### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEACAM16) # 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}}" "CEACAM16" "carcinoembryonic antigen-related cell adhesion molecule 16" "19" "q13.31" "unknown" "NG_032692.2" "UD_136085676025" "" "https://www.LOVD.nl/CEACAM16" "Deafness Variation Database \r\nMoBiDiC " "1" "31948" "388551" "614591" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CEACAM16 database using: www.LOVD.nl/CEACAM16 If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CEACAM16_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00110" "2018-07-20 14:20:30" "00000" "2024-08-28 13:16:32" ## 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}}" "00004918" "CEACAM16" "carcinoembryonic antigen-related cell adhesion molecule 16" "001" "NM_001039213.2" "" "NP_001034302.2" "" "" "" "-206" "1486" "1278" "45202421" "45213986" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "03687" "DFNA4B" "deafness, autosomal dominant, type 4b (DFNA-4B)" "AD" "614614" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "05458" "DFN" "deafness, nonsyndromic (DFN)" "" "" "" "" "" "00006" "2018-07-12 10:48:26" "" "" "06441" "DFNB113" "Deafness, autosomal recessive 113" "AR" "618410" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CEACAM16" "00350" "CEACAM16" "03687" "CEACAM16" "05458" "CEACAM16" "06441" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00059052" "" "" "" "1" "" "01542" "" "" "" "yes" "Israel" "" "0" "" "" "Iran;Jewish" "" "00059053" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Iran;Jewish" "" "00080145" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "" "" "" "" "" "00163025" "" "" "" "1" "" "02404" "{PMID:Hofrichter 2015:26648831}, {DOI:Hofrichter 2015:10.1159/000439576}" "Proband" "M" "" "Germany" "" "0" "" "" "" "26648831-Pat1" "00170819" "" "" "" "5" "" "00006" "{PMID:Booth 2018:29703829}, {DOI:Booth 2018:10.1136/jmedgenet-2018-105349}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Iran" "" "0" "" "" "" "29703829-FamL8900076Pats" "00292148" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292149" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00059052" "00531" "00059053" "00531" "00080145" "05103" "00163025" "00350" "00170819" "05400" "00292148" "00198" "00292149" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 03687, 05103, 05400, 05458, 06441 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000045642" "00531" "00059052" "01542" "Familial, autosomal recessive" "" "teenage onset, mild to moderate NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000045643" "00531" "00059053" "01542" "Familial, autosomal recessive" "" "mild to moderate NSHL, teenage onset" "" "" "" "" "" "" "" "" "" "" "" "0000128162" "00350" "00163025" "02404" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "DFNA-4B" "Non-syndromic Deafness (DFN)" "" "0000135679" "05400" "00170819" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive mild-to-moderate ARSNHL, postlingual, starting in the second decade; physical examination unremarkable" "" "" "" "" "" "" "" "" "" "autosomal recessive non syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059018" "00059052" "1" "01542" "01542" "2016-02-19 03:22:27" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059019" "00059053" "1" "01542" "01542" "2016-02-19 03:31:48" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000080239" "00080145" "1" "01740" "01740" "2016-09-02 09:31:24" "" "" "SEQ-NG" "DNA" "" "" "0000163890" "00163025" "1" "02404" "02404" "2015-10-04 16:26:06" "00006" "2019-06-07 08:25:20" "SEQ" "DNA" "" "" "0000171692" "00170819" "1" "00006" "00006" "2018-07-23 13:36:14" "" "" "SEQ" "DNA" "" "" "0000293316" "00292148" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293317" "00292149" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000163890" "CEACAM16" "0000171692" "CEACAM16" ## 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 = 46 "{{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}}" "0000089818" "3" "90" "19" "45208901" "45208901" "subst" "0.000142989" "01542" "CEACAM16_000013" "g.45208901C>T" "1/119 patients het" "" "" "" "0/231 controls" "Germline" "yes" "" "0" "" "" "g.44705631C>T" "" "pathogenic" "" "0000089819" "3" "90" "19" "45208901" "45208901" "subst" "0.000142989" "01542" "CEACAM16_000013" "g.45208901C>T" "1/119 patients het" "" "" "" "0/231 controls" "Germline" "yes" "" "0" "" "" "g.44705631C>T" "" "pathogenic" "" "0000129193" "0" "50" "19" "45209057" "45209057" "del" "0" "01740" "CEACAM16_000002" "g.45209057del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "g.44705787del" "" "VUS" "" "0000256315" "0" "50" "19" "45209045" "45209045" "subst" "0" "01943" "CEACAM16_000007" "g.45209045A>G" "" "" "" "CEACAM16(NM_001039213.4):c.847A>G (p.M283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44705775A>G" "" "VUS" "" "0000273079" "0" "30" "19" "45211317" "45211317" "subst" "0.000466668" "01943" "CEACAM16_000008" "g.45211317G>A" "" "" "" "CEACAM16(NM_001039213.4):c.1125G>A (p.A375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44708045G>A" "" "likely benign" "" "0000273080" "0" "30" "19" "45206933" "45206933" "subst" "0.00325904" "01943" "CEACAM16_000005" "g.45206933G>A" "" "" "" "CEACAM16(NM_001039213.4):c.352G>A (p.E118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44703663G>A" "" "likely benign" "" "0000273081" "0" "10" "19" "45206632" "45206632" "subst" "0.00551528" "01943" "CEACAM16_000004" "g.45206632T>C" "" "" "" "CEACAM16(NM_001039213.4):c.51T>C (p.N17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44703362T>C" "" "benign" "" "0000273082" "0" "30" "19" "45204731" "45204731" "subst" "0" "01943" "CEACAM16_000003" "g.45204731C>T" "" "" "" "CEACAM16(NM_001039213.4):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44701461C>T" "" "likely benign" "" "0000273083" "0" "30" "19" "45208936" "45208936" "subst" "0.00351094" "01943" "CEACAM16_000006" "g.45208936G>A" "" "" "" "CEACAM16(NM_001039213.4):c.738G>A (p.T246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44705666G>A" "" "likely benign" "" "0000342168" "0" "30" "19" "45207482" "45207482" "subst" "3.97999E-5" "02327" "CEACAM16_000010" "g.45207482C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44704212C>T" "" "likely benign" "" "0000342356" "0" "50" "19" "45208901" "45208901" "subst" "0.000142989" "02327" "CEACAM16_000013" "g.45208901C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44705631C>T" "" "VUS" "" "0000343738" "0" "50" "19" "45211346" "45211346" "subst" "3.71186E-5" "02327" "CEACAM16_000011" "g.45211346A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44708074A>G" "" "VUS" "" "0000344732" "0" "70" "19" "45209057" "45209057" "del" "0" "02327" "CEACAM16_000002" "g.45209057del" "" "" "" "CEACAM16(NM_001039213.4):c.859delC (p.Q287Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44705787del" "" "likely pathogenic" "" "0000347142" "0" "50" "19" "45206697" "45206697" "subst" "6.5093E-5" "02327" "CEACAM16_000009" "g.45206697T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44703427T>A" "" "VUS" "" "0000366932" "1" "99" "19" "45211286" "45211286" "subst" "0" "02404" "CEACAM16_000001" "g.45211286T>G" "" "{PMID:Hofrichter 2015:26648831}, {DOI:Hofrichter 2015:10.1159/000439576}" "" "" "{MSV3dQ2WEN9:p.Leu365Arg}" "De novo" "" "" "0" "" "" "g.44708014T>G" "" "pathogenic" "" "0000391981" "3" "90" "19" "45208859" "45208859" "subst" "0" "00006" "CEACAM16_000014" "g.45208859G>C" "" "{PMID:Booth 2018:29703829}, {DOI:Booth 2018:10.1136/jmedgenet-2018-105349}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44705589G>C" "" "pathogenic (recessive)" "" "0000391982" "0" "90" "19" "45208859" "45208859" "subst" "0" "00006" "CEACAM16_000014" "g.45208859G>C" "" "{PMID:Booth 2018:29703829}, {DOI:Booth 2018:10.1136/jmedgenet-2018-105349}" "" "" "in vitro splicing minigene assay expressed in COS7 and HEK293 cells" "In vitro (cloned)" "-" "" "0" "" "" "g.44705589G>C" "" "NA" "" "0000567614" "0" "30" "19" "45204770" "45204770" "subst" "0.000185932" "01943" "CEACAM16_000015" "g.45204770G>A" "" "" "" "CEACAM16(NM_001039213.4):c.37+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44701500G>A" "" "likely benign" "" "0000567615" "0" "30" "19" "45206676" "45206676" "subst" "0.00195631" "01943" "CEACAM16_000016" "g.45206676G>T" "" "" "" "CEACAM16(NM_001039213.4):c.95G>T (p.S32I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44703406G>T" "" "likely benign" "" "0000567616" "0" "30" "19" "45206677" "45206677" "subst" "0.00196858" "01943" "CEACAM16_000017" "g.45206677C>T" "" "" "" "CEACAM16(NM_001039213.4):c.96C>T (p.S32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44703407C>T" "" "likely benign" "" "0000567617" "0" "30" "19" "45206917" "45206917" "subst" "0" "01943" "CEACAM16_000018" "g.45206917C>T" "" "" "" "CEACAM16(NM_001039213.4):c.336C>T (p.N112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44703647C>T" "" "likely benign" "" "0000567618" "0" "30" "19" "45207413" "45207413" "subst" "0.00177841" "01943" "CEACAM16_000019" "g.45207413G>A" "" "" "" "CEACAM16(NM_001039213.4):c.508G>A (p.A170T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44704143G>A" "" "likely