### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRB2) # 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}}" "CRB2" "crumbs homolog 2 (Drosophila)" "9" "q33.2" "unknown" "NC_000009.11" "UD_132610037944" "" "http://www.LOVD.nl/CRB2" "" "1" "18688" "286204" "609720" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CRB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-14 20:16:47" "00000" "2026-01-20 18:57:21" ## 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}}" "00005648" "CRB2" "crumbs homolog 2 (Drosophila)" "001" "NM_173689.5" "" "NP_775960.4" "" "" "" "-92" "5549" "3858" "126118448" "126141032" "" "0000-00-00 00:00:00" "" "" ## 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" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "04431" "FSGS9" "glomerulosclerosis, focal segmental, type 9 (FSGS-9)" "AR" "616220" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "04432" "VMCKD" "ventriculomegaly with cystic kidney disease (VMCKD)" "AR" "219730" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CRB2" "04431" "CRB2" "04432" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00032334" "" "" "" "2" "" "00006" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00032335" "" "" "" "1" "" "00006" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "patient, unaffected heterozygous carrier mother" "" "no" "United States" "" "0" "" "" "European" "" "00032336" "" "" "" "1" "" "00006" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "patient, unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "" "00032337" "" "" "" "1" "" "00006" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "patient, unaffected heterozygous carrier parents" "" "yes" "" "" "0" "" "" "European (Western)" "" "00032338" "" "" "" "2" "" "00006" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "2 fetuses, unaffected heterozygous carrier parents" "" "no" "United States" "<00y00m00d" "0" "" "" "Austria;Germany;Scotland;Jewish-Ashkenazi" "" "00032339" "" "" "" "3" "" "00006" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "3 fetuses, unaffected heterozygous carrier parents" "" "no" "United States" "" "0" "" "" "Jewish-Ashkenazi;Jewish-Sephardic" "" "00032340" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "patient, unaffected heterozygous carrier parents" "" "?" "United States" "00y07m" "0" "" "" "" "" "00164992" "" "" "" "1" "" "00678" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "F" "?" "United States" "" "0" "No" "" "" "" "00164993" "" "" "" "1" "" "00678" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "M" "?" "United States" "" "0" "" "" "" "" "00164994" "" "" "" "2" "" "00678" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "-" "?" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00032334" "00399" "00032335" "00399" "00032336" "00399" "00032337" "00399" "00032338" "00198" "00032339" "00198" "00032340" "00198" "00164992" "00198" "00164993" "00198" "00164994" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 04431, 04432 ## Count = 7 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000025800" "00399" "00032334" "00006" "Isolated (sporadic)" "" "see paper; steroid-resistant nephrotic syndrome (SRNS), renal histology of focal segmental glomerulosclerosis, .." "" "" "" "" "" "" "" "" "" "" "0000025801" "00399" "00032335" "00006" "Isolated (sporadic)" "" "see paper; steroid-resistant nephrotic syndrome (SRNS), .." "" "" "" "" "" "" "" "" "" "" "0000025802" "00399" "00032336" "00006" "Isolated (sporadic)" "" "see paper; steroid-resistant nephrotic syndrome (SRNS), .." "" "" "" "" "" "" "" "" "" "" "0000025803" "00399" "00032337" "00006" "Isolated (sporadic)" "" "see paper; steroid-resistant nephrotic syndrome (SRNS), .." "" "" "" "" "" "" "" "" "" "" "0000025804" "00198" "00032338" "00006" "Isolated (sporadic)" "<00y00m00d" "see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis" "" "" "" "" "" "" "" "" "" "" "0000025805" "00198" "00032339" "00006" "Isolated (sporadic)" "<00y00m00d" "see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .." "" "" "" "" "" "" "" "" "" "" "0000025806" "00198" "00032340" "00006" "Isolated (sporadic)" "" "see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .." "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000032401" "00032334" "1" "00006" "00006" "2015-02-14 20:25:07" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000032402" "00032335" "1" "00006" "00006" "2015-02-14 20:35:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000032403" "00032336" "1" "00006" "00006" "2015-02-14 20:42:14" "" "" "SEQ" "DNA" "" "" "0000032404" "00032337" "1" "00006" "00006" "2015-02-14 20:45:51" "" "" "SEQ" "DNA" "" "" "0000032405" "00032338" "1" "00006" "00006" "2015-02-14 20:58:38" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000032406" "00032339" "1" "00006" "00006" "2015-02-14 21:06:57" "" "" "SEQ" "DNA" "" "" "0000032407" "00032340" "1" "00006" "00006" "2015-02-14 21:15:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165862" "00164992" "1" "00678" "00678" "2016-01-25 00:59:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000165863" "00164993" "1" "00678" "00678" "2016-01-25 01:15:08" "" "" "SEQ-NG" "DNA" "" "" "0000165864" "00164994" "1" "00678" "00678" "2016-01-25 01:23:47" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000032401" "CRB2" "0000032402" "CRB2" "0000032403" "CRB2" "0000032404" "CRB2" "0000032405" "CRB2" "0000032406" "CRB2" "0000032407" "CRB2" "0000032407" "NPHS1" "0000032407" "PKD1" "0000032407" "SRPX2" "0000165862" "CRB2" "0000165863" "CRB2" "0000165864" "CRB2" ## 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 = 137 "{{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}}" "0000058521" "3" "90" "9" "126133191" "126133191" "subst" "0" "00006" "CRB2_000001" "g.126133191G>C" "" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "" "" "homozygosity mapping, exome sequencing; not in>380 control chromosomes" "Germline" "yes" "" "0" "" "" "g.123370912G>C" "" "pathogenic" "" "0000058522" "21" "90" "9" "126133214" "126133214" "subst" "0" "00006" "CRB2_000002" "g.126133214C>T" "" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123370935C>T" "" "pathogenic" "" "0000058523" "10" "90" "9" "126135899" "126135914" "dup" "0" "00006" "CRB2_000003" "g.126135899_126135914dup" "" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "" "" "de