### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CIC) # 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}}" "CIC" "capicua homolog (Drosophila)" "19" "q13.2" "unknown" "NG_042060.1" "UD_132464964796" "" "https://www.LOVD.nl/CIC" "" "1" "14214" "23152" "612082" "1" "1" "1" "1" "MANE select NM_001386298.1.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-17 17:57:31" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00005185" "CIC" "capicua homolog (Drosophila)" "001" "NM_015125.3" "" "NP_055940.3" "" "" "" "-40" "5433" "4827" "42788817" "42799949" "" "0000-00-00 00:00:00" "" "" "00025836" "CIC" "transcript variant 7" "000" "NM_001386298.1" "" "NP_001373227.1" "" "" "" "-140" "8159" "7554" "42773404" "42799948" "00006" "2023-06-23 11:06:58" "" "" ## 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" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05884" "MRD45" "mental retardation, autosomal dominant, type 45 (MRD45)" "AD" "617600" "" "" "" "00006" "2020-12-09 22:17:59" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CIC" "05532" "CIC" "05884" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00163912" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00164362" "" "" "" "1" "" "00719" "Jansen, submitted" "" "M" "" "" "" "0" "" "" "" "Jansen et al. Patient 24" "00229931" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00248876" "" "" "" "1" "" "02528" "" "" "" "" "" "" "0" "" "" "" "" "00248879" "" "" "" "1" "" "02528" "" "" "" "" "" "" "0" "" "" "" "Nat" "00324404" "" "" "" "1" "" "00006" "{PMID:Lu 2017:28288114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "white" "Fam1" "00324405" "" "" "" "2" "" "00006" "{PMID:Lu 2017:28288114}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "white" "Fam2Pat1" "00324406" "" "" "00324405" "1" "" "00006" "{PMID:Lu 2017:28288114}" "brother" "M" "" "" "" "0" "" "" "white" "Fam2Pat2" "00324407" "" "" "" "1" "" "00006" "{PMID:Lu 2017:28288114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "Asian" "Fam3" "00324408" "" "" "" "1" "" "00006" "{PMID:Lu 2017:28288114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents, mosaic father" "M" "" "" "" "0" "" "" "white" "Fam4" "00324413" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio6" "00324424" "" "" "" "1" "" "00006" "{PMID:Cao 2020:32820034}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "CFD1A" "00324425" "" "" "" "1" "" "00006" "{PMID:Cao 2020:32820034}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "CFD-1SG" "00324426" "" "" "" "1" "" "00006" "{PMID:Tan 2019:30030131}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat5" "00324427" "" "" "" "1" "" "00006" "{PMID:Tan 2019:30030131}" "" "F" "" "United States" "" "0" "" "" "" "Pat6" "00324439" "" "" "" "3" "" "00006" "{DOI:Kishnani 2020:10.1055/s-0040-1714070}" "2-generation family, 3 affected" "" "" "United States" "" "0" "" "" "" "family" "00383044" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "185309" "00416321" "" "" "" "1" "" "02528" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "F" "" "" "" "0" "" "" "" "Pat4" "00416322" "" "" "" "1" "" "02528" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "F" "" "" "" "0" "" "" "" "Pat8" "00419201" "" "" "" "1" "" "00006" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "M" "" "" "" "0" "" "" "" "Pat1" "00419202" "" "" "" "1" "" "00006" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "M" "" "" "" "0" "" "" "" "Pat2" "00419203" "" "" "" "1" "" "00006" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "M" "" "" "" "0" "" "" "" "Pat3/7" "00419204" "" "" "" "1" "" "00006" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "M" "" "" "" "0" "" "" "" "Pat5" "00419205" "" "" "" "1" "" "00006" "{PMID:Han 2022:36054333}" "analysis 140 isolated spina bifida cases" "M" "" "" "" "0" "" "" "" "Pat6" "00419582" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8051" "00428026" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A200" "00435250" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "260881" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00163912" "00198" "00164362" "00139" "00229931" "00198" "00248876" "00139" "00248879" "00139" "00324404" "00198" "00324405" "00198" "00324406" "00198" "00324407" "00198" "00324408" "00198" "00324413" "00139" "00324424" "00198" "00324425" "00198" "00324426" "00198" "00324427" "00198" "00324439" "00198" "00383044" "05884" "00416321" "00860" "00416322" "00860" "00419201" "00860" "00419202" "00860" "00419203" "00860" "00419204" "00860" "00419205" "00860" "00419582" "00198" "00428026" "00198" "00435250" "05884" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00860, 05532, 05884 ## Count = 24 "{{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}}" "0000129024" "00198" "00163912" "01807" "Unknown" "" "Ataxia (HP:0001251); Intellectual disability (HP:0001249); Tremor (HP:0001337)" "" "" "" "" "" "" "" "" "" "" "" "0000129467" "00139" "00164362" "00719" "Isolated (sporadic)" "" "ASD (HP:0000729); borderline intellectual disability (HP:0006889)" "" "" "" "" "" "" "" "" "" "" "" "0000173011" "00198" "00229931" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Attention deficit hyperactivity disorder (HP:0007018); Intellectual disability, severe (HP:0010864); Delayed speech and language development (HP:0000750); Strabismus (HP:0000486); Astigmatism (HP:0000483)" "" "" "" "" "" "" "" "" "" "" "" "0000242946" "00198" "00324404" "00006" "Isolated (sporadic)" "16y" "see paper; ..., OFC 57.5cm (99th); autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI multiple punctate foci of T2 hyperintensity within subcortical white matter; normal muscle tone, normal deep tendon reflexes, no dyskinesia; no ataxia; ALL, diastasis recti, mild telangiectasia" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" "" "0000242947" "00198" "00324405" "00006" "Isolated (sporadic)" "27y" "see paper; ..., no autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI brain normal; normal muscle tone, normal deep tendon reflexes, normal gait, no ataxia; pulmonary stenosis" "" "" "" "" "" "" "" "" "" "seizures, pulmonic stenosis" "" "0000242948" "00198" "00324406" "00006" "Isolated (sporadic)" "9y" "see paper; ..., OFC 54cm (90th); no autism spectrum disorder/autistic features; attention-deficit/hyperactivity; developmental delay/intellectual disability; seizures; no dysmorphic features; MRI brain normal; truncal hypotonia, normal deep tendon reflexes, normal gait, no ataxia; heart murmur, mild cutis marmorata telangiectasia" "" "" "" "" "" "" "" "" "" "developmental delay, seizure, ADHD" "" "0000242949" "00198" "00324407" "00006" "Isolated (sporadic)" "4y" "see paper; ..., OFC 50.2cm (32nd); autism spectrum disorder/autistic features; no attention-deficit/hyperactivity; developmental delay/intellectual disability; no seizures; no dysmorphic features; MRI brain single punctate focus of T2 hyperintensity within right frontal lobe white matter; mild diffuse hypotonia, normal reflexes, no dyskinesia, no ataxia" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, speech delay, mild diffuse hypotonia" "" "0000242950" "00198" "00324408" "00006" "Unknown" "15y" "see paper; ..., OFC 54cm (27th); autism spectrum disorder/autistic features; attention-deficit/hyperactivity; developmental delay/intellectual disability; no seizures; no dysmorphic features; MRI brain several periventricular T2 hyperintensities white matter, more concentrated in parieto-occipital region; normal muscle tone, hyperreflexia, no pyramidal syndrome, no ataxia; Marfanoid habitus, stereotypic movements" "" "" "" "" "" "" "" "" "" "intellectual disability, autism spectrum disorder, marfanoid habitus" "" "0000242955" "00139" "00324413" "00006" "Isolated (sporadic)" "21m" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000242966" "00198" "00324424" "00006" "Isolated (sporadic)" "" "autistic spectrum disorder, seizures, loss of repetitive language, loss of motor skills" "" "" "" "" "" "" "" "" "" "cerebral folate deficiency syndrome" "" "0000242967" "00198" "00324425" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242968" "00198" "00324426" "00006" "Isolated (sporadic)" "" "see paper; ..., developmental delay/intellectual disability, febrile seizure, vitD deficiency, no dysmorphic features, no ADHD, no ASD" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability" "" "0000242969" "00198" "00324427" "00006" "Unknown" "" "see paper; ..., developmental delay/intellectual disability, mild motor incoordination, no seizures, no dysmorphic features, no ADHD, no ASD" "" "" "" "" "" "" "" "" "" "" "" "0000242980" "00198" "00324439" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "eurodevelopmental impairment" "" "0000276842" "05884" "00383044" "01164" "Isolated (sporadic)" "08y" "Delayed speech and language development, Behavioral abnormality, Seizure, Increased serum lactate, Increased CSF lactate, Hyperglycinemia" "" "" "" "" "" "" "" "" "" "" "" "0000308087" "00860" "00416321" "02528" "Unknown" "" "" "" "" "spina bifida" "" "" "" "" "" "" "" "" "0000310489" "00860" "00419201" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spina bifida" "" "0000310490" "00860" "00419202" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spina bifida" "" "0000310491" "00860" "00419203" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spina bifida" "" "0000310492" "00860" "00419204" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spina bifida" "" "0000310493" "00860" "00419205" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "spina bifida" "" "0000310863" "00198" "00419582" "02300" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000318972" "00198" "00428026" "00006" "Familial, autosomal dominant" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325446" "05884" "00435250" "01164" "Isolated (sporadic)" "07y" "Autism, Neurodevelopmental delay, Poor speech" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000164776" "00163912" "1" "01807" "01807" "2018-04-23 08:51:16" "" "" "SEQ" "DNA" "" "" "0000165229" "00164362" "1" "00719" "00719" "2018-05-15 10:34:22" "" "" "SEQ-NG" "DNA" "" "" "0000231024" "00229931" "1" "01807" "01807" "2019-04-12 16:21:43" "" "" "SEQ" "DNA" "" "" "0000249980" "00248876" "1" "02528" "02528" "2019-07-29 21:19:49" "" "" "SEQ" "DNA" "" "" "0000249983" "00248879" "1" "02528" "02528" "2019-07-29 21:37:30" "" "" "SEQ" "DNA" "" "" "0000325594" "00324404" "1" "00006" "00006" "2020-12-11 16:01:59" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325595" "00324405" "1" "00006" "00006" "2020-12-11 16:01:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325596" "00324406" "1" "00006" "00006" "2020-12-11 16:01:59" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325597" "00324407" "1" "00006" "00006" "2020-12-11 16:01:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325598" "00324408" "1" "00006" "00006" "2020-12-11 16:01:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325603" "00324413" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000325614" "00324424" "1" "00006" "00006" "2020-12-11 19:31:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325615" "00324425" "1" "00006" "00006" "2020-12-11 19:31:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325616" "00324426" "1" "00006" "00006" "2020-12-11 19:59:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325617" "00324427" "1" "00006" "00006" "2020-12-11 20:02:33" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325630" "00324439" "1" "00006" "00006" "2020-12-12 15:25:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000384268" "00383044" "1" "01164" "01164" "2021-09-20 11:47:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000417601" "00416321" "1" "02528" "02528" "2022-08-27 02:43:38" "" "" "SEQ-NG" "DNA" "" "" "0000417602" "00416322" "1" "02528" "02528" "2022-08-27 02:54:55" "" "" "SEQ-NG" "DNA" "" "" "0000420503" "00419201" "1" "00006" "00006" "2022-10-17 19:18:15" "" "" "SEQ" "DNA" "" "" "0000420504" "00419202" "1" "00006" "00006" "2022-10-17 19:18:15" "" "" "SEQ" "DNA" "" "" "0000420505" "00419203" "1" "00006" "00006" "2022-10-17 19:18:15" "" "" "SEQ" "DNA" "" "" "0000420506" "00419204" "1" "00006" "00006" "2022-10-17 19:18:15" "" "" "SEQ" "DNA" "" "" "0000420507" "00419205" "1" "00006" "00006" "2022-10-17 19:18:15" "" "" "SEQ" "DNA" "" "" "0000420886" "00419582" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429439" "00428026" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000436730" "00435250" "1" "01164" "01164" "2023-06-22 14:32:21" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000249980" "CIC" "0000249983" "CIC" "0000325594" "CIC" "0000325595" "CIC" "0000325596" "CIC" "0000325597" "CIC" "0000325598" "CIC" "0000325603" "CIC" "0000325614" "CIC" "0000325615" "CIC" "0000325616" "CIC" "0000325617" "CIC" "0000325630" "CIC" "0000384268" "CIC" "0000417601" "CIC" "0000417602" "CIC" "0000420503" "CIC" "0000420504" "CIC" "0000420505" "CIC" "0000420506" "CIC" "0000420507" "CIC" "0000436730" "CIC" ## 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 = 147 "{{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}}" "0000254853" "0" "30" "19" "42799307" "42799307" "subst" "0" "01943" "CIC_000018" "g.42799307A>C" "" "" "" "CIC(NM_015125.4):c.4791A>C (p.P1597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295155A>C" "" "likely benign" "" "0000273567" "0" "10" "19" "42799299" "42799299" "subst" "0" "01943" "CIC_000014" "g.42799299T>C" "" "" "" "CIC(NM_015125.3):c.4783delinsC (p.(Ser1595Pro)), CIC(NM_015125.4):c.4783T>C (p.S1595P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295147T>C" "" "benign" "" "0000273568" "0" "30" "19" "42795825" "42795825" "subst" "4.98637E-5" "01943" "CIC_000007" "g.42795825C>T" "" "" "" "CIC(NM_001304815.1):c.5541C>T (p.A1847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42291673C>T" "" "likely benign" "" "0000273569" "0" "30" "19" "42796743" "42796743" "subst" "0" "01943" "CIC_000008" "g.42796743C>G" "" "" "" "CIC(NM_001304815.1):c.5928C>G (p.P1976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42292591C>G" "" "likely benign" "" "0000326537" "0" "50" "19" "42791170" "42791170" "subst" "0" "01804" "CIC_000001" "g.42791170C>T" "" "" "" "CIC(NM_015125.3):c.230C>T (p.(Ser77Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42287018C>T" "" "VUS" "" "0000326540" "0" "50" "19" "42795241" "42795241" "subst" "6.99099E-5" "01804" "CIC_000004" "g.42795241C>T" "" "" "" "CIC(NM_015125.3):c.2321C>T (p.(Ala774Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42291089C>T" "" "VUS" "" "0000326541" "0" "30" "19" "42795522" "42795522" "subst" "0" "01804" "CIC_000005" "g.42795522C>G" "" "" "" "CIC(NM_015125.3):c.2602C>G (p.(Pro868Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42291370C>G" "" "likely benign" "" "0000326542" "0" "30" "19" "42795573" "42795573" "subst" "2.889E-5" "01804" "CIC_000006" "g.42795573G>A" "" "" "" "CIC(NM_001386298.1):c.5380G>A (p.(Gly1794Ser)), CIC(NM_015125.5):c.2653G>A (p.G885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42291421G>A" "" "likely benign" "" "0000326544" "0" "50" "19" "42797909" "42797909" "subst" "1.6632E-5" "01804" "CIC_000010" "g.42797909C>T" "" "" "" "CIC(NM_015125.3):c.3961C>T (p.(Arg1321Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42293757C>T" "" "VUS" "" "0000326547" "0" "50" "19" "42799298" "42799298" "dup" "0" "01804" "CIC_000013" "g.42799298dup" "" "" "" "CIC(NM_015125.3):c.4779_4780insC (p.(Ser1595LeufsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295146dup" "" "VUS" "" "0000326548" "0" "30" "19" "42799299" "42799299" "subst" "0" "01804" "CIC_000014" "g.42799299T>C" "" "" "" "CIC(NM_015125.3):c.4783delinsC (p.