### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRBN) # 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}}" "CRBN" "cereblon" "3" "p26.3" "unknown" "NG_016864.1" "UD_132118516775" "" "https://www.LOVD.nl/CRBN" "" "1" "30185" "51185" "609262" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/CRBN_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2018-08-01 10:25:20" "00000" "2025-05-05 21:14:00" ## 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}}" "00000009" "CRBN" "cereblon, transcript variant 1" "002" "NM_016302.3" "" "NP_057386.2" "" "" "" "-30" "2561" "1329" "3221401" "3191317" "00002" "2012-05-11 13:11:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01092" "MRT2" "mental retardation, autosomal recessive, type 2 (MRT-2)" "AR" "607417" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CRBN" "00139" "CRBN" "01092" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00164424" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00164424" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 01092, 05330, 05378 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000129483" "00198" "00164424" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000165291" "00164424" "1" "01807" "01807" "2018-05-17 16:06:56" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" ## 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 = 34 "{{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}}" "0000000922" "3" "50" "3" "3192927" "3192927" "subst" "0" "00002" "CRBN_000001" "g.3192927T>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:1620675}" "" "" "" "Germline" "" "" "" "" "" "g.3151243T>G" "" "VUS" "" "0000249033" "0" "10" "3" "3215954" "3215954" "subst" "0.973148" "02325" "CRBN_000005" "g.3215954A>G" "" "" "" "CRBN(NM_016302.4):c.175-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3174270A>G" "" "benign" "" "0000267124" "0" "30" "3" "3215730" "3215730" "subst" "0.0173971" "02325" "CRBN_000003" "g.3215730T>G" "" "" "" "CRBN(NM_016302.4):c.377+13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3174046T>G" "" "likely benign" "" "0000317117" "0" "50" "3" "3188176" "3188176" "subst" "0" "01943" "TRNT1_000002" "g.3188176C>T" "" "" "" "TRNT1(NM_182916.3):c.671C>T (p.A224V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3146492C>T" "" "VUS" "" "0000329211" "0" "50" "3" "3215866" "3215866" "subst" "0" "01804" "CRBN_000004" "g.3215866G>C" "" "" "" "CRBN(NM_001173482.1):c.251C>G (p.(Pro84Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3174182G>C" "" "VUS" "" "0000368950" "3" "90" "3" "3196462" "3196462" "dup" "0" "01807" "CRBN_000006" "g.3196462dup" "" "" "" "807dupA" "" "Unknown" "" "" "0" "" "" "g.3154778dup" "" "pathogenic" "" "0000518999" "0" "50" "3" "3186385" "3186385" "subst" "4.6617E-6" "01943" "CRBN_000007" "g.3186385G>A" "" "" "" "TRNT1(NM_182916.3):c.599G>A (p.R200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3144701G>A" "" "VUS" "" "0000519000" "0" "10" "3" "3189141" "3189142" "ins" "0" "01943" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147457_3147458insAAACTT" "" "benign" "" "0000519001" "0" "30" "3" "3196519" "3196522" "del" "0" "01804" "CRBN_000008" "g.3196519_3196522del" "" "" "" "CRBN(NM_001173482.1):c.748-5_748-2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3154835_3154838del" "" "likely benign" "" "0000608486" "0" "50" "3" "3188205" "3188205" "subst" "0" "01943" "CRBN_000009" "g.3188205T>G" "" "" "" "TRNT1(NM_182916.3):c.700T>G (p.S234A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3146521T>G" "" "VUS" "" "0000608488" "0" "90" "3" "3189683" "3189690" "del" "0" "01943" "CRBN_000011" "g.3189683_3189690del" "" "" "" "TRNT1(NM_182916.3):c.1150_1157delCCTCCATT (p.P384Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147999_3148006del" "" "pathogenic" "" "0000654873" "0" "30" "3" "3189141" "3189142" "ins" "0" "02325" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3147457_3147458insAAACTT" "" "likely benign" "" "0000654874" "0" "30" "3" "3189825" "3189825" "subst" "0.000651636" "01943" "CRBN_000012" "g.3189825T>C" "" "" "" "TRNT1(NM_001367321.1):c.1292T>C (p.I431T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3148141T>C" "" "likely benign" "" "0000689022" "0" "30" "3" "3188154" "3188154" "subst" "4.06597E-6" "01943" "CRBN_000013" "g.3188154C>G" "" "" "" "TRNT1(NM_001367321.1):c.649C>G (p.P217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719343" "0" "30" "3" "3189705" "3189705" "subst" "4.06266E-6" "01943" "CRBN_000014" "g.3189705A>G" "" "" "" "TRNT1(NM_182916.3):c.1172A>G (p.H391R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719344" "0" "70" "3" "3189785" "3189785" "dup" "0" "02329" "CRBN_000015" "g.3189785dup" "" "" "" "TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801153" "0" "50" "3" "3188202" "3188202" "subst" "2.84359E-5" "01943" "CRBN_000016" "g.3188202A>G" "" "" "" "TRNT1(NM_001302946.2):c.697A>G (p.I233V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801154" "0" "30" "3" "3188249" "3188249" "subst" "0.000292559" "01943" "CRBN_000017" "g.3188249T>C" "" "" "" "TRNT1(NM_182916.3):c.744T>C (p.G248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850232" "0" "70" "3" "3186395" "3186395" "subst" "9.07961E-5" "02330" "CRBN_000018" "g.3186395G>T" "" "" "" "TRNT1(NM_001367321.1):c.608+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000858952" "0" "30" "3" "3189141" "3189142" "ins" "0" "02330" "TRNT1_000011" "g.3189141_3189142insAAACTT" "" "" "" "TRNT1(NM_182916.3):c.810_811insAAACTT (p.P270_A271insKL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858953" "0" "30" "3" "3189640" "3189640" "subst" "0" "01943" "CRBN_000019" "g.3189640A>G" "" "" "" "TRNT1(NM_001367321.1):c.1107A>G (p.Q369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885712" "0" "90" "3" "3186395" "3186395" "subst" "9.07961E-5" "02327" "CRBN_000018" "g.3186395G>T" "" "" "" "TRNT1(NM_001367321.1):c.608+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885713" "0" "70" "3" "3189785" "3189785" "dup" "0" "02330" "CRBN_000015" "g.3189785dup" "" "" "" "TRNT1(NM_001367321.1):c.1252dupA (p.S418Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923901" "0" "50" "3" "3186385" "3186385" "subst" "4.6617E-6" "02327" "CRBN_000007" "g.3186385G>A" "" "" "" "TRNT1(NM_182916.3):c.599G>A (p.R200K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928760" "0" "30" "3" "3189306" "3189306" "subst" "0" "02326" "CRBN_000021" "g.3189306T>G" "" "" "" "TRNT1(NM_182916.3):c.975T>G (p.F325L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948113" "0" "70" "3" "3186324" "3186324" "subst" "3.72168E-5" "02329" "CRBN_000022" "g.3186324A>T" "" "" "" "TRNT1(NM_001367321.1):c.538A>T (p.K180*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948114" "0" "90" "3" "3189767" "3189767" "subst" "2.84544E-5" "02326" "CRBN_000023" "g.3189767C>T" "" "" "" "TRNT1(NM_182916.3):c.1234C>T (p.R412*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962668" "0" "30" "3" "3189658" "3189658" "subst" "0" "02330" "CRBN_000024" "g.3189658A>G" "" "" "" "TRNT1(NM_001367321.1):c.1125A>G (p.L375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962669" "0" "50" "3" "3189687" "3189687" "subst" "0" "02325" "CRBN_000025" "g.3189687C>T" "" "" "" "TRNT1(NM_182916.3):c.1154C>T (p.P385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962670" "0" "70" "3" "3189773" "3189773" "subst" "4.0654E-6" "02326" "TRNT1_000032" "g.3189773C>T" "" "" "" "TRNT1(NM_182916.3):c.1240C>T (p.Q414*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975748" "0" "90" "3" "3188173" "3188173" "subst" "3.6575E-5" "01804" "TRNT1_000029" "g.3188173T>C" "" "" "" "TRNT1(NM_182916.3):c.668T>C (p.