### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CFP) # 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}}" "CFP" "complement factor properdin" "X" "p11.4" "unknown" "LRG_129" "UD_132118216931" "" "http://www.LOVD.nl/CFP" "" "1" "8864" "5199" "300383" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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" "http://databases.lovd.nl/shared/refseq/CFP_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2016-10-04 14:57:37" "00000" "2025-07-08 13:22:38" ## 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}}" "00000348" "CFP" "transcript variant 1" "001" "NM_002621.2" "" "NP_002612.1" "" "" "" "-242" "1472" "1410" "47483612" "47489704" "00000" "2012-09-13 12:09:14" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02258" "CFPD" "Properdin deficiency, X-linked" "XLR" "312060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CFP" "02258" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00080690" "" "" "" "1" "" "01749" "" "" "M" "yes" "Turkey" "" "0" "" "" "Anatolian" "" "00104012" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-512A" "00173417" "" "" "" "26" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173523" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173568" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00433081" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat57,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00080690" "00198" "00104012" "03381" "00173417" "00187" "00173523" "00187" "00173568" "00187" "00433081" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02258, 03381, 05292 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060254" "00198" "00080690" "01749" "Familial, autosomal recessive" "" "ataxia, cerebellar and cerebral atrophy, psychomotor retardation and leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "" "0000081946" "03381" "00104012" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000138281" "00187" "00173417" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138387" "00187" "00173523" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138432" "00187" "00173568" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000323607" "05292" "00433081" "00006" "Familial, X-linked" "5y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000080783" "00080690" "1" "01749" "01749" "2016-09-03 19:13:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104483" "00104012" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000174300" "00173417" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174406" "00173523" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000174451" "00173568" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000434512" "00433081" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000174300" "MAMLD1" "0000174406" "KLHL4" "0000174451" "SYTL4" ## 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 = 83 "{{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}}" "0000001898" "0" "50" "X" "47483957" "47483957" "dup" "0" "00037" "CFP_000004" "g.47483957dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47624558dup" "" "VUS" "" "0000001899" "20" "50" "X" "47487913" "47487913" "dup" "0" "00037" "CFP_000006" "g.47487913dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47628514dup" "" "VUS" "" "0000002920" "0" "50" "X" "47483938" "47483938" "del" "0" "00037" "CFP_000015" "g.47483938del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47624539del" "" "VUS" "" "0000002921" "20" "50" "X" "47487913" "47487913" "dup" "0" "00037" "CFP_000017" "g.47487913dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47628514dup" "" "VUS" "" "0000006711" "20" "30" "X" "47483800" "47483800" "subst" "0.224261" "00037" "CFP_000002" "g.47483800G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47624401G>A" "" "likely benign" "" "0000006712" "20" "30" "X" "47483925" "47483925" "subst" "0" "00037" "CFP_000007" "g.47483925A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47624526A>G" "" "likely