### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1E) # 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}}" "CACNA1E" "calcium channel, voltage-dependent, R type, alpha 1E subunit" "1" "q25.3" "unknown" "NG_050616.1" "UD_134712010986" "" "https://www.LOVD.nl/CACNA1E" "" "1" "1392" "777" "601013" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CACNA1E_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-10-28 13:06:29" "00000" "2025-05-05 21:14:00" ## 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}}" "00004241" "CACNA1E" "transcript variant 3" "002" "NM_000721.3" "" "NP_000712.2" "" "" "" "-195" "14763" "6813" "181452686" "181775920" "" "0000-00-00 00:00:00" "" "" "00025772" "CACNA1E" "transcript variant 1" "002" "NM_001205293.1" "" "NP_001192222.1" "" "" "" "-195" "14892" "6942" "181452686" "181775920" "00006" "2022-12-18 12:19:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06046" "EIEE69" "Epileptic encephalopathy, early infantile, 69" "AD" "618285" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CACNA1E" "05162" "CACNA1E" "06046" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00184047" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind01" "00184048" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind02" "00184049" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "25y" "0" "" "" "" "30343943_Ind03" "00184050" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind04" "00184051" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind05" "00184052" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "2y" "0" "" "" "" "30343943_Ind06" "00184053" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind07" "00184054" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind08" "00184055" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind09" "00184056" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind10" "00184057" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind11" "00184058" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind12" "00184059" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind13" "00184060" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "4y" "0" "" "" "" "30343943_Ind14" "00184061" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind15" "00184062" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind16" "00184063" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind17" "00184064" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind18" "00184065" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind19" "00184066" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind20" "00184067" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "3y" "0" "" "" "" "30343943_Ind21" "00184068" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind22" "00184069" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "1y" "0" "" "" "" "30343943_Ind23" "00184070" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind24" "00184071" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind25" "00184072" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "10m" "0" "" "" "" "30343943_Ind26" "00184073" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind27" "00184074" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943_Ind28" "00184075" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943_Ind29" "00184076" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "2y" "0" "" "" "" "30343943_Ind30" "00184077" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "F" "" "" "" "0" "" "" "" "30343943-Ind31" "00184078" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "unaffected heterozygous carrier father" "F" "" "" "" "0" "" "" "" "30343943-Ind32" "00184079" "" "" "" "1" "" "00006" "{PMID:Helbig 2018:30343943}" "" "M" "" "" "" "0" "" "" "" "30343943-Ind33" "00269521" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "M" "" "Italy" "" "0" "" "" "" "" "00303065" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat107" "00427983" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A053" "00428015" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A155" "00431886" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y05m" "" "" "" "Europe" "SIDS220" "00438320" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat38" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00184047" "00198" "00184048" "00198" "00184049" "00198" "00184050" "00198" "00184051" "00198" "00184052" "00198" "00184053" "00198" "00184054" "00198" "00184055" "00198" "00184056" "00198" "00184057" "00198" "00184058" "00198" "00184059" "00198" "00184060" "00198" "00184061" "00198" "00184062" "00198" "00184063" "00198" "00184064" "00198" "00184065" "00198" "00184066" "00198" "00184067" "00198" "00184068" "00198" "00184069" "00198" "00184070" "00198" "00184071" "00198" "00184072" "00198" "00184073" "00198" "00184074" "00198" "00184075" "00198" "00184076" "00198" "00184077" "00198" "00184078" "05162" "00184079" "05162" "00269521" "00841" "00303065" "05521" "00427983" "00198" "00428015" "00198" "00431886" "02087" "00438320" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00841, 02087, 04270, 05162, 05521, 06046 ## Count = 39 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000144378" "00198" "00184047" "00006" "Isolated (sporadic)" "3y" "see paper; …; seizures; EEG multifocal discharges; MRI white matter volume loss; spastic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144379" "00198" "00184048" "00006" "Isolated (sporadic)" "2y" "see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe truncal hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144380" "00198" "00184049" "00006" "Isolated (sporadic)" "25y" "see paper; …; seizures; EEG multifocal discharges; MRI normal; spastic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); +; macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144381" "00198" "00184050" "00006" "Isolated (sporadic)" "5y6m" "see paper; …; seizures; EEG multifocal discharges; MRI normal; spastic dystonic quadriplegia, hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144382" "00198" "00184051" "00006" "Isolated (sporadic)" "16y" "see paper; …; seizures; EEG slow spike-wave; MRI normal; hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144383" "00198" "00184052" "00006" "Isolated (sporadic)" "2y" "see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144384" "00198" "00184053" "00006" "Isolated (sporadic)" "8y" "see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; spastic dystonic quadriplegia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144385" "00198" "00184054" "00006" "Isolated (sporadic)" "6y" "see paper; …; seizures; EEG multifocal discharges; CSWS; MRI white matter volume loss; hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144386" "00198" "00184055" "00006" "Isolated (sporadic)" "12y" "see paper; …; seizures; EEG temporal spikes; MRI hyperintense T2 signal in parieto-occipital region; severe axial hypotonia, neck dystonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), chorea (HP:0002072); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144387" "00198" "00184056" "00006" "Isolated (sporadic)" "15y" "see paper; …; seizures; EEG hyps, polyspike-wave; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), dyskinesia, (HP:0100660), myoclonus (HP:0001336); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144388" "00198" "00184057" "00006" "Isolated (sporadic)" "1y" "see paper; …; no seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344); dystonia (HP:0001332); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144389" "00198" "00184058" "00006" "Isolated (sporadic)" "1y6m" "see paper; …; seizures; EEG multifocal discharges; MRI normal; severe hypotonia, hyporeflexia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144390" "00198" "00184059" "00006" "Isolated (sporadic)" "2y" "see paper; …; no seizures; EEG multifocal discharges; MRI normal; severe diffuse hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), hyperkinetic; no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144391" "00198" "00184060" "00006" "Isolated (sporadic)" "4y" "see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; profound hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144392" "00198" "00184061" "00006" "Isolated (sporadic)" "8y" "see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe diffuse hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144393" "00198" "00184062" "00006" "Isolated (sporadic)" "9y" "see paper; …; seizures; EEG multifocal discharges; MRI normal; hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dystonia (HP:0001332), chorea (HP:0002072); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144394" "00198" "00184063" "00006" "Isolated (sporadic)" "18y" "see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144395" "00198" "00184064" "00006" "Isolated (sporadic)" "10y" "see paper; …; seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); chorea (HP:0002072); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144396" "00198" "00184065" "00006" "Isolated (sporadic)" "1y6m" "see paper; …; seizures; EEG multifocal discharges, hyps; MRI Normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344); no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144397" "00198" "00184066" "00006" "Isolated (sporadic)" "1y" "see paper; …; seizures; EEG hyps; MRI normal; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144398" "00198" "00184067" "00006" "Isolated (sporadic)" "3y" "see paper; …; seizures; EEG hyps, multifocal discharges; MRI normal; severe hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144399" "00198" "00184068" "00006" "Isolated (sporadic)" "10y" "see paper; …; seizures; EEG multifocal discharges; MRI cortical atrophy; profound hypotonia, spastic quadriplegia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); dyskinesia (HP:0100660); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144400" "00198" "00184069" "00006" "Isolated (sporadic)" "1y" "see paper; …; seizures; EEG hyps; MRI T2 hyperintensity in basal ganglia; diffuse hypotonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144401" "00198" "00184070" "00006" "Isolated (sporadic)" "2y" "see paper; …; seizures; EEG multifocal discharges; MRI normal; severe axial hypotonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144402" "00198" "00184071" "00006" "Isolated (sporadic)" "7y" "see paper; …; seizures; EEG unavailable; MRI unavailable; hyptonia, spastic quadriplegia; developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144403" "00198" "00184072" "00006" "Isolated (sporadic)" "10m" "see paper; …; seizures; EEG burst-suppression; MRI normal; axial hypotonia; profound developmental delay (HP:0012736); no movement disorder (HP:0100022); congenital contractures (HP:0002803); macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144404" "00198" "00184073" "00006" "Isolated (sporadic)" "6y" "see paper; …; seizures; EEG multifocal discharges; MRI normal; mild hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), walks with assistance; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144405" "00198" "00184074" "00006" "Isolated (sporadic)" "4y" "see paper; …; no seizures; EEG not done; MRI normal; hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), ambulant; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144406" "00198" "00184075" "00006" "Isolated (sporadic)" "4y" "see paper; …; no seizures; EEG not done; MRI delayed myelination; profound appendicular hypotonia; severe developmental delay (HP:0011344), poor speech (HP:0002465), ambulant; no movement disorder (HP:0100022); no congenital contractures (-HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144407" "00198" "00184076" "00006" "Isolated (sporadic)" "2y" "see paper; …; seizures; EEG multifocal discharges; MRI thin corpus callosum; severe axial hypotonia, appendicular hypertonia; profound developmental delay (HP:0012736), no speech (HP:0001344), not ambulant (HP:0002540); no movement disorder (HP:0100022); congenital contractures (HP:0002803); no macrocephaly (-HP:0000256)" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144408" "00198" "00184077" "00006" "Unknown" "" "see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144409" "05162" "00184078" "00006" "Unknown" "" "see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000144410" "05162" "00184079" "00006" "Unknown" "" "see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000207352" "00841" "00269521" "03512" "Unknown" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230148" "05521" "00303065" "00006" "Familial, autosomal recessive" "" "Epileptic Encephalopathy, Infantile Spasms; age onset infantile" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000318929" "00198" "00427983" "00006" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "DEE69" "" "" "0000318961" "00198" "00428015" "00006" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "DEE69" "" "" "0000322455" "02087" "00431886" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "0000328224" "04270" "00438320" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany; HP:0002373 febrile seizures; HP:0012378 fatigue; HP:0002500 abnormality of the cerebral white matter; HP:0001028 hemangioma" "2y" "" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000185014" "00184047" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185015" "00184048" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185016" "00184049" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185017" "00184050" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185018" "00184051" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185019" "00184052" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185020" "00184053" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185021" "00184054" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185022" "00184055" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185023" "00184056" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185024" "00184057" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185025" "00184058" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185026" "00184059" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185027" "00184060" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185028" "00184061" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185029" "00184062" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185030" "00184063" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185031" "00184064" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185032" "00184065" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185033" "00184066" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185034" "00184067" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185035" "00184068" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185036" "00184069" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185037" "00184070" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185038" "00184071" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185039" "00184072" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185040" "00184073" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185041" "00184074" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185042" "00184075" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185043" "00184076" "1" "00006" "00006" "2018-10-28 13:05:22" "" "" "SEQ-NG" "DNA" "" "" "0000185044" "00184077" "1" "00006" "00006" "2018-10-28 13:17:48" "" "" "SEQ-NG" "DNA" "" "" "0000185045" "00184078" "1" "00006" "00006" "2018-10-28 13:21:09" "" "" "SEQ-NG" "DNA" "" "" "0000185046" "00184079" "1" "00006" "00006" "2018-10-28 13:24:33" "" "" "SEQ-NG" "DNA" "" "" "0000270674" "00269521" "1" "03512" "03512" "2019-11-29 10:36:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000304190" "00303065" "1" "00006" "00006" "2020-06-05 