### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CNGA2) # 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}}" "CNGA2" "cyclic nucleotide gated channel alpha 2" "X" "q27" "unknown" "NG_016352.1" "UD_132118219684" "" "https://www.LOVD.nl/CNGA2" "" "1" "2149" "1260" "300338" "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/CNGA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-03-05 17:09:08" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000445" "CNGA2" "cyclic nucleotide gated channel alpha 2" "001" "NM_005140.1" "" "NP_005131.1" "" "" "" "-224" "3061" "1995" "150903218" "150914036" "00000" "2012-09-13 12:16:23" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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" "" "" "" "" "00039401" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172582" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172583" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172584" "" "" "" "11" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172585" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172586" "" "" "" "23" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172587" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172588" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172589" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172590" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00039401" "00139" "00039401" "04282" "00172582" "00187" "00172583" "00187" "00172584" "00187" "00172585" "00187" "00172586" "00187" "00172587" "00187" "00172588" "00187" "00172589" "00187" "00172590" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 04282 ## Count = 11 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "0000078833" "04282" "00039401" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "0000137446" "00187" "00172582" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137447" "00187" "00172583" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137448" "00187" "00172584" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137449" "00187" "00172585" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137450" "00187" "00172586" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137451" "00187" "00172587" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137452" "00187" "00172588" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137453" "00187" "00172589" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137454" "00187" "00172590" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## 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" "" "" "0000039642" "00039401" "1" "01158" "01158" "2015-06-15 15:06:59" "" "" "SEQ-NG" "DNA" "" "" "0000173465" "00172582" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173466" "00172583" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173467" "00172584" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173468" "00172585" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173469" "00172586" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173470" "00172587" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173471" "00172588" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173472" "00172589" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173473" "00172590" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000173465" "CNGA2" "0000173466" "CNGA2" "0000173467" "CNGA2" "0000173468" "CNGA2" "0000173469" "CNGA2" "0000173470" "CNGA2" "0000173471" "LPAR4" "0000173472" "GRPR" "0000173473" "GRPR" ## 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 = 36 "{{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}}" "0000003301" "0" "50" "X" "150911414" "150911415" "ins" "0" "00037" "CNGA2_000013" "g.150911414_150911415insCG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151742942_151742943insCG" "" "VUS" "" "0000007876" "0" "50" "X" "150911055" "150911055" "subst" "0" "00037" "CNGA2_000011" "g.150911055T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151742583T>G" "" "VUS" "" "0000007877" "0" "50" "X" "150911513" "150911513" "subst" "0" "00037" "CNGA2_000012" "g.150911513T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.151743041T>C" "" "VUS" "" "0000067262" "21" "10" "X" "150911796" "150911796" "subst" "0.000963467" "01158" "CNGA2_000010" "g.150911796G>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "present in maternal grandfather" "Germline" "no" "" "0" "" "" "g.151743324G>A" "" "benign" "" "0000253637" "0" "10" "X" "150906999" "150906999" "subst" "0.00173045" "01943" "CNGA2_000014" "g.150906999A>C" "" "" "" "CNGA2(NM_005140.1):c.44A>C (p.N15T, p.