### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC22) # 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}}" "CCDC22" "coiled-coil domain containing 22" "X" "p11.23" "unknown" "NG_021311.2" "UD_132118576094" "" "https://www.LOVD.nl/CCDC22" "" "1" "28909" "28952" "300859" "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" "https://databases.lovd.nl/shared/refseq/CCDC22_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-09-04 16:25:44" "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}}" "00000428" "CCDC22" "coiled-coil domain containing 22" "001" "NM_014008.3" "" "NP_054727.1" "" "" "" "-170" "2149" "1884" "49091927" "49106987" "00000" "2012-09-13 12:14:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "06847" "RTSC2" "Ritscher-Schinzel syndrome 2" "XLR" "300963" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC22" "06847" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "" "" "00117946" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377463-Pat?" "00117947" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377464-Pat?" "00117948" "" "" "" "179" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377465-Pat?" "00117949" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377466-Pat?" "00117950" "" "" "" "1" "" "01995" "" "" "M" "no" "Austria" "" "0" "" "" "white" "" "00295073" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305310" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305311" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00415166" "" "" "" "1" "cc_by-nc-sa_4.0;1" "04366" "" "" "M" "" "Portugal" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00117946" "00187" "00117947" "00187" "00117948" "00187" "00117949" "00187" "00117950" "00187" "00295073" "00198" "00305310" "00198" "00305311" "00198" "00415166" "06847" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 06847 ## Count = 7 "{{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" "" "" "" "" "" "" "" "" "" "0000093324" "00187" "00117946" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093325" "00187" "00117947" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093326" "00187" "00117948" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093327" "00187" "00117949" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000093328" "00187" "00117950" "01995" "Familial, X-linked recessive" "" "features of Ritscher-Schinzel / 3C syndrome; the affected 8y/15ybrothers are offspring of non-consanguineous healthy parents of Austrian origin. They were born with normal measurements but they developed postnatal growth delay (-3.7 SD in patient 1 and -2.1 SD in patient 2), and a relative large head circumference (occipitofrontal head circumference of +1.3 SD and +0.8 SD, see Table 1). After birth, large anterior fontanelles were documented in both and cryptorchidism was noted in the older one. In addition, both had Dandy-Walker-malformations and ventricular septal defects (VSD) for which corrective surgery was performed. Muscular hypotonia and psychomotor delay were noted in both from early infancy. At current age they are able to communicate in simple, dysgrammatic phrases with poor articulation, while receptive speech is well preserved. Their common facial signs included a broad forehead, upslanting palpebral fissures, wide-set eyes, a short philtrum, and a broad neck with a low posterior hair line; large, protruding tongue; fingers show camptodactyly, reduced distal creases of the second to fifth fingers, clinodactyly of the fifth fingers, fetal finger pads as well as hypoplastic finger nails of the second to fifth fingers; halluces broad, toes long with overriding fifth toe" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "0000118409" "00117946" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2014-03-28 16:52:02" "SEQ" "DNA" "" "" "0000118410" "00117947" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2014-03-28 16:46:11" "SEQ" "DNA" "" "" "0000118411" "00117948" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2014-03-28 16:48:47" "SEQ" "DNA" "" "" "0000118412" "00117949" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2014-03-28 16:45:26" "SEQ" "DNA" "" "" "0000118413" "00117950" "1" "01995" "01995" "2014-03-27 09:49:40" "00006" "2014-03-28 16:39:11" "SEQ" "DNA" "" "" "0000296241" "00295073" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306439" "00305310" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306440" "00305311" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000416447" "00415166" "1" "04366" "04366" "2022-08-08 23:35:46" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000118409" "CCDC22" "0000118410" "CCDC22" "0000118411" "CCDC22" "0000118412" "CCDC22" "0000118413" "CCDC22" ## 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 = 155 "{{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}}" "0000006862" "20" "50" "X" "49093528" "49093528" "subst" "0.528921" "00037" "CCDC22_000006" "g.49093528T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49237061=" "" "VUS" "" "0000006863" "20" "50" "X" "49098631" "49098631" "subst" "0.396104" "00037" "CCDC22_000010" "g.49098631A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49242165=" "" "VUS" "" "0000006864" "20" "50" "X" "49103097" "49103097" "subst" "0" "00037" "CCDC22_000007" "g.49103097T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49246636=" "" "VUS" "" "0000006865" "20" "50" "X" "49103224" "49103224" "subst" "0.389365" "00037" "CCDC22_000009" "g.49103224G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49246763=" "" "VUS" "" "0000008932" "20" "50" "X" "49093528" "49093528" "subst" "0.528921" "00037" "CCDC22_000006" "g.49093528T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49237061=" "" "VUS" "" "0000008933" "20" "50" "X" "49098631" "49098631" "subst" "0.396104" "00037" "CCDC22_000010" "g.49098631A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49242165=" "" "VUS" "" "0000008934" "20" "50" "X" "49103097" "49103097" "subst" "0" "00037" "CCDC22_000007" "g.49103097T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49246636=" "" "VUS" "" "0000008935" "20" "50" "X" "49103224" "49103224" "subst" "0.389365" "00037" "CCDC22_000009" "g.49103224G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49246763=" "" "VUS" "" "0000014830" "0" "50" "X" "49106535" "49106535" "subst" "0" "00037" "CCDC22_000008" "g.49106535T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.49250074T>G" "" "VUS" "" "0000194514" "1" "50" "X" "49092145" "49092145" "subst" "0" "00124" "CCDC22_000002" "g.49092145A>G" "1/208" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "yes" "" "0" "" "" "g.49235685A>G" "" "VUS" "" "0000194515" "1" "50" "X" "49103192" "49103192" "subst" "0.00124048" "00124" "CCDC22_000003" "g.49103192G>A" "1/208" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "yes" "" "0" "" "" "g.49246731G>A" "" "VUS" "" "0000194516" "1" "30" "X" "49103224" "49103224" "subst" "0" "00124" "CCDC22_000004" "g.49103224A>G" "179/208" "{PMID:Tarpey 