### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCBE1) # 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}}" "CCBE1" "collagen and calcium binding EGF domains 1" "18" "q21.32" "unknown" "NG_016990.1" "UD_132118986691" "" "https://www.LOVD.nl/CCBE1" "" "1" "29426" "147372" "612753" "1" "1" "1" "1" " This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CCBE1_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00008" "2010-03-02 00:00:00" "00006" "2018-05-11 17:25:10" "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}}" "00000232" "CCBE1" "collagen and calcium binding EGF domains 1" "001" "NM_133459.3" "" "NP_597716.1" "" "" "" "-70" "6190" "1221" "57364644" "57098171" "00008" "2012-06-25 10:54:25" "" "" ## 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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01015" "HKLLS1" "Hennekam lymphangiectasia-lymphedema syndrome, type 1" "AR" "235510" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-10 16:07:28" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CCBE1" "00139" "CCBE1" "01015" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00163855" "" "" "" "3" "" "01764" "{PMID:Alders 2009:1993566]}" "family, 3-affecteds" "" "yes" "Netherlands" "" "0" "" "" "" "LE-96" "00163856" "" "" "" "1" "" "01764" "{PMID:Alders 2009:1993566]}" "" "" "no" "Norway" "" "0" "" "" "" "LE-423" "00291990" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334393" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334405" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334485" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334541" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335026" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00163855" "01015" "00163856" "01015" "00291990" "00198" "00334393" "05793" "00334405" "05793" "00334485" "05793" "00334541" "05793" "00335026" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01015, 05793 ## Count = 8 "{{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}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000128967" "01015" "00163855" "01764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HKLLS-1" "lymphoedema" "" "0000128968" "01015" "00163856" "01764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HKLLS-1" "lymphoedema" "" "0000253176" "05793" "00334393" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253188" "05793" "00334405" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253198" "05793" "00334485" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253231" "05793" "00334541" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253308" "05793" "00335026" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000164719" "00163855" "1" "01764" "01764" "2013-05-14 15:28:24" "" "" "SEQ" "DNA" "" "" "0000164720" "00163856" "1" "01764" "01764" "2013-05-14 15:32:00" "" "" "SEQ" "DNA" "" "" "0000293158" "00291990" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335622" "00334393" "1" "04011" "04011" "2021-02-28 12:02:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335634" "00334405" "1" "04011" "04011" "2021-02-28 14:06:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335714" "00334485" "1" "04011" "04011" "2021-03-01 04:52:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335770" "00334541" "1" "04011" "04011" "2021-03-01 13:50:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336255" "00335026" "1" "04011" "04011" "2021-03-03 03:58:18" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000164719" "CCBE1" "0000164720" "CCBE1" ## 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 = 84 "{{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}}" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000247539" "0" "90" "18" "57134004" "57134004" "subst" "2.03255E-5" "02330" "CCBE1_000018" "g.57134004A>G" "" "" "" "CCBE1(NM_133459.4):c.520T>C (p.C174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59466772A>G" "" "pathogenic" "" "0000264362" "0" "10" "18" "57103126" "57103126" "subst" "0.0100845" "02330" "CCBE1_000024" "g.57103126G>A" "" "" "" "CCBE1(NM_133459.4):c.