benign" "" "0000006713" "20" "50" "X" "47486486" "47486486" "subst" "0" "00037" "CFP_000005" "g.47486486C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47627087C>A" "" "VUS" "" "0000008774" "20" "30" "X" "47483800" "47483800" "subst" "0.224261" "00037" "CFP_000002" "g.47483800G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47624401G>A" "" "likely benign" "" "0000008775" "20" "30" "X" "47483925" "47483925" "subst" "0" "00037" "CFP_000007" "g.47483925A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47624526A>G" "" "likely benign" "" "0000008776" "20" "50" "X" "47486486" "47486486" "subst" "0" "00037" "CFP_000005" "g.47486486C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47627087C>A" "" "VUS" "" "0000008777" "20" "50" "X" "47487913" "47487913" "dup" "0" "00037" "CFP_000006" "g.47487913dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47628514dup" "" "VUS" "" "0000010924" "0" "50" "X" "47483938" "47483939" "del" "0" "00037" "CFP_000016" "g.47483938_47483939del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47624539_47624540del" "" "VUS" "" "0000010925" "20" "50" "X" "47487913" "47487913" "dup" "0" "00037" "CFP_000017" "g.47487913dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47628514dup" "" "VUS" "" "0000130562" "20" "30" "X" "47489231" "47489231" "subst" "0" "01749" "CFP_000008" "g.47489231C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.47629832C>T" "" "likely benign" "" "0000169224" "0" "70" "X" "47486641" "47486641" "subst" "6.27865E-5" "00587" "CFP_000018" "g.47486641C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002621.2(CFP):c.665G>A p.(Arg222His)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.47627242C>T" "" "likely pathogenic" "" "0000252359" "0" "30" "X" "47479208" "47479208" "subst" "0" "02326" "SYN1_000046" "g.47479208A>G" "" "" "" "SYN1(NM_006950.3):c.-81T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47619809A>G" "" "likely benign" "" "0000266697" "0" "10" "X" "47483800" "47483800" "subst" "0.224261" "02325" "CFP_000002" "g.47483800G>A" "" "" "" "CFP(NM_002621.2):c.1284C>T (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47624401G>A" "" "benign" "" "0000266698" "0" "10" "X" "47487913" "47487913" "dup" "0" "02325" "CFP_000017" "g.47487913dup" "" "" "" "CFP(NM_002621.2):c.228-237dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47628514dup" "" "benign" "" "0000270071" "0" "30" "X" "47486698" "47486698" "subst" "6.18647E-6" "02326" "CFP_000023" "g.47486698G>C" "" "" "" "CFP(NM_002621.2):c.608C>G (p.T203S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47627299G>C" "" "likely benign" "" "0000270072" "0" "30" "X" "47486217" "47486217" "subst" "0.00144796" "02326" "CFP_000020" "g.47486217C>T" "" "" "" "CFP(NM_002621.2):c.895G>A (p.D299N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47626818C>T" "" "likely benign" "" "0000273306" "0" "30" "X" "47488993" "47488993" "subst" "0.000682576" "01943" "CFP_000027" "g.47488993C>T" "" "" "" "CFP(NM_002621.2):c.157G>A (p.V53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47629594C>T" "" "likely benign" "" "0000273307" "0" "50" "X" "47488941" "47488941" "subst" "2.67177E-5" "01943" "CFP_000026" "g.47488941C>T" "" "" "" "CFP(NM_002621.2):c.209G>A (p.G70E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47629542C>T" "" "VUS" "" "0000273308" "0" "10" "X" "47487513" "47487513" "subst" "0.00172285" "01943" "CFP_000025" "g.47487513G>C" "" "" "" "CFP(NM_001145252.1):c.391C>G (p.(Gln131Glu)), CFP(NM_002621.2):c.391C>G (p.Q131E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47628114G>C" "" "benign" "" "0000273309" "0" "30" "X" "47486968" "47486968" "subst" "0.000141531" "01943" "CFP_000024" "g.47486968C>T" "" "" "" "CFP(NM_002621.2):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47627569C>T" "" "likely benign" "" "0000314232" "0" "30" "X" "47479155" "47479155" "subst" "0" "02326" "SYN1_000045" "g.47479155G>C" "" "" "" "SYN1(NM_006950.3):c.