2009:19377476}" "" "747G>A (Q249Q)" "recurrent, found 179 times\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000194517" "1" "50" "X" "49104943" "49104943" "subst" "0.00759913" "00124" "CCDC22_000001" "g.49104943G>A" "1/208" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "yes" "" "0" "" "" "g.49248482G>A" "" "VUS" "" "0000194518" "21" "70" "X" "49106004" "49106004" "subst" "0" "01995" "CCDC22_000005" "g.49106004A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.49249543A>G" "" "likely pathogenic" "" "0000256237" "0" "50" "X" "49111963" "49111963" "subst" "0" "01943" "FOXP3_000007" "g.49111963A>G" "" "" "" "FOXP3(NM_014009.3):c.743T>C (p.L248P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49255502A>G" "" "VUS" "" "0000272488" "0" "30" "X" "49088292" "49088292" "subst" "0.0020144" "01943" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231830C>T" "" "likely benign" "" "0000272490" "0" "30" "X" "49088273" "49088273" "subst" "9.62354E-5" "01943" "CACNA1F_000082" "g.49088273G>T" "" "" "" "CACNA1F(NM_005183.3):c.142C>A (p.P48T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231811G>T" "" "likely benign" "" "0000272495" "0" "50" "X" "49088206" "49088206" "subst" "2.81177E-5" "01943" "CACNA1F_000080" "g.49088206C>T" "" "" "" "CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231744C>T" "" "VUS" "" "0000272753" "0" "10" "X" "49104709" "49104709" "subst" "0.00295386" "01943" "CCDC22_000019" "g.49104709C>T" "" "" "" "CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248248C>T" "" "benign" "" "0000272754" "0" "10" "X" "49104722" "49104722" "subst" "0.00133168" "01943" "CCDC22_000021" "g.49104722G>A" "" "" "" "CCDC22(NM_014008.3):c.1163G>A (p.(Arg388His)), CCDC22(NM_014008.4):c.1163G>A (p.R388H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248261G>A" "" "benign" "" "0000272755" "0" "10" "X" "49105970" "49105970" "subst" "0.00346205" "01943" "CCDC22_000023" "g.49105970G>A" "" "" "" "CCDC22(NM_014008.3):c.1636G>A (p.(Asp546Asn)), CCDC22(NM_014008.4):c.1636G>A (p.D546N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49249509G>A" "" "benign" "" "0000272756" "0" "30" "X" "49099850" "49099850" "subst" "0" "01943" "CCDC22_000013" "g.49099850G>T" "" "" "" "CCDC22(NM_014008.4):c.636G>T (p.L212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49243384G>T" "" "likely benign" "" "0000272757" "0" "30" "X" "49103192" "49103192" "subst" "0.00124048" "01943" "CCDC22_000003" "g.49103192G>A" "" "" "" "CCDC22(NM_014008.4):c.715G>A (p.E239K), CCDC22(NM_014008.5):c.715G>A (p.E239K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49246731G>A" "" "likely benign" "" "0000284093" "0" "30" "X" "49113312" "49113312" "subst" "0.0315965" "02326" "FOXP3_000008" "g.49113312G>A" "" "" "" "FOXP3(NM_014009.3):c.543C>T (p.S181=), FOXP3(NM_014009.4):c.543C>T (p.(Ser181=), p.S181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49256855G>A" "" "likely benign" "" "0000287868" "0" "50" "X" "49114183" "49114183" "subst" "0" "01943" "FOXP3_000009" "g.49114183G>A" "" "" "" "FOXP3(NM_014009.3):c.253C>T (p.R85W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49257726G>A" "" "VUS" "" "0000306241" "0" "30" "X" "49127175" "49127175" "subst" "0.000209778" "01943" "PPP1R3F_000002" "g.49127175C>T" "" "" "" "PPP1R3F(NM_033215.4):c.843C>T (p.Y281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49270712C>T" "" "likely benign" "" "0000334095" "0" "50" "X" "49088142" "49088142" "subst" "0.000191037" "01804" "CACNA1F_000079" "g.49088142C>G" "" "" "" "CACNA1F(NM_001256789.1):c.273G>C (p.(Trp91Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231680C>G" "" "VUS" "" "0000334098" "0" "50" "X" "49099379" "49099379" "subst" "0.0029516" "01804" "CCDC22_000012" "g.49099379T>C" "" "" "" "CCDC22(NM_014008.3):c.389T>C (p.(Ile130Thr)), CCDC22(NM_014008.4):c.389T>C (p.I130T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49242913T>C" "" "VUS" "" "0000334099" "0" "30" "X" "49099873" "49099873" "subst" "0.000311973" "01804" "CCDC22_000014" "g.49099873G>A" "" "" "" "CCDC22(NM_014008.3):c.659G>A (p.(Arg220Gln)), CCDC22(NM_014008.4):c.659G>A (p.R220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49243407G>A" "" "likely benign" "" "0000334103" "0" "50" "X" "49104695" "49104695" "subst" "1.76132E-5" "01804" "CCDC22_000018" "g.49104695G>A" "" "" "" "CCDC22(NM_014008.3):c.1136G>A (p.(Arg379His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248234G>A" "" "VUS" "" "0000334104" "0" "50" "X" "49104709" "49104709" "subst" "0.00295386" "01804" "CCDC22_000019" "g.49104709C>T" "" "" "" "CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248248C>T" "" "VUS" "" "0000334107" "0" "30" "X" "49104722" "49104722" "subst" "0.00133168" "01804" "CCDC22_000021" "g.49104722G>A" "" "" "" "CCDC22(NM_014008.3):c.1163G>A (p.(Arg388His)), CCDC22(NM_014008.4):c.1163G>A (p.R388H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248261G>A" "" "likely benign" "" "0000334109" "0" "50" "X" "49105970" "49105970" "subst" "0.00346205" "01804" "CCDC22_000023" "g.49105970G>A" "" "" "" "CCDC22(NM_014008.3):c.1636G>A (p.(Asp546Asn)), CCDC22(NM_014008.4):c.1636G>A (p.D546N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49249509G>A" "" "VUS" "" "0000334112" "0" "30" "X" "49114808" "49114808" "subst" "0.00187434" "01804" "FOXP3_000011" "g.49114808C>A" "" "" "" "FOXP3(NM_001114377.1):c.155G>T (p.(Gly52Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49258351C>A" "" "likely benign" "" "0000334113" "0" "50" "X" "49126954" "49126954" "subst" "6.82293E-5" "01804" "PPP1R3F_000001" "g.49126954G>A" "" "" "" "PPP1R3F(NM_001184745.1):c.-32+558G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49270491G>A" "" "VUS" "" "0000341469" "0" "50" "X" "49105321" "49105321" "subst" "0" "02327" "CCDC22_000025" "g.49105321C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49248860C>G" "" "VUS" "" "0000348206" "0" "10" "X" "49088374" "49088374" "subst" "0.0145515" "02327" "CACNA1F_000091" "g.49088374G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49231912G>A" "" "benign" "" "0000351248" "0" "50" "X" "49099351" "49099351" "subst" "0" "02327" "CCDC22_000024" "g.49099351G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49242885G>C" "" "VUS" "" "0000576384" "0" "10" "X" "49087011" "49087011" "subst" "0.000102391" "02330" "CACNA1F_000133" "g.49087011C>T" "" "" "" "CACNA1F(NM_005183.4):c.582G>A (p.G194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230549C>T" "" "benign" "" "0000576385" "0" "90" "X" "49087015" "49087015" "del" "0" "02330" "CACNA1F_000134" "g.49087015del" "" "" "" "CACNA1F(NM_001256789.1):c.579delC (p.