### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC78) # 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}}" "CCDC78" "coiled-coil domain containing 78" "16" "p13.3" "unknown" "NG_032932.1" "UD_132438205841" "" "https://www.LOVD.nl/CCDC78" "" "1" "14153" "124093" "614666" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/CCDC78_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-09-01 00:00:00" "00006" "2019-01-20 14:05:17" "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}}" "00004504" "CCDC78" "coiled-coil domain containing 78" "001" "NM_001031737.2" "" "NP_001026907.2" "" "" "" "-106" "1505" "1317" "776473" "772582" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03728" "CNM4" "myopathy, centronuclear, type 4 (CNM-4)" "AD" "614807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CCDC78" "00139" "CCDC78" "03728" ## 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}}" "00078898" "" "" "" "128" "" "00006" "{PMID:Majczenko 2012:22818856}" "" "F" "no" "United States" ">8y" "0" "" "" "" "" "00078899" "" "" "" "129" "" "00006" "{PMID:Majczenko 2012:22818856}" "" "F" "no" "United States" ">5y" "0" "" "" "" "" "00078900" "" "" "" "130" "" "00006" "{PMID:Majczenko 2012:22818856}" "" "F" "no" "United States" ">28y" "0" "" "" "" "" "00078901" "" "" "" "131" "" "00006" "{PMID:Majczenko 2012:22818856}" "" "M" "no" "United States" ">25y" "0" "" "" "" "" "00078902" "" "" "" "132" "" "00006" "{PMID:Majczenko 2012:22818856}" "" "F" "no" "United States" ">48y" "0" "" "" "" "" "00174818" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Poland" "" "0" "" "" "" "Pat667;B2(II1)" "00291547" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291548" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304535" "" "" "" "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 = 9 "{{individualid}}" "{{diseaseid}}" "00078898" "00244" "00078899" "00244" "00078900" "00244" "00078901" "00244" "00078902" "00244" "00174818" "05126" "00291547" "00198" "00291548" "00198" "00304535" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 03728, 05126 ## Count = 6 "{{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}}" "0000058654" "00244" "00078898" "00006" "Familial, autosomal dominant" "" "myopathy, congenital; increasing falls and decreasing exercise tolerance (wheelchair for long distances); weakness distal>proximal, hand intrinsics most involved; no eye muscle involvement, no respiratory involvement, no cardiac involvement; normal school performance; prominent myalgias; normal EMG; biopsy type I fiber predominance, core-like areas, central nuclei >25% fibers; normal; normal CPK (-HP:0003236); areas DES/actin immunopositivity" "" "" "neonatal hypotonia, delayed motor development" "" "" "" "" "" "" "" "" "0000058655" "00244" "00078899" "00006" "Familial, autosomal dominant" "" "myopathy, congenital; no progression; diffuse weakness; no eye muscle involvement, no respiratory involvement, no cardiac involvement; delayed cognitive development; prominent myalgias; no EMG; type I fiber predominance, core-like areas, central nuclei 10% fibers; mild MR; normal CPK (-HP:0003236); DES diffusely positive cytoplasmic staining" "" "" "neonatal hypotonia, delayed motor development" "" "" "" "" "" "" "" "" "0000058656" "00244" "00078900" "00006" "Familial, autosomal dominant" "" "myopathy, congenital; worsening exercise tolerance (ambulation independent); mild distal only weakness; ; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; myalgias and muscle cramping; normal EMG; fiber atrophy (type I and II), core-like areas; mild MR; normal CPK (-HP:0003236); DES positive cytoplasmic