-28C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47619756G>C" "" "likely benign" "" "0000333928" "0" "50" "X" "47485521" "47485521" "subst" "5.56386E-5" "01804" "CFP_000019" "g.47485521G>A" "" "" "" "CFP(NM_001145252.1):c.1180C>T (p.(Pro394Ser)), CFP(NM_002621.2):c.1180C>T (p.P394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47626122G>A" "" "VUS" "" "0000333929" "0" "50" "X" "47486558" "47486558" "subst" "0.00103311" "01804" "CFP_000021" "g.47486558C>T" "" "" "" "CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47627159C>T" "" "VUS" "" "0000333930" "0" "30" "X" "47486695" "47486695" "subst" "0.00209737" "01804" "CFP_000022" "g.47486695G>A" "" "" "" "CFP(NM_001145252.3):c.611C>T (p.(Pro204Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47627296G>A" "" "likely benign" "" "0000333931" "0" "50" "X" "47487513" "47487513" "subst" "0.00172285" "01804" "CFP_000025" "g.47487513G>C" "" "" "" "CFP(NM_001145252.1):c.391C>G (p.(Gln131Glu)), CFP(NM_002621.2):c.391C>G (p.Q131E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47628114G>C" "" "VUS" "" "0000400946" "1" "50" "X" "47483800" "47483800" "subst" "0.224261" "00124" "CFP_000002" "g.47483800G>A" "26/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N428N" "recurrent, found 26 times" "Germline" "" "" "0" "" "" "g.47624401G>A" "" "VUS" "" "0000400993" "1" "50" "X" "47485514" "47485514" "subst" "0" "00124" "CFP_000028" "g.47485514C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G396E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47626115C>T" "" "VUS" "" "0000401013" "1" "50" "X" "47487545" "47487545" "subst" "0" "00124" "CFP_000029" "g.47487545A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L120P" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.47628146A>G" "" "VUS" "" "0000576154" "0" "30" "X" "47478764" "47478764" "subst" "0" "01804" "SYN1_000068" "g.47478764G>A" "" "" "" "SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619365G>A" "" "likely benign" "" "0000576155" "0" "30" "X" "47478939" "47478939" "subst" "9.14091E-5" "01943" "SYN1_000069" "g.47478939C>A" "" "" "" "SYN1(NM_006950.3):c.189G>T (p.P63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619540C>A" "" "likely benign" "" "0000576156" "0" "30" "X" "47486217" "47486217" "subst" "0.00144796" "01943" "CFP_000020" "g.47486217C>T" "" "" "" "CFP(NM_002621.2):c.895G>A (p.D299N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47626818C>T" "" "likely benign" "" "0000576157" "0" "30" "X" "47486558" "47486558" "subst" "0.00103311" "02326" "CFP_000021" "g.47486558C>T" "" "" "" "CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627159C>T" "" "likely benign" "" "0000576158" "0" "30" "X" "47486559" "47486559" "subst" "0" "01943" "CFP_000030" "g.47486559G>A" "" "" "" "CFP(NM_002621.2):c.747C>T (p.T249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627160G>A" "" "likely benign" "" "0000576159" "0" "10" "X" "47486620" "47486620" "subst" "0" "01943" "CFP_000031" "g.47486620G>C" "" "" "" "CFP(NM_002621.2):c.686C>G (p.P229R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627221G>C" "" "benign" "" "0000576160" "0" "30" "X" "47486643" "47486643" "subst" "0.000251367" "01943" "CFP_000032" "g.47486643G>A" "" "" "" "CFP(NM_001145252.3):c.663C>T (p.(Ser221=)), CFP(NM_002621.2):c.663C>T (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627244G>A" "" "likely benign" "" "0000576161" "0" "10" "X" "47487668" "47487668" "subst" "0.00117961" "01943" "CFP_000033" "g.47487668C>T" "" "" "" "CFP(NM_002621.2):c.236G>A (p.R79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47628269C>T" "" "benign" "" "0000619599" "0" "30" "X" "47478989" "47478989" "subst" "0" "01943" "SYN1_000074" "g.47478989C>T" "" "" "" "SYN1(NM_006950.3):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619590C>T" "" "likely benign" "" "0000619600" "0" "10" "X" "47483800" "47483800" "subst" "0.224261" "02327" "CFP_000002" "g.47483800G>A" "" "" "" "CFP(NM_002621.2):c.1284C>T (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47624401G>A" "" "benign" "" "0000619601" "0" "30" "X" "47485574" "47485574" "subst" "0.00019699" "01943" "CFP_000034" "g.47485574A>G" "" "" "" "CFP(NM_002621.2):c.1133-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47626175A>G" "" "likely benign" "" "0000619602" "0" "30" "X" "47486199" "47486199" "subst" "5.72721E-6" "01943" "CFP_000035" "g.47486199T>C" "" "" "" "CFP(NM_002621.2):c.913A>G (p.I305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47626800T>C" "" "likely benign" "" "0000619603" "0" "50" "X" "47486626" "47486626" "subst" "0" "01943" "CFP_000036" "g.47486626G>A" "" "" "" "CFP(NM_002621.2):c.680C>T (p.P227L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627227G>A" "" "VUS" "" "0000619605" "0" "30" "X" "47489029" "47489029" "subst" "0.000201998" "01943" "CFP_000038" "g.47489029C>T" "" "" "" "CFP(NM_002621.2):c.121G>A (p.G41S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47629630C>T" "" "likely benign" "" "0000619606" "0" "30" "X" "47489062" "47489062" "subst" "0.000185831" "01943" "CFP_000039" "g.47489062C>T" "" "" "" "CFP(NM_002621.2):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47629663C>T" "" "likely benign" "" "0000624629" "0" "50" "X" "47483756" "47483756" "subst" "2.23729E-5" "01943" "SYN1_000075" "g.47483756T>C" "" "" "" "CFP(NM_002621.2):c.1328A>G (p.Q443R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47624357T>C" "" "VUS" "" "0000659329" "0" "30" "X" "47478976" "47478976" "subst" "0.00263009" "01804" "SYN1_000079" "g.47478976G>C" "" "" "" "SYN1(NM_006950.3):c.152C>G (p.(Ala51Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47619577G>C" "" "likely benign" "" "0000659330" "0" "70" "X" "47485898" "47485898" "subst" "0" "02327" "CFP_000040" "g.47485898A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47626499A>C" "" "likely pathogenic" "" "0000659331" "0" "50" "X" "47486558" "47486558" "subst" "0.00103311" "02327" "CFP_000021" "g.47486558C>T" "" "" "" "CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627159C>T" "" "VUS" "" "0000659332" "0" "50" "X" "47486641" "47486641" "subst" "6.27865E-5" "01943" "CFP_000018" "g.47486641C>T" "" "" "" "CFP(NM_002621.2):c.665G>A (p.R222H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627242C>T" "" "VUS" "" "0000659333" "0" "30" "X" "47486643" "47486643" "subst" "0.000251367" "02326" "CFP_000032" "g.47486643G>A" "" "" "" "CFP(NM_001145252.3):c.663C>T (p.(Ser221=)), CFP(NM_002621.2):c.663C>T (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47627244G>A" "" "likely benign" "" "0000659334" "0" "30" "X" "47487492" "47487492" "subst" "0.000673193" "01943" "CFP_000041" "g.47487492C>T" "" "" "" "CFP(NM_002621.2):c.403+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47628093C>T" "" "likely benign" "" "0000682463" "0" "30" "X" "47478939" "47478939" "subst" "9.14091E-5" "02326" "SYN1_000069" "g.47478939C>A" "" "" "" "SYN1(NM_006950.3):c.189G>T (p.P63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682464" "0" "50" "X" "47486726" "47486726" "subst" "0" "02327" "CFP_000037" "g.47486726C>T" "" "" "" "CFP(NM_002621.2):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682465" "0" "30" "X" "47488993" "47488993" "subst" "0.000682576" "02327" "CFP_000027" "g.47488993C>T" "" "" "" "CFP(NM_002621.2):c.157G>A (p.V53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693610" "0" "30" "X" "47478764" "47478764" "subst" "0" "01943" "SYN1_000068" "g.47478764G>A" "" "" "" "SYN1(NM_006950.3):c.364C>T (p.P122S, p.