### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CRADD) # 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}}" "CRADD" "CASP2 and RIPK1 domain containing adaptor with death domain" "12" "q21.33-q23.1" "unknown" "NC_000012.11" "UD_136021683487" "" "https://www.LOVD.nl/CRADD" "" "1" "2340" "8738" "603454" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CRADD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-26 20:46:52" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005644" "CRADD" "CASP2 and RIPK1 domain containing adaptor with death domain" "001" "NM_003805.3" "" "NP_003796.1" "" "" "" "-104" "1085" "600" "94071151" "94244532" "" "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" "00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "00006" "2015-12-07 07:11:25" "01106" "MRT34" "mental retardation, autosomal recessive, type 34 (MRT-34)" "AR" "614499" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CRADD" "00139" "CRADD" "01106" ## Individuals ## Do not remove or alter this header ## ## Count = 45 "{{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}}" "00207614" "" "" "" "2" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "yes" "Finland" "" "0" "" "" "" "FIN-1_IX-1" "00207617" "" "" "00207614" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "yes" "Finland" "" "0" "" "" "" "FIN-1_IX-2" "00207623" "" "" "" "2" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-2_IX-4" "00207624" "" "" "00207623" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-2_ IX-6" "00207625" "" "" "" "3" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "yes" "Finland" "" "" "" "" "" "FIN-3_ V-5" "00207626" "" "" "00207625" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "yes" "Finland" "" "" "" "" "" "FIN-3_ V-6" "00207627" "" "" "00207625" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "yes" "Finland" "" "" "" "" "" "FIN-3_ V-8" "00207630" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-4_ IX-8" "00207631" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-5_ IX-4" "00207632" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-6_ IX-10" "00207633" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-7_ II-1" "00207634" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "yes" "Finland" "" "" "" "" "" "FIN-8_ III-1" "00207635" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-9_ III-4" "00207636" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-10_ IX-6" "00207638" "" "" "" "2" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-11_ III-1" "00207639" "" "" "00207638" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-11_ III-3" "00207640" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-12_VII-1" "00207641" "" "" "" "2" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-13_ VIII-2" "00207642" "" "" "00207641" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "" "" "" "" "FIN-13_ VIII-3" "00207643" "" "" "" "1" "" "03116" "{PMID:Polla 2019:30914828}" "" "F" "no" "Finland" "" "" "" "" "" "FIN-14_VIII-9" "00207644" "" "" "" "2" "" "03116" "{PMID:Avela 2012:23022981}, {PMID:Polla 2019:30914828}" "family, 2 affected brothers" "M" "no" "Finland" "" "0" "" "" "" "FIN-15_ II-2" "00207646" "" "" "00207644" "1" "" "03116" "{PMID:Avela 2012:23022981}, {PMID:Polla 2019:30914828}" "" "M" "no" "Finland" "" "0" "" "" "" "FIN-15_ II-3" "00275662" "" "" "" "3" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR123Pat3" "00275663" "" "" "00275662" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR123Pat5" "00374605" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3540" "00408976" "" "" "" "5" "" "00000" "{PMID:Puffenberger 2012:22279524}" "large family (>5 affected), no patient number in publication, consecutive numbers given" "?" "" "United States" "" "0" "" "" "Amish;Mennonite" "FamPat5" "00408977" "" "" "00408976" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "relative" "?" "" "United States" "" "0" "" "" "Amish;Mennonite" "FamPat6" "00408978" "" "" "00408976" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "relative" "?" "" "United States" "" "0" "" "" "Amish;Mennonite" "FamPat7" "00408979" "" "" "00408976" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "relative" "?" "" "United States" "" "0" "" "" "Amish;Mennonite" "FamPat8" "00408980" "" "" "00408976" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "relative" "?" "" "United