staining" "" "" "increased falls, abnormal gait" "" "" "" "" "" "" "" "" "0000058657" "00244" "00078901" "00006" "Familial, autosomal dominant" "" "myopathy, congenital; progressive gait difficulties (requires assistance with prolonged ambulation); weakness distal>proximal, LE>UE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; ankylosing spondylitis; epilepsy; mild MR; increased CPK (HP:0003236) 129-355 IU/L" "" "" "developmental delay" "" "" "" "" "" "" "" "" "0000058658" "00244" "00078902" "00006" "Familial, autosomal dominant" "" "myopathy, congenital; worsening exercise intolerance; weakness mild distal only in UE, mild diffuse weakness in LE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; mild cognitive difficulties; mild MR; normal CPK (-HP:0003236)" "" "" "poor athletic skills, frequent falls" "" "" "" "" "" "" "" "" "0000139645" "05126" "00174818" "00006" "Unknown" "48y" "onset overt symptoms childhood; CPK raised 15x; slowly progressive limb-girdle weakness; myalgia; in lower limbs also distal weakness; ambulation preserved; muscle biopsy: non-specific myopathic changes , many fibers with centrally located nuclei" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy, AD inheritance with incomplete penetrance?" "" ## 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}}" "0000079084" "00078898" "1" "00006" "00006" "2012-09-07 15:20:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000079085" "00078899" "1" "00006" "00006" "2012-09-07 15:20:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000079086" "00078900" "1" "00006" "00006" "2012-09-07 15:20:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000079087" "00078901" "1" "00006" "00006" "2012-09-07 15:20:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000079088" "00078902" "1" "00006" "00006" "2012-09-07 15:20:17" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000175709" "00174818" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000292715" "00291547" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292716" "00291548" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305664" "00304535" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000079084" "CCDC78" "0000079085" "CCDC78" "0000079086" "CCDC78" "0000079087" "CCDC78" "0000079088" "CCDC78" ## 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 = 50 "{{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}}" "0000126816" "21" "90" "16" "776086" "776086" "subst" "2.69767E-5" "00006" "CCDC78_000001" "g.776086C>T" "" "{PMID:Majczenko 2012:22818856}" "" "" "linkage analysis, whole exome sequencing; lymphoblast RNA" "Germline" "" "" "0" "" "" "g.726086C>T" "" "pathogenic" "" "0000126817" "21" "90" "16" "776086" "776086" "subst" "2.69767E-5" "00006" "CCDC78_000001" "g.776086C>T" "" "{PMID:Majczenko 2012:22818856}" "" "" "linkage analysis, whole exome sequencing; lymphoblast RNA" "Germline" "" "" "0" "" "" "g.726086C>T" "" "pathogenic" "" "0000126818" "21" "90" "16" "776086" "776086" "subst" "2.69767E-5" "00006" "CCDC78_000001" "g.776086C>T" "" "{PMID:Majczenko 2012:22818856}" "" "" "linkage analysis, whole exome sequencing; lymphoblast RNA" "Germline" "" "" "0" "" "" "g.726086C>T" "" "pathogenic" "" "0000126819" "21" "90" "16" "776086" "776086" "subst" "2.69767E-5" "00006" "CCDC78_000001" "g.776086C>T" "" "{PMID:Majczenko 2012:22818856}" "" "" "linkage analysis, whole exome sequencing; lymphoblast RNA" "Germline" "" "" "0" "" "" "g.726086C>T" "" "pathogenic" "" "0000126820" "0" "90" "16" "776086" "776086" "subst" "2.69767E-5" "00006" "CCDC78_000001" "g.776086C>T" "" "{PMID:Majczenko 2012:22818856}" "" "" "linkage analysis, whole exome