*14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59435894G>A" "" "benign" "" "0000264363" "0" "90" "18" "57103290" "57103290" "del" "0" "02330" "CCBE1_000004" "g.57103290del" "" "" "" "CCBE1(NM_133459.4):c.1071delC (p.F357Lfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59436058del" "" "pathogenic" "" "0000264364" "0" "10" "18" "57147410" "57147410" "subst" "0.000408517" "02330" "CCBE1_000020" "g.57147410T>G" "" "" "" "CCBE1(NM_133459.4):c.265+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59480178T>G" "" "benign" "" "0000264365" "0" "30" "18" "57134005" "57134005" "subst" "0.000321128" "02330" "CCBE1_000019" "g.57134005T>C" "" "" "" "CCBE1(NM_133459.4):c.519A>G (p.T173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59466773T>C" "" "likely benign" "" "0000264367" "0" "90" "18" "57115230" "57115255" "del" "0" "02330" "CCBE1_000012" "g.57115230_57115255del" "" "" "" "CCBE1(NM_133459.4):c.735_760delTCCAGGACCTCCTGGCCTGCCTGGGG (p.P249Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59447998_59448023del" "" "pathogenic" "" "0000264368" "0" "10" "18" "57115203" "57115203" "subst" "0.526021" "02330" "CCBE1_000011" "g.57115203T>C" "" "" "" "CCBE1(NM_133459.4):c.775+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59447971T>C" "" "benign" "" "0000264369" "0" "70" "18" "57107021" "57107021" "subst" "0" "02330" "CCBE1_000009" "g.57107021C>G" "" "" "" "CCBE1(NM_133459.4):c.803G>C (p.G268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59439789C>G" "" "likely pathogenic" "" "0000264370" "0" "10" "18" "57106987" "57106987" "subst" "0.0120153" "02330" "CCBE1_000008" "g.57106987G>A" "" "" "" "CCBE1(NM_133459.4):c.837C>T (p.P279=, p.(Pro279=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59439755G>A" "" "benign" "" "0000264371" "0" "50" "18" "57106955" "57106955" "subst" "0.000585123" "02330" "CCBE1_000007" "g.57106955G>A" "" "" "" "CCBE1(NM_133459.4):c.869C>T (p.P290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59439723G>A" "" "VUS" "" "0000264372" "0" "10" "18" "57103383" "57103383" "subst" "0.00568496" "02330" "CCBE1_000005" "g.57103383T>C" "" "" "" "CCBE1(NM_133459.4):c.988-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59436151T>C" "" "benign" "" "0000266519" "0" "30" "18" "57363878" "57363878" "subst" "0.00472392" "02325" "CCBE1_000021" "g.57363878C>T" "" "" "" "CCBE1(NM_133459.3):c.195G>A (p.(Glu65=)), CCBE1(NM_133459.4):c.195G>A (p.E65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59696646C>T" "" "likely benign" "" "0000266520" "0" "10" "18" "57115203" "57115203" "subst" "0.526021" "02325" "CCBE1_000011" "g.57115203T>C" "" "" "" "CCBE1(NM_133459.4):c.775+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59447971T>C" "" "benign" "" "0000268053" "0" "50" "18" "57364459" "57364459" "subst" "2.11449E-5" "02329" "CCBE1_000022" "g.57364459G>A" "" "" "" "CCBE1(NM_133459.4):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59697227G>A" "" "VUS" "" "0000269841" "0" "30" "18" "57115199" "57115199" "subst" "0" "02326" "CCBE1_000010" "g.57115199C>T" "" "" "" "CCBE1(NM_133459.4):c.775+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59447967C>T" "" "likely benign" "" "0000272738" "0" "50" "18" "57103282" "57103282" "subst" "0.000150246" "01943" "CCBE1_000026" "g.57103282C>T" "" "" "" "CCBE1(NM_133459.4):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59436050C>T" "" "VUS" "" "0000272739" "0" "50" "18" "57106922" "57106922" "subst" "0.000203102" "01943" "CCBE1_000006" "g.57106922C>T" "" "" "" "CCBE1(NM_133459.4):c.902G>A (p.R301Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59439690C>T" "" "VUS" "" "0000325927" "0" "90" "18" "57115306" "57115307" "ins" "5.28296E-5" "01804" "CCBE1_000014" "g.57115306_57115307insA" "" "" "" "CCBE1(NM_133459.3):c.683_684insT (p.