### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMC3) # 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}}" "SMC3" "structural maintenance of chromosomes 3" "10" "q25" "unknown" "NG_012217.1" "UD_132118440993" "" "http://www.LOVD.nl/SMC3" "" "1" "2468" "9126" "606062" "1" "1" "1" "1" "èstablishment of this gene variant database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SMC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-09-04 00:00:00" "00006" "2023-08-31 23:39:10" "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}}" "00019433" "SMC3" "structural maintenance of chromosomes 3" "001" "NM_005445.3" "" "NP_005436.1" "" "" "" "-126" "3986" "3654" "112327449" "112364392" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00297" "GCPS" "cephalopolysyndactyly, Greig syndrome (GCPS)" "AD" "175700" "" "" "" "00006" "2014-01-17 17:17:13" "00006" "2021-12-10 21:51:32" "00670" "CDLS3" "Cornelia de Lange syndrome, type 3 (CDLS-3)" "AD" "610759" "" "cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-31 23:38:53" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SMC3" "00139" "SMC3" "00670" "SMC3" "04281" ## 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}}" "00004281" "" "" "" "3" "" "00106" "{PMID:Demurger 2015:24736735}" "family, 3 affected" "F" "no" "(France)" "" "0" "" "" "white" "G109" "00183666" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat11" "00289988" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00436341" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB5593" "00436342" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "CGD-61879896" "00436367" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "SMC3-Pat1" "00436368" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "SMC3-Pat2" "00436369" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "SMC3-Pat3" "00436370" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "SMC3-Pat4" "00438565" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0006" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00004281" "00297" "00183666" "00139" "00289988" "00198" "00436341" "04281" "00436342" "04281" "00436367" "04281" "00436368" "04281" "00436369" "04281" "00436370" "00198" "00436370" "04281" "00438565" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00297, 00670, 04281, 06906 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{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}}" "0000002999" "00297" "00004281" "00106" "Familial, autosomal dominant" "00y03m" "hand bilateral postaxial polydactyly; feet bilateral preaxial polydactyly; no syndactyly; no macrocephaly; widely spaced eyes; macrosomia" "" "" "" "" "" "" "" "" "" "GCPS" "Greig cephalopolysyndactyly syndrome" "" "0000144352" "00139" "00183666" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS" "intellectual disability" "" "0000326521" "04281" "00436341" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "Cornelia de Lange syndrome" "" "0000326522" "04281" "00436342" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "Cornelia de Lange syndrome" "" "0000326546" "04281" "00436367" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "Cornelia de Lange syndrome" "" "0000326547" "04281" "00436368" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "Cornelia de Lange syndrome" "" "0000326548" "04281" "00436369" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "xeroderma pigmentosa" "" "0000326549" "04281" "00436370" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS3" "xeroderma pigmentosa" "" "0000328468" "06906" "00438565" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000180341" "00004281" "1" "01323" "01323" "2014-06-15 17:13:32" "00006" "2015-06-08 22:37:58" "SEQ" "DNA" "" "" "0000180342" "00004281" "1" "01323" "01323" "2014-06-15 17:55:15" "00006" "2015-06-08 22:41:04" "SEQ" "DNA" "" "" "0000180343" "00004281" "1" "01323" "01323" "2014-06-15 17:56:32" "00006" "2015-06-08 22:27:47" "SEQ" "DNA" "" "" "0000180344" "00004281" "1" "01323" "01323" "2014-06-15 