### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1H) # 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}}" "CACNA1H" "calcium channel, voltage-dependent, T type, alpha 1H subunit" "16" "p13.3" "unknown" "NG_012647.1" "UD_132118322883" "" "https://www.LOVD.nl/CACNA1H" "" "1" "1395" "8912" "607904" "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/CACNA1H_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-07 17:42:26" "00000" "2026-01-19 13:16:04" ## 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}}" "00023854" "CACNA1H" "transcript variant 1" "001" "NM_021098.2" "" "NP_066921.2" "" "" "" "-248" "7840" "7062" "1203241" "1271772" "00008" "2013-11-25 14:24:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01424" "VMD" "dystrophy, macular, vitelliform (VMD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-06 09:48:47" "03075" "ECA6" "epilepsy, childhood absence, type 6 (ECA-6)" "" "611942" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05231" "HALD4" "hyperaldosteronism, familial, type IV (HALD41)" "AD" "617027" "" "" "" "00006" "2017-03-05 14:59:23" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CACNA1H" "03075" "CACNA1H" "05231" ## Individuals ## Do not remove or alter this header ## ## Count = 76 "{{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}}" "00035018" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035019" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035020" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035021" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035022" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035023" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035024" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035025" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035026" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035027" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035028" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035029" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035030" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035031" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035032" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035033" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035034" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035035" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035036" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035037" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035038" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035039" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035040" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035041" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035042" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035043" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035044" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035045" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035046" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035047" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035048" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035049" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035050" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035051" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035052" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035053" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035054" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035055" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035056" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035057" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035058" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035059" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035060" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035061" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035062" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035063" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035064" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035065" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035066" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035067" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00147128" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat36_S4" "00150171" "" "" "" "4" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5391" "00181186" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "ancestors from Switzerland and South Italy" "62075" "00210009" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00291355" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291356" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291357" "" "" "" "140" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291358" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291359" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291360" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291361" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291362" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291363" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295910" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296550" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304490" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305912" "" "" "" "1" "" "00006" "{PMID:Marcogliese 2018:30057031}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "Pat4" "00334678" "" "" "" "7" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00374457" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4256" "00374673" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5549" "00374674" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4738" "00374675" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5457" "00374676" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2377" "00374677" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-487" "00438693" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0719" "00455167" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "306547" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00147128" "05162" "00150171" "00198" "00181186" "00344" "00291355" "00198" "00291356" "00198" "00291357" "00198" "00291358" "00198" "00291359" "00198" "00291360" "00198" "00291361" "00198" "00291362" "00198" "00291363" "00198" "00295910" "00198" "00296550" "00198" "00304490" "00198" "00305912" "01424" "00305912" "05611" "00334678" "04214" "00374457" "00198" "00374673" "00198" "00374674" "00198" "00374675" "00198" "00374676" "00198" "00374677" "00198" "00438693" "06906" "00455167" "03075" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 01424, 03075, 04214, 05162, 05231, 05611, 06906 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000122573" "00198" "00150171" "00006" "Complex" "" "intellectual diability, microcephaly, cortical atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000144012" "00344" "00181186" "02552" "Isolated (sporadic)" "" "" "00y10m" "" "" "" "" "" "" "" "" "" "" "0000158604" "00198" "00210009" "01164" "Unknown" "" "HP:0001251 (Ataxia); HP:0011442 (Abnormality of central motor function)" "" "" "" "" "" "" "" "" "" "" "" "0000171226" "05162" "00147128" "02357" "Isolated (sporadic)" "" "developmental delay, intellectual disability, epilepsy, ventricular septal defect." "" "" "" "" "" "" "" "" "ECA-6" "developmental delay" "" "0000223386" "00198" "00295910" "01164" "Unknown" "" "Abnormality of higher mental function (HP:0011446); Apnea (HP:0002104); Generalized seizures (HP:0002197)" "" "" "" "" "" "" "" "" "" "" "" "0000223957" "00198" "00296550" "01164" "Unknown" "" "Abnormality of nervous system physiology (HP:0012638); Abnormality of neuronal migration (HP:0002269); Heterotopia (HP:0002282); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000231759" "05611" "00305912" "00006" "Unknown" "16y" "no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal" "" "" "" "" "" "" "" "" "NDD;VMD2" "" "" "0000269667" "00198" "00374457" "00006" "Familial, autosomal recessive" "" "Neurodevelopmental delay, seizures, strabismus, hypotonia, microcephaly, hypomyelination, spasticity, flat faces and visual impairment" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269883" "00198" "00374673" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269884" "00198" "00374674" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269885" "00198" "00374675" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269886" "00198" "00374676" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "abnormal head and limb movements" "" "0000269887" "00198" "00374677" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328596" "06906" "00438693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000343747" "03075" "00455167" "01164" "Familial, autosomal dominant" "03y" "EEG abnormality, Febrile seizure (within the age range of 3 months to 6 years), Complex febrile seizure" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 76 