States" "" "0" "" "" "Amish;Mennonite" "FamPat9" "00433319" "" "" "" "2" "" "00006" "{PMID:Jacquemin 2023:36859317}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Finland" "" "0" "" "" "" "Fam15Pat1" "00433320" "" "" "00433319" "1" "" "00006" "{PMID:Jacquemin 2023:36859317}" "brother" "M" "no" "Finland" "" "0" "" "" "" "Fam15Pat2" "00443445" "" "" "" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "patient" "F" "" "United States" "" "0" "" "" "Finland" "LR00-150" "00443446" "" "" "" "1" "" "00006" "{PMID:Sajan 2013:24098143}, {PMID:Di Donato 2016:27773430}" "patient" "M" "" "United States" "" "0" "" "" "Europe-W" "LR02-006" "00443447" "" "" "" "2" "" "00006" "{PMID:Di Donato 2016:27773430}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "United States" "" "0" "" "" "Mennonite" "LR04-101a1" "00443448" "" "" "00443447" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "sister" "F" "yes" "United States" "" "0" "" "" "Mennonite" "LR04-101a2" "00443449" "" "" "" "2" "" "00006" "{PMID:Di Donato 2016:27773430}" "2-generation family, affected brother/sister, unaffected heterozygous parents (1st cousins)" "M" "" "Turkey" "" "0" "" "" "" "LR05-279a1" "00443450" "" "" "00443449" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "sister" "F" "" "Turkey" "" "0" "" "" "" "LR05-279a2" "00443451" "" "" "" "7" "" "00006" "{PMID:Di Donato 2016:27773430}" "large family, 7 affected (F, 6M)" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a1" "00443452" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a2" "00443453" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a3" "00443454" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a4" "00443455" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a5" "00443456" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "M" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a6" "00443457" "" "" "00443451" "1" "" "00006" "{PMID:Di Donato 2016:27773430}" "relative" "F" "yes" "United States" "" "0" "" "" "Mennonite" "LR15-293a7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 45 "{{individualid}}" "{{diseaseid}}" "00207614" "01106" "00207617" "01106" "00207623" "01106" "00207624" "01106" "00207625" "01106" "00207626" "01106" "00207627" "01106" "00207630" "01106" "00207631" "01106" "00207632" "01106" "00207633" "01106" "00207634" "01106" "00207635" "01106" "00207636" "01106" "00207638" "01106" "00207639" "01106" "00207640" "01106" "00207641" "01106" "00207642" "01106" "00207643" "01106" "00207644" "01106" "00207646" "01106" "00275662" "00139" "00275663" "00139" "00374605" "00198" "00408976" "05533" "00408977" "05533" "00408978" "05533" "00408979" "05533" "00408980" "05533" "00433319" "00307" "00433320" "00307" "00443445" "00198" "00443446" "00198" "00443447" "00198" "00443448" "00198" "00443449" "00198" "00443450" "00198" "00443451" "00198" "00443452" "00198" "00443453" "00198" "00443454" "00198" "00443455" "00198" "00443456" "00198" "00443457" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00307, 01106, 05533 ## Count = 23 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000210273" "00139" "00275662" "00006" "Familial, autosomal recessive" "10y" "OFC 50cm; IQ 55, mild intellectual disability (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210274" "00139" "00275663" "00006" "Familial, autosomal recessive" "17y" "OFC 54cm; IQ 55, mild intellectual disability (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269815" "00198" "00374605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000301094" "05533" "00408976" "00000" "Familial, autosomal recessive" "" "delayed language development; mild-moderate mental retardation" "" "" "" "" "" "" "" "" "" "mental retardation (MR, intellectual disability (ID))" "" "" "0000301095" "05533" "00408977" "00000" "Familial, autosomal recessive" "" "delayed language development; mild-moderate mental retardation" "" "" "" "" "" "" "" "" "" "mental retardation (MR, intellectual disability (ID))" "" "" "0000301096" "05533" "00408978" "00000" "Familial, autosomal recessive" "" "delayed language development; mild-moderate mental retardation" "" "" "" "" "" "" "" "" "" "mental retardation (MR, intellectual disability (ID))" "" "" "0000301097" "05533" "00408979" "00000" "Familial, autosomal recessive" "" "delayed language development; mild-moderate mental retardation" "" "" "" "" "" "" "" "" "" "mental retardation (MR, intellectual disability (ID))" "" "" "0000301098" "05533" "00408980" "00000" "Familial, autosomal recessive" "" "delayed language development; mild-moderate mental retardation" "" "" "" "" "" "" "" "" "" "mental retardation (MR, intellectual disability (ID))" "" "" "0000323840" "00307" "00433319" "00006" "Familial, autosomal recessive" "" "hydrocephaly (OFC 37cm (+1SD)); MRI pachygyria" "" "" "" "" "" "" "" "" "" "" "hydrocephaly" "" "0000323841" "00307" "00433320" "00006" "Familial, autosomal recessive" "" "hydrocephaly; macrocephaly (OFC 40.5cm (+3SD)); MRI pachygyria" "" "" "" "" "" "" "" "" "" "" "hydrocephaly" "" "0000332787" "00198" "00443445" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., OFC 60.9 cm (+3.6SD), true megalencephaly; mild intellectual disability; well controlled seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332788" "00198" "00443446" "00006" "Familial, autosomal recessive" "18y" "see paper, ..., height 176.5 cm (-0.3SD), weight 67 kg (-0.6SD), OFC 59.7 cm (+2SD), mild megalencephaly; mild intellectual disability; 2 generalized tonic-clonic seizures at time of papilloma diagnosis, no recurrence, no treatment after surgery; 8y-atypical choroid plexus papilloma, WHO grade 2" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332789" "00198" "00443447" "00006" "Familial, autosomal recessive" "17y" "see paper, ..., height 157.5 cm (-1.51SD), weight 60.4kg (+0.24SD), OFC 57.8 cm (+2SD), mild megalencephaly; mild intellectual disability; 12m-generalized nonconvulsive seizures, well controlled" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332790" "00198" "00443448" "00006" "Familial, autosomal recessive" "13y" "see paper, ..., height 146.7 cm (-2SD), weight 40.1 kg (-1.55SD), OFC 54.5 cm (+0.1SD), relative megalencephaly; mild-moderate intellectual disability; 18m-generalized nonconvulsive seizures, well controlled" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332791" "00198" "00443449" "00006" "Familial, autosomal recessive" "23y" "see paper, ..., height 178 cm (-0.4SD), weight 79.7 kg (+0.85SD), OFC 60 cm (+2.7SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332792" "00198" "00443450" "00006" "Familial, autosomal recessive" "21y" "see paper, ..., height 163.5 cm (-0.7SD), weight 71.1 kg (+1.3SD), OFC 59.5 cm (+3.5SD), true megalencephaly; mild-moderate intellectual disability; no seizures; Chiari malformation, hydrocephalus with shunt" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332793" "00198" "00443451" "00006" "Familial, autosomal recessive" "19y" "see paper, ..., height 177,8 cm (-0.19SD), weight 75 kg (-0.19SD), OFC 57.5 cm (+0.4SD), no megalencephaly; borderline-mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332794" "00198" "00443452" "00006" "Familial, autosomal recessive" "14y" "see paper, ..., height 162.6 cm (-1.1SD), weight 62 kg (+0.27SD), OFC 58.8 cm (+2.1SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332795" "00198" "00443453" "00006" "Familial, autosomal recessive" "47y" "see paper, ..., height 170.2 cm (-1.53SD), weight 81.1 (+0.98SD), OFC 58.9 cm (+2.1SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332796" "00198" "00443454" "00006" "Familial, autosomal recessive" "17y" "see paper, ..., height 174.6 cm (-0.61SD), weight 78 kg (+0.59SD), OFC 58.3 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332797" "00198" "00443455" "00006" "Familial, autosomal recessive" "10y" "see paper, ..., height 143.5 cm (-0.16SD), weight 52.6 kg (+1.45SD), OFC 56.5 cm (+2SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332798" "00198" "00443456" "00006" "Familial, autosomal recessive" "38y" "see paper, ..., height 173.4 cm (-0.83SD), weight 82.6 kg (+0.85SD), OFC 59.2 cm (+2.2SD), mild megalencephaly; mild intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "MRT34" "lissencephaly, megalencephaly" "" "0000332799" "00198" "00443457" "00006" "Familial, autosomal recessive" "33y" "see paper, ..., height 160.7 cm (-0.79SD), weight 70.1 kg (+0.89SD), OFC 58.5 cm (+2.4SD), mild megalencephaly; mild-moderate intellectual disability; no seizures" "" "" "" "" "" "" "" "" "" "" "lissencephaly, megalencephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208653" "00207614" "1" "03116" "03116" "2018-11-26 17:00:17" "" "" "SEQ-NG" "DNA" "" "" "0000208656" "00207617" "1" "03116" "03116" "2018-11-26 17:08:18" "" "" "SEQ-NG" "DNA" "" "" "0000208661" "00207623" "1" "03116" "03116" "2018-11-26 