17:57:31" "00006" "2015-06-08 22:24:30" "SEQ" "DNA" "" "" "0000180345" "00004281" "1" "01323" "01323" "2014-06-15 17:58:43" "00006" "2015-06-08 22:36:21" "SEQ" "DNA" "" "" "0000180346" "00004281" "1" "01323" "01323" "2014-10-26 20:02:58" "00006" "2015-06-08 22:18:57" "SEQ" "DNA" "" "" "0000180347" "00004281" "1" "00006" "00006" "2009-09-05 15:13:34" "" "" "SEQ" "DNA" "" "" "0000180348" "00004281" "1" "01323" "01323" "2014-06-15 18:00:40" "00006" "2015-06-08 22:21:31" "SEQ" "DNA" "" "" "0000180349" "00004281" "1" "01323" "01323" "2014-06-15 18:02:00" "00006" "2015-06-08 22:34:10" "SEQ" "DNA" "" "" "0000180350" "00004281" "1" "01323" "01323" "2014-06-15 18:02:53" "00006" "2015-06-08 22:29:55" "SEQ" "DNA" "" "" "0000180351" "00004281" "1" "01323" "01323" "2014-10-26 20:04:32" "00006" "2015-06-08 22:17:10" "SEQ" "DNA" "" "" "0000180352" "00004281" "1" "01323" "01323" "2014-06-15 18:03:41" "00006" "2015-06-08 22:13:25" "SEQ" "DNA" "" "" "0000180353" "00004281" "1" "01323" "01323" "2014-06-15 18:04:35" "00006" "2015-06-08 22:15:34" "SEQ" "DNA" "" "" "0000180354" "00004281" "1" "01323" "01323" "2014-06-15 18:05:44" "00006" "2015-06-08 22:14:35" "SEQ" "DNA" "" "" "0000180355" "00004281" "1" "01323" "01323" "2014-06-15 18:06:29" "00006" "2015-06-08 22:32:41" "SEQ" "DNA" "" "" "0000180356" "00004281" "1" "01323" "01323" "2014-06-15 18:07:16" "00006" "2015-06-08 22:08:49" "SEQ" "DNA" "" "" "0000184634" "00183666" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000291156" "00289988" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000437824" "00436341" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437825" "00436342" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437849" "00436367" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437850" "00436368" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437851" "00436369" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437852" "00436370" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000440047" "00438565" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000180341" "SMC3" "0000180342" "SMC3" "0000180343" "SMC3" "0000180344" "SMC3" "0000180345" "SMC3" "0000180346" "SMC3" "0000180347" "SMC3" "0000180348" "SMC3" "0000180349" "SMC3" "0000180350" "SMC3" "0000180351" "SMC3" "0000180352" "SMC3" "0000180353" "SMC3" "0000180354" "SMC3" "0000180355" "SMC3" "0000180356" "SMC3" "0000184634" "SMC3" ## 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 = 80 "{{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}}" "0000248624" "0" "10" "10" "112361870" "112361870" "subst" "0.996851" "02325" "SMC3_000030" "g.112361870A>G" "" "" "" "SMC3(NM_005445.4):c.3039A>G (p.S1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110602112A>G" "" "benign" "" "0000255262" "0" "30" "10" "112350743" "112350743" "subst" "0.00116634" "01943" "SMC3_000027" "g.112350743A>G" "" "" "" "SMC3(NM_005445.3):c.1671-6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110590985A>G" "" "likely benign" "" "0000298404" "0" "50" "10" "112362357" "112362357" "subst" "0" "02325" "SMC3_000032" "g.112362357T>A" "" "" "" "SMC3(NM_005445.4):c.3231T>A (p.(Ser1077Arg), p.S1077R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110602599T>A" "" "VUS" "" "0000298405" "0" "70" "10" "112340744" "112340744" "subst" "0" "02325" "SMC3_000022" "g.112340744G>A" "" "" "" "SMC3(NM_005445.4):c.512G>A (p.R171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110580986G>A" "" "likely pathogenic" "" "0000298406" "0" "10" "10" "112341676" "112341677" "dup" "0" "02325" "SMC3_000023" "g.112341676_112341677dup" "" "" "" "SMC3(NM_005445.3):c.548-5_548-4dup (p.