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035088" "00035018" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035089" "00035019" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035090" "00035020" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035091" "00035021" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035092" "00035022" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035093" "00035023" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035094" "00035024" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035095" "00035025" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035096" "00035026" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035097" "00035027" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035098" "00035028" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035099" "00035029" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035100" "00035030" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035101" "00035031" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035102" "00035032" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035103" "00035033" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035104" "00035034" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035105" "00035035" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035106" "00035036" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035107" "00035037" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035108" "00035038" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035109" "00035039" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035110" "00035040" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035111" "00035041" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035112" "00035042" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035113" "00035043" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035114" "00035044" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035115" "00035045" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035116" "00035046" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035117" "00035047" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035118" "00035048" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035119" "00035049" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035120" "00035050" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035121" "00035051" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035122" "00035052" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035123" "00035053" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035124" "00035054" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035125" "00035055" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035126" "00035056" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035127" "00035057" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035128" "00035058" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035129" "00035059" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035130" "00035060" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035131" "00035061" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035132" "00035062" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035133" "00035063" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035134" "00035064" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035135" "00035065" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035136" "00035066" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035137" "00035067" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000147983" "00147128" "1" "02357" "02357" "2018-01-02 11:06:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000151026" "00150171" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000182144" "00181186" "1" "02552" "02552" "2018-10-02 15:30:10" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000211066" "00210009" "1" "01164" "01164" "2018-12-25 09:53:56" "" "" "SEQ-NG" "DNA" "" "" "0000292523" "00291355" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292524" "00291356" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292525" "00291357" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292526" "00291358" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292527" "00291359" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292528" "00291360" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292529" "00291361" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292530" "00291362" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292531" "00291363" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297082" "00295910" "1" "01164" "01164" "2020-03-30 10:43:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000297660" "00296550" "1" "01164" "01164" "2020-04-08 09:59:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305619" "00304490" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307042" "00305912" "1" "00006" "00006" "2020-07-05 16:07:27" "00006" "2020-07-06 09:46:49" "SEQ;SEQ-NG" "DNA" "" "" "0000335907" "00334678" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000375651" "00374457" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375867" "00374673" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375868" "00374674" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375869" "00374675" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375870" "00374676" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375871" "00374677" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000440175" "00438693" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000456780" "00455167" "1" "01164" "01164" "2024-10-02 18:50:07" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{geneid}}" "0000035088" "CACNA1H" "0000035089" "CACNA1H" "0000035090" "CACNA1H" "0000035091" "CACNA1H" "0000035092" "CACNA1H" "0000035093" "CACNA1H" "0000035094" "CACNA1H" "0000035095" "CACNA1H" "0000035096" "CACNA1H" "0000035097" "CACNA1H" "0000035098" "CACNA1H" "0000035099" "CACNA1H" "0000035100" "CACNA1H" "0000035101" "CACNA1H" "0000035102" "CACNA1H" "0000035103" "CACNA1H" "0000035104" "CACNA1H" "0000035105" "CACNA1H" "0000035106" "CACNA1H" "0000035107" "CACNA1H" "0000035108" "CACNA1H" "0000035109" "CACNA1H" "0000035110" "CACNA1H" "0000035111" "CACNA1H" "0000035112" "CACNA1H" "0000035113" "CACNA1H" "0000035114" "CACNA1H" "0000035115" "CACNA1H" "0000035116" "CACNA1H" "0000035117" "CACNA1H" "0000035118" "CACNA1H" "0000035119" "CACNA1H" "0000035120" "CACNA1H" "0000035121" "CACNA1H" "0000035122" "CACNA1H" "0000035123" "CACNA1H" "0000035124" "CACNA1H" "0000035125" "CACNA1H" "0000035126" "CACNA1H" "0000035127" "CACNA1H" "0000035128" "CACNA1H" "0000035129" "CACNA1H" "0000035130" "CACNA1H" "0000035131" "CACNA1H" "0000035132" "CACNA1H" "0000035133" "CACNA1H" "0000035134" "CACNA1H" "0000035135" "CACNA1H" "0000035136" "CACNA1H" "0000035137" "CACNA1H" "0000147983" "CACNA1H" "0000151026" "CACNA1H" "0000307042" "BEST1" "0000307042" "IRF2BPL" "0000375651" "RNASEH2C" "0000375867" "CACNA1H" "0000375868" "CACNA1H" "0000375869" "CACNA1H" "0000375870" "CACNA1H" "0000375871" "CACNA1H" "0000456780" "CACNA1H" ## 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 = 425 "{{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}}" "0000062207" "1" "10" "16" "1255277" "1255277" "subst" "0.120321" "01164" "CACNA1H_000014" "g.1255277C>T" "" "" "" "" "" "Germline" "" "rs2745150" "0" "" "" "g.1205277C>T" "" "benign" "" "0000062208" "1" "50" "16" "1260012" "1260012" "subst" "0" "01164" "CACNA1H_000020" "g.1260012G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1210012G>A" "" "VUS" "" "0000062209" "1" "50" "16" "1255044" "1255044" "del" "0" "01164" "CACNA1H_000012" "g.1255044del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1205044del" "" "VUS" "" "0000062210" "1" "10" "16" "1257731" "1257731" "subst" "0.78228" "01164" "CACNA1H_000018" "g.1257731G>A" "" "" "" "" "" "Germline" "" "rs60552333" "0" "" "" "g.1207731G>A" "" "benign" "" "0000062211" "1" "10" "16" "1259456" "1259456" "subst" "0.115691" "01164" "CACNA1H_000019" "g.1259456G>C" "" "" "" "" "" "Germline" "" "rs2745166" "0" "" "" "g.1209456G>C" "" "benign" "" "0000062212" "1" "10" "16" "1270350" "1270350" "subst" "0.00256625" "01164" "CACNA1H_000029" "g.1270350G>A" "" "" "" "" "PolyPhen: benign" "Germline" "" "rs59487037" "0" "" "" "g.1220350G>A" "" "benign" "" "0000062213" "1" "10" "16" "1268979" "1268979" "subst" "0.0169781" "01164" "CACNA1H_000033" "g.1268979C>T" "" "" "" "" "" "Germline" "" "rs72552054" "0" "" "" "g.1218979C>T" "" "benign" "" "0000062214" "1" "50" "16" "1255040" "1255040" "subst" "0" "01164" "CACNA1H_000011" "g.1255040G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1205040G>C" "" "VUS" "" "0000062215" "1" "10" "16" "1265600" "1265600" "subst" "0.137431" "01164" "CACNA1H_000046" "g.1265600G>A" "" "" "" "" "" "Germline" "" "rs2235634" "0" "" "" "g.1215600G>A" "" "benign" "" "0000062216" "1" "10" "16" "1256085" "1256085" "subst" "0.0860214" "01164" "CACNA1H_000015" "g.1256085C>T" "" "" "" "" "" "Germline" "" "rs11646893" "0" "" "" "g.1206085C>T" "" "benign" "" "0000062217" "1" "10" "16" "1268485" "1268485" "subst" "0.117687" "01164" "CACNA1H_000031" "g.1268485C>T" "" "" "" "" "" "Germline" "" "rs2738891" "0" "" "" "g.1218485C>T" "" "benign" "" "0000062218" "1" "10" "16" "1250559" "1250559" "subst" "0.370987" "01164" "CACNA1H_000004" "g.1250559T>C" "" "" "" "" "" "Germline" "" "rs8044363" "0" "" "" "g.1200559T>C" "" "benign" "" "0000062219" "1" "10" "16" "1254369" "1254369" "subst" "0.0817724" "01164" "CACNA1H_000009" "g.1254369C>T" "" "" "" "" "" "Germline" "" "rs3751664" "0" "" "" "g.1204369C>T" "" "benign" "" "0000062220" "1" "10" "16" "1263949" "1263949" "subst" "0.00858217" "01164" "CACNA1H_000045" "g.1263949G>A" "" "" "" "" "" "Germline" "" "rs59548273" "0" "" "" "g.1213949G>A" "" "benign" "" "0000062221" "1" "10" "16" "1265621" "1265621" "subst" "0.110333" "01164" "CACNA1H_000047" "g.1265621G>A" "" "" "" "" "" "Germline" "" "rs2753322" "0" "" "" "g.1215621G>A" "" "benign" "" "0000062222" "1" "10" "16" "1252118" "1252118" "subst" "0.114244" "01164" "CACNA1H_000006" "g.1252118C>T" "" "" "" "" "" "Germline" "" "rs2407083" "0" "" "" "g.1202118C>T" "" "benign" "" "0000062223" "1" "10" "16" "1252259" "1252259" "subst" "0.417964" "01164" "CACNA1H_000007" "g.1252259A>G" "" "" "" "" "" "Germline" "" "rs9934839" "0" "" "" "g.1202259A>G" "" "benign" "" "0000062224" "1" "10" "16" "1261282" "1261282" "subst" "0.859814" "01164" "CACNA1H_000043" "g.1261282T>C" "" "" "" "" "" "Germline" "" "rs4984637" "0" "" "" "g.1211282T>C" "" "benign" "" "0000062225" "1" "10" "16" "1269183" "1269183" "subst" "0" "01164" "CACNA1H_000037" "g.1269183A>G" "" "" "" "" "" "Germline" "" "rs72552058" "0" "" "" "g.1219183A>G" "" "benign" "" "0000062226" "1" "10" "16" "1269147" "1269147" "del" "0" "01164" "CACNA1H_000036" "g.1269147del" "" "" "" "" "" "Germline" "" "rs3833845" "0" "" "" "g.1219147del" "" "benign" "" "0000062227" "1" "10" "16" "1269029" "1269029" "subst" "0.651346" "01164" "CACNA1H_000034" "g.1269029T>C" "" "" "" "" "" "Germline" "" "rs2738893" "0" "" "" "g.1219029T>C" "" "benign" "" "0000062228" "1" "10" "16" "1261377" "1261377" "subst" "0" "01164" "CACNA1H_000044" "g.1261377G>A" "" "" "" "" "" "Germline" "" "rs2738900" "0" "" "" "g.1211377G>A" "" "benign" "" "0000062229" "1" "10" "16" "1255058" "1255058" "subst" "0" "01164" "CACNA1H_000013" "g.1255058T>G" "" "" "" "" "" "Germline" "" "rs8052049" "0" "" "" "g.1205058T>G" "" "benign" "" "0000062230" "1" "10" "16" "1244887" "1244887" "subst" "0" "01164" "CACNA1H_000001" "g.1244887T>A" "" "" "" "" "" "Germline" "" "rs9936834" "0" "" "" "g.1194887T>A" "" "benign" "" "0000062231" "1" "10" "16" "1268494" "1268494" "subst" "0.652983" "01164" "CACNA1H_000032" "g.1268494C>T" "" "" "" "" "" "Germline" "" "rs2745136" "0" "" "" "g.1218494C>T" "" "benign" "" "0000062232" "1" "10" "16" "1260021" "1260021" "subst" "0.866248" "01164" "CACNA1H_000021" "g.1260021G>T" "" "" "" "" "" "Germline" "" "rs8056494" "0" "" "" "g.1210021G>T" "" "benign" "" "0000062233" "1" "50" "16" "1245125" "1245125" "subst" "0" "01164" "CACNA1H_000002" "g.1245125T>C" "" "" "" "" "result: prob. not pathogenic" "Germline" "" "" "0" "" "" "g.1195125T>C" "" "VUS" "" "0000062234" "1" "10" "16" "1252369" "1252369" "subst" "0.386016" "01164" "CACNA1H_000008" "g.1252369C>T" "" "" "" "" "" "Germline" "" "rs61734410" "0" "" "" "g.1202369C>T" "" "benign" "" "0000062235" "1" "10" "16" "1268376" "1268376" "subst" "0.0548607" "01164" "CACNA1H_000030" "g.1268376G>A" "" "" "" "" "" "Germline" "" "rs58124832" "0" "" "" "g.1218376G>A" "" "benign" "" "0000062236" "1" "10" "16" "1260528" "1260528" "subst" "0.0506341" "01164" "CACNA1H_000023" "g.1260528C>T" "" "" "" "" "" "Germline" "" "rs111903030" "0" "" "" "g.1210528C>T" "" "benign" "" "0000062237" "1" "10" "16" "1261219" "1261219" "subst" "0.651708" "01164" "CACNA1H_000041" "g.1261219A>G" "" "" "" "" "" "Germline" "" "rs2738898" "0" "" "" "g.1211219A>G" "" "benign" "" "0000062238" "1" "10" "16" "1261024" "1261024" "subst" "0" "01164" "CACNA1H_000040" "g.1261024C>T" "" "" "" "" "" "Germline" "" "rs2738898" "0" "" "" "g.1211024C>T" "" "benign" "" "0000062239" "1" "10" "16" "1260969" "1260969" "subst" "0.0918473" "01164" "CACNA1H_000039" "g.1260969G>A" "" "" "" "" "" "Germline" "" "rs61910714" "0" "" "" "g.1210969G>A" "" "benign" "" "0000062240" "1" "10" "16" "1261222" "1261222" "subst" "0.651845" "01164" "CACNA1H_000042" "g.1261222A>G" "" "" "" "" "" "Germline" "" "rs2753325" "0" "" "" "g.1211222A>G" "" "benign" "" "0000062241" "1" "10" "16" "1260767" "1260767" "subst" "0.550881" "01164" "CACNA1H_000025" "g.1260767G>A" "" "" "" "" "" "Germline" "" "rs2738897" "0" "" "" "g.1210767G>A" "" "benign" "" "0000062242" "1" "50" "16" "1257304" "1257304" "subst" "8.74483E-5" "01164" "CACNA1H_000016" "g.1257304C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1207304C>G" "" "VUS" "" "0000062243" "1" "10" "16" "1260481" "1260481" "subst" "0.859784" "01164" "CACNA1H_000022" "g.1260481T>C" "" "" "" "" "" "Germline" "" "rs8063574" "0" "" "" "g.1210481T>C" "" "benign" "" "0000062244" "1" "10" "16" "1257334" "1257334" "subst" "0.00352494" "01164" "CACNA1H_000017" "g.1257334C>T" "" "" "" "" "" "Germline" "" "rs59090452" "0" "" "" "g.1207334C>T" "" "benign" "" "0000062245" "1" "10" "16" "1251803" "1251803" "subst" "0.117238" "01164" "CACNA1H_000005" "g.1251803C>T" "" "" "" "" "" "Germline" "" "rs9922076" "0" "" "" "g.1201803C>T" "" "benign" "" "0000062246" "1" "50" "16" "1255030" "1255030" "subst" "0" "01164" "CACNA1H_000010" "g.1255030A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1205030A>G" "" "VUS" "" "0000062247" "1" "10" "16" "1270111" "1270111" "subst" "0.108204" "01164" "CACNA1H_000026" "g.1270111G>A" "" "" "" "" "" "Germline" "" "rs1054644" "0" "" "" "g.1220111G>A" "" "benign" "" "0000062248" "1" "10" "16" "1269095" "1269095" "subst" "0.0566159" "01164" "CACNA1H_000035" "g.1269095C>T" "" "" "" "" "polyphen: benign" "Germline" "" "rs72552056" "0" "" "" "g.1219095C>T" "" "benign" "" "0000062249" "1" "10" "16" "1250389" "1250389" "subst" "0.132972" "01164" "CACNA1H_000003" "g.1250389A>G" "" "" "" "" "" "Germline" "" "rs36117280" "0" "" "" "g.1200389A>G" "" "benign" "" "0000062250" "1" "10" "16" "1270162" "1270162" "subst" "0.656134" "01164" "CACNA1H_000027" "g.1270162G>A" "" "" "" "" "" "Germline" "" "rs1054645" "0" "" "" "g.1220162G>A" "" "benign" "" "0000062251" "1" "10" "16" "1244877" "1244877" "subst" "0" "01164" "CACNA1H_000038" "g.1244877G>A" "" "" "" "" "" "Germline" "" "rs3751661" "0" "" "" "g.1194877G>A" "" "benign" "" "0000062252" "1" "10" "16" "1204056" "1204076" "del" "0" "01164" "CACNA1H_000049" "g.1204056_1204076del" "" "" "" "" "found in healthy controls" "Germline" "" "" "0" "" "" "g.1154056_1154076del" "" "benign" "" "0000062253" "1" "10" "16" "1270349" "1270349" "subst" "0.857613" "01164" "CACNA1H_000028" "g.1270349T>C" "" "" "" "" "" "Germline" "" "rs4247094" "0" "" "" "g.1220349T>C" "" "benign" "" "0000062254" "1" "50" "16" "1269147" "1269147" "del" "0" "01164" "CACNA1H_000036" "g.1269147del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1219147del" "" "VUS" "" "0000062255" "1" "10" "16" "1260636" "1260636" "subst" "0.0554208" "01164" "CACNA1H_000024" "g.1260636G>A" "" "" "" "" "" "Germline" "" "rs28365124" "0" "" "" "g.1210636G>A" "" "benign" "" "0000062256" "1" "10" "16" "1268013" "1268013" "subst" "0.0547608" "01164" "CACNA1H_000048" "g.1268013G>C" "" "" "" "" "" "Germline" "" "rs57135930" "0" "" "" "g.1218013G>C" "" "benign" "" "0000241265" "0" "70" "16" "1268439" "1268439" "subst" "0.000333971" "02357" "CACNA1H_000050" "g.1268439G>A" "" "{PMID:Han 2018:30631761}" "" "" "" "De novo" "" "" "0" "" "" "g.1218439G>A" "" "likely pathogenic" "" "0000244187" "1" "90" "16" "1254058" "1254058" "subst" "0" "00006" "CACNA1H_000051" "g.1254058C>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_021098: c.C2051A; p.P684H" "" "Germline" "" "" "0" "" "" "g.1204058C>A" "" "pathogenic" "" "0000244188" "2" "90" "16" "1270830" "1270830" "subst" "6.10366E-5" "00006" "CACNA1H_000052" "g.1270830A>G" "" "{PMID:Karaca 2015:26539891}" "" "NM_021098: c.A6898G; p.I2300V" "" "Germline" "" "" "0" "" "" "g.1220830A>G" "" "pathogenic" "" "0000248678" "0" "10" "16" "1261219" "1261219" "subst" "0.651708" "02325" "CACNA1H_000041" "g.1261219A>G" "" "" "" "CACNA1H(NM_021098.3):c.4275A>G (p.S1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211219A>G" "" "benign" "" "0000248679" "0" "10" "16" "1261222" "1261222" "subst" "0.651845" "02325" "CACNA1H_000042" "g.1261222A>G" "" "" "" "CACNA1H(NM_021098.3):c.4278A>G (p.S1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211222A>G" "" "benign" "" "0000251040" "0" "10" "16" "1252259" "1252259" "subst" "0.417964" "02326" "CACNA1H_000007" "g.1252259A>G" "" "" "" "CACNA1H(NM_021098.3):c.1809A>G (p.R603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202259A>G" "" "benign" "" "0000251903" "0" "30" "16" "1254361" "1254361" "subst" "0.00358092" "02326" "CACNA1H_000080" "g.1254361A>T" "" "" "" "CACNA1H(NM_001005407.1):c.2354A>T (p.