### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC88C) # 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}}" "CCDC88C" "coiled-coil domain containing 88C" "14" "q32.12" "unknown" "NC_000014.8" "UD_136017957871" "" "https://www.LOVD.nl/CCDC88C" "" "1" "19967" "440193" "611204" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-21 14:45:35" "00006" "2026-09-21 14:42:34" ## 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}}" "00004517" "CCDC88C" "coiled-coil domain containing 88C" "001" "NM_001080414.3" "" "NP_001073883.2" "" "" "" "-154" "7389" "6087" "91884188" "91737667" "" "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" "00852" "HYC1" "Hydrocephalus, congenital, 1" "AR" "236600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04396" "SCA40" "ataxia, spinocerebellar, type 40 (SCA-40)" "AD" "616053" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CCDC88C" "00139" "CCDC88C" "00852" "CCDC88C" "04396" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00291140" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291141" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291142" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291143" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00485022" "" "" "" "1" "" "00006" "{PMID:Mattioli 2021:34764295}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatIV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00291140" "00198" "00291141" "00198" "00291142" "00198" "00291143" "00198" "00485022" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00852, 04396, 05611 ## Count = 1 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000367797" "05611" "00485022" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., no microcephaly, no strabismus, facial dysmorphism, neurodevelopment, severe intellectual disability, motor delay, speech delay, fine motor impairment, epilepsy, MRI brain normal, stereotype movements, autistic features" "" "" "" "" "" "" "" "NEDGBA" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292308" "00291140" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292309" "00291141" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292310" "00291142" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292311" "00291143" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000486677" "00485022" "1" "00006" "00006" "2026-09-21 11:00:09" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 188 "{{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}}" "0000248824" "0" "10" "14" "91739081" "91739081" "subst" "0.847356" "02325" "CCDC88C_000001" "g.91739081A>G" "" "" "" "CCDC88C(NM_001080414.4):c.5975T>C (p.L1992P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91272737A>G" "" "benign" "" "0000250554" "0" "50" "14" "91804416" "91804416" "subst" "0" "02329" "CCDC88C_000039" "g.91804416A>C" "" "" "" "CCDC88C(NM_001080414.3):c.983T>G (p.L328R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91338072A>C" "" "VUS" "" "0000254335" "0" "30" "14" "91792386" "91792386" "subst" "8.37451E-5" "01943" "CCDC88C_000036" "g.91792386A>G" "" "" "" "CCDC88C(NM_001080414.3):c.1065T>C (p.D355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91326042A>G" "" "likely benign" "" "0000255290" "0" "30" "14" "91826064" "91826064" "subst" "0.000221592" "01943" "CCDC88C_000049" "g.91826064A>G" "" "" "" "CCDC88C(NM_001080414.3):c.271-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91359720A>G" "" "likely benign" "" "0000256211" "0" "50" "14" "91770117" "91770117" "subst" "4.08857E-6" "01943" "CCDC88C_000024" "g.91770117A>G" "" "" "" "CCDC88C(NM_001080414.3):c.3563T>C (p.L1188P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91303773A>G" "" "VUS" "" "0000256220" "0" "50" "14" "91745593" "91745593" "subst" "4.9073E-5" "01943" "CCDC88C_000012" "g.91745593A>G" "" "" "" "CCDC88C(NM_001080414.3):c.4757T>C (p.L1586P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91279249A>G" "" "VUS" "" "0000256221" "0" "50" "14" "91739969" "91739969" "subst" "0.00227492" "01943" "CCDC88C_000009" "g.91739969A>G" "" "" "" "CCDC88C(NM_001080414.3):c.5087T>C (p.L1696P), CCDC88C(NM_001080414.4):c.5087T>C (p.L1696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91273625A>G" "" "VUS" "" "0000266547" "0" "30" "14" "91804340" "91804340" "subst" "8.65009E-5" "02325" "CCDC88C_000037" "g.91804340G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91337996G>A" "" "likely benign" "" "0000266548" "0" "30" "14" "91780445" "91780445" "subst" "0.000354844" "02325" "CCDC88C_000035" "g.91780445G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91314101G>A" "" "likely benign" "" "0000266549" "0" "30" "14" "91779989" "91779989" "subst" "1.63111E-5" "02325" "CCDC88C_000032" "g.91779989G>A" "" "" "" "CCDC88C(NM_001080414.4):c.2171C>T (p.A724V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91313645G>A" "" "likely benign" "" "0000266550" "0" "30" "14" "91779740" "91779740" "subst" "2.52315E-5" "02325" "CCDC88C_000030" "g.91779740C>T" "" "" "" "CCDC88C(NM_001080414.4):c.2420G>A (p.R807Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91313396C>T" "" "likely benign" "" "0000266551" "0" "10" "14" "91773568" "91773568" "subst" "0.532934" "02325" "CCDC88C_000027" "g.91773568T>C" "" "" "" "CCDC88C(NM_001080414.4):c.3009A>G (p.L1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91307224T>C" "" "benign" "" "0000266552" "0" "10" "14" "91763637" "91763637" "subst" "0.49805" "02325" "CCDC88C_000020" "g.91763637C>T" "" "" "" "CCDC88C(NM_001080414.4):c.3966+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91297293C>T" "" "benign" "" "0000266553" "0" "10" "14" "91883967" "91883967" "subst" "0.415619" "02325" "CCDC88C_000053" "g.91883967G>T" "" "" "" "CCDC88C(NM_001080414.4):c.60+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91417623G>T" "" "benign" "" "0000266554" "0" "10" "14" "91883499" "91883499" "subst" "0" "02325" "CCDC88C_000052" "g.91883499G>A" "" "" "" "CCDC88C(NM_001080414.4):c.61-317C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91417155G>A" "" "benign" "" "0000266555" "0" "50" "14" "91804428" "91804428" "subst" "3.65711E-5" "02325" "CCDC88C_000042" "g.91804428C>T" "" "" "" "CCDC88C(NM_001080414.3):c.971G>A (p.R324H), CCDC88C(NM_001080414.4):c.971G>A (p.R324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91338084C>T" "" "VUS" "" "0000268057" "0" "50" "14" "91804417" "91804417" "subst" "0" "02329" "CCDC88C_000040" "g.91804417G>C" "" "" "" "CCDC88C(NM_001080414.3):c.982C>G (p.L328V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91338073G>C" "" "VUS" "" "0000272808" "0" "30" "14" "91804340" "91804340" "subst" "8.65009E-5" "01943" "CCDC88C_000037" "g.91804340G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91337996G>A" "" "likely benign" "" "0000272809" "0" "30" "14" "91779871" "91779871" "subst" "0.000395889" "01943" "CCDC88C_000031" "g.91779871G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2289C>T (p.S763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91313527G>A" "" "likely benign" "" "0000272810" "0" "30" "14" "91826053" "91826053" "subst" "0.000235655" "01943" "CCDC88C_000048" "g.91826053T>C" "" "" "" "CCDC88C(NM_001080414.3):c.273A>G (p.E91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91359709T>C" "" "likely benign" "" "0000272811" "0" "30" "14" "91772264" "91772264" "subst" "0.00166591" "01943" "CCDC88C_000026" "g.91772264C>A" "" "" "" "CCDC88C(NM_001080414.3):c.3202G>T (p.A1068S, p.