(=)), SMC3(NM_005445.4):c.548-5_548-4dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110581918_110581919dup" "" "benign" "" "0000298407" "0" "30" "10" "112342314" "112342314" "dup" "0" "02325" "SMC3_000024" "g.112342314dup" "" "" "" "SMC3(NM_005445.4):c.724-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110582556dup" "" "likely benign" "" "0000308629" "0" "30" "10" "112356199" "112356199" "subst" "0.00493344" "01943" "SMC3_000028" "g.112356199T>C" "" "" "" "SMC3(NM_005445.3):c.2007T>C (p.Y669=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110596441T>C" "" "likely benign" "" "0000337013" "0" "10" "10" "112333446" "112333446" "subst" "0.00322016" "02327" "SMC3_000033" "g.112333446A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110573688A>G" "" "benign" "" "0000337014" "0" "10" "10" "112343591" "112343591" "subst" "0.150825" "02327" "SMC3_000034" "g.112343591G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110583833G>A" "" "benign" "" "0000337015" "0" "10" "10" "112343923" "112343923" "subst" "0.151696" "02327" "SMC3_000035" "g.112343923T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110584165T>C" "" "benign" "" "0000339304" "0" "10" "10" "112361870" "112361870" "subst" "0.996851" "02327" "SMC3_000030" "g.112361870A>G" "" "" "" "SMC3(NM_005445.4):c.3039A>G (p.S1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110602112A>G" "" "benign" "" "0000403815" "0" "70" "10" "112335102" "112335102" "subst" "0" "01323" "SMC3_000003" "g.112335102T>C" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110575344T>C" "" "likely pathogenic (dominant)" "" "0000403816" "0" "70" "10" "112341836" "112341838" "del" "0" "01323" "SMC3_000004" "g.112341836_112341838del" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "703_705delACT" "de novo, somatic mosaicism" "Somatic" "" "" "0" "" "" "g.110582078_110582080del" "" "likely pathogenic (dominant)" "" "0000403817" "0" "70" "10" "112341840" "112341840" "subst" "0" "01323" "SMC3_000005" "g.112341840G>C" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110582082G>C" "" "likely pathogenic (dominant)" "" "0000403818" "0" "70" "10" "112343196" "112343198" "dup" "0" "01323" "SMC3_000006" "g.112343196_112343198dup" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110583438_110583440dup" "" "likely pathogenic (dominant)" "" "0000403819" "0" "70" "10" "112344049" "112344051" "del" "0" "01323" "SMC3_000007" "g.112344049_112344051del" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "1200_1202delGTC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110584291_110584293del" "" "likely pathogenic (dominant)" "" "0000403820" "0" "70" "10" "112349702" "112349702" "subst" "0" "01323" "SMC3_000016" "g.112349702G>A" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110589944G>A" "" "likely pathogenic (dominant)" "" "0000403821" "1" "70" "10" "112349704" "112349706" "del" "0" "00006" "SMC3_000001" "g.112349704_112349706del" "" "{PMID:Deardorff 2007:17273969}, {OMIM606062:0001}" "" "1464_1466delAGA" "not in >350 control chromosomes; de novo in patient" "De novo" "" "" "0" "" "" "g.110589946_110589948del" "" "likely pathogenic (dominant)" "" "0000403822" "0" "70" "10" "112349704" "112349706" "del" "0" "01323" "SMC3_000008" "g.112349704_112349706del" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "1464_1466delAGA" "" "De novo" "" "" "0" "" "" "g.110589946_110589948del" "" "likely pathogenic (dominant)" "" "0000403823" "0" "70" "10" "112350221" "112350221" "subst" "0" "01323" "SMC3_000009" "g.112350221C>T" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110590463C>T" "" "likely pathogenic (dominant)" "" "0000403824" "0" "70" "10" "112356156" "112356156" "subst" "0" "01323" "SMC3_000010" "g.112356156G>A" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110596398G>A" "" "likely pathogenic (dominant)" "" "0000403825" "0" "70" "10" "112356189" "112356189" "subst" "0" "01323" "SMC3_000017" "g.112356189G>C" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110596431G>C" "" "likely pathogenic (dominant)" "" "0000403826" "0" "70" "10" "112360263" "112360268" "del" "0" "01323" "SMC3_000011" "g.112360263_112360268del" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110600505_110600510del" "" "likely pathogenic (dominant)" "" "0000403827" "0" "70" "10" "112360284" "112360284" "subst" "0" "01323" "SMC3_000012" "g.112360284C>T" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110600526C>T" "" "likely