### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C1R) # 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}}" "C1R" "complement component 1, r subcomponent" "12" "p13.31" "unknown" "NC_000012.11" "UD_136057738694" "" "https://www.LOVD.nl/C1SR" "" "1" "1246" "715" "613785" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:04:42" "00000" "2025-11-01 13:22:20" ## 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}}" "00003658" "C1R" "complement component 1, r subcomponent" "001" "NM_001733.4" "" "NP_001724.3" "" "" "" "809" "1901" "1578" "7188605" "7187513" "" "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}}" "00169" "EDS" "Ehlers-Danlos syndrome (EDS)" "" "" "" "" "" "00006" "2013-08-01 11:03:44" "00006" "2021-12-10 21:51:32" "01716" "C1SD" "complement component c1r/c1s deficiency (C1SD)" "" "216950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05784" "EDSCL1" "Ehlers-Danlos, classic syndrome, type 1 (EDSCL1 EDS1)" "AD" "130000" "" "" "" "00006" "2020-07-09 19:45:04" "00006" "2021-12-10 21:51:32" "06174" "EDSPD2" "Ehlers-Danlos syndrome, periodontal type, 2" "AD" "617174" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07011" "EDSPD1" "Ehlers-Danlos syndrome, periodontal type, 1" "AD" "130080" "" "" "" "00006" "2023-05-01 17:52:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "C1R" "01716" "C1R" "07011" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00362000" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat3AB" "00435001" "" "" "" "1" "" "04419" "{PMID:Stock et al., 2021:33498938}" "German family with classical EDS was investigated. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of cEDS with a heterozygous mutation in COL5A1. An additional diagnosis of periodontal EDS was suspected and genetic analysis revealed a novel missense mutation in C1R in a heterozygous state." "F" "no" "Germany" "" "" "" "" "" "IV-2" "00435003" "" "" "" "1" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435006" "" "" "" "4" "" "04497" "{PMID:Kapferer-Seebacher 2021:33005042}, {DOI:Kapferer-Seebacher 2021:10.1038/s41436-020-00985-y}, {DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435014" "" "" "" "1" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435016" "" "" "" "2" "" "04497" "{PMID:Kapferer-Seebacher 2021:33005042}, {DOI:Kapferer-Seebacher 2021:10.1038/s41436-020-00985-y}, {DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435019" "" "" "" "1" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435020" "" "" "" "1" "" "04497" "{PMID:Kapferer-Seebacher 2021:33005042}, {DOI:Kapferer-Seebacher 2021:10.1038/s41436-020-00985-y}, {DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435022" "" "" "" "1" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435023" "" "" "" "1" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435024" "" "" "" "2" "" "04497" "{PMID:Kapferer-Seebacher 2021:33005042}, {DOI:Kapferer-Seebacher 2021:10.1038/s41436-020-00985-y}, {DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435025" "" "" "" "2" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435037" "" "" "" "2" "" "04497" "{PMID:Kapferer-Seebacher 2021:33005042}, {DOI:Kapferer-Seebacher 2021:10.1038/s41436-020-00985-y}, {DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435039" "" "" "" "2" "" "04497" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "" "" "0" "" "" "" "" "00435331" "" "" "" "1" "" "04419" "{PMID:Grobner et al., 2019:31749804}" "" "?" "no" "Australia" "" "0" "" "" "" "1" "00435332" "" "" "" "1" "" "04419" "{PMID:Kapferer-Seebacher 2016:27745832}, {DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}" "" "F" "no" "" "" "0" "" "" "" "Fam2" "00435333" "" "" "" "1" "" "04419" "{PMID:Kapferer-Seebacher 2016:27745832}, {DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}" "" "F" "no" "" "" "0" "" "" "" "Fam3" "00435375" "" "" "" "1" "" "00006" "{PMID:Kapferer-Seebacher 