14:49:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000429396" "00427983" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000429428" "00428015" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000433326" "00431886" "1" "01602" "01602" "2023-02-17 15:37:44" "" "" "SEQ-NG" "DNA" "" "" "0000439802" "00438320" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{geneid}}" "0000185014" "CACNA1E" "0000185015" "CACNA1E" "0000185016" "CACNA1E" "0000185017" "CACNA1E" "0000185018" "CACNA1E" "0000185019" "CACNA1E" "0000185020" "CACNA1E" "0000185021" "CACNA1E" "0000185022" "CACNA1E" "0000185023" "CACNA1E" "0000185024" "CACNA1E" "0000185025" "CACNA1E" "0000185026" "CACNA1E" "0000185027" "CACNA1E" "0000185028" "CACNA1E" "0000185029" "CACNA1E" "0000185030" "CACNA1E" "0000185031" "CACNA1E" "0000185032" "CACNA1E" "0000185033" "CACNA1E" "0000185034" "CACNA1E" "0000185035" "CACNA1E" "0000185036" "CACNA1E" "0000185037" "CACNA1E" "0000185038" "CACNA1E" "0000185039" "CACNA1E" "0000185040" "CACNA1E" "0000185041" "CACNA1E" "0000185042" "CACNA1E" "0000185043" "CACNA1E" "0000185044" "CACNA1E" "0000185045" "CACNA1E" "0000185046" "CACNA1E" "0000304190" "CACNA1E" ## 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 = 131 "{{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}}" "0000269575" "0" "10" "1" "181752931" "181752935" "del" "0" "02326" "CACNA1E_000006" "g.181752931_181752935del" "" "" "" "CACNA1E(NM_001205293.3):c.5470+11_5470+15delCTTAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181783795_181783799del" "" "benign" "" "0000272482" "0" "50" "1" "181701707" "181701707" "subst" "0" "01943" "CACNA1E_000001" "g.181701707C>T" "" "" "" "CACNA1E(NM_001205293.2):c.2485C>T (p.R829*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181732571C>T" "" "VUS" "" "0000272483" "0" "10" "1" "181701799" "181701799" "subst" "0.126972" "01943" "CACNA1E_000002" "g.181701799T>A" "" "" "" "CACNA1E(NM_001205293.2):c.2577T>A (p.D859E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181732663T>A" "" "benign" "" "0000272484" "0" "30" "1" "181727947" "181727947" "subst" "0.0052984" "01943" "CACNA1E_000004" "g.181727947C>T" "" "" "" "CACNA1E(NM_001205293.2):c.4548C>T (p.A1516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181758811C>T" "" "likely benign" "" "0000272485" "0" "30" "1" "181732586" "181732586" "subst" "0.00265999" "01943" "CACNA1E_000005" "g.181732586C>T" "" "" "" "CACNA1E(NM_001205293.2):c.4734C>T (p.F1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181763450C>T" "" "likely benign" "" "0000272486" "0" "50" "1" "181767812" "181767812" "subst" "1.64992E-5" "01943" "CACNA1E_000008" "g.181767812C>T" "" "" "" "CACNA1E(NM_001205293.2):c.6784C>T (p.R2262C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181798676C>T" "" "VUS" "" "0000321160" "0" "50" "1" "181706740" "181706740" "subst" "4.06167E-6" "01804" "CACNA1E_000003" "g.181706740A>G" "" "" "" "CACNA1E(NM_000721.3):c.3502A>G (p.(Ile1168Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181737604A>G" "" "VUS" "" "0000321161" "0" "50" "1" "181765954" "181765954" "subst" "0.000567013" "01804" "CACNA1E_000007" "g.181765954G>A" "" "" "" "CACNA1E(NM_000721.3):c.6230G>A (p.(Arg2077Lys)), CACNA1E(NM_000721.4):c.6230G>A (p.R2077K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181796818G>A" "" "VUS" "" "0000346019" "0" "50" "1" "181620576" "181620576" "subst" "0" "02327" "CACNA1E_000009" "g.181620576G>A" "" "" "" "CACNA1E(NM_000721.3):c.1054G>A (p.(Gly352Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181651440G>A" "" "VUS" "" "0000348752" "0" "50" "1" "181732660" "181732660" "subst" "0" "02327" "CACNA1E_000010" "g.181732660C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.181763524C>T" "" "VUS" "" "0000410131" "0" "90" "1" "181548274" "181548274" "subst" "0" "00006" "CACNA1E_000011" "g.181548274T>C" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181579138T>C" "" "pathogenic (dominant)" "" "0000410132" "0" "90" "1" "181620564" "181620564" "subst" "0" "00006" "CACNA1E_000012" "g.181620564G>C" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651428G>C" "" "pathogenic (dominant)" "" "0000410133" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410134" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410135" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410136" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410137" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410138" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410139" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410140" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410141" "0" "90" "1" "181620576" "181620576" "subst" "0" "00006" "CACNA1E_000009" "g.181620576G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181651440G>A" "" "pathogenic (dominant)" "" "0000410142" "0" "90" "1" "181689397" "181689397" "subst" "0" "00006" "CACNA1E_000013" "g.181689397A>C" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181720261A>C" "" "pathogenic (dominant)" "" "0000410143" "0" "90" "1" "181691006" "181691006" "subst" "0" "00006" "CACNA1E_000014" "g.181691006G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181721870G>A" "" "pathogenic (dominant)" "" "0000410144" "0" "90" "1" "181693624" "181693624" "subst" "0" "00006" "CACNA1E_000015" "g.181693624T>C" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724488T>C" "" "pathogenic (dominant)" "" "0000410145" "0" "90" "1" "181693629" "181693629" "subst" "0" "00006" "CACNA1E_000016" "g.181693629G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724493G>A" "" "pathogenic (dominant)" "" "0000410146" "0" "90" "1" "181693632" "181693632" "subst" "0" "00006" "CACNA1E_000017" "g.181693632A>G" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724496A>G" "" "pathogenic (dominant)" "" "0000410147" "0" "90" "1" "181693632" "181693632" "subst" "0" "00006" "CACNA1E_000017" "g.181693632A>G" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724496A>G" "" "pathogenic (dominant)" "" "0000410148" "0" "90" "1" "181693632" "181693632" "subst" "0" "00006" "CACNA1E_000017" "g.181693632A>G" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724496A>G" "" "pathogenic (dominant)" "" "0000410149" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410150" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410151" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410152" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410153" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410154" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000017" "g.181693635G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>A" "" "pathogenic (dominant)" "" "0000410155" "0" "90" "1" "181693635" "181693635" "subst" "0" "00006" "CACNA1E_000018" "g.181693635G>C" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181724499G>C" "" "pathogenic (dominant)" "" "0000410156" "0" "90" "1" "181726197" "181726197" "subst" "0" "00006" "CACNA1E_000019" "g.181726197A>T" "" "{PMID:Helbig 2018:30343943}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.181757061A>T" "" "pathogenic (dominant)" "" "0000410157" "0" "90" "1" "181726207" "181726207" "subst" "0" "00006" "CACNA1E_000020" "g.181726207C>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181757071C>A" "" "pathogenic (dominant)" "" "0000410158" "0" "90" "1" "181726207" "181726207" "subst" "0" "00006" "CACNA1E_000020" "g.181726207C>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181757071C>A" "" "pathogenic (dominant)" "" "0000410159" "0" "90" "1" "181726221" "181726221" "subst" "0" "00006" "CACNA1E_000021" "g.181726221G>A" "" "{PMID:Helbig 2018:30343943}" "" "" "" "De novo" "" "" "0" "" "" "g.181757085G>A" "" "pathogenic (dominant)" "" "0000410160" "0" "90" "1" "181745256" "181745256" "subst" "0" "00006" "CACNA1E_000022" "g.181745256C>G" "" "{PMID:Helbig 2018:30343943}" "" "" "no paternal DNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.181776120C>G" "" "pathogenic (dominant)" "" "0000410161" "0" "90" "1" "181701707" "181701707" "subst" "0" "00006" "CACNA1E_000001" "g.181701707C>T" "" "{PMID:Helbig 2018:30343943}" "" "" "6/22 variant reads" "Somatic" "" "" "0" "" "" "g.181732571C>T" "" "likely pathogenic" "" "0000410162" "11" "90" "1" "181726098" "181726098" "subst" "0" "00006" "CACNA1E_000023" "g.181726098C>T" "" "{PMID:Helbig 2018:30343943}" "" "" "inherited from unaffected father" "Germline" "" "" "0" "" "" "g.181756962C>T" "" "VUS" "" "0000410163" "0" "90" "1" "181726196" "181726204" "del" "0" "00006" "CACNA1E_000024" "g.181726196_181726204delinsG" "" "{PMID:Helbig 2018:30343943}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.181757060_181757068delinsG" "" "likely pathogenic" "" "0000504378" "0" "90" "1" "181620576" "181620576" "subst" "0" "01804" "CACNA1E_000009" "g.181620576G>A" "" "" "" "CACNA1E(NM_000721.3):c.1054G>A (p.