pathogenic (dominant)" "" "0000403828" "0" "70" "10" "112361500" "112361500" "subst" "0" "01323" "SMC3_000013" "g.112361500A>C" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110601742A>C" "" "likely pathogenic (dominant)" "" "0000403829" "0" "70" "10" "112362724" "112362724" "subst" "0" "01323" "SMC3_000014" "g.112362724C>G" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "De novo" "" "" "0" "" "" "g.110602966C>G" "" "likely pathogenic (dominant)" "" "0000403830" "0" "70" "10" "112364050" "112364050" "subst" "0" "01323" "SMC3_000015" "g.112364050C>T" "" "{PMID:Gil-Rodriguez 2015:25655089}, {DOI:Gil-Rodriguez 2015:10.1002/humu.22761}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110604292C>T" "" "likely pathogenic (dominant)" "" "0000403831" "1" "30" "10" "112361870" "112361870" "subst" "0.996851" "00006" "SMC3_000002" "g.112361870A>G" "" "" "" "" "" "Germline" "" "rs2419565" "0" "" "" "g.110602112A>G" "" "likely benign" "" "0000403832" "0" "90" "10" "112349704" "112349706" "del" "0" "00006" "SMC3_000001" "g.112349704_112349706del" "" "{PMID:Revenkova 2009:18996922}, {OMIM606062:0001}" "" "" "increased affinity of SMC hinge dimers for DNA binding" "In vitro (cloned)" "" "" "0" "" "" "g.110589946_110589948del" "" "NA" "" "0000408757" "0" "90" "10" "112356156" "112356156" "subst" "0" "00006" "SMC3_000010" "g.112356156G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.110596398G>A" "" "pathogenic (dominant)" "" "0000539018" "0" "30" "10" "112327597" "112327597" "subst" "0" "01943" "SMC3_000037" "g.112327597C>T" "" "" "" "SMC3(NM_005445.3):c.15+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110567839C>T" "" "likely benign" "" "0000539019" "0" "30" "10" "112337235" "112337235" "subst" "0.00353817" "01943" "SMC3_000038" "g.112337235A>G" "" "" "" "SMC3(NM_005445.3):c.255A>G (p.S85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110577477A>G" "" "likely benign" "" "0000539020" "0" "30" "10" "112337611" "112337611" "subst" "0" "01943" "SMC3_000039" "g.112337611T>C" "" "" "" "SMC3(NM_005445.3):c.289T>C (p.S97P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110577853T>C" "" "likely benign" "" "0000539021" "0" "50" "10" "112340678" "112340678" "subst" "0" "02325" "SMC3_000040" "g.112340678C>T" "" "" "" "SMC3(NM_005445.4):c.446C>T (p.T149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110580920C>T" "" "VUS" "" "0000539022" "0" "30" "10" "112341676" "112341677" "dup" "0" "01804" "SMC3_000023" "g.112341676_112341677dup" "" "" "" "SMC3(NM_005445.3):c.548-5_548-4dup (p.(=)), SMC3(NM_005445.4):c.548-5_548-4dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110581918_110581919dup" "" "likely benign" "" "0000539024" "0" "30" "10" "112350743" "112350743" "subst" "0.00116634" "01804" "SMC3_000027" "g.112350743A>G" "" "" "" "SMC3(NM_005445.3):c.1671-6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110590985A>G" "" "likely benign" "" "0000539026" "0" "30" "10" "112359472" "112359472" "subst" "0.00163299" "01943" "SMC3_000042" "g.112359472T>C" "" "" "" "SMC3(NM_005445.3):c.2329T>C (p.L777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110599714T>C" "" "likely benign" "" "0000539027" "0" "30" "10" "112360267" "112360267" "subst" "3.24907E-5" "01804" "SMC3_000043" "g.112360267A>G" "" "" "" "SMC3(NM_005445.3):c.2498A>G (p.(Asn833Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110600509A>G" "" "likely benign" "" "0000539028" "0" "10" "10" "112360894" "112360894" "subst" "0.000863199" "01943" "SMC3_000044" "g.112360894T>A" "" "" "" "SMC3(NM_005445.3):c.2644+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110601136T>A" "" "benign" "" "0000539029" "0" "70" "10" "112362634" "112362634" "subst" "0" "02327" "SMC3_000045" "g.112362634G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110602876G>A" "" "likely pathogenic" "" "0000539030" "0" "30" "10" "112362693" "112362693" "subst" "3.65806E-5" "01943" "SMC3_000046" "g.112362693G>A" "" "" "" "SMC3(NM_005445.3):c.3408G>A (p.P1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110602935G>A" "" "likely benign" "" "0000539031" "0" "50" "10" "112362950" "112362950" "subst" "1.22059E-5" "02325" "SMC3_000047" "g.112362950A>G" "" "" "" "SMC3(NM_005445.4):c.3484A>G (p.M1162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603192A>G" "" "VUS" "" "0000612252" "0" "70" "10" "112340661" "112340661" "subst" "4.06306E-6" "02327" "SMC3_000048" "g.112340661G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110580903G>C" "" "likely pathogenic" "" "0000612253" "0" "30" "10" "112349422" "112349422" "subst" "0.042421" "01804" "SMC3_000049" "g.112349422T>C" "" "" "" "SMC3(NM_005445.3):c.1365T>C (p.(Tyr455=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110589664T>C" "" "likely benign" "" "0000612254" "0" "50" "10" "112349741" "112349741" "subst" "0" "01804" "SMC3_000050" "g.112349741A>G" "" "" "" "SMC3(NM_005445.3):c.1501A>G (p.(Thr501Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110589983A>G" "" "VUS" "" "0000612255" "0" "30" "10" "112350241" "112350241" "subst" "0.00023157" "01943" "SMC3_000051" "g.112350241T>C" "" "" "" "SMC3(NM_005445.3):c.1581T>C (p.H527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110590483T>C" "" "likely benign" "" "0000612256" "0" "30" "10" "112350745" "112350745" "subst" "0.00119055" "01804" "SMC3_000052" "g.112350745T>C" "" "" "" "SMC3(NM_005445.3):c.1671-4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110590987T>C" "" "likely benign" "" "0000647845" "1" "30" "10" "112364392" "112364392" "subst" "0" "03575" "SMC3_000053" "g.112364392A>G" "13/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs117538515}" "Germline" "" "rs117538515" "0" "" "" "g.110604634A>G" "" "likely benign" "" "0000656414" "0" "30" "10" "112361879" "112361879" "subst" "0" "01943" "SMC3_000054" "g.112361879A>G" "" "" "" "SMC3(NM_005445.3):c.3048A>G (p.E1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110602121A>G" "" "likely benign" "" "0000678767" "0" "30" "10" "112360332" "112360332" "dup" "0" "01804" "SMC3_000055" "g.112360332dup" "" "" "" "SMC3(NM_005445.3):c.2535+12dupT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722665" "0" "70" "10" "112344011" "112344013" "del" "0" "02329" "SMC3_000025" "g.112344011_112344013del" "" "" "" "SMC3(NM_005445.4):c.1162_1164delAAA (p.K388del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722666" "0" "30" "10" "112362580" "112362580" "dup" "0" "01943" "SMC3_000056" "g.112362580dup" "" "" "" "SMC3(NM_005445.3):c.3298-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804286" "0" "30" "10" "112344129" "112344129" "subst" "0.000577311" "01804" "SMC3_000057" "g.112344129A>G" "" "" "" "SMC3(NM_005445.3):c.1280A>G (p.(Lys427Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861817" "0" "50" "10" "112356240" "112356240" "dup" "0" "02327" "SMC3_000058" "g.112356240dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861818" "0" "90" "10" "112359549" "112359551" "del" "0" "02329" "SMC3_000059" "g.112359549_112359551del" "" "" "" "SMC3(NM_005445.4):c.2406_2408delTGA (p.D802del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861819" "0" "50" "10" "112360243" "112360245" "del" "0" "01804" "SMC3_000060" "g.112360243_112360245del" "" "" "" "SMC3(NM_005445.3):c.2469_2471del (p.(Ile825del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861820" "0" "70" "10" "112361506" "112361506" "subst" "0" "02327" "SMC3_000061" "g.112361506C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888984" "0" "70" "10" "112340744" "112340744" "subst" "0" "02329" "SMC3_000022" "g.112340744G>A" "" "" "" "SMC3(NM_005445.4):c.512G>A (p.R171Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888985" "0" "30" "10" "112343594" "112343594" "subst" "0" "01804" "SMC3_000062" "g.112343594T>C" "" "" "" "SMC3(NM_005445.3):c.970-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913209" "0" "50" "10" "112344137" "112344137" "subst" "0" "02325" "SMC3_000063" "g.112344137A>T" "" "" "" "SMC3(NM_005445.4):c.1288A>T (p.N430Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933242" "0" "70" "10" "112360774" "112360784" "del" "0" "00006" "SMC3_000065" "g.112360774_112360784del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.110601016_110601026del" "" "likely pathogenic (dominant)" "" "0000933243" "0" "70" "10" "112341853" "112341855" "del" "0" "00006" "SMC3_000064" "g.112341853_112341855del" "" "{PMID:Yuan 2019:30158690}" "" "c.717_719del" "" "De novo" "" "" "0" "" "" "g.110582095_110582097del" "" "likely pathogenic (dominant)" "" "0000933267" "0" "70" "10" "112341720" "112341720" "subst" "0" "00006" "SMC3_000066" "g.112341720T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.110581962T>C" "" "likely pathogenic (dominant)" "" "0000933268" "0" "70" "10" "112349693" "112349695" "del" "0" "00006" "SMC3_000067" "g.112349693_112349695del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.110589935_110589937del" "" "likely pathogenic (dominant)" "" "0000933269" "0" "70" "10" "112356303" "112356303" "subst" "0" "00006" "SMC3_000068" "g.112356303T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.110596545T>C" "" "likely pathogenic (dominant)" "" "0000933270" "0" "70" "10" "112362647" "112362647" "subst" "0" "00006" "SMC3_000069" "g.112362647C>T" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.110602889C>T" "" "likely pathogenic (dominant)" "" "0000936205" "0" "70" "10" "112364052" "112364053" "del" "0" "00006" "SMC3_000070" "g.112364052_112364053del" "" "{PMID:Hamdan 2017:29100083}" "" "NM_005445:c.3642_3643del (T1214fs)" "" "De novo" "" "" "0" "" "" "g.110604294_110604295del" "" "VUS" "" "0000949339" "0" "70" "10" "112343990" "112343990" "subst" "0" "02327" "SMC3_000071" "g.112343990C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000965582" "0" "50" "10" "112343293" "112343293" "subst" "0" "02327" "SMC3_000072" "g.112343293A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978885" "0" "30" "10" "112338377" "112338377" "subst" "0.0418455" "01804" "SMC3_000073" "g.112338377T>C" "" "" "" "SMC3(NM_005445.4):c.351-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998094" "0" "50" "10" "112328777" "112328777" "subst" "1.21885E-5" "01804" "SMC3_000074" "g.112328777T>C" "" "" "" "SMC3(NM_005445.3):c.91+6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998095" "0" "30" "10" "112340659" "112340659" "dup" "0" "01804" "SMC3_000075" "g.112340659dup" "" "" "" "SMC3(NM_005445.3):c.430-3dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998096" "0" "50" "10" "112343618" "112343618" "subst" "0" "01804" "SMC3_000076" "g.112343618G>A" "" "" "" "SMC3(NM_005445.3):c.989G>A (p.(Arg330Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998097" "0" "50" "10" "112352986" "112352986" "subst" "0" "01804" "SMC3_000077" "g.112352986G>T" "" "" "" "SMC3(NM_005445.3):c.1963+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998098" "0" "70" "10" "112356279" "112356279" "subst" "0" "02329" "SMC3_000078" "g.112356279T>C" "" "" "" "SMC3(NM_005445.4):c.2087T>C (p.L696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998099" "0" "50" "10" "112360240" "112360240" "subst" "0" "01804" "SMC3_000079" "g.112360240T>C" "" "" "" "SMC3(NM_005445.3):c.2471T>C (p.(Ile824Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037713" "0" "30" "10" "112348964" "112348964" "subst" "0" "01804" "SMC3_000080" "g.112348964G>A" "" "" "" "SMC3(NM_005445.4):c.1306-399G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037714" "0" "30" "10" "112361866" "112361866" "subst" "1.21928E-5" "01804" "SMC3_000081" "g.112361866A>G" "" "" "" "SMC3(NM_005445.4):c.3035A>G (p.(Lys1012Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037715" "0" "50" "10" "112362357" "112362357" "subst" "0" "01804" "SMC3_000032" "g.112362357T>A" "" "" "" "SMC3(NM_005445.4):c.3231T>A (p.(Ser1077Arg), p.S1077R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037716" "0" "50" "10" "112362397" "112362397" "subst" "0" "01804" "SMC3_000082" "g.112362397G>A" "" "" "" "SMC3(NM_005445.4):c.3271G>A (p.