(Pro122Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693611" "0" "50" "X" "47486726" "47486726" "subst" "0" "01943" "CFP_000037" "g.47486726C>T" "" "" "" "CFP(NM_002621.2):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728943" "0" "50" "X" "47478776" "47478776" "subst" "0" "01943" "SYN1_000085" "g.47478776C>T" "" "" "" "SYN1(NM_006950.3):c.352G>A (p.V118I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728944" "0" "30" "X" "47485928" "47485928" "subst" "0" "01943" "CFP_000042" "g.47485928C>T" "" "" "" "CFP(NM_002621.2):c.941-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728945" "0" "30" "X" "47486165" "47486165" "subst" "7.8576E-5" "01943" "CFP_000043" "g.47486165T>C" "" "" "" "CFP(NM_002621.2):c.940+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728946" "0" "50" "X" "47486726" "47486726" "subst" "0" "02329" "CFP_000037" "g.47486726C>T" "" "" "" "CFP(NM_002621.2):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728947" "0" "30" "X" "47487000" "47487000" "subst" "4.36965E-5" "01943" "CFP_000044" "g.47487000G>A" "" "" "" "CFP(NM_002621.2):c.444C>T (p.C148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810432" "0" "30" "X" "47485904" "47485904" "subst" "5.61959E-6" "01943" "CFP_000045" "g.47485904C>T" "" "" "" "CFP(NM_002621.2):c.955G>A (p.D319N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810433" "0" "30" "X" "47486218" "47486218" "subst" "0" "02326" "CFP_000046" "g.47486218G>A" "" "" "" "CFP(NM_002621.2):c.894C>T (p.G298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810434" "0" "50" "X" "47486675" "47486675" "subst" "0" "01943" "CFP_000047" "g.47486675C>T" "" "" "" "CFP(NM_002621.2):c.631G>A (p.G211S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810435" "0" "30" "X" "47488993" "47488993" "subst" "0.000682576" "02326" "CFP_000027" "g.47488993C>T" "" "" "" "CFP(NM_002621.2):c.157G>A (p.V53M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856639" "0" "50" "X" "47485521" "47485521" "subst" "5.56386E-5" "02325" "CFP_000019" "g.47485521G>A" "" "" "" "CFP(NM_001145252.1):c.1180C>T (p.(Pro394Ser)), CFP(NM_002621.2):c.1180C>T (p.P394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867395" "0" "30" "X" "47485477" "47485477" "subst" "0" "01943" "CFP_000048" "g.47485477T>A" "" "" "" "CFP(NM_002621.2):c.1224A>T (p.T408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867396" "0" "50" "X" "47486247" "47486247" "subst" "8.74671E-5" "01943" "CFP_000049" "g.47486247G>A" "" "" "" "CFP(NM_002621.2):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867397" "0" "30" "X" "47486577" "47486577" "subst" "2.83836E-5" "01943" "CFP_000050" "g.47486577G>A" "" "" "" "CFP(NM_002621.2):c.729C>T (p.Y243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896253" "0" "50" "X" "47485462" "47485462" "subst" "0" "02327" "CFP_000051" "g.47485462C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896254" "0" "50" "X" "47486739" "47486739" "subst" "0" "02327" "CFP_000052" "g.47486739G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915724" "0" "50" "X" "47479039" "47479039" "subst" "0" "02325" "SYN1_000096" "g.47479039G>C" "" "" "" "SYN1(NM_133499.2):c.89C>G (p.P30R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920267" "21" "90" "X" "47485897" "47485897" "subst" "0" "00006" "CFP_000053" "g.47485897C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "De novo" "" "" "0" "" "" "g.47626498C>T" "" "pathogenic" "ACMG" "0000927379" "0" "30" "X" "47486695" "47486695" "subst" "0.00209737" "02327" "CFP_000022" "g.47486695G>A" "" "" "" "CFP(NM_001145252.3):c.611C>T (p.(Pro204Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927380" "0" "30" "X" "47488905" "47488905" "subst" "0" "02327" "CFP_000054" "g.47488905C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927381" "0" "30" "X" "47489156" "47489156" "dup" "0" "02326" "CFP_000055" "g.47489156dup" "" "" "" "CFP(NM_002621.2):c.76+12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951764" "0" "90" "X" "47486325" "47486332" "del" "0" "02329" "CFP_000056" "g.47486325_47486332del" "" "" "" "CFP(NM_001145252.3):c.786_793delTTGGGGCC (p.W263Cfs*91)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971111" "0" "50" "X" "47487009" "47487009" "subst" "0" "02329" "CFP_000057" "g.47487009C>A" "" "" "" "CFP(NM_001145252.3):c.435G>T (p.W145C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984704" "0" "30" "X" "47486643" "47486643" "subst" "0.000251367" "01804" "CFP_000032" "g.47486643G>A" "" "" "" "CFP(NM_001145252.3):c.663C>T (p.