sequencing; lymphoblast RNA" "Germline" "" "" "0" "" "" "g.726086C>T" "" "pathogenic" "" "0000248949" "0" "10" "16" "774692" "774692" "subst" "0.599636" "02325" "CCDC78_000006" "g.774692A>G" "" "" "" "CCDC78(NM_001031737.3):c.754T>C (p.W252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.724692A>G" "" "benign" "" "0000266541" "0" "10" "16" "773299" "773299" "del" "0" "02325" "CCDC78_000002" "g.773299del" "" "" "" "CCDC78(NM_001031737.3):c.1134-131delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.723299del" "" "benign" "" "0000266542" "0" "10" "16" "773341" "773341" "subst" "0.582926" "02325" "CCDC78_000003" "g.773341G>A" "" "" "" "CCDC78(NM_001031737.3):c.1134-180C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.723341G>A" "" "benign" "" "0000266543" "0" "10" "16" "773367" "773367" "subst" "0.215261" "02325" "CCDC78_000004" "g.773367G>T" "" "" "" "CCDC78(NM_001031737.3):c.1134-206C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.723367G>T" "" "benign" "" "0000266544" "0" "10" "16" "774520" "774520" "subst" "0.575774" "02325" "CCDC78_000005" "g.774520C>T" "" "" "" "CCDC78(NM_001031737.3):c.766-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.724520C>T" "" "benign" "" "0000272806" "0" "50" "16" "776367" "776367" "subst" "3.10733E-5" "01943" "CCDC78_000012" "g.776367T>C" "" "" "" "CCDC78(NM_001031737.2):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.726367T>C" "" "VUS" "" "0000324383" "0" "30" "16" "775844" "775844" "subst" "4.14983E-6" "01804" "CCDC78_000009" "g.775844G>A" "" "" "" "CCDC78(NM_001031737.2):c.217C>T (p.(His73Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.725844G>A" "" "likely benign" "" "0000324386" "0" "30" "16" "777591" "777591" "subst" "2.93093E-5" "01804" "HAGHL_000001" "g.777591G>C" "" "" "" "HAGHL(NM_032304.2):c.82G>C (p.(Val28Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.727591G>C" "" "likely benign" "" "0000324388" "0" "50" "16" "778404" "778404" "subst" "0" "01804" "HAGHL_000002" "g.778404A>C" "" "" "" "HAGHL(NM_032304.2):c.377A>C (p.(Asp126Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.728404A>C" "" "VUS" "" "0000324389" "0" "50" "16" "778412" "778412" "subst" "0" "01804" "HAGHL_000003" "g.778412G>C" "" "" "" "HAGHL(NM_032304.2):c.385G>C (p.(Ala129Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.728412G>C" "" "VUS" "" "0000398568" "1" "50" "16" "775540" "775540" "subst" "0.000176465" "00006" "CCDC78_000013" "g.775540C>T" "" "{PMID:Fichna 2018:29970176}" "" "" "" "Germline" "" "" "0" "" "" "g.725540C>T" "" "VUS" "" "0000559165" "0" "30" "16" "771441" "771441" "subst" "0.00214592" "01804" "CCDC78_000014" "g.771441G>A" "" "" "" "FAM173A(NM_001271285.1):c.162+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.721441G>A" "" "likely benign" "" "0000559174" "0" "10" "16" "773321" "773321" "dup" "0" "02325" "CCDC78_000017" "g.773321dup" "" "" "" "CCDC78(NM_001031737.3):c.1134-153dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.723321dup" "" "benign" "" "0000559201" "0" "30" "16" "774193" "774193" "subst" "0.00384349" "01804" "CCDC78_000018" "g.774193G>T" "" "" "" "CCDC78(NM_001031737.2):c.966C>A (p.(Asn322Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.724193G>T" "" "likely benign" "" "0000559202" "0" "30" "16" "774431" "774431" "subst" "1.692E-5" "01804" "CCDC78_000019" "g.774431G>A" "" "" "" "CCDC78(NM_001031737.2):c.844C>T (p.