(Ala1068Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91305920C>A" "" "likely benign" "" "0000272812" "0" "30" "14" "91770332" "91770332" "subst" "0" "01943" "CCDC88C_000025" "g.91770332G>C" "" "" "" "CCDC88C(NM_001080414.3):c.3358-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91303988G>C" "" "likely benign" "" "0000272813" "0" "50" "14" "91763720" "91763720" "subst" "0.00448033" "01943" "CCDC88C_000022" "g.91763720G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3895C>T (p.R1299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91297376G>A" "" "VUS" "" "0000272814" "0" "30" "14" "91763715" "91763715" "subst" "0.000562994" "01943" "CCDC88C_000021" "g.91763715G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3900C>T (p.F1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91297371G>A" "" "likely benign" "" "0000272815" "0" "50" "14" "91757343" "91757343" "subst" "0.00028444" "01943" "CCDC88C_000019" "g.91757343T>G" "" "" "" "CCDC88C(NM_001080414.3):c.4198A>C (p.K1400Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91290999T>G" "" "VUS" "" "0000272816" "0" "10" "14" "91755603" "91755603" "subst" "0.00429643" "01943" "CCDC88C_000018" "g.91755603G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4287C>T (p.T1429=), CCDC88C(NM_001080414.4):c.4287C>T (p.T1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91289259G>A" "" "benign" "" "0000272817" "0" "30" "14" "91747832" "91747832" "subst" "0.00549049" "01943" "CCDC88C_000014" "g.91747832C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4668G>A (p.L1556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91281488C>T" "" "likely benign" "" "0000272818" "0" "30" "14" "91745643" "91745643" "subst" "0.00262043" "01943" "CCDC88C_000013" "g.91745643C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4707G>A (p.R1569=), CCDC88C(NM_001080414.4):c.4707G>A (p.R1569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91279299C>T" "" "likely benign" "" "0000272819" "0" "30" "14" "91808716" "91808716" "subst" "0.00104126" "01943" "CCDC88C_000047" "g.91808716G>A" "" "" "" "CCDC88C(NM_001080414.3):c.483+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91342372G>A" "" "likely benign" "" "0000272820" "0" "30" "14" "91744460" "91744460" "subst" "4.11303E-6" "01943" "CCDC88C_000011" "g.91744460T>C" "" "" "" "CCDC88C(NM_001080414.3):c.4864A>G (p.T1622A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91278116T>C" "" "likely benign" "" "0000272821" "0" "10" "14" "91744435" "91744435" "subst" "0.000910959" "01943" "CCDC88C_000010" "g.91744435C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4889G>A (p.R1630H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91278091C>T" "" "benign" "" "0000272822" "0" "50" "14" "91739805" "91739805" "subst" "0.00116262" "01943" "CCDC88C_000007" "g.91739805C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5251G>A (p.V1751I), CCDC88C(NM_001080414.4):c.5251G>A (p.V1751I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91273461C>T" "" "VUS" "" "0000272823" "0" "30" "14" "91739150" "91739150" "subst" "0.000642334" "01943" "CCDC88C_000003" "g.91739150G>A" "" "" "" "CCDC88C(NM_001080414.3):c.5906C>T (p.P1969L), CCDC88C(NM_001080414.4):c.5906C>T (p.P1969L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91272806G>A" "" "likely benign" "" "0000272824" "0" "30" "14" "91806262" "91806262" "subst" "0.000449128" "01943" "CCDC88C_000046" "g.91806262C>T" "" "" "" "CCDC88C(NM_001080414.3):c.590G>A (p.R197Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91339918C>T" "" "likely benign" "" "0000272825" "0" "30" "14" "91739129" "91739129" "subst" "0.000762903" "01943" "CCDC88C_000002" "g.91739129C>G" "" "" "" "CCDC88C(NM_001080414.3):c.5927G>C (p.G1976A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91272785C>G" "" "likely benign" "" "0000272826" "0" "50" "14" "91806244" "91806244" "subst" "0" "01943" "CCDC88C_000045" "g.91806244C>T" "" "" "" "CCDC88C(NM_001080414.3):c.608G>A (p.R203Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91339900C>T" "" "VUS" "" "0000272827" "0" "10" "14" "91805677" "91805677" "subst" "0.00127796" "01943" "CCDC88C_000044" "g.91805677G>C" "" "" "" "CCDC88C(NM_001080414.3):c.754C>G (p.L252V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91339333G>C" "" "benign" "" "0000272828" "0" "30" "14" "91804426" "91804426" "subst" "0.000833008" "01943" "CCDC88C_000041" "g.91804426C>A" "" "" "" "CCDC88C(NM_001080414.3):c.973G>T (p.V325L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91338082C>A" "" "likely benign" "" "0000323800" "0" "50" "14" "91739546" "91739546" "subst" "0.000130339" "01804" "CCDC88C_000005" "g.91739546C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5510G>A (p.G1837D, p.(Gly1837Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91273202C>T" "" "VUS" "" "0000323801" "0" "30" "14" "91739760" "91739760" "subst" "0.000769455" "01804" "CCDC88C_000006" "g.91739760C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5296G>A (p.(Val1766Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91273416C>T" "" "likely benign" "" "0000323802" "0" "50" "14" "91739873" "91739873" "subst" "0.00165153" "01804" "CCDC88C_000008" "g.91739873A>G" "" "" "" "CCDC88C(NM_001080414.3):c.5183T>C (p.F1728S, p.(Phe1728Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91273529A>G" "" "VUS" "" "0000323804" "0" "50" "14" "91755457" "91755457" "subst" "0.0014087" "01804" "CCDC88C_000015" "g.91755457A>G" "" "" "" "CCDC88C(NM_001080414.3):c.4433T>C (p.V1478A, p.(Val1478Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91289113A>G" "" "VUS" "" "0000323805" "0" "30" "14" "91755478" "91755478" "subst" "8.6326E-5" "01804" "CCDC88C_000016" "g.91755478C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4412G>A (p.R1471H, p.(Arg1471His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91289134C>T" "" "likely benign" "" "0000323806" "0" "50" "14" "91755563" "91755563" "subst" "0.00200029" "01804" "CCDC88C_000017" "g.91755563C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4327G>A (p.A1443T, p.(Ala1443Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91289219C>T" "" "VUS" "" "0000323809" "0" "50" "14" "91773573" "91773573" "subst" "8.16747E-6" "01804" "CCDC88C_000028" "g.91773573A>G" "" "" "" "CCDC88C(NM_001080414.3):c.3007-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91307229A>G" "" "VUS" "" "0000323810" "0" "50" "14" "91776264" "91776264" "subst" "5.06167E-5" "01804" "CCDC88C_000029" "g.91776264G>C" "" "" "" "CCDC88C(NM_001080414.3):c.2803C>G (p.(Leu935Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91309920G>C" "" "VUS" "" "0000323812" "0" "50" "14" "91780011" "91780011" "subst" "2.04132E-5" "01804" "CCDC88C_000033" "g.91780011G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2149C>T (p.(Arg717Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91313667G>A" "" "VUS" "" "0000323815" "0" "50" "14" "91875067" "91875067" "subst" "8.12249E-6" "01804" "CCDC88C_000050" "g.91875067T>C" "" "" "" "CCDC88C(NM_001080414.3):c.206A>G (p.(Asn69Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91408723T>C" "" "VUS" "" "0000553307" "0" "30" "14" "91739029" "91739029" "subst" "0.00192932" "01943" "CCDC88C_000054" "g.91739029C>T" "" "" "" "CCDC88C(NM_001080414.3):c.6027G>A (p.P2009=), CCDC88C(NM_001080414.4):c.6027G>A (p.P2009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272685C>T" "" "likely benign" "" "0000553308" "0" "50" "14" "91739030" "91739030" "subst" "0.000588707" "01943" "CCDC88C_000055" "g.91739030G>A" "" "" "" "CCDC88C(NM_001080414.3):c.6026C>T (p.P2009L), CCDC88C(NM_001080414.4):c.6026C>T (p.(Pro2009Leu), p.P2009L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272686G>A" "" "VUS" "" "0000553309" "0" "30" "14" "91739046" "91739046" "subst" "0.000116965" "01943" "CCDC88C_000056" "g.91739046C>T" "" "" "" "CCDC88C(NM_001080414.3):c.6010G>A (p.V2004I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272702C>T" "" "likely benign" "" "0000553312" "0" "50" "14" "91739220" "91739220" "subst" "5.4277E-5" "01943" "CCDC88C_000059" "g.91739220G>A" "" "" "" "CCDC88C(NM_001080414.3):c.5836C>T (p.R1946C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272876G>A" "" "VUS" "" "0000553314" "0" "30" "14" "91739557" "91739557" "subst" "0" "01943" "CCDC88C_000061" "g.91739557C>A" "" "" "" "CCDC88C(NM_001080414.3):c.5499G>T (p.E1833D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273213C>A" "" "likely benign" "" "0000553315" "0" "30" "14" "91739660" "91739660" "subst" "0" "01943" "CCDC88C_000062" "g.91739660G>T" "" "" "" "CCDC88C(NM_001080414.3):c.5396C>A (p.A1799D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273316G>T" "" "likely benign" "" "0000553316" "0" "30" "14" "91739669" "91739669" "subst" "0.000109897" "01943" "CCDC88C_000063" "g.91739669C>A" "" "" "" "CCDC88C(NM_001080414.3):c.5387G>T (p.S1796I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273325C>A" "" "likely benign" "" "0000553317" "0" "50" "14" "91739713" "91739756" "del" "0" "01943" "CCDC88C_000064" "g.91739713_91739756del" "" "" "" "CCDC88C(NM_001080414.3):c.5305_5348del (p.R1769Afs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273369_91273412del" "" "VUS" "" "0000553318" "0" "50" "14" "91739814" "91739814" "subst" "0.000548551" "01943" "CCDC88C_000065" "g.91739814C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5242G>A (p.G1748R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273470C>T" "" "VUS" "" "0000553319" "0" "50" "14" "91739855" "91739855" "subst" "0" "01943" "CCDC88C_000066" "g.91739855T>C" "" "" "" "CCDC88C(NM_001080414.3):c.5201A>G (p.K1734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273511T>C" "" "VUS" "" "0000553320" "0" "30" "14" "91739873" "91739873" "subst" "0.00165153" "01943" "CCDC88C_000008" "g.91739873A>G" "" "" "" "CCDC88C(NM_001080414.3):c.5183T>C (p.F1728S, p.