(Gly195fs)), CACNA1F(NM_005183.4):c.579delC (p.G195Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230553del" "" "pathogenic" "" "0000576386" "0" "10" "X" "49087335" "49087335" "subst" "0" "02330" "CACNA1F_000135" "g.49087335G>C" "" "" "" "CACNA1F(NM_005183.4):c.498C>G (p.L166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230873G>C" "" "benign" "" "0000576387" "0" "10" "X" "49087440" "49087440" "subst" "5.52415E-5" "02330" "CACNA1F_000136" "g.49087440C>T" "" "" "" "CACNA1F(NM_005183.3):c.393G>A (p.E131=), CACNA1F(NM_005183.4):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230978C>T" "" "benign" "" "0000576388" "0" "10" "X" "49088292" "49088292" "subst" "0.0020144" "02330" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231830C>T" "" "benign" "" "0000576389" "0" "50" "X" "49088375" "49088375" "subst" "0.000174882" "02330" "CACNA1F_000137" "g.49088375G>T" "" "" "" "CACNA1F(NM_005183.4):c.40C>A (p.P14T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231913G>T" "" "VUS" "" "0000576390" "0" "30" "X" "49093663" "49093663" "subst" "0.000129451" "01943" "CCDC22_000011" "g.49093663G>C" "" "" "" "CCDC22(NM_014008.4):c.161G>C (p.S54T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237196G>C" "" "likely benign" "" "0000576391" "0" "10" "X" "49099379" "49099379" "subst" "0.0029516" "01943" "CCDC22_000012" "g.49099379T>C" "" "" "" "CCDC22(NM_014008.3):c.389T>C (p.(Ile130Thr)), CCDC22(NM_014008.4):c.389T>C (p.I130T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49242913T>C" "" "benign" "" "0000576392" "0" "50" "X" "49099411" "49099411" "subst" "0" "01943" "CCDC22_000026" "g.49099411C>A" "" "" "" "CCDC22(NM_014008.4):c.421C>A (p.P141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49242945C>A" "" "VUS" "" "0000576393" "0" "30" "X" "49099743" "49099743" "subst" "0.003626" "01804" "CCDC22_000027" "g.49099743C>T" "" "" "" "CCDC22(NM_014008.3):c.536-7C>T (p.(=)), CCDC22(NM_014008.4):c.536-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49243277C>T" "" "likely benign" "" "0000576394" "0" "30" "X" "49099873" "49099873" "subst" "0.000311973" "01943" "CCDC22_000014" "g.49099873G>A" "" "" "" "CCDC22(NM_014008.3):c.659G>A (p.(Arg220Gln)), CCDC22(NM_014008.4):c.659G>A (p.R220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49243407G>A" "" "likely benign" "" "0000576397" "0" "30" "X" "49103192" "49103192" "subst" "0.00124048" "02325" "CCDC22_000003" "g.49103192G>A" "" "" "" "CCDC22(NM_014008.4):c.715G>A (p.E239K), CCDC22(NM_014008.5):c.715G>A (p.E239K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49246731G>A" "" "likely benign" "" "0000576398" "0" "50" "X" "49103285" "49103285" "subst" "4.59384E-5" "01943" "CCDC22_000029" "g.49103285C>T" "" "" "" "CCDC22(NM_014008.4):c.808C>T (p.R270W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49246824C>T" "" "VUS" "" "0000576399" "0" "30" "X" "49104009" "49104009" "subst" "0.000778555" "01943" "CCDC22_000030" "g.49104009G>A" "" "" "" "CCDC22(NM_014008.4):c.962G>A (p.R321Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49247548G>A" "" "likely benign" "" "0000576400" "0" "30" "X" "49104693" "49104693" "subst" "0.000123512" "02327" "CCDC22_000031" "g.49104693G>C" "" "" "" "CCDC22(NM_014008.4):c.1134G>C (p.E378D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248232G>C" "" "likely benign" "" "0000576401" "0" "30" "X" "49104709" "49104709" "subst" "0.00295386" "02326" "CCDC22_000019" "g.49104709C>T" "" "" "" "CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248248C>T" "" "likely benign" "" "0000576402" "0" "50" "X" "49104721" "49104721" "subst" "6.46131E-5" "01943" "CCDC22_000020" "g.49104721C>T" "" "" "" "CCDC22(NM_014008.4):c.1162C>T (p.R388C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248260C>T" "" "VUS" "" "0000576404" "0" "30" "X" "49104943" "49104943" "subst" "0.00759913" "01804" "CCDC22_000001" "g.49104943G>A" "" "" "" "CCDC22(NM_014008.3):c.1288G>A (p.(Ala430Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248482G>A" "" "likely benign" "" "0000576405" "0" "50" "X" "49105097" "49105097" "subst" "0" "02329" "CCDC22_000033" "g.49105097G>A" "" "" "" "CCDC22(NM_014008.5):c.1333G>A (p.E445K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248636G>A" "" "VUS" "" "0000576406" "0" "50" "X" "49105107" "49105107" "subst" "0" "01943" "CCDC22_000034" "g.49105107G>A" "" "" "" "CCDC22(NM_014008.4):c.1343G>A (p.R448Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248646G>A" "" "VUS" "" "0000576407" "0" "30" "X" "49105278" "49105278" "subst" "5.82866E-6" "01943" "CCDC22_000035" "g.49105278A>C" "" "" "" "CCDC22(NM_014008.4):c.1432A>C (p.M478L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248817A>C" "" "likely benign" "" "0000576408" "0" "30" "X" "49105644" "49105644" "subst" "0" "01943" "CCDC22_000036" "g.49105644A>G" "" "" "" "CCDC22(NM_014008.4):c.1556A>G (p.K519R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49249183A>G" "" "likely benign" "" "0000576410" "0" "50" "X" "49108210" "49108210" "subst" "0" "01943" "CCDC22_000038" "g.49108210G>A" "" "" "" "FOXP3(NM_014009.3):c.1061C>T (p.P354L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49251749G>A" "" "VUS" "" "0000576411" "0" "30" "X" "49108220" "49108220" "subst" "2.37106E-5" "02326" "CCDC22_000039" "g.49108220G>A" "" "" "" "FOXP3(NM_014009.3):c.1051C>T (p.L351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49251759G>A" "" "likely benign" "" "0000576412" "0" "50" "X" "49111894" "49111894" "subst" "0" "02325" "CCDC22_000040" "g.49111894G>A" "" "" "" "FOXP3(NM_014009.4):c.812C>T (p.S271F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49255433G>A" "" "VUS" "" "0000576413" "0" "70" "X" "49111958" "49111960" "del" "0" "01943" "CCDC22_000041" "g.49111958_49111960del" "" "" "" "FOXP3(NM_014009.3):c.748_750delAAG (p.K250del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49255497_49255499del" "" "likely pathogenic" "" "0000576414" "0" "30" "X" "49114007" "49114007" "subst" "0" "01804" "CCDC22_000042" "g.49114007C>T" "" "" "" "FOXP3(NM_001114377.1):c.226G>A (p.(Ala76Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49257550C>T" "" "likely benign" "" "0000576415" "0" "50" "X" "49114015" "49114015" "subst" "0" "01804" "CCDC22_000043" "g.49114015G>A" "" "" "" "FOXP3(NM_001114377.1):c.218C>T (p.