(Ile223Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975749" "0" "50" "3" "3189677" "3189677" "subst" "0" "01804" "CRBN_000026" "g.3189677T>C" "" "" "" "TRNT1(NM_182916.3):c.1144T>C (p.(Ser382Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033898" "0" "50" "3" "3189218" "3189218" "subst" "0" "01804" "CRBN_000027" "g.3189218T>C" "" "" "" "TRNT1(NM_182916.3):c.887T>C (p.(Leu296Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033899" "0" "50" "3" "3195658" "3195658" "subst" "9.34724E-5" "01804" "CRBN_000028" "g.3195658C>G" "" "" "" "CRBN(NM_016302.4):c.937G>C (p.(Asp313His))" "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 CRBN ## Count = 34 "{{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}}" "0000000922" "00000009" "50" "1149" "-198" "1149" "-198" "c.1149-198A>C" "r.(=)" "p.(=)" "" "0000249033" "00000009" "10" "175" "-9" "175" "-9" "c.175-9T>C" "r.(=)" "p.(=)" "" "0000267124" "00000009" "30" "377" "13" "377" "13" "c.377+13A>C" "r.(=)" "p.(=)" "" "0000317117" "00000009" "50" "5702" "0" "5702" "0" "c.*4373G>A" "r.(=)" "p.(=)" "" "0000329211" "00000009" "50" "254" "0" "254" "0" "c.254C>G" "r.(?)" "p.(Pro85Arg)" "" "0000368950" "00000009" "90" "807" "0" "807" "0" "c.807dup" "r.(?)" "p.(Asp270Argfs*2)" "" "0000518999" "00000009" "50" "7493" "0" "7493" "0" "c.*6164C>T" "r.(=)" "p.(=)" "" "0000519000" "00000009" "10" "4737" "0" "4738" "0" "c.*3408_*3409insAGTTTA" "r.(=)" "p.(=)" "" "0000519001" "00000009" "30" "751" "-5" "751" "-2" "c.751-5_751-2del" "r.spl?" "p.?" "" "0000608486" "00000009" "50" "5673" "0" "5673" "0" "c.*4344A>C" "r.(=)" "p.(=)" "" "0000608488" "00000009" "90" "4194" "0" "4201" "0" "c.*2865_*2872del" "r.(=)" "p.(=)" "" "0000654873" "00000009" "30" "4737" "0" "4738" "0" "c.*3408_*3409insAGTTTA" "r.(=)" "p.(=)" "" "0000654874" "00000009" "30" "4053" "0" "4053" "0" "c.*2724A>G" "r.(=)" "p.(=)" "" "0000689022" "00000009" "30" "5724" "0" "5724" "0" "c.*4395G>C" "r.(=)" "p.(=)" "" "0000719343" "00000009" "30" "4173" "0" "4173" "0" "c.*2844T>C" "r.(=)" "p.(=)" "" "0000719344" "00000009" "70" "4099" "0" "4099" "0" "c.*2770dup" "r.(?)" "p.(=)" "" "0000801153" "00000009" "50" "5676" "0" "5676" "0" "c.*4347T>C" "r.(=)" "p.(=)" "" "0000801154" "00000009" "30" "5629" "0" "5629" "0" "c.*4300A>G" "r.(=)" "p.(=)" "" "0000850232" "00000009" "70" "7483" "0" "7483" "0" "c.*6154C>A" "r.(=)" "p.(=)" "" "0000858952" "00000009" "30" "4737" "0" "4738" "0" "c.*3408_*3409insAGTTTA" "r.(=)" "p.(=)" "" "0000858953" "00000009" "30" "4238" "0" "4238" "0" "c.*2909T>C" "r.(=)" "p.(=)" "" "0000885712" "00000009" "90" "7483" "0" "7483" "0" "c.*6154C>A" "r.(=)" "p.(=)" "" "0000885713" "00000009" "70" "4099" "0" "4099" "0" "c.*2770dup" "r.(?)" "p.(=)" "" "0000923901" "00000009" "50" "7493" "0" "7493" "0" "c.*6164C>T" "r.(=)" "p.(=)" "" "0000928760" "00000009" "30" "4572" "0" "4572" "0" "c.*3243A>C" "r.(=)" "p.(=)" "" "0000948113" "00000009" "70" "7554" "0" "7554" "0" "c.*6225T>A" "r.(=)" "p.(=)" "" "0000948114" "00000009" "90" "4111" "0" "4111" "0" "c.*2782G>A" "r.(=)" "p.(=)" "" "0000962668" "00000009" "30" "4220" "0" "4220" "0" "c.*2891T>C" "r.(=)" "p.(=)" "" "0000962669" "00000009" "50" "4191" "0" "4191" "0" "c.*2862G>A" "r.(=)" "p.(=)" "" "0000962670" "00000009" "70" "4105" "0" "4105" "0" "c.*2776G>A" "r.(=)" "p.(=)" "" "0000975748" "00000009" "90" "5705" "0" "5705" "0" "c.*4376A>G" "r.(=)" "p.(=)" "" "0000975749" "00000009" "50" "4201" "0" "4201" "0" "c.*2872A>G" "r.(=)" "p.(=)" "" "0001033898" "00000009" "50" "4660" "0" "4660" "0" "c.*3331A>G" "r.(=)" "p.(=)" "" "0001033899" "00000009" "50" "937" "0" "937" "0" "c.937G>C" "r.(?)" "p.(Asp313His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000922" "0000165291" "0000368950"