novo in patient" "De novo" "yes" "" "0" "" "" "g.123373620_123373635dup" "" "pathogenic" "" "0000058524" "3" "90" "9" "126133218" "126133218" "subst" "0" "00006" "CRB2_000004" "g.126133218G>C" "" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123370939G>C" "" "pathogenic" "" "0000058525" "3" "90" "9" "126139229" "126139229" "subst" "0.00135347" "00006" "CRB2_000005" "g.126139229G>A" "" "{PMID:Ebarasi 2015:25557779}, {DOI:Ebarasi 2015:10.1016/j.ajhg.2014.11.014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123376950G>A" "" "pathogenic" "" "0000058526" "1" "90" "9" "126133698" "126133698" "subst" "8.18686E-6" "00006" "CRB2_000006" "g.126133698G>A" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123371419G>A" "" "pathogenic" "" "0000058527" "2" "90" "9" "126133821" "126133821" "subst" "0.000221005" "00006" "CRB2_000007" "g.126133821C>G" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123371542C>G" "" "pathogenic" "" "0000058528" "1" "90" "9" "126133349" "126133349" "subst" "9.44148E-5" "00006" "CRB2_000008" "g.126133349A>C" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123371070A>C" "" "pathogenic" "" "0000058529" "2" "90" "9" "126133821" "126133821" "subst" "0.000221005" "00006" "CRB2_000007" "g.126133821C>G" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123371542C>G" "" "pathogenic" "" "0000058530" "3" "90" "9" "126133229" "126133229" "subst" "4.13558E-6" "00006" "CRB2_000009" "g.126133229C>T" "" "{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123370950C>T" "" "pathogenic" "" "0000268566" "0" "90" "9" "126134464" "126134465" "del" "4.06233E-5" "02329" "CRB2_000027" "g.126134464_126134465del" "" "" "" "CRB2(NM_173689.7):c.2445_2446delCT (p.C816Ffs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123372185_123372186del" "" "pathogenic" "" "0000268567" "0" "70" "9" "126136030" "126136038" "del" "0" "02329" "CRB2_000037" "g.126136030_126136038del" "" "" "" "CRB2(NM_173689.7):c.3220_3228delCTCTTCGAC (p.L1074_D1076del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373751_123373759del" "" "likely pathogenic" "" "0000274391" "0" "30" "9" "126132568" "126132568" "subst" "0.00355415" "01943" "CRB2_000021" "g.126132568C>T" "" "" "" "CRB2(NM_173689.6):c.1236C>T (p.I412=), CRB2(NM_173689.7):c.1236C>T (p.I412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370289C>T" "" "likely benign" "" "0000274392" "0" "90" "9" "126132708" "126132708" "del" "0" "01943" "CRB2_000022" "g.126132708del" "" "" "" "CRB2(NM_173689.6):c.1376delT (p.L459Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370429del" "" "pathogenic" "" "0000274393" "0" "10" "9" "126125186" "126125186" "subst" "0.00212254" "01943" "CRB2_000017" "g.126125186C>T" "" "" "" "CRB2(NM_173689.5):c.137C>T (p.(Pro46Leu)), CRB2(NM_173689.6):c.137C>T (p.P46L), CRB2(NM_173689.7):c.137C>T (p.P46L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123362907C>T" "" "benign" "" "0000274394" "0" "50" "9" "126132728" "126132728" "subst" "2.03356E-5" "01943" "CRB2_000023" "g.126132728C>T" "" "" "" "CRB2(NM_173689.5):c.1396C>T (p.(Arg466Cys)), CRB2(NM_173689.6):c.1396C>T (p.R466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370449C>T" "" "VUS" "" "0000274395" "0" "30" "9" "126132760" "126132760" "subst" "0.00321652" "01943" "CRB2_000024" "g.126132760T>G" "" "" "" "CRB2(NM_173689.6):c.1428T>G (p.T476=), CRB2(NM_173689.7):c.1428T>G (p.T476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370481T>G" "" "likely benign" "" "0000274396" "0" "30" "9" "126132796" "126132796" "subst" "0.000561236" "01943" "CRB2_000025" "g.126132796G>A" "" "" "" "CRB2(NM_173689.6):c.1464G>A (p.L488=), CRB2(NM_173689.7):c.1464G>A (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370517G>A" "" "likely benign" "" "0000274397" "0" "50" "9" "126132826" "126132826" "subst" "0.000699312" "01943" "CRB2_000014" "g.126132826G>T" "" "" "" "CRB2(NM_173689.6):c.1494G>T (p.W498C), CRB2(NM_173689.7):c.1494G>T (p.W498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370547G>T" "" "VUS" "" "0000274398" "0" "30" "9" "126133803" "126133803" "subst" "9.40019E-5" "01943" "CRB2_000026" "g.126133803C>T" "" "" "" "CRB2(NM_173689.6):c.2382C>T (p.G794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123371524C>T" "" "likely benign" "" "0000274399" "0" "50" "9" "126134477" "126134482" "del" "0" "01943" "CRB2_000028" "g.126134477_126134482del" "" "" "" "CRB2(NM_173689.6):c.2458_2463delGGGACT (p.G820_T821del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123372198_123372203del" "" "VUS" "" "0000274400" "0" "30" "9" "126134488" "126134488" "subst" "0.000109671" "01943" "CRB2_000029" "g.126134488C>T" "" "" "" "CRB2(NM_173689.6):c.2469C>T (p.L823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123372209C>T" "" "likely benign" "" "0000274401" "0" "50" "9" "126135511" "126135511" "subst" "0" "01943" "CRB2_000030" "g.126135511C>T" "" "" "" "CRB2(NM_173689.6):c.2701C>T (p.R901C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373232C>T" "" "VUS" "" "0000274402" "0" "50" "9" "126135512" "126135512" "subst" "0" "01943" "CRB2_000031" "g.126135512G>A" "" "" "" "CRB2(NM_173689.6):c.2702G>A (p.R901H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373233G>A" "" "VUS" "" "0000274403" "0" "10" "9" "126135558" "126135558" "subst" "0.00461769" "01943" "CRB2_000032" "g.126135558C>T" "" "" "" "CRB2(NM_173689.6):c.2748C>T (p.A916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373279C>T" "" "benign" "" "0000274404" "0" "90" "9" "126135697" "126135698" "del" "0" "01943" "CRB2_000033" "g.126135697_126135698del" "" "" "" "CRB2(NM_173689.6):c.2887_2888delAT (p.M963Gfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373418_123373419del" "" "pathogenic" "" "0000274405" "0" "90" "9" "126135700" "126135715" "del" "0" "01943" "CRB2_000034" "g.126135700_126135715del" "" "" "" "CRB2(NM_173689.6):c.2890_2905delGAGCGCCCGGCGGCCA (p.E964Pfs*172)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373421_123373436del" "" "pathogenic" "" "0000274406" "0" "50" "9" "126135856" "126135856" "subst" "0" "01943" "CRB2_000035" "g.126135856C>T" "" "" "" "CRB2(NM_173689.6):c.3046C>T (p.R1016C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373577C>T" "" "VUS" "" "0000274407" "0" "50" "9" "126136084" "126136084" "subst" "4.38917E-5" "01943" "CRB2_000038" "g.126136084G>A" "" "" "" "CRB2(NM_173689.6):c.3274G>A (p.E1092K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373805G>A" "" "VUS" "" "0000274408" "0" "30" "9" "126125376" "126125376" "subst" "0.000177862" "01943" "CRB2_000018" "g.126125376C>T" "" "" "" "CRB2(NM_173689.6):c.327C>T (p.I109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123363097C>T" "" "likely benign" "" "0000274409" "0" "30" "9" "126128293" "126128293" "subst" "0.00120728" "01943" "CRB2_000020" "g.126128293C>T" "" "" "" "CRB2(NM_173689.6):c.516C>T (p.C172=), CRB2(NM_173689.7):c.516C>T (p.C172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123366014C>T" "" "likely benign" "" "0000274410" "0" "30" "9" "126118544" "126118544" "subst" "0.00298573" "01943" "CRB2_000016" "g.126118544C>T" "" "" "" "CRB2(NM_173689.6):c.5C>T (p.A2V), CRB2(NM_173689.7):c.5C>T (p.(Ala2Val), p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123356265C>T" "" "likely benign" "" "0000340617" "0" "10" "9" "126135831" "126135831" "subst" "0.100617" "02327" "CRB2_000046" "g.126135831T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373552T>C" "" "benign" "" "0000340618" "0" "10" "9" "126135936" "126135936" "subst" "0.168916" "02327" "CRB2_000047" "g.126135936G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373657G>C" "" "benign" "" "0000340970" "0" "10" "9" "126133497" "126133497" "subst" "0.257425" "02327" "CRB2_000043" "g.126133497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123371218C>T" "" "benign" "" "0000343351" "0" "90" "9" "126133732" "126133732" "subst" "2.44662E-5" "02327" "CRB2_000045" "g.126133732C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123371453C>T" "" "pathogenic" "" "0000345055" "0" "50" "9" "126136084" "126136084" "subst" "4.38917E-5" "02327" "CRB2_000038" "g.126136084G>A" "" "" "" "CRB2(NM_173689.6):c.3274G>A (p.E1092K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123373805G>A" "" "VUS" "" "0000345486" "0" "50" "9" "126125218" "126125218" "subst" "1.65087E-5" "02327" "CRB2_000039" "g.126125218G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123362939G>A" "" "VUS" "" "0000346168" "0" "50" "9" "126133046" "126133046" "subst" "0" "02327" "CRB2_000041" "g.126133046G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123370767G>T" "" "VUS" "" "0000349589" "0" "50" "9" "126133364" "126133364" "subst" "0" "02327" "CRB2_000042" "g.126133364C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123371085C>T" "" "VUS" "" "0000349654" "0" "10" "9" "126125318" "126125318" "subst" "0.999456" "02327" "CRB2_000040" "g.126125318C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123363039C>A" "" "benign" "" "0000350639" "0" "10" "9" "126133547" "126133547" "subst" "0.999403" "02327" "CRB2_000044" "g.126133547T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123371268T>C" "" "benign" "" "0000369622" "0" "70" "9" "126136101" "126136102" "del" "1.57876E-5" "00678" "CRB2_000010" "g.126136101_126136102del" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "3291_3292delCT" "" "Unknown" "yes" "" "0" "" "" "g.123373822_123373823del" "" "likely pathogenic" "" "0000369623" "21" "70" "9" "126136153" "126136153" "subst" "0" "00678" "CRB2_000011" "g.126136153C>T" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "3344C>T" "" "Germline" "yes" "" "0" "" "" "g.123373874C>T" "" "likely pathogenic" "" "0000369624" "0" "70" "9" "126136195" "126136195" "subst" "0" "00678" "CRB2_000013" "g.126136195T>C" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.123373916T>C" "" "likely pathogenic" "" "0000369625" "21" "70" "9" "126135914" "126135915" "ins" "0" "00678" "CRB2_000012" "g.126135914_126135915insCCGGCGCGGCCCCGGC" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "31085_31096insCCGGCGCGGCCCCGGC" "" "Germline" "yes" "" "0" "" "" "g.123373635_123373636insCCGGCGCGGCCCCGGC" "" "likely pathogenic" "" "0000369626" "3" "50" "9" "126132826" "126132826" "subst" "0.000699312" "00678" "CRB2_000014" "g.126132826G>T" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123370547G>T" "" "VUS" "" "0000369627" "3" "50" "9" "126136037" "126136037" "subst" "0" "00678" "CRB2_000015" "g.126136037A>C" "" "{PMID:Lamont 2016:27004616}, {DOI:Lamont 2016:10.1038/ejhg.2016.24}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123373758A>C" "" "VUS" "" "0000536226" "0" "30" "9" "126125327" "126125327" "subst" "0.00600689" "01804" "CRB2_000051" "g.126125327G>A" "" "" "" "CRB2(NM_173689.5):c.278G>A (p.(Arg93His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123363048G>A" "" "likely benign" "" "0000536227" "0" "90" "9" "126125449" "126125449" "dup" "0" "02329" "CRB2_000052" "g.126125449dup" "" "" "" "CRB2(NM_173689.7):c.400dupT (p.C134Lfs*148)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123363170dup" "" "pathogenic" "" "0000536228" "0" "50" "9" "126133082" "126133082" "subst" "6.26336E-5" "01943" "CRB2_000053" "g.126133082C>T" "" "" "" "CRB2(NM_173689.6):c.1750C>T (p.R584C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123370803C>T" "" "VUS" "" "0000536229" "0" "30" "9" "126133160" "126133160" "subst" "0.00672246" "01804" "CRB2_000054" "g.126133160C>T" "" "" "" "CRB2(NM_173689.5):c.1828C>T (p.(Arg610Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123370881C>T" "" "likely benign" "" "0000536230" "0" "30" "9" "126133684" "126133684" "subst" "0.000189288" "01943" "CRB2_000055" "g.126133684G>A" "" "" "" "CRB2(NM_173689.6):c.2263G>A (p.D755N), CRB2(NM_173689.7):c.2263G>A (p.(Asp755Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123371405G>A" "" "likely benign" "" "0000536231" "0" "30" "9" "126134566" "126134566" "subst" "0.000516609" "01943" "CRB2_000056" "g.126134566C>T" "" "" "" "CRB2(NM_173689.6):c.2547C>T (p.P849=), CRB2(NM_173689.7):c.2547C>T (p.P849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123372287C>T" "" "likely benign" "" "0000536232" "0" "30" "9" "126135490" "126135490" "subst" "0.0209463" "01804" "CRB2_000057" "g.126135490G>A" "" "" "" "CRB2(NM_173689.5):c.2680G>A (p.