(Thr73Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49257558G>A" "" "VUS" "" "0000576416" "0" "30" "X" "49114794" "49114796" "del" "0" "01943" "CCDC22_000044" "g.49114794_49114796del" "" "" "" "FOXP3(NM_014009.3):c.171_173delCTC (p.S60del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49258337_49258339del" "" "likely benign" "" "0000576417" "0" "30" "X" "49114895" "49114895" "subst" "0" "01943" "CCDC22_000045" "g.49114895G>A" "" "" "" "FOXP3(NM_014009.3):c.68C>T (p.S23L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49258438G>A" "" "likely benign" "" "0000576418" "0" "30" "X" "49126796" "49126796" "subst" "1.45195E-5" "01943" "CCDC22_000046" "g.49126796G>T" "" "" "" "PPP1R3F(NM_033215.4):c.464G>T (p.W155L, p.(Trp155Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270333G>T" "" "likely benign" "" "0000576419" "0" "30" "X" "49126801" "49126801" "subst" "2.79642E-5" "01943" "CCDC22_000047" "g.49126801C>T" "" "" "" "PPP1R3F(NM_033215.4):c.469C>T (p.P157S, p.(Pro157Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270338C>T" "" "likely benign" "" "0000576420" "0" "50" "X" "49126948" "49126948" "subst" "1.86915E-5" "01943" "CCDC22_000048" "g.49126948G>T" "" "" "" "PPP1R3F(NM_033215.4):c.616G>T (p.A206S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270485G>T" "" "VUS" "" "0000576421" "0" "50" "X" "49126952" "49126952" "subst" "0" "01943" "CCDC22_000049" "g.49126952G>T" "" "" "" "PPP1R3F(NM_033215.4):c.620G>T (p.G207V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270489G>T" "" "VUS" "" "0000619659" "0" "70" "X" "49087087" "49087087" "subst" "0" "02327" "CACNA1F_000097" "g.49087087C>T" "" "" "" "CACNA1F(NM_005183.4):c.522-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230625C>T" "" "likely pathogenic" "" "0000619660" "0" "30" "X" "49087440" "49087440" "subst" "5.52415E-5" "01943" "CACNA1F_000136" "g.49087440C>T" "" "" "" "CACNA1F(NM_005183.3):c.393G>A (p.E131=), CACNA1F(NM_005183.4):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230978C>T" "" "likely benign" "" "0000619661" "0" "30" "X" "49093586" "49093586" "subst" "8.43896E-5" "01943" "CACNA1F_000151" "g.49093586C>T" "" "" "" "CCDC22(NM_014008.4):c.84C>T (p.A28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237119C>T" "" "likely benign" "" "0000619662" "0" "30" "X" "49099767" "49099767" "subst" "1.92813E-5" "01943" "CCDC22_000050" "g.49099767G>A" "" "" "" "CCDC22(NM_014008.3):c.553G>A (p.(Ala185Thr)), CCDC22(NM_014008.4):c.553G>A (p.A185T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49243301G>A" "" "likely benign" "" "0000619663" "0" "30" "X" "49105176" "49105176" "subst" "6.31639E-5" "02325" "CCDC22_000052" "g.49105176A>G" "" "" "" "CCDC22(NM_014008.5):c.1412A>G (p.E471G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248715A>G" "" "likely benign" "" "0000619664" "0" "50" "X" "49114015" "49114015" "subst" "0" "02327" "CCDC22_000043" "g.49114015G>A" "" "" "" "FOXP3(NM_001114377.1):c.218C>T (p.(Thr73Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49257558G>A" "" "VUS" "" "0000619665" "0" "30" "X" "49114893" "49114893" "subst" "2.28845E-5" "01943" "CCDC22_000053" "g.49114893G>A" "" "" "" "FOXP3(NM_014009.3):c.70C>T (p.P24S), FOXP3(NM_014009.4):c.70C>T (p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49258436G>A" "" "likely benign" "" "0000624647" "0" "30" "X" "49105152" "49105152" "subst" "4.54959E-5" "01943" "CCDC22_000051" "g.49105152C>G" "" "" "" "CCDC22(NM_014008.4):c.1388C>G (p.A463G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248691C>G" "" "likely benign" "" "0000624648" "0" "50" "X" "49126576" "49126576" "subst" "5.16929E-5" "01943" "CCDC22_000054" "g.49126576G>T" "" "" "" "PPP1R3F(NM_033215.4):c.244G>T (p.D82Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270113G>T" "" "VUS" "" "0000652930" "1" "50" "X" "49105970" "49105970" "subst" "0.00346205" "03575" "CCDC22_000023" "g.49105970G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous; {DB:CLININrs147222955}" "Germline" "" "rs147222955" "0" "" "" "g.49249509G>A" "" "VUS" "" "0000659360" "0" "30" "X" "49087047" "49087047" "subst" "0" "01943" "CACNA1F_000157" "g.49087047C>A" "" "" "" "CACNA1F(NM_005183.3):c.546G>T (p.Q182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49230585C>A" "" "likely benign" "" "0000659361" "0" "70" "X" "49088170" "49088170" "subst" "0" "02327" "CACNA1F_000158" "g.49088170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49231708C>T" "" "likely pathogenic" "" "0000659362" "0" "50" "X" "49093590" "49093590" "subst" "0" "01943" "CACNA1F_000159" "g.49093590A>G" "" "" "" "CCDC22(NM_014008.4):c.88A>G (p.T30A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49237123A>G" "" "VUS" "" "0000659363" "0" "50" "X" "49105360" "49105360" "subst" "8.60368E-5" "01943" "CCDC22_000055" "g.49105360G>A" "" "" "" "CCDC22(NM_014008.4):c.1514G>A (p.R505Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49248899G>A" "" "VUS" "" "0000659364" "0" "30" "X" "49114893" "49114893" "subst" "2.28845E-5" "02326" "CCDC22_000053" "g.49114893G>A" "" "" "" "FOXP3(NM_014009.3):c.70C>T (p.P24S), FOXP3(NM_014009.4):c.70C>T (p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49258436G>A" "" "likely benign" "" "0000659365" "0" "30" "X" "49126615" "49126615" "subst" "0" "01943" "CCDC22_000056" "g.49126615G>C" "" "" "" "PPP1R3F(NM_033215.4):c.283G>C (p.E95Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49270152G>C" "" "likely benign" "" "0000670127" "0" "10" "X" "49104943" "49104943" "subst" "0.00759913" "03575" "CCDC22_000001" "g.49104943G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs144632022}" "Germline" "" "rs144632022" "0" "" "" "g.49248482G>A" "" "benign" "" "0000670128" "0" "50" "X" "49105970" "49105970" "subst" "0.00346205" "03575" "CCDC22_000023" "g.49105970G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs147222955}" "Germline" "" "rs147222955" "0" "" "" "g.49249509G>A" "" "VUS" "" "0000682488" "0" "30" "X" "49099767" "49099767" "subst" "1.92813E-5" "01804" "CCDC22_000050" "g.49099767G>A" "" "" "" "CCDC22(NM_014008.3):c.553G>A (p.