(Arg282Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.724431G>A" "" "likely benign" "" "0000559210" "0" "30" "16" "774709" "774709" "subst" "0.00164089" "02325" "CCDC78_000020" "g.774709C>T" "" "" "" "CCDC78(NM_001031737.3):c.737G>A (p.R246Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.724709C>T" "" "likely benign" "" "0000559212" "0" "50" "16" "775852" "775852" "subst" "0" "02325" "CCDC78_000022" "g.775852A>T" "" "" "" "CCDC78(NM_001031737.3):c.209T>A (p.I70N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.725852A>T" "" "VUS" "" "0000616151" "0" "30" "16" "774734" "774734" "subst" "0.00919232" "01804" "CCDC78_000027" "g.774734T>G" "" "" "" "CCDC78(NM_001031737.2):c.712A>C (p.(Lys238Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.724734T>G" "" "likely benign" "" "0000616152" "0" "50" "16" "774906" "774906" "subst" "0" "02325" "CCDC78_000028" "g.774906C>T" "" "" "" "CCDC78(NM_001031737.3):c.639+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.724906C>T" "" "VUS" "" "0000649404" "1" "30" "16" "772978" "772978" "subst" "0.000616015" "03575" "CCDC78_000029" "g.772978C>T" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs146067716}" "Germline" "" "rs146067716" "0" "" "" "g.722978C>T" "" "likely benign" "" "0000649405" "1" "10" "16" "774734" "774734" "subst" "0.00919232" "03575" "CCDC78_000027" "g.774734T>G" "34/2766 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous; {DB:CLININrs142136104}" "Germline" "" "rs142136104" "0" "" "" "g.724734T>G" "" "benign" "" "0000669352" "3" "10" "16" "774734" "774734" "subst" "0.00919232" "03575" "CCDC78_000027" "g.774734T>G" "3/2766 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs142136104}" "Germline" "" "rs142136104" "0" "" "" "g.724734T>G" "" "benign" "" "0000680665" "0" "50" "16" "774464" "774464" "subst" "5.20007E-5" "01943" "CCDC78_000031" "g.774464G>A" "" "" "" "CCDC78(NM_001031737.2):c.811C>T (p.R271W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680666" "0" "30" "16" "775237" "775237" "subst" "0.000367711" "02325" "CCDC78_000032" "g.775237G>A" "" "" "" "CCDC78(NM_001031737.3):c.492C>T (p.G164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692147" "0" "50" "16" "775136" "775136" "subst" "8.15009E-6" "01804" "CCDC78_000033" "g.775136C>T" "" "" "" "CCDC78(NM_001031737.2):c.502G>A (p.(Glu168Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692148" "0" "50" "16" "775236" "775236" "subst" "0.00236693" "01943" "CCDC78_000034" "g.775236C>T" "" "" "" "CCDC78(NM_001031737.2):c.492+1G>A, CCDC78(NM_001378030.1):c.492+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692149" "0" "30" "16" "775561" "775561" "subst" "2.89242E-5" "02325" "CCDC78_000007" "g.775561C>T" "" "" "" "CCDC78(NM_001031737.3):c.287G>A (p.R96Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725972" "0" "50" "16" "772780" "772780" "subst" "1.22334E-5" "02329" "CCDC78_000026" "g.772780G>C" "" "" "" "CCDC78(NM_001031737.2):c.1307C>G (p.T436R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807604" "0" "50" "16" "775963" "775963" "subst" "0" "02329" "CCDC78_000035" "g.775963C>A" "" "" "" "CCDC78(NM_001031737.2):c.180+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854647" "0" "50" "16" "771376" "771376" "del" "0" "01943" "CCDC78_000036" "g.771376del" "" "" "" "FAM173A(NM_023933.3):c.102delC (p.Y35Tfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864938" "0" "50" "16" "772792" "772792" "subst" "2.0393E-5" "01943" "CCDC78_000037" "g.772792G>A" "" "" "" "CCDC78(NM_001031737.2):c.1298-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893181" "0" "30" "16" "774463" "774463" "subst" "0.000142697" "01804" "CCDC78_000038" "g.774463C>T" "" "" "" "CCDC78(NM_001031737.2):c.812G>A (p.