(Leu229fs)), CCBE1(NM_133459.4):c.683_684insT (p.L229Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59448074_59448075insA" "" "pathogenic" "" "0000325930" "0" "30" "18" "57122151" "57122151" "subst" "8.53728E-5" "01804" "CCBE1_000017" "g.57122151C>T" "" "" "" "CCBE1(NM_133459.3):c.586G>A (p.(Gly196Arg)), CCBE1(NM_133459.4):c.586G>A (p.G196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.59454919C>T" "" "likely benign" "" "0000368278" "3" "97" "18" "57147460" "57147460" "subst" "3.66925E-5" "01764" "CCBE1_000001" "g.57147460A>T" "" "{PMID:Alders 2009:1993566]}" "" "" "" "De novo" "" "" "0" "" "" "g.59480228A>T" "" "pathogenic" "" "0000368279" "1" "97" "18" "57134004" "57134004" "subst" "2.03255E-5" "01764" "CCBE1_000002" "g.57134004A>G" "" "{PMID:Alders 2009:1993566]}" "" "" "" "Germline" "" "" "0" "" "" "g.59466772A>G" "" "pathogenic" "" "0000368280" "2" "97" "18" "86601624" "86601624" "dup" "0" "01764" "CCBE1_000003" "g.86601624dup" "" "{PMID:Alders 2009:1993566]}" "" "" "(IF) Variant is in error: genomic position is not possible, protein change doesn\'t match variant, PubMed reference is most likely 19935664, but publication doesn\'t mention variant c.683dup." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000565166" "0" "30" "18" "57103181" "57103181" "subst" "0" "01943" "CCBE1_000027" "g.57103181C>T" "" "" "" "CCBE1(NM_133459.4):c.1180G>A (p.E394K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59435949C>T" "" "likely benign" "" "0000565168" "0" "30" "18" "57103297" "57103297" "subst" "0.00121414" "02326" "CCBE1_000028" "g.57103297T>G" "" "" "" "CCBE1(NM_133459.4):c.1064A>C (p.K355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59436065T>G" "" "likely benign" "" "0000565169" "0" "50" "18" "57106797" "57106797" "subst" "2.43655E-5" "01943" "CCBE1_000029" "g.57106797G>A" "" "" "" "CCBE1(NM_133459.4):c.929C>T (p.A310V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59439565G>A" "" "VUS" "" "0000565170" "0" "30" "18" "57106930" "57106930" "subst" "4.0619E-6" "01943" "CCBE1_000030" "g.57106930C>T" "" "" "" "CCBE1(NM_133459.4):c.894G>A (p.K298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59439698C>T" "" "likely benign" "" "0000565172" "0" "50" "18" "57115250" "57115250" "subst" "1.21904E-5" "01804" "CCBE1_000032" "g.57115250C>G" "" "" "" "CCBE1(NM_133459.3):c.740G>C (p.(Gly247Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59448018C>G" "" "VUS" "" "0000565173" "0" "90" "18" "57115306" "57115307" "ins" "5.28296E-5" "02330" "CCBE1_000014" "g.57115306_57115307insA" "" "" "" "CCBE1(NM_133459.3):c.683_684insT (p.(Leu229fs)), CCBE1(NM_133459.4):c.683_684insT (p.L229Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59448074_59448075insA" "" "pathogenic" "" "0000565175" "0" "90" "18" "57122133" "57122133" "dup" "0" "02329" "CCBE1_000034" "g.57122133dup" "" "" "" "CCBE1(NM_133459.4):c.604dupT (p.C202Lfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59454901dup" "" "pathogenic" "" "0000565177" "0" "50" "18" "57122151" "57122151" "subst" "8.53728E-5" "01943" "CCBE1_000017" "g.57122151C>T" "" "" "" "CCBE1(NM_133459.3):c.586G>A (p.(Gly196Arg)), CCBE1(NM_133459.4):c.586G>A (p.G196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59454919C>T" "" "VUS" "" "0000565178" "0" "30" "18" "57122180" "57122180" "subst" "0.000927214" "01943" "CCBE1_000036" "g.57122180T>C" "" "" "" "CCBE1(NM_133459.4):c.557A>G (p.H186R, p.