(Ala185Thr)), CCDC22(NM_014008.4):c.553G>A (p.A185T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682489" "0" "90" "X" "49107820" "49107820" "subst" "0" "02325" "CCDC22_000057" "g.49107820C>T" "" "" "" "FOXP3(NM_014009.4):c.1271G>A (p.C424Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682490" "0" "50" "X" "49126649" "49126649" "subst" "0" "01943" "CCDC22_000058" "g.49126649C>T" "" "" "" "PPP1R3F(NM_033215.4):c.317C>T (p.P106L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693638" "0" "30" "X" "49087008" "49087008" "subst" "0" "01943" "CACNA1F_000181" "g.49087008T>C" "" "" "" "CACNA1F(NM_005183.3):c.585A>G (p.G195=), CACNA1F(NM_005183.4):c.585A>G (p.G195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693639" "0" "30" "X" "49099660" "49099660" "subst" "1.69538E-5" "01943" "CCDC22_000059" "g.49099660A>G" "" "" "" "CCDC22(NM_014008.4):c.535+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693640" "0" "30" "X" "49099743" "49099743" "subst" "0.003626" "01943" "CCDC22_000027" "g.49099743C>T" "" "" "" "CCDC22(NM_014008.3):c.536-7C>T (p.(=)), CCDC22(NM_014008.4):c.536-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693641" "0" "50" "X" "49106612" "49106612" "subst" "1.85457E-5" "02325" "CCDC22_000037" "g.49106612G>A" "" "" "" "CCDC22(NM_014008.5):c.1774G>A (p.E592K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693642" "0" "30" "X" "49113429" "49113429" "subst" "3.38727E-5" "01943" "CCDC22_000060" "g.49113429C>T" "" "" "" "FOXP3(NM_014009.3):c.495G>A (p.P165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693643" "0" "50" "X" "49114183" "49114183" "subst" "0" "02327" "FOXP3_000009" "g.49114183G>A" "" "" "" "FOXP3(NM_014009.3):c.253C>T (p.R85W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728989" "0" "50" "X" "49088195" "49088195" "subst" "0" "02329" "CACNA1F_000011" "g.49088195A>G" "" "" "" "CACNA1F(NM_005183.4):c.220T>C (p.C74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728990" "0" "50" "X" "49088206" "49088206" "subst" "2.81177E-5" "01804" "CACNA1F_000080" "g.49088206C>T" "" "" "" "CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728991" "0" "50" "X" "49104173" "49104173" "subst" "7.71646E-5" "02325" "CCDC22_000061" "g.49104173C>G" "" "" "" "CCDC22(NM_014008.4):c.1036C>G (p.R346G), CCDC22(NM_014008.5):c.1036C>G (p.R346G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728992" "0" "50" "X" "49104693" "49104693" "subst" "0.000123512" "01943" "CCDC22_000031" "g.49104693G>C" "" "" "" "CCDC22(NM_014008.4):c.1134G>C (p.E378D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728993" "0" "50" "X" "49106025" "49106025" "subst" "0" "02327" "CCDC22_000062" "g.49106025A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728994" "0" "30" "X" "49113897" "49113897" "subst" "0" "01943" "CCDC22_000063" "g.49113897A>G" "" "" "" "FOXP3(NM_014009.3):c.441T>C (p.P147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728995" "0" "30" "X" "49114014" "49114014" "subst" "0.000599184" "01943" "CCDC22_000064" "g.49114014C>T" "" "" "" "FOXP3(NM_014009.3):c.324G>A (p.T108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728996" "0" "30" "X" "49126534" "49126534" "subst" "0" "01943" "CCDC22_000065" "g.49126534G>A" "" "" "" "PPP1R3F(NM_033215.4):c.202G>A (p.A68T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810476" "0" "70" "X" "49087087" "49087087" "subst" "0" "02330" "CACNA1F_000097" "g.49087087C>T" "" "" "" "CACNA1F(NM_005183.4):c.522-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810477" "0" "10" "X" "49104709" "49104709" "subst" "0.00295386" "02325" "CCDC22_000019" "g.49104709C>T" "" "" "" "CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810478" "0" "30" "X" "49105390" "49105390" "subst" "0" "02325" "CCDC22_000066" "g.49105390A>G" "" "" "" "CCDC22(NM_014008.5):c.1539+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810479" "0" "50" "X" "49114811" "49114811" "subst" "0" "01943" "CCDC22_000067" "g.49114811C>A" "" "" "" "FOXP3(NM_014009.3):c.152G>T (p.R51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856674" "0" "30" "X" "49088325" "49088325" "subst" "7.70363E-5" "01943" "CACNA1F_000483" "g.49088325G>A" "" "" "" "CACNA1F(NM_005183.3):c.90C>T (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856675" "0" "30" "X" "49113891" "49113891" "subst" "0" "01943" "CCDC22_000071" "g.49113891G>A" "" "" "" "FOXP3(NM_014009.3):c.447C>T (p.L149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867432" "0" "30" "X" "49098493" "49098493" "subst" "2.2555E-5" "01943" "CCDC22_000068" "g.49098493T>C" "" "" "" "CCDC22(NM_014008.4):c.240T>C (p.Y80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867433" "0" "30" "X" "49099347" "49099347" "subst" "0" "01943" "CCDC22_000069" "g.49099347C>T" "" "" "" "CCDC22(NM_014008.4):c.362-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867434" "0" "30" "X" "49104173" "49104173" "subst" "7.71646E-5" "01943" "CCDC22_000061" "g.49104173C>G" "" "" "" "CCDC22(NM_014008.4):c.1036C>G (p.R346G), CCDC22(NM_014008.5):c.1036C>G (p.R346G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867435" "0" "50" "X" "49106657" "49106657" "subst" "0" "01943" "CCDC22_000070" "g.49106657C>T" "" "" "" "CCDC22(NM_014008.4):c.1819C>T (p.R607W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874534" "21" "70" "X" "49099914" "49099914" "subst" "0" "04366" "CCDC22_000072" "g.49099914C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49243448C>T" "" "likely pathogenic" "ACMG" "0000896278" "0" "30" "X" "49103246" "49103246" "subst" "5.11289E-5" "02327" "CCDC22_000073" "g.49103246C>T" "" "" "" "CCDC22(NM_014008.5):c.769C>T (p.R257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896279" "0" "50" "X" "49103246" "49103246" "subst" "5.11289E-5" "02325" "CCDC22_000073" "g.49103246C>T" "" "" "" "CCDC22(NM_014008.5):c.769C>T (p.R257C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896280" "0" "90" "X" "49109591" "49109591" "subst" "0" "02327" "CCDC22_000074" "g.49109591C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896281" "0" "10" "X" "49115886" "49115886" "subst" "0" "02326" "CCDC22_000075" "g.49115886T>C" "" "" "" "FOXP3(NM_014009.3):c.