(Gly352Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181651440G>A" "" "pathogenic" "" "0000504382" "0" "50" "1" "181726124" "181726124" "subst" "0" "02327" "CACNA1E_000029" "g.181726124G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181756988G>A" "" "VUS" "" "0000504383" "0" "10" "1" "181731703" "181731703" "subst" "0.00169845" "01943" "CACNA1E_000030" "g.181731703T>C" "" "" "" "CACNA1E(NM_001205293.2):c.4606-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181762567T>C" "" "benign" "" "0000504384" "0" "50" "1" "181765936" "181765936" "subst" "4.17348E-6" "01804" "CACNA1E_000031" "g.181765936C>T" "" "" "" "CACNA1E(NM_001205293.1):c.6341C>T (p.(Pro2114Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181796800C>T" "" "VUS" "" "0000504385" "0" "50" "1" "181765942" "181765942" "subst" "0.000794598" "01943" "CACNA1E_000032" "g.181765942G>A" "" "" "" "CACNA1E(NM_001205293.2):c.6347G>A (p.R2116H), CACNA1E(NM_001205293.3):c.6347G>A (p.(Arg2116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181796806G>A" "" "VUS" "" "0000504386" "0" "50" "1" "181767524" "181767524" "subst" "0" "02329" "CACNA1E_000033" "g.181767524C>A" "" "" "" "CACNA1E(NM_001205293.2):c.6496C>A (p.P2166T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181798388C>A" "" "VUS" "" "0000604457" "0" "70" "1" "181726221" "181726221" "subst" "0" "03512" "CACNA1E_000021" "g.181726221G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "De novo" "" "" "0" "" "" "g.181757085G>A" "" "pathogenic" "" "0000620448" "0" "70" "1" "181693636" "181693636" "subst" "0" "02329" "CACNA1E_000034" "g.181693636C>T" "" "" "" "CACNA1E(NM_001205293.3):c.2105C>T (p.A702V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181724500C>T" "" "likely pathogenic" "" "0000620449" "0" "30" "1" "181702831" "181702831" "subst" "0.00181504" "01943" "CACNA1E_000028" "g.181702831C>T" "" "" "" "CACNA1E(NM_001205293.2):c.3207C>T (p.S1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181733695C>T" "" "likely benign" "" "0000653818" "0" "30" "1" "181620575" "181620575" "subst" "0.00121225" "01943" "CACNA1E_000025" "g.181620575C>A" "" "" "" "CACNA1E(NM_001205293.2):c.1053C>A (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181651439C>A" "" "likely benign" "" "0000653819" "0" "30" "1" "181701978" "181701978" "subst" "0.00117139" "01943" "CACNA1E_000027" "g.181701978G>A" "" "" "" "CACNA1E(NM_001205293.2):c.2756G>A (p.R919Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.181732842G>A" "" "likely benign" "" "0000667603" "1" "70" "1" "181693624" "181693624" "subst" "0" "00006" "CACNA1E_000015" "g.181693624T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.181724488T>C" "" "likely pathogenic (recessive)" "ACMG" "0000667622" "2" "70" "1" "181701857" "181701857" "subst" "3.18191E-5" "00006" "CACNA1E_000035" "g.181701857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.181732721C>T" "" "likely pathogenic (recessive)" "ACMG" "0000675550" "0" "50" "1" "181705468" "181705468" "subst" "0" "02325" "CACNA1E_000036" "g.181705468A>T" "" "" "" "CACNA1E(NM_001205293.3):c.3320A>T (p.D1107V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675551" "0" "50" "1" "181767498" "181767498" "subst" "0.000461635" "02325" "CACNA1E_000037" "g.181767498G>A" "" "" "" "CACNA1E(NM_000721.4):c.6341G>A (p.R2114Q), CACNA1E(NM_001205293.2):c.6470G>A (p.R2157Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675552" "0" "50" "1" "181767600" "181767602" "del" "0" "01943" "CACNA1E_000038" "g.181767600_181767602del" "" "" "" "CACNA1E(NM_001205293.2):c.6572_6574delAGG (p.E2191del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675553" "0" "50" "1" "181767794" "181767794" "subst" "2.88372E-5" "01943" "CACNA1E_000039" "g.181767794G>A" "" "" "" "CACNA1E(NM_001205293.2):c.6766G>A (p.V2256M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717014" "0" "30" "1" "181620545" "181620545" "subst" "0.00242547" "01943" "CACNA1E_000040" "g.181620545T>C" "" "" "" "CACNA1E(NM_001205293.2):c.1023T>C (p.F341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717015" "0" "30" "1" "181684517" "181684517" "subst" "0.000655011" "01943" "CACNA1E_000041" "g.181684517C>A" "" "" "" "CACNA1E(NM_001205293.2):c.1215C>A (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717016" "0" "30" "1" "181725191" "181725191" "subst" "0.00276784" "01943" "CACNA1E_000042" "g.181725191G>T" "" "" "" "CACNA1E(NM_001205293.2):c.4089G>T (p.L1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717017" "0" "30" "1" "181745323" "181745323" "subst" "4.06256E-6" "01943" "CACNA1E_000043" "g.181745323C>T" "" "" "" "CACNA1E(NM_001205293.2):c.5226C>T (p.D1742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717018" "0" "50" "1" "181752921" "181752921" "subst" "9.84194E-6" "02325" "CACNA1E_000044" "g.181752921G>T" "" "" "" "CACNA1E(NM_000721.4):c.5470+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717019" "0" "30" "1" "181759660" "181759660" "subst" "8.12301E-6" "01943" "CACNA1E_000045" "g.181759660G>A" "" "" "" "CACNA1E(NM_001205293.2):c.5866G>A (p.D1956N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798935" "0" "30" "1" "181480670" "181480673" "del" "0" "02326" "CACNA1E_000046" "g.181480670_181480673del" "" "" "" "CACNA1E(NM_000721.4):c.512+24_512+27delCTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798936" "0" "30" "1" "181620575" "181620575" "subst" "0.00111055" "01943" "CACNA1E_000047" "g.181620575C>T" "" "" "" "CACNA1E(NM_001205293.2):c.1053C>T (p.S351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798937" "0" "50" "1" "181685205" "181685205" "subst" "0" "01943" "CACNA1E_000048" "g.181685205C>T" "" "" "" "CACNA1E(NM_001205293.2):c.1255C>T (p.R419W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798938" "0" "30" "1" "181685258" "181685258" "subst" "0.000862469" "02326" "CACNA1E_000049" "g.181685258C>G" "" "" "" "CACNA1E(NM_000721.4):c.1308C>G (p.S436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798939" "0" "70" "1" "181691006" "181691006" "subst" "0" "02329" "CACNA1E_000050" "g.181691006G>T" "" "" "" "CACNA1E(NM_000721.4):c.2069G>T (p.G690V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798940" "0" "30" "1" "181701504" "181701504" "subst" "0.00097212" "02326" "CACNA1E_000051" "g.181701504C>T" "" "" "" "CACNA1E(NM_000721.4):c.2298-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798941" "0" "50" "1" "181701758" "181701758" "subst" "1.98016E-5" "02325" "CACNA1E_000052" "g.181701758G>A" "" "" "" "CACNA1E(NM_000721.4):c.2536G>A (p.E846K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798942" "0" "30" "1" "181701834" "181701834" "subst" "0" "01943" "CACNA1E_000053" "g.181701834G>T" "" "" "" "CACNA1E(NM_001205293.2):c.2612G>T (p.R871M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798943" "0" "50" "1" "181721293" "181721293" "subst" "4.06128E-6" "01943" "CACNA1E_000054" "g.181721293G>A" "" "" "" "CACNA1E(NM_000721.3):c.3746G>A (p.R1249Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798944" "0" "30" "1" "181724381" "181724381" "subst" "0.000676232" "01943" "CACNA1E_000055" "g.181724381C>T" "" "" "" "CACNA1E(NM_001205293.2):c.3837C>T (p.F1279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848409" "0" "70" "1" "181701830" "181701830" "subst" "0" "02327" "CACNA1E_000058" "g.181701830C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000848410" "0" "50" "1" "181750616" "181750616" "subst" "0" "02327" "CACNA1E_000060" "g.181750616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848411" "0" "30" "1" "181764092" "181764092" "subst" "4.87369E-5" "01943" "CACNA1E_000061" "g.181764092G>A" "" "" "" "CACNA1E(NM_001205293.2):c.6120G>A (p.E2040=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857162" "0" "30" "1" "181689970" "181689970" "subst" "0.000961743" "01943" "CACNA1E_000056" "g.181689970A>G" "" "" "" "CACNA1E(NM_001205293.2):c.1935A>G (p.A645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857163" "0" "30" "1" "181701767" "181701767" "subst" "0" "01943" "CACNA1E_000057" "g.181701767C>A" "" "" "" "CACNA1E(NM_001205293.2):c.2545C>A (p.R849S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857164" "0" "30" "1" "181740452" "181740452" "subst" "0.0009257" "01943" "CACNA1E_000059" "g.181740452C>T" "" "" "" "CACNA1E(NM_001205293.2):c.4905C>T (p.D1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857165" "0" "50" "1" "181767498" "181767498" "subst" "0.000461635" "01943" "CACNA1E_000037" "g.181767498G>A" "" "" "" "CACNA1E(NM_000721.4):c.6341G>A (p.R2114Q), CACNA1E(NM_001205293.2):c.6470G>A (p.R2157Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882963" "0" "30" "1" "181701777" "181701777" "subst" "6.39233E-5" "02325" "CACNA1E_000062" "g.181701777G>A" "" "" "" "CACNA1E(NM_000721.4):c.2555G>A (p.R852H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882964" "0" "50" "1" "181706720" "181706720" "subst" "0" "02325" "CACNA1E_000063" "g.181706720T>C" "" "" "" "CACNA1E(NM_000721.4):c.3482T>C (p.L1161P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882965" "0" "90" "1" "181726207" "181726207" "subst" "0" "02325" "CACNA1E_000020" "g.181726207C>A" "" "" "" "CACNA1E(NM_000721.4):c.4274C>A (p.T1425N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908869" "0" "50" "1" "181547008" "181547008" "subst" "0" "00006" "CACNA1E_000064" "g.181547008G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "g.181577872G>A" "" "VUS" "" "0000908901" "0" "50" "1" "181731712" "181731712" "subst" "0" "00006" "CACNA1E_000065" "g.181731712C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline" "" "" "0" "" "" "g.181762576C>T" "" "VUS" "" "0000918973" "0" "70" "1" "181701533" "181701533" "subst" "0" "01602" "CACNA1E_000066" "g.181701533C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000928074" "0" "30" "1" "181702604" "181702604" "subst" "5.46291E-5" "02325" "CACNA1E_000067" "g.181702604G>A" "" "" "" "CACNA1E(NM_000721.4):c.2980G>A (p.G994R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000935931" "0" "70" "1" "181745294" "181745294" "subst" "0" "00006" "CACNA1E_000068" "g.181745294T>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.181776158T>G" "" "likely pathogenic (dominant)" "ACMG" "0000947050" "0" "50" "1" "181680179" "181680179" "subst" "0" "02325" "CACNA1E_000069" "g.181680179G>T" "" "" "" "CACNA1E(NM_000721.4):c.1145G>T (p.G382V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947051" "0" "70" "1" "181687199" "181687199" "subst" "0" "02327" "CACNA1E_000070" "g.181687199G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947052" "0" "50" "1" "181706750" "181706750" "subst" "0" "02326" "CACNA1E_000071" "g.181706750C>T" "" "" "" "CACNA1E(NM_000721.4):c.3512C>T (p.A1171V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960665" "0" "30" "1" "181702679" "181702679" "subst" "6.13527E-5" "02326" "CACNA1E_000072" "g.181702679G>A" "" "" "" "CACNA1E(NM_000721.4):c.3055G>A (p.V1019M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960667" "0" "50" "1" "181725132" "181725132" "subst" "0" "02327" "CACNA1E_000073" "g.181725132A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973486" "0" "30" "1" "181608077" "181608077" "subst" "0" "01804" "CACNA1E_000077" "g.181608077A>G" "" "" "" "CACNA1E(NM_001205293.3):c.952-12397A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973487" "0" "50" "1" "181701705" "181701705" "subst" "1.57686E-5" "01804" "CACNA1E_000078" "g.181701705G>A" "" "" "" "CACNA1E(NM_001205293.1):c.2483G>A (p.(Arg828Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973488" "0" "50" "1" "181721374" "181721374" "subst" "0" "01804" "CACNA1E_000079" "g.181721374A>T" "" "" "" "CACNA1E(NM_001205293.1):c.3827A>T (p.(Lys1276Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973489" "0" "30" "1" "181754880" "181754880" "subst" "0.000162965" "01804" "CACNA1E_000080" "g.181754880C>T" "" "" "" "CACNA1E(NM_001205293.3):c.5711C>T (p.(Pro1904Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973490" "0" "30" "1" "181760160" "181760160" "subst" "0" "01804" "CACNA1E_000081" "g.181760160G>A" "" "" "" "CACNA1E(NM_001205293.3):c.5898+468G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973491" "0" "50" "1" "181764161" "181764161" "subst" "0" "01804" "CACNA1E_000082" "g.181764161C>A" "" "" "" "CACNA1E(NM_001205293.3):c.6189C>A (p.(His2063Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973492" "0" "30" "1" "181767221" "181767221" "subst" "0" "01804" "CACNA1E_000083" "g.181767221A>C" "" "" "" "CACNA1E(NM_001205293.3):c.6400-207A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973493" "0" "50" "1" "181767468" "181767468" "subst" "1.23867E-5" "01804" "CACNA1E_000084" "g.181767468C>G" "" "" "" "CACNA1E(NM_001205293.3):c.6440C>G (p.(Ser2147Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990587" "0" "30" "1" "181453004" "181453004" "subst" "0" "01804" "CACNA1E_000085" "g.181453004A>C" "" "" "" "CACNA1E(NM_001205293.1):c.124A>C (p.(Thr42Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990588" "0" "70" "1" "181680206" "181680206" "subst" "0" "01804" "CACNA1E_000086" "g.181680206G>T" "" "" "" "CACNA1E(NM_001205293.1):c.1171+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990589" "0" "30" "1" "181701699" "181701699" "subst" "1.47647E-5" "01804" "CACNA1E_000087" "g.181701699T>G" "" "" "" "CACNA1E(NM_001205293.1):c.2477T>G (p.(Leu826Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990590" "0" "30" "1" "181701887" "181701887" "subst" "3.39895E-5" "01804" "CACNA1E_000088" "g.181701887C>G" "" "" "" "CACNA1E(NM_001205293.1):c.2665C>G (p.(His889Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990591" "0" "50" "1" "181701953" "181701953" "subst" "2.48227E-5" "01804" "CACNA1E_000089" "g.181701953C>T" "" "" "" "CACNA1E(NM_000721.4):c.2731C>T (p.R911W), CACNA1E(NM_001205293.1):c.2731C>T (p.(Arg911Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990592" "0" "50" "1" "181702808" "181702808" "subst" "0" "01804" "CACNA1E_000090" "g.181702808A>G" "" "" "" "CACNA1E(NM_001205293.1):c.3184A>G (p.(Lys1062Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990593" "0" "50" "1" "181705500" "181705502" "del" "0" "01804" "CACNA1E_000091" "g.181705500_181705502del" "" "" "" "CACNA1E(NM_001205293.1):c.3352_3354delAAG (p.(Lys1118del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990594" "0" "30" "1" "181731755" "181731755" "subst" "0" "01804" "CACNA1E_000092" "g.181731755A>G" "" "" "" "CACNA1E(NM_001205293.1):c.4651A>G (p.(Ile1551Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990595" "0" "50" "1" "181759589" "181759589" "subst" "4.06577E-5" "01804" "CACNA1E_000093" "g.181759589G>A" "" "" "" "CACNA1E(NM_001205293.1):c.5795G>A (p.(Arg1932Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990596" "0" "50" "1" "181764028" "181764028" "subst" "3.66178E-5" "01804" "CACNA1E_000094" "g.181764028G>A" "" "" "" "CACNA1E(NM_001205293.1):c.6056G>A (p.(Arg2019His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990597" "0" "50" "1" "181764067" "181764067" "subst" "8.12447E-6" "02325" "CACNA1E_000095" "g.181764067C>T" "" "" "" "CACNA1E(NM_000721.4):c.5966C>T (p.S1989L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990598" "0" "30" "1" "181764087" "181764087" "subst" "0" "01804" "CACNA1E_000096" "g.181764087A>G" "" "" "" "CACNA1E(NM_001205293.1):c.6115A>G (p.