(His186Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59454948T>C" "" "likely benign" "" "0000565179" "0" "30" "18" "57122192" "57122192" "subst" "4.06884E-6" "01943" "CCBE1_000037" "g.57122192G>A" "" "" "" "CCBE1(NM_133459.4):c.554-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59454960G>A" "" "likely benign" "" "0000565180" "0" "70" "18" "57134052" "57134052" "subst" "0.000211418" "02330" "CCBE1_000038" "g.57134052G>A" "" "" "" "CCBE1(NM_133459.4):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466820G>A" "" "likely pathogenic" "" "0000565181" "0" "70" "18" "57134052" "57134052" "subst" "0.000211418" "02325" "CCBE1_000038" "g.57134052G>A" "" "" "" "CCBE1(NM_133459.4):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466820G>A" "" "likely pathogenic" "" "0000565182" "0" "90" "18" "57134052" "57134052" "subst" "0.000211418" "02329" "CCBE1_000038" "g.57134052G>A" "" "" "" "CCBE1(NM_133459.4):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466820G>A" "" "pathogenic" "" "0000565183" "0" "50" "18" "57134066" "57134066" "subst" "1.21967E-5" "02327" "CCBE1_000039" "g.57134066G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466834G>A" "" "VUS" "" "0000565184" "0" "50" "18" "57134093" "57134093" "subst" "0.00037" "01943" "CCBE1_000040" "g.57134093G>A" "" "" "" "CCBE1(NM_133459.4):c.431C>T (p.T144M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466861G>A" "" "VUS" "" "0000565185" "0" "50" "18" "57136725" "57136725" "subst" "0.000437099" "02325" "CCBE1_000041" "g.57136725C>T" "" "" "" "CCBE1(NM_133459.4):c.380G>A (p.R127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59469493C>T" "" "VUS" "" "0000565186" "0" "50" "18" "57136726" "57136726" "subst" "0.000179789" "01943" "CCBE1_000042" "g.57136726G>A" "" "" "" "CCBE1(NM_133459.4):c.379C>T (p.R127W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59469494G>A" "" "VUS" "" "0000565187" "0" "50" "18" "57136827" "57136827" "subst" "0" "01943" "CCBE1_000043" "g.57136827C>A" "" "" "" "CCBE1(NM_133459.4):c.278G>T (p.C93F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59469595C>A" "" "VUS" "" "0000565188" "0" "50" "18" "57147453" "57147453" "subst" "0" "01943" "CCBE1_000044" "g.57147453C>T" "" "" "" "CCBE1(NM_133459.4):c.230G>A (p.G77E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59480221C>T" "" "VUS" "" "0000565189" "0" "30" "18" "57363878" "57363878" "subst" "0.00472392" "02330" "CCBE1_000021" "g.57363878C>T" "" "" "" "CCBE1(NM_133459.3):c.195G>A (p.(Glu65=)), CCBE1(NM_133459.4):c.195G>A (p.E65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59696646C>T" "" "likely benign" "" "0000565190" "0" "10" "18" "57364452" "57364452" "subst" "0.00363952" "02330" "CCBE1_000045" "g.57364452G>T" "" "" "" "CCBE1(NM_133459.4):c.123C>A (p.D41E, p.(Asp41Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59697220G>T" "" "benign" "" "0000565191" "0" "30" "18" "57364474" "57364474" "subst" "0.0004925" "01943" "CCBE1_000046" "g.57364474G>T" "" "" "" "CCBE1(NM_133459.3):c.101C>A (p.(Thr34Asn)), CCBE1(NM_133459.4):c.101C>A (p.T34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59697242G>T" "" "likely benign" "" "0000565192" "0" "30" "18" "57364474" "57364474" "subst" "0.0004925" "01804" "CCBE1_000046" "g.57364474G>T" "" "" "" "CCBE1(NM_133459.3):c.101C>A (p.(Thr34Asn)), CCBE1(NM_133459.4):c.101C>A (p.T34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59697242G>T" "" "likely benign" "" "0000565193" "0" "50" "18" "57364510" "57364510" "subst" "0" "02325" "CCBE1_000047" "g.57364510G>A" "" "" "" "CCBE1(NM_133459.4):c.65C>T (p.P22L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59697278G>A" "" "VUS" "" "0000617222" "0" "50" "18" "57103297" "57103297" "subst" "0.00121414" "01943" "CCBE1_000028" "g.57103297T>G" "" "" "" "CCBE1(NM_133459.4):c.1064A>C (p.K355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59436065T>G" "" "VUS" "" "0000617223" "0" "70" "18" "57106986" "57106986" "subst" "1.21962E-5" "02327" "CCBE1_000048" "g.57106986C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59439754C>T" "" "likely pathogenic" "" "0000617224" "0" "90" "18" "57115306" "57115307" "ins" "5.28296E-5" "02327" "CCBE1_000014" "g.57115306_57115307insA" "" "" "" "CCBE1(NM_133459.3):c.683_684insT (p.