(Ser1595Pro)), CIC(NM_015125.4):c.4783T>C (p.S1595P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295147T>C" "" "likely benign" "" "0000326549" "0" "50" "19" "42799313" "42799316" "del" "1.87329E-5" "01804" "CIC_000015" "g.42799313_42799316del" "" "" "" "CIC(NM_015125.3):c.4797_4800del (p.(Gly1600ProfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295161_42295164del" "" "VUS" "" "0000326550" "0" "50" "19" "42799314" "42799314" "subst" "0" "01804" "CIC_000016" "g.42799314G>C" "" "" "" "CIC(NM_015125.3):c.4798G>C (p.(Gly1600Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295162G>C" "" "VUS" "" "0000326551" "0" "50" "19" "42799320" "42799320" "subst" "0" "01804" "CIC_000017" "g.42799320T>C" "" "" "" "CIC(NM_015125.3):c.4804T>C (p.(Ser1602Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42295168T>C" "" "VUS" "" "0000326552" "0" "50" "19" "42801253" "42801253" "subst" "0" "01804" "PAFAH1B3_000001" "g.42801253G>A" "" "" "" "PAFAH1B3(NM_001145939.1):c.673C>T (p.(Pro225Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42297101G>A" "" "VUS" "" "0000368378" "0" "70" "19" "42791715" "42791715" "del" "0" "01807" "CIC_000019" "g.42791715del" "" "" "" "601delC" "" "Unknown" "" "" "0" "" "" "g.42287563del" "" "likely pathogenic" "" "0000368887" "0" "50" "19" "42791476" "42791476" "subst" "0" "00719" "CIC_000020" "g.42791476C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42287324C>T" "" "VUS" "" "0000472717" "0" "90" "19" "42794473" "42794473" "dup" "0" "01807" "CIC_000021" "g.42794473dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.42290321dup" "" "pathogenic" "" "0000567506" "0" "30" "19" "42776512" "42776512" "subst" "0" "01943" "CIC_000023" "g.42776512A>T" "" "" "" "CIC(NM_001304815.1):c.577A>T (p.T193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42272360A>T" "" "likely benign" "" "0000567507" "0" "30" "19" "42777507" "42777507" "subst" "0" "01943" "CIC_000025" "g.42777507C>T" "" "" "" "CIC(NM_001304815.1):c.1572C>T (p.H524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42273355C>T" "" "likely benign" "" "0000567508" "0" "30" "19" "42777573" "42777573" "subst" "0" "01943" "CIC_000026" "g.42777573C>T" "" "" "" "CIC(NM_001304815.1):c.1638C>T (p.P546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42273421C>T" "" "likely benign" "" "0000567509" "0" "30" "19" "42777603" "42777603" "subst" "0" "02326" "CIC_000027" "g.42777603G>A" "" "" "" "CIC(NM_001304815.1):c.1668G>A (p.T556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42273451G>A" "" "likely benign" "" "0000567510" "0" "50" "19" "42791757" "42791757" "subst" "0" "02327" "CIC_000028" "g.42791757C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42287605C>T" "" "VUS" "" "0000567511" "0" "30" "19" "42791884" "42791884" "subst" "0.000146248" "01804" "CIC_000029" "g.42791884C>T" "" "" "" "CIC(NM_001386298.1):c.3492+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42287732C>T" "" "likely benign" "" "0000567513" "0" "30" "19" "42794472" "42794472" "subst" "4.06207E-6" "01943" "CIC_000031" "g.42794472C>T" "" "" "" "CIC(NM_001304815.1):c.4279C>T (p.P1427S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42290320C>T" "" "likely benign" "" "0000567514" "0" "30" "19" "42794893" "42794893" "subst" "1.25448E-5" "01943" "CIC_000032" "g.42794893G>A" "" "" "" "CIC(NM_001304815.1):c.4700G>A (p.G1567E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42290741G>A" "" "likely benign" "" "0000567516" "0" "90" "19" "42795871" "42795871" "subst" "0" "02327" "CIC_000034" "g.42795871C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42291719C>T" "" "pathogenic" "" "0000567517" "0" "30" "19" "42796366" "42796366" "subst" "2.44023E-5" "01943" "CIC_000035" "g.42796366G>A" "" "" "" "CIC(NM_001304815.1):c.5735+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42292214G>A" "" "likely benign" "" "0000567518" "0" "30" "19" "42796833" "42796833" "subst" "0.00197086" "01943" "CIC_000036" "g.42796833T>C" "" "" "" "CIC(NM_001304815.1):c.6018T>C (p.S2006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42292681T>C" "" "likely benign" "" "0000567521" "0" "50" "19" "42799051" "42799051" "subst" "0" "01943" "CIC_000039" "g.42799051G>A" "" "" "" "CIC(NM_001304815.1):c.7262G>A (p.R2421H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42294899G>A" "" "VUS" "" "0000567523" "0" "30" "19" "42799295" "42799295" "dup" "0" "01804" "CIC_000040" "g.42799295dup" "" "" "" "CIC(NM_015125.3):c.4778_4779insG (p.(Pro1594AlafsTer20))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42295143dup" "" "likely benign" "" "0000579062" "0" "70" "19" "42793116" "42793117" "dup" "0" "02528" "CIC_000043" "g.42793116_42793117dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42288964_42288965dup" "" "likely pathogenic" "" "0000579064" "0" "90" "19" "42793165" "42793165" "subst" "0" "02528" "CIC_000042" "g.42793165C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.42289013C>T" "" "pathogenic" "" "0000617646" "0" "50" "19" "42777763" "42777763" "subst" "0" "02325" "CIC_000045" "g.42777763C>T" "" "" "" "CIC(NM_001304815.2):c.1828C>T (p.R610C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42273611C>T" "" "VUS" "" "0000617647" "0" "50" "19" "42799306" "42799306" "dup" "0" "01804" "CIC_000047" "g.42799306dup" "" "" "" "CIC(NM_015125.3):c.4783_4784insC (p.(Pro1598ThrfsTer16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42295154dup" "" "VUS" "" "0000617648" "0" "50" "19" "42799323" "42799323" "subst" "0" "01804" "CIC_000048" "g.42799323A>C" "" "" "" "CIC(NM_015125.3):c.4807A>C (p.(Thr1603Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42295171A>C" "" "VUS" "" "0000624016" "0" "30" "19" "42776216" "42776216" "subst" "0" "01943" "CIC_000044" "g.42776216A>G" "" "" "" "CIC(NM_001304815.1):c.281A>G (p.K94R), CIC(NM_001386298.1):c.281A>G (p.(Lys94Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42272064A>G" "" "likely benign" "" "0000624017" "0" "30" "19" "42795515" "42795515" "subst" "8.27404E-6" "01943" "CIC_000046" "g.42795515C>T" "" "" "" "CIC(NM_001304815.1):c.5322C>T (p.T1774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42291363C>T" "" "likely benign" "" "0000658584" "0" "30" "19" "42776027" "42776027" "subst" "0" "01943" "CIC_000049" "g.42776027G>T" "" "" "" "CIC(NM_001304815.1):c.92G>T (p.R31L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42271875G>T" "" "likely benign" "" "0000658585" "0" "30" "19" "42776664" "42776664" "subst" "0" "01943" "CIC_000050" "g.42776664T>C" "" "" "" "CIC(NM_001304815.1):c.729T>C (p.Y243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42272512T>C" "" "likely benign" "" "0000658586" "0" "30" "19" "42776705" "42776705" "subst" "0" "02325" "CIC_000051" "g.42776705C>T" "" "" "" "CIC(NM_001304815.2):c.770C>T (p.A257V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42272553C>T" "" "likely benign" "" "0000658587" "0" "70" "19" "42793063" "42793063" "dup" "0" "02327" "CIC_000052" "g.42793063dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42288911dup" "" "likely pathogenic" "" "0000658588" "0" "30" "19" "42795295" "42795295" "subst" "7.56601E-5" "01943" "CIC_000053" "g.42795295C>T" "" "" "" "CIC(NM_001304815.1):c.5102C>T (p.A1701V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42291143C>T" "" "likely benign" "" "0000681425" "0" "30" "19" "42776189" "42776189" "subst" "0" "01943" "CIC_000055" "g.42776189C>T" "" "" "" "CIC(NM_001304815.1):c.254C>T (p.P85L), CIC(NM_001386298.1):c.254C>T (p.