(Met2039Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990599" "0" "30" "1" "181767563" "181767563" "subst" "1.62563E-5" "01804" "CACNA1E_000097" "g.181767563G>A" "" "" "" "CACNA1E(NM_001205293.1):c.6535G>A (p.(Ala2179Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990600" "0" "30" "1" "181767884" "181767884" "subst" "2.11329E-5" "01804" "CACNA1E_000098" "g.181767884C>T" "" "" "" "CACNA1E(NM_001205293.1):c.6856C>T (p.(Arg2286Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013245" "0" "50" "1" "181685224" "181685224" "subst" "0" "02325" "CACNA1E_000099" "g.181685224G>C" "" "" "" "CACNA1E(NM_000721.4):c.1274G>C (p.R425P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013246" "0" "30" "1" "181701996" "181701996" "subst" "3.66282E-5" "02326" "CACNA1E_000100" "g.181701996G>A" "" "" "" "CACNA1E(NM_000721.4):c.2774G>A (p.R925H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013247" "0" "30" "1" "181765954" "181765954" "subst" "0.000567013" "02325" "CACNA1E_000007" "g.181765954G>A" "" "" "" "CACNA1E(NM_000721.3):c.6230G>A (p.(Arg2077Lys)), CACNA1E(NM_000721.4):c.6230G>A (p.R2077K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024072" "0" "50" "1" "181765928" "181765928" "subst" "0" "02327" "CACNA1E_000101" "g.181765928G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031515" "0" "50" "1" "181452652" "181452652" "subst" "0" "01804" "CACNA1E_000102" "g.181452652C>A" "" "" "" "CACNA1E(NM_001205293.3):c.-229C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031516" "0" "50" "1" "181452978" "181452978" "subst" "0" "01804" "CACNA1E_000103" "g.181452978C>T" "" "" "" "CACNA1E(NM_001205293.3):c.98C>T (p.(Ser33Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031517" "0" "30" "1" "181687234" "181687234" "subst" "0.000174848" "01804" "CACNA1E_000104" "g.181687234G>A" "" "" "" "CACNA1E(NM_001205293.3):c.1569G>A (p.(Met523Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031518" "0" "50" "1" "181701702" "181701702" "subst" "0" "01804" "CACNA1E_000105" "g.181701702A>G" "" "" "" "CACNA1E(NM_001205293.3):c.2480A>G (p.(Tyr827Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031519" "0" "30" "1" "181701953" "181701953" "subst" "2.48227E-5" "02325" "CACNA1E_000089" "g.181701953C>T" "" "" "" "CACNA1E(NM_000721.4):c.2731C>T (p.R911W), CACNA1E(NM_001205293.1):c.2731C>T (p.(Arg911Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031520" "0" "30" "1" "181706778" "181706778" "subst" "0.000150555" "02326" "CACNA1E_000106" "g.181706778G>A" "" "" "" "CACNA1E(NM_000721.4):c.3540G>A (p.S1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031521" "0" "50" "1" "181762863" "181762863" "subst" "2.12321E-5" "01804" "CACNA1E_000107" "g.181762863G>A" "" "" "" "CACNA1E(NM_001205293.3):c.5961G>A (p.(Ser1987=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031522" "0" "10" "1" "181765942" "181765942" "subst" "0.000794598" "01804" "CACNA1E_000032" "g.181765942G>A" "" "" "" "CACNA1E(NM_001205293.2):c.6347G>A (p.R2116H), CACNA1E(NM_001205293.3):c.6347G>A (p.(Arg2116His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031523" "0" "50" "1" "181767762" "181767762" "subst" "0" "01804" "CACNA1E_000108" "g.181767762G>T" "" "" "" "CACNA1E(NM_001205293.3):c.6734G>T (p.(Gly2245Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CACNA1E ## Count = 222 "{{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}}" "0000269575" "00004241" "10" "5470" "11" "5470" "15" "c.5470+11_5470+15del" "r.(=)" "p.(=)" "" "0000269575" "00025772" "10" "5470" "11" "5470" "15" "c.5470+11_5470+15del" "r.(=)" "p.(=)" "" "0000272482" "00004241" "50" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Arg829Ter)" "" "0000272482" "00025772" "50" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Arg829Ter)" "" "0000272483" "00004241" "10" "2577" "0" "2577" "0" "c.2577T>A" "r.(?)" "p.(Asp859Glu)" "" "0000272483" "00025772" "10" "2577" "0" "2577" "0" "c.2577T>A" "r.(?)" "p.(Asp859Glu)" "" "0000272484" "00004241" "30" "4548" "0" "4548" "0" "c.4548C>T" "r.(?)" "p.(Ala1516=)" "" "0000272484" "00025772" "30" "4548" "0" "4548" "0" "c.4548C>T" "r.(?)" "p.(Ala1516=)" "" "0000272485" "00004241" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Phe1578=)" "" "0000272485" "00025772" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Phe1578=)" "" "0000272486" "00004241" "50" "6655" "0" "6655" "0" "c.6655C>T" "r.(?)" "p.(Arg2219Cys)" "" "0000272486" "00025772" "50" "6784" "0" "6784" "0" "c.6784C>T" "r.(?)" "p.(Arg2262Cys)" "" "0000321160" "00004241" "50" "3502" "0" "3502" "0" "c.3502A>G" "r.(?)" "p.(Ile1168Val)" "" "0000321160" "00025772" "50" "3502" "0" "3502" "0" "c.3502A>G" "r.(?)" "p.(Ile1168Val)" "" "0000321161" "00004241" "50" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Lys)" "" "0000321161" "00025772" "50" "6359" "0" "6359" "0" "c.6359G>A" "r.(?)" "p.(Arg2120Lys)" "" "0000346019" "00004241" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "" "0000346019" "00025772" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "" "0000348752" "00004241" "50" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Ser1603Phe)" "" "0000348752" "00025772" "50" "4808" "0" "4808" "0" "c.4808C>T" "r.(?)" "p.(Ser1603Phe)" "" "0000410131" "00004241" "90" "683" "0" "683" "0" "c.683T>C" "r.(?)" "(p.Leu228Pro)" "5" "0000410132" "00004241" "90" "1042" "0" "1042" "0" "c.1042G>C" "r.(?)" "(p.Gly348Arg)" "7" "0000410133" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410134" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410135" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410136" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410137" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410138" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410139" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410140" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410141" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "(p.Gly352Arg)" "7" "0000410142" "00004241" "90" "1807" "0" "1807" "0" "c.1807A>C" "r.(?)" "(p.Ile603Leu)" "14" "0000410143" "00004241" "90" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "(p.Gly690Asp)" "16" "0000410144" "00004241" "90" "2093" "0" "2093" "0" "c.2093T>C" "r.(?)" "(p.Phe698Ser)" "17" "0000410145" "00004241" "90" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "(p.Ala700Thr)" "17" "0000410146" "00004241" "90" "2101" "0" "2101" "0" "c.2101A>G" "r.(?)" "(p.Ile701Val)" "17" "0000410147" "00004241" "90" "2101" "0" "2101" "0" "c.2101A>G" "r.(?)" "(p.Ile701Val)" "17" "0000410148" "00004241" "90" "2101" "0" "2101" "0" "c.2101A>G" "r.(?)" "(p.Ile701Val)" "17" "0000410149" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410150" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410151" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410152" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410153" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410154" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>A" "r.(?)" "(p.Ala702Thr)" "17" "0000410155" "00004241" "90" "2104" "0" "2104" "0" "c.2104G>C" "r.(?)" "(p.Ala702Pro)" "17" "0000410156" "00004241" "90" "4264" "0" "4264" "0" "c.4264A>T" "r.(?)" "(p.Ile1422Phe)" "30" "0000410157" "00004241" "90" "4274" "0" "4274" "0" "c.4274C>A" "r.(?)" "(p.Thr1425Asn)" "30" "0000410158" "00004241" "90" "4274" "0" "4274" "0" "c.4274C>A" "r.(?)" "(p.Thr1425Asn)" "30" "0000410159" "00004241" "90" "4288" "0" "4288" "0" "c.4288G>A" "r.(?)" "(p.Gly1430Arg)" "30" "0000410160" "00004241" "90" "5159" "0" "5159" "0" "c.5159C>G" "r.(?)" "(p.Ala1720Gly)" "38" "0000410161" "00004241" "90" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Arg829*)" "" "0000410162" "00004241" "90" "4165" "0" "4165" "0" "c.4165C>T" "r.(?)" "p.(Arg1389*)" "" "0000410163" "00004241" "90" "4263" "0" "4271" "0" "c.4263_4271delinsG" "r.(?)" "p.(Ile1422Hisfs*8)" "" "0000504378" "00004241" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "" "0000504378" "00025772" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Gly352Arg)" "" "0000504382" "00004241" "50" "4191" "0" "4191" "0" "c.4191G>A" "r.(?)" "p.