(Leu229fs)), CCBE1(NM_133459.4):c.683_684insT (p.L229Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59448074_59448075insA" "" "pathogenic" "" "0000623874" "0" "30" "18" "57134005" "57134005" "subst" "0.000321128" "01943" "CCBE1_000019" "g.57134005T>C" "" "" "" "CCBE1(NM_133459.4):c.519A>G (p.T173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59466773T>C" "" "likely benign" "" "0000623875" "0" "30" "18" "57147410" "57147410" "subst" "0.000408517" "01943" "CCBE1_000020" "g.57147410T>G" "" "" "" "CCBE1(NM_133459.4):c.265+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59480178T>G" "" "likely benign" "" "0000623876" "0" "30" "18" "57363902" "57363902" "subst" "0.000109658" "01943" "CCBE1_000049" "g.57363902G>A" "" "" "" "CCBE1(NM_133459.4):c.171C>T (p.Y57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59696670G>A" "" "likely benign" "" "0000623877" "0" "30" "18" "57364449" "57364449" "subst" "0" "01943" "CCBE1_000050" "g.57364449G>A" "" "" "" "CCBE1(NM_133459.4):c.126C>T (p.G42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.59697217G>A" "" "likely benign" "" "0000649847" "1" "50" "18" "57134052" "57134052" "subst" "0.000211418" "03575" "CCBE1_000038" "g.57134052G>A" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121908253}" "Germline" "" "rs121908253" "0" "" "" "g.59466820G>A" "" "VUS" "" "0000681190" "0" "50" "18" "57364534" "57364534" "subst" "0.000136091" "02325" "CCBE1_000023" "g.57364534C>A" "" "" "" "CCBE1(NM_133459.4):c.41G>T (p.G14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692619" "0" "30" "18" "57122164" "57122164" "subst" "4.06514E-6" "01943" "CCBE1_000051" "g.57122164G>C" "" "" "" "CCBE1(NM_133459.4):c.573C>G (p.N191K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692620" "0" "50" "18" "57136743" "57136743" "subst" "2.43718E-5" "02330" "CCBE1_000052" "g.57136743C>T" "" "" "" "CCBE1(NM_133459.3):c.362G>A (p.(Arg121Gln)), CCBE1(NM_133459.4):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726947" "0" "70" "18" "57122143" "57122143" "subst" "0" "02329" "CCBE1_000035" "g.57122143G>T" "" "" "" "CCBE1(NM_133459.4):c.594C>A (p.C198*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000734283" "0" "70" "18" "57122135" "57122135" "subst" "0.00013006" "04011" "CCBE1_000053" "g.57122135G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734318" "0" "70" "18" "57134093" "57134093" "subst" "0.00037" "04011" "CCBE1_000040" "g.57134093G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734460" "0" "70" "18" "57103324" "57103324" "subst" "8.12236E-5" "04011" "CCBE1_000054" "g.57103324C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734642" "0" "70" "18" "57103324" "57103324" "subst" "8.12236E-5" "04011" "CCBE1_000054" "g.57103324C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735474" "0" "70" "18" "57147423" "57147423" "subst" "0.000138606" "04011" "CCBE1_000055" "g.57147423G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808545" "0" "90" "18" "57115306" "57115307" "ins" "5.28296E-5" "01943" "CCBE1_000014" "g.57115306_57115307insA" "" "" "" "CCBE1(NM_133459.3):c.683_684insT (p.