(Gly894Ser)), CRB2(NM_173689.7):c.2680G>A (p.G894S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373211G>A" "" "likely benign" "" "0000536233" "0" "10" "9" "126135490" "126135490" "subst" "0.0209463" "02326" "CRB2_000057" "g.126135490G>A" "" "" "" "CRB2(NM_173689.5):c.2680G>A (p.(Gly894Ser)), CRB2(NM_173689.7):c.2680G>A (p.G894S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373211G>A" "" "benign" "" "0000536234" "0" "30" "9" "126135658" "126135658" "subst" "0" "01804" "CRB2_000058" "g.126135658C>T" "" "" "" "CRB2(NM_173689.5):c.2848C>T (p.(Arg950Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373379C>T" "" "likely benign" "" "0000536235" "0" "30" "9" "126135697" "126135697" "subst" "0" "01943" "CRB2_000059" "g.126135697A>G" "" "" "" "CRB2(NM_173689.6):c.2887A>G (p.M963V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373418A>G" "" "likely benign" "" "0000536236" "0" "50" "9" "126135799" "126135799" "subst" "8.36162E-6" "01943" "CRB2_000060" "g.126135799C>T" "" "" "" "CRB2(NM_173689.6):c.2989C>T (p.Q997*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373520C>T" "" "VUS" "" "0000536239" "0" "30" "9" "126135938" "126135938" "subst" "0.00102119" "01804" "CRB2_000062" "g.126135938C>T" "" "" "" "CRB2(NM_173689.5):c.3128C>T (p.(Ser1043Phe)), CRB2(NM_173689.6):c.3128C>T (p.S1043F), CRB2(NM_173689.7):c.3128C>T (p.S1043F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373659C>T" "" "likely benign" "" "0000536240" "0" "50" "9" "126135995" "126136011" "dup" "0" "01943" "CRB2_000063" "g.126135995_126136011dup" "" "" "" "CRB2(NM_173689.6):c.3185_3201dupCCTCGCCCTGTCTGCAC (p.D1068Pfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373716_123373732dup" "" "VUS" "" "0000536242" "0" "50" "9" "126139329" "126139332" "del" "0" "01804" "CRB2_000049" "g.126139329_126139332del" "" "" "" "CRB2(NM_173689.5):c.3844_3847del (p.(Glu1282AspfsTer117))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123377050_123377053del" "" "VUS" "" "0000611846" "0" "30" "9" "126125203" "126125203" "subst" "8.26467E-6" "01943" "CRB2_000066" "g.126125203G>A" "" "" "" "CRB2(NM_173689.6):c.154G>A (p.E52K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123362924G>A" "" "likely benign" "" "0000611847" "0" "30" "9" "126133146" "126133146" "subst" "5.35173E-5" "01943" "CRB2_000067" "g.126133146G>A" "" "" "" "CRB2(NM_173689.6):c.1814G>A (p.R605H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123370867G>A" "" "likely benign" "" "0000611848" "0" "90" "9" "126135899" "126135914" "dup" "0" "01804" "CRB2_000003" "g.126135899_126135914dup" "" "" "" "CRB2(NM_173689.5):c.3089_3104dup (p.(Gly1036Alafs*43)), CRB2(NM_173689.7):c.3089_3104dupGGCCCGGCGCGGCCCC (p.G1036Afs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373620_123373635dup" "" "pathogenic" "" "0000622160" "0" "30" "9" "126135689" "126135689" "subst" "0" "01943" "CRB2_000068" "g.126135689G>A" "" "" "" "CRB2(NM_173689.6):c.2879G>A (p.R960H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373410G>A" "" "likely benign" "" "0000656215" "0" "30" "9" "126125147" "126125147" "subst" "1.73844E-5" "01943" "CRB2_000069" "g.126125147C>T" "" "" "" "CRB2(NM_173689.6):c.98C>T (p.T33M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123362868C>T" "" "likely benign" "" "0000656216" "0" "30" "9" "126135938" "126135938" "subst" "0.00102119" "02326" "CRB2_000062" "g.126135938C>T" "" "" "" "CRB2(NM_173689.5):c.3128C>T (p.(Ser1043Phe)), CRB2(NM_173689.6):c.3128C>T (p.S1043F), CRB2(NM_173689.7):c.3128C>T (p.S1043F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373659C>T" "" "likely benign" "" "0000656217" "0" "30" "9" "126136014" "126136014" "subst" "0.00114136" "01943" "CRB2_000070" "g.126136014C>T" "" "" "" "CRB2(NM_173689.6):c.3204C>T (p.D1068=), CRB2(NM_173689.7):c.3204C>T (p.D1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123373735C>T" "" "likely benign" "" "0000678519" "0" "30" "9" "126125186" "126125186" "subst" "0.00212254" "01804" "CRB2_000017" "g.126125186C>T" "" "" "" "CRB2(NM_173689.5):c.137C>T (p.(Pro46Leu)), CRB2(NM_173689.6):c.137C>T (p.P46L), CRB2(NM_173689.7):c.137C>T (p.P46L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690395" "0" "30" "9" "126118544" "126118544" "subst" "0.00298573" "02326" "CRB2_000016" "g.126118544C>T" "" "" "" "CRB2(NM_173689.6):c.5C>T (p.A2V), CRB2(NM_173689.7):c.5C>T (p.(Ala2Val), p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690396" "0" "30" "9" "126129551" "126129551" "subst" "0.000210863" "01943" "CRB2_000071" "g.126129551C>T" "" "" "" "CRB2(NM_173689.6):c.855C>T (p.Y285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690397" "0" "70" "9" "126133698" "126133698" "subst" "8.18686E-6" "01943" "CRB2_000006" "g.126133698G>A" "" "" "" "CRB2(NM_173689.6):c.2277G>A (p.W759*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690398" "0" "50" "9" "126135899" "126135914" "del" "0" "01943" "CRB2_000072" "g.126135899_126135914del" "" "" "" "CRB2(NM_173689.6):c.3089_3104delGGCCCGGCGCGGCCCC (p.R1030Lfs*106)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690399" "0" "30" "9" "126135938" "126135938" "subst" "0.00102119" "01943" "CRB2_000062" "g.126135938C>T" "" "" "" "CRB2(NM_173689.5):c.3128C>T (p.(Ser1043Phe)), CRB2(NM_173689.6):c.3128C>T (p.S1043F), CRB2(NM_173689.7):c.3128C>T (p.S1043F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690400" "0" "30" "9" "126136135" "126136135" "subst" "0.00117908" "02326" "CRB2_000073" "g.126136135C>G" "" "" "" "CRB2(NM_173689.7):c.3325C>G (p.H1109D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690401" "0" "30" "9" "126136934" "126136934" "subst" "0.00198328" "02326" "CRB2_000064" "g.126136934G>A" "" "" "" "CRB2(NM_173689.7):c.3466G>A (p.A1156T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722253" "0" "30" "9" "126128245" "126128245" "subst" "0.000509067" "01943" "CRB2_000074" "g.126128245G>A" "" "" "" "CRB2(NM_173689.6):c.468G>A (p.L156=), CRB2(NM_173689.7):c.468G>A (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722254" "0" "30" "9" "126128293" "126128293" "subst" "0.00120728" "02326" "CRB2_000020" "g.126128293C>T" "" "" "" "CRB2(NM_173689.6):c.516C>T (p.C172=), CRB2(NM_173689.7):c.516C>T (p.C172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722255" "0" "30" "9" "126132568" "126132568" "subst" "0.00355415" "02326" "CRB2_000021" "g.126132568C>T" "" "" "" "CRB2(NM_173689.6):c.1236C>T (p.I412=), CRB2(NM_173689.7):c.1236C>T (p.I412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722256" "0" "30" "9" "126132598" "126132598" "subst" "4.0658E-5" "01943" "CRB2_000075" "g.126132598C>T" "" "" "" "CRB2(NM_173689.6):c.1266C>T (p.Y422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722257" "0" "30" "9" "126132760" "126132760" "subst" "0.00321652" "02326" "CRB2_000024" "g.126132760T>G" "" "" "" "CRB2(NM_173689.6):c.1428T>G (p.T476=), CRB2(NM_173689.7):c.1428T>G (p.T476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722258" "0" "30" "9" "126133269" "126133269" "subst" "0.00411916" "02326" "CRB2_000076" "g.126133269A>T" "" "" "" "CRB2(NM_173689.7):c.1927+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722259" "0" "10" "9" "126134542" "126134542" "subst" "0.448345" "02327" "CRB2_000077" "g.126134542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722260" "0" "90" "9" "126134549" "126134549" "subst" "0" "02327" "CRB2_000078" "g.126134549C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722261" "0" "90" "9" "126135899" "126135914" "dup" "0" "02329" "CRB2_000003" "g.126135899_126135914dup" "" "" "" "CRB2(NM_173689.5):c.3089_3104dup (p.(Gly1036Alafs*43)), CRB2(NM_173689.7):c.3089_3104dupGGCCCGGCGCGGCCCC (p.G1036Afs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803863" "0" "30" "9" "126129980" "126129980" "subst" "0.00055309" "02326" "CRB2_000079" "g.126129980G>A" "" "" "" "CRB2(NM_173689.7):c.1054+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803864" "0" "30" "9" "126132661" "126132661" "subst" "7.31374E-5" "02326" "CRB2_000080" "g.126132661G>C" "" "" "" "CRB2(NM_173689.7):c.1329G>C (p.V443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803865" "0" "30" "9" "126133533" "126133533" "subst" "0.000613412" "02326" "CRB2_000081" "g.126133533G>A" "" "" "" "CRB2(NM_173689.7):c.2112G>A (p.R704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803866" "0" "30" "9" "126134566" "126134566" "subst" "0.000516609" "02326" "CRB2_000056" "g.126134566C>T" "" "" "" "CRB2(NM_173689.6):c.2547C>T (p.P849=), CRB2(NM_173689.7):c.2547C>T (p.P849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803867" "0" "50" "9" "126134586" "126134586" "subst" "0" "01943" "CRB2_000082" "g.126134586C>T" "" "" "" "CRB2(NM_173689.6):c.2567C>T (p.P856L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852094" "0" "10" "9" "126125254" "126125254" "subst" "0.00125394" "02326" "CRB2_000083" "g.126125254C>T" "" "" "" "CRB2(NM_173689.7):c.205C>T (p.R69W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852095" "0" "30" "9" "126129652" "126129652" "subst" "0.000866667" "02326" "CRB2_000085" "g.126129652G>C" "" "" "" "CRB2(NM_173689.7):c.940+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852096" "0" "30" "9" "126132374" "126132374" "subst" "0.00143761" "02326" "CRB2_000086" "g.126132374G>A" "" "" "" "CRB2(NM_173689.7):c.1055-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852097" "0" "30" "9" "126132796" "126132796" "subst" "0.000561236" "02326" "CRB2_000025" "g.126132796G>A" "" "" "" "CRB2(NM_173689.6):c.1464G>A (p.L488=), CRB2(NM_173689.7):c.1464G>A (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852098" "0" "30" "9" "126135627" "126135627" "subst" "0.00636261" "02326" "CRB2_000088" "g.126135627G>C" "" "" "" "CRB2(NM_173689.7):c.2817G>C (p.L939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852099" "0" "90" "9" "126135899" "126135914" "dup" "0" "02326" "CRB2_000003" "g.126135899_126135914dup" "" "" "" "CRB2(NM_173689.5):c.3089_3104dup (p.(Gly1036Alafs*43)), CRB2(NM_173689.7):c.3089_3104dupGGCCCGGCGCGGCCCC (p.G1036Afs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852100" "0" "30" "9" "126136014" "126136014" "subst" "0.00114136" "02326" "CRB2_000070" "g.126136014C>T" "" "" "" "CRB2(NM_173689.6):c.3204C>T (p.D1068=), CRB2(NM_173689.7):c.3204C>T (p.D1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861388" "0" "30" "9" "126129566" "126129566" "subst" "0.000795298" "02326" "CRB2_000084" "g.126129566C>T" "" "" "" "CRB2(NM_173689.7):c.870C>T (p.A290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861389" "0" "30" "9" "126133797" "126133797" "subst" "0.00186578" "02326" "CRB2_000087" "g.126133797G>T" "" "" "" "CRB2(NM_173689.7):c.2376G>T (p.E792D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861390" "0" "50" "9" "126139322" "126139322" "subst" "0.000443172" "01943" "CRB2_000089" "g.126139322C>T" "" "" "" "CRB2(NM_173689.6):c.3839C>T (p.P1280L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888607" "0" "30" "9" "126118629" "126118629" "subst" "4.88711E-5" "02326" "CRB2_000090" "g.126118629G>A" "" "" "" "CRB2(NM_173689.7):c.90G>A (p.L30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888608" "0" "30" "9" "126125186" "126125186" "subst" "0.00212254" "02326" "CRB2_000017" "g.126125186C>T" "" "" "" "CRB2(NM_173689.5):c.137C>T (p.(Pro46Leu)), CRB2(NM_173689.6):c.137C>T (p.P46L), CRB2(NM_173689.7):c.137C>T (p.P46L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888609" "0" "30" "9" "126133464" "126133464" "subst" "0.000715052" "02326" "CRB2_000091" "g.126133464C>T" "" "" "" "CRB2(NM_173689.7):c.2043C>T (p.S681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888610" "0" "30" "9" "126136106" "126136106" "subst" "0.000698675" "02326" "CRB2_000092" "g.126136106A>T" "" "" "" "CRB2(NM_173689.7):c.3296A>T (p.H1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888611" "0" "30" "9" "126137601" "126137601" "subst" "4.24466E-5" "02326" "CRB2_000093" "g.126137601C>T" "" "" "" "CRB2(NM_173689.7):c.3612C>T (p.S1204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913076" "0" "30" "9" "126128245" "126128245" "subst" "0.000509067" "02326" "CRB2_000074" "g.126128245G>A" "" "" "" "CRB2(NM_173689.6):c.468G>A (p.L156=), CRB2(NM_173689.7):c.468G>A (p.L156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913077" "0" "30" "9" "126128596" "126128596" "subst" "0" "02326" "CRB2_000094" "g.126128596C>T" "" "" "" "CRB2(NM_173689.7):c.705C>T (p.N235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913078" "0" "30" "9" "126129849" "126129849" "subst" "0.00085118" "02326" "CRB2_000095" "g.126129849C>T" "" "" "" "CRB2(NM_173689.7):c.941-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913079" "0" "30" "9" "126135609" "126135609" "subst" "0" "02326" "CRB2_000096" "g.126135609G>A" "" "" "" "CRB2(NM_173689.7):c.2799G>A (p.V933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924959" "0" "30" "9" "126129601" "126129601" "subst" "0.000492225" "02326" "CRB2_000097" "g.126129601C>T" "" "" "" "CRB2(NM_173689.7):c.905C>T (p.A302V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929526" "0" "30" "9" "126125319" "126125319" "subst" "0.000528554" "02326" "CRB2_000098" "g.126125319C>T" "" "" "" "CRB2(NM_173689.7):c.270C>T (p.T90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929527" "0" "30" "9" "126132549" "126132549" "subst" "0.0021046" "02326" "CRB2_000099" "g.126132549C>T" "" "" "" "CRB2(NM_173689.7):c.1217C>T (p.P406L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929528" "0" "30" "9" "126133551" "126133551" "subst" "0.001541" "02326" "CRB2_000100" "g.126133551G>A" "" "" "" "CRB2(NM_173689.7):c.2130G>A (p.P710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929529" "0" "30" "9" "126136939" "126136939" "subst" "0.000269767" "02326" "CRB2_000101" "g.126136939C>T" "" "" "" "CRB2(NM_173689.7):c.3471C>T (p.A1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949181" "0" "30" "9" "126139161" "126139161" "subst" "0.00055638" "02326" "CRB2_000102" "g.126139161C>T" "" "" "" "CRB2(NM_173689.7):c.3678C>T (p.A1226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965169" "0" "30" "9" "126139133" "126139133" "subst" "6.82978E-5" "02326" "CRB2_000103" "g.126139133C>T" "" "" "" "CRB2(NM_173689.7):c.3650C>T (p.P1217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978382" "0" "30" "9" "126125292" "126125292" "subst" "0.000155324" "01804" "CRB2_000105" "g.126125292G>C" "" "" "" "CRB2(NM_173689.7):c.243G>C (p.(Leu81=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978383" "0" "30" "9" "126125475" "126125475" "subst" "0.000532165" "01804" "CRB2_000106" "g.126125475C>T" "" "" "" "CRB2(NM_173689.5):c.418+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978384" "0" "50" "9" "126128390" "126128390" "subst" "0" "01804" "CRB2_000107" "g.126128390G>C" "" "" "" "CRB2(NM_173689.7):c.613G>C (p.(Gly205Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978385" "0" "30" "9" "126129448" "126129448" "del" "0" "01804" "CRB2_000108" "g.126129448del" "" "" "" "CRB2(NM_173689.7):c.755-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978386" "0" "50" "9" "126133684" "126133684" "subst" "0.000189288" "01804" "CRB2_000055" "g.126133684G>A" "" "" "" "CRB2(NM_173689.6):c.2263G>A (p.D755N), CRB2(NM_173689.7):c.2263G>A (p.(Asp755Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978387" "0" "30" "9" "126135519" "126135519" "subst" "0.00065741" "02326" "CRB2_000109" "g.126135519C>T" "" "" "" "CRB2(NM_173689.7):c.2709C>T (p.R903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978388" "0" "50" "9" "126135973" "126135973" "subst" "5.84067E-5" "01804" "CRB2_000110" "g.126135973C>T" "" "" "" "CRB2(NM_173689.7):c.3163C>T (p.(Arg1055Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997481" "0" "50" "9" "126129888" "126129888" "subst" "0" "01804" "CRB2_000111" "g.126129888C>T" "" "" "" "CRB2(NM_173689.5):c.977C>T (p.(Ser326Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997482" "0" "50" "9" "126132728" "126132728" "subst" "2.03356E-5" "01804" "CRB2_000023" "g.126132728C>T" "" "" "" "CRB2(NM_173689.5):c.1396C>T (p.(Arg466Cys)), CRB2(NM_173689.6):c.1396C>T (p.R466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014496" "0" "30" "9" "126132785" "126132785" "subst" "0.000337489" "02326" "CRB2_000112" "g.126132785G>C" "" "" "" "CRB2(NM_173689.7):c.1453G>C (p.E485Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037169" "0" "50" "9" "126128552" "126128552" "subst" "7.73901E-5" "01804" "CRB2_000113" "g.126128552G>A" "" "" "" "CRB2(NM_173689.7):c.661G>A (p.(Glu221Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037170" "0" "70" "9" "126132826" "126132826" "subst" "0.000699312" "02325" "CRB2_000014" "g.126132826G>T" "" "" "" "CRB2(NM_173689.6):c.1494G>T (p.W498C), CRB2(NM_173689.7):c.1494G>T (p.W498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037171" "0" "50" "9" "126133751" "126133751" "subst" "0" "01804" "CRB2_000114" "g.126133751T>A" "" "" "" "CRB2(NM_173689.7):c.2330T>A (p.(Leu777His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037172" "0" "70" "9" "126136037" "126136037" "subst" "0" "02325" "CRB2_000015" "g.126136037A>C" "" "" "" "CRB2(NM_173689.7):c.3227A>C (p.D1076A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037173" "0" "50" "9" "126136916" "126136916" "subst" "7.33263E-5" "01804" "CRB2_000115" "g.126136916T>C" "" "" "" "CRB2(NM_173689.7):c.3448T>C (p.(Cys1150Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037174" "0" "50" "9" "126137548" "126137548" "subst" "0" "01804" "CRB2_000116" "g.126137548A>C" "" "" "" "CRB2(NM_173689.7):c.3559A>C (p.(Thr1187Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037175" "0" "50" "9" "126139148" "126139148" "subst" "0.000312344" "01804" "CRB2_000117" "g.126139148T>C" "" "" "" "CRB2(NM_173689.7):c.3665T>C (p.(Leu1222Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053342" "0" "50" "9" "126135542" "126135542" "subst" "1.18223E-5" "01804" "CRB2_000118" "g.126135542G>A" "" "" "" "CRB2(NM_173689.7):c.2732G>A (p.(Arg911His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065125" "0" "30" "9" "126118544" "126118544" "subst" "0.00298573" "01804" "CRB2_000016" "g.126118544C>T" "" "" "" "CRB2(NM_173689.6):c.5C>T (p.A2V), CRB2(NM_173689.7):c.5C>T (p.(Ala2Val), p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065126" "0" "50" "9" "126136167" "126136184" "del" "0" "01804" "CRB2_000119" "g.126136167_126136184del" "" "" "" "CRB2(NM_173689.7):c.3357_3374del (p.(Cys1120_Gly1125del))" "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 CRB2 ## Count = 137 "{{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}}" "0000058521" "00005648" "90" "1859" "0" "1859" "0" "c.1859G>C" "r.(?)" "p.(Cys620Ser)" "7" "0000058522" "00005648" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Cys)" "7" "0000058523" "00005648" "90" "3089" "0" "3104" "0" "c.3089_3104dup" "r.(?)" "p.(Gly1036Alafs*43)" "10" "0000058524" "00005648" "90" "1886" "0" "1886" "0" "c.1886G>C" "r.(?)" "p.