(Phe1728Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273529A>G" "" "likely benign" "" "0000553322" "0" "30" "14" "91755457" "91755457" "subst" "0.0014087" "01943" "CCDC88C_000015" "g.91755457A>G" "" "" "" "CCDC88C(NM_001080414.3):c.4433T>C (p.V1478A, p.(Val1478Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91289113A>G" "" "likely benign" "" "0000553323" "0" "30" "14" "91755478" "91755478" "subst" "8.6326E-5" "01943" "CCDC88C_000016" "g.91755478C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4412G>A (p.R1471H, p.(Arg1471His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91289134C>T" "" "likely benign" "" "0000553324" "0" "30" "14" "91755563" "91755563" "subst" "0.00200029" "01943" "CCDC88C_000017" "g.91755563C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4327G>A (p.A1443T, p.(Ala1443Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91289219C>T" "" "likely benign" "" "0000553325" "0" "30" "14" "91755625" "91755625" "subst" "0.00358496" "01804" "CCDC88C_000068" "g.91755625G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4265C>T (p.S1422L, p.(Ser1422Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91289281G>A" "" "likely benign" "" "0000553326" "0" "30" "14" "91760648" "91760648" "subst" "0.000516189" "01943" "CCDC88C_000069" "g.91760648G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3981C>T (p.L1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91294304G>A" "" "likely benign" "" "0000553328" "0" "10" "14" "91763787" "91763787" "subst" "0.000785021" "01943" "CCDC88C_000071" "g.91763787G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3828C>T (p.H1276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91297443G>A" "" "benign" "" "0000553329" "0" "30" "14" "91763799" "91763799" "subst" "2.75015E-5" "01943" "CCDC88C_000072" "g.91763799G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3816C>T (p.Y1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91297455G>A" "" "likely benign" "" "0000553330" "0" "30" "14" "91766410" "91766410" "subst" "0.000974792" "01943" "CCDC88C_000073" "g.91766410C>T" "" "" "" "CCDC88C(NM_001080414.3):c.3640G>A (p.G1214S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91300066C>T" "" "likely benign" "" "0000553331" "0" "70" "14" "91770262" "91770262" "subst" "0" "02325" "CCDC88C_000074" "g.91770262G>A" "" "" "" "CCDC88C(NM_001080414.4):c.3418C>T (p.Q1140*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91303918G>A" "" "likely pathogenic" "" "0000553332" "0" "30" "14" "91772204" "91772204" "subst" "8.93706E-5" "01804" "CCDC88C_000075" "g.91772204C>T" "" "" "" "CCDC88C(NM_001080414.3):c.3262G>A (p.(Val1088Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91305860C>T" "" "likely benign" "" "0000553333" "0" "30" "14" "91772264" "91772264" "subst" "0.00166591" "01804" "CCDC88C_000026" "g.91772264C>A" "" "" "" "CCDC88C(NM_001080414.3):c.3202G>T (p.A1068S, p.(Ala1068Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91305920C>A" "" "likely benign" "" "0000553334" "0" "10" "14" "91773494" "91773494" "subst" "0.159609" "02325" "CCDC88C_000076" "g.91773494G>A" "" "" "" "CCDC88C(NM_001080414.4):c.3083C>T (p.A1028V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91307150G>A" "" "benign" "" "0000553335" "0" "30" "14" "91773537" "91773537" "subst" "0" "01943" "CCDC88C_000077" "g.91773537G>C" "" "" "" "CCDC88C(NM_001080414.3):c.3040C>G (p.Q1014E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91307193G>C" "" "likely benign" "" "0000553336" "0" "30" "14" "91779548" "91779548" "subst" "0.000633889" "01943" "CCDC88C_000078" "g.91779548G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2612C>T (p.A871V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313204G>A" "" "likely benign" "" "0000553337" "0" "30" "14" "91779568" "91779568" "subst" "4.06204E-5" "01943" "CCDC88C_000079" "g.91779568G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2592C>T (p.A864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313224G>A" "" "likely benign" "" "0000553338" "0" "30" "14" "91779570" "91779570" "subst" "4.06217E-5" "01943" "CCDC88C_000080" "g.91779570C>T" "" "" "" "CCDC88C(NM_001080414.3):c.2590G>A (p.A864T), CCDC88C(NM_001080414.4):c.2590G>A (p.(Ala864Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313226C>T" "" "likely benign" "" "0000553339" "0" "50" "14" "91779704" "91779704" "subst" "0.00108732" "01943" "CCDC88C_000081" "g.91779704T>C" "" "" "" "CCDC88C(NM_001080414.3):c.2456A>G (p.D819G), CCDC88C(NM_001080414.4):c.2456A>G (p.D819G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313360T>C" "" "VUS" "" "0000553340" "0" "50" "14" "91779774" "91779774" "subst" "0.000334843" "01943" "CCDC88C_000082" "g.91779774G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2386C>T (p.R796C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313430G>A" "" "VUS" "" "0000553341" "0" "50" "14" "91779885" "91779885" "subst" "0.00033318" "01943" "CCDC88C_000083" "g.91779885G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2275C>T (p.L759F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313541G>A" "" "VUS" "" "0000553342" "0" "30" "14" "91779979" "91779979" "subst" "0.000179334" "01943" "CCDC88C_000084" "g.91779979C>T" "" "" "" "CCDC88C(NM_001080414.3):c.2181G>A (p.E727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313635C>T" "" "likely benign" "" "0000553343" "0" "30" "14" "91780176" "91780176" "subst" "2.09398E-5" "01943" "CCDC88C_000085" "g.91780176C>T" "" "" "" "CCDC88C(NM_001080414.3):c.1984G>A (p.E662K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313832C>T" "" "likely benign" "" "0000553344" "0" "30" "14" "91780244" "91780244" "subst" "1.22723E-5" "01804" "CCDC88C_000086" "g.91780244C>T" "" "" "" "CCDC88C(NM_001080414.3):c.1916G>A (p.(Arg639Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313900C>T" "" "likely benign" "" "0000553345" "0" "50" "14" "91780282" "91780282" "subst" "0.00113858" "01943" "CCDC88C_000087" "g.91780282C>G" "" "" "" "CCDC88C(NM_001080414.3):c.1878G>C (p.K626N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91313938C>G" "" "VUS" "" "0000553347" "0" "50" "14" "91780445" "91780445" "subst" "0.000354844" "01943" "CCDC88C_000035" "g.91780445G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91314101G>A" "" "VUS" "" "0000553348" "0" "50" "14" "91780445" "91780445" "subst" "0.000354844" "01804" "CCDC88C_000035" "g.91780445G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1715C>T (p.S572L, p.