-22-902A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915732" "0" "50" "X" "49098512" "49098512" "subst" "0" "02329" "CCDC22_000076" "g.49098512C>A" "" "" "" "CCDC22(NM_014008.5):c.259C>A (p.Q87K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927393" "0" "90" "X" "49087008" "49087008" "del" "0" "02330" "CACNA1F_000496" "g.49087008del" "" "" "" "CACNA1F(NM_005183.4):c.587delA (p.K196Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931431" "0" "90" "X" "49087423" "49087423" "del" "0" "02330" "CACNA1F_000411" "g.49087423del" "" "" "" "CACNA1F(NM_005183.4):c.413delT (p.F138Sfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951769" "0" "50" "X" "49086976" "49086976" "subst" "0" "02327" "CACNA1F_000501" "g.49086976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951770" "0" "30" "X" "49087008" "49087008" "subst" "0" "02330" "CACNA1F_000181" "g.49087008T>C" "" "" "" "CACNA1F(NM_005183.3):c.585A>G (p.G195=), CACNA1F(NM_005183.4):c.585A>G (p.G195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971149" "0" "50" "X" "49087325" "49087325" "subst" "0" "02327" "CACNA1F_000514" "g.49087325T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971150" "0" "50" "X" "49087384" "49087384" "subst" "0" "02327" "CACNA1F_000515" "g.49087384C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971151" "0" "70" "X" "49093730" "49093730" "subst" "0" "02327" "CACNA1F_000516" "g.49093730G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000971154" "0" "30" "X" "49104730" "49104730" "subst" "0.000117936" "02325" "CCDC22_000032" "g.49104730G>C" "" "" "" "CCDC22(NM_014008.5):c.1171G>C (p.E391Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971155" "0" "50" "X" "49113418" "49113418" "subst" "0" "02329" "CCDC22_000078" "g.49113418C>T" "" "" "" "FOXP3(NM_014009.4):c.506G>A (p.C169Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984728" "0" "30" "X" "49088292" "49088292" "subst" "0.0020144" "01804" "CACNA1F_000083" "g.49088292C>T" "" "" "" "CACNA1F(NM_001256789.3):c.123G>A (p.(Gly41=)), CACNA1F(NM_005183.3):c.123G>A (p.G41=), CACNA1F(NM_005183.4):c.123G>A (p.G41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984729" "0" "70" "X" "49107869" "49107869" "subst" "0" "02326" "CCDC22_000079" "g.49107869C>T" "" "" "" "FOXP3(NM_014009.3):c.1222G>A (p.V408M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984730" "0" "10" "X" "49113312" "49113312" "subst" "0.0315965" "01804" "FOXP3_000008" "g.49113312G>A" "" "" "" "FOXP3(NM_014009.3):c.543C>T (p.S181=), FOXP3(NM_014009.4):c.543C>T (p.(Ser181=), p.S181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984731" "0" "30" "X" "49114743" "49114743" "subst" "0" "01804" "CCDC22_000080" "g.49114743A>G" "" "" "" "FOXP3(NM_014009.4):c.210+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006816" "0" "70" "X" "49087015" "49087015" "del" "0" "01804" "CACNA1F_000134" "g.49087015del" "" "" "" "CACNA1F(NM_001256789.1):c.579delC (p.(Gly195fs)), CACNA1F(NM_005183.4):c.579delC (p.G195Efs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006817" "0" "50" "X" "49087414" "49087414" "subst" "0" "01804" "CACNA1F_000527" "g.49087414A>C" "" "" "" "CACNA1F(NM_001256789.1):c.419T>G (p.(Val140Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006818" "0" "30" "X" "49088375" "49088375" "subst" "1.66554E-5" "01804" "CACNA1F_000528" "g.49088375G>A" "" "" "" "CACNA1F(NM_001256789.1):c.40C>T (p.(Pro14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006819" "0" "50" "X" "49088392" "49088392" "subst" "0" "01804" "CACNA1F_000529" "g.49088392A>G" "" "" "" "CACNA1F(NM_001256789.1):c.26-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006820" "0" "30" "X" "49104189" "49104189" "subst" "0" "01804" "CCDC22_000081" "g.49104189T>C" "" "" "" "CCDC22(NM_014008.3):c.1052T>C (p.(Val351Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006821" "0" "50" "X" "49113929" "49113929" "subst" "0" "01804" "CCDC22_000082" "g.49113929C>T" "" "" "" "FOXP3(NM_014009.3):c.409G>A (p.(Ala137Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006822" "0" "30" "X" "49113977" "49113977" "subst" "6.3575E-5" "01804" "CCDC22_000083" "g.49113977G>A" "" "" "" "FOXP3(NM_014009.3):c.361C>T (p.(His121Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006823" "0" "50" "X" "49113997" "49113997" "subst" "2.68913E-5" "01804" "CCDC22_000084" "g.49113997C>T" "" "" "" "FOXP3(NM_014009.3):c.341G>A (p.(Arg114Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006824" "0" "30" "X" "49126409" "49126409" "subst" "0" "01804" "CCDC22_000085" "g.49126409C>A" "" "" "" "PPP1R3F(NM_033215.4):c.77C>A (p.(Thr26Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006825" "0" "30" "X" "49126563" "49126565" "dup" "0" "01804" "CCDC22_000086" "g.49126563_49126565dup" "" "" "" "PPP1R3F(NM_033215.4):c.231_233dupCGG (p.(Gly78dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006826" "0" "50" "X" "49126736" "49126736" "subst" "0" "01804" "CCDC22_000087" "g.49126736T>C" "" "" "" "PPP1R3F(NM_033215.4):c.404T>C (p.(Met135Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006827" "0" "50" "X" "49126796" "49126796" "subst" "1.45195E-5" "01804" "CCDC22_000046" "g.49126796G>T" "" "" "" "PPP1R3F(NM_033215.4):c.464G>T (p.W155L, p.(Trp155Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006828" "0" "50" "X" "49126801" "49126801" "subst" "2.79642E-5" "01804" "CCDC22_000047" "g.49126801C>T" "" "" "" "PPP1R3F(NM_033215.4):c.469C>T (p.P157S, p.(Pro157Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016040" "0" "30" "X" "49113312" "49113312" "subst" "0.0315965" "02325" "FOXP3_000008" "g.49113312G>A" "" "" "" "FOXP3(NM_014009.3):c.543C>T (p.S181=), FOXP3(NM_014009.4):c.543C>T (p.(Ser181=), p.S181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027511" "0" "50" "X" "49104149" "49104149" "subst" "0" "02325" "CCDC22_000088" "g.49104149C>T" "" "" "" "CCDC22(NM_014008.5):c.1012C>T (p.R338W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027512" "0" "50" "X" "49106142" "49106142" "subst" "5.05076E-5" "02325" "CCDC22_000089" "g.49106142G>A" "" "" "" "CCDC22(NM_014008.5):c.1726G>A (p.D576N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044382" "0" "30" "X" "49105271" "49105271" "dup" "0" "01804" "CCDC22_000090" "g.49105271dup" "" "" "" "CCDC22(NM_014008.5):c.1432-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044383" "0" "30" "X" "49114893" "49114893" "subst" "2.28845E-5" "01804" "CCDC22_000053" "g.49114893G>A" "" "" "" "FOXP3(NM_014009.3):c.70C>T (p.P24S), FOXP3(NM_014009.4):c.70C>T (p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046868" "0" "50" "X" "49113925" "49113925" "subst" "0" "02325" "CCDC22_000091" "g.49113925G>A" "" "" "" "FOXP3(NM_014009.4):c.413C>T (p.T138I)" "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 CCDC22 ## Count = 155 "{{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}}" "0000006862" "00000428" "50" "51" "-25" "51" "-25" "c.51-25T>C" "r.(=)" "p.(=)" "" "0000006863" "00000428" "50" "361" "17" "361" "17" "c.361+17A>G" "r.(=)" "p.(=)" "" "0000006864" "00000428" "50" "715" "-95" "715" "-95" "c.715-95T>A" "r.(=)" "p.(=)" "" "0000006865" "00000428" "50" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Gln249=)" "" "0000008932" "00000428" "50" "51" "-25" "51" "-25" "c.51-25T>C" "r.(=)" "p.(=)" "" "0000008933" "00000428" "50" "361" "17" "361" "17" "c.361+17A>G" "r.(=)" "p.(=)" "" "0000008934" "00000428" "50" "715" "-95" "715" "-95" "c.715-95T>A" "r.(=)" "p.(=)" "" "0000008935" "00000428" "50" "747" "0" "747" "0" "c.747G>A" "r.