benign" "" "0000567619" "0" "50" "19" "45207453" "45207453" "subst" "0" "01943" "CEACAM16_000020" "g.45207453G>T" "" "" "" "CEACAM16(NM_001039213.4):c.548G>T (p.G183V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44704183G>T" "" "VUS" "" "0000567620" "0" "50" "19" "45207536" "45207536" "subst" "6.62964E-5" "02327" "CEACAM16_000021" "g.45207536C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44704266C>T" "" "VUS" "" "0000567621" "0" "30" "19" "45211237" "45211237" "subst" "0" "01943" "CEACAM16_000022" "g.45211237G>T" "" "" "" "CEACAM16(NM_001039213.4):c.1045G>T (p.A349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44707965G>T" "" "likely benign" "" "0000567622" "0" "50" "19" "45211328" "45211328" "subst" "3.30066E-5" "02327" "CEACAM16_000023" "g.45211328G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44708056G>A" "" "VUS" "" "0000617672" "0" "30" "19" "45209083" "45209083" "subst" "0.000471898" "01943" "CEACAM16_000024" "g.45209083G>A" "" "" "" "CEACAM16(NM_001039213.4):c.885G>A (p.A295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44705813G>A" "" "likely benign" "" "0000650005" "1" "30" "19" "45206933" "45206933" "subst" "0.00325904" "03575" "CEACAM16_000005" "g.45206933G>A" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs183860695}" "Germline" "" "rs183860695" "0" "" "" "g.44703663G>A" "" "likely benign" "" "0000650006" "1" "10" "19" "45207444" "45207444" "subst" "0.000993272" "03575" "CEACAM16_000025" "g.45207444C>T" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs59028589}" "Germline" "" "rs59028589" "0" "" "" "g.44704174C>T" "" "benign" "" "0000658596" "0" "30" "19" "45206950" "45206950" "subst" "0" "01943" "CEACAM16_000026" "g.45206950C>T" "" "" "" "CEACAM16(NM_001039213.4):c.369C>T (p.H123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44703680C>T" "" "likely benign" "" "0000658597" "0" "50" "19" "45208871" "45208871" "subst" "0" "02327" "CEACAM16_000027" "g.45208871C>T" "" "" "" "CEACAM16(NM_001039213.4):c.673C>T (p.R225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44705601C>T" "" "VUS" "" "0000727414" "0" "50" "19" "45207456" "45207456" "subst" "8.19346E-5" "02327" "CEACAM16_000028" "g.45207456G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727415" "0" "30" "19" "45209053" "45209053" "subst" "0.000129959" "01943" "CEACAM16_000029" "g.45209053C>T" "" "" "" "CEACAM16(NM_001039213.4):c.855C>T (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808915" "0" "30" "19" "45211248" "45211248" "subst" "0.000196164" "01943" "CEACAM16_000030" "g.45211248C>T" "" "" "" "CEACAM16(NM_001039213.4):c.1056C>T (p.R352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855609" "0" "90" "19" "45209057" "45209057" "del" "0" "01943" "CEACAM16_000002" "g.45209057del" "" "" "" "CEACAM16(NM_001039213.4):c.859delC (p.Q287Rfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866158" "0" "30" "19" "45207283" "45207283" "subst" "0.000163117" "01943" "CEACAM16_000031" "g.45207283C>A" "" "" "" "CEACAM16(NM_001039213.4):c.383-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866159" "0" "50" "19" "45208871" "45208871" "subst" "0" "01943" "CEACAM16_000027" "g.45208871C>T" "" "" "" "CEACAM16(NM_001039213.4):c.673C>T (p.R225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895027" "0" "50" "19" "45206778" "45206778" "subst" "7.3437E-5" "02327" "CEACAM16_000032" "g.45206778C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895028" "0" "50" "19" "45206843" "45206843" "subst" "0" "02327" "CEACAM16_000033" "g.45206843C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895029" "0" "50" "19" "45207324" "45207324" "subst" "0" "02327" "CEACAM16_000034" "g.45207324C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895030" "0" "50" "19" "45207392" "45207392" "subst" "2.31086E-5" "02327" "CEACAM16_000035" "g.45207392C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895031" "0" "50" "19" "45209000" "45209000" "subst" "2.03072E-5" "02327" "CEACAM16_000036" "g.45209000G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895032" "0" "50" "19" "45211204" "45211204" "subst" "0.000403656" "02327" "CEACAM16_000037" "g.45211204G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983520" "0" "50" "19" "45207494" "45207494" "subst" "0.00010234" "02327" "CEACAM16_000038" "g.45207494G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004858" "0" "50" "19" "45206751" "45206751" "subst" "0" "01804" "CEACAM16_000039" "g.45206751C>T" "" "" "" "CEACAM16(NM_001039213.2):c.170C>T (p.(Pro57Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004859" "0" "30" "19" "45207404" "45207404" "subst" "0" "01804" "CEACAM16_000040" "g.45207404A>G" "" "" "" "CEACAM16(NM_001039213.2):c.499A>G (p.