(Ser572Leu)), CCDC88C(NM_001080414.4):c.1715C>T (p.S572L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91314101G>A" "" "VUS" "" "0000553349" "0" "30" "14" "91780499" "91780499" "subst" "0.00011641" "01943" "CCDC88C_000089" "g.91780499G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1666-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91314155G>A" "" "likely benign" "" "0000553351" "0" "30" "14" "91787456" "91787456" "subst" "0.000579438" "01943" "CCDC88C_000091" "g.91787456C>T" "" "" "" "CCDC88C(NM_001080414.3):c.1527+8G>A, CCDC88C(NM_001080414.4):c.1527+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91321112C>T" "" "likely benign" "" "0000553352" "0" "50" "14" "91804428" "91804428" "subst" "3.65711E-5" "01943" "CCDC88C_000042" "g.91804428C>T" "" "" "" "CCDC88C(NM_001080414.3):c.971G>A (p.R324H), CCDC88C(NM_001080414.4):c.971G>A (p.R324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338084C>T" "" "VUS" "" "0000553353" "0" "30" "14" "91804430" "91804430" "subst" "0.000572961" "01943" "CCDC88C_000092" "g.91804430G>A" "" "" "" "CCDC88C(NM_001080414.3):c.969C>T (p.N323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338086G>A" "" "likely benign" "" "0000553354" "0" "50" "14" "91804474" "91804474" "subst" "4.87781E-5" "01804" "CCDC88C_000093" "g.91804474G>A" "" "" "" "CCDC88C(NM_001080414.3):c.925C>T (p.(Arg309Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338130G>A" "" "VUS" "" "0000553355" "0" "10" "14" "91804493" "91804493" "subst" "0.00125755" "01943" "CCDC88C_000094" "g.91804493C>T" "" "" "" "CCDC88C(NM_001080414.3):c.906G>A (p.A302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338149C>T" "" "benign" "" "0000553356" "0" "30" "14" "91804825" "91804825" "subst" "0.000559195" "01943" "CCDC88C_000095" "g.91804825C>T" "" "" "" "CCDC88C(NM_001080414.3):c.891+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338481C>T" "" "likely benign" "" "0000553357" "0" "30" "14" "91804825" "91804825" "subst" "0.000559195" "01804" "CCDC88C_000095" "g.91804825C>T" "" "" "" "CCDC88C(NM_001080414.3):c.891+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338481C>T" "" "likely benign" "" "0000553358" "0" "50" "14" "91804903" "91804903" "subst" "0" "01804" "CCDC88C_000096" "g.91804903G>A" "" "" "" "CCDC88C(NM_001080414.3):c.821C>T (p.(Thr274Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338559G>A" "" "VUS" "" "0000553360" "0" "30" "14" "91806314" "91806314" "subst" "2.23774E-5" "01943" "CCDC88C_000098" "g.91806314C>T" "" "" "" "CCDC88C(NM_001080414.3):c.538G>A (p.V180M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91339970C>T" "" "likely benign" "" "0000553361" "0" "30" "14" "91808812" "91808812" "subst" "0.000448677" "01943" "CCDC88C_000099" "g.91808812G>A" "" "" "" "CCDC88C(NM_001080414.3):c.400-5C>T, CCDC88C(NM_001080414.4):c.400-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91342468G>A" "" "likely benign" "" "0000553362" "0" "50" "14" "91826004" "91826004" "subst" "0.000214985" "01943" "CCDC88C_000100" "g.91826004C>T" "" "" "" "CCDC88C(NM_001080414.3):c.322G>A (p.G108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91359660C>T" "" "VUS" "" "0000553363" "0" "30" "14" "91875074" "91875074" "subst" "1.6245E-5" "01804" "CCDC88C_000101" "g.91875074C>T" "" "" "" "CCDC88C(NM_001080414.3):c.199G>A (p.(Val67Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91408730C>T" "" "likely benign" "" "0000615129" "0" "30" "14" "91739178" "91739178" "subst" "0" "01804" "CCDC88C_000102" "g.91739178G>A" "" "" "" "CCDC88C(NM_001080414.3):c.5878C>T (p.(Leu1960Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272834G>A" "" "likely benign" "" "0000615130" "0" "90" "14" "91739508" "91739508" "dup" "0" "02327" "CCDC88C_000103" "g.91739508dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273164dup" "" "pathogenic" "" "0000615131" "0" "50" "14" "91780344" "91780344" "subst" "0" "02325" "CCDC88C_000105" "g.91780344G>A" "" "" "" "CCDC88C(NM_001080414.4):c.1816C>T (p.L606F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91314000G>A" "" "VUS" "" "0000615132" "0" "50" "14" "91806245" "91806245" "subst" "2.96235E-5" "02326" "CCDC88C_000106" "g.91806245G>A" "" "" "" "CCDC88C(NM_001080414.4):c.607C>T (p.R203W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91339901G>A" "" "VUS" "" "0000623179" "0" "30" "14" "91772206" "91772206" "subst" "0.0002884" "01943" "CCDC88C_000104" "g.91772206T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3260A>G (p.N1087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91305862T>C" "" "likely benign" "" "0000648997" "1" "10" "14" "91739402" "91739402" "subst" "0.000562859" "03575" "CCDC88C_000107" "g.91739402C>T" "5/2763 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs61742126}" "Germline" "" "rs61742126" "0" "" "" "g.91273058C>T" "" "benign" "" "0000648998" "1" "50" "14" "91739969" "91739969" "subst" "0.00227492" "03575" "CCDC88C_000009" "g.91739969A>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs77154172}" "Germline" "" "rs77154172" "0" "" "" "g.91273625A>G" "" "VUS" "" "0000648999" "1" "50" "14" "91763720" "91763720" "subst" "0.00448033" "03575" "CCDC88C_000022" "g.91763720G>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs142539336}" "Germline" "" "rs142539336" "0" "" "" "g.91297376G>A" "" "VUS" "" "0000649000" "1" "50" "14" "91780282" "91780282" "subst" "0.00113858" "03575" "CCDC88C_000087" "g.91780282C>G" "8/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs78468999}" "Germline" "" "rs78468999" "0" "" "" "g.91313938C>G" "" "VUS" "" "0000657507" "0" "30" "14" "91739149" "91739149" "subst" "3.51593E-5" "01943" "CCDC88C_000108" "g.91739149C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5907G>A (p.P1969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91272805C>T" "" "likely benign" "" "0000657508" "0" "50" "14" "91739546" "91739546" "subst" "0.000130339" "01943" "CCDC88C_000005" "g.91739546C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5510G>A (p.G1837D, p.(Gly1837Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91273202C>T" "" "VUS" "" "0000657509" "0" "30" "14" "91744372" "91744372" "subst" "0" "01804" "CCDC88C_000109" "g.91744372G>C" "" "" "" "CCDC88C(NM_001080414.3):c.4952C>G (p.(Thr1651Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91278028G>C" "" "likely benign" "" "0000657510" "0" "30" "14" "91763722" "91763722" "subst" "1.63412E-5" "01943" "CCDC88C_000110" "g.91763722G>C" "" "" "" "CCDC88C(NM_001080414.3):c.3893C>G (p.A1298G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91297378G>C" "" "likely benign" "" "0000657511" "0" "50" "14" "91804441" "91804441" "subst" "0" "02325" "CCDC88C_000111" "g.91804441C>G" "" "" "" "CCDC88C(NM_001080414.4):c.958G>C (p.E320Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91338097C>G" "" "VUS" "" "0000657512" "0" "30" "14" "91806318" "91806318" "subst" "0.00017346" "01943" "CCDC88C_000112" "g.91806318G>A" "" "" "" "CCDC88C(NM_001080414.3):c.534C>T (p.P178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91339974G>A" "" "likely benign" "" "0000680075" "0" "50" "14" "91766373" "91766373" "subst" "2.15532E-5" "02325" "CCDC88C_000113" "g.91766373C>T" "" "" "" "CCDC88C(NM_001080414.4):c.3677G>A (p.R1226Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680076" "0" "50" "14" "91770310" "91770310" "subst" "5.02134E-5" "01943" "CCDC88C_000114" "g.91770310T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3370A>G (p.T1124A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680077" "0" "50" "14" "91779704" "91779704" "subst" "0.00108732" "02325" "CCDC88C_000081" "g.91779704T>C" "" "" "" "CCDC88C(NM_001080414.3):c.2456A>G (p.D819G), CCDC88C(NM_001080414.4):c.2456A>G (p.D819G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691730" "0" "30" "14" "91755603" "91755603" "subst" "0.00429643" "02326" "CCDC88C_000018" "g.91755603G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4287C>T (p.T1429=), CCDC88C(NM_001080414.4):c.4287C>T (p.T1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691731" "0" "30" "14" "91804386" "91804386" "subst" "0" "01943" "CCDC88C_000115" "g.91804386T>C" "" "" "" "CCDC88C(NM_001080414.3):c.1013A>G (p.K338R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724912" "0" "50" "14" "91739862" "91739862" "subst" "0" "01943" "CCDC88C_000116" "g.91739862T>C" "" "" "" "CCDC88C(NM_001080414.3):c.5194A>G (p.T1732A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724913" "0" "30" "14" "91755465" "91755465" "subst" "8.24035E-6" "01943" "CCDC88C_000117" "g.91755465G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4425C>T (p.N1475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724914" "0" "50" "14" "91804399" "91804399" "subst" "1.6266E-5" "01943" "CCDC88C_000118" "g.91804399G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1000C>T (p.R334C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724915" "0" "50" "14" "91883082" "91883082" "subst" "0" "02329" "CCDC88C_000051" "g.91883082A>C" "" "" "" "CCDC88C(NM_001080414.3):c.161T>G (p.I54R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806533" "0" "50" "14" "91739030" "91739030" "subst" "0.000588707" "02325" "CCDC88C_000055" "g.91739030G>A" "" "" "" "CCDC88C(NM_001080414.3):c.6026C>T (p.P2009L), CCDC88C(NM_001080414.4):c.6026C>T (p.