(Leu229fs)), CCBE1(NM_133459.4):c.683_684insT (p.L229Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808546" "0" "30" "18" "57134005" "57134005" "subst" "0.000321128" "02326" "CCBE1_000019" "g.57134005T>C" "" "" "" "CCBE1(NM_133459.4):c.519A>G (p.T173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808547" "0" "50" "18" "57136795" "57136795" "subst" "0.000138156" "01943" "CCBE1_000056" "g.57136795C>T" "" "" "" "CCBE1(NM_133459.4):c.310G>A (p.D104N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855341" "0" "30" "18" "57106768" "57106768" "subst" "1.21847E-5" "01943" "CCBE1_000057" "g.57106768G>A" "" "" "" "CCBE1(NM_133459.4):c.951+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865736" "0" "70" "18" "57147460" "57147460" "subst" "3.66925E-5" "02325" "CCBE1_000001" "g.57147460A>T" "" "" "" "CCBE1(NM_133459.4):c.223T>A (p.C75S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865737" "0" "30" "18" "57363878" "57363878" "subst" "0.00472392" "01804" "CCBE1_000021" "g.57363878C>T" "" "" "" "CCBE1(NM_133459.3):c.195G>A (p.(Glu65=)), CCBE1(NM_133459.4):c.195G>A (p.E65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894616" "0" "90" "18" "57115306" "57115307" "ins" "5.28296E-5" "02325" "CCBE1_000014" "g.57115306_57115307insA" "" "" "" "CCBE1(NM_133459.3):c.683_684insT (p.(Leu229fs)), CCBE1(NM_133459.4):c.683_684insT (p.L229Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894617" "0" "30" "18" "57363878" "57363878" "subst" "0.00472392" "02326" "CCBE1_000021" "g.57363878C>T" "" "" "" "CCBE1(NM_133459.3):c.195G>A (p.(Glu65=)), CCBE1(NM_133459.4):c.195G>A (p.E65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926764" "0" "30" "18" "57136725" "57136725" "subst" "0.000437099" "02326" "CCBE1_000041" "g.57136725C>T" "" "" "" "CCBE1(NM_133459.4):c.380G>A (p.R127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926765" "0" "30" "18" "57147479" "57147479" "subst" "0" "02326" "CCBE1_000058" "g.57147479C>T" "" "" "" "CCBE1(NM_133459.4):c.213-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926766" "0" "30" "18" "57364474" "57364474" "subst" "0.0004925" "02326" "CCBE1_000046" "g.57364474G>T" "" "" "" "CCBE1(NM_133459.3):c.101C>A (p.(Thr34Asn)), CCBE1(NM_133459.4):c.101C>A (p.T34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969454" "0" "90" "18" "57136795" "57136795" "subst" "0.000138156" "02330" "CCBE1_000056" "g.57136795C>T" "" "" "" "CCBE1(NM_133459.4):c.310G>A (p.D104N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983092" "0" "30" "18" "57122078" "57122078" "subst" "0.000146377" "01804" "CCBE1_000059" "g.57122078C>T" "" "" "" "CCBE1(NM_133459.4):c.654+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983093" "0" "30" "18" "57122186" "57122186" "subst" "0" "01804" "CCBE1_000060" "g.57122186G>A" "" "" "" "CCBE1(NM_133459.4):c.554-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983094" "0" "30" "18" "57364452" "57364452" "subst" "0.00363952" "01804" "CCBE1_000045" "g.57364452G>T" "" "" "" "CCBE1(NM_133459.4):c.123C>A (p.D41E, p.(Asp41Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004221" "0" "50" "18" "57136743" "57136743" "subst" "2.43718E-5" "01804" "CCBE1_000052" "g.57136743C>T" "" "" "" "CCBE1(NM_133459.3):c.362G>A (p.(Arg121Gln)), CCBE1(NM_133459.4):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042496" "0" "30" "18" "57106987" "57106987" "subst" "0.0120153" "01804" "CCBE1_000008" "g.57106987G>A" "" "" "" "CCBE1(NM_133459.4):c.837C>T (p.P279=, p.(Pro279=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042497" "0" "30" "18" "57122180" "57122180" "subst" "0.000927214" "01804" "CCBE1_000036" "g.57122180T>C" "" "" "" "CCBE1(NM_133459.4):c.557A>G (p.H186R, p.(His186Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042498" "0" "50" "18" "57147415" "57147415" "subst" "0" "01804" "CCBE1_000061" "g.57147415T>A" "" "" "" "CCBE1(NM_133459.4):c.265+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042499" "0" "50" "18" "57364612" "57364612" "subst" "0" "01804" "CCBE1_000062" "g.57364612G>A" "" "" "" "CCBE1(NM_133459.4):c.-38C>T" "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 CCBE1 ## Count = 84 "{{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}}" "0000079672" "00000232" "00" "-8388608" "0" "8388607" "0" "c.