(?)" "p.(Arg916Trp)" "" "0000348259" "00002115" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000442740" "00002115" "50" "2531" "0" "2531" "0" "c.2531T>A" "r.(?)" "p.Ile844Lys" "" "0000473811" "00002115" "90" "271" "0" "272" "0" "c.271_272del" "r.0?" "p.0?" "2" "0000473812" "00002115" "90" "556" "0" "556" "0" "c.556C>T" "r.0?" "p.0?" "2" "0000474357" "00002115" "90" "3001" "0" "3001" "0" "c.3001C>T" "r.(?)" "p.(Arg1001Cys)" "" "0000474358" "00002115" "90" "1937" "0" "1938" "0" "c.1937_1938insGT" "r.(?)" "p.(Phe646Leufs*16)" "" "0000474359" "00002115" "90" "1069" "0" "1072" "0" "c.1069_1072del" "r.(?)" "p.(Asp357Argfs*47)" "" "0000474360" "00002115" "90" "1601" "0" "1601" "0" "c.1601G>A" "r.1412_1601del" "p.Gly471Aspfs*30" "" "0000474361" "00002115" "90" "2744" "0" "2744" "0" "c.2744C>T" "r.(?)" "p.(Ser915Phe)" "" "0000474362" "00002115" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155Trp)" "" "0000503510" "00002115" "50" "3623" "0" "3623" "0" "c.3623A>G" "r.(?)" "p.(Tyr1208Cys)" "" "0000503511" "00002115" "50" "3305" "0" "3305" "0" "c.3305A>G" "r.(?)" "p.(Asn1102Ser)" "" "0000503512" "00002115" "30" "3238" "0" "3238" "0" "c.3238A>G" "r.(?)" "p.(Ile1080Val)" "" "0000503513" "00002115" "30" "2668" "6" "2668" "6" "c.2668+6T>C" "r.(=)" "p.(=)" "" "0000503514" "00002115" "10" "2553" "0" "2553" "0" "c.2553C>T" "r.(?)" "p.(Cys851=)" "" "0000503515" "00002115" "50" "2537" "0" "2537" "0" "c.2537T>C" "r.(?)" "p.(Met846Thr)" "" "0000503516" "00002115" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000503517" "00002115" "90" "2184" "0" "2185" "0" "c.2184_2185insA" "r.(?)" "p.(Gly729ArgfsTer15)" "" "0000503518" "00002115" "30" "1926" "0" "1926" "0" "c.1926T>C" "r.(?)" "p.(His642=)" "" "0000503519" "00002115" "30" "1766" "0" "1766" "0" "c.1766C>G" "r.(?)" "p.(Thr589Arg)" "" "0000503520" "00002115" "30" "1725" "0" "1725" "0" "c.1725C>T" "r.(?)" "p.(Ala575=)" "" "0000503521" "00002115" "30" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asn542Ser)" "" "0000503522" "00002115" "30" "1625" "0" "1625" "0" "c.1625A>G" "r.(?)" "p.(Asn542Ser)" "" "0000503523" "00002115" "30" "1518" "0" "1518" "0" "c.1518C>T" "r.(?)" "p.(Ser506=)" "" "0000503524" "00002115" "30" "1003" "0" "1003" "0" "c.1003A>T" "r.(?)" "p.(Ile335Phe)" "" "0000503525" "00002115" "50" "989" "0" "989" "0" "c.989T>C" "r.(?)" "p.(Ile330Thr)" "" "0000503526" "00002115" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Pro225=)" "" "0000503527" "00002115" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Pro193Ser)" "" "0000503528" "00002115" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000503529" "00002115" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000503530" "00002115" "90" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000503531" "00002115" "30" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174Gln)" "" "0000503532" "00002115" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Arg)" "" "0000503533" "00002115" "30" "9" "0" "9" "0" "c.9G>A" "r.(?)" "p.(Pro3=)" "" "0000604835" "00002115" "30" "3523" "0" "3523" "0" "c.3523A>C" "r.(?)" "p.(Arg1175=)" "" "0000604836" "00002115" "50" "3415" "0" "3415" "0" "c.3415C>G" "r.(?)" "p.(Leu1139Val)" "" "0000604837" "00002115" "50" "3203" "0" "3203" "0" "c.3203G>T" "r.(?)" "p.