(Pro2009Leu), p.P2009L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806534" "0" "30" "14" "91755625" "91755625" "subst" "0.00358496" "01943" "CCDC88C_000068" "g.91755625G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4265C>T (p.S1422L, p.(Ser1422Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806535" "0" "50" "14" "91770084" "91770084" "subst" "0.000100357" "01943" "CCDC88C_000119" "g.91770084T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3596A>G (p.H1199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806536" "0" "30" "14" "91805665" "91805665" "subst" "0.00244526" "01943" "CCDC88C_000120" "g.91805665G>A" "" "" "" "CCDC88C(NM_001080414.3):c.766C>T (p.L256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806537" "0" "30" "14" "91808812" "91808812" "subst" "0.000448677" "02325" "CCDC88C_000099" "g.91808812G>A" "" "" "" "CCDC88C(NM_001080414.3):c.400-5C>T, CCDC88C(NM_001080414.4):c.400-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806538" "0" "30" "14" "91809970" "91809970" "subst" "0.000670481" "01943" "CCDC88C_000121" "g.91809970C>T" "" "" "" "CCDC88C(NM_001080414.3):c.372G>A (p.L124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806539" "0" "30" "14" "91875119" "91875119" "subst" "8.16173E-6" "01943" "CCDC88C_000122" "g.91875119A>G" "" "" "" "CCDC88C(NM_001080414.3):c.162-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853917" "0" "30" "14" "91739122" "91739122" "subst" "0.000416748" "01943" "CCDC88C_000124" "g.91739122C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5934G>A (p.P1978=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853918" "0" "30" "14" "91755506" "91755506" "subst" "0.000332215" "01943" "CCDC88C_000125" "g.91755506C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4384G>A (p.A1462T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853919" "0" "30" "14" "91766387" "91766387" "subst" "0.000140753" "01943" "CCDC88C_000128" "g.91766387C>T" "" "" "" "CCDC88C(NM_001080414.3):c.3663G>A (p.A1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853920" "0" "50" "14" "91806263" "91806263" "subst" "0" "02325" "CCDC88C_000130" "g.91806263G>A" "" "" "" "CCDC88C(NM_001080414.4):c.589C>T (p.R197W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863707" "0" "30" "14" "91739013" "91739013" "subst" "0.000464144" "01943" "CCDC88C_000123" "g.91739013C>T" "" "" "" "CCDC88C(NM_001080414.3):c.6043G>A (p.G2015S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863708" "0" "30" "14" "91739029" "91739029" "subst" "0.00192932" "02326" "CCDC88C_000054" "g.91739029C>T" "" "" "" "CCDC88C(NM_001080414.3):c.6027G>A (p.P2009=), CCDC88C(NM_001080414.4):c.6027G>A (p.P2009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863709" "0" "50" "14" "91760640" "91760640" "subst" "8.12427E-6" "01943" "CCDC88C_000126" "g.91760640T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3989A>G (p.N1330S), CCDC88C(NM_001080414.4):c.3989A>G (p.(Asn1330Ser), p.N1330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863710" "0" "30" "14" "91763711" "91763711" "subst" "8.15395E-6" "01943" "CCDC88C_000127" "g.91763711C>T" "" "" "" "CCDC88C(NM_001080414.3):c.3904G>A (p.E1302K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863711" "0" "30" "14" "91805672" "91805672" "subst" "0.000359283" "01943" "CCDC88C_000129" "g.91805672G>A" "" "" "" "CCDC88C(NM_001080414.3):c.759C>T (p.A253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891930" "0" "30" "14" "91739150" "91739150" "subst" "0.000642334" "02326" "CCDC88C_000003" "g.91739150G>A" "" "" "" "CCDC88C(NM_001080414.3):c.5906C>T (p.P1969L), CCDC88C(NM_001080414.4):c.5906C>T (p.P1969L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891931" "0" "50" "14" "91739477" "91739477" "subst" "0" "02325" "CCDC88C_000131" "g.91739477C>T" "" "" "" "CCDC88C(NM_001080414.4):c.5579G>A (p.R1860Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891932" "0" "50" "14" "91739805" "91739805" "subst" "0.00116262" "02325" "CCDC88C_000007" "g.91739805C>T" "" "" "" "CCDC88C(NM_001080414.3):c.5251G>A (p.V1751I), CCDC88C(NM_001080414.4):c.5251G>A (p.V1751I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891933" "0" "50" "14" "91770153" "91770153" "subst" "0.000130428" "02325" "CCDC88C_000132" "g.91770153G>A" "" "" "" "CCDC88C(NM_001080414.4):c.3527C>T (p.T1176M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891934" "0" "10" "14" "91805611" "91805611" "subst" "0.00309777" "02326" "CCDC88C_000133" "g.91805611C>T" "" "" "" "CCDC88C(NM_001080414.4):c.809+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914246" "0" "30" "14" "91739969" "91739969" "subst" "0.00227492" "02326" "CCDC88C_000009" "g.91739969A>G" "" "" "" "CCDC88C(NM_001080414.3):c.5087T>C (p.L1696P), CCDC88C(NM_001080414.4):c.5087T>C (p.L1696P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914247" "0" "50" "14" "91760640" "91760640" "subst" "8.12427E-6" "02325" "CCDC88C_000126" "g.91760640T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3989A>G (p.N1330S), CCDC88C(NM_001080414.4):c.3989A>G (p.(Asn1330Ser), p.N1330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914248" "0" "50" "14" "91780031" "91780031" "subst" "0.000110322" "02325" "CCDC88C_000134" "g.91780031C>T" "" "" "" "CCDC88C(NM_001080414.4):c.2129G>A (p.R710H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925926" "0" "30" "14" "91749682" "91749682" "subst" "0.001186" "02326" "CCDC88C_000135" "g.91749682G>A" "" "" "" "CCDC88C(NM_001080414.4):c.4621C>T (p.R1541C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925927" "0" "50" "14" "91779905" "91779905" "subst" "0.000450078" "02325" "CCDC88C_000136" "g.91779905T>C" "" "" "" "CCDC88C(NM_001080414.3):c.2255A>G (p.(Lys752Arg)), CCDC88C(NM_001080414.4):c.2255A>G (p.K752R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925928" "0" "50" "14" "91804482" "91804482" "subst" "1.62718E-5" "02325" "CCDC88C_000137" "g.91804482C>T" "" "" "" "CCDC88C(NM_001080414.3):c.917G>A (p.(Arg306Gln)), CCDC88C(NM_001080414.4):c.917G>A (p.R306Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967601" "0" "50" "14" "91739616" "91739616" "subst" "0" "02325" "CCDC88C_000138" "g.91739616G>A" "" "" "" "CCDC88C(NM_001080414.4):c.5440C>T (p.R1814W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967605" "0" "30" "14" "91804340" "91804340" "subst" "8.65009E-5" "02326" "CCDC88C_000037" "g.91804340G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1050+9C>T, CCDC88C(NM_001080414.4):c.1050+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981054" "0" "50" "14" "91739024" "91739024" "subst" "0.000108558" "01804" "CCDC88C_000141" "g.91739024G>C" "" "" "" "CCDC88C(NM_001080414.4):c.6032C>G (p.(Ser2011Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981055" "0" "50" "14" "91772099" "91772099" "subst" "4.12004E-6" "01804" "CCDC88C_000142" "g.91772099C>T" "" "" "" "CCDC88C(NM_001080414.4):c.3357+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981056" "0" "50" "14" "91773407" "91773407" "subst" "4.48829E-5" "01804" "CCDC88C_000143" "g.91773407T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3170A>G (p.(Asp1057Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981057" "0" "50" "14" "91779570" "91779570" "subst" "4.06217E-5" "01804" "CCDC88C_000080" "g.91779570C>T" "" "" "" "CCDC88C(NM_001080414.3):c.2590G>A (p.A864T), CCDC88C(NM_001080414.4):c.2590G>A (p.