(Arg271Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982088" "0" "30" "16" "772797" "772797" "subst" "0.000505809" "01804" "CCDC78_000040" "g.772797G>T" "" "" "" "CCDC78(NM_001378030.1):c.1302-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982089" "0" "30" "16" "773030" "773030" "subst" "0" "01804" "CCDC78_000041" "g.773030G>A" "" "" "" "CCDC78(NM_001378030.1):c.1201-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982092" "0" "30" "16" "775236" "775236" "subst" "0.00236693" "01804" "CCDC78_000034" "g.775236C>T" "" "" "" "CCDC78(NM_001031737.2):c.492+1G>A, CCDC78(NM_001378030.1):c.492+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002592" "0" "50" "16" "773163" "773163" "subst" "0" "01804" "CCDC78_000042" "g.773163T>C" "" "" "" "CCDC78(NM_001031737.2):c.1134-2A>G (p.?), CCDC78(NM_001378030.1):c.1134-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002593" "0" "50" "16" "774922" "774922" "subst" "3.1355E-5" "01804" "CCDC78_000043" "g.774922T>A" "" "" "" "CCDC78(NM_001031737.2):c.628A>T (p.(Thr210Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002595" "0" "30" "16" "778110" "778113" "del" "0" "01804" "CCDC78_000044" "g.778110_778113del" "" "" "" "HAGHL(NM_032304.2):c.171-6_171-3delCCGC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015430" "0" "50" "16" "773163" "773163" "subst" "0" "02329" "CCDC78_000042" "g.773163T>C" "" "" "" "CCDC78(NM_001031737.2):c.1134-2A>G (p.?), CCDC78(NM_001378030.1):c.1134-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041363" "0" "30" "16" "772985" "772985" "subst" "0.000375314" "01804" "CCDC78_000045" "g.772985C>T" "" "" "" "CCDC78(NM_001378030.1):c.1238G>A (p.(Arg413Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041364" "0" "50" "16" "773111" "773111" "subst" "0" "01804" "CCDC78_000046" "g.773111A>G" "" "" "" "CCDC78(NM_001378030.1):c.1184T>C (p.(Phe395Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041368" "0" "30" "16" "774312" "774312" "subst" "0.000472074" "01804" "CCDC78_000047" "g.774312C>T" "" "" "" "CCDC78(NM_001378030.1):c.953+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041369" "0" "50" "16" "775209" "775209" "subst" "4.10092E-6" "01804" "CCDC78_000048" "g.775209C>G" "" "" "" "CCDC78(NM_001378033.1):c.67G>C (p.(Glu23Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041370" "0" "30" "16" "775464" "775464" "subst" "0.000464908" "01804" "CCDC78_000049" "g.775464C>A" "" "" "" "CCDC78(NM_001378030.1):c.384G>T (p.(Glu128Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046580" "0" "50" "16" "775963" "775963" "subst" "0" "02327" "CCDC78_000035" "g.775963C>A" "" "" "" "CCDC78(NM_001031737.2):c.180+3G>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 CCDC78 ## Count = 50 "{{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}}" "0000126816" "00004504" "90" "61" "-1" "61" "-1" "c.61-1G>A" "r.60_61ins[60+1_61-2;a]" "p.Asn20_Val21ins74" "1i" "0000126817" "00004504" "90" "61" "-1" "61" "-1" "c.61-1G>A" "r.60_61ins[60+1_61-2;a]" "p.Asn20_Val21ins74" "1i" "0000126818" "00004504" "90" "61" "-1" "61" "-1" "c.61-1G>A" "r.60_61ins[60+1_61-2;a]" "p.Asn20_Val21ins74" "1i" "0000126819" "00004504" "90" "61" "-1" "61" "-1" "c.61-1G>A" "r.60_61ins[60+1_61-2;a]" "p.Asn20_Val21ins74" "1i" "0000126820" "00004504" "90" "61" "-1" "61" "-1" "c.61-1G>A" "r.60_61ins[60+1_61-2;a]" "p.Asn20_Val21ins74" "1i" "0000248949" "00004504" "10" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Trp252Arg)" "" "0000266541" "00004504" "10" "1134" "-131" "1134" "-131" "c.1134-131del" "r.(=)" "p.(=)" "" "0000266542" "00004504" "10" "1134" "-180" "1134" "-180" "c.1134-180C>T" "r.(=)" "p.(=)" "" "0000266543" "00004504" "10" "1134" "-206" "1134" "-206" "c.1134-206C>A" "r.(=)" "p.(=)" "" "0000266544" "00004504" "10" "766" "-11" "766" "-11" "c.766-11G>A" "r.(=)" "p.