2019:30535813}, {DOI:Kapferer-Seebacher 2019:10.1007/s10048-018-0560-x}" "4-generation family, 6 affected, 3 C1R variant (F, 2M))" "F;M" "" "Netherlands" "" "0" "" "" "" "FamA" "00435376" "" "" "" "7" "" "00006" "{PMID:Kapferer-Seebacher 2019:30535813}, {DOI:Kapferer-Seebacher 2019:10.1007/s10048-018-0560-x}" "5-generation family, 10 affected, 7 with C1R variant (4F, 3M)" "F;M" "" "Netherlands" "" "0" "" "" "" "FamB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00362000" "04214" "00435001" "05784" "00435001" "06174" "00435003" "06174" "00435006" "06174" "00435014" "06174" "00435016" "06174" "00435019" "06174" "00435020" "06174" "00435022" "06174" "00435023" "06174" "00435024" "06174" "00435025" "06174" "00435037" "06174" "00435039" "06174" "00435331" "07011" "00435332" "07011" "00435333" "07011" "00435375" "00169" "00435376" "00169" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00169, 01716, 04214, 05784, 06174, 07011 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000257393" "04214" "00362000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "0000325243" "05784" "00435001" "04419" "Familial" "05y" "Bilateral club feet, bilateral pes adductus, central coordination disturbance, and asymmetry of posture and tonus were noted and retrospectively attributed to joint hypermobility. Hypermobility of the ankles as a baby, recurring luxation of the patella and chronic joint pain at the age of four years, bluish discolorations on her shins and forearms, skin was very soft and hyperelastic; multiple subcutaneous papules and few atrophic scars." "" "" "" "" "" "" "" "" "" "" "" "" "cEDS" "0000325244" "06174" "00435001" "04419" "Isolated (sporadic)" "05y" "Premature loss of two lower incisors at four years of age, primary dentition with missing teeth 71 and 81. Gingival inflammation and probing pocket depths ≤3 mm. Furcation involvement grade III was diagnosed for deciduous molars 54, 64, 74, and 84. Lack of attached gingiva and severe gingival recession up to 6 mm was found for all primary teeth except the lower second molars." "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325253" "06174" "00435006" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325257" "06174" "00435014" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325258" "06174" "00435016" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325261" "06174" "00435019" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325262" "06174" "00435020" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325264" "06174" "00435022" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325265" "06174" "00435023" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325266" "06174" "00435024" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325267" "06174" "00435025" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325277" "06174" "00435037" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325278" "06174" "00435039" "04497" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Periodontal Ehlers Danlos Syndrome" "" "0000325528" "07011" "00435331" "04419" "Familial" "" "early severe and rapidly progressing periodontal destruction and variable connective tissue abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325529" "07011" "00435332" "04419" "Familial" "" "early severe and rapidly progressing periodontal destruction and variable connective tissue abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325530" "07011" "00435333" "04419" "Familial" "" "early severe and rapidly progressing periodontal destruction and variable connective tissue abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000325569" "00169" "00435375" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "pEDS" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000363228" "00362000" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436474" "00435001" "1" "04419" "04419" "2023-04-19 