-20650606_*8740476del" "r.0?" "p.0?" "" "0000247539" "00000232" "90" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Cys174Arg)" "" "0000264362" "00000232" "10" "1235" "0" "1235" "0" "c.*14C>T" "r.(=)" "p.(=)" "" "0000264363" "00000232" "90" "1071" "0" "1071" "0" "c.1071del" "r.(?)" "p.(Phe357LeufsTer42)" "" "0000264364" "00000232" "10" "265" "8" "265" "8" "c.265+8A>C" "r.(=)" "p.(=)" "" "0000264365" "00000232" "30" "519" "0" "519" "0" "c.519A>G" "r.(?)" "p.(Thr173=)" "" "0000264367" "00000232" "90" "735" "0" "760" "0" "c.735_760del" "r.(?)" "p.(Pro249SerfsTer36)" "" "0000264368" "00000232" "10" "775" "12" "775" "12" "c.775+12A>G" "r.(=)" "p.(=)" "" "0000264369" "00000232" "70" "803" "0" "803" "0" "c.803G>C" "r.(?)" "p.(Gly268Ala)" "" "0000264370" "00000232" "10" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Pro279=)" "" "0000264371" "00000232" "50" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Pro290Leu)" "" "0000264372" "00000232" "10" "988" "-10" "988" "-10" "c.988-10A>G" "r.(=)" "p.(=)" "" "0000266519" "00000232" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Glu65=)" "" "0000266520" "00000232" "10" "775" "12" "775" "12" "c.775+12A>G" "r.(=)" "p.(=)" "" "0000268053" "00000232" "50" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000269841" "00000232" "30" "775" "16" "775" "16" "c.775+16G>A" "r.(=)" "p.(=)" "" "0000272738" "00000232" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000272739" "00000232" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0000325927" "00000232" "90" "683" "0" "684" "0" "c.683_684insT" "r.(?)" "p.(Leu229ProfsTer8)" "" "0000325930" "00000232" "30" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Arg)" "" "0000368278" "00000232" "97" "223" "0" "223" "0" "c.223T>A" "r.(?)" "p.(Cys75Ser)" "3" "0000368279" "00000232" "97" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Cys174Arg)" "5" "0000368280" "00000232" "97" "683" "0" "683" "0" "c.683dup" "r.(?)" "p.(Glu229Glyfs*234)" "7" "0000565166" "00000232" "30" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Glu394Lys)" "" "0000565168" "00000232" "30" "1064" "0" "1064" "0" "c.1064A>C" "r.(?)" "p.(Lys355Thr)" "" "0000565169" "00000232" "50" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ala310Val)" "" "0000565170" "00000232" "30" "894" "0" "894" "0" "c.894G>A" "r.(?)" "p.(Lys298=)" "" "0000565172" "00000232" "50" "740" "0" "740" "0" "c.740G>C" "r.(?)" "p.(Gly247Ala)" "" "0000565173" "00000232" "90" "683" "0" "684" "0" "c.683_684insT" "r.(?)" "p.(Leu229ProfsTer8)" "" "0000565175" "00000232" "90" "604" "0" "604" "0" "c.604dup" "r.(?)" "p.(Cys202LeufsTer27)" "" "0000565177" "00000232" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Arg)" "" "0000565178" "00000232" "30" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(His186Arg)" "" "0000565179" "00000232" "30" "554" "-9" "554" "-9" "c.554-9C>T" "r.(=)" "p.(=)" "" "0000565180" "00000232" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000565181" "00000232" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000565182" "00000232" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000565183" "00000232" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Ile)" "" "0000565184" "00000232" "50" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Thr144Met)" "" "0000565185" "00000232" "50" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000565186" "00000232" "50" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Trp)" "" "0000565187" "00000232" "50" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000565188" "00000232" "50" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Gly77Glu)" "" "0000565189" "00000232" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Glu65=)" "" "0000565190" "00000232" "10" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Asp41Glu)" "" "0000565191" "00000232" "30" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Thr34Asn)" "" "0000565192" "00000232" "30" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Thr34Asn)" "" "0000565193" "00000232" "50" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.