(Asn15Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151738527A>C" "" "benign" "" "0000256089" "0" "50" "X" "150912452" "150912452" "subst" "0" "01943" "CNGA2_000023" "g.150912452A>G" "" "" "" "CNGA2(NM_005140.1):c.1477A>G (p.I493V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151743980A>G" "" "VUS" "" "0000273645" "0" "50" "X" "150912211" "150912211" "subst" "0" "01943" "CNGA2_000022" "g.150912211G>T" "" "" "" "CNGA2(NM_005140.1):c.1236G>T (p.W412C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151743739G>T" "" "VUS" "" "0000273646" "0" "50" "X" "150912849" "150912849" "subst" "1.68324E-5" "01943" "CNGA2_000025" "g.150912849C>G" "" "" "" "CNGA2(NM_005140.1):c.1874C>G (p.A625G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151744377C>G" "" "VUS" "" "0000273647" "0" "30" "X" "150911117" "150911117" "subst" "0" "01943" "CNGA2_000018" "g.150911117C>T" "" "" "" "CNGA2(NM_005140.1):c.589+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151742645C>T" "" "likely benign" "" "0000273648" "0" "50" "X" "150907016" "150907016" "subst" "0.000145566" "01943" "CNGA2_000015" "g.150907016C>A" "" "" "" "CNGA2(NM_005140.1):c.61C>A (p.P21T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151738544C>A" "" "VUS" "" "0000273649" "0" "50" "X" "150911806" "150911806" "subst" "0" "01943" "CNGA2_000020" "g.150911806C>A" "" "" "" "CNGA2(NM_005140.1):c.831C>A (p.N277K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151743334C>A" "" "VUS" "" "0000335907" "0" "50" "X" "150906999" "150906999" "subst" "0.00173045" "01804" "CNGA2_000014" "g.150906999A>C" "" "" "" "CNGA2(NM_005140.1):c.44A>C (p.N15T, p.(Asn15Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151738527A>C" "" "VUS" "" "0000335908" "0" "30" "X" "150908168" "150908168" "subst" "0.00565703" "01804" "CNGA2_000016" "g.150908168G>T" "" "" "" "CNGA2(NM_005140.1):c.338G>T (p.(Gly113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151739696G>T" "" "likely benign" "" "0000335911" "0" "50" "X" "150911796" "150911796" "subst" "0.000963467" "01804" "CNGA2_000010" "g.150911796G>A" "" "" "" "CNGA2(NM_005140.1):c.821G>A (p.(Arg274His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151743324G>A" "" "VUS" "" "0000335912" "0" "30" "X" "150912056" "150912056" "subst" "0.0108188" "01804" "CNGA2_000021" "g.150912056G>A" "" "" "" "CNGA2(NM_005140.1):c.1081G>A (p.(Val361Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151743584G>A" "" "likely benign" "" "0000393322" "1" "50" "X" "150912056" "150912056" "subst" "0.0108188" "00124" "CNGA2_000021" "g.150912056G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.151743584G>A" "" "VUS" "" "0000393323" "1" "30" "X" "150912502" "150912502" "subst" "0.00514566" "00124" "CNGA2_000031" "g.150912502G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Q509Q" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151744030G>A" "" "likely benign" "" "0000393324" "1" "50" "X" "150912962" "150912962" "subst" "0.0827845" "00124" "CNGA2_000032" "g.150912962G>A" "11/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 11 times" "Germline" "" "" "0" "" "" "g.151744490G>A" "" "VUS" "" "0000393325" "1" "50" "X" "150908168" "150908168" "subst" "0.00565703" "00124" "CNGA2_000016" "g.150908168G>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.151739696G>T" "" "VUS" "" "0000393326" "1" "50" "X" "150909307" "150909307" "subst" "0.141816" "00124" "CNGA2_000026" "g.150909307G>T" "23/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 23 times" "Germline" "" "" "0" "" "" "g.151740835G>T" "" "VUS" "" "0000393327" "1" "30" "X" "150911107" "150911107" "subst" "0.0731364" "00124" "CNGA2_000027" "g.150911107G>A" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L194L" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.151742635G>A" "" "likely benign" "" "0000393328" "1" "50" "X" "150911609" "150911609" "subst" "0" "00124" "CNGA2_000028" "g.150911609C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151743137C>G" "" "VUS" "" "0000393329" "1" "30" "X" "150911815" "150911815" "subst" "0.00332045" "00124" "CNGA2_000029" "g.150911815C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L280L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151743343C>T" "" "likely benign" "" "0000393330" "1" "50" "X" "150911888" "150911888" "subst" "3.91856E-5" "00124" "CNGA2_000030" "g.150911888G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.151743416G>A" "" "VUS" "" "0000574157" "0" "50" "X" "150911721" "150911721" "subst" "0" "01804" "CNGA2_000033" "g.150911721G>A" "" "" "" "CNGA2(NM_005140.1):c.746G>A (p.(Arg249His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151743249G>A" "" "VUS" "" "0000574160" "0" "50" "X" "150912824" "150912824" "subst" "0" "01804" "CNGA2_000035" "g.150912824C>A" "" "" "" "CNGA2(NM_005140.1):c.1849C>A (p.(Arg617Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151744352C>A" "" "VUS" "" "0000619133" "0" "30" "X" "150912700" "150912700" "subst" "2.80294E-5" "01943" "CNGA2_000036" "g.150912700G>A" "" "" "" "CNGA2(NM_005140.1):c.1725G>A (p.R575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151744228G>A" "" "likely benign" "" "0000682182" "0" "30" "X" "150907342" "150907342" "subst" "8.97207E-5" "01943" "CNGA2_000037" "g.150907342G>T" "" "" "" "CNGA2(NM_005140.1):c.194G>T (p.G65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682183" "0" "30" "X" "150908126" "150908126" "subst" "2.23859E-5" "01943" "CNGA2_000038" "g.150908126G>A" "" "" "" "CNGA2(NM_005140.1):c.296G>A (p.R99H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682184" "0" "30" "X" "150909342" "150909342" "subst" "0.000168154" "01804" "CNGA2_000039" "g.150909342G>A" "" "" "" "CNGA2(NM_005140.1):c.451G>A (p.