(Pro85Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681427" "0" "90" "19" "42777436" "42777436" "subst" "0" "01943" "CIC_000056" "g.42777436C>T" "" "" "" "CIC(NM_001304815.1):c.1501C>T (p.Q501*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681428" "0" "30" "19" "42799013" "42799013" "subst" "0" "01943" "CIC_000057" "g.42799013C>T" "" "" "" "CIC(NM_001304815.1):c.7224C>T (p.D2408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692808" "0" "30" "19" "42776354" "42776354" "subst" "0" "01943" "CIC_000058" "g.42776354G>A" "" "" "" "CIC(NM_001304815.1):c.419G>A (p.R140Q), CIC(NM_001386298.1):c.419G>A (p.(Arg140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692809" "0" "30" "19" "42791482" "42791482" "subst" "4.06131E-6" "01943" "CIC_000059" "g.42791482A>T" "" "" "" "CIC(NM_001304815.1):c.3190A>T (p.I1064F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692810" "0" "50" "19" "42794055" "42794055" "subst" "8.44067E-6" "01943" "CIC_000060" "g.42794055C>T" "" "" "" "CIC(NM_001304815.1):c.4143C>T (p.T1381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692811" "0" "30" "19" "42795472" "42795472" "subst" "0.000473009" "01943" "CIC_000061" "g.42795472C>T" "" "" "" "CIC(NM_001304815.1):c.5279C>T (p.A1760V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692812" "0" "50" "19" "42796609" "42796609" "subst" "4.15176E-6" "02327" "CIC_000062" "g.42796609C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692813" "0" "30" "19" "42797227" "42797227" "subst" "0" "01943" "CIC_000063" "g.42797227T>C" "" "" "" "CIC(NM_001304815.1):c.6316T>C (p.S2106P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692814" "0" "50" "19" "42798375" "42798377" "dup" "0" "02325" "CIC_000064" "g.42798375_42798377dup" "" "" "" "CIC(NM_015125.5):c.4246_4248dupAGA (p.R1417dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692815" "0" "50" "19" "42799293" "42799294" "ins" "0" "01943" "CIC_000065" "g.42799293_42799294insCG" "" "" "" "CIC(NM_001304815.1):c.7504_7505insCG (p.Q2502Pfs*28), CIC(NM_015125.3):c.4777_4778insCG (p.(Gln1593fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692816" "0" "50" "19" "42799294" "42799294" "subst" "0" "01943" "CIC_000066" "g.42799294A>C" "" "" "" "CIC(NM_001304815.1):c.7505A>C (p.Q2502P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692817" "0" "50" "19" "42799295" "42799296" "ins" "0" "01943" "CIC_000067" "g.42799295_42799296insGGC" "" "" "" "CIC(NM_001304815.1):c.7506_7507insGGC (p.Q2502_P2503insG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708715" "0" "90" "19" "42793165" "42793165" "subst" "0" "00006" "CIC_000042" "g.42793165C>T" "" "{PMID:Lu 2017:28288114}" "" "" "" "De novo" "" "" "0" "" "" "g.42289013C>T" "" "pathogenic (dominant)" "" "0000708716" "0" "90" "19" "42794721" "42794728" "dup" "0" "00006" "CIC_000073" "g.42794721_42794728dup" "" "{PMID:Lu 2017:28288114}" "" "1801_1808dupAAGAGACC" "presumed germline mosaicism" "De novo" "" "" "0" "" "" "g.42290569_42290576dup" "" "pathogenic (dominant)" "" "0000708717" "0" "90" "19" "42794721" "42794728" "dup" "0" "00006" "CIC_000073" "g.42794721_42794728dup" "" "{PMID:Lu 2017:28288114}" "" "1801_1808dupAAGAGACC" "presumed germline mosaicism" "De novo" "" "" "0" "" "" "g.42290569_42290576dup" "" "pathogenic (dominant)" "" "0000708718" "0" "90" "19" "42795491" "42795498" "delins" "0" "00006" "CIC_000074" "g.42795491_42795498delinsC" "" "{PMID:Lu 2017:28288114}" "" "" "" "De novo" "" "" "0" "" "" "g.42291339_42291346delinsC" "" "pathogenic (dominant)" "" "0000708719" "0" "90" "19" "42796325" "42796325" "subst" "0" "00006" "CIC_000075" "g.42796325C>T" "" "{PMID:Lu 2017:28288114}" "" "" "0.15 somatic mosaicism in father (saliva)" "Germline" "" "" "0" "" "" "g.42292173C>T" "" "pathogenic (dominant)" "" "0000708728" "0" "70" "19" "42794394" "42794394" "subst" "4.08167E-6" "00006" "CIC_000068" "g.42794394C>T" "" "{PMID:Vissers 2010:21076407}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000708737" "0" "90" "19" "42793165" "42793165" "subst" "0" "00006" "CIC_000042" "g.42793165C>T" "" "{PMID:Cao 2020:32820034}" "" "C1057T" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000708738" "0" "90" "19" "42793116" "42793117" "ins" "0" "00006" "CIC_000069" "g.42793116_42793117insTG" "" "{PMID:Cao 2020:32820034}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000708739" "0" "70" "19" "42791820" "42791820" "subst" "0" "00006" "CIC_000070" "g.42791820G>A" "" "{PMID:Tan 2019:30030131}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000708740" "0" "90" "19" "42795382" "42795382" "del" "0" "00006" "CIC_000071" "g.42795382del" "" "{PMID:Tan 2019:30030131}" "" "2462delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000708756" "0" "90" "19" "42795614" "42795614" "dup" "0" "00006" "CIC_000072" "g.42795614dup" "" "{DOI:Kishnani 2020:10.1055/s-0040-1714070}" "" "2694dupC" "" "Unknown" "" "" "0" "" "" "g.42291462dup" "" "pathogenic (dominant)" "" "0000727392" "0" "30" "19" "42776141" "42776141" "subst" "0" "01943" "CIC_000076" "g.42776141G>A" "" "" "" "CIC(NM_001304815.1):c.206G>A (p.R69Q), CIC(NM_001386298.1):c.206G>A (p.(Arg69Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727393" "0" "50" "19" "42776281" "42776281" "subst" "0" "02329" "CIC_000022" "g.42776281C>T" "" "" "" "CIC(NM_001304815.1):c.346C>T (p.R116*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727394" "0" "50" "19" "42777359" "42777359" "subst" "0" "02329" "CIC_000024" "g.42777359C>T" "" "" "" "CIC(NM_001304815.1):c.1424C>T (p.T475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727395" "0" "50" "19" "42777469" "42777469" "subst" "0" "02325" "CIC_000077" "g.42777469A>G" "" "" "" "CIC(NM_001304815.2):c.1534A>G (p.M512V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727396" "0" "50" "19" "42777590" "42777590" "subst" "0" "02325" "CIC_000078" "g.42777590G>A" "" "" "" "CIC(NM_001304815.2):c.1655G>A (p.R552H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727397" "0" "30" "19" "42791350" "42791350" "subst" "4.10115E-6" "01943" "CIC_000079" "g.42791350A>G" "" "" "" "CIC(NM_001304815.1):c.3137A>G (p.E1046G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727398" "0" "70" "19" "42793448" "42793448" "del" "0" "02325" "CIC_000080" "g.42793448del" "" "" "" "CIC(NM_015125.5):c.1250delC (p.P417Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727399" "0" "50" "19" "42795804" "42795804" "subst" "1.65832E-5" "02325" "CIC_000081" "g.42795804G>A" "" "" "" "CIC(NM_015125.5):c.2793G>A (p.M931I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727400" "0" "50" "19" "42797904" "42797904" "subst" "1.66183E-5" "02325" "CIC_000082" "g.42797904C>T" "" "" "" "CIC(NM_015125.5):c.3956C>T (p.P1319L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808897" "0" "30" "19" "42776313" "42776313" "subst" "0" "01943" "CIC_000083" "g.42776313C>T" "" "" "" "CIC(NM_001304815.1):c.378C>T (p.H126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808898" "0" "50" "19" "42776353" "42776353" "subst" "0" "01943" "CIC_000084" "g.42776353C>T" "" "" "" "CIC(NM_001304815.1):c.418C>T (p.R140W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808899" "0" "30" "19" "42776512" "42776512" "subst" "0" "02326" "CIC_000023" "g.42776512A>T" "" "" "" "CIC(NM_001304815.1):c.577A>T (p.T193S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808900" "0" "30" "19" "42777573" "42777573" "subst" "0" "02326" "CIC_000026" "g.42777573C>T" "" "" "" "CIC(NM_001304815.1):c.1638C>T (p.P546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808901" "0" "30" "19" "42778215" "42778215" "subst" "0" "01943" "CIC_000085" "g.42778215G>A" "" "" "" "CIC(NM_001304815.1):c.2280G>A (p.T760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808902" "0" "30" "19" "42795054" "42795054" "subst" "0" "01943" "CIC_000086" "g.42795054G>A" "" "" "" "CIC(NM_001304815.1):c.4861G>A (p.G1621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808903" "0" "50" "19" "42796447" "42796447" "subst" "0.000138727" "01943" "CIC_000087" "g.42796447G>A" "" "" "" "CIC(NM_001304815.1):c.5736-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808904" "0" "30" "19" "42799172" "42799172" "subst" "3.00201E-5" "01943" "CIC_000088" "g.42799172C>T" "" "" "" "CIC(NM_001304815.1):c.7383C>T (p.S2461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810833" "0" "70" "19" "42793134" "42793134" "dup" "0" "01164" "CIC_000089" "g.42793134dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "g.42288982dup" "" "likely pathogenic (dominant)" "ACMG" "0000877320" "0" "90" "19" "42794931" "42794931" "subst" "0" "02528" "CIC_000090" "g.42794931A>G" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000877321" "0" "90" "19" "42798784" "42798784" "subst" "0" "02528" "CIC_000091" "g.42798784G>C" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000880858" "0" "70" "19" "42794422" "42794422" "subst" "0" "00006" "CIC_000093" "g.42794422C>G" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42290270C>G" "" "VUS" "" "0000880859" "0" "70" "19" "42794697" "42794697" "subst" "5.28834E-5" "00006" "CIC_000094" "g.42794697A>G" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42290545A>G" "" "VUS" "" "0000880860" "0" "70" "19" "42794917" "42794917" "subst" "2.53002E-5" "00006" "CIC_000095" "g.42794917G>A" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42290765G>A" "" "VUS" "" "0000880861" "0" "70" "19" "42797159" "42797159" "subst" "0.000201495" "00006" "CIC_000096" "g.42797159C>T" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42293007C>T" "" "VUS" "" "0000880862" "0" "70" "19" "42797224" "42797224" "subst" "0.000105754" "00006" "CIC_000097" "g.42797224G>A" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42293072G>A" "" "VUS" "" "0000880863" "0" "70" "19" "42797252" "42797252" "subst" "2.1752E-5" "00006" "CIC_000098" "g.42797252G>A" "" "{PMID:Han 2022:36054333}" "" "" "extensive functional analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.42293100G>A" "" "VUS" "" "0000881245" "0" "90" "19" "42791376" "42791377" "del" "0" "02300" "CIC_000092" "g.42791376_42791377del" "" "{PMID:Marinakis 2021:34008892}" "" "c.436_437delAG" "ACMG PVS1, PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.42287224_42287225del" "" "pathogenic (dominant)" "ACMG" "0000895018" "0" "50" "19" "42776453" "42776453" "subst" "0" "02325" "CIC_000099" "g.42776453C>T" "" "" "" "CIC(NM_001386298.1):c.518C>T (p.(Ala173Val), p.A173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895019" "0" "50" "19" "42793352" "42793352" "subst" "1.22668E-5" "02325" "CIC_000100" "g.42793352C>T" "" "" "" "CIC(NM_015125.5):c.1154C>T (p.S385L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895020" "0" "90" "19" "42795757" "42795757" "subst" "0" "02326" "CIC_000101" "g.42795757C>T" "" "" "" "CIC(NM_001304815.1):c.5473C>T (p.Q1825*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908912" "0" "90" "19" "42791393" "42791393" "subst" "0" "00006" "CIC_000102" "g.42791393G>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice donor" "Germline/De novo (untested)" "" "" "0" "" "" "g.42287241G>T" "" "pathogenic (dominant)" "" "0000915243" "0" "50" "19" "42794394" "42794394" "subst" "4.08167E-6" "02327" "CIC_000068" "g.42794394C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926898" "0" "50" "19" "42777589" "42777589" "subst" "0" "02325" "CIC_000103" "g.42777589C>T" "" "" "" "CIC(NM_001386298.1):c.1654C>T (p.R552C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926899" "0" "50" "19" "42796850" "42796851" "ins" "0" "02325" "CIC_000104" "g.42796850_42796851insTCCTGCACCCAC" "" "" "" "CIC(NM_015125.5):c.3308_3309insTCCTGCACCCAC (p.P1100_T1103dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927856" "0" "70" "19" "42776281" "42776281" "subst" "0" "01164" "CIC_000022" "g.42776281C>T" "" "" "" "" "ACMG PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.42272129C>T" "" "likely pathogenic (dominant)" "ACMG" "0000931063" "0" "50" "19" "42777505" "42777505" "subst" "0" "02327" "CIC_000105" "g.42777505C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951307" "0" "50" "19" "42776237" "42776237" "subst" "0" "02325" "CIC_000106" "g.42776237G>A" "" "" "" "CIC(NM_001386298.1):c.302G>A (p.R101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951308" "0" "50" "19" "42793517" "42793517" "subst" "0" "02325" "CIC_000107" "g.42793517G>A" "" "" "" "CIC(NM_015125.5):c.1319G>A (p.R440H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951309" "0" "30" "19" "42794661" "42794661" "subst" "6.92053E-5" "02325" "CIC_000108" "g.42794661C>T" "" "" "" "CIC(NM_015125.5):c.1741C>T (p.P581S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951310" "0" "30" "19" "42796277" "42796277" "subst" "2.84451E-5" "02325" "CIC_000109" "g.42796277G>A" "" "" "" "CIC(NM_015125.5):c.2926G>A (p.G976S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969782" "0" "50" "19" "42794658" "42794658" "subst" "0" "02329" "CIC_000110" "g.42794658G>A" "" "" "" "CIC(NM_015125.5):c.1738G>A (p.G580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983491" "0" "30" "19" "42776141" "42776141" "subst" "0" "01804" "CIC_000076" "g.42776141G>A" "" "" "" "CIC(NM_001304815.1):c.206G>A (p.R69Q), CIC(NM_001386298.1):c.206G>A (p.(Arg69Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983492" "0" "30" "19" "42776216" "42776216" "subst" "0" "01804" "CIC_000044" "g.42776216A>G" "" "" "" "CIC(NM_001304815.1):c.281A>G (p.K94R), CIC(NM_001386298.1):c.281A>G (p.(Lys94Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983493" "0" "30" "19" "42776354" "42776354" "subst" "0" "01804" "CIC_000058" "g.42776354G>A" "" "" "" "CIC(NM_001304815.1):c.419G>A (p.R140Q), CIC(NM_001386298.1):c.419G>A (p.(Arg140Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983494" "0" "50" "19" "42776453" "42776453" "subst" "0" "01804" "CIC_000099" "g.42776453C>T" "" "" "" "CIC(NM_001386298.1):c.518C>T (p.(Ala173Val), p.A173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983495" "0" "50" "19" "42776485" "42776485" "subst" "0" "01804" "CIC_000112" "g.42776485G>T" "" "" "" "CIC(NM_001386298.1):c.550G>T (p.(Gly184Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983496" "0" "30" "19" "42776609" "42776609" "subst" "0" "01804" "CIC_000113" "g.42776609G>A" "" "" "" "CIC(NM_001386298.1):c.674G>A (p.(Arg225His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983497" "0" "50" "19" "42776753" "42776753" "subst" "0" "01804" "CIC_000114" "g.42776753G>A" "" "" "" "CIC(NM_001386298.1):c.818G>A (p.(Cys273Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983498" "0" "30" "19" "42790970" "42790970" "subst" "4.0626E-5" "01804" "CIC_000115" "g.42790970T>G" "" "" "" "CIC(NM_001386298.1):c.2842T>G (p.(Ser948Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983499" "0" "30" "19" "42795494" "42795494" "subst" "0" "01804" "CIC_000116" "g.42795494C>G" "" "" "" "CIC(NM_001386298.1):c.5301C>G (p.(Pro1767=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983500" "0" "30" "19" "42799176" "42799176" "subst" "0" "01804" "CIC_000117" "g.42799176G>T" "" "" "" "CIC(NM_001386298.1):c.7387G>T (p.(Ala2463Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983501" "0" "50" "19" "42799295" "42799296" "ins" "0" "01804" "CIC_000118" "g.42799295_42799296insGGGGGCC" "" "" "" "CIC(NM_001386298.1):c.7506_7507insGGGGGCC (p.(Pro2503Glyfs*22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004814" "0" "90" "19" "42776823" "42776823" "subst" "0" "02326" "CIC_000119" "g.42776823C>G" "" "" "" "CIC(NM_001304815.1):c.888C>G (p.Y296*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004815" "0" "50" "19" "42791268" "42791268" "subst" "0" "01804" "CIC_000120" "g.42791268C>A" "" "" "" "CIC(NM_015125.3):c.328C>A (p.(Pro110Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004816" "0" "50" "19" "42791698" "42791698" "subst" "4.07601E-6" "01804" "CIC_000121" "g.42791698G>A" "" "" "" "CIC(NM_015125.3):c.584G>A (p.