(Asp1091Asn))" "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 SMC3 ## Count = 80 "{{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}}" "0000248624" "00019433" "10" "3039" "0" "3039" "0" "c.3039A>G" "r.(?)" "p.(Ser1013=)" "" "0000255262" "00019433" "30" "1671" "-6" "1671" "-6" "c.1671-6A>G" "r.(=)" "p.(=)" "" "0000298404" "00019433" "50" "3231" "0" "3231" "0" "c.3231T>A" "r.(?)" "p.(Ser1077Arg)" "" "0000298405" "00019433" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Arg171Gln)" "" "0000298406" "00019433" "10" "548" "-5" "548" "-4" "c.548-5_548-4dup" "r.spl?" "p.?" "" "0000298407" "00019433" "30" "724" "-6" "724" "-6" "c.724-6dup" "r.(=)" "p.(=)" "" "0000308629" "00019433" "30" "2007" "0" "2007" "0" "c.2007T>C" "r.(?)" "p.(Tyr669=)" "" "0000337013" "00019433" "10" "92" "-19" "92" "-19" "c.92-19A>G" "r.(=)" "p.(=)" "" "0000337014" "00019433" "10" "970" "-8" "970" "-8" "c.970-8G>A" "r.(=)" "p.(=)" "" "0000337015" "00019433" "10" "1092" "-18" "1092" "-18" "c.1092-18T>C" "r.(=)" "p.(=)" "" "0000339304" "00019433" "10" "3039" "0" "3039" "0" "c.3039A>G" "r.(?)" "p.(Ser1013=)" "" "0000403815" "00019433" "70" "139" "0" "139" "0" "c.139T>C" "r.(?)" "p.(Phe47Leu)" "4" "0000403816" "00019433" "70" "703" "0" "705" "0" "c.703_705del" "r.(?)" "p.(Thr235del)" "9" "0000403817" "00019433" "70" "707" "0" "707" "0" "c.707G>C" "r.(?)" "p.(Arg236Pro)" "9" "0000403818" "00019433" "70" "859" "0" "861" "0" "c.859_861dup" "r.(?)" "p.(Glu287dup)" "11" "0000403819" "00019433" "70" "1200" "0" "1202" "0" "c.1200_1202del" "r.(?)" "p.(Lys400_Ser401delinsAsn)" "13" "0000403820" "00019433" "70" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Glu488Lys)" "15" "0000403821" "00019433" "70" "1464" "0" "1466" "0" "c.1464_1466del" "r.(?)" "p.(Glu488del)" "15" "0000403822" "00019433" "70" "1464" "0" "1466" "0" "c.1464_1466del" "r.(?)" "p.(Glu488del)" "15" "0000403823" "00019433" "70" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521*)" "16" "0000403824" "00019433" "70" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Asp)" "19" "0000403825" "00019433" "70" "1997" "0" "1997" "0" "c.1997G>C" "r.(?)" "p.(Gly666Ala)" "19" "0000403826" "00019433" "70" "2494" "0" "2499" "0" "c.2494_2499del" "r.(?)" "p.(Leu832_Asn833del)" "22" "0000403827" "00019433" "70" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Arg839Cys)" "22" "0000403828" "00019433" "70" "2750" "0" "2750" "0" "c.2750A>C" "r.(?)" "p.(His917Pro)" "24" "0000403829" "00019433" "70" "3439" "0" "3439" "0" "c.3439C>G" "r.(?)" "p.(Gln1147Glu)" "27" "0000403830" "00019433" "70" "3644" "0" "3644" "0" "c.3644C>T" "r.(?)" "p.(Thr1215Ile)" "29" "0000403831" "00019433" "30" "3039" "0" "3039" "0" "c.3039A>G" "r.(?)" "p.(=)" "25" "0000403832" "00019433" "90" "1464" "0" "1466" "0" "c.1464_1466del" "r.(?)" "p.Glu488del" "15" "0000408757" "00019433" "90" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Gly655Asp)" "19" "0000539018" "00019433" "30" "15" "8" "15" "8" "c.15+8C>T" "r.(=)" "p.(=)" "" "0000539019" "00019433" "30" "255" "0" "255" "0" "c.255A>G" "r.(?)" "p.(Ser85=)" "" "0000539020" "00019433" "30" "289" "0" "289" "0" "c.289T>C" "r.(?)" "p.(Ser97Pro)" "" "0000539021" "00019433" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Thr149Ile)" "" "0000539022" "00019433" "30" "548" "-5" "548" "-4" "c.548-5_548-4dup" "r.spl?" "p.?" "" "0000539024" "00019433" "30" "1671" "-6" "1671" "-6" "c.1671-6A>G" "r.(=)" "p.(=)" "" "0000539026" "00019433" "30" "2329" "0" "2329" "0" "c.2329T>C" "r.(?)" "p.(Leu777=)" "" "0000539027" "00019433" "30" "2498" "0" "2498" "0" "c.2498A>G" "r.(?)" "p.(Asn833Ser)" "" "0000539028" "00019433" "10" "2644" "6" "2644" "6" "c.2644+6T>A" "r.(=)" "p.(=)" "" "0000539029" "00019433" "70" "3349" "0" "3349" "0" "c.3349G>A" "r.(?)" "p.(Gly1117Ser)" "" "0000539030" "00019433" "30" "3408" "0" "3408" "0" "c.3408G>A" "r.(?)" "p.(Pro1136=)" "" "0000539031" "00019433" "50" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Met1162Val)" "" "0000612252" "00019433" "70" "430" "-1" "430" "-1" "c.430-1G>C" "r.spl?" "p.?" "" "0000612253" "00019433" "30" "1365" "0" "1365" "0" "c.1365T>C" "r.