(Val151Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682185" "0" "50" "X" "150911988" "150911988" "subst" "8.39222E-5" "01943" "CNGA2_000040" "g.150911988T>C" "" "" "" "CNGA2(NM_005140.1):c.1013T>C (p.I338T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867139" "0" "50" "X" "150909285" "150909285" "subst" "5.04123E-5" "01943" "CNGA2_000041" "g.150909285G>T" "" "" "" "CNGA2(NM_005140.1):c.394G>T (p.V132F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970831" "0" "10" "X" "150908168" "150908168" "subst" "0.00565703" "02327" "CNGA2_000016" "g.150908168G>T" "" "" "" "CNGA2(NM_005140.1):c.338G>T (p.(Gly113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984512" "0" "70" "X" "150912415" "150912415" "subst" "0" "01804" "CNGA2_000042" "g.150912415C>A" "" "" "" "CNGA2(NM_005140.1):c.1440C>A (p.(Tyr480Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044161" "0" "50" "X" "150912215" "150912215" "subst" "0" "01804" "CNGA2_000043" "g.150912215G>T" "" "" "" "CNGA2(NM_005140.1):c.1240G>T (p.(Asp414Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044162" "0" "50" "X" "150912296" "150912296" "subst" "0" "01804" "CNGA2_000044" "g.150912296G>A" "" "" "" "CNGA2(NM_005140.1):c.1321G>A (p.(Ala441Thr))" "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 CNGA2 ## Count = 36 "{{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}}" "0000003301" "00000445" "50" "590" "-151" "590" "-150" "c.590-151_590-150insCG" "r.(=)" "p.(=)" "" "0000007876" "00000445" "50" "530" "0" "530" "0" "c.530T>G" "r.(?)" "p.(Val177Gly)" "" "0000007877" "00000445" "50" "590" "-52" "590" "-52" "c.590-52T>C" "r.(=)" "p.(=)" "" "0000067262" "00000445" "30" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274His)" "7" "0000253637" "00000445" "10" "44" "0" "44" "0" "c.44A>C" "r.(?)" "p.(Asn15Thr)" "" "0000256089" "00000445" "50" "1477" "0" "1477" "0" "c.1477A>G" "r.(?)" "p.(Ile493Val)" "" "0000273645" "00000445" "50" "1236" "0" "1236" "0" "c.1236G>T" "r.(?)" "p.(Trp412Cys)" "" "0000273646" "00000445" "50" "1874" "0" "1874" "0" "c.1874C>G" "r.(?)" "p.(Ala625Gly)" "" "0000273647" "00000445" "30" "589" "3" "589" "3" "c.589+3C>T" "r.spl?" "p.?" "" "0000273648" "00000445" "50" "61" "0" "61" "0" "c.61C>A" "r.(?)" "p.(Pro21Thr)" "" "0000273649" "00000445" "50" "831" "0" "831" "0" "c.831C>A" "r.(?)" "p.(Asn277Lys)" "" "0000335907" "00000445" "50" "44" "0" "44" "0" "c.44A>C" "r.(?)" "p.(Asn15Thr)" "" "0000335908" "00000445" "30" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Gly113Val)" "" "0000335911" "00000445" "50" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274His)" "" "0000335912" "00000445" "30" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Val361Ile)" "" "0000393322" "00000445" "50" "1081" "0" "1081" "0" "c.1081G>A" "r.(?)" "p.(Val361Ile)" "" "0000393323" "00000445" "30" "1527" "0" "1527" "0" "c.1527G>A" "r.(=)" "p.(=)" "" "0000393324" "00000445" "50" "1987" "0" "1987" "0" "c.1987G>A" "r.(?)" "p.(Glu663Lys)" "" "0000393325" "00000445" "50" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Gly113Val)" "" "0000393326" "00000445" "50" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Trp139Leu)" "" "0000393327" "00000445" "30" "582" "0" "582" "0" "c.582G>A" "r.(=)" "p.(=)" "" "0000393328" "00000445" "50" "634" "0" "634" "0" "c.634C>G" "r.(?)" "p.(Arg212Gly)" "" "0000393329" "00000445" "30" "840" "0" "840" "0" "c.840C>T" "r.(=)" "p.(=)" "" "0000393330" "00000445" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Asp305Asn)" "" "0000574157" "00000445" "50" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Arg249His)" "" "0000574160" "00000445" "50" "1849" "0" "1849" "0" "c.1849C>A" "r.(?)" "p.(Arg617Ser)" "" "0000619133" "00000445" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Arg575=)" "" "0000682182" "00000445" "30" "194" "0" "194" "0" "c.194G>T" "r.(?)" "p.(Gly65Val)" "" "0000682183" "00000445" "30" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Arg99His)" "" "0000682184" "00000445" "30" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Val151Ile)" "" "0000682185" "00000445" "50" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Ile338Thr)" "" "0000867139" "00000445" "50" "394" "0" "394" "0" "c.394G>T" "r.(?)" "p.(Val132Phe)" "" "0000970831" "00000445" "10" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Gly113Val)" "" "0000984512" "00000445" "70" "1440" "0" "1440" "0" "c.1440C>A" "r.(?)" "p.(Tyr480*)" "" "0001044161" "00000445" "50" "1240" "0" "1240" "0" "c.1240G>T" "r.(?)" "p.(Asp414Tyr)" "" "0001044162" "00000445" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Ala441Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003301" "0000000209" "0000007876" "0000000209" "0000007877" "0000039642" "0000067262" "0000173465" "0000393322" "0000173466" "0000393323" "0000173467" "0000393324" "0000173468" "0000393325" "0000173469" "0000393326" "0000173470" "0000393327" "0000173471" "0000393328" "0000173472" "0000393329" "0000173473" "0000393330"