(Lys785Met)), CACNA1H(NM_021098.3):c.2354A>T (p.K785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204361A>T" "" "likely benign" "" "0000252275" "0" "30" "16" "1250090" "1250090" "subst" "0" "02326" "CACNA1H_000136" "g.1250090A>G" "" "" "" "CACNA1H(NM_021098.3):c.804-166A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200090A>G" "" "likely benign" "" "0000252276" "0" "30" "16" "1260364" "1260364" "subst" "0.134213" "02326" "CACNA1H_000138" "g.1260364A>C" "" "" "" "CACNA1H(NM_001005407.1):c.3846-6A>C (p.(=)), CACNA1H(NM_021098.3):c.3846-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210364A>C" "" "likely benign" "" "0000266440" "0" "30" "16" "1254236" "1254236" "subst" "0.000537829" "02325" "CACNA1H_000077" "g.1254236G>A" "" "" "" "CACNA1H(NM_021098.3):c.2229G>A (p.T743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204236G>A" "" "likely benign" "" "0000266441" "0" "10" "16" "1204007" "1204007" "subst" "0.00976994" "02325" "CACNA1H_000053" "g.1204007C>G" "" "" "" "CACNA1H(NM_021098.3):c.270C>G (p.R90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1154007C>G" "" "benign" "" "0000266442" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "02325" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209257G>A" "" "likely benign" "" "0000266443" "0" "10" "16" "1260021" "1260021" "subst" "0.866248" "02325" "CACNA1H_000021" "g.1260021G>T" "" "" "" "CACNA1H(NM_021098.3):c.3745-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210021G>T" "" "benign" "" "0000266444" "0" "10" "16" "1260481" "1260481" "subst" "0.859784" "02325" "CACNA1H_000022" "g.1260481T>C" "" "" "" "CACNA1H(NM_021098.3):c.3957T>C (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210481T>C" "" "benign" "" "0000266445" "0" "10" "16" "1260767" "1260767" "subst" "0.550881" "02325" "CACNA1H_000025" "g.1260767G>A" "" "" "" "CACNA1H(NM_021098.3):c.4039-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210767G>A" "" "benign" "" "0000266446" "0" "10" "16" "1261282" "1261282" "subst" "0.859814" "02325" "CACNA1H_000043" "g.1261282T>C" "" "" "" "CACNA1H(NM_021098.3):c.4338T>C (p.I1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211282T>C" "" "benign" "" "0000266447" "0" "10" "16" "1245509" "1245509" "subst" "0.00493654" "02325" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195509G>C" "" "benign" "" "0000266448" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "02325" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218257C>T" "" "benign" "" "0000266449" "0" "10" "16" "1268494" "1268494" "subst" "0.652983" "02325" "CACNA1H_000032" "g.1268494C>T" "" "" "" "CACNA1H(NM_021098.3):c.5730C>T (p.D1910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218494C>T" "" "benign" "" "0000266450" "0" "10" "16" "1269029" "1269029" "subst" "0.651346" "02325" "CACNA1H_000034" "g.1269029T>C" "" "" "" "CACNA1H(NM_021098.3):c.5947T>C (p.L1983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219029T>C" "" "benign" "" "0000266451" "0" "30" "16" "1269147" "1269147" "del" "0" "02325" "CACNA1H_000036" "g.1269147del" "" "" "" "CACNA1H(NM_021098.3):c.6048+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219147del" "" "likely benign" "" "0000266452" "0" "10" "16" "1270162" "1270162" "subst" "0.656134" "02325" "CACNA1H_000027" "g.1270162G>A" "" "" "" "CACNA1H(NM_021098.3):c.6230G>A (p.R2077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220162G>A" "" "benign" "" "0000266453" "0" "10" "16" "1270349" "1270349" "subst" "0.857613" "02325" "CACNA1H_000028" "g.1270349T>C" "" "" "" "CACNA1H(NM_021098.3):c.6417T>C (p.D2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220349T>C" "" "benign" "" "0000269576" "0" "30" "16" "1250520" "1250520" "subst" "6.952E-5" "02326" "CACNA1H_000066" "g.1250520C>T" "" "" "" "CACNA1H(NM_021098.3):c.1068C>T (p.N356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200520C>T" "" "likely benign" "" "0000269577" "0" "10" "16" "1250708" "1250708" "subst" "0.00875712" "02326" "CACNA1H_000067" "g.1250708C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1120-8C>T (p.(=)), CACNA1H(NM_021098.3):c.1120-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200708C>T" "" "benign" "" "0000269578" "0" "30" "16" "1250831" "1250831" "subst" "0.0152279" "02326" "CACNA1H_000068" "g.1250831G>A" "" "" "" "CACNA1H(NM_021098.3):c.1212+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200831G>A" "" "likely benign" "" "0000269579" "0" "30" "16" "1251760" "1251760" "subst" "0.000388812" "02326" "CACNA1H_000069" "g.1251760G>A" "" "" "" "CACNA1H(NM_021098.3):c.1310G>A (p.R437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1201760G>A" "" "likely benign" "" "0000269580" "0" "30" "16" "1252114" "1252114" "subst" "0.0109907" "02326" "CACNA1H_000071" "g.1252114C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1664C>T (p.(Ala555Val)), CACNA1H(NM_021098.3):c.1664C>T (p.A555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202114C>T" "" "likely benign" "" "0000269581" "0" "10" "16" "1252118" "1252118" "subst" "0.114244" "02326" "CACNA1H_000006" "g.1252118C>T" "" "" "" "CACNA1H(NM_021098.3):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202118C>T" "" "benign" "" "0000269582" "0" "30" "16" "1252274" "1252274" "subst" "0.00174436" "02326" "CACNA1H_000072" "g.1252274G>A" "" "" "" "CACNA1H(NM_021098.2):c.1824G>A (p.L608=), CACNA1H(NM_021098.3):c.1824G>A (p.L608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202274G>A" "" "likely benign" "" "0000269583" "0" "50" "16" "1252303" "1252303" "subst" "0.000534177" "02326" "CACNA1H_000073" "g.1252303C>T" "" "" "" "CACNA1H(NM_021098.2):c.1853C>T (p.(Pro618Leu)), CACNA1H(NM_021098.3):c.1853C>T (p.P618L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202303C>T" "" "VUS" "" "0000269584" "0" "10" "16" "1252416" "1252416" "subst" "0.00181691" "02326" "CACNA1H_000074" "g.1252416C>T" "" "" "" "CACNA1H(NM_021098.3):c.1966C>T (p.P656S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202416C>T" "" "benign" "" "0000269585" "0" "30" "16" "1252517" "1252517" "subst" "0" "02326" "CACNA1H_000075" "g.1252517G>T" "" "" "" "CACNA1H(NM_021098.3):c.2002+65G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1202517G>T" "" "likely benign" "" "0000269586" "0" "30" "16" "1254064" "1254064" "subst" "0.00101162" "02326" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204064C>T" "" "likely benign" "" "0000269587" "0" "30" "16" "1254262" "1254262" "subst" "6.03677E-5" "02326" "CACNA1H_000078" "g.1254262C>T" "" "" "" "CACNA1H(NM_021098.3):c.2255C>T (p.P752L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204262C>T" "" "likely benign" "" "0000269588" "0" "30" "16" "1254272" "1254272" "subst" "0.00498996" "02326" "CACNA1H_000079" "g.1254272C>T" "" "" "" "CACNA1H(NM_021098.3):c.2265C>T (p.G755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1204272C>T" "" "likely benign" "" "0000269589" "0" "10" "16" "1255083" "1255083" "subst" "0.0472057" "02326" "CACNA1H_000081" "g.1255083C>T" "" "" "" "CACNA1H(NM_021098.3):c.2452-31C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205083C>T" "" "benign" "" "0000269590" "0" "30" "16" "1255202" "1255202" "subst" "0.000195227" "02326" "CACNA1H_000082" "g.1255202G>T" "" "" "" "CACNA1H(NM_021098.3):c.2540G>T (p.C847F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205202G>T" "" "likely benign" "" "0000269591" "0" "30" "16" "1255374" "1255374" "subst" "0" "02326" "CACNA1H_000083" "g.1255374G>T" "" "" "" "CACNA1H(NM_021098.3):c.2603+109G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205374G>T" "" "likely benign" "" "0000269592" "0" "10" "16" "1255277" "1255277" "subst" "0.120321" "02326" "CACNA1H_000014" "g.1255277C>T" "" "" "" "CACNA1H(NM_021098.3):c.2603+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1205277C>T" "" "benign" "" "0000269593" "0" "30" "16" "1256016" "1256016" "subst" "0" "02326" "CACNA1H_000084" "g.1256016C>A" "" "" "" "CACNA1H(NM_021098.3):c.2604-88C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206016C>A" "" "likely benign" "" "0000269594" "0" "30" "16" "1256259" "1256259" "subst" "0.00219023" "02326" "CACNA1H_000085" "g.1256259C>T" "" "" "" "CACNA1H(NM_021098.3):c.2759C>T (p.T920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206259C>T" "" "likely benign" "" "0000269595" "0" "30" "16" "1256297" "1256297" "subst" "2.63165E-5" "02326" "CACNA1H_000086" "g.1256297C>A" "" "" "" "CACNA1H(NM_021098.3):c.2789+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1206297C>A" "" "likely benign" "" "0000269596" "0" "10" "16" "1257092" "1257092" "subst" "0.00476951" "02326" "CACNA1H_000087" "g.1257092C>T" "" "" "" "CACNA1H(NM_021098.3):c.2881C>T (p.L961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1207092C>T" "" "benign" "" "0000269597" "0" "10" "16" "1257334" "1257334" "subst" "0.00352494" "02326" "CACNA1H_000017" "g.1257334C>T" "" "" "" "CACNA1H(NM_021098.3):c.2967C>T (p.S989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1207334C>T" "" "benign" "" "0000269598" "0" "30" "16" "1204056" "1204076" "del" "0" "02326" "CACNA1H_000054" "g.1204056_1204076del" "" "" "" "CACNA1H(NM_021098.3):c.299+20_299+40delGGGGGCGGGGGGCGGGGGGCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1154056_1154076del" "" "likely benign" "" "0000269599" "0" "30" "16" "1258002" "1258002" "subst" "0.000101119" "02326" "CACNA1H_000088" "g.1258002C>G" "" "" "" "CACNA1H(NM_021098.3):c.3155-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208002C>G" "" "likely benign" "" "0000269600" "0" "30" "16" "1258033" "1258033" "subst" "0.00727032" "02326" "CACNA1H_000089" "g.1258033G>T" "" "" "" "CACNA1H(NM_001005407.1):c.3175G>T (p.