02:05:43" "" "" "SEQ;SEQ-NG-I" "DNA" "Peripheral blood" "" "0000436476" "00435003" "1" "04497" "04497" "2023-04-19 11:41:27" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436479" "00435006" "1" "04497" "04497" "2023-04-19 15:48:26" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436487" "00435014" "1" "04497" "04497" "2023-04-19 16:41:06" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436489" "00435016" "1" "04497" "04497" "2023-04-19 16:47:58" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436492" "00435019" "1" "04497" "04497" "2023-04-19 17:12:44" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436493" "00435020" "1" "04497" "04497" "2023-04-19 17:22:58" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436495" "00435022" "1" "04497" "04497" "2023-04-19 17:38:31" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436496" "00435023" "1" "04497" "04497" "2023-04-19 17:40:53" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436497" "00435024" "1" "04497" "04497" "2023-04-19 17:57:22" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436498" "00435025" "1" "04497" "04497" "2023-04-19 18:04:45" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436510" "00435037" "1" "04497" "04497" "2023-04-27 14:46:37" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436511" "00435039" "1" "04497" "04497" "2023-04-27 15:18:15" "00006" "2023-05-01 15:45:21" "SEQ" "DNA" "" "" "0000436812" "00435331" "1" "04419" "04419" "2023-07-10 04:22:18" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000436813" "00435332" "1" "04419" "04419" "2023-07-10 04:36:10" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000436814" "00435333" "1" "04419" "04419" "2023-07-10 04:46:25" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000436855" "00435375" "1" "00006" "00006" "2023-07-21 15:48:23" "" "" "SEQ" "DNA" "" "" "0000436856" "00435376" "1" "00006" "00006" "2023-07-21 15:53:24" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{geneid}}" "0000436474" "C1R" "0000436474" "COL5A1" "0000436476" "C1R" "0000436476" "C1S" "0000436479" "C1R" "0000436479" "C1S" "0000436487" "C1R" "0000436487" "C1S" "0000436489" "C1R" "0000436489" "C1S" "0000436492" "C1R" "0000436492" "C1S" "0000436493" "C1R" "0000436493" "C1S" "0000436495" "C1R" "0000436495" "C1S" "0000436496" "C1R" "0000436496" "C1S" "0000436497" "C1R" "0000436497" "C1S" "0000436498" "C1R" "0000436498" "C1S" "0000436510" "C1R" "0000436510" "C1S" "0000436511" "C1R" "0000436511" "C1S" "0000436812" "C1R" "0000436813" "C1R" "0000436814" "C1R" "0000436855" "C1R" "0000436856" "C1R" ## 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 = 64 "{{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}}" "0000268028" "0" "90" "12" "7241318" "7241318" "subst" "0" "02329" "C1R_000003" "g.7241318C>A" "" "" "" "C1R(NM_001733.7):c.926G>T (p.C309F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7088722C>A" "" "pathogenic" "" "0000269423" "0" "10" "12" "7188562" "7188562" "subst" "0.0390019" "02326" "C1R_000002" "g.7188562G>T" "" "" "" "C1R(NM_001354346.2):c.1202C>A (p.S401Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7091654G>T" "" "benign" "" "0000269424" "0" "30" "12" "7244042" "7244042" "subst" "0.000884178" "02326" "C1R_000007" "g.7244042C>T" "" "" "" "C1R(NM_001354346.2):c.273+6G>A, C1R(NM_001733.7):c.231+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7091446C>T" "" "likely benign" "" "0000269425" "0" "30" "12" "7242010" "7242010" "subst" "0.000605149" "02326" "C1R_000005" "g.7242010G>C" "" "" "" "C1R(NM_001354346.1):c.689C>G (p.P230R), C1R(NM_001354346.2):c.689C>G (p.P230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7089414G>C" "" "likely benign" "" "0000269426" "0" "30" "12" "7241975" "7241975" "subst" "9.78131E-5" "02326" "C1R_000004" "g.7241975G>A" "" "" "" "C1R(NM_001354346.2):c.724C>T (p.R242W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7089379G>A" "" "likely benign" "" "0000272260" "0" "50" "12" "7242740" "7242740" "subst" "0.00283441" "01943" "C1R_000006" "g.7242740C>G" "" "" "" "C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7090144C>G" "" "VUS" "" "0000272261" "0" "30" "12" "7244252" "7244252" "subst" "0.003009" "01943" "C1R_000008" "g.7244252C>T" "" "" "" "C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7091656C>T" "" "likely benign" "" "0000272264" "0" "30" "12" "7187753" "7187753" "subst" "0" "01943" "C1R_000001" "g.7187753G>A" "" "" "" "C1R(NM_001354346.1):c.*83C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7091485C>A" "" "likely benign" "" "0000549126" "0" "90" "12" "7241318" "7241318" "subst" "0" "02325" "C1R_000009" "g.7241318C>T" "" "" "" "C1R(NM_001733.6):c.926G>A (p.C309Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7088722C>T" "" "pathogenic" "" "0000549127" "0" "10" "12" "7242299" "7242299" "subst" "0.231253" "02329" "C1R_000010" "g.7242299G>A" "" "" "" "C1R(NM_001733.7):c.455C>T (p.S152L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7089703G>A" "" "benign" "" "0000657196" "0" "30" "12" "7241884" "7241884" "subst" "6.97241E-5" "02325" "C1R_000011" "g.7241884T>G" "" "" "" "C1R(NM_001733.6):c.768+5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7089288T>G" "" "likely benign" "" "0000657197" "0" "50" "12" "7242657" "7242657" "subst" "0.00012369" "02325" "C1R_000012" "g.7242657G>A" "" "" "" "C1R(NM_001733.6):c.419C>T (p.A140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7090061G>A" "" "VUS" "" "0000679642" "0" "30" "12" "7242740" "7242740" "subst" "0.00283441" "02325" "C1R_000006" "g.7242740C>G" "" "" "" "C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691427" "0" "30" "12" "7244286" "7244286" "subst" "0.000824775" "01943" "C1R_000013" "g.7244286C>T" "" "" "" "C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724234" "0" "50" "12" "7188338" "7188338" "subst" "0" "01943" "C1R_000014" "g.7188338C>T" "" "" "" "C1R(NM_001354346.1):c.1426G>A (p.E476K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724235" "0" "30" "12" "7242010" "7242010" "subst" "0.000605149" "01943" "C1R_000005" "g.7242010G>C" "" "" "" "C1R(NM_001354346.1):c.689C>G (p.P230R), C1R(NM_001354346.2):c.689C>G (p.P230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763719" "0" "50" "12" "7242224" "7242224" "subst" "0.000130333" "00000" "C1R_000015" "g.7242224C>T" "" "{PMID:Duvvari 2016:27007659}" "" "530C>T" "" "Germline" "" "" "0" "" "" "g.7089628C>T" "" "VUS" "" "0000805939" "0" "30" "12" "7241475" "7241475" "subst" "1.66556E-5" "02329" "C1R_000016" "g.7241475C>G" "" "" "" "C1R(NM_001354346.2):c.918G>C (p.S306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853522" "0" "30" "12" "7249349" "7249349" "subst" "0.000321737" "01943" "C1R_000017" "g.7249349G>A" "" "" "" "C1RL(NM_016546.4):c.1102C>T (p.R368C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853523" "0" "50" "12" "7249439" "7249439" "subst" "2.11168E-5" "01943" "C1R_000018" "g.7249439C>T" "" "" "" "C1RL(NM_016546.4):c.1012G>A (p.G338R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863132" "0" "30" "12" "7242740" "7242740" "subst" "0.00283441" "02326" "C1R_000006" "g.7242740C>G" "" "" "" "C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890782" "0" "30" "12" "7187848" "7187848" "subst" "0.00455404" "02326" "C1R_000019" "g.7187848C>T" "" "" "" "C1R(NM_001354346.2):c.1916G>A (p.R639Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890783" "0" "30" "12" "7189415" "7189415" "subst" "0.000211762" "02326" "C1R_000020" "g.7189415G>A" "" "" "" "C1R(NM_001354346.2):c.1082-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890784" "0" "30" "12" "7189427" "7189427" "subst" "0.000204906" "02326" "C1R_000021" "g.7189427C>T" "" "" "" "C1R(NM_001354346.2):c.1082-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890785" "0" "10" "12" "7242039" "7242039" "subst" "0.0016927" "02326" "C1R_000022" "g.7242039G>A" "" "" "" "C1R(NM_001354346.2):c.660C>T (p.S220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890786" "0" "30" "12" "7242799" "7242799" "subst" "0.000300496" "02329" "C1R_000023" "g.7242799C>A" "" "" "" "C1R(NM_001733.7):c.277G>T (p.G93C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890787" "0" "30" "12" "7244252" "7244252" "subst" "0.003009" "02326" "C1R_000008" "g.7244252C>T" "" "" "" "C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890788" "0" "10" "12" "7244252" "7244252" "subst" "0.003009" "02329" "C1R_000008" "g.7244252C>T" "" "" "" "C1R(NM_001354346.1):c.69G>A (p.P23=), C1R(NM_001354346.2):c.69G>A (p.P23=), C1R(NM_001733.7):c.27G>A (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890789" "0" "30" "12" "7244286" "7244286" "subst" "0.000824775" "02326" "C1R_000013" "g.7244286C>T" "" "" "" "C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913951" "0" "30" "12" "7244255" "7244255" "subst" "9.63907E-5" "02326" "C1R_000024" "g.7244255C>A" "" "" "" "C1R(NM_001354346.2):c.66G>T (p.V22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925699" "0" "30" "12" "7188474" "7188474" "subst" "0.000126053" "02326" "C1R_000025" "g.7188474C>T" "" "" "" "C1R(NM_001354346.2):c.1290G>A (p.R430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925700" "0" "50" "12" "7241475" "7241475" "subst" "0.000104097" "02325" "C1R_000026" "g.7241475C>T" "" "" "" "C1R(NM_001733.6):c.876G>A (p.S292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927462" "0" "77" "12" "7241999" "7241999" "subst" "0" "04419" "C1R_000035" "g.7241999A>C" "" "{PMID:Stock et al., 2021:33498938}" "" "" "Predicted to replace a highly conserved cysteine residue with glycine in the “R” subunit of the C1r protein, Heterozygous missense variant.\r\n\r\nNot listed in gnomAD, ClinVar or HGMD. MutationTaster, fathmm, Mutation Assessor, SIFT, fathmm-MKL coding, LRT, and PROVEAN consistently consider this variant as pathogenic." "De novo" "yes" "" "0" "" "" "g.7089403A>C" "" "likely pathogenic" "other" "0000927464" "0" "90" "12" "7241950" "7241950" "subst" "0" "04497" "C1R_000033" "g.7241950A>G" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7089354A>G" "" "pathogenic (dominant)" "" "0000927471" "0" "90" "12" "7241968" "7241968" "subst" "0" "04497" "C1R_000034" "g.7241968A>G" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "Phe236Ser" "" "Germline" "" "" "0" "" "" "g.7089372A>G" "" "pathogenic (dominant)" "" "0000927475" "0" "90" "12" "7189379" "7189379" "subst" "0" "04497" "C1R_000029" "g.7189379C>T" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7086423C>T" "" "pathogenic (dominant)" "" "0000927476" "0" "90" "12" "7241946" "7241955" "delins" "0" "04497" "C1R_000032" "g.7241946_7241955delinsA" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7089350_7089359delinsA" "" "pathogenic (dominant)" "" "0000927478" "0" "90" "12" "7241318" "7241318" "subst" "0" "04497" "C1R_000009" "g.7241318C>T" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7088722C>T" "" "pathogenic (dominant)" "" "0000927479" "0" "90" "12" "7241482" "7241482" "subst" "0" "04497" "C1R_000031" "g.7241482T>C" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7088886T>C" "" "pathogenic (dominant)" "" "0000927480" "0" "90" "12" "7189345" "7189345" "subst" "0" "04497" "C1R_000027" "g.7189345A>G" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "g.7188383A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7082041A>G" "" "pathogenic" "" "0000927481" "0" "90" "12" "7242029" "7242029" "subst" "0" "04497" "C1R_000036" "g.7242029A>C" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7089433A>C" "" "pathogenic" "" "0000927482" "0" "90" "12" "7189339" "7189339" "subst" "0" "04497" "C1R_000028" "g.7189339G>C" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7086383G>C" "" "pathogenic" "" "0000927483" "0" "90" "12" "7189379" "7189379" "subst" "0" "04497" "C1R_000030" "g.7189379C>A" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7086423C>A" "" "pathogenic" "" "0000927496" "0" "90" "12" "7244129" "7244130" "delins" "0" "04497" "C1R_000037" "g.7244129_7244130delinsAT" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7091533_7091534delinsAT" "" "pathogenic" "" "0000927498" "0" "90" "12" "7189338" "7189411" "del" "0" "04497" "C1R_000038" "g.