### 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:![](\"docs/LOVD_LMDp-logo.png\")
" "" "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" "00006" "2025-11-13 13:04:16"
## 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 = 10
"{{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" "" "" "" ""
"00468733" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{individualid}}" "{{diseaseid}}"
"00078898" "00244"
"00078899" "00244"
"00078900" "00244"
"00078901" "00244"
"00078902" "00244"
"00174818" "05126"
"00291547" "00198"
"00291548" "00198"
"00304535" "00198"
"00468733" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 03728, 05126
## Count = 7
"{{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?" ""
"0000353886" "00198" "00468733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" ""
## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{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"
"0000470401" "00468733" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## 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 = 56
"{{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?), CCDC78(NM_001378030.1):c.1A>G (p.(Met1?))" "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" ""
"0001055296" "0" "50" "16" "774166" "774166" "subst" "0" "01804" "CCDC78_000050" "g.774166G>C" "" "" "" "CCDC78(NM_001378030.1):c.993C>G (p.(Ser331Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055297" "0" "30" "16" "774691" "774691" "subst" "0.000273152" "01804" "CCDC78_000051" "g.774691C>T" "" "" "" "CCDC78(NM_001378030.1):c.755G>A (p.(Trp252Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001055298" "0" "30" "16" "775122" "775122" "subst" "4.07488E-6" "01804" "CCDC78_000052" "g.775122C>T" "" "" "" "CCDC78(NM_001378033.1):c.154G>A (p.(Ala52Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001055299" "0" "50" "16" "775136" "775136" "subst" "1.63002E-5" "01804" "CCDC78_000053" "g.775136C>A" "" "" "" "CCDC78(NM_001378030.1):c.502G>T (p.(Glu168*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001055300" "0" "50" "16" "776367" "776367" "subst" "3.10733E-5" "01804" "CCDC78_000012" "g.776367T>C" "" "" "" "CCDC78(NM_001031737.2):c.1A>G (p.M1?), CCDC78(NM_001378030.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001058523" "0" "70" "16" "774934" "774934" "subst" "4.34643E-6" "00006" "CCDC78_000054" "g.774934G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.724934G>A" "" "likely pathogenic" ""
## 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 = 56
"{{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.?" ""
"0001055296" "00004504" "50" "993" "0" "993" "0" "c.993C>G" "r.(?)" "p.(Ser331Arg)" ""
"0001055297" "00004504" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Trp252*)" ""
"0001055298" "00004504" "30" "516" "0" "516" "0" "c.516G>A" "r.(?)" "p.(=)" ""
"0001055299" "00004504" "50" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Glu168*)" ""
"0001055300" "00004504" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0001058523" "00004504" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Gln206Ter)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{variantid}}"
"0000079084" "0000126816"
"0000079085" "0000126817"
"0000079086" "0000126818"
"0000079087" "0000126819"
"0000079088" "0000126820"
"0000175709" "0000398568"
"0000292715" "0000649404"
"0000292716" "0000649405"
"0000305664" "0000669352"
"0000470401" "0001058523"