(Met1397Ile)" "" "0000504382" "00025772" "50" "4191" "0" "4191" "0" "c.4191G>A" "r.(?)" "p.(Met1397Ile)" "" "0000504383" "00004241" "10" "4606" "-7" "4606" "-7" "c.4606-7T>C" "r.(=)" "p.(=)" "" "0000504383" "00025772" "10" "4606" "-7" "4606" "-7" "c.4606-7T>C" "r.(=)" "p.(=)" "" "0000504384" "00004241" "50" "6212" "0" "6212" "0" "c.6212C>T" "r.(?)" "p.(Pro2071Leu)" "" "0000504384" "00025772" "50" "6341" "0" "6341" "0" "c.6341C>T" "r.(?)" "p.(Pro2114Leu)" "" "0000504385" "00004241" "50" "6218" "0" "6218" "0" "c.6218G>A" "r.(?)" "p.(Arg2073His)" "" "0000504385" "00025772" "50" "6347" "0" "6347" "0" "c.6347G>A" "r.(?)" "p.(Arg2116His)" "" "0000504386" "00004241" "50" "6367" "0" "6367" "0" "c.6367C>A" "r.(?)" "p.(Pro2123Thr)" "" "0000504386" "00025772" "50" "6496" "0" "6496" "0" "c.6496C>A" "r.(?)" "p.(Pro2166Thr)" "" "0000604457" "00004241" "70" "4288" "0" "4288" "0" "c.4288G>A" "r.(?)" "p.(Gly1430Arg)" "" "0000620448" "00004241" "70" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Ala702Val)" "" "0000620448" "00025772" "70" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Ala702Val)" "" "0000620449" "00004241" "30" "3207" "0" "3207" "0" "c.3207C>T" "r.(?)" "p.(Ser1069=)" "" "0000620449" "00025772" "30" "3207" "0" "3207" "0" "c.3207C>T" "r.(?)" "p.(Ser1069=)" "" "0000653818" "00004241" "30" "1053" "0" "1053" "0" "c.1053C>A" "r.(?)" "p.(Ser351=)" "" "0000653818" "00025772" "30" "1053" "0" "1053" "0" "c.1053C>A" "r.(?)" "p.(Ser351=)" "" "0000653819" "00004241" "30" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000653819" "00025772" "30" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0000667603" "00004241" "70" "2093" "0" "2093" "0" "c.2093T>C" "r.(?)" "p.(Phe698Ser)" "" "0000667622" "00004241" "70" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Trp)" "" "0000675550" "00004241" "50" "3320" "0" "3320" "0" "c.3320A>T" "r.(?)" "p.(Asp1107Val)" "" "0000675550" "00025772" "50" "3320" "0" "3320" "0" "c.3320A>T" "r.(?)" "p.(Asp1107Val)" "" "0000675551" "00004241" "50" "6341" "0" "6341" "0" "c.6341G>A" "r.(?)" "p.(Arg2114Gln)" "" "0000675551" "00025772" "50" "6470" "0" "6470" "0" "c.6470G>A" "r.(?)" "p.(Arg2157Gln)" "" "0000675552" "00004241" "50" "6443" "0" "6445" "0" "c.6443_6445del" "r.(?)" "p.(Glu2148del)" "" "0000675552" "00025772" "50" "6572" "0" "6574" "0" "c.6572_6574del" "r.(?)" "p.(Glu2191del)" "" "0000675553" "00004241" "50" "6637" "0" "6637" "0" "c.6637G>A" "r.(?)" "p.(Val2213Met)" "" "0000675553" "00025772" "50" "6766" "0" "6766" "0" "c.6766G>A" "r.(?)" "p.(Val2256Met)" "" "0000717014" "00004241" "30" "1023" "0" "1023" "0" "c.1023T>C" "r.(?)" "p.(Phe341=)" "" "0000717014" "00025772" "30" "1023" "0" "1023" "0" "c.1023T>C" "r.(?)" "p.(Phe341=)" "" "0000717015" "00004241" "30" "1215" "0" "1215" "0" "c.1215C>A" "r.(?)" "p.(Ser405=)" "" "0000717015" "00025772" "30" "1215" "0" "1215" "0" "c.1215C>A" "r.(?)" "p.(Ser405=)" "" "0000717016" "00004241" "30" "4089" "0" "4089" "0" "c.4089G>T" "r.(?)" "p.(Leu1363=)" "" "0000717016" "00025772" "30" "4089" "0" "4089" "0" "c.4089G>T" "r.(?)" "p.(Leu1363=)" "" "0000717017" "00004241" "30" "5226" "0" "5226" "0" "c.5226C>T" "r.(?)" "p.(Asp1742=)" "" "0000717017" "00025772" "30" "5226" "0" "5226" "0" "c.5226C>T" "r.(?)" "p.(Asp1742=)" "" "0000717018" "00004241" "50" "5470" "1" "5470" "1" "c.5470+1G>T" "r.spl?" "p.?" "" "0000717018" "00025772" "50" "5470" "1" "5470" "1" "c.5470+1G>T" "r.spl?" "p.?" "" "0000717019" "00004241" "30" "5866" "0" "5866" "0" "c.5866G>A" "r.(?)" "p.(Asp1956Asn)" "" "0000717019" "00025772" "30" "5866" "0" "5866" "0" "c.5866G>A" "r.(?)" "p.(Asp1956Asn)" "" "0000798935" "00004241" "30" "512" "24" "512" "27" "c.512+24_512+27del" "r.(=)" "p.(=)" "" "0000798935" "00025772" "30" "512" "24" "512" "27" "c.512+24_512+27del" "r.(=)" "p.(=)" "" "0000798936" "00004241" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Ser351=)" "" "0000798936" "00025772" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Ser351=)" "" "0000798937" "00004241" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Trp)" "" "0000798937" "00025772" "50" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Arg419Trp)" "" "0000798938" "00004241" "30" "1308" "0" "1308" "0" "c.1308C>G" "r.(?)" "p.(Ser436=)" "" "0000798938" "00025772" "30" "1308" "0" "1308" "0" "c.1308C>G" "r.(?)" "p.(Ser436=)" "" "0000798939" "00004241" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "" "0000798939" "00025772" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "" "0000798940" "00004241" "30" "2298" "-16" "2298" "-16" "c.2298-16C>T" "r.(=)" "p.(=)" "" "0000798940" "00025772" "30" "2298" "-16" "2298" "-16" "c.2298-16C>T" "r.(=)" "p.(=)" "" "0000798941" "00004241" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000798941" "00025772" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000798942" "00004241" "30" "2612" "0" "2612" "0" "c.2612G>T" "r.(?)" "p.(Arg871Met)" "" "0000798942" "00025772" "30" "2612" "0" "2612" "0" "c.2612G>T" "r.(?)" "p.(Arg871Met)" "" "0000798943" "00004241" "50" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249Gln)" "" "0000798943" "00025772" "50" "3746" "0" "3746" "0" "c.3746G>A" "r.(?)" "p.(Arg1249Gln)" "" "0000798944" "00004241" "30" "3837" "0" "3837" "0" "c.3837C>T" "r.(?)" "p.(Phe1279=)" "" "0000798944" "00025772" "30" "3837" "0" "3837" "0" "c.3837C>T" "r.(?)" "p.(Phe1279=)" "" "0000848409" "00004241" "70" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Gln870*)" "" "0000848409" "00025772" "70" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Gln870*)" "" "0000848410" "00004241" "50" "5321" "0" "5321" "0" "c.5321C>T" "r.(?)" "p.(Pro1774Leu)" "" "0000848410" "00025772" "50" "5321" "0" "5321" "0" "c.5321C>T" "r.(?)" "p.(Pro1774Leu)" "" "0000848411" "00004241" "30" "5991" "0" "5991" "0" "c.5991G>A" "r.(?)" "p.(Glu1997=)" "" "0000848411" "00025772" "30" "6120" "0" "6120" "0" "c.6120G>A" "r.(?)" "p.(Glu2040=)" "" "0000857162" "00004241" "30" "1935" "0" "1935" "0" "c.1935A>G" "r.(?)" "p.(Ala645=)" "" "0000857162" "00025772" "30" "1935" "0" "1935" "0" "c.1935A>G" "r.(?)" "p.(Ala645=)" "" "0000857163" "00004241" "30" "2545" "0" "2545" "0" "c.2545C>A" "r.(?)" "p.(Arg849Ser)" "" "0000857163" "00025772" "30" "2545" "0" "2545" "0" "c.2545C>A" "r.(?)" "p.(Arg849Ser)" "" "0000857164" "00004241" "30" "4905" "0" "4905" "0" "c.4905C>T" "r.(?)" "p.(Asp1635=)" "" "0000857164" "00025772" "30" "4905" "0" "4905" "0" "c.4905C>T" "r.(?)" "p.(Asp1635=)" "" "0000857165" "00004241" "50" "6341" "0" "6341" "0" "c.6341G>A" "r.(?)" "p.(Arg2114Gln)" "" "0000857165" "00025772" "50" "6470" "0" "6470" "0" "c.6470G>A" "r.(?)" "p.(Arg2157Gln)" "" "0000882963" "00004241" "30" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852His)" "" "0000882963" "00025772" "30" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852His)" "" "0000882964" "00004241" "50" "3482" "0" "3482" "0" "c.3482T>C" "r.(?)" "p.(Leu1161Pro)" "" "0000882964" "00025772" "50" "3482" "0" "3482" "0" "c.3482T>C" "r.(?)" "p.(Leu1161Pro)" "" "0000882965" "00004241" "90" "4274" "0" "4274" "0" "c.4274C>A" "r.(?)" "p.(Thr1425Asn)" "" "0000882965" "00025772" "90" "4274" "0" "4274" "0" "c.4274C>A" "r.(?)" "p.(Thr1425Asn)" "" "0000908869" "00004241" "50" "616" "3" "616" "3" "c.616+3G>A" "r.=" "p.=" "" "0000908901" "00004241" "50" "4608" "0" "4608" "0" "c.4608C>T" "r.4608c>u" "p.Asn1536=" "" "0000918973" "00004241" "70" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771Cys)" "" "0000928074" "00004241" "30" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "" "0000928074" "00025772" "30" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "" "0000935931" "00025772" "70" "5197" "0" "5197" "0" "c.5197T>G" "r.(?)" "p.(Ser1733Ala)" "" "0000947050" "00004241" "50" "1145" "0" "1145" "0" "c.1145G>T" "r.(?)" "p.(Gly382Val)" "" "0000947050" "00025772" "50" "1145" "0" "1145" "0" "c.1145G>T" "r.(?)" "p.(Gly382Val)" "" "0000947051" "00004241" "70" "1534" "0" "1534" "0" "c.1534G>T" "r.(?)" "p.(Glu512*)" "" "0000947051" "00025772" "70" "1534" "0" "1534" "0" "c.1534G>T" "r.