(Ala1059Ser)), CACNA1H(NM_021098.3):c.3175G>T (p.A1059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208033G>T" "" "likely benign" "" "0000269601" "0" "30" "16" "1258189" "1258189" "subst" "0.0013258" "02326" "CACNA1H_000090" "g.1258189G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3331G>A (p.(Gly1111Arg)), CACNA1H(NM_021098.3):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208189G>A" "" "likely benign" "" "0000269602" "0" "30" "16" "1258920" "1258920" "subst" "0" "02326" "CACNA1H_000092" "g.1258920G>T" "" "" "" "CACNA1H(NM_021098.3):c.3364-112G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208920G>T" "" "likely benign" "" "0000269603" "0" "30" "16" "1258980" "1258980" "subst" "0" "02326" "CACNA1H_000093" "g.1258980G>A" "" "" "" "CACNA1H(NM_021098.3):c.3364-52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208980G>A" "" "likely benign" "" "0000269604" "0" "30" "16" "1259042" "1259042" "subst" "0" "02326" "CACNA1H_000094" "g.1259042G>A" "" "" "" "CACNA1H(NM_021098.3):c.3374G>A (p.R1125Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209042G>A" "" "likely benign" "" "0000269605" "0" "30" "16" "1259337" "1259337" "subst" "0.000965285" "02326" "CACNA1H_000098" "g.1259337C>T" "" "" "" "CACNA1H(NM_021098.3):c.3669C>T (p.A1223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209337C>T" "" "likely benign" "" "0000269606" "0" "30" "16" "1259406" "1259406" "subst" "0.011522" "02326" "CACNA1H_000099" "g.1259406G>A" "" "" "" "CACNA1H(NM_021098.3):c.3738G>A (p.S1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209406G>A" "" "likely benign" "" "0000269607" "0" "30" "16" "1259500" "1259500" "subst" "0" "02326" "CACNA1H_000100" "g.1259500G>C" "" "" "" "CACNA1H(NM_021098.3):c.3744+88G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209500G>C" "" "likely benign" "" "0000269608" "0" "30" "16" "1260360" "1260360" "subst" "0.231528" "02326" "CACNA1H_000102" "g.1260360G>C" "" "" "" "CACNA1H(NM_021098.3):c.3846-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210360G>C" "" "likely benign" "" "0000269609" "0" "30" "16" "1245057" "1245057" "subst" "0.000248661" "02326" "CACNA1H_000055" "g.1245057G>A" "" "" "" "CACNA1H(NM_021098.3):c.385G>A (p.G129S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195057G>A" "" "likely benign" "" "0000269610" "0" "10" "16" "1245062" "1245062" "subst" "0.00918654" "02326" "CACNA1H_000056" "g.1245062C>T" "" "" "" "CACNA1H(NM_021098.3):c.390C>T (p.S130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195062C>T" "" "benign" "" "0000269611" "0" "30" "16" "1260449" "1260449" "subst" "0.000485861" "02326" "CACNA1H_000103" "g.1260449G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3925G>A (p.(Val1309Ile)), CACNA1H(NM_021098.3):c.3925G>A (p.V1309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210449G>A" "" "likely benign" "" "0000269612" "0" "10" "16" "1260481" "1260481" "subst" "0.859784" "02326" "CACNA1H_000022" "g.1260481T>C" "" "" "" "CACNA1H(NM_021098.3):c.3957T>C (p.D1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210481T>C" "" "benign" "" "0000269613" "0" "30" "16" "1260783" "1260783" "subst" "0.00350518" "02326" "CACNA1H_000105" "g.1260783G>A" "" "" "" "CACNA1H(NM_021098.3):c.4039-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210783G>A" "" "likely benign" "" "0000269614" "0" "30" "16" "1245361" "1245361" "subst" "0" "02326" "CACNA1H_000057" "g.1245361C>T" "" "" "" "CACNA1H(NM_021098.3):c.412-71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195361C>T" "" "likely benign" "" "0000269615" "0" "30" "16" "1261063" "1261063" "subst" "0" "02326" "CACNA1H_000106" "g.1261063C>T" "" "" "" "CACNA1H(NM_021098.3):c.4223+92C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211063C>T" "" "likely benign" "" "0000269616" "0" "10" "16" "1261110" "1261110" "subst" "0" "02326" "CACNA1H_000107" "g.1261110C>T" "" "" "" "CACNA1H(NM_021098.3):c.4224-58C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211110C>T" "" "benign" "" "0000269617" "0" "30" "16" "1261162" "1261162" "subst" "0.00153927" "02326" "CACNA1H_000108" "g.1261162C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4224-6C>T (p.(=)), CACNA1H(NM_021098.3):c.4224-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211162C>T" "" "likely benign" "" "0000269618" "0" "30" "16" "1261300" "1261300" "subst" "2.44218E-5" "02326" "CACNA1H_000109" "g.1261300T>C" "" "" "" "CACNA1H(NM_021098.2):c.4350+6T>C (p.?), CACNA1H(NM_021098.3):c.4350+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211300T>C" "" "likely benign" "" "0000269619" "0" "30" "16" "1261921" "1261921" "subst" "0.000455134" "02326" "CACNA1H_000110" "g.1261921G>T" "" "" "" "CACNA1H(NM_021098.3):c.4567-25G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1211921G>T" "" "likely benign" "" "0000269620" "0" "30" "16" "1262120" "1262120" "subst" "0.000103598" "02326" "CACNA1H_000111" "g.1262120C>G" "" "" "" "CACNA1H(NM_021098.3):c.4741C>G (p.L1581V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1212120C>G" "" "likely benign" "" "0000269621" "0" "30" "16" "1263766" "1263766" "subst" "0.00185342" "02326" "CACNA1H_000112" "g.1263766C>T" "" "" "" "CACNA1H(NM_021098.3):c.4778-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213766C>T" "" "likely benign" "" "0000269622" "0" "30" "16" "1263775" "1263775" "subst" "0.00139128" "02326" "CACNA1H_000113" "g.1263775C>T" "" "" "" "CACNA1H(NM_021098.3):c.4778-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213775C>T" "" "likely benign" "" "0000269623" "0" "30" "16" "1263819" "1263819" "subst" "0.00502505" "02326" "CACNA1H_000114" "g.1263819C>T" "" "" "" "CACNA1H(NM_021098.3):c.4817C>T (p.T1606M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213819C>T" "" "likely benign" "" "0000269624" "0" "30" "16" "1245509" "1245509" "subst" "0.00493654" "02326" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195509G>C" "" "likely benign" "" "0000269625" "0" "30" "16" "1263949" "1263949" "subst" "0.00858217" "02326" "CACNA1H_000045" "g.1263949G>A" "" "" "" "CACNA1H(NM_021098.3):c.4929+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213949G>A" "" "likely benign" "" "0000269626" "0" "30" "16" "1263939" "1263939" "subst" "0.00427303" "02326" "CACNA1H_000116" "g.1263939C>T" "" "" "" "CACNA1H(NM_021098.3):c.4929+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213939C>T" "" "likely benign" "" "0000269627" "0" "30" "16" "1265152" "1265152" "subst" "0" "02326" "CACNA1H_000117" "g.1265152C>T" "" "" "" "CACNA1H(NM_021098.3):c.5039+71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215152C>T" "" "likely benign" "" "0000269628" "0" "10" "16" "1265412" "1265412" "subst" "0.0100396" "02326" "CACNA1H_000119" "g.1265412G>A" "" "" "" "CACNA1H(NM_021098.3):c.5173+37G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215412G>A" "" "benign" "" "0000269630" "0" "30" "16" "1267915" "1267915" "subst" "0.00114203" "02326" "CACNA1H_000121" "g.1267915G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5306-4G>A (p.?), CACNA1H(NM_021098.3):c.5324-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1217915G>A" "" "likely benign" "" "0000269631" "0" "10" "16" "1268044" "1268044" "subst" "0.00286798" "02326" "CACNA1H_000122" "g.1268044C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5427+4C>T (p.?), CACNA1H(NM_021098.3):c.5445+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218044C>T" "" "benign" "" "0000269632" "0" "30" "16" "1268046" "1268046" "subst" "8.13559E-5" "02326" "CACNA1H_000123" "g.1268046C>T" "" "" "" "CACNA1H(NM_021098.3):c.5445+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218046C>T" "" "likely benign" "" "0000269633" "0" "10" "16" "1245916" "1245916" "subst" "0.0123245" "02326" "CACNA1H_000060" "g.1245916C>T" "" "" "" "CACNA1H(NM_021098.3):c.546-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195916C>T" "" "benign" "" "0000269634" "0" "30" "16" "1245879" "1245879" "subst" "0.000783977" "02326" "CACNA1H_000059" "g.1245879C>T" "" "" "" "CACNA1H(NM_021098.3):c.546-47C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195879C>T" "" "likely benign" "" "0000269635" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "02326" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218257C>T" "" "benign" "" "0000269636" "0" "10" "16" "1268376" "1268376" "subst" "0.0548607" "02326" "CACNA1H_000030" "g.1268376G>A" "" "" "" "CACNA1H(NM_021098.3):c.5612G>A (p.R1871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218376G>A" "" "benign" "" "0000269637" "0" "10" "16" "1268979" "1268979" "subst" "0.0169781" "02326" "CACNA1H_000033" "g.1268979C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5879C>T (p.