(Pro22Leu)" "" "0000617222" "00000232" "50" "1064" "0" "1064" "0" "c.1064A>C" "r.(?)" "p.(Lys355Thr)" "" "0000617223" "00000232" "70" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Gly280Ser)" "" "0000617224" "00000232" "90" "683" "0" "684" "0" "c.683_684insT" "r.(?)" "p.(Leu229ProfsTer8)" "" "0000623874" "00000232" "30" "519" "0" "519" "0" "c.519A>G" "r.(?)" "p.(Thr173=)" "" "0000623875" "00000232" "30" "265" "8" "265" "8" "c.265+8A>C" "r.(=)" "p.(=)" "" "0000623876" "00000232" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Tyr57=)" "" "0000623877" "00000232" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(Gly42=)" "" "0000649847" "00000232" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000681190" "00000232" "50" "41" "0" "41" "0" "c.41G>T" "r.(?)" "p.(Gly14Val)" "" "0000692619" "00000232" "30" "573" "0" "573" "0" "c.573C>G" "r.(?)" "p.(Asn191Lys)" "" "0000692620" "00000232" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000726947" "00000232" "70" "594" "0" "594" "0" "c.594C>A" "r.(?)" "p.(Cys198Ter)" "" "0000734283" "00000232" "50" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Thr201Ile)" "" "0000734318" "00000232" "50" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Thr144Met)" "" "0000734460" "00000232" "50" "1037" "0" "1037" "0" "c.1037G>T" "r.(?)" "p.(Arg346Leu)" "" "0000734642" "00000232" "50" "1037" "0" "1037" "0" "c.1037G>T" "r.(?)" "p.(Arg346Leu)" "" "0000735474" "00000232" "50" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Pro87Gln)" "" "0000808545" "00000232" "90" "683" "0" "684" "0" "c.683_684insT" "r.(?)" "p.(Leu229ProfsTer8)" "" "0000808546" "00000232" "30" "519" "0" "519" "0" "c.519A>G" "r.(?)" "p.(Thr173=)" "" "0000808547" "00000232" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Asp104Asn)" "" "0000855341" "00000232" "30" "951" "7" "951" "7" "c.951+7C>T" "r.(=)" "p.(=)" "" "0000865736" "00000232" "70" "223" "0" "223" "0" "c.223T>A" "r.(?)" "p.(Cys75Ser)" "" "0000865737" "00000232" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Glu65=)" "" "0000894616" "00000232" "90" "683" "0" "684" "0" "c.683_684insT" "r.(?)" "p.(Leu229ProfsTer8)" "" "0000894617" "00000232" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Glu65=)" "" "0000926764" "00000232" "30" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Arg127Gln)" "" "0000926765" "00000232" "30" "213" "-9" "213" "-9" "c.213-9G>A" "r.(=)" "p.(=)" "" "0000926766" "00000232" "30" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Thr34Asn)" "" "0000969454" "00000232" "90" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Asp104Asn)" "" "0000983092" "00000232" "30" "654" "5" "654" "5" "c.654+5G>A" "r.spl?" "p.?" "" "0000983093" "00000232" "30" "554" "-3" "554" "-3" "c.554-3C>T" "r.spl?" "p.?" "" "0000983094" "00000232" "30" "123" "0" "123" "0" "c.123C>A" "r.(?)" "p.(Asp41Glu)" "" "0001004221" "00000232" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0001042496" "00000232" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Pro279=)" "" "0001042497" "00000232" "30" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(His186Arg)" "" "0001042498" "00000232" "50" "265" "3" "265" "3" "c.265+3A>T" "r.spl?" "p.?" "" "0001042499" "00000232" "50" "-38" "0" "-38" "0" "c.-38C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000164719" "0000368278" "0000164720" "0000368279" "0000164720" "0000368280" "0000293158" "0000649847" "0000335622" "0000734283" "0000335634" "0000734318" "0000335714" "0000734460" "0000335770" "0000734642" "0000336255" "0000735474"