(Gly1068Val)" "" "0000604838" "00002115" "30" "2762" "6" "2762" "6" "c.2762+6C>T" "r.(=)" "p.(=)" "" "0000604839" "00002115" "50" "2158" "0" "2158" "0" "c.2158G>T" "r.(?)" "p.(Val720Leu)" "" "0000604841" "00002115" "50" "905" "0" "905" "0" "c.905A>C" "r.(?)" "p.(Lys302Thr)" "" "0000604842" "00002115" "30" "192" "0" "192" "0" "c.192G>A" "r.(?)" "p.(Leu64=)" "" "0000620402" "00002115" "30" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Arg)" "" "0000620403" "00002115" "50" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Val97Met)" "" "0000629271" "00002115" "90" "3202" "1" "3202" "1" "c.3202+1G>A" "r.spl?" "p.?" "" "0000629338" "00002115" "90" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000647384" "00002115" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000653774" "00002115" "30" "2496" "9" "2496" "9" "c.2496+9G>A" "r.(=)" "p.(=)" "" "0000653775" "00002115" "50" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Val759Ile)" "" "0000653776" "00002115" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "0000668963" "00002115" "50" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000687890" "00002115" "30" "2079" "7" "2079" "7" "c.2079+7C>T" "r.(=)" "p.(=)" "" "0000786724" "00002115" "70" "788" "0" "791" "0" "c.788_791del" "r.(?)" "p.(Asp263ValfsTer31)" "2" "0000787190" "00002115" "50" "524" "0" "524" "0" "c.524T>A" "r.(?)" "p.(Val175Asp)" "2" "0000798805" "00002115" "30" "2052" "0" "2052" "0" "c.2052G>A" "r.(?)" "p.(Ala684=)" "" "0000798806" "00002115" "30" "1935" "-19" "1935" "-19" "c.1935-19G>A" "r.(=)" "p.(=)" "" "0000798807" "00002115" "90" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360*)" "" "0000848317" "00002115" "30" "2886" "-11" "2886" "-10" "c.2886-11_2886-10del" "r.(=)" "p.(=)" "" "0000848318" "00002115" "30" "1935" "-20" "1935" "-20" "c.1935-20C>T" "r.(=)" "p.(=)" "" "0000857033" "00002115" "30" "2107" "0" "2107" "0" "c.2107G>C" "r.(?)" "p.(Asp703His)" "" "0000857034" "00002115" "30" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Gly258Arg)" "" "0000882798" "00002115" "10" "3443" "8" "3443" "8" "c.3443+8G>A" "r.(=)" "p.(=)" "" "0000882799" "00002115" "50" "3328" "0" "3328" "0" "c.3328A>G" "r.(?)" "p.(Ser1110Gly)" "" "0000882800" "00002115" "50" "3100" "0" "3100" "0" "c.3100A>G" "r.(?)" "p.(Met1034Val)" "" "0000882801" "00002115" "50" "2781" "0" "2781" "0" "c.2781A>C" "r.(?)" "p.(Leu927Phe)" "" "0000882802" "00002115" "50" "2378" "0" "2378" "0" "c.2378T>C" "r.(?)" "p.(Ile793Thr)" "" "0000882803" "00002115" "30" "2271" "-15" "2271" "-15" "c.2271-15T>C" "r.(=)" "p.(=)" "" "0000882804" "00002115" "30" "1395" "0" "1395" "0" "c.1395T>C" "r.(?)" "p.(Ser465=)" "" "0000882805" "00002115" "10" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Lys384Arg)" "" "0000882806" "00002115" "10" "298" "0" "298" "0" "c.298=" "r.(=)" "p.(Gly100=)" "" "0000882807" "00002115" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "0000882808" "00002115" "10" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Arg26=)" "" "0000910781" "00002115" "10" "2682" "0" "2682" "0" "c.2682G>A" "r.(?)" "p.(Val894=)" "" "0000910782" "00002115" "30" "2079" "8" "2079" "8" "c.2079+8G>A" "r.(=)" "p.(=)" "" "0000910783" "00002115" "10" "15" "10" "15" "10" "c.15+10G>T" "r.(=)" "p.(=)" "" "0000922959" "00002115" "30" "2496" "9" "2496" "9" "c.2496+9G>A" "r.(=)" "p.