(7188609_7189338)_(7189411_7193164)del" "" "{DOI:Angwin 2023:10.3389/fgene.2023.1136339}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(7081305_7082034)_(7082107_7085860)del" "" "likely pathogenic" "" "0000930146" "0" "30" "12" "7242740" "7242740" "subst" "0.00283441" "02329" "C1R_000006" "g.7242740C>G" "" "" "" "C1R(NM_001354346.1):c.378G>C (p.M126I), C1R(NM_001354346.2):c.378G>C (p.M126I), C1R(NM_001733.6):c.336G>C (p.M112I), C1R(NM_001733.7):c.336G>C (p....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931478" "0" "70" "12" "7242799" "7242799" "subst" "0.000300496" "04419" "C1R_000023" "g.7242799C>A" "" "{PMID:Grobner et al., 2019:31749804}" "" "" "study involves functional analysis" "Germline" "yes" "" "0" "" "" "g.7090203C>A" "{CV:VCV000597277}" "likely pathogenic" "ACMG" "0000931479" "0" "70" "12" "7241482" "7241482" "subst" "0" "04419" "C1R_000031" "g.7241482T>C" "" "{PMID:Kapferer-Seebacher 2016:27745832}, {DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}, {PMID:Grobner 2019:31749804}" "" "" "functional analysis in Grobner 2019" "Germline" "yes" "" "0" "" "" "g.7088886T>C" "{CV:VCV000267356}" "likely pathogenic (dominant)" "ACMG" "0000931480" "0" "70" "12" "7241461" "7241461" "subst" "0" "04419" "C1R_000039" "g.7241461C>T" "" "{PMID:Kapferer-Seebacher 2016:27745832}, {DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}, {PMID:Grobner 2019:31749804}" "" "" "functional analysis in Grobner 2019" "Germline" "" "" "0" "" "" "g.7088865C>T" "{CV:VCV000372129}" "likely pathogenic (dominant)" "ACMG" "0000931527" "1" "70" "12" "7241318" "7241318" "subst" "0" "00006" "C1R_000003" "g.7241318C>A" "" "{PMID:Kapferer-Seebacher 2019:30535813}, {DOI:Kapferer-Seebacher 2019:10.1007/s10048-018-0560-x}, {PMID:Grobner 2019:31749804}" "" "" "functional analysis in Grobner 2019" "Germline" "" "" "0" "" "" "g.7088722C>A" "" "pathogenic (dominant)" "" "0000931528" "1" "90" "12" "7244129" "7244130" "delins" "0" "00006" "C1R_000037" "g.7244129_7244130delinsAT" "" "{PMID:Kapferer-Seebacher 2019:30535813}, {DOI:Kapferer-Seebacher 2019:10.1007/s10048-018-0560-x}, {PMID:Grobner 2019:31749804}" "" "149_150TC>AT" "functional analysis in Grobner 2019" "Germline" "yes" "" "0" "" "" "g.7091533_7091534delinsAT" "" "pathogenic (dominant)" "" "0000950031" "0" "10" "12" "7244042" "7244042" "subst" "0.000884178" "02329" "C1R_000007" "g.7244042C>T" "" "" "" "C1R(NM_001354346.2):c.273+6G>A, C1R(NM_001733.7):c.231+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967077" "0" "30" "12" "7189342" "7189342" "subst" "0" "02329" "C1R_000040" "g.7189342A>G" "" "" "" "C1R(NM_001733.7):c.1110T>C (p.S370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967080" "0" "30" "12" "7242942" "7242942" "subst" "0" "02329" "C1R_000041" "g.7242942C>T" "" "" "" "C1R(NM_001733.7):c.232-98G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980456" "0" "30" "12" "7188377" "7188377" "subst" "8.93401E-5" "01804" "C1R_000042" "g.7188377A>G" "" "" "" "C1R(NM_001733.7):c.1343T>C (p.(Val448Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980457" "0" "10" "12" "7188427" "7188427" "subst" "0.00120219" "02329" "C1R_000043" "g.7188427G>A" "" "" "" "C1R(NM_001733.7):c.1295C>T (p.P432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000987718" "0" "30" "12" "7241530" "7241530" "subst" "0" "03779" "C1R_000044" "g.7241530G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555164462" "0" "" "" "" "" "likely benign" "" "0001000324" "0" "50" "12" "7241986" "7241986" "subst" "0" "01804" "C1R_000045" "g.7241986A>C" "" "" "" "C1R(NM_001733.4):c.671T>G (p.