(Arg195Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004817" "0" "50" "19" "42793472" "42793472" "subst" "0.000272684" "01804" "CIC_000122" "g.42793472G>A" "" "" "" "CIC(NM_015125.3):c.1274G>A (p.(Arg425His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004818" "0" "30" "19" "42794048" "42794048" "subst" "2.52915E-5" "01804" "CIC_000123" "g.42794048G>A" "" "" "" "CIC(NM_015125.3):c.1409G>A (p.(Arg470Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004819" "0" "30" "19" "42794110" "42794110" "dup" "0" "02325" "CIC_000124" "g.42794110dup" "" "" "" "CIC(NM_015125.5):c.1464+7dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004820" "0" "50" "19" "42794537" "42794548" "dup" "0" "01804" "CIC_000125" "g.42794537_42794548dup" "" "" "" "CIC(NM_015125.3):c.1617_1628dupTGCTTCCTCCTC (p.(Ser543_Ala544insAlaSerSerSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004821" "0" "50" "19" "42794620" "42794620" "subst" "4.06412E-6" "01804" "CIC_000126" "g.42794620C>T" "" "" "" "CIC(NM_015125.3):c.1700C>T (p.(Thr567Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004822" "0" "30" "19" "42794719" "42794719" "subst" "6.51917E-5" "02325" "CIC_000127" "g.42794719G>A" "" "" "" "CIC(NM_015125.5):c.1799G>A (p.R600H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004823" "0" "30" "19" "42794835" "42794835" "subst" "0" "01804" "CIC_000128" "g.42794835G>A" "" "" "" "CIC(NM_015125.3):c.1915G>A (p.(Glu639Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004824" "0" "30" "19" "42795016" "42795016" "subst" "3.75391E-5" "01804" "CIC_000129" "g.42795016C>T" "" "" "" "CIC(NM_015125.3):c.2096C>T (p.(Ala699Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004825" "0" "30" "19" "42795793" "42795793" "subst" "2.48773E-5" "01804" "CIC_000130" "g.42795793G>A" "" "" "" "CIC(NM_015125.3):c.2782G>A (p.(Ala928Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004826" "0" "30" "19" "42796832" "42796832" "subst" "0" "01804" "CIC_000131" "g.42796832C>G" "" "" "" "CIC(NM_015125.3):c.3290C>G (p.(Ser1097Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004827" "0" "50" "19" "42797110" "42797110" "subst" "8.20594E-6" "01804" "CIC_000132" "g.42797110G>A" "" "" "" "CIC(NM_001379480.1):c.6197-1G>A (p.(Gly1158Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004828" "0" "30" "19" "42798460" "42798460" "subst" "8.22659E-5" "01804" "CIC_000133" "g.42798460C>A" "" "" "" "CIC(NM_015125.3):c.4327+4C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004829" "0" "30" "19" "42799131" "42799131" "subst" "3.4802E-5" "01804" "CIC_000134" "g.42799131C>T" "" "" "" "CIC(NM_015125.3):c.4615C>T (p.(Pro1539Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004830" "0" "30" "19" "42799215" "42799215" "subst" "0" "01804" "CIC_000135" "g.42799215G>A" "" "" "" "CIC(NM_015125.3):c.4699G>A (p.(Gly1567Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004831" "0" "30" "19" "42799293" "42799294" "ins" "0" "01804" "CIC_000065" "g.42799293_42799294insCG" "" "" "" "CIC(NM_001304815.1):c.7504_7505insCG (p.Q2502Pfs*28), CIC(NM_015125.3):c.4777_4778insCG (p.(Gln1593fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004832" "0" "50" "19" "42801376" "42801376" "subst" "2.437E-5" "01804" "CIC_000136" "g.42801376T>C" "" "" "" "PAFAH1B3(NM_002573.3):c.550A>G (p.(Thr184Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015799" "0" "90" "19" "42777457" "42777457" "subst" "0" "02325" "CIC_000137" "g.42777457C>T" "" "" "" "CIC(NM_001386298.1):c.1522C>T (p.R508*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042990" "0" "50" "19" "42776189" "42776189" "subst" "0" "01804" "CIC_000055" "g.42776189C>T" "" "" "" "CIC(NM_001304815.1):c.254C>T (p.P85L), CIC(NM_001386298.1):c.254C>T (p.(Pro85Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042991" "0" "50" "19" "42777949" "42777949" "subst" "0" "01804" "CIC_000138" "g.42777949G>A" "" "" "" "CIC(NM_001386298.1):c.2014G>A (p.(Val672Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042992" "0" "50" "19" "42778072" "42778072" "subst" "0" "01804" "CIC_000139" "g.42778072C>G" "" "" "" "CIC(NM_001386298.1):c.2137C>G (p.(Arg713Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042993" "0" "50" "19" "42778679" "42778679" "subst" "0" "01804" "CIC_000140" "g.42778679C>A" "" "" "" "CIC(NM_001386298.1):c.2744C>A (p.(Thr915Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042994" "0" "30" "19" "42796862" "42796862" "subst" "2.43847E-5" "02325" "CIC_000141" "g.42796862C>T" "" "" "" "CIC(NM_015125.5):c.3320C>T (p.P1107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042995" "0" "50" "19" "42797901" "42797901" "subst" "4.15693E-6" "01804" "CIC_000142" "g.42797901C>A" "" "" "" "CIC(NM_001386298.1):c.6680C>A (p.(Thr2227Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042996" "0" "30" "19" "42797938" "42797938" "subst" "0.000560785" "01804" "CIC_000143" "g.42797938G>A" "" "" "" "CIC(NM_001386298.1):c.6717G>A (p.(Lys2239=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046739" "0" "30" "19" "42795573" "42795573" "subst" "2.889E-5" "02325" "CIC_000006" "g.42795573G>A" "" "" "" "CIC(NM_001386298.1):c.5380G>A (p.(Gly1794Ser)), CIC(NM_015125.5):c.2653G>A (p.G885S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CIC ## Count = 191 "{{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}}" "0000254853" "00005185" "30" "4791" "0" "4791" "0" "c.4791A>C" "r.(?)" "p.(Pro1597=)" "" "0000273567" "00005185" "10" "4783" "0" "4783" "0" "c.4783T>C" "r.(?)" "p.(Ser1595Pro)" "" "0000273568" "00005185" "30" "2814" "0" "2814" "0" "c.2814C>T" "r.(?)" "p.(Ala938=)" "" "0000273569" "00005185" "30" "3201" "0" "3201" "0" "c.3201C>G" "r.(?)" "p.(Pro1067=)" "" "0000326537" "00005185" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Ser77Leu)" "" "0000326540" "00005185" "50" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Ala774Val)" "" "0000326541" "00005185" "30" "2602" "0" "2602" "0" "c.2602C>G" "r.(?)" "p.(Pro868Ala)" "" "0000326542" "00005185" "30" "2653" "0" "2653" "0" "c.2653G>A" "r.(?)" "p.(Gly885Ser)" "" "0000326544" "00005185" "50" "3961" "0" "3961" "0" "c.3961C>T" "r.(?)" "p.(Arg1321Cys)" "" "0000326547" "00005185" "50" "4782" "0" "4782" "0" "c.4782dup" "r.(?)" "p.(Ser1595LeufsTer19)" "" "0000326548" "00005185" "30" "4783" "0" "4783" "0" "c.4783T>C" "r.(?)" "p.(Ser1595Pro)" "" "0000326549" "00005185" "50" "4797" "0" "4800" "0" "c.4797_4800del" "r.(?)" "p.(Gly1600ProfsTer19)" "" "0000326550" "00005185" "50" "4798" "0" "4798" "0" "c.4798G>C" "r.(?)" "p.(Gly1600Arg)" "" "0000326551" "00005185" "50" "4804" "0" "4804" "0" "c.4804T>C" "r.(?)" "p.(Ser1602Pro)" "" "0000326552" "00005185" "50" "6737" "0" "6737" "0" "c.*1910G>A" "r.(=)" "p.(=)" "" "0000368378" "00005185" "70" "601" "0" "601" "0" "c.601del" "r.(?)" "p.(Arg201Glyfs*4)" "" "0000368887" "00005185" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153Phe)" "" "0000472717" "00005185" "90" "1553" "0" "1553" "0" "c.1553dup" "r.(?)" "p.Asp519Glyfs*171" "" "0000567506" "00005185" "30" "-12345" "0" "-12345" "0" "c.-12345A>T" "r.(?)" "p.(=)" "" "0000567507" "00005185" "30" "-11350" "0" "-11350" "0" "c.-11350C>T" "r.(?)" "p.(=)" "" "0000567508" "00005185" "30" "-11284" "0" "-11284" "0" "c.-11284C>T" "r.(?)" "p.(=)" "" "0000567509" "00005185" "30" "-11254" "0" "-11254" "0" "c.-11254G>A" "r.(?)" "p.(=)" "" "0000567510" "00005185" "50" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Trp)" "" "0000567511" "00005185" "30" "765" "5" "765" "5" "c.765+5C>T" "r.spl?" "p.?" "" "0000567513" "00005185" "30" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Pro518Ser)" "" "0000567514" "00005185" "30" "1973" "0" "1973" "0" "c.1973G>A" "r.(?)" "p.(Gly658Glu)" "" "0000567516" "00005185" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Gln954Ter)" "" "0000567517" "00005185" "30" "3008" "7" "3008" "7" "c.3008+7G>A" "r.(=)" "p.