17:27:58" "" "" "SEQ-NG" "DNA" "" "" "0000208663" "00207624" "1" "03116" "03116" "2018-11-26 17:29:47" "" "" "SEQ-NG" "DNA" "" "" "0000208664" "00207625" "1" "03116" "03116" "2018-11-26 17:32:11" "" "" "PCR" "DNA" "" "" "0000208665" "00207626" "1" "03116" "03116" "2018-11-26 17:33:27" "" "" "PCR" "DNA" "" "" "0000208666" "00207627" "1" "03116" "03116" "2018-11-26 17:34:41" "" "" "PCR" "DNA" "" "" "0000208667" "00207630" "1" "03116" "03116" "2018-11-26 17:36:30" "" "" "PCR" "DNA" "" "" "0000208668" "00207631" "1" "03116" "03116" "2018-11-26 17:37:52" "" "" "PCR" "DNA" "" "" "0000208670" "00207632" "1" "03116" "03116" "2018-11-26 17:38:50" "" "" "PCR" "DNA" "" "" "0000208672" "00207633" "1" "03116" "03116" "2018-11-26 17:40:18" "" "" "PCR" "DNA" "" "" "0000208673" "00207634" "1" "03116" "03116" "2018-11-26 17:41:24" "" "" "PCR" "DNA" "" "" "0000208674" "00207635" "1" "03116" "03116" "2018-11-26 17:42:25" "" "" "PCR" "DNA" "" "" "0000208675" "00207636" "1" "03116" "03116" "2018-11-26 17:43:23" "" "" "PCR" "DNA" "" "" "0000208676" "00207638" "1" "03116" "03116" "2018-11-26 17:44:22" "" "" "PCR" "DNA" "" "" "0000208677" "00207639" "1" "03116" "03116" "2018-11-26 17:45:47" "" "" "PCR" "DNA" "" "" "0000208679" "00207640" "1" "03116" "03116" "2018-11-26 17:46:46" "" "" "PCR" "DNA" "" "" "0000208680" "00207641" "1" "03116" "03116" "2018-11-26 17:47:45" "" "" "PCR" "DNA" "" "" "0000208681" "00207642" "1" "03116" "03116" "2018-11-26 17:48:33" "" "" "PCR" "DNA" "" "" "0000208682" "00207643" "1" "03116" "03116" "2018-11-26 17:49:25" "" "" "PCR" "DNA" "" "" "0000208683" "00207644" "1" "03116" "03116" "2018-11-26 17:50:24" "" "" "PCR" "DNA" "" "" "0000208684" "00207646" "1" "03116" "03116" "2018-11-26 17:53:19" "" "" "PCR" "DNA" "" "" "0000276820" "00275662" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276821" "00275663" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000375799" "00374605" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000410241" "00408976" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410242" "00408977" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410243" "00408978" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410244" "00408979" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410245" "00408980" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000434773" "00433319" "1" "00006" "00006" "2023-03-04 19:42:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434774" "00433320" "1" "00006" "00006" "2023-03-04 19:42:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444936" "00443445" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444937" "00443446" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444938" "00443447" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444939" "00443448" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444940" "00443449" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444941" "00443450" "1" "00006" "00006" "2023-11-27 09:52:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444942" "00443451" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444943" "00443452" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444944" "00443453" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444945" "00443454" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444946" "00443455" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444947" "00443456" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" "0000444948" "00443457" "1" "00006" "00006" "2023-11-27 10:25:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{geneid}}" "0000208653" "CRADD" "0000208656" "CRADD" "0000208661" "CRADD" "0000208663" "CRADD" "0000208664" "CRADD" "0000208665" "CRADD" "0000208666" "CRADD" "0000208667" "CRADD" "0000208668" "CRADD" "0000208670" "CRADD" "0000208672" "CRADD" "0000208673" "CRADD" "0000208674" "CRADD" "0000208675" "CRADD" "0000208676" "CRADD" "0000208677" "CRADD" "0000208679" "CRADD" "0000208680" "CRADD" "0000208681" "CRADD" "0000208682" "CRADD" "0000208683" "CRADD" "0000208684" "CRADD" "0000276820" "CRADD" "0000276821" "CRADD" "0000375799" "CRADD" "0000410241" "CRADD" "0000410242" "CRADD" "0000410243" "CRADD" "0000410244" "CRADD" "0000410245" "CRADD" "0000444942" "CRADD" "0000444943" "CRADD" "0000444944" "CRADD" "0000444945" "CRADD" "0000444946" "CRADD" "0000444947" "CRADD" "0000444948" "CRADD" ## 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 = 