(Ala1960Val)), CACNA1H(NM_021098.3):c.5897C>T (p.A1966V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218979C>T" "" "benign" "" "0000269638" "0" "10" "16" "1269029" "1269029" "subst" "0.651346" "02326" "CACNA1H_000034" "g.1269029T>C" "" "" "" "CACNA1H(NM_021098.3):c.5947T>C (p.L1983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219029T>C" "" "benign" "" "0000269639" "0" "30" "16" "1269071" "1269071" "subst" "0.000702372" "02326" "CACNA1H_000126" "g.1269071G>A" "" "" "" "CACNA1H(NM_021098.3):c.5989G>A (p.A1997T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219071G>A" "" "likely benign" "" "0000269640" "0" "10" "16" "1269095" "1269095" "subst" "0.0566159" "02326" "CACNA1H_000035" "g.1269095C>T" "" "" "" "CACNA1H(NM_021098.3):c.6013C>T (p.R2005C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219095C>T" "" "benign" "" "0000269641" "0" "30" "16" "1269142" "1269142" "subst" "0.00110426" "02326" "CACNA1H_000127" "g.1269142C>T" "" "" "" "CACNA1H(NM_021098.3):c.6048+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219142C>T" "" "likely benign" "" "0000269642" "0" "10" "16" "1269143" "1269143" "subst" "0.0315001" "02326" "CACNA1H_000128" "g.1269143G>A" "" "" "" "CACNA1H(NM_021098.3):c.6048+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1219143G>A" "" "benign" "" "0000269643" "0" "10" "16" "1270111" "1270111" "subst" "0.108204" "02326" "CACNA1H_000026" "g.1270111G>A" "" "" "" "CACNA1H(NM_021098.3):c.6179G>A (p.R2060H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220111G>A" "" "benign" "" "0000269644" "0" "30" "16" "1270127" "1270127" "subst" "0.00202697" "02326" "CACNA1H_000130" "g.1270127C>T" "" "" "" "CACNA1H(NM_021098.2):c.6195C>T (p.A2065=), CACNA1H(NM_021098.3):c.6195C>T (p.A2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220127C>T" "" "likely benign" "" "0000269645" "0" "10" "16" "1270162" "1270162" "subst" "0.656134" "02326" "CACNA1H_000027" "g.1270162G>A" "" "" "" "CACNA1H(NM_021098.3):c.6230G>A (p.R2077H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220162G>A" "" "benign" "" "0000269646" "0" "30" "16" "1270254" "1270254" "subst" "0.00147123" "02326" "CACNA1H_000131" "g.1270254G>A" "" "" "" "CACNA1H(NM_021098.3):c.6322G>A (p.A2108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220254G>A" "" "likely benign" "" "0000269647" "0" "10" "16" "1270349" "1270349" "subst" "0.857613" "02326" "CACNA1H_000028" "g.1270349T>C" "" "" "" "CACNA1H(NM_021098.3):c.6417T>C (p.D2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220349T>C" "" "benign" "" "0000269648" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "02326" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220350G>A" "" "likely benign" "" "0000269649" "0" "10" "16" "1246034" "1246034" "subst" "0.00111237" "02326" "CACNA1H_000061" "g.1246034G>A" "" "" "" "CACNA1H(NM_021098.3):c.643+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1196034G>A" "" "benign" "" "0000269650" "0" "30" "16" "1270477" "1270477" "subst" "0.000163378" "02326" "CACNA1H_000132" "g.1270477G>A" "" "" "" "CACNA1H(NM_021098.3):c.6545G>A (p.R2182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220477G>A" "" "likely benign" "" "0000269651" "0" "30" "16" "1270585" "1270585" "subst" "0.00153116" "02326" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1220585G>A" "" "likely benign" "" "0000269652" "0" "30" "16" "1250271" "1250271" "subst" "0.00141748" "02326" "CACNA1H_000063" "g.1250271C>T" "" "" "" "CACNA1H(NM_021098.3):c.819C>T (p.(Thr273=), p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200271C>T" "" "likely benign" "" "0000269653" "0" "30" "16" "1250440" "1250440" "subst" "3.70892E-5" "02326" "CACNA1H_000064" "g.1250440G>A" "" "" "" "CACNA1H(NM_021098.2):c.988G>A (p.V330M), CACNA1H(NM_021098.3):c.988G>A (p.V330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200440G>A" "" "likely benign" "" "0000269654" "0" "10" "16" "1250446" "1250446" "subst" "0.0167807" "02326" "CACNA1H_000065" "g.1250446G>A" "" "" "" "CACNA1H(NM_001005407.1):c.994G>A (p.(Ala332Thr)), CACNA1H(NM_021098.3):c.994G>A (p.A332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1200446G>A" "" "benign" "" "0000272515" "0" "50" "16" "1259051" "1259051" "subst" "0" "01943" "CACNA1H_000095" "g.1259051C>T" "" "" "" "CACNA1H(NM_021098.2):c.3383C>T (p.P1128L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209051C>T" "" "VUS" "" "0000272516" "0" "30" "16" "1259247" "1259247" "subst" "0" "01943" "CACNA1H_000096" "g.1259247G>T" "" "" "" "CACNA1H(NM_021098.2):c.3579G>T (p.L1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209247G>T" "" "likely benign" "" "0000316993" "0" "30" "16" "1272769" "1272769" "subst" "2.44706E-5" "01943" "TPSG1_000001" "g.1272769T>G" "" "" "" "TPSG1(NM_012467.3):c.394A>C (p.S132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1222769T>G" "" "likely benign" "" "0000324403" "0" "50" "16" "1251945" "1251945" "subst" "0.00180268" "01804" "CACNA1H_000070" "g.1251945G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1495G>A (p.(Gly499Ser)), CACNA1H(NM_021098.3):c.1495G>A (p.G499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1201945G>A" "" "VUS" "" "0000324404" "0" "50" "16" "1258220" "1258220" "subst" "0.000347361" "01804" "CACNA1H_000091" "g.1258220C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3362C>T (p.?), CACNA1H(NM_021098.2):c.3362C>T (p.P1121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1208220C>T" "" "VUS" "" "0000324405" "0" "50" "16" "1260048" "1260048" "subst" "6.05441E-5" "01804" "CACNA1H_000101" "g.1260048G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3758G>A (p.(Arg1253His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210048G>A" "" "VUS" "" "0000324406" "0" "50" "16" "1260620" "1260620" "subst" "8.29442E-6" "01804" "CACNA1H_000104" "g.1260620C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4007C>T (p.(Thr1336Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1210620C>T" "" "VUS" "" "0000324407" "0" "50" "16" "1263883" "1263883" "subst" "0" "01804" "CACNA1H_000115" "g.1263883C>G" "" "" "" "CACNA1H(NM_001005407.1):c.4863C>G (p.(Ile1621Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1213883C>G" "" "VUS" "" "0000324408" "0" "10" "16" "1265315" "1265315" "subst" "0.00551305" "01804" "CACNA1H_000118" "g.1265315G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5095G>A (p.(Ala1699Thr)), CACNA1H(NM_021098.3):c.5113G>A (p.A1705T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1215315G>A" "" "benign" "" "0000324409" "0" "30" "16" "1268451" "1268451" "subst" "2.64281E-5" "01804" "CACNA1H_000125" "g.1268451C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5669C>T (p.(Ala1890Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1218451C>T" "" "likely benign" "" "0000339002" "0" "30" "16" "1259249" "1259249" "subst" "5.16803E-5" "02327" "CACNA1H_000137" "g.1259249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1209249G>A" "" "likely benign" "" "0000348813" "0" "50" "16" "1245967" "1245967" "subst" "0" "02327" "CACNA1H_000135" "g.1245967C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1195967C>T" "" "VUS" "" "0000406010" "11" "50" "16" "1265066" "1265066" "subst" "0.000107557" "02552" "CACNA1H_000139" "g.1265066G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs149367557" "0" "" "" "g.1215066G>A" "" "VUS" "" "0000442484" "0" "50" "16" "1260047" "1260047" "subst" "0.000134844" "01164" "CACNA1H_000140" "g.1260047C>T" "" "" "" "" "" "Germline" "" "rs372000875" "0" "" "" "g.1210047C>T" "" "VUS" "ACMG" "0000556506" "0" "30" "16" "1245101" "1245123" "del" "0" "01804" "TPSG1_000007" "g.1245101_1245123del" "" "" "" "CACNA1H(NM_001005407.1):c.411+8_411+30del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195101_1195123del" "" "likely benign" "" "0000556507" "0" "30" "16" "1245474" "1245474" "subst" "0" "01804" "TPSG1_000008" "g.1245474G>A" "" "" "" "CACNA1H(NM_001005407.1):c.454G>A (p.(Val152Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195474G>A" "" "likely benign" "" "0000556508" "0" "30" "16" "1245509" "1245509" "subst" "0.00493654" "01804" "CACNA1H_000058" "g.1245509G>C" "" "" "" "CACNA1H(NM_001005407.1):c.489G>C (p.(Gln163His)), CACNA1H(NM_021098.3):c.489G>C (p.Q163H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1195509G>C" "" "likely benign" "" "0000556509" "0" "50" "16" "1248692" "1248692" "subst" "4.87793E-5" "02325" "TPSG1_000009" "g.1248692T>G" "" "" "" "CACNA1H(NM_021098.3):c.721T>G (p.F241V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1198692T>G" "" "VUS" "" "0000556510" "0" "30" "16" "1250279" "1250279" "subst" "0.000691928" "01804" "TPSG1_000010" "g.1250279G>A" "" "" "" "CACNA1H(NM_001005407.1):c.827G>A (p.(Arg276Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200279G>A" "" "likely benign" "" "0000556511" "0" "30" "16" "1250440" "1250440" "subst" "3.70892E-5" "01943" "CACNA1H_000064" "g.1250440G>A" "" "" "" "CACNA1H(NM_021098.2):c.988G>A (p.V330M), CACNA1H(NM_021098.3):c.988G>A (p.V330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200440G>A" "" "likely benign" "" "0000556512" "0" "30" "16" "1250445" "1250445" "subst" "7.40814E-5" "01943" "TPSG1_000011" "g.1250445C>A" "" "" "" "CACNA1H(NM_021098.2):c.993C>A (p.G331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200445C>A" "" "likely benign" "" "0000556513" "0" "30" "16" "1250446" "1250446" "subst" "0.0167807" "01804" "CACNA1H_000065" "g.1250446G>A" "" "" "" "CACNA1H(NM_001005407.1):c.994G>A (p.