(=)" "" "0000567518" "00005185" "30" "3291" "0" "3291" "0" "c.3291T>C" "r.(?)" "p.(Ser1097=)" "" "0000567521" "00005185" "50" "4535" "0" "4535" "0" "c.4535G>A" "r.(?)" "p.(Arg1512His)" "" "0000567523" "00005185" "30" "4779" "0" "4779" "0" "c.4779dup" "r.(?)" "p.(Pro1594AlafsTer20)" "" "0000579062" "00005185" "70" "1008" "0" "1009" "0" "c.1008_1009dup" "r.(?)" "p.(Gly337Valfs*33)" "" "0000579064" "00005185" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353*)" "" "0000617646" "00005185" "50" "-11094" "0" "-11094" "0" "c.-11094C>T" "r.(?)" "p.(=)" "" "0000617647" "00005185" "50" "4790" "0" "4790" "0" "c.4790dup" "r.(?)" "p.(Pro1598ThrfsTer16)" "" "0000617648" "00005185" "50" "4807" "0" "4807" "0" "c.4807A>C" "r.(?)" "p.(Thr1603Pro)" "" "0000624016" "00005185" "30" "-12641" "0" "-12641" "0" "c.-12641A>G" "r.(?)" "p.(=)" "" "0000624017" "00005185" "30" "2595" "0" "2595" "0" "c.2595C>T" "r.(?)" "p.(Thr865=)" "" "0000658584" "00005185" "30" "-12830" "0" "-12830" "0" "c.-12830G>T" "r.(?)" "p.(=)" "" "0000658585" "00005185" "30" "-12193" "0" "-12193" "0" "c.-12193T>C" "r.(?)" "p.(=)" "" "0000658586" "00005185" "30" "-12152" "0" "-12152" "0" "c.-12152C>T" "r.(?)" "p.(=)" "" "0000658587" "00005185" "70" "955" "0" "955" "0" "c.955dup" "r.(?)" "p.(Ala319GlyfsTer88)" "" "0000658588" "00005185" "30" "2375" "0" "2375" "0" "c.2375C>T" "r.(?)" "p.(Ala792Val)" "" "0000681425" "00005185" "30" "-12668" "0" "-12668" "0" "c.-12668C>T" "r.(?)" "p.(=)" "" "0000681427" "00005185" "90" "-11421" "0" "-11421" "0" "c.-11421C>T" "r.(?)" "p.(=)" "" "0000681428" "00005185" "30" "4497" "0" "4497" "0" "c.4497C>T" "r.(?)" "p.(Asp1499=)" "" "0000692808" "00005185" "30" "-12503" "0" "-12503" "0" "c.-12503G>A" "r.(?)" "p.(=)" "" "0000692809" "00005185" "30" "463" "0" "463" "0" "c.463A>T" "r.(?)" "p.(Ile155Phe)" "" "0000692810" "00005185" "50" "1416" "0" "1416" "0" "c.1416C>T" "r.(?)" "p.(Thr472=)" "" "0000692811" "00005185" "30" "2552" "0" "2552" "0" "c.2552C>T" "r.(?)" "p.(Ala851Val)" "" "0000692812" "00005185" "50" "3166" "0" "3166" "0" "c.3166C>G" "r.(?)" "p.(Leu1056Val)" "" "0000692813" "00005185" "30" "3589" "0" "3589" "0" "c.3589T>C" "r.(?)" "p.(Ser1197Pro)" "" "0000692814" "00005185" "50" "4246" "0" "4248" "0" "c.4246_4248dup" "r.(?)" "p.(Arg1417dup)" "" "0000692815" "00005185" "50" "4777" "0" "4778" "0" "c.4777_4778insCG" "r.(?)" "p.(Gln1593ProfsTer28)" "" "0000692816" "00005185" "50" "4778" "0" "4778" "0" "c.4778A>C" "r.(?)" "p.(Gln1593Pro)" "" "0000692817" "00005185" "50" "4779" "0" "4780" "0" "c.4779_4780insGGC" "r.(?)" "p.(Gln1593_Pro1594insGly)" "" "0000708715" "00005185" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353*)" "" "0000708716" "00005185" "90" "1801" "0" "1808" "0" "c.1801_1808dup" "r.(?)" "p.(Glu604Argfs*127)" "" "0000708717" "00005185" "90" "1801" "0" "1808" "0" "c.1801_1808dup" "r.(?)" "p.(Glu604Argfs*127)" "" "0000708718" "00005185" "90" "2571" "0" "2578" "0" "c.2571_2578delinsC" "r.(?)" "p.(Thr859Alafs*63)" "" "0000708719" "00005185" "90" "2974" "0" "2974" "0" "c.2974C>T" "r.(?)" "p.(Gln992*)" "" "0000708728" "00005185" "70" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000708737" "00005185" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353*)" "" "0000708738" "00005185" "90" "1008" "0" "1009" "0" "c.1008_1009insTG" "r.(?)" "p.(Gly337Trpfs*33)" "" "0000708739" "00005185" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Glu236Lys)" "" "0000708740" "00005185" "90" "2462" "0" "2462" "0" "c.2462del" "r.(?)" "p.(Gly821Glufs*103)" "" "0000708756" "00005185" "90" "2694" "0" "2694" "0" "c.2694dup" "r.(?)" "p.(Lys899Glnfs*32)" "" "0000727392" "00005185" "30" "-12716" "0" "-12716" "0" "c.-12716G>A" "r.(?)" "p.(=)" "" "0000727393" "00005185" "50" "-12576" "0" "-12576" "0" "c.-12576C>T" "r.(?)" "p.(=)" "" "0000727394" "00005185" "50" "-11498" "0" "-11498" "0" "c.-11498C>T" "r.(?)" "p.(=)" "" "0000727395" "00005185" "50" "-11388" "0" "-11388" "0" "c.-11388A>G" "r.(?)" "p.(=)" "" "0000727396" "00005185" "50" "-11267" "0" "-11267" "0" "c.-11267G>A" "r.(?)" "p.(=)" "" "0000727397" "00005185" "30" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Glu137Gly)" "" "0000727398" "00005185" "70" "1250" "0" "1250" "0" "c.1250del" "r.(?)" "p.(Pro417Argfs*18)" "" "0000727399" "00005185" "50" "2793" "0" "2793" "0" "c.2793G>A" "r.(?)" "p.(Met931Ile)" "" "0000727400" "00005185" "50" "3956" "0" "3956" "0" "c.3956C>T" "r.(?)" "p.(Pro1319Leu)" "" "0000808897" "00005185" "30" "-12544" "0" "-12544" "0" "c.-12544C>T" "r.(?)" "p.(=)" "" "0000808898" "00005185" "50" "-12504" "0" "-12504" "0" "c.-12504C>T" "r.(?)" "p.(=)" "" "0000808899" "00005185" "30" "-12345" "0" "-12345" "0" "c.-12345A>T" "r.(?)" "p.(=)" "" "0000808900" "00005185" "30" "-11284" "0" "-11284" "0" "c.-11284C>T" "r.(?)" "p.(=)" "" "0000808901" "00005185" "30" "-10642" "0" "-10642" "0" "c.-10642G>A" "r.(?)" "p.(=)" "" "0000808902" "00005185" "30" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Gly712Ser)" "" "0000808903" "00005185" "50" "3009" "-5" "3009" "-5" "c.3009-5G>A" "r.spl?" "p.?" "" "0000808904" "00005185" "30" "4656" "0" "4656" "0" "c.4656C>T" "r.(?)" "p.(Ser1552=)" "" "0000810833" "00005185" "70" "1026" "0" "1026" "0" "c.1026dup" "r.(?)" "p.(Thr343Hisfs*64)" "" "0000877320" "00005185" "90" "2011" "0" "2011" "0" "c.2011A>G" "r.(?)" "p.(Met671Val)" "" "0000877321" "00005185" "90" "4356" "0" "4356" "0" "c.4356G>C" "r.(?)" "p.(Glu1452Asp)" "" "0000880858" "00005185" "70" "1502" "0" "1502" "0" "c.1502C>G" "r.(?)" "p.(Ser501Cys)" "" "0000880859" "00005185" "70" "1777" "0" "1777" "0" "c.1777A>G" "r.(?)" "p.(Met593Val)" "" "0000880860" "00005185" "70" "1997" "0" "1997" "0" "c.1997G>A" "r.(?)" "p.(Arg666His)" "" "0000880861" "00005185" "70" "3521" "0" "3521" "0" "c.3521C>T" "r.(?)" "p.(Pro1174Leu)" "" "0000880862" "00005185" "70" "3586" "0" "3586" "0" "c.3586G>A" "r.(?)" "p.(Ala1196Thr)" "" "0000880863" "00005185" "70" "3614" "0" "3614" "0" "c.3614G>A" "r.(?)" "p.(Arg1205Gln)" "" "0000881245" "00005185" "90" "436" "0" "437" "0" "c.436_437del" "r.(?)" "p.(Ser146Ter)" "" "0000895018" "00005185" "50" "-12404" "0" "-12404" "0" "c.-12404C>T" "r.(?)" "p.(=)" "" "0000895018" "00025836" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "" "0000895019" "00005185" "50" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Ser385Leu)" "" "0000895019" "00025836" "50" "3881" "0" "3881" "0" "c.3881C>T" "r.(?)" "p.(Ser1294Leu)" "" "0000895020" "00005185" "90" "2746" "0" "2746" "0" "c.2746C>T" "r.(?)" "p.(Gln916*)" "" "0000895020" "00025836" "90" "5473" "0" "5473" "0" "c.5473C>T" "r.(?)" "p.(Gln1825*)" "" "0000908912" "00005185" "90" "452" "1" "452" "1" "c.452+1G>T" "r.359_452del" "p.Gly120Alafs*54" "" "0000915243" "00005185" "50" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000915243" "00025836" "50" "4201" "0" "4201" "0" "c.4201C>T" "r.(?)" "p.(Arg1401Trp)" "" "0000926898" "00005185" "50" "-11268" "0" "-11268" "0" "c.-11268C>T" "r.(?)" "p.(=)" "" "0000926898" "00025836" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Cys)" "" "0000926899" "00005185" "50" "3308" "0" "3309" "0" "c.3308_3309insTCCTGCACCCAC" "r.(?)" "p.(Pro1100_Thr1103dup)" "" "0000926899" "00025836" "50" "6035" "0" "6036" "0" "c.6035_6036insTCCTGCACCCAC" "r.(?)" "p.(Pro2009_Thr2012dup)" "" "0000927856" "00005185" "70" "-12576" "0" "-12576" "0" "c.-12576C>T" "r.(?)" "p.(?)" "" "0000927856" "00025836" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116*)" "" "0000931063" "00005185" "50" "-11352" "0" "-11352" "0" "c.-11352C>T" "r.(?)" "p.(=)" "" "0000931063" "00025836" "50" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(His524Tyr)" "" "0000951307" "00005185" "50" "-12620" "0" "-12620" "0" "c.-12620G>A" "r.(?)" "p.(=)" "" "0000951307" "00025836" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "0000951308" "00005185" "50" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440His)" "" "0000951308" "00025836" "50" "4046" "0" "4046" "0" "c.4046G>A" "r.