(?)" "p.(Tyr455=)" "" "0000612254" "00019433" "50" "1501" "0" "1501" "0" "c.1501A>G" "r.(?)" "p.(Thr501Ala)" "" "0000612255" "00019433" "30" "1581" "0" "1581" "0" "c.1581T>C" "r.(?)" "p.(His527=)" "" "0000612256" "00019433" "30" "1671" "-4" "1671" "-4" "c.1671-4T>C" "r.spl?" "p.?" "" "0000647845" "00019433" "30" "3986" "0" "3986" "0" "c.*332A>G" "r.(=)" "p.(=)" "" "0000656414" "00019433" "30" "3048" "0" "3048" "0" "c.3048A>G" "r.(?)" "p.(Glu1016=)" "" "0000678767" "00019433" "30" "2535" "28" "2535" "28" "c.2535+28dup" "r.(=)" "p.(=)" "" "0000722665" "00019433" "70" "1162" "0" "1164" "0" "c.1162_1164del" "r.(?)" "p.(Lys388del)" "" "0000722666" "00019433" "30" "3298" "-3" "3298" "-3" "c.3298-3dup" "r.spl?" "p.?" "" "0000804286" "00019433" "30" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Lys427Arg)" "" "0000861817" "00019433" "50" "2048" "0" "2048" "0" "c.2048dup" "r.(?)" "p.(Ala685Serfs*7)" "" "0000861818" "00019433" "90" "2406" "0" "2408" "0" "c.2406_2408del" "r.(?)" "p.(Asp802del)" "" "0000861819" "00019433" "50" "2474" "0" "2476" "0" "c.2474_2476del" "r.(?)" "p.(Ile825del)" "" "0000861820" "00019433" "70" "2756" "0" "2756" "0" "c.2756C>A" "r.(?)" "p.(Thr919Asn)" "" "0000888984" "00019433" "70" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Arg171Gln)" "" "0000888985" "00019433" "30" "970" "-5" "970" "-5" "c.970-5T>C" "r.spl?" "p.?" "" "0000913209" "00019433" "50" "1288" "0" "1288" "0" "c.1288A>T" "r.(?)" "p.(Asn430Tyr)" "" "0000933242" "00019433" "70" "2536" "-6" "2540" "0" "c.2536-6_2540del" "r.spl" "p.?" "22i_23" "0000933243" "00019433" "70" "720" "0" "722" "0" "c.720_722del" "r.(?)" "p.(Asp240del)" "9" "0000933267" "00019433" "70" "587" "0" "587" "0" "c.587T>C" "r.(?)" "p.(Ile196Thr)" "9" "0000933268" "00019433" "70" "1453" "0" "1455" "0" "c.1453_1455del" "r.(?)" "p.(Ala485del)" "15" "0000933269" "00019433" "70" "2111" "0" "2111" "0" "c.2111T>C" "r.(?)" "p.(Ile704Thr)" "19" "0000933270" "00019433" "70" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Ser1121Phe)" "27" "0000936205" "00019433" "70" "3646" "0" "3647" "0" "c.3646_3647del" "r.(?)" "p.(His1216Trpfs*18)" "" "0000949339" "00019433" "70" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381*)" "" "0000965582" "00019433" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Asn319Ser)" "" "0000978885" "00019433" "30" "351" "-9" "351" "-9" "c.351-9T>C" "r.(=)" "p.(=)" "" "0000998094" "00019433" "50" "91" "6" "91" "6" "c.91+6T>C" "r.(=)" "p.(=)" "" "0000998095" "00019433" "30" "430" "-3" "430" "-3" "c.430-3dup" "r.spl?" "p.?" "" "0000998096" "00019433" "50" "989" "0" "989" "0" "c.989G>A" "r.(?)" "p.(Arg330Lys)" "" "0000998097" "00019433" "50" "1963" "5" "1963" "5" "c.1963+5G>T" "r.spl?" "p.?" "" "0000998098" "00019433" "70" "2087" "0" "2087" "0" "c.2087T>C" "r.(?)" "p.(Leu696Pro)" "" "0000998099" "00019433" "50" "2471" "0" "2471" "0" "c.2471T>C" "r.(?)" "p.(Ile824Thr)" "" "0001037713" "00019433" "30" "1306" "-399" "1306" "-399" "c.1306-399G>A" "r.(=)" "p.(=)" "" "0001037714" "00019433" "30" "3035" "0" "3035" "0" "c.3035A>G" "r.(?)" "p.(Lys1012Arg)" "" "0001037715" "00019433" "50" "3231" "0" "3231" "0" "c.3231T>A" "r.(?)" "p.(Ser1077Arg)" "" "0001037716" "00019433" "50" "3271" "0" "3271" "0" "c.3271G>A" "r.(?)" "p.(Asp1091Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000180341" "0000403815" "0000180342" "0000403816" "0000180343" "0000403817" "0000180344" "0000403818" "0000180345" "0000403819" "0000180346" "0000403820" "0000180347" "0000403821" "0000180348" "0000403822" "0000180349" "0000403823" "0000180350" "0000403824" "0000180351" "0000403825" "0000180352" "0000403826" "0000180353" "0000403827" "0000180354" "0000403828" "0000180355" "0000403829" "0000180356" "0000403830" "0000184634" "0000408757" "0000291156" "0000647845" "0000437824" "0000933242" "0000437825" "0000933243" "0000437849" "0000933267" "0000437850" "0000933268" "0000437851" "0000933269" "0000437852" "0000933270" "0000440047" "0000936205"