(Ala864Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981058" "0" "30" "14" "91787456" "91787456" "subst" "0.000579438" "01804" "CCDC88C_000091" "g.91787456C>T" "" "" "" "CCDC88C(NM_001080414.3):c.1527+8G>A, CCDC88C(NM_001080414.4):c.1527+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981059" "0" "30" "14" "91805814" "91805814" "subst" "1.70554E-5" "01804" "CCDC88C_000144" "g.91805814C>T" "" "" "" "CCDC88C(NM_001080414.4):c.625-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981060" "0" "50" "14" "91806286" "91806286" "subst" "6.9476E-5" "01804" "CCDC88C_000145" "g.91806286G>A" "" "" "" "CCDC88C(NM_001080414.4):c.566C>T (p.(Ser189Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001183" "0" "30" "14" "91739486" "91739486" "subst" "0" "01804" "CCDC88C_000146" "g.91739486G>A" "" "" "" "CCDC88C(NM_001080414.3):c.5570C>T (p.(Ala1857Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001184" "0" "30" "14" "91744393" "91744393" "subst" "0" "01804" "CCDC88C_000147" "g.91744393T>A" "" "" "" "CCDC88C(NM_001080414.3):c.4931A>T (p.(Glu1644Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001185" "0" "30" "14" "91745643" "91745643" "subst" "0.00262043" "02326" "CCDC88C_000013" "g.91745643C>T" "" "" "" "CCDC88C(NM_001080414.3):c.4707G>A (p.R1569=), CCDC88C(NM_001080414.4):c.4707G>A (p.R1569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001186" "0" "30" "14" "91745645" "91745645" "subst" "0" "01804" "CCDC88C_000148" "g.91745645G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4705C>T (p.(Arg1569Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001187" "0" "50" "14" "91747827" "91747827" "subst" "0.000377668" "01804" "CCDC88C_000149" "g.91747827A>G" "" "" "" "CCDC88C(NM_001080414.3):c.4673T>C (p.(Phe1558Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001188" "0" "50" "14" "91763667" "91763667" "subst" "4.08463E-6" "01804" "CCDC88C_000150" "g.91763667C>G" "" "" "" "CCDC88C(NM_001080414.3):c.3948G>C (p.(Lys1316Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001189" "0" "50" "14" "91766338" "91766338" "subst" "0" "02325" "CCDC88C_000151" "g.91766338G>C" "" "" "" "CCDC88C(NM_001080414.4):c.3712C>G (p.Q1238E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001190" "0" "30" "14" "91766394" "91766394" "subst" "0" "01804" "CCDC88C_000152" "g.91766394C>T" "" "" "" "CCDC88C(NM_001080414.3):c.3656G>A (p.(Arg1219His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001191" "0" "50" "14" "91773387" "91773387" "subst" "0" "01804" "CCDC88C_000153" "g.91773387G>A" "" "" "" "CCDC88C(NM_001080414.3):c.3190C>T (p.(Arg1064Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001192" "0" "50" "14" "91773549" "91773549" "subst" "0.000487912" "02325" "CCDC88C_000154" "g.91773549G>A" "" "" "" "CCDC88C(NM_001080414.4):c.3028C>T (p.L1010F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001193" "0" "30" "14" "91779638" "91779638" "subst" "7.71956E-5" "01804" "CCDC88C_000155" "g.91779638G>A" "" "" "" "CCDC88C(NM_001080414.3):c.2522C>T (p.(Ala841Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001194" "0" "30" "14" "91779726" "91779726" "subst" "8.28775E-6" "01804" "CCDC88C_000156" "g.91779726G>C" "" "" "" "CCDC88C(NM_001080414.3):c.2434C>G (p.(Gln812Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001195" "0" "50" "14" "91779905" "91779905" "subst" "0.000450078" "01804" "CCDC88C_000136" "g.91779905T>C" "" "" "" "CCDC88C(NM_001080414.3):c.2255A>G (p.(Lys752Arg)), CCDC88C(NM_001080414.4):c.2255A>G (p.K752R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001196" "0" "30" "14" "91792325" "91792325" "subst" "4.27712E-5" "01804" "CCDC88C_000157" "g.91792325G>A" "" "" "" "CCDC88C(NM_001080414.3):c.1126C>T (p.(Arg376Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001197" "0" "50" "14" "91804482" "91804482" "subst" "1.62718E-5" "01804" "CCDC88C_000137" "g.91804482C>T" "" "" "" "CCDC88C(NM_001080414.3):c.917G>A (p.(Arg306Gln)), CCDC88C(NM_001080414.4):c.917G>A (p.R306Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001198" "0" "50" "14" "91875045" "91875045" "subst" "0" "01804" "CCDC88C_000158" "g.91875045C>G" "" "" "" "CCDC88C(NM_001080414.3):c.228G>C (p.(Gln76His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015180" "0" "50" "14" "91739252" "91739252" "subst" "0" "02325" "CCDC88C_000159" "g.91739252G>A" "" "" "" "CCDC88C(NM_001080414.4):c.5804C>T (p.P1935L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015181" "0" "30" "14" "91779547" "91779547" "subst" "1.21903E-5" "02326" "CCDC88C_000160" "g.91779547C>T" "" "" "" "CCDC88C(NM_001080414.4):c.2613G>A (p.A871=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015182" "0" "50" "14" "91779758" "91779758" "subst" "0.000122514" "02325" "CCDC88C_000161" "g.91779758C>T" "" "" "" "CCDC88C(NM_001080414.4):c.2402G>A (p.R801Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026409" "0" "50" "14" "91779618" "91779618" "subst" "4.06184E-6" "02325" "CCDC88C_000162" "g.91779618C>T" "" "" "" "CCDC88C(NM_001080414.4):c.2542G>A (p.V848M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026410" "0" "50" "14" "91806251" "91806251" "subst" "4.40533E-5" "02325" "CCDC88C_000163" "g.91806251C>T" "" "" "" "CCDC88C(NM_001080414.4):c.601G>A (p.D201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040143" "0" "50" "14" "91739030" "91739030" "subst" "0.000588707" "01804" "CCDC88C_000055" "g.91739030G>A" "" "" "" "CCDC88C(NM_001080414.3):c.6026C>T (p.P2009L), CCDC88C(NM_001080414.4):c.6026C>T (p.(Pro2009Leu), p.P2009L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040144" "0" "70" "14" "91739781" "91739782" "del" "0" "01804" "CCDC88C_000164" "g.91739781_91739782del" "" "" "" "CCDC88C(NM_001080414.4):c.5274_5275del (p.(Glu1759Glyfs*52))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040145" "0" "30" "14" "91739990" "91739990" "subst" "6.33738E-6" "01804" "CCDC88C_000165" "g.91739990G>C" "" "" "" "CCDC88C(NM_001080414.4):c.5066C>G (p.(Pro1689Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040146" "0" "50" "14" "91760640" "91760640" "subst" "8.12427E-6" "01804" "CCDC88C_000126" "g.91760640T>C" "" "" "" "CCDC88C(NM_001080414.3):c.3989A>G (p.N1330S), CCDC88C(NM_001080414.4):c.3989A>G (p.(Asn1330Ser), p.N1330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040147" "0" "30" "14" "91780042" "91780042" "subst" "3.68167E-5" "02326" "CCDC88C_000166" "g.91780042G>A" "" "" "" "CCDC88C(NM_001080414.4):c.2118C>T (p.N706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040148" "0" "70" "14" "91782095" "91782095" "subst" "0" "01804" "CCDC88C_000167" "g.91782095G>A" "" "" "" "CCDC88C(NM_001080414.4):c.1564C>T (p.(Gln522*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040149" "0" "30" "14" "91791273" "91791273" "dup" "0" "01804" "CCDC88C_000168" "g.91791273dup" "" "" "" "CCDC88C(NM_001080414.4):c.1198-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046484" "0" "50" "14" "91779528" "91779528" "subst" "4.88079E-5" "02325" "CCDC88C_000169" "g.91779528G>A" "" "" "" "CCDC88C(NM_001080414.4):c.2632C>T (p.R878C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066111" "0" "50" "14" "91745645" "91745645" "subst" "0" "02325" "CCDC88C_000148" "g.91745645G>A" "" "" "" "CCDC88C(NM_001080414.3):c.4705C>T (p.(Arg1569Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001089743" "3" "70" "14" "91792325" "91792325" "subst" "4.27712E-5" "00006" "CCDC88C_000157" "g.91792325G>A" "" "{PMID:Mattioli 2021:34764295}" "" "" "" "Germline" "" "" "0" "" "" "g.91325981G>A" "" "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 CCDC88C ## Count = 188 "{{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}}" "0000248824" "00004517" "10" "5975" "0" "5975" "0" "c.5975T>C" "r.(?)" "p.(Leu1992Pro)" "" "0000250554" "00004517" "50" "983" "0" "983" "0" "c.983T>G" "r.(?)" "p.(Leu328Arg)" "" "0000254335" "00004517" "30" "1065" "0" "1065" "0" "c.1065T>C" "r.(?)" "p.(Asp355=)" "" "0000255290" "00004517" "30" "271" "-9" "271" "-9" "c.271-9T>C" "r.(=)" "p.(=)" "" "0000256211" "00004517" "50" "3563" "0" "3563" "0" "c.3563T>C" "r.(?)" "p.(Leu1188Pro)" "" "0000256220" "00004517" "50" "4757" "0" "4757" "0" "c.4757T>C" "r.(?)" "p.(Leu1586Pro)" "" "0000256221" "00004517" "50" "5087" "0" "5087" "0" "c.5087T>C" "r.(?)" "p.(Leu1696Pro)" "" "0000266547" "00004517" "30" "1050" "9" "1050" "9" "c.1050+9C>T" "r.(=)" "p.