(=)" "" "0000272806" "00004504" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000324383" "00004504" "30" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(His73Tyr)" "" "0000324386" "00004504" "30" "-1224" "0" "-1224" "0" "c.-1224C>G" "r.(?)" "p.(=)" "" "0000324388" "00004504" "50" "-2037" "0" "-2037" "0" "c.-2037T>G" "r.(?)" "p.(=)" "" "0000324389" "00004504" "50" "-2045" "0" "-2045" "0" "c.-2045C>G" "r.(?)" "p.(=)" "" "0000398568" "00004504" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000559165" "00004504" "30" "2646" "0" "2646" "0" "c.*1329C>T" "r.(=)" "p.(=)" "" "0000559174" "00004504" "10" "1134" "-153" "1134" "-153" "c.1134-153dup" "r.(=)" "p.(=)" "" "0000559201" "00004504" "30" "966" "0" "966" "0" "c.966C>A" "r.(?)" "p.(Asn322Lys)" "" "0000559202" "00004504" "30" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Arg282Trp)" "" "0000559210" "00004504" "30" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246Gln)" "" "0000559212" "00004504" "50" "209" "0" "209" "0" "c.209T>A" "r.(?)" "p.(Ile70Asn)" "" "0000616151" "00004504" "30" "712" "0" "712" "0" "c.712A>C" "r.(?)" "p.(Lys238Gln)" "" "0000616152" "00004504" "50" "639" "5" "639" "5" "c.639+5G>A" "r.spl?" "p.?" "" "0000649404" "00004504" "30" "1241" "0" "1241" "0" "c.1241G>A" "r.(?)" "p.(Arg414Gln)" "" "0000649405" "00004504" "10" "712" "0" "712" "0" "c.712A>C" "r.(?)" "p.(Lys238Gln)" "" "0000669352" "00004504" "10" "712" "0" "712" "0" "c.712A>C" "r.(?)" "p.(Lys238Gln)" "" "0000680665" "00004504" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Trp)" "" "0000680666" "00004504" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Gly164=)" "" "0000692147" "00004504" "50" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Glu168Lys)" "" "0000692148" "00004504" "50" "492" "1" "492" "1" "c.492+1G>A" "r.spl?" "p.?" "" "0000692149" "00004504" "30" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Arg96Gln)" "" "0000725972" "00004504" "50" "1307" "0" "1307" "0" "c.1307C>G" "r.(?)" "p.(Thr436Arg)" "" "0000807604" "00004504" "50" "180" "3" "180" "3" "c.180+3G>T" "r.spl?" "p.?" "" "0000854647" "00004504" "50" "2712" "0" "2712" "0" "c.*1395del" "r.(?)" "p.(=)" "" "0000864938" "00004504" "50" "1298" "-3" "1298" "-3" "c.1298-3C>T" "r.spl?" "p.?" "" "0000893181" "00004504" "30" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Gln)" "" "0000982088" "00004504" "30" "1298" "-8" "1298" "-8" "c.1298-8C>A" "r.(=)" "p.(=)" "" "0000982089" "00004504" "30" "1201" "-12" "1201" "-12" "c.1201-12C>T" "r.(=)" "p.(=)" "" "0000982092" "00004504" "30" "492" "1" "492" "1" "c.492+1G>A" "r.spl?" "p.?" "" "0001002592" "00004504" "50" "1134" "-2" "1134" "-2" "c.1134-2A>G" "r.spl?" "p.?" "" "0001002593" "00004504" "50" "628" "0" "628" "0" "c.628A>T" "r.(?)" "p.(Thr210Ser)" "" "0001002595" "00004504" "30" "-1733" "0" "-1730" "0" "c.-1733_-1730del" "r.(?)" "p.(=)" "" "0001015430" "00004504" "50" "1134" "-2" "1134" "-2" "c.1134-2A>G" "r.spl?" "p.?" "" "0001041363" "00004504" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0001041364" "00004504" "50" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Phe395Ser)" "" "0001041368" "00004504" "30" "953" "10" "953" "10" "c.953+10G>A" "r.(=)" "p.(=)" "" "0001041369" "00004504" "50" "492" "28" "492" "28" "c.492+28G>C" "r.(=)" "p.(=)" "" "0001041370" "00004504" "30" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(Glu128Asp)" "" "0001046580" "00004504" "50" "180" "3" "180" "3" "c.180+3G>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000079084" "0000126816" "0000079085" "0000126817" "0000079086" "0000126818" "0000079087" "0000126819" "0000079088" "0000126820" "0000175709" "0000398568" "0000292715" "0000649404" "0000292716" "0000649405" "0000305664" "0000669352"