54 "{{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}}" "0000267123" "0" "30" "12" "94072701" "94072701" "subst" "0.00126285" "02325" "CRADD_000001" "g.94072701C>A" "" "" "" "CRADD(NM_001320099.1):c.151C>A (p.L51I), CRADD(NM_003805.5):c.151C>A (p.L51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93678925C>A" "" "likely benign" "" "0000274383" "0" "30" "12" "94244044" "94244044" "subst" "0.000418614" "01943" "CRADD_000004" "g.94244044G>A" "" "" "" "CRADD(NM_001320099.1):c.597G>A (p.E199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93850268G>A" "" "likely benign" "" "0000323030" "0" "50" "12" "94243875" "94243875" "subst" "0.000219348" "01804" "CRADD_000003" "g.94243875C>T" "" "" "" "CRADD(NM_003805.3):c.428C>T (p.(Thr143Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93850099C>T" "" "VUS" "" "0000438577" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438580" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438583" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438585" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438588" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438589" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438590" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438591" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438592" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438593" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438595" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438597" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438598" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438599" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438600" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438601" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438603" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438605" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438607" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438608" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438609" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000438610" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "03116" "CRADD_000005" "g.94243956G>A" "" "{PMID:Polla 2019:30914828}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000614434" "0" "30" "12" "94072595" "94072595" "subst" "4.06957E-6" "01943" "CRADD_000007" "g.94072595G>C" "" "" "" "CRADD(NM_003805.4):c.45G>C (p.E15D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93678819G>C" "" "likely benign" "" "0000622996" "0" "30" "12" "94243993" "94243993" "subst" "5.75625E-5" "01943" "CRADD_000008" "g.94243993C>T" "" "" "" "CRADD(NM_001320099.1):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93850217C>T" "" "likely benign" "" "0000630959" "3" "90" "12" "94072835" "94072835" "dup" "0" "00006" "CRADD_000009" "g.94072835dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.283_284insC" "" "Germline" "" "" "0" "" "" "g.93679059dup" "" "pathogenic (recessive)" "" "0000630960" "3" "90" "12" "94072835" "94072835" "dup" "0" "00006" "CRADD_000009" "g.94072835dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.283_284insC" "" "Germline" "" "" "0" "" "" "g.93679059dup" "" "pathogenic (recessive)" "" "0000787150" "3" "50" "12" "94072835" "94072835" "dup" "0" "00006" "CRADD_000009" "g.94072835dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.285dupC" "" "Germline" "" "" "0" "" "" "g.93679059dup" "{CV-RCV:000502270.1}" "VUS" "" "0000805982" "0" "30" "12" "94072701" "94072701" "subst" "0.00126285" "01943" "CRADD_000001" "g.94072701C>A" "" "" "" "CRADD(NM_001320099.1):c.151C>A (p.L51I), CRADD(NM_003805.5):c.151C>A (p.L51I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847517" "3" "70" "12" "94243829" "94243829" "subst" "8.12222E-6" "00000" "CRADD_000010" "g.94243829G>C" "population-specific allele frequency: 1.72% (7/406)" "{PMID:Puffenberger 2012:22279524}" "" "CRADD c.382G>C, p.Gly128Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "likely pathogenic" "" "0000847518" "3" "70" "12" "94243829" "94243829" "subst" "8.12222E-6" "00000" "CRADD_000010" "g.94243829G>C" "population-specific allele frequency: 1.72% (7/406)" "{PMID:Puffenberger 2012:22279524}" "" "CRADD c.382G>C, p.Gly128Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "likely pathogenic" "" "0000847519" "3" "70" "12" "94243829" "94243829" "subst" "8.12222E-6" "00000" "CRADD_000010" "g.94243829G>C" "population-specific