(Ala332Thr)), CACNA1H(NM_021098.3):c.994G>A (p.A332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200446G>A" "" "likely benign" "" "0000556514" "0" "30" "16" "1250708" "1250708" "subst" "0.00875712" "01804" "CACNA1H_000067" "g.1250708C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1120-8C>T (p.(=)), CACNA1H(NM_021098.3):c.1120-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200708C>T" "" "likely benign" "" "0000556515" "0" "30" "16" "1251788" "1251788" "subst" "1.38764E-5" "01943" "TPSG1_000012" "g.1251788G>A" "" "" "" "CACNA1H(NM_021098.2):c.1338G>A (p.T446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201788G>A" "" "likely benign" "" "0000556516" "0" "10" "16" "1251803" "1251803" "subst" "0.117238" "02326" "CACNA1H_000005" "g.1251803C>T" "" "" "" "CACNA1H(NM_021098.3):c.1353C>T (p.S451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201803C>T" "" "benign" "" "0000556518" "0" "10" "16" "1251963" "1251963" "subst" "0.00144471" "01943" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201963C>T" "" "benign" "" "0000556519" "0" "30" "16" "1251963" "1251963" "subst" "0.00144471" "01804" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201963C>T" "" "likely benign" "" "0000556520" "0" "30" "16" "1252068" "1252068" "subst" "0" "01804" "TPSG1_000015" "g.1252068G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1618G>A (p.(Gly540Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202068G>A" "" "likely benign" "" "0000556521" "0" "30" "16" "1252114" "1252114" "subst" "0.0109907" "01804" "CACNA1H_000071" "g.1252114C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1664C>T (p.(Ala555Val)), CACNA1H(NM_021098.3):c.1664C>T (p.A555V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202114C>T" "" "likely benign" "" "0000556522" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02325" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202369C>T" "" "benign" "" "0000556523" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02326" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202369C>T" "" "benign" "" "0000556525" "0" "50" "16" "1254064" "1254064" "subst" "0.00101162" "01943" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204064C>T" "" "VUS" "" "0000556526" "0" "30" "16" "1254064" "1254064" "subst" "0.00101162" "01804" "CACNA1H_000076" "g.1254064C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2057C>T (p.(Pro686Leu)), CACNA1H(NM_021098.2):c.2057C>T (p.P686L), CACNA1H(NM_021098.3):c.2057C>T (p.P686L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204064C>T" "" "likely benign" "" "0000556527" "0" "30" "16" "1254349" "1254349" "subst" "8.65809E-5" "01804" "TPSG1_000016" "g.1254349C>T" "" "" "" "CACNA1H(NM_001005407.1):c.2342C>T (p.(Thr781Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204349C>T" "" "likely benign" "" "0000556528" "0" "30" "16" "1254361" "1254361" "subst" "0.00358092" "01804" "CACNA1H_000080" "g.1254361A>T" "" "" "" "CACNA1H(NM_001005407.1):c.2354A>T (p.(Lys785Met)), CACNA1H(NM_021098.3):c.2354A>T (p.K785M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1204361A>T" "" "likely benign" "" "0000556531" "0" "30" "16" "1255249" "1255249" "subst" "4.08477E-6" "01943" "TPSG1_000019" "g.1255249A>T" "" "" "" "CACNA1H(NM_021098.2):c.2587A>T (p.I863F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1205249A>T" "" "likely benign" "" "0000556532" "0" "50" "16" "1256151" "1256151" "subst" "0" "01804" "TPSG1_000020" "g.1256151G>A" "" "" "" "CACNA1H(NM_001005407.1):c.2651G>A (p.(Arg884His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1206151G>A" "" "VUS" "" "0000556533" "0" "30" "16" "1256216" "1256216" "subst" "4.27765E-5" "01943" "TPSG1_000021" "g.1256216G>A" "" "" "" "CACNA1H(NM_021098.2):c.2716G>A (p.V906M), CACNA1H(NM_021098.3):c.2716G>A (p.(Val906Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1206216G>A" "" "likely benign" "" "0000556536" "0" "30" "16" "1257299" "1257299" "subst" "2.50388E-5" "01804" "TPSG1_000023" "g.1257299G>A" "" "" "" "CACNA1H(NM_001005407.1):c.2932G>A (p.(Val978Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207299G>A" "" "likely benign" "" "0000556537" "0" "30" "16" "1257313" "1257313" "subst" "8.31864E-6" "01943" "TPSG1_000024" "g.1257313C>T" "" "" "" "CACNA1H(NM_021098.2):c.2946C>T (p.N982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207313C>T" "" "likely benign" "" "0000556538" "0" "10" "16" "1257591" "1257591" "subst" "0" "02326" "TPSG1_000025" "g.1257591G>A" "" "" "" "CACNA1H(NM_021098.3):c.3063+161G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207591G>A" "" "benign" "" "0000556539" "0" "30" "16" "1258021" "1258021" "subst" "0.000169136" "01804" "TPSG1_000026" "g.1258021A>G" "" "" "" "CACNA1H(NM_001005407.1):c.3163A>G (p.(Met1055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208021A>G" "" "likely benign" "" "0000556540" "0" "30" "16" "1258033" "1258033" "subst" "0.00727032" "01804" "CACNA1H_000089" "g.1258033G>T" "" "" "" "CACNA1H(NM_001005407.1):c.3175G>T (p.(Ala1059Ser)), CACNA1H(NM_021098.3):c.3175G>T (p.A1059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208033G>T" "" "likely benign" "" "0000556541" "0" "30" "16" "1258064" "1258064" "subst" "0.00126441" "01804" "TPSG1_000027" "g.1258064G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3206G>A (p.(Arg1069Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208064G>A" "" "likely benign" "" "0000556542" "0" "30" "16" "1258149" "1258149" "subst" "2.11544E-5" "01943" "TPSG1_000028" "g.1258149C>T" "" "" "" "CACNA1H(NM_021098.2):c.3291C>T (p.A1097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208149C>T" "" "likely benign" "" "0000556543" "0" "30" "16" "1258189" "1258189" "subst" "0.0013258" "01804" "CACNA1H_000090" "g.1258189G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3331G>A (p.(Gly1111Arg)), CACNA1H(NM_021098.3):c.3331G>A (p.G1111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208189G>A" "" "likely benign" "" "0000556544" "0" "30" "16" "1258220" "1258220" "subst" "0.000347361" "01943" "CACNA1H_000091" "g.1258220C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3362C>T (p.?), CACNA1H(NM_021098.2):c.3362C>T (p.P1121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1208220C>T" "" "likely benign" "" "0000556546" "0" "50" "16" "1259251" "1259251" "subst" "6.6402E-5" "01943" "TPSG1_000030" "g.1259251C>T" "" "" "" "CACNA1H(NM_021098.2):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209251C>T" "" "VUS" "" "0000556547" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "01943" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209257G>A" "" "likely benign" "" "0000556548" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "01804" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209257G>A" "" "likely benign" "" "0000556549" "0" "50" "16" "1259272" "1259272" "subst" "3.36895E-5" "01804" "TPSG1_000031" "g.1259272C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3604C>T (p.(Arg1202Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209272C>T" "" "VUS" "" "0000556550" "0" "30" "16" "1259282" "1259282" "subst" "0.000234451" "01804" "TPSG1_000032" "g.1259282G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3614G>A (p.(Arg1205Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209282G>A" "" "likely benign" "" "0000556551" "0" "50" "16" "1259410" "1259410" "subst" "4.38243E-5" "01804" "TPSG1_000033" "g.1259410G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3742G>A (p.(Asp1248Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209410G>A" "" "VUS" "" "0000556552" "0" "50" "16" "1260047" "1260047" "subst" "0.000134844" "01943" "CACNA1H_000140" "g.1260047C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3757C>T (p.(Arg1253Cys)), CACNA1H(NM_021098.2):c.3757C>T (p.R1253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210047C>T" "" "VUS" "" "0000556553" "0" "30" "16" "1260082" "1260082" "subst" "0.000669668" "01943" "TPSG1_000034" "g.1260082G>T" "" "" "" "CACNA1H(NM_021098.2):c.3792G>T (p.Q1264H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210082G>T" "" "likely benign" "" "0000556554" "0" "30" "16" "1260354" "1260354" "subst" "0.269204" "02326" "TPSG1_000035" "g.1260354G>C" "" "" "" "CACNA1H(NM_021098.3):c.3846-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210354G>C" "" "likely benign" "" "0000556555" "0" "30" "16" "1260364" "1260364" "subst" "0.134213" "01804" "CACNA1H_000138" "g.1260364A>C" "" "" "" "CACNA1H(NM_001005407.1):c.3846-6A>C (p.(=)), CACNA1H(NM_021098.3):c.3846-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210364A>C" "" "likely benign" "" "0000556556" "0" "30" "16" "1260368" "1260372" "del" "0" "01804" "TPSG1_000036" "g.1260368_1260372del" "" "" "" "CACNA1H(NM_001005407.1):c.3846-2_3848del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210368_1210372del" "" "likely benign" "" "0000556557" "0" "30" "16" "1260449" "1260449" "subst" "0.000485861" "01804" "CACNA1H_000103" "g.1260449G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3925G>A (p.