### 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/Lung}}" "{{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"