(Cys629Ser)" "7" "0000058525" "00005648" "90" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249Gln)" "13" "0000058526" "00005648" "90" "2277" "0" "2277" "0" "c.2277G>A" "r.(?)" "p.(Trp759*)" "8" "0000058527" "00005648" "90" "2400" "0" "2400" "0" "c.2400C>G" "r.(?)" "p.(Asn800Lys)" "8" "0000058528" "00005648" "90" "1928" "0" "1928" "0" "c.1928A>C" "r.spl?" "p.(Glu643Ala)" "8" "0000058529" "00005648" "90" "2400" "0" "2400" "0" "c.2400C>G" "r.(?)" "p.(Asn800Lys)" "8" "0000058530" "00005648" "90" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Trp)" "7" "0000268566" "00005648" "90" "2445" "0" "2446" "0" "c.2445_2446del" "r.(?)" "p.(Cys816PhefsTer12)" "" "0000268567" "00005648" "70" "3220" "0" "3228" "0" "c.3220_3228del" "r.(?)" "p.(Leu1074_Asp1076del)" "" "0000274391" "00005648" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Ile412=)" "" "0000274392" "00005648" "90" "1376" "0" "1376" "0" "c.1376del" "r.(?)" "p.(Leu459ArgfsTer5)" "" "0000274393" "00005648" "10" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000274394" "00005648" "50" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Cys)" "" "0000274395" "00005648" "30" "1428" "0" "1428" "0" "c.1428T>G" "r.(?)" "p.(Thr476=)" "" "0000274396" "00005648" "30" "1464" "0" "1464" "0" "c.1464G>A" "r.(?)" "p.(Leu488=)" "" "0000274397" "00005648" "50" "1494" "0" "1494" "0" "c.1494G>T" "r.(?)" "p.(Trp498Cys)" "" "0000274398" "00005648" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Gly794=)" "" "0000274399" "00005648" "50" "2458" "0" "2463" "0" "c.2458_2463del" "r.(?)" "p.(Gly820_Thr821del)" "" "0000274400" "00005648" "30" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Leu823=)" "" "0000274401" "00005648" "50" "2701" "0" "2701" "0" "c.2701C>T" "r.(?)" "p.(Arg901Cys)" "" "0000274402" "00005648" "50" "2702" "0" "2702" "0" "c.2702G>A" "r.(?)" "p.(Arg901His)" "" "0000274403" "00005648" "10" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(Ala916=)" "" "0000274404" "00005648" "90" "2887" "0" "2888" "0" "c.2887_2888del" "r.(?)" "p.(Met963GlyfsTer29)" "" "0000274405" "00005648" "90" "2890" "0" "2905" "0" "c.2890_2905del" "r.(?)" "p.(Glu964ProfsTer172)" "" "0000274406" "00005648" "50" "3046" "0" "3046" "0" "c.3046C>T" "r.(?)" "p.(Arg1016Cys)" "" "0000274407" "00005648" "50" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Glu1092Lys)" "" "0000274408" "00005648" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Ile109=)" "" "0000274409" "00005648" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Cys172=)" "" "0000274410" "00005648" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000340617" "00005648" "10" "3021" "0" "3021" "0" "c.3021T>C" "r.(?)" "p.(Ala1007=)" "" "0000340618" "00005648" "10" "3126" "0" "3126" "0" "c.3126G>C" "r.(?)" "p.(Ala1042=)" "" "0000340970" "00005648" "10" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ser692=)" "" "0000343351" "00005648" "90" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771Ter)" "" "0000345055" "00005648" "50" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Glu1092Lys)" "" "0000345486" "00005648" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Glu57Lys)" "" "0000346168" "00005648" "50" "1714" "0" "1714" "0" "c.1714G>T" "r.(?)" "p.(Gly572Trp)" "" "0000349589" "00005648" "50" "1943" "0" "1943" "0" "c.1943C>T" "r.(?)" "p.(Thr648Ile)" "" "0000349654" "00005648" "10" "269" "0" "269" "0" "c.269C>A" "r.(?)" "p.(Thr90Asn)" "" "0000350639" "00005648" "10" "2126" "0" "2126" "0" "c.2126T>C" "r.(?)" "p.(Val709Ala)" "" "0000369622" "00005648" "70" "3291" "0" "3292" "0" "c.3291_3292del" "r.(?)" "p.(Cys1098Serfs*53)" "10" "0000369623" "00005648" "70" "3343" "0" "3343" "0" "c.3343C>T" "r.(?)" "p.(Arg1115Cys)" "11" "0000369624" "00005648" "70" "3385" "0" "3385" "0" "c.3385T>C" "r.(?)" "p.(Cys1129Arg)" "11" "0000369625" "00005648" "70" "3104" "0" "3105" "0" "c.3104_3105insCCGGCGCGGCCCCGGC" "r.(?)" "p.(Gly1036Argfs*43)" "10" "0000369626" "00005648" "50" "1494" "0" "1494" "0" "c.1494G>T" "r.(?)" "p.(Trp498Cys)" "7" "0000369627" "00005648" "50" "3227" "0" "3227" "0" "c.3227A>C" "r.(?)" "p.(Asp1076Ala)" "10" "0000536226" "00005648" "30" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000536227" "00005648" "90" "400" "0" "400" "0" "c.400dup" "r.(?)" "p.(Cys134LeufsTer148)" "" "0000536228" "00005648" "50" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(Arg584Cys)" "" "0000536229" "00005648" "30" "1828" "0" "1828" "0" "c.1828C>T" "r.(?)" "p.(Arg610Trp)" "" "0000536230" "00005648" "30" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Asp755Asn)" "" "0000536231" "00005648" "30" "2547" "0" "2547" "0" "c.2547C>T" "r.(?)" "p.(Pro849=)" "" "0000536232" "00005648" "30" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Gly894Ser)" "" "0000536233" "00005648" "10" "2680" "0" "2680" "0" "c.2680G>A" "r.(?)" "p.(Gly894Ser)" "" "0000536234" "00005648" "30" "2848" "0" "2848" "0" "c.2848C>T" "r.(?)" "p.(Arg950Cys)" "" "0000536235" "00005648" "30" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Met963Val)" "" "0000536236" "00005648" "50" "2989" "0" "2989" "0" "c.2989C>T" "r.(?)" "p.(Gln997Ter)" "" "0000536239" "00005648" "30" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ser1043Phe)" "" "0000536240" "00005648" "50" "3185" "0" "3201" "0" "c.3185_3201dup" "r.(?)" "p.(Asp1068ProfsTer79)" "" "0000536242" "00005648" "50" "3846" "0" "3849" "0" "c.3846_3849del" "r.(?)" "p.(Glu1282AspfsTer117)" "" "0000611846" "00005648" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000611847" "00005648" "30" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Arg605His)" "" "0000611848" "00005648" "90" "3089" "0" "3104" "0" "c.3089_3104dup" "r.(?)" "p.(Gly1036AlafsTer43)" "" "0000622160" "00005648" "30" "2879" "0" "2879" "0" "c.2879G>A" "r.(?)" "p.(Arg960His)" "" "0000656215" "00005648" "30" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "0000656216" "00005648" "30" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ser1043Phe)" "" "0000656217" "00005648" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Asp1068=)" "" "0000678519" "00005648" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000690395" "00005648" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000690396" "00005648" "30" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Tyr285=)" "" "0000690397" "00005648" "70" "2277" "0" "2277" "0" "c.2277G>A" "r.