(?)" "p.(Glu512*)" "" "0000947052" "00004241" "50" "3512" "0" "3512" "0" "c.3512C>T" "r.(?)" "p.(Ala1171Val)" "" "0000947052" "00025772" "50" "3512" "0" "3512" "0" "c.3512C>T" "r.(?)" "p.(Ala1171Val)" "" "0000960665" "00004241" "30" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Val1019Met)" "" "0000960665" "00025772" "30" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Val1019Met)" "" "0000960667" "00004241" "50" "4030" "0" "4030" "0" "c.4030A>G" "r.(?)" "p.(Lys1344Glu)" "" "0000960667" "00025772" "50" "4030" "0" "4030" "0" "c.4030A>G" "r.(?)" "p.(Lys1344Glu)" "" "0000973486" "00004241" "30" "952" "-12397" "952" "-12397" "c.952-12397A>G" "r.(=)" "p.(=)" "" "0000973486" "00025772" "30" "952" "-12397" "952" "-12397" "c.952-12397A>G" "r.(=)" "p.(=)" "" "0000973487" "00004241" "50" "2483" "0" "2483" "0" "c.2483G>A" "r.(?)" "p.(Arg828Gln)" "" "0000973487" "00025772" "50" "2483" "0" "2483" "0" "c.2483G>A" "r.(?)" "p.(Arg828Gln)" "" "0000973488" "00004241" "50" "3827" "0" "3827" "0" "c.3827A>T" "r.(?)" "p.(Lys1276Met)" "" "0000973488" "00025772" "50" "3827" "0" "3827" "0" "c.3827A>T" "r.(?)" "p.(Lys1276Met)" "" "0000973489" "00004241" "30" "5711" "0" "5711" "0" "c.5711C>T" "r.(?)" "p.(Pro1904Leu)" "" "0000973489" "00025772" "30" "5711" "0" "5711" "0" "c.5711C>T" "r.(?)" "p.(Pro1904Leu)" "" "0000973490" "00004241" "30" "5898" "468" "5898" "468" "c.5898+468G>A" "r.(=)" "p.(=)" "" "0000973490" "00025772" "30" "5898" "468" "5898" "468" "c.5898+468G>A" "r.(=)" "p.(=)" "" "0000973491" "00004241" "50" "6060" "0" "6060" "0" "c.6060C>A" "r.(?)" "p.(His2020Gln)" "" "0000973491" "00025772" "50" "6189" "0" "6189" "0" "c.6189C>A" "r.(?)" "p.(His2063Gln)" "" "0000973492" "00004241" "30" "6271" "-207" "6271" "-207" "c.6271-207A>C" "r.(=)" "p.(=)" "" "0000973492" "00025772" "30" "6400" "-207" "6400" "-207" "c.6400-207A>C" "r.(=)" "p.(=)" "" "0000973493" "00004241" "50" "6311" "0" "6311" "0" "c.6311C>G" "r.(?)" "p.(Ser2104Cys)" "" "0000973493" "00025772" "50" "6440" "0" "6440" "0" "c.6440C>G" "r.(?)" "p.(Ser2147Cys)" "" "0000990587" "00004241" "30" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Thr42Pro)" "" "0000990587" "00025772" "30" "124" "0" "124" "0" "c.124A>C" "r.(?)" "p.(Thr42Pro)" "" "0000990588" "00004241" "70" "1171" "1" "1171" "1" "c.1171+1G>T" "r.spl?" "p.?" "" "0000990588" "00025772" "70" "1171" "1" "1171" "1" "c.1171+1G>T" "r.spl?" "p.?" "" "0000990589" "00004241" "30" "2477" "0" "2477" "0" "c.2477T>G" "r.(?)" "p.(Leu826Arg)" "" "0000990589" "00025772" "30" "2477" "0" "2477" "0" "c.2477T>G" "r.(?)" "p.(Leu826Arg)" "" "0000990590" "00004241" "30" "2665" "0" "2665" "0" "c.2665C>G" "r.(?)" "p.(His889Asp)" "" "0000990590" "00025772" "30" "2665" "0" "2665" "0" "c.2665C>G" "r.(?)" "p.(His889Asp)" "" "0000990591" "00004241" "50" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Arg911Trp)" "" "0000990591" "00025772" "50" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Arg911Trp)" "" "0000990592" "00004241" "50" "3184" "0" "3184" "0" "c.3184A>G" "r.(?)" "p.(Lys1062Glu)" "" "0000990592" "00025772" "50" "3184" "0" "3184" "0" "c.3184A>G" "r.(?)" "p.(Lys1062Glu)" "" "0000990593" "00004241" "50" "3352" "0" "3354" "0" "c.3352_3354del" "r.(?)" "p.(Lys1118del)" "" "0000990593" "00025772" "50" "3352" "0" "3354" "0" "c.3352_3354del" "r.(?)" "p.(Lys1118del)" "" "0000990594" "00004241" "30" "4651" "0" "4651" "0" "c.4651A>G" "r.(?)" "p.(Ile1551Val)" "" "0000990594" "00025772" "30" "4651" "0" "4651" "0" "c.4651A>G" "r.(?)" "p.(Ile1551Val)" "" "0000990595" "00004241" "50" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932Gln)" "" "0000990595" "00025772" "50" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932Gln)" "" "0000990596" "00004241" "50" "5927" "0" "5927" "0" "c.5927G>A" "r.(?)" "p.(Arg1976His)" "" "0000990596" "00025772" "50" "6056" "0" "6056" "0" "c.6056G>A" "r.(?)" "p.(Arg2019His)" "" "0000990597" "00004241" "50" "5966" "0" "5966" "0" "c.5966C>T" "r.(?)" "p.(Ser1989Leu)" "" "0000990597" "00025772" "50" "6095" "0" "6095" "0" "c.6095C>T" "r.(?)" "p.(Ser2032Leu)" "" "0000990598" "00004241" "30" "5986" "0" "5986" "0" "c.5986A>G" "r.(?)" "p.(Met1996Val)" "" "0000990598" "00025772" "30" "6115" "0" "6115" "0" "c.6115A>G" "r.(?)" "p.(Met2039Val)" "" "0000990599" "00004241" "30" "6406" "0" "6406" "0" "c.6406G>A" "r.(?)" "p.(Ala2136Thr)" "" "0000990599" "00025772" "30" "6535" "0" "6535" "0" "c.6535G>A" "r.(?)" "p.(Ala2179Thr)" "" "0000990600" "00004241" "30" "6727" "0" "6727" "0" "c.6727C>T" "r.(?)" "p.(Arg2243Trp)" "" "0000990600" "00025772" "30" "6856" "0" "6856" "0" "c.6856C>T" "r.(?)" "p.(Arg2286Trp)" "" "0001013245" "00004241" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Arg425Pro)" "" "0001013245" "00025772" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Arg425Pro)" "" "0001013246" "00004241" "30" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Arg925His)" "" "0001013246" "00025772" "30" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Arg925His)" "" "0001013247" "00004241" "30" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Lys)" "" "0001013247" "00025772" "30" "6359" "0" "6359" "0" "c.6359G>A" "r.(?)" "p.(Arg2120Lys)" "" "0001024072" "00004241" "50" "6204" "0" "6204" "0" "c.6204G>A" "r.(?)" "p.(Trp2068*)" "" "0001024072" "00025772" "50" "6333" "0" "6333" "0" "c.6333G>A" "r.(?)" "p.(Trp2111*)" "" "0001031515" "00004241" "50" "-229" "0" "-229" "0" "c.-229C>A" "r.(?)" "p.(=)" "" "0001031515" "00025772" "50" "-229" "0" "-229" "0" "c.-229C>A" "r.(?)" "p.(=)" "" "0001031516" "00004241" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ser33Leu)" "" "0001031516" "00025772" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ser33Leu)" "" "0001031517" "00004241" "30" "1569" "0" "1569" "0" "c.1569G>A" "r.(?)" "p.(Met523Ile)" "" "0001031517" "00025772" "30" "1569" "0" "1569" "0" "c.1569G>A" "r.(?)" "p.(Met523Ile)" "" "0001031518" "00004241" "50" "2480" "0" "2480" "0" "c.2480A>G" "r.(?)" "p.(Tyr827Cys)" "" "0001031518" "00025772" "50" "2480" "0" "2480" "0" "c.2480A>G" "r.(?)" "p.(Tyr827Cys)" "" "0001031519" "00004241" "30" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Arg911Trp)" "" "0001031519" "00025772" "30" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Arg911Trp)" "" "0001031520" "00004241" "30" "3540" "0" "3540" "0" "c.3540G>A" "r.(?)" "p.(=)" "" "0001031520" "00025772" "30" "3540" "0" "3540" "0" "c.3540G>A" "r.(?)" "p.(=)" "" "0001031521" "00004241" "50" "5899" "-1137" "5899" "-1137" "c.5899-1137G>A" "r.(=)" "p.(=)" "" "0001031521" "00025772" "50" "5961" "0" "5961" "0" "c.5961G>A" "r.(?)" "p.(=)" "" "0001031522" "00004241" "10" "6218" "0" "6218" "0" "c.6218G>A" "r.(?)" "p.(Arg2073His)" "" "0001031522" "00025772" "10" "6347" "0" "6347" "0" "c.6347G>A" "r.(?)" "p.(Arg2116His)" "" "0001031523" "00004241" "50" "6605" "0" "6605" "0" "c.6605G>T" "r.(?)" "p.(Gly2202Val)" "" "0001031523" "00025772" "50" "6734" "0" "6734" "0" "c.6734G>T" "r.(?)" "p.(Gly2245Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000185014" "0000410131" "0000185015" "0000410132" "0000185016" "0000410133" "0000185017" "0000410134" "0000185018" "0000410135" "0000185019" "0000410136" "0000185020" "0000410137" "0000185021" "0000410138" "0000185022" "0000410139" "0000185023" "0000410140" "0000185024" "0000410141" "0000185025" "0000410142" "0000185026" "0000410143" "0000185027" "0000410144" "0000185028" "0000410145" "0000185029" "0000410146" "0000185030" "0000410147" "0000185031" "0000410148" "0000185032" "0000410149" "0000185033" "0000410150" "0000185034" "0000410151" "0000185035" "0000410152" "0000185036" "0000410153" "0000185037" "0000410154" "0000185038" "0000410155" "0000185039" "0000410156" "0000185040" "0000410157" "0000185041" "0000410158" "0000185042" "0000410159" "0000185043" "0000410160" "0000185044" "0000410161" "0000185045" "0000410162" "0000185046" "0000410163" "0000270674" "0000604457" "0000304190" "0000667603" "0000304190" "0000667622" "0000429396" "0000908869" "0000429428" "0000908901" "0000433326" "0000918973" "0000439802" "0000935931"