(?)" "p.(Gln249=)" "" "0000014830" "00000428" "50" "1771" "-74" "1771" "-74" "c.1771-74T>G" "r.(=)" "p.(=)" "" "0000194514" "00000428" "50" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Thr17Ala)" "1" "0000194515" "00000428" "50" "715" "0" "715" "0" "c.715G>A" "r.(spl?)" "p.(Glu239Lys)" "7" "0000194516" "00000428" "30" "747" "0" "747" "0" "c.747A>G" "r.(?)" "p.(=)" "7" "0000194517" "00000428" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Ala430Thr)" "11" "0000194518" "00000428" "70" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(Tyr557Cys)" "15" "0000256237" "00000428" "50" "7125" "0" "7125" "0" "c.*5241A>G" "r.(=)" "p.(=)" "" "0000272488" "00000428" "30" "-3805" "0" "-3805" "0" "c.-3805C>T" "r.(?)" "p.(=)" "" "0000272490" "00000428" "30" "-3824" "0" "-3824" "0" "c.-3824G>T" "r.(?)" "p.(=)" "" "0000272495" "00000428" "50" "-3891" "0" "-3891" "0" "c.-3891C>T" "r.(?)" "p.(=)" "" "0000272753" "00000428" "10" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000272754" "00000428" "10" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388His)" "" "0000272755" "00000428" "10" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0000272756" "00000428" "30" "636" "0" "636" "0" "c.636G>T" "r.(?)" "p.(Leu212=)" "" "0000272757" "00000428" "30" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" "0000284093" "00000428" "30" "8474" "0" "8474" "0" "c.*6590G>A" "r.(=)" "p.(=)" "" "0000287868" "00000428" "50" "9345" "0" "9345" "0" "c.*7461G>A" "r.(=)" "p.(=)" "" "0000306241" "00000428" "30" "22337" "0" "22337" "0" "c.*20453C>T" "r.(=)" "p.(=)" "" "0000334095" "00000428" "50" "-3955" "0" "-3955" "0" "c.-3955C>G" "r.(?)" "p.(=)" "" "0000334098" "00000428" "50" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Ile130Thr)" "" "0000334099" "00000428" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000334103" "00000428" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Arg379His)" "" "0000334104" "00000428" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000334107" "00000428" "30" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388His)" "" "0000334109" "00000428" "50" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0000334112" "00000428" "30" "9970" "0" "9970" "0" "c.*8086C>A" "r.(=)" "p.(=)" "" "0000334113" "00000428" "50" "22116" "0" "22116" "0" "c.*20232G>A" "r.(=)" "p.(=)" "" "0000341469" "00000428" "50" "1475" "0" "1475" "0" "c.1475C>G" "r.(?)" "p.(Ala492Gly)" "" "0000348206" "00000428" "10" "-3723" "0" "-3723" "0" "c.-3723G>A" "r.(?)" "p.(=)" "" "0000351248" "00000428" "50" "362" "-1" "362" "-1" "c.362-1G>C" "r.spl?" "p.?" "" "0000576384" "00000428" "10" "-5086" "0" "-5086" "0" "c.-5086C>T" "r.(?)" "p.(=)" "" "0000576385" "00000428" "90" "-5082" "0" "-5082" "0" "c.-5082del" "r.(?)" "p.(=)" "" "0000576386" "00000428" "10" "-4762" "0" "-4762" "0" "c.-4762G>C" "r.(?)" "p.(=)" "" "0000576387" "00000428" "10" "-4657" "0" "-4657" "0" "c.-4657C>T" "r.(?)" "p.(=)" "" "0000576388" "00000428" "10" "-3805" "0" "-3805" "0" "c.-3805C>T" "r.(?)" "p.(=)" "" "0000576389" "00000428" "50" "-3722" "0" "-3722" "0" "c.-3722G>T" "r.(?)" "p.(=)" "" "0000576390" "00000428" "30" "161" "0" "161" "0" "c.161G>C" "r.(?)" "p.(Ser54Thr)" "" "0000576391" "00000428" "10" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Ile130Thr)" "" "0000576392" "00000428" "50" "421" "0" "421" "0" "c.421C>A" "r.(?)" "p.(Pro141Thr)" "" "0000576393" "00000428" "30" "536" "-7" "536" "-7" "c.536-7C>T" "r.(=)" "p.(=)" "" "0000576394" "00000428" "30" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000576397" "00000428" "30" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" "0000576398" "00000428" "50" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Trp)" "" "0000576399" "00000428" "30" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "" "0000576400" "00000428" "30" "1134" "0" "1134" "0" "c.1134G>C" "r.(?)" "p.(Glu378Asp)" "" "0000576401" "00000428" "30" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000576402" "00000428" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Cys)" "" "0000576404" "00000428" "30" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Ala430Thr)" "" "0000576405" "00000428" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Glu445Lys)" "" "0000576406" "00000428" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0000576407" "00000428" "30" "1432" "0" "1432" "0" "c.1432A>C" "r.(?)" "p.(Met478Leu)" "" "0000576408" "00000428" "30" "1556" "0" "1556" "0" "c.1556A>G" "r.(?)" "p.(Lys519Arg)" "" "0000576410" "00000428" "50" "3372" "0" "3372" "0" "c.*1488G>A" "r.(=)" "p.(=)" "" "0000576411" "00000428" "30" "3382" "0" "3382" "0" "c.*1498G>A" "r.(=)" "p.(=)" "" "0000576412" "00000428" "50" "7056" "0" "7056" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000576413" "00000428" "70" "7120" "0" "7122" "0" "c.*5236_*5238del" "r.(=)" "p.(=)" "" "0000576414" "00000428" "30" "9169" "0" "9169" "0" "c.*7285C>T" "r.(=)" "p.(=)" "" "0000576415" "00000428" "50" "9177" "0" "9177" "0" "c.*7293G>A" "r.(=)" "p.(=)" "" "0000576416" "00000428" "30" "9956" "0" "9958" "0" "c.*8072_*8074del" "r.(=)" "p.(=)" "" "0000576417" "00000428" "30" "10057" "0" "10057" "0" "c.*8173G>A" "r.(=)" "p.(=)" "" "0000576418" "00000428" "30" "21958" "0" "21958" "0" "c.*20074G>T" "r.(=)" "p.(=)" "" "0000576419" "00000428" "30" "21963" "0" "21963" "0" "c.*20079C>T" "r.(=)" "p.(=)" "" "0000576420" "00000428" "50" "22110" "0" "22110" "0" "c.*20226G>T" "r.(=)" "p.(=)" "" "0000576421" "00000428" "50" "22114" "0" "22114" "0" "c.*20230G>T" "r.(=)" "p.(=)" "" "0000619659" "00000428" "70" "-5010" "0" "-5010" "0" "c.-5010C>T" "r.(?)" "p.(=)" "" "0000619660" "00000428" "30" "-4657" "0" "-4657" "0" "c.-4657C>T" "r.(?)" "p.(=)" "" "0000619661" "00000428" "30" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Ala28=)" "" "0000619662" "00000428" "30" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Ala185Thr)" "" "0000619663" "00000428" "30" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Glu471Gly)" "" "0000619664" "00000428" "50" "9177" "0" "9177" "0" "c.*7293G>A" "r.(=)" "p.(=)" "" "0000619665" "00000428" "30" "10055" "0" "10055" "0" "c.*8171G>A" "r.(=)" "p.(=)" "" "0000624647" "00000428" "30" "1388" "0" "1388" "0" "c.1388C>G" "r.(?)" "p.(Ala463Gly)" "" "0000624648" "00000428" "50" "21738" "0" "21738" "0" "c.*19854G>T" "r.(=)" "p.(=)" "" "0000652930" "00000428" "50" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0000659360" "00000428" "30" "-5050" "0" "-5050" "0" "c.-5050C>A" "r.(?)" "p.(=)" "" "0000659361" "00000428" "70" "-3927" "0" "-3927" "0" "c.-3927C>T" "r.(?)" "p.