(Ser221=)), CFP(NM_002621.2):c.663C>T (p.S221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046865" "0" "30" "X" "47486217" "47486217" "subst" "0.00144796" "02327" "CFP_000020" "g.47486217C>T" "" "" "" "CFP(NM_002621.2):c.895G>A (p.D299N)" "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 CFP ## Count = 83 "{{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}}" "0000001898" "00000348" "50" "1245" "-100" "1245" "-100" "c.1245-100dup" "r.(=)" "p.(=)" "" "0000001899" "00000348" "50" "228" "-237" "228" "-237" "c.228-237dup" "r.(=)" "p.(=)" "" "0000002920" "00000348" "50" "1245" "-99" "1245" "-99" "c.1245-99del" "r.(=)" "p.(=)" "" "0000002921" "00000348" "50" "228" "-237" "228" "-237" "c.228-237dup" "r.(=)" "p.(=)" "" "0000006711" "00000348" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "10" "0000006712" "00000348" "30" "1245" "-86" "1245" "-86" "c.1245-86T>C" "r.(?)" "p.(=)" "9i" "0000006713" "00000348" "50" "766" "54" "766" "54" "c.766+54G>T" "r.(=)" "p.(=)" "" "0000008774" "00000348" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "10" "0000008775" "00000348" "30" "1245" "-86" "1245" "-86" "c.1245-86T>C" "r.(?)" "p.(=)" "9i" "0000008776" "00000348" "50" "766" "54" "766" "54" "c.766+54G>T" "r.(=)" "p.(=)" "" "0000008777" "00000348" "50" "228" "-237" "228" "-237" "c.228-237dup" "r.(=)" "p.(=)" "" "0000010924" "00000348" "50" "1245" "-100" "1245" "-99" "c.1245-100_1245-99del" "r.(=)" "p.(=)" "" "0000010925" "00000348" "50" "228" "-237" "228" "-237" "c.228-237dup" "r.(=)" "p.(=)" "" "0000130562" "00000348" "30" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Gly5Arg)" "2" "0000169224" "00000348" "00" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000252359" "00000348" "30" "5876" "0" "5876" "0" "c.*4466T>C" "r.(=)" "p.(=)" "" "0000266697" "00000348" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0000266698" "00000348" "10" "228" "-237" "228" "-237" "c.228-237dup" "r.(=)" "p.(=)" "" "0000270071" "00000348" "30" "608" "0" "608" "0" "c.608C>G" "r.(?)" "p.(Thr203Ser)" "" "0000270072" "00000348" "30" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Asp299Asn)" "" "0000273306" "00000348" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Met)" "" "0000273307" "00000348" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Gly70Glu)" "" "0000273308" "00000348" "10" "391" "0" "391" "0" "c.391C>G" "r.(?)" "p.(Gln131Glu)" "" "0000273309" "00000348" "30" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000314232" "00000348" "30" "5929" "0" "5929" "0" "c.*4519C>G" "r.(=)" "p.(=)" "" "0000333928" "00000348" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Pro394Ser)" "" "0000333929" "00000348" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "0000333930" "00000348" "30" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Pro204Leu)" "" "0000333931" "00000348" "50" "391" "0" "391" "0" "c.391C>G" "r.(?)" "p.(Gln131Glu)" "" "0000400946" "00000348" "50" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(=)" "10" "0000400993" "00000348" "50" "1187" "0" "1187" "0" "c.1187G>A" "r.(?)" "p.(Gly396Glu)" "9" "0000401013" "00000348" "50" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Leu120Pro)" "4" "0000576154" "00000348" "30" "6320" "0" "6320" "0" "c.*4910C>T" "r.(=)" "p.(=)" "" "0000576155" "00000348" "30" "6145" "0" "6145" "0" "c.*4735G>T" "r.(=)" "p.(=)" "" "0000576156" "00000348" "30" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Asp299Asn)" "" "0000576157" "00000348" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "0000576158" "00000348" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Thr249=)" "" "0000576159" "00000348" "10" "686" "0" "686" "0" "c.686C>G" "r.(?)" "p.(Pro229Arg)" "" "0000576160" "00000348" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Ser221=)" "" "0000576161" "00000348" "10" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Gln)" "" "0000619599" "00000348" "30" "6095" "0" "6095" "0" "c.*4685G>A" "r.(=)" "p.(=)" "" "0000619600" "00000348" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Asn428=)" "" "0000619601" "00000348" "30" "1133" "-6" "1133" "-6" "c.1133-6T>C" "r.