(=)" "" "0000922960" "00002115" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Pro615=)" "" "0000922961" "00002115" "30" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Asn386=)" "" "0000928019" "00002115" "90" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Gly1007Arg)" "" "0000928020" "00002115" "30" "1602" "-6" "1602" "-6" "c.1602-6G>A" "r.(=)" "p.(=)" "" "0000946985" "00002115" "50" "3543" "0" "3543" "0" "c.3543del" "r.(?)" "p.(Tyr1182Metfs*22)" "" "0000946986" "00002115" "50" "3520" "0" "3520" "0" "c.3520C>T" "r.(?)" "p.(Arg1174Cys)" "" "0000960534" "00002115" "10" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(Tyr587Cys)" "" "0000973346" "00002115" "30" "3523" "0" "3523" "0" "c.3523A>C" "r.(?)" "p.(Arg1175=)" "" "0000973347" "00002115" "30" "1934" "8" "1934" "8" "c.1934+8C>T" "r.(=)" "p.(=)" "" "0000973348" "00002115" "50" "1445" "0" "1445" "0" "c.1445T>C" "r.(?)" "p.(Phe482Ser)" "" "0000973349" "00002115" "90" "577" "0" "577" "0" "c.577C>G" "r.(?)" "p.(Pro193Ala)" "" "0000990370" "00002115" "70" "3556" "0" "3556" "0" "c.3556A>G" "r.(?)" "p.(Lys1186Glu)" "" "0000990371" "00002115" "50" "3473" "0" "3473" "0" "c.3473A>G" "r.(?)" "p.(Lys1158Arg)" "" "0000990372" "00002115" "50" "3283" "0" "3283" "0" "c.3283C>G" "r.(?)" "p.(Leu1095Val)" "" "0000990373" "00002115" "50" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Ala935Val)" "" "0000990374" "00002115" "50" "2785" "0" "2785" "0" "c.2785A>C" "r.(?)" "p.(Lys929Gln)" "" "0000990375" "00002115" "30" "2755" "0" "2755" "0" "c.2755T>C" "r.(?)" "p.(Phe919Leu)" "" "0000990376" "00002115" "30" "1591" "0" "1591" "0" "c.1591C>G" "r.(?)" "p.(His531Asp)" "" "0000990377" "00002115" "50" "700" "0" "700" "0" "c.700T>G" "r.(?)" "p.(Ser234Ala)" "" "0000990378" "00002115" "30" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "" "0001020150" "00002115" "50" "3495" "0" "3506" "0" "c.3495_3506delinsC" "r.(?)" "p.(Lys1166Leufs*15)" "15" "0001024031" "00002115" "10" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(Tyr587Cys)" "" "0001031299" "00002115" "50" "1153" "0" "1153" "0" "c.1153del" "r.(?)" "p.(Arg385Glufs*20)" "" "0001031300" "00002115" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.?" "" "0001031301" "00002115" "90" "-21583" "0" "-21583" "0" "c.-21583C>G" "r.(?)" "p.(=)" "" "0001045593" "00002115" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Val616Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000058753" "0000089353" "0000058753" "0000089409" "0000058754" "0000089354" "0000058754" "0000089410" "0000058755" "0000089355" "0000058755" "0000089411" "0000058756" "0000089356" "0000058757" "0000089357" "0000058758" "0000089358" "0000058759" "0000089359" "0000058759" "0000089412" "0000058760" "0000089360" "0000058760" "0000089413" "0000058761" "0000089361" "0000058761" "0000089414" "0000058762" "0000089362" "0000058762" "0000089415" "0000058763" "0000089363" "0000211270" "0000442740" "0000231739" "0000473811" "0000231740" "0000473812" "0000232045" "0000474357" "0000232046" "0000474358" "0000232047" "0000474359" "0000232048" "0000474360" "0000232049" "0000474361" "0000232050" "0000474362" "0000275307" "0000629271" "0000275307" "0000629338" "0000290695" "0000647384" "0000305275" "0000668963" "0000375373" "0000786724" "0000375839" "0000787190" "0000461059" "0001020150"