(=)" "" "0000659362" "00000428" "50" "88" "0" "88" "0" "c.88A>G" "r.(?)" "p.(Thr30Ala)" "" "0000659363" "00000428" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Arg505Gln)" "" "0000659364" "00000428" "30" "10055" "0" "10055" "0" "c.*8171G>A" "r.(=)" "p.(=)" "" "0000659365" "00000428" "30" "21777" "0" "21777" "0" "c.*19893G>C" "r.(=)" "p.(=)" "" "0000670127" "00000428" "10" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Ala430Thr)" "" "0000670128" "00000428" "50" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0000682488" "00000428" "30" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Ala185Thr)" "" "0000682489" "00000428" "90" "2982" "0" "2982" "0" "c.*1098C>T" "r.(=)" "p.(=)" "" "0000682490" "00000428" "50" "21811" "0" "21811" "0" "c.*19927C>T" "r.(=)" "p.(=)" "" "0000693638" "00000428" "30" "-5089" "0" "-5089" "0" "c.-5089T>C" "r.(?)" "p.(=)" "" "0000693639" "00000428" "30" "535" "10" "535" "10" "c.535+10A>G" "r.(=)" "p.(=)" "" "0000693640" "00000428" "30" "536" "-7" "536" "-7" "c.536-7C>T" "r.(=)" "p.(=)" "" "0000693641" "00000428" "50" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Glu592Lys)" "" "0000693642" "00000428" "30" "8591" "0" "8591" "0" "c.*6707C>T" "r.(=)" "p.(=)" "" "0000693643" "00000428" "50" "9345" "0" "9345" "0" "c.*7461G>A" "r.(=)" "p.(=)" "" "0000728989" "00000428" "50" "-3902" "0" "-3902" "0" "c.-3902A>G" "r.(?)" "p.(=)" "" "0000728990" "00000428" "50" "-3891" "0" "-3891" "0" "c.-3891C>T" "r.(?)" "p.(=)" "" "0000728991" "00000428" "50" "1036" "0" "1036" "0" "c.1036C>G" "r.(?)" "p.(Arg346Gly)" "" "0000728992" "00000428" "50" "1134" "0" "1134" "0" "c.1134G>C" "r.(?)" "p.(Glu378Asp)" "" "0000728993" "00000428" "50" "1691" "0" "1691" "0" "c.1691A>C" "r.(?)" "p.(His564Pro)" "" "0000728994" "00000428" "30" "9059" "0" "9059" "0" "c.*7175A>G" "r.(=)" "p.(=)" "" "0000728995" "00000428" "30" "9176" "0" "9176" "0" "c.*7292C>T" "r.(=)" "p.(=)" "" "0000728996" "00000428" "30" "21696" "0" "21696" "0" "c.*19812G>A" "r.(=)" "p.(=)" "" "0000810476" "00000428" "70" "-5010" "0" "-5010" "0" "c.-5010C>T" "r.(?)" "p.(=)" "" "0000810477" "00000428" "10" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Arg384Cys)" "" "0000810478" "00000428" "30" "1539" "5" "1539" "5" "c.1539+5A>G" "r.spl?" "p.?" "" "0000810479" "00000428" "50" "9973" "0" "9973" "0" "c.*8089C>A" "r.(=)" "p.(=)" "" "0000856674" "00000428" "30" "-3772" "0" "-3772" "0" "c.-3772G>A" "r.(?)" "p.(=)" "" "0000856675" "00000428" "30" "9053" "0" "9053" "0" "c.*7169G>A" "r.(=)" "p.(=)" "" "0000867432" "00000428" "30" "240" "0" "240" "0" "c.240T>C" "r.(?)" "p.(Tyr80=)" "" "0000867433" "00000428" "30" "362" "-5" "362" "-5" "c.362-5C>T" "r.spl?" "p.?" "" "0000867434" "00000428" "30" "1036" "0" "1036" "0" "c.1036C>G" "r.(?)" "p.(Arg346Gly)" "" "0000867435" "00000428" "50" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Trp)" "" "0000874534" "00000428" "70" "700" "0" "700" "0" "c.700C>T" "r.(700c>u)" "p.(Arg234Cys)" "6" "0000896278" "00000428" "30" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000896279" "00000428" "50" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Cys)" "" "0000896280" "00000428" "90" "4753" "0" "4753" "0" "c.*2869C>T" "r.(=)" "p.(=)" "" "0000896281" "00000428" "10" "11048" "0" "11048" "0" "c.*9164T>C" "r.(=)" "p.(=)" "" "0000915732" "00000428" "50" "259" "0" "259" "0" "c.259C>A" "r.(?)" "p.(Gln87Lys)" "" "0000927393" "00000428" "90" "-5089" "0" "-5089" "0" "c.-5089del" "r.(?)" "p.(=)" "" "0000931431" "00000428" "90" "-4674" "0" "-4674" "0" "c.-4674del" "r.(?)" "p.(=)" "" "0000951769" "00000428" "50" "-5121" "0" "-5121" "0" "c.-5121C>T" "r.(?)" "p.(=)" "" "0000951770" "00000428" "30" "-5089" "0" "-5089" "0" "c.-5089T>C" "r.(?)" "p.(=)" "" "0000971149" "00000428" "50" "-4772" "0" "-4772" "0" "c.-4772T>A" "r.(?)" "p.(=)" "" "0000971150" "00000428" "50" "-4713" "0" "-4713" "0" "c.-4713C>T" "r.(?)" "p.(=)" "" "0000971151" "00000428" "70" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Met76Ile)" "" "0000971154" "00000428" "30" "1171" "0" "1171" "0" "c.1171G>C" "r.(?)" "p.(Glu391Gln)" "" "0000971155" "00000428" "50" "8580" "0" "8580" "0" "c.*6696C>T" "r.(=)" "p.(=)" "" "0000984728" "00000428" "30" "-3805" "0" "-3805" "0" "c.-3805C>T" "r.(?)" "p.(=)" "" "0000984729" "00000428" "70" "3031" "0" "3031" "0" "c.*1147C>T" "r.(=)" "p.(=)" "" "0000984730" "00000428" "10" "8474" "0" "8474" "0" "c.*6590G>A" "r.(=)" "p.(=)" "" "0000984731" "00000428" "30" "9905" "0" "9905" "0" "c.*8021A>G" "r.(=)" "p.(=)" "" "0001006816" "00000428" "70" "-5082" "0" "-5082" "0" "c.-5082del" "r.(?)" "p.(=)" "" "0001006817" "00000428" "50" "-4683" "0" "-4683" "0" "c.-4683A>C" "r.(?)" "p.(=)" "" "0001006818" "00000428" "30" "-3722" "0" "-3722" "0" "c.-3722G>A" "r.(?)" "p.(=)" "" "0001006819" "00000428" "50" "-3705" "0" "-3705" "0" "c.-3705A>G" "r.(?)" "p.(=)" "" "0001006820" "00000428" "30" "1052" "0" "1052" "0" "c.1052T>C" "r.(?)" "p.(Val351Ala)" "" "0001006821" "00000428" "50" "9091" "0" "9091" "0" "c.*7207C>T" "r.(=)" "p.(=)" "" "0001006822" "00000428" "30" "9139" "0" "9139" "0" "c.*7255G>A" "r.(=)" "p.(=)" "" "0001006823" "00000428" "50" "9159" "0" "9159" "0" "c.*7275C>T" "r.(=)" "p.(=)" "" "0001006824" "00000428" "30" "21571" "0" "21571" "0" "c.*19687C>A" "r.(=)" "p.(=)" "" "0001006825" "00000428" "30" "21725" "0" "21727" "0" "c.*19841_*19843dup" "r.(=)" "p.(=)" "" "0001006826" "00000428" "50" "21898" "0" "21898" "0" "c.*20014T>C" "r.(=)" "p.(=)" "" "0001006827" "00000428" "50" "21958" "0" "21958" "0" "c.*20074G>T" "r.(=)" "p.(=)" "" "0001006828" "00000428" "50" "21963" "0" "21963" "0" "c.*20079C>T" "r.(=)" "p.(=)" "" "0001016040" "00000428" "30" "8474" "0" "8474" "0" "c.*6590G>A" "r.(=)" "p.(=)" "" "0001027511" "00000428" "50" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Trp)" "" "0001027512" "00000428" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Asp576Asn)" "" "0001044382" "00000428" "30" "1432" "-7" "1432" "-7" "c.1432-7dup" "r.(=)" "p.(=)" "" "0001044383" "00000428" "30" "10055" "0" "10055" "0" "c.*8171G>A" "r.(=)" "p.(=)" "" "0001046868" "00000428" "50" "9087" "0" "9087" "0" "c.*7203G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006862" "0000000209" "0000006863" "0000000209" "0000006864" "0000000209" "0000006865" "0000000210" "0000008932" "0000000210" "0000008933" "0000000210" "0000008934" "0000000210" "0000008935" "0000000210" "0000014830" "0000118409" "0000194514" "0000118410" "0000194515" "0000118411" "0000194516" "0000118412" "0000194517" "0000118413" "0000194518" "0000296241" "0000652930" "0000306439" "0000670127" "0000306440" "0000670128" "0000416447" "0000874534"