(=)" "p.(=)" "" "0000619602" "00000348" "30" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000619603" "00000348" "50" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Pro227Leu)" "" "0000619605" "00000348" "30" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Gly41Ser)" "" "0000619606" "00000348" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000624629" "00000348" "50" "1328" "0" "1328" "0" "c.1328A>G" "r.(?)" "p.(Gln443Arg)" "" "0000659329" "00000348" "30" "6108" "0" "6108" "0" "c.*4698C>G" "r.(=)" "p.(=)" "" "0000659330" "00000348" "70" "961" "0" "961" "0" "c.961T>G" "r.(?)" "p.(Trp321Gly)" "" "0000659331" "00000348" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "0000659332" "00000348" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000659333" "00000348" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Ser221=)" "" "0000659334" "00000348" "30" "403" "9" "403" "9" "c.403+9G>A" "r.(=)" "p.(=)" "" "0000682463" "00000348" "30" "6145" "0" "6145" "0" "c.*4735G>T" "r.(=)" "p.(=)" "" "0000682464" "00000348" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000682465" "00000348" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Met)" "" "0000693610" "00000348" "30" "6320" "0" "6320" "0" "c.*4910C>T" "r.(=)" "p.(=)" "" "0000693611" "00000348" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000728943" "00000348" "50" "6308" "0" "6308" "0" "c.*4898G>A" "r.(=)" "p.(=)" "" "0000728944" "00000348" "30" "941" "-10" "941" "-10" "c.941-10G>A" "r.(=)" "p.(=)" "" "0000728945" "00000348" "30" "940" "7" "940" "7" "c.940+7A>G" "r.(=)" "p.(=)" "" "0000728946" "00000348" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" "" "0000728947" "00000348" "30" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Cys148=)" "" "0000810432" "00000348" "30" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Asp319Asn)" "" "0000810433" "00000348" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Gly298=)" "" "0000810434" "00000348" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Gly211Ser)" "" "0000810435" "00000348" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Val53Met)" "" "0000856639" "00000348" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Pro394Ser)" "" "0000867395" "00000348" "30" "1224" "0" "1224" "0" "c.1224A>T" "r.(?)" "p.(Thr408=)" "" "0000867396" "00000348" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" "0000867397" "00000348" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Tyr243=)" "" "0000896253" "00000348" "50" "1239" "0" "1239" "0" "c.1239G>C" "r.(?)" "p.(Lys413Asn)" "" "0000896254" "00000348" "50" "575" "-8" "575" "-8" "c.575-8C>G" "r.(=)" "p.(=)" "" "0000915724" "00000348" "50" "6045" "0" "6045" "0" "c.*4635C>G" "r.(=)" "p.(=)" "" "0000920267" "00000348" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Trp321Ter)" "8" "0000927379" "00000348" "30" "611" "0" "611" "0" "c.611C>T" "r.(?)" "p.(Pro204Leu)" "" "0000927380" "00000348" "30" "227" "18" "227" "18" "c.227+18G>C" "r.(=)" "p.(=)" "" "0000927381" "00000348" "30" "76" "12" "76" "12" "c.76+12dup" "r.(=)" "p.(=)" "" "0000951764" "00000348" "90" "786" "0" "793" "0" "c.786_793del" "r.(?)" "p.(Trp263Cysfs*91)" "" "0000971111" "00000348" "50" "435" "0" "435" "0" "c.435G>T" "r.(?)" "p.(Trp145Cys)" "" "0000984704" "00000348" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Ser221=)" "" "0001046865" "00000348" "30" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Asp299Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001898" "0000000209" "0000001899" "0000000209" "0000002920" "0000000209" "0000002921" "0000000209" "0000006711" "0000000209" "0000006712" "0000000209" "0000006713" "0000000210" "0000008774" "0000000210" "0000008775" "0000000210" "0000008776" "0000000210" "0000008777" "0000000210" "0000010924" "0000000210" "0000010925" "0000080783" "0000130562" "0000104483" "0000169224" "0000174300" "0000400946" "0000174406" "0000400993" "0000174451" "0000401013" "0000434512" "0000920267"