(Ile224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000325" "0" "30" "12" "7242001" "7242001" "subst" "8.16027E-6" "01804" "C1R_000046" "g.7242001C>T" "" "" "" "C1R(NM_001733.4):c.656G>A (p.(Arg219His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000326" "0" "30" "12" "7242710" "7242710" "subst" "6.22675E-5" "02329" "C1R_000047" "g.7242710G>A" "" "" "" "C1R(NM_001733.7):c.366C>T (p.N122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026231" "0" "30" "12" "7244286" "7244286" "subst" "0.000824775" "02329" "C1R_000013" "g.7244286C>T" "" "" "" "C1R(NM_001354346.1):c.45-10G>A, C1R(NM_001354346.2):c.45-10G>A, C1R(NM_001733.7):c.3-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039455" "0" "30" "12" "7188114" "7188114" "subst" "5.68837E-5" "01804" "C1R_000048" "g.7188114C>T" "" "" "" "C1R(NM_001733.7):c.1840G>A (p.(Val614Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039456" "0" "30" "12" "7244382" "7244382" "subst" "0.00509084" "01804" "C1R_000049" "g.7244382C>A" "" "" "" "C1R(NM_001354346.2):c.31G>T (p.(Glu11*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054232" "0" "30" "12" "7241450" "7241450" "subst" "" "01804" "chr12_009116" "g.7241450G>A" "" "" "" "C1R(NM_001733.7):c.901C>T (p.(Arg301Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 C1R ## Count = 64 "{{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}}" "0000268028" "00003658" "90" "926" "0" "926" "0" "c.926G>T" "r.(?)" "p.(Cys309Phe)" "" "0000269423" "00003658" "10" "1158" "0" "1158" "0" "c.1158C>A" "r.(?)" "p.(=)" "" "0000269424" "00003658" "30" "231" "6" "231" "6" "c.231+6G>A" "r.(=)" "p.(=)" "" "0000269425" "00003658" "30" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000269426" "00003658" "30" "682" "0" "682" "0" "c.682C>T" "r.(?)" "p.(Arg228Trp)" "" "0000272260" "00003658" "50" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Met112Ile)" "" "0000272261" "00003658" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(=)" "" "0000272264" "00003658" "30" "1661" "0" "1661" "0" "c.*83C>T" "r.(=)" "p.(=)" "" "0000549126" "00003658" "90" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Cys309Tyr)" "" "0000549127" "00003658" "10" "455" "0" "455" "0" "c.455C>T" "r.(?)" "p.(Ser152Leu)" "" "0000657196" "00003658" "30" "768" "5" "768" "5" "c.768+5A>C" "r.spl?" "p.?" "" "0000657197" "00003658" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ala140Val)" "" "0000679642" "00003658" "30" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Met112Ile)" "" "0000691427" "00003658" "30" "3" "-10" "3" "-10" "c.3-10G>A" "r.(=)" "p.(=)" "" "0000724234" "00003658" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461Lys)" "" "0000724235" "00003658" "30" "647" "0" "647" "0" "c.647C>G" "r.(?)" "p.(Pro216Arg)" "" "0000763719" "00003658" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177His)" "" "0000805939" "00003658" "30" "876" "0" "876" "0" "c.876G>C" "r.(?)" "p.(=)" "" "0000853522" "00003658" "30" "-4365" "0" "-4365" "0" "c.-4365C>T" "r.(?)" "p.(=)" "" "0000853523" "00003658" "50" "-4455" "0" "-4455" "0" "c.-4455G>A" "r.(?)" "p.(=)" "" "0000863132" "00003658" "30" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Met112Ile)" "" "0000890782" "00003658" "30" "1872" "0" "1872" "0" "c.1872G>A" "r.(?)" "p.(=)" "" "0000890783" "00003658" "30" "1039" "-4" "1039" "-4" "c.1039-4C>T" "r.spl?" "p.?" "" "0000890784" "00003658" "30" "1039" "-16" "1039" "-16" "c.1039-16G>A" "r.(=)" "p.(=)" "" "0000890785" "00003658" "10" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(=)" "" "0000890786" "00003658" "30" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Gly93Cys)" "" "0000890787" "00003658" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(=)" "" "0000890788" "00003658" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(=)" "" "0000890789" "00003658" "30" "3" "-10" "3" "-10" "c.3-10G>A" "r.