(?)" "p.(Arg1349His)" "" "0000951309" "00005185" "30" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Pro581Ser)" "" "0000951309" "00025836" "30" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Pro1490Ser)" "" "0000951310" "00005185" "30" "2926" "0" "2926" "0" "c.2926G>A" "r.(?)" "p.(Gly976Ser)" "" "0000951310" "00025836" "30" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Gly1885Ser)" "" "0000969782" "00005185" "50" "1738" "0" "1738" "0" "c.1738G>A" "r.(?)" "p.(Gly580Ser)" "" "0000969782" "00025836" "50" "4465" "0" "4465" "0" "c.4465G>A" "r.(?)" "p.(Gly1489Ser)" "" "0000983491" "00005185" "30" "-12716" "0" "-12716" "0" "c.-12716G>A" "r.(?)" "p.(=)" "" "0000983492" "00005185" "30" "-12641" "0" "-12641" "0" "c.-12641A>G" "r.(?)" "p.(=)" "" "0000983493" "00005185" "30" "-12503" "0" "-12503" "0" "c.-12503G>A" "r.(?)" "p.(=)" "" "0000983494" "00005185" "50" "-12404" "0" "-12404" "0" "c.-12404C>T" "r.(?)" "p.(=)" "" "0000983494" "00025836" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ala173Val)" "" "0000983495" "00005185" "50" "-12372" "0" "-12372" "0" "c.-12372G>T" "r.(?)" "p.(=)" "" "0000983495" "00025836" "50" "550" "0" "550" "0" "c.550G>T" "r.(?)" "p.(Gly184Cys)" "" "0000983496" "00005185" "30" "-12248" "0" "-12248" "0" "c.-12248G>A" "r.(?)" "p.(=)" "" "0000983496" "00025836" "30" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225His)" "" "0000983497" "00005185" "50" "-12104" "0" "-12104" "0" "c.-12104G>A" "r.(?)" "p.(=)" "" "0000983497" "00025836" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Cys273Tyr)" "" "0000983498" "00005185" "30" "115" "0" "115" "0" "c.115T>G" "r.(?)" "p.(Ser39Ala)" "" "0000983498" "00025836" "30" "2842" "0" "2842" "0" "c.2842T>G" "r.(?)" "p.(Ser948Ala)" "" "0000983499" "00005185" "30" "2574" "0" "2574" "0" "c.2574C>G" "r.(?)" "p.(=)" "" "0000983499" "00025836" "30" "5301" "0" "5301" "0" "c.5301C>G" "r.(?)" "p.(Pro1767=)" "" "0000983500" "00005185" "30" "4660" "0" "4660" "0" "c.4660G>T" "r.(?)" "p.(Ala1554Ser)" "" "0000983500" "00025836" "30" "7387" "0" "7387" "0" "c.7387G>T" "r.(?)" "p.(Ala2463Ser)" "" "0000983501" "00005185" "50" "4779" "0" "4780" "0" "c.4779_4780insGGGGGCC" "r.(?)" "p.(Pro1594Glyfs*22)" "" "0000983501" "00025836" "50" "7506" "0" "7507" "0" "c.7506_7507insGGGGGCC" "r.(?)" "p.(Pro2503Glyfs*22)" "" "0001004814" "00005185" "90" "-12034" "0" "-12034" "0" "c.-12034C>G" "r.(?)" "p.(=)" "" "0001004814" "00025836" "90" "888" "0" "888" "0" "c.888C>G" "r.(?)" "p.(Tyr296*)" "" "0001004815" "00005185" "50" "328" "0" "328" "0" "c.328C>A" "r.(?)" "p.(Pro110Thr)" "" "0001004815" "00025836" "50" "3055" "0" "3055" "0" "c.3055C>A" "r.(?)" "p.(Pro1019Thr)" "" "0001004816" "00005185" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" "" "0001004816" "00025836" "50" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Arg1104Gln)" "" "0001004817" "00005185" "50" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Arg425His)" "" "0001004817" "00025836" "50" "4001" "0" "4001" "0" "c.4001G>A" "r.(?)" "p.(Arg1334His)" "" "0001004818" "00005185" "30" "1409" "0" "1409" "0" "c.1409G>A" "r.(?)" "p.(Arg470Gln)" "" "0001004818" "00025836" "30" "4136" "0" "4136" "0" "c.4136G>A" "r.(?)" "p.(Arg1379Gln)" "" "0001004819" "00005185" "30" "1464" "7" "1464" "7" "c.1464+7dup" "r.(=)" "p.(=)" "" "0001004819" "00025836" "30" "4191" "7" "4191" "7" "c.4191+7dup" "r.(=)" "p.(=)" "" "0001004820" "00005185" "50" "1617" "0" "1628" "0" "c.1617_1628dup" "r.(?)" "p.(Ser542_Ser545dup)" "" "0001004820" "00025836" "50" "4344" "0" "4355" "0" "c.4344_4355dup" "r.(?)" "p.(Ser1451_Ser1454dup)" "" "0001004821" "00005185" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Thr567Ile)" "" "0001004821" "00025836" "50" "4427" "0" "4427" "0" "c.4427C>T" "r.(?)" "p.(Thr1476Ile)" "" "0001004822" "00005185" "30" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600His)" "" "0001004822" "00025836" "30" "4526" "0" "4526" "0" "c.4526G>A" "r.(?)" "p.(Arg1509His)" "" "0001004823" "00005185" "30" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Glu639Lys)" "" "0001004823" "00025836" "30" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Glu1548Lys)" "" "0001004824" "00005185" "30" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Ala699Val)" "" "0001004825" "00005185" "30" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Ala928Thr)" "" "0001004825" "00025836" "30" "5509" "0" "5509" "0" "c.5509G>A" "r.(?)" "p.(Ala1837Thr)" "" "0001004826" "00005185" "30" "3290" "0" "3290" "0" "c.3290C>G" "r.(?)" "p.(Ser1097Cys)" "" "0001004826" "00025836" "30" "6017" "0" "6017" "0" "c.6017C>G" "r.(?)" "p.(Ser2006Cys)" "" "0001004827" "00005185" "50" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Gly1158Ser)" "" "0001004827" "00025836" "50" "6199" "0" "6199" "0" "c.6199G>A" "r.(?)" "p.(Gly2067Ser)" "" "0001004828" "00005185" "30" "4327" "4" "4327" "4" "c.4327+4C>A" "r.spl?" "p.?" "" "0001004828" "00025836" "30" "7054" "4" "7054" "4" "c.7054+4C>A" "r.spl?" "p.?" "" "0001004829" "00005185" "30" "4615" "0" "4615" "0" "c.4615C>T" "r.(?)" "p.(Pro1539Ser)" "" "0001004829" "00025836" "30" "7342" "0" "7342" "0" "c.7342C>T" "r.(?)" "p.(Pro2448Ser)" "" "0001004830" "00005185" "30" "4699" "0" "4699" "0" "c.4699G>A" "r.(?)" "p.(Gly1567Ser)" "" "0001004830" "00025836" "30" "7426" "0" "7426" "0" "c.7426G>A" "r.(?)" "p.(Gly2476Ser)" "" "0001004831" "00005185" "30" "4777" "0" "4778" "0" "c.4777_4778insCG" "r.(?)" "p.(Gln1593ProfsTer28)" "" "0001004832" "00005185" "50" "6860" "0" "6860" "0" "c.*2033T>C" "r.(=)" "p.(=)" "" "0001015799" "00005185" "90" "-11400" "0" "-11400" "0" "c.-11400C>T" "r.(?)" "p.(=)" "" "0001015799" "00025836" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508*)" "" "0001042990" "00005185" "50" "-12668" "0" "-12668" "0" "c.-12668C>T" "r.(?)" "p.(=)" "" "0001042991" "00005185" "50" "-10908" "0" "-10908" "0" "c.-10908G>A" "r.(?)" "p.(=)" "" "0001042991" "00025836" "50" "2014" "0" "2014" "0" "c.2014G>A" "r.(?)" "p.(Val672Met)" "" "0001042992" "00005185" "50" "-10785" "0" "-10785" "0" "c.-10785C>G" "r.(?)" "p.(=)" "" "0001042992" "00025836" "50" "2137" "0" "2137" "0" "c.2137C>G" "r.(?)" "p.(Arg713Gly)" "" "0001042993" "00005185" "50" "-10178" "0" "-10178" "0" "c.-10178C>A" "r.(?)" "p.(=)" "" "0001042993" "00025836" "50" "2744" "0" "2744" "0" "c.2744C>A" "r.(?)" "p.(Thr915Asn)" "" "0001042994" "00005185" "30" "3320" "0" "3320" "0" "c.3320C>T" "r.(?)" "p.(Pro1107Leu)" "" "0001042994" "00025836" "30" "6047" "0" "6047" "0" "c.6047C>T" "r.(?)" "p.(Pro2016Leu)" "" "0001042995" "00005185" "50" "3953" "0" "3953" "0" "c.3953C>A" "r.(?)" "p.(Thr1318Asn)" "" "0001042995" "00025836" "50" "6680" "0" "6680" "0" "c.6680C>A" "r.(?)" "p.(Thr2227Asn)" "" "0001042996" "00005185" "30" "3990" "0" "3990" "0" "c.3990G>A" "r.(?)" "p.(=)" "" "0001042996" "00025836" "30" "6717" "0" "6717" "0" "c.6717G>A" "r.(?)" "p.(Lys2239=)" "" "0001046739" "00005185" "30" "2653" "0" "2653" "0" "c.2653G>A" "r.(?)" "p.(Gly885Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000164776" "0000368378" "0000165229" "0000368887" "0000231024" "0000472717" "0000249980" "0000579062" "0000249983" "0000579064" "0000325594" "0000708715" "0000325595" "0000708716" "0000325596" "0000708717" "0000325597" "0000708718" "0000325598" "0000708719" "0000325603" "0000708728" "0000325614" "0000708737" "0000325615" "0000708738" "0000325616" "0000708739" "0000325617" "0000708740" "0000325630" "0000708756" "0000384268" "0000810833" "0000417601" "0000877320" "0000417602" "0000877321" "0000420503" "0000880858" "0000420504" "0000880859" "0000420505" "0000880860" "0000420505" "0000880863" "0000420506" "0000880861" "0000420507" "0000880862" "0000420886" "0000881245" "0000429439" "0000908912" "0000436730" "0000927856"