(=)" "" "0000266548" "00004517" "30" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ser572Leu)" "" "0000266549" "00004517" "30" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Ala724Val)" "" "0000266550" "00004517" "30" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807Gln)" "" "0000266551" "00004517" "10" "3009" "0" "3009" "0" "c.3009A>G" "r.(?)" "p.(Leu1003=)" "" "0000266552" "00004517" "10" "3966" "12" "3966" "12" "c.3966+12G>A" "r.(=)" "p.(=)" "" "0000266553" "00004517" "10" "60" "8" "60" "8" "c.60+8C>A" "r.(=)" "p.(=)" "" "0000266554" "00004517" "10" "61" "-317" "61" "-317" "c.61-317C>T" "r.(=)" "p.(=)" "" "0000266555" "00004517" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000268057" "00004517" "50" "982" "0" "982" "0" "c.982C>G" "r.(?)" "p.(Leu328Val)" "" "0000272808" "00004517" "30" "1050" "9" "1050" "9" "c.1050+9C>T" "r.(=)" "p.(=)" "" "0000272809" "00004517" "30" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Ser763=)" "" "0000272810" "00004517" "30" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Glu91=)" "" "0000272811" "00004517" "30" "3202" "0" "3202" "0" "c.3202G>T" "r.(?)" "p.(Ala1068Ser)" "" "0000272812" "00004517" "30" "3358" "-10" "3358" "-10" "c.3358-10C>G" "r.(=)" "p.(=)" "" "0000272813" "00004517" "50" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299Cys)" "" "0000272814" "00004517" "30" "3900" "0" "3900" "0" "c.3900C>T" "r.(?)" "p.(Phe1300=)" "" "0000272815" "00004517" "50" "4198" "0" "4198" "0" "c.4198A>C" "r.(?)" "p.(Lys1400Gln)" "" "0000272816" "00004517" "10" "4287" "0" "4287" "0" "c.4287C>T" "r.(?)" "p.(Thr1429=)" "" "0000272817" "00004517" "30" "4668" "0" "4668" "0" "c.4668G>A" "r.(?)" "p.(Leu1556=)" "" "0000272818" "00004517" "30" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(Arg1569=)" "" "0000272819" "00004517" "30" "483" "8" "483" "8" "c.483+8C>T" "r.(=)" "p.(=)" "" "0000272820" "00004517" "30" "4864" "0" "4864" "0" "c.4864A>G" "r.(?)" "p.(Thr1622Ala)" "" "0000272821" "00004517" "10" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630His)" "" "0000272822" "00004517" "50" "5251" "0" "5251" "0" "c.5251G>A" "r.(?)" "p.(Val1751Ile)" "" "0000272823" "00004517" "30" "5906" "0" "5906" "0" "c.5906C>T" "r.(?)" "p.(Pro1969Leu)" "" "0000272824" "00004517" "30" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Gln)" "" "0000272825" "00004517" "30" "5927" "0" "5927" "0" "c.5927G>C" "r.(?)" "p.(Gly1976Ala)" "" "0000272826" "00004517" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203Gln)" "" "0000272827" "00004517" "10" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Leu252Val)" "" "0000272828" "00004517" "30" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Val325Leu)" "" "0000323800" "00004517" "50" "5510" "0" "5510" "0" "c.5510G>A" "r.(?)" "p.(Gly1837Asp)" "" "0000323801" "00004517" "30" "5296" "0" "5296" "0" "c.5296G>A" "r.(?)" "p.(Val1766Met)" "" "0000323802" "00004517" "50" "5183" "0" "5183" "0" "c.5183T>C" "r.(?)" "p.(Phe1728Ser)" "" "0000323804" "00004517" "50" "4433" "0" "4433" "0" "c.4433T>C" "r.(?)" "p.(Val1478Ala)" "" "0000323805" "00004517" "30" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Arg1471His)" "" "0000323806" "00004517" "50" "4327" "0" "4327" "0" "c.4327G>A" "r.(?)" "p.(Ala1443Thr)" "" "0000323809" "00004517" "50" "3007" "-3" "3007" "-3" "c.3007-3T>C" "r.spl?" "p.?" "" "0000323810" "00004517" "50" "2803" "0" "2803" "0" "c.2803C>G" "r.(?)" "p.(Leu935Val)" "" "0000323812" "00004517" "50" "2149" "0" "2149" "0" "c.2149C>T" "r.(?)" "p.(Arg717Cys)" "" "0000323815" "00004517" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Asn69Ser)" "" "0000553307" "00004517" "30" "6027" "0" "6027" "0" "c.6027G>A" "r.(?)" "p.(Pro2009=)" "" "0000553308" "00004517" "50" "6026" "0" "6026" "0" "c.6026C>T" "r.(?)" "p.(Pro2009Leu)" "" "0000553309" "00004517" "30" "6010" "0" "6010" "0" "c.6010G>A" "r.(?)" "p.(Val2004Ile)" "" "0000553312" "00004517" "50" "5836" "0" "5836" "0" "c.5836C>T" "r.(?)" "p.(Arg1946Cys)" "" "0000553314" "00004517" "30" "5499" "0" "5499" "0" "c.5499G>T" "r.(?)" "p.(Glu1833Asp)" "" "0000553315" "00004517" "30" "5396" "0" "5396" "0" "c.5396C>A" "r.(?)" "p.(Ala1799Asp)" "" "0000553316" "00004517" "30" "5387" "0" "5387" "0" "c.5387G>T" "r.(?)" "p.(Ser1796Ile)" "" "0000553317" "00004517" "50" "5305" "0" "5348" "0" "c.5305_5348del" "r.(?)" "p.(Arg1769AlafsTer28)" "" "0000553318" "00004517" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" "" "0000553319" "00004517" "50" "5201" "0" "5201" "0" "c.5201A>G" "r.(?)" "p.(Lys1734Arg)" "" "0000553320" "00004517" "30" "5183" "0" "5183" "0" "c.5183T>C" "r.(?)" "p.(Phe1728Ser)" "" "0000553322" "00004517" "30" "4433" "0" "4433" "0" "c.4433T>C" "r.(?)" "p.(Val1478Ala)" "" "0000553323" "00004517" "30" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Arg1471His)" "" "0000553324" "00004517" "30" "4327" "0" "4327" "0" "c.4327G>A" "r.(?)" "p.(Ala1443Thr)" "" "0000553325" "00004517" "30" "4265" "0" "4265" "0" "c.4265C>T" "r.(?)" "p.(Ser1422Leu)" "" "0000553326" "00004517" "30" "3981" "0" "3981" "0" "c.3981C>T" "r.(?)" "p.(Leu1327=)" "" "0000553328" "00004517" "10" "3828" "0" "3828" "0" "c.3828C>T" "r.(?)" "p.(His1276=)" "" "0000553329" "00004517" "30" "3816" "0" "3816" "0" "c.3816C>T" "r.(?)" "p.(Tyr1272=)" "" "0000553330" "00004517" "30" "3640" "0" "3640" "0" "c.3640G>A" "r.(?)" "p.(Gly1214Ser)" "" "0000553331" "00004517" "70" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Gln1140Ter)" "" "0000553332" "00004517" "30" "3262" "0" "3262" "0" "c.3262G>A" "r.(?)" "p.(Val1088Met)" "" "0000553333" "00004517" "30" "3202" "0" "3202" "0" "c.3202G>T" "r.(?)" "p.(Ala1068Ser)" "" "0000553334" "00004517" "10" "3083" "0" "3083" "0" "c.3083C>T" "r.(?)" "p.(Ala1028Val)" "" "0000553335" "00004517" "30" "3040" "0" "3040" "0" "c.3040C>G" "r.(?)" "p.(Gln1014Glu)" "" "0000553336" "00004517" "30" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "" "0000553337" "00004517" "30" "2592" "0" "2592" "0" "c.2592C>T" "r.(?)" "p.(Ala864=)" "" "0000553338" "00004517" "30" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Ala864Thr)" "" "0000553339" "00004517" "50" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Asp819Gly)" "" "0000553340" "00004517" "50" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "" "0000553341" "00004517" "50" "2275" "0" "2275" "0" "c.2275C>T" "r.(?)" "p.(Leu759Phe)" "" "0000553342" "00004517" "30" "2181" "0" "2181" "0" "c.2181G>A" "r.(?)" "p.(Glu727=)" "" "0000553343" "00004517" "30" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Glu662Lys)" "" "0000553344" "00004517" "30" "1916" "0" "1916" "0" "c.1916G>A" "r.(?)" "p.(Arg639Gln)" "" "0000553345" "00004517" "50" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Lys626Asn)" "" "0000553347" "00004517" "50" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ser572Leu)" "" "0000553348" "00004517" "50" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ser572Leu)" "" "0000553349" "00004517" "30" "1666" "-5" "1666" "-5" "c.1666-5C>T" "r.spl?" "p.?" "" "0000553351" "00004517" "30" "1527" "8" "1527" "8" "c.1527+8G>A" "r.(=)" "p.(=)" "" "0000553352" "00004517" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000553353" "00004517" "30" "969" "0" "969" "0" "c.969C>T" "r.(?)" "p.(Asn323=)" "" "0000553354" "00004517" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "0000553355" "00004517" "10" "906" "0" "906" "0" "c.906G>A" "r.(?)" "p.(Ala302=)" "" "0000553356" "00004517" "30" "891" "8" "891" "8" "c.891+8G>A" "r.(=)" "p.(=)" "" "0000553357" "00004517" "30" "891" "8" "891" "8" "c.891+8G>A" "r.(=)" "p.(=)" "" "0000553358" "00004517" "50" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Thr274Ile)" "" "0000553360" "00004517" "30" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Val180Met)" "" "0000553361" "00004517" "30" "400" "-5" "400" "-5" "c.400-5C>T" "r.spl?" "p.?" "" "0000553362" "00004517" "50" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Gly108Ser)" "" "0000553363" "00004517" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Val67Ile)" "" "0000615129" "00004517" "30" "5878" "0" "5878" "0" "c.5878C>T" "r.(?)" "p.(Leu1960Phe)" "" "0000615130" "00004517" "90" "5553" "0" "5553" "0" "c.5553dup" "r.(?)" "p.