(?)" "p.(Trp759Ter)" "" "0000690398" "00005648" "50" "3089" "0" "3104" "0" "c.3089_3104del" "r.(?)" "p.(Arg1030LeufsTer106)" "" "0000690399" "00005648" "30" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ser1043Phe)" "" "0000690400" "00005648" "30" "3325" "0" "3325" "0" "c.3325C>G" "r.(?)" "p.(His1109Asp)" "" "0000690401" "00005648" "30" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Ala1156Thr)" "" "0000722253" "00005648" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Leu156=)" "" "0000722254" "00005648" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Cys172=)" "" "0000722255" "00005648" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Ile412=)" "" "0000722256" "00005648" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Tyr422=)" "" "0000722257" "00005648" "30" "1428" "0" "1428" "0" "c.1428T>G" "r.(?)" "p.(Thr476=)" "" "0000722258" "00005648" "30" "1927" "10" "1927" "10" "c.1927+10A>T" "r.(=)" "p.(=)" "" "0000722259" "00005648" "10" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Thr841=)" "" "0000722260" "00005648" "90" "2530" "0" "2530" "0" "c.2530C>T" "r.(?)" "p.(Gln844*)" "" "0000722261" "00005648" "90" "3089" "0" "3104" "0" "c.3089_3104dup" "r.(?)" "p.(Gly1036AlafsTer43)" "" "0000803863" "00005648" "30" "1054" "15" "1054" "15" "c.1054+15G>A" "r.(=)" "p.(=)" "" "0000803864" "00005648" "30" "1329" "0" "1329" "0" "c.1329G>C" "r.(?)" "p.(Val443=)" "" "0000803865" "00005648" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Arg704=)" "" "0000803866" "00005648" "30" "2547" "0" "2547" "0" "c.2547C>T" "r.(?)" "p.(Pro849=)" "" "0000803867" "00005648" "50" "2567" "0" "2567" "0" "c.2567C>T" "r.(?)" "p.(Pro856Leu)" "" "0000852094" "00005648" "10" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69Trp)" "" "0000852095" "00005648" "30" "940" "16" "940" "16" "c.940+16G>C" "r.(=)" "p.(=)" "" "0000852096" "00005648" "30" "1055" "-13" "1055" "-13" "c.1055-13G>A" "r.(=)" "p.(=)" "" "0000852097" "00005648" "30" "1464" "0" "1464" "0" "c.1464G>A" "r.(?)" "p.(Leu488=)" "" "0000852098" "00005648" "30" "2817" "0" "2817" "0" "c.2817G>C" "r.(?)" "p.(Leu939=)" "" "0000852099" "00005648" "90" "3089" "0" "3104" "0" "c.3089_3104dup" "r.(?)" "p.(Gly1036AlafsTer43)" "" "0000852100" "00005648" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Asp1068=)" "" "0000861388" "00005648" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ala290=)" "" "0000861389" "00005648" "30" "2376" "0" "2376" "0" "c.2376G>T" "r.(?)" "p.(Glu792Asp)" "" "0000861390" "00005648" "50" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Pro1280Leu)" "" "0000888607" "00005648" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Leu30=)" "" "0000888608" "00005648" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000888609" "00005648" "30" "2043" "0" "2043" "0" "c.2043C>T" "r.(?)" "p.(Ser681=)" "" "0000888610" "00005648" "30" "3296" "0" "3296" "0" "c.3296A>T" "r.(?)" "p.(His1099Leu)" "" "0000888611" "00005648" "30" "3612" "0" "3612" "0" "c.3612C>T" "r.(?)" "p.(Ser1204=)" "" "0000913076" "00005648" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Leu156=)" "" "0000913077" "00005648" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Asn235=)" "" "0000913078" "00005648" "30" "941" "-3" "941" "-3" "c.941-3C>T" "r.spl?" "p.?" "" "0000913079" "00005648" "30" "2799" "0" "2799" "0" "c.2799G>A" "r.(?)" "p.(Val933=)" "" "0000924959" "00005648" "30" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Ala302Val)" "" "0000929526" "00005648" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(=)" "" "0000929527" "00005648" "30" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Pro406Leu)" "" "0000929528" "00005648" "30" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(=)" "" "0000929529" "00005648" "30" "3471" "0" "3471" "0" "c.3471C>T" "r.(?)" "p.(=)" "" "0000949181" "00005648" "30" "3678" "0" "3678" "0" "c.3678C>T" "r.(?)" "p.(=)" "" "0000965169" "00005648" "30" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Pro1217Leu)" "" "0000978382" "00005648" "30" "243" "0" "243" "0" "c.243G>C" "r.(?)" "p.(=)" "" "0000978383" "00005648" "30" "418" "8" "418" "8" "c.418+8C>T" "r.(=)" "p.(=)" "" "0000978384" "00005648" "50" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Gly205Arg)" "" "0000978385" "00005648" "30" "755" "-3" "755" "-3" "c.755-3del" "r.spl?" "p.?" "" "0000978386" "00005648" "50" "2263" "0" "2263" "0" "c.2263G>A" "r.(?)" "p.(Asp755Asn)" "" "0000978387" "00005648" "30" "2709" "0" "2709" "0" "c.2709C>T" "r.(?)" "p.(=)" "" "0000978388" "00005648" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Cys)" "" "0000997481" "00005648" "50" "977" "0" "977" "0" "c.977C>T" "r.(?)" "p.(Ser326Leu)" "" "0000997482" "00005648" "50" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Cys)" "" "0001014496" "00005648" "30" "1453" "0" "1453" "0" "c.1453G>C" "r.(?)" "p.(Glu485Gln)" "" "0001037169" "00005648" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Glu221Lys)" "" "0001037170" "00005648" "70" "1494" "0" "1494" "0" "c.1494G>T" "r.(?)" "p.(Trp498Cys)" "" "0001037171" "00005648" "50" "2330" "0" "2330" "0" "c.2330T>A" "r.(?)" "p.(Leu777His)" "" "0001037172" "00005648" "70" "3227" "0" "3227" "0" "c.3227A>C" "r.(?)" "p.(Asp1076Ala)" "" "0001037173" "00005648" "50" "3448" "0" "3448" "0" "c.3448T>C" "r.(?)" "p.(Cys1150Arg)" "" "0001037174" "00005648" "50" "3559" "0" "3559" "0" "c.3559A>C" "r.(?)" "p.(Thr1187Pro)" "" "0001037175" "00005648" "50" "3665" "0" "3665" "0" "c.3665T>C" "r.(?)" "p.(Leu1222Pro)" "" "0001053342" "00005648" "50" "2732" "0" "2732" "0" "c.2732G>A" "r.(?)" "p.(Arg911His)" "" "0001065125" "00005648" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0001065126" "00005648" "50" "3357" "0" "3374" "0" "c.3357_3374del" "r.(?)" "p.(Cys1120_Gly1125del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000032401" "0000058521" "0000032402" "0000058522" "0000032402" "0000058523" "0000032403" "0000058524" "0000032404" "0000058525" "0000032405" "0000058526" "0000032405" "0000058527" "0000032406" "0000058528" "0000032406" "0000058529" "0000032407" "0000058530" "0000165862" "0000369622" "0000165862" "0000369623" "0000165863" "0000369624" "0000165863" "0000369625" "0000165864" "0000369626" "0000165864" "0000369627"