allele frequency: 1.72% (7/406)" "{PMID:Puffenberger 2012:22279524}" "" "CRADD c.382G>C, p.Gly128Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "likely pathogenic" "" "0000847520" "3" "70" "12" "94243829" "94243829" "subst" "8.12222E-6" "00000" "CRADD_000010" "g.94243829G>C" "population-specific allele frequency: 1.72% (7/406)" "{PMID:Puffenberger 2012:22279524}" "" "CRADD c.382G>C, p.Gly128Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "likely pathogenic" "" "0000847521" "3" "70" "12" "94243829" "94243829" "subst" "8.12222E-6" "00000" "CRADD_000010" "g.94243829G>C" "population-specific allele frequency: 1.72% (7/406)" "{PMID:Puffenberger 2012:22279524}" "" "CRADD c.382G>C, p.Gly128Arg" "homozygous" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "likely pathogenic" "" "0000920644" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "00006" "CRADD_000005" "g.94243956G>A" "" "{PMID:Jacquemin 2023:36859317}" "" "" "ACMG PS4, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "likely pathogenic (recessive)" "ACMG" "0000920645" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "00006" "CRADD_000005" "g.94243956G>A" "" "{PMID:Jacquemin 2023:36859317}" "" "" "ACMG PS4, PM2, PP3" "Germline" "yes" "" "0" "" "" "g.93850180G>A" "" "likely pathogenic (recessive)" "ACMG" "0000946872" "3" "90" "12" "94243956" "94243956" "subst" "0.000615382" "00006" "CRADD_000005" "g.94243956G>A" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "" "" "0" "" "" "g.93850180G>A" "" "pathogenic (recessive)" "" "0000946873" "1" "90" "12" "94243938" "94243938" "subst" "1.21991E-5" "00006" "CRADD_000012" "g.94243938T>G" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "" "" "0" "" "" "g.93850162T>G" "" "pathogenic (recessive)" "" "0000946874" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946875" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946876" "3" "90" "12" "94243955" "94243955" "subst" "1.22197E-5" "00006" "CRADD_000013" "g.94243955C>T" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850179C>T" "" "pathogenic (recessive)" "" "0000946877" "3" "90" "12" "94243955" "94243955" "subst" "1.22197E-5" "00006" "CRADD_000013" "g.94243955C>T" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850179C>T" "" "pathogenic (recessive)" "" "0000946878" "2" "90" "12" "92837355" "95909241" "del" "0" "00006" "CRADD_000011" "g.92837355_95909241del" "" "{PMID:Sajan 2013:24098143}, {PMID:Di Donato 2016:27773430}" "" "hg38 chr12:92,443,579–95,515,465" "3.07 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "arr[hg19]12q22(92,837,355–95,909,241x1)" "g.92443579_95515465del" "" "pathogenic (recessive)" "" "0000946879" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946880" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946881" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946882" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946883" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946884" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000946885" "3" "90" "12" "94243829" "94243829" "subst" "8.12222E-6" "00006" "CRADD_000010" "g.94243829G>C" "" "{PMID:Di Donato 2016:27773430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93850053G>C" "" "pathogenic (recessive)" "" "0000980508" "0" "50" "12" "94072578" "94072578" "subst" "2.8546E-5" "01804" "CRADD_000014" "g.94072578C>T" "" "" "" "CRADD(NM_003805.5):c.28C>T (p.(Arg10Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039524" "0" "30" "12" "94131966" "94131966" "subst" "0" "01804" "CRADD_000015" "g.94131966T>G" "" "" "" "CRADD(NM_001330126.1):c.299-10T>G" "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 CRADD ## Count = 54 "{{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}}" "0000267123" "00005644" "30" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Leu51Ile)" "" "0000274383" "00005644" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Glu199=)" "" "0000323030" "00005644" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Thr143Met)" "" "0000438577" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438580" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438583" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438585" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438588" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438589" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438590" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438591" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438592" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438593" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438595" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438597" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438598" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438599" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438600" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438601" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438603" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438605" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438607" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438608" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438609" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000438610" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000614434" "00005644" "30" "45" "0" "45" "0" "c.45G>C" "r.(?)" "p.(Glu15Asp)" "" "0000622996" "00005644" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000630959" "00005644" "90" "285" "0" "285" "0" "c.285dup" "r.(?)" "p.(Asp96Argfs*6)" "" "0000630960" "00005644" "90" "285" "0" "285" "0" "c.285dup" "r.(?)" "p.(Asp96Argfs*6)" "" "0000787150" "00005644" "50" "285" "0" "285" "0" "c.285dup" "r.(?)" "p.(Asp96ArgfsTer6)" "2" "0000805982" "00005644" "30" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Leu51Ile)" "" "0000847517" "00005644" "70" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000847518" "00005644" "70" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000847519" "00005644" "70" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000847520" "00005644" "70" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000847521" "00005644" "70" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000920644" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000920645" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000946872" "00005644" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Arg170His)" "" "0000946873" "00005644" "90" "491" "0" "491" "0" "c.491T>G" "r.(?)" "p.(Phe164Cys)" "" "0000946874" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946875" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946876" "00005644" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Cys)" "" "0000946877" "00005644" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Cys)" "" "0000946878" "00005644" "90" "0" "0" "0" "0" "c.-104_*485{0}" "r.0" "p.0" "_1_3_" "0000946879" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946880" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946881" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946882" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946883" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946884" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000946885" "00005644" "90" "382" "0" "382" "0" "c.382G>C" "r.(?)" "p.(Gly128Arg)" "" "0000980508" "00005644" "50" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Arg10Cys)" "" "0001039524" "00005644" "30" "298" "59118" "298" "59118" "c.298+59118T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000208653" "0000438577" "0000208656" "0000438580" "0000208661" "0000438583" "0000208663" "0000438585" "0000208664" "0000438588" "0000208665" "0000438589" "0000208666" "0000438590" "0000208667" "0000438591" "0000208668" "0000438592" "0000208670" "0000438593" "0000208672" "0000438595" "0000208673" "0000438597" "0000208674" "0000438598" "0000208675" "0000438599" "0000208676" "0000438600" "0000208677" "0000438601" "0000208679" "0000438603" "0000208680" "0000438605" "0000208681" "0000438607" "0000208682" "0000438608" "0000208683" "0000438609" "0000208684" "0000438610" "0000276820" "0000630959" "0000276821" "0000630960" "0000375799" "0000787150" "0000410241" "0000847517" "0000410242" "0000847518" "0000410243" "0000847519" "0000410244" "0000847520" "0000410245" "0000847521" "0000434773" "0000920644" "0000434774" "0000920645" "0000444936" "0000946872" "0000444937" "0000946873" "0000444937" "0000946878" "0000444938" "0000946874" "0000444939" "0000946875" "0000444940" "0000946876" "0000444941" "0000946877" "0000444942" "0000946879" "0000444943" "0000946880" "0000444944" "0000946881" "0000444945" "0000946882" "0000444946" "0000946883" "0000444947" "0000946884" "0000444948" "0000946885"