(Ser1852GlnfsTer4)" "" "0000615131" "00004517" "50" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Leu606Phe)" "" "0000615132" "00004517" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Trp)" "" "0000623179" "00004517" "30" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Asn1087Ser)" "" "0000648997" "00004517" "10" "5654" "0" "5654" "0" "c.5654G>A" "r.(?)" "p.(Arg1885His)" "" "0000648998" "00004517" "50" "5087" "0" "5087" "0" "c.5087T>C" "r.(?)" "p.(Leu1696Pro)" "" "0000648999" "00004517" "50" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Arg1299Cys)" "" "0000649000" "00004517" "50" "1878" "0" "1878" "0" "c.1878G>C" "r.(?)" "p.(Lys626Asn)" "" "0000657507" "00004517" "30" "5907" "0" "5907" "0" "c.5907G>A" "r.(?)" "p.(Pro1969=)" "" "0000657508" "00004517" "50" "5510" "0" "5510" "0" "c.5510G>A" "r.(?)" "p.(Gly1837Asp)" "" "0000657509" "00004517" "30" "4952" "0" "4952" "0" "c.4952C>G" "r.(?)" "p.(Thr1651Arg)" "" "0000657510" "00004517" "30" "3893" "0" "3893" "0" "c.3893C>G" "r.(?)" "p.(Ala1298Gly)" "" "0000657511" "00004517" "50" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Glu320Gln)" "" "0000657512" "00004517" "30" "534" "0" "534" "0" "c.534C>T" "r.(?)" "p.(Pro178=)" "" "0000680075" "00004517" "50" "3677" "0" "3677" "0" "c.3677G>A" "r.(?)" "p.(Arg1226Gln)" "" "0000680076" "00004517" "50" "3370" "0" "3370" "0" "c.3370A>G" "r.(?)" "p.(Thr1124Ala)" "" "0000680077" "00004517" "50" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Asp819Gly)" "" "0000691730" "00004517" "30" "4287" "0" "4287" "0" "c.4287C>T" "r.(?)" "p.(Thr1429=)" "" "0000691731" "00004517" "30" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.(Lys338Arg)" "" "0000724912" "00004517" "50" "5194" "0" "5194" "0" "c.5194A>G" "r.(?)" "p.(Thr1732Ala)" "" "0000724913" "00004517" "30" "4425" "0" "4425" "0" "c.4425C>T" "r.(?)" "p.(Asn1475=)" "" "0000724914" "00004517" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Cys)" "" "0000724915" "00004517" "50" "161" "0" "161" "0" "c.161T>G" "r.(?)" "p.(Ile54Arg)" "" "0000806533" "00004517" "50" "6026" "0" "6026" "0" "c.6026C>T" "r.(?)" "p.(Pro2009Leu)" "" "0000806534" "00004517" "30" "4265" "0" "4265" "0" "c.4265C>T" "r.(?)" "p.(Ser1422Leu)" "" "0000806535" "00004517" "50" "3596" "0" "3596" "0" "c.3596A>G" "r.(?)" "p.(His1199Arg)" "" "0000806536" "00004517" "30" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Leu256=)" "" "0000806537" "00004517" "30" "400" "-5" "400" "-5" "c.400-5C>T" "r.spl?" "p.?" "" "0000806538" "00004517" "30" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Leu124=)" "" "0000806539" "00004517" "30" "162" "-8" "162" "-8" "c.162-8T>C" "r.(=)" "p.(=)" "" "0000853917" "00004517" "30" "5934" "0" "5934" "0" "c.5934G>A" "r.(?)" "p.(Pro1978=)" "" "0000853918" "00004517" "30" "4384" "0" "4384" "0" "c.4384G>A" "r.(?)" "p.(Ala1462Thr)" "" "0000853919" "00004517" "30" "3663" "0" "3663" "0" "c.3663G>A" "r.(?)" "p.(Ala1221=)" "" "0000853920" "00004517" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Trp)" "" "0000863707" "00004517" "30" "6043" "0" "6043" "0" "c.6043G>A" "r.(?)" "p.(Gly2015Ser)" "" "0000863708" "00004517" "30" "6027" "0" "6027" "0" "c.6027G>A" "r.(?)" "p.(Pro2009=)" "" "0000863709" "00004517" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(Asn1330Ser)" "" "0000863710" "00004517" "30" "3904" "0" "3904" "0" "c.3904G>A" "r.(?)" "p.(Glu1302Lys)" "" "0000863711" "00004517" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Ala253=)" "" "0000891930" "00004517" "30" "5906" "0" "5906" "0" "c.5906C>T" "r.(?)" "p.(Pro1969Leu)" "" "0000891931" "00004517" "50" "5579" "0" "5579" "0" "c.5579G>A" "r.(?)" "p.(Arg1860Gln)" "" "0000891932" "00004517" "50" "5251" "0" "5251" "0" "c.5251G>A" "r.(?)" "p.(Val1751Ile)" "" "0000891933" "00004517" "50" "3527" "0" "3527" "0" "c.3527C>T" "r.(?)" "p.(Thr1176Met)" "" "0000891934" "00004517" "10" "809" "11" "809" "11" "c.809+11G>A" "r.(=)" "p.(=)" "" "0000914246" "00004517" "30" "5087" "0" "5087" "0" "c.5087T>C" "r.(?)" "p.(Leu1696Pro)" "" "0000914247" "00004517" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(Asn1330Ser)" "" "0000914248" "00004517" "50" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710His)" "" "0000925926" "00004517" "30" "4621" "0" "4621" "0" "c.4621C>T" "r.(?)" "p.(Arg1541Cys)" "" "0000925927" "00004517" "50" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(Lys752Arg)" "" "0000925928" "00004517" "50" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306Gln)" "" "0000967601" "00004517" "50" "5440" "0" "5440" "0" "c.5440C>T" "r.(?)" "p.(Arg1814Trp)" "" "0000967605" "00004517" "30" "1050" "9" "1050" "9" "c.1050+9C>T" "r.(=)" "p.(=)" "" "0000981054" "00004517" "50" "6032" "0" "6032" "0" "c.6032C>G" "r.(?)" "p.(Ser2011Cys)" "" "0000981055" "00004517" "50" "3357" "10" "3357" "10" "c.3357+10G>A" "r.(=)" "p.(=)" "" "0000981056" "00004517" "50" "3170" "0" "3170" "0" "c.3170A>G" "r.(?)" "p.(Asp1057Gly)" "" "0000981057" "00004517" "50" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Ala864Thr)" "" "0000981058" "00004517" "30" "1527" "8" "1527" "8" "c.1527+8G>A" "r.(=)" "p.(=)" "" "0000981059" "00004517" "30" "625" "-8" "625" "-8" "c.625-8G>A" "r.(=)" "p.(=)" "" "0000981060" "00004517" "50" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ser189Leu)" "" "0001001183" "00004517" "30" "5570" "0" "5570" "0" "c.5570C>T" "r.(?)" "p.(Ala1857Val)" "" "0001001184" "00004517" "30" "4931" "0" "4931" "0" "c.4931A>T" "r.(?)" "p.(Glu1644Val)" "" "0001001185" "00004517" "30" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(Arg1569=)" "" "0001001186" "00004517" "30" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569Trp)" "" "0001001187" "00004517" "50" "4673" "0" "4673" "0" "c.4673T>C" "r.(?)" "p.(Phe1558Ser)" "" "0001001188" "00004517" "50" "3948" "0" "3948" "0" "c.3948G>C" "r.(?)" "p.(Lys1316Asn)" "" "0001001189" "00004517" "50" "3712" "0" "3712" "0" "c.3712C>G" "r.(?)" "p.(Gln1238Glu)" "" "0001001190" "00004517" "30" "3656" "0" "3656" "0" "c.3656G>A" "r.(?)" "p.(Arg1219His)" "" "0001001191" "00004517" "50" "3190" "0" "3190" "0" "c.3190C>T" "r.(?)" "p.(Arg1064Trp)" "" "0001001192" "00004517" "50" "3028" "0" "3028" "0" "c.3028C>T" "r.(?)" "p.(Leu1010Phe)" "" "0001001193" "00004517" "30" "2522" "0" "2522" "0" "c.2522C>T" "r.(?)" "p.(Ala841Val)" "" "0001001194" "00004517" "30" "2434" "0" "2434" "0" "c.2434C>G" "r.(?)" "p.(Gln812Glu)" "" "0001001195" "00004517" "50" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(Lys752Arg)" "" "0001001196" "00004517" "30" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Trp)" "" "0001001197" "00004517" "50" "917" "0" "917" "0" "c.917G>A" "r.(?)" "p.(Arg306Gln)" "" "0001001198" "00004517" "50" "228" "0" "228" "0" "c.228G>C" "r.(?)" "p.(Gln76His)" "" "0001015180" "00004517" "50" "5804" "0" "5804" "0" "c.5804C>T" "r.(?)" "p.(Pro1935Leu)" "" "0001015181" "00004517" "30" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(=)" "" "0001015182" "00004517" "50" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Arg801Gln)" "" "0001026409" "00004517" "50" "2542" "0" "2542" "0" "c.2542G>A" "r.(?)" "p.(Val848Met)" "" "0001026410" "00004517" "50" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "0001040143" "00004517" "50" "6026" "0" "6026" "0" "c.6026C>T" "r.(?)" "p.(Pro2009Leu)" "" "0001040144" "00004517" "70" "5274" "0" "5275" "0" "c.5274_5275del" "r.(?)" "p.(Glu1759Glyfs*52)" "" "0001040145" "00004517" "30" "5066" "0" "5066" "0" "c.5066C>G" "r.(?)" "p.(Pro1689Arg)" "" "0001040146" "00004517" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(Asn1330Ser)" "" "0001040147" "00004517" "30" "2118" "0" "2118" "0" "c.2118C>T" "r.(?)" "p.(=)" "" "0001040148" "00004517" "70" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Gln522*)" "" "0001040149" "00004517" "30" "1198" "-3" "1198" "-3" "c.1198-3dup" "r.spl?" "p.?" "" "0001046484" "00004517" "50" "2632" "0" "2632" "0" "c.2632C>T" "r.(?)" "p.(Arg878Cys)" "" "0001066111" "00004517" "50" "4705" "0" "4705" "0" "c.4705C>T" "r.(?)" "p.(Arg1569Trp)" "" "0001089743" "00004517" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000292308" "0000648997" "0000292309" "0000648998" "0000292310" "0000648999" "0000292311" "0000649000" "0000486677" "0001089743"