(Asn167Asp))" "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 CEACAM16 ## Count = 46 "{{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}}" "0000089818" "00004918" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Cys)" "5" "0000089819" "00004918" "90" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Cys)" "5" "0000129193" "00004918" "50" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Gln287Argfs*34)" "" "0000256315" "00004918" "50" "847" "0" "847" "0" "c.847A>G" "r.(?)" "p.(Met283Val)" "" "0000273079" "00004918" "30" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Ala375=)" "" "0000273080" "00004918" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Glu118Lys)" "" "0000273081" "00004918" "10" "51" "0" "51" "0" "c.51T>C" "r.(?)" "p.(Asn17=)" "" "0000273082" "00004918" "30" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "" "0000273083" "00004918" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Thr246=)" "" "0000342168" "00004918" "30" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "" "0000342356" "00004918" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Cys)" "" "0000343738" "00004918" "50" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Asn385Ser)" "" "0000344732" "00004918" "70" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Gln287ArgfsTer34)" "" "0000347142" "00004918" "50" "116" "0" "116" "0" "c.116T>A" "r.(?)" "p.(Leu39Gln)" "" "0000366932" "00004918" "99" "1094" "0" "1094" "0" "c.1094T>G" "r.(?)" "p.(Leu365Arg)" "6" "0000391981" "00004918" "90" "662" "-1" "662" "-1" "c.662-1G>C" "r.[(662_764del,622_940del)]" "p.[(Phe221Cysfs*16,Phe221_Ala313delinsSer)]" "4i" "0000391982" "00004918" "90" "662" "-1" "662" "-1" "c.662-1G>C" "r.[662_764del,622_940del]" "p.[Phe221Cysfs*16,Phe221_Ala313delinsSer]" "4i" "0000567614" "00004918" "30" "37" "7" "37" "7" "c.37+7G>A" "r.(=)" "p.(=)" "" "0000567615" "00004918" "30" "95" "0" "95" "0" "c.95G>T" "r.(?)" "p.(Ser32Ile)" "" "0000567616" "00004918" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Ser32=)" "" "0000567617" "00004918" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Asn112=)" "" "0000567618" "00004918" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Ala170Thr)" "" "0000567619" "00004918" "50" "548" "0" "548" "0" "c.548G>T" "r.(?)" "p.(Gly183Val)" "" "0000567620" "00004918" "50" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000567621" "00004918" "30" "1045" "0" "1045" "0" "c.1045G>T" "r.(?)" "p.(Ala349Ser)" "" "0000567622" "00004918" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Arg379Gln)" "" "0000617672" "00004918" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Ala295=)" "" "0000650005" "00004918" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Glu118Lys)" "" "0000650006" "00004918" "10" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Ser180Phe)" "" "0000658596" "00004918" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(His123=)" "" "0000658597" "00004918" "50" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Cys)" "" "0000727414" "00004918" "50" "551" "0" "551" "0" "c.551G>A" "r.(?)" "p.(Arg184Gln)" "" "0000727415" "00004918" "30" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Ala285=)" "" "0000808915" "00004918" "30" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Arg352=)" "" "0000855609" "00004918" "90" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Gln287ArgfsTer34)" "" "0000866158" "00004918" "30" "383" "-5" "383" "-5" "c.383-5C>A" "r.spl?" "p.?" "" "0000866159" "00004918" "50" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Cys)" "" "0000895027" "00004918" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Ala66Val)" "" "0000895028" "00004918" "50" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Cys)" "" "0000895029" "00004918" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Thr140Ile)" "" "0000895030" "00004918" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000895031" "00004918" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Gly268Arg)" "" "0000895032" "00004918" "50" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Val338Leu)" "" "0000983520" "00004918" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Ser)" "" "0001004858" "00004918" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Pro57Leu)" "" "0001004859" "00004918" "30" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Asn167Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000059018" "0000089818" "0000059019" "0000089819" "0000080239" "0000129193" "0000163890" "0000366932" "0000171692" "0000391981" "0000293316" "0000650005" "0000293317" "0000650006"