(=)" "p.(=)" "" "0000913951" "00003658" "30" "24" "0" "24" "0" "c.24G>T" "r.(?)" "p.(=)" "" "0000925699" "00003658" "30" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Asp416Asn)" "" "0000925700" "00003658" "50" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(=)" "" "0000927462" "00003658" "77" "658" "0" "658" "0" "c.658T>G" "r.(?)" "p.(Cys220Gly)" "" "0000927464" "00003658" "90" "707" "0" "707" "0" "c.707T>C" "r.(?)" "p.(Phe236Ser)" "" "0000927471" "00003658" "90" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Leu230Pro)" "" "0000927475" "00003658" "90" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Cys358Tyr)" "" "0000927476" "00003658" "90" "702" "0" "711" "0" "c.702_711delinsT" "r.(?)" "p.(Lys235_Leu237del)" "" "0000927478" "00003658" "90" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Cys309Tyr)" "" "0000927479" "00003658" "90" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Asp290Gly)" "" "0000927480" "00003658" "90" "1339" "0" "1339" "0" "c.1339T>C" "r.(?)" "p.(Cys447Arg)" "" "0000927481" "00003658" "90" "628" "0" "628" "0" "c.628T>G" "r.(?)" "p.(Tyr210Asp)" "" "0000927482" "00003658" "90" "1113" "0" "1113" "0" "c.1113C>G" "r.(?)" "p.(Cys371Trp)" "" "0000927483" "00003658" "90" "1073" "0" "1073" "0" "c.1073G>T" "r.(?)" "p.(Cys358Phe)" "" "0000927496" "00003658" "90" "149" "0" "150" "0" "c.149_150delinsAT" "r.(?)" "p.(Val50Asp)" "" "0000927498" "00003658" "90" "1274" "-1" "1348" "1" "c.(1273+1_1274-1)_(1348+1_1349-1)del" "r.?" "p.(Gly425_Pro449del)" "" "0000930146" "00003658" "30" "336" "0" "336" "0" "c.336G>C" "r.(?)" "p.(Met112Ile)" "" "0000931478" "00003658" "70" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Gly93Cys)" "" "0000931479" "00003658" "70" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.Asp290Gly" "" "0000931480" "00003658" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Gly297Asp)" "" "0000931527" "00003658" "70" "926" "0" "926" "0" "c.926G>T" "r.(?)" "p.(Cys309Phe)" "" "0000931528" "00003658" "90" "149" "0" "150" "0" "c.149_150delinsAT" "r.(?)" "p.(Val50Asp)" "" "0000950031" "00003658" "10" "231" "6" "231" "6" "c.231+6G>A" "r.(=)" "p.(=)" "" "0000967077" "00003658" "30" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.(=)" "" "0000967080" "00003658" "30" "232" "-98" "232" "-98" "c.232-98G>A" "r.(=)" "p.(=)" "" "0000980456" "00003658" "30" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Val448Ala)" "" "0000980457" "00003658" "10" "1293" "0" "1293" "0" "c.1293C>T" "r.(?)" "p.(=)" "" "0000987718" "00003658" "30" "821" "0" "821" "0" "c.821C>G" "r.(?)" "p.(Pro274Arg)" "" "0001000324" "00003658" "50" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Ile224Ser)" "" "0001000325" "00003658" "30" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219His)" "" "0001000326" "00003658" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(=)" "" "0001026231" "00003658" "30" "3" "-10" "3" "-10" "c.3-10G>A" "r.(=)" "p.(=)" "" "0001039455" "00003658" "30" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Ile)" "" "0001039456" "00003658" "30" "3" "-106" "3" "-106" "c.3-106G>T" "r.(=)" "p.(=)" "" "0001054232" "00003658" "30" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000363228" "0000763719" "0000436474" "0000927462" "0000436476" "0000927464" "0000436479" "0000927471" "0000436487" "0000927475" "0000436489" "0000927476" "0000436492" "0000927478" "0000436493" "0000927479" "0000436495" "0000927480" "0000436496" "0000927481" "0000436497" "0000927482" "0000436498" "0000927483" "0000436510" "0000927496" "0000436511" "0000927498" "0000436812" "0000931478" "0000436813" "0000931479" "0000436814" "0000931480" "0000436855" "0000931527" "0000436856" "0000931528"