(Val1309Ile)), CACNA1H(NM_021098.3):c.3925G>A (p.V1309I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210449G>A" "" "likely benign" "" "0000556558" "0" "30" "16" "1260673" "1260673" "subst" "0.00355031" "02326" "TPSG1_000037" "g.1260673G>A" "" "" "" "CACNA1H(NM_021098.3):c.4038+22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210673G>A" "" "likely benign" "" "0000556560" "0" "30" "16" "1261162" "1261162" "subst" "0.00153927" "01804" "CACNA1H_000108" "g.1261162C>T" "" "" "" "CACNA1H(NM_001005407.1):c.4224-6C>T (p.(=)), CACNA1H(NM_021098.3):c.4224-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1211162C>T" "" "likely benign" "" "0000556561" "0" "30" "16" "1262000" "1262000" "subst" "7.72075E-5" "01804" "TPSG1_000038" "g.1262000A>G" "" "" "" "CACNA1H(NM_001005407.1):c.4621A>G (p.(Ile1541Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1212000A>G" "" "likely benign" "" "0000556563" "0" "30" "16" "1264974" "1264974" "subst" "0.0011417" "01804" "TPSG1_000039" "g.1264974G>A" "" "" "" "CACNA1H(NM_001005407.1):c.4914G>A (p.(=)), CACNA1H(NM_021098.3):c.4932G>A (p.S1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1214974G>A" "" "likely benign" "" "0000556564" "0" "30" "16" "1265315" "1265315" "subst" "0.00551305" "02326" "CACNA1H_000118" "g.1265315G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5095G>A (p.(Ala1699Thr)), CACNA1H(NM_021098.3):c.5113G>A (p.A1705T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1215315G>A" "" "likely benign" "" "0000556565" "0" "10" "16" "1266803" "1266804" "ins" "0" "02326" "TPSG1_000040" "g.1266803_1266804insT" "" "" "" "CACNA1H(NM_021098.3):c.5245-129_5245-128insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1216803_1216804insT" "" "benign" "" "0000556566" "0" "30" "16" "1267915" "1267915" "subst" "0.00114203" "01804" "CACNA1H_000121" "g.1267915G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5306-4G>A (p.?), CACNA1H(NM_021098.3):c.5324-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1217915G>A" "" "likely benign" "" "0000556567" "0" "30" "16" "1268044" "1268044" "subst" "0.00286798" "01804" "CACNA1H_000122" "g.1268044C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5427+4C>T (p.?), CACNA1H(NM_021098.3):c.5445+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218044C>T" "" "likely benign" "" "0000556568" "0" "10" "16" "1268257" "1268257" "subst" "0.00572238" "01943" "CACNA1H_000124" "g.1268257C>T" "" "" "" "CACNA1H(NM_021098.2):c.5493C>T (p.Y1831=), CACNA1H(NM_021098.3):c.5493C>T (p.Y1831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218257C>T" "" "benign" "" "0000556569" "0" "50" "16" "1268337" "1268337" "subst" "0" "01804" "TPSG1_000041" "g.1268337T>C" "" "" "" "CACNA1H(NM_021098.2):c.5573T>C (p.(Val1858Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218337T>C" "" "VUS" "" "0000556572" "0" "30" "16" "1268428" "1268428" "subst" "4.56216E-5" "01943" "TPSG1_000043" "g.1268428C>T" "" "" "" "CACNA1H(NM_021098.2):c.5664C>T (p.P1888=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218428C>T" "" "likely benign" "" "0000556574" "0" "30" "16" "1268979" "1268979" "subst" "0.0169781" "01804" "CACNA1H_000033" "g.1268979C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5879C>T (p.(Ala1960Val)), CACNA1H(NM_021098.3):c.5897C>T (p.A1966V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218979C>T" "" "likely benign" "" "0000556577" "0" "30" "16" "1270328" "1270328" "subst" "0" "01943" "TPSG1_000046" "g.1270328G>A" "" "" "" "CACNA1H(NM_021098.2):c.6396G>A (p.L2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220328G>A" "" "likely benign" "" "0000556578" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "01804" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220350G>A" "" "likely benign" "" "0000556579" "0" "30" "16" "1270426" "1270426" "subst" "1.87728E-5" "01943" "TPSG1_000047" "g.1270426C>G" "" "" "" "CACNA1H(NM_021098.2):c.6494C>G (p.P2165R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220426C>G" "" "likely benign" "" "0000556580" "0" "30" "16" "1270463" "1270463" "subst" "0.000169895" "01943" "TPSG1_000048" "g.1270463C>T" "" "" "" "CACNA1H(NM_021098.2):c.6531C>T (p.P2177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220463C>T" "" "likely benign" "" "0000556581" "0" "30" "16" "1270554" "1270554" "subst" "0.000605914" "01804" "TPSG1_000049" "g.1270554G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6604G>A (p.(Ala2202Thr)), CACNA1H(NM_021098.2):c.6622G>A (p.A2208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220554G>A" "" "likely benign" "" "0000556582" "0" "50" "16" "1270585" "1270585" "subst" "0.00153116" "01943" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220585G>A" "" "VUS" "" "0000556583" "0" "30" "16" "1270585" "1270585" "subst" "0.00153116" "01804" "CACNA1H_000134" "g.1270585G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6635G>A (p.(Arg2212His)), CACNA1H(NM_021098.2):c.6653G>A (p.R2218H), CACNA1H(NM_021098.3):c.6653G>A (p.R2218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220585G>A" "" "likely benign" "" "0000556584" "0" "30" "16" "1270780" "1270780" "subst" "0.00039065" "01804" "TPSG1_000050" "g.1270780A>T" "" "" "" "CACNA1H(NM_001005407.1):c.6830A>T (p.(Asp2277Val)), CACNA1H(NM_021098.3):c.6848A>T (p.D2283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220780A>T" "" "likely benign" "" "0000556585" "0" "30" "16" "1270800" "1270800" "subst" "0" "01804" "TPSG1_000051" "g.1270800C>G" "" "" "" "CACNA1H(NM_001005407.1):c.6850C>G (p.(Pro2284Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220800C>G" "" "likely benign" "" "0000556587" "0" "30" "16" "1273424" "1273424" "subst" "0.000668351" "01804" "TPSB2_000002" "g.1273424C>T" "" "" "" "TPSG1(NM_012467.3):c.244G>A (p.(Gly82Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1223424C>T" "" "likely benign" "" "0000556588" "0" "30" "16" "1278902" "1278902" "subst" "0.0741539" "01804" "TPSB2_000003" "g.1278902G>T" "" "" "" "TPSB2(NM_024164.5):c.662C>A (p.(Pro221Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228902G>T" "" "likely benign" "" "0000556589" "0" "30" "16" "1278906" "1278906" "subst" "0.0749163" "01804" "TPSB2_000004" "g.1278906T>G" "" "" "" "TPSB2(NM_024164.5):c.658A>C (p.(Met220Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228906T>G" "" "likely benign" "" "0000556591" "0" "30" "16" "1278919" "1278919" "subst" "0.0754969" "01804" "TPSB2_000006" "g.1278919G>C" "" "" "" "TPSB2(NM_024164.5):c.645C>G (p.(His215Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1228919G>C" "" "likely benign" "" "0000615683" "0" "30" "16" "1250778" "1250778" "subst" "0" "01943" "TPSG1_000055" "g.1250778C>T" "" "" "" "CACNA1H(NM_021098.2):c.1182C>T (p.Y394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200778C>T" "" "likely benign" "" "0000615684" "0" "50" "16" "1251750" "1251750" "subst" "8.47328E-6" "02327" "TPSG1_000056" "g.1251750C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201750C>T" "" "VUS" "" "0000615685" "0" "30" "16" "1251998" "1251998" "subst" "0" "01943" "TPSG1_000057" "g.1251998C>G" "" "" "" "CACNA1H(NM_021098.2):c.1548C>G (p.H516Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1201998C>G" "" "likely benign" "" "0000615686" "0" "30" "16" "1252112" "1252112" "subst" "2.24527E-5" "01943" "TPSG1_000058" "g.1252112C>T" "" "" "" "CACNA1H(NM_021098.2):c.1662C>T (p.G554=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202112C>T" "" "likely benign" "" "0000615687" "0" "50" "16" "1255132" "1255132" "subst" "0" "02325" "TPSG1_000060" "g.1255132G>A" "" "" "" "CACNA1H(NM_021098.3):c.2470G>A (p.A824T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1205132G>A" "" "VUS" "" "0000615688" "0" "30" "16" "1257787" "1257787" "subst" "1.79469E-5" "01943" "TPSG1_000062" "g.1257787C>G" "" "" "" "CACNA1H(NM_021098.2):c.3081C>G (p.S1027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207787C>G" "" "likely benign" "" "0000615689" "0" "30" "16" "1259269" "1259269" "subst" "1.34765E-5" "01804" "TPSG1_000063" "g.1259269C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3601C>T (p.(Pro1201Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1209269C>T" "" "likely benign" "" "0000615690" "0" "30" "16" "1260795" "1260795" "subst" "0" "01943" "TPSG1_000064" "g.1260795C>T" "" "" "" "CACNA1H(NM_021098.2):c.4047C>T (p.A1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1210795C>T" "" "likely benign" "" "0000615691" "0" "30" "16" "1267973" "1267973" "subst" "0.00121599" "01804" "TPSG1_000065" "g.1267973A>G" "" "" "" "CACNA1H(NM_001005407.1):c.5360A>G (p.(Asn1787Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1217973A>G" "" "likely benign" "" "0000615692" "0" "30" "16" "1268513" "1268513" "subst" "0.00110994" "01804" "TPSG1_000066" "g.1268513C>T" "" "" "" "CACNA1H(NM_001005407.1):c.5731C>T (p.(Arg1911Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1218513C>T" "" "likely benign" "" "0000615693" "0" "30" "16" "1270167" "1270167" "subst" "8.63462E-5" "01943" "TPSG1_000067" "g.1270167G>A" "" "" "" "CACNA1H(NM_021098.2):c.6235G>A (p.V2079I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220167G>A" "" "likely benign" "" "0000615694" "0" "30" "16" "1270350" "1270350" "subst" "0.00256625" "01943" "CACNA1H_000029" "g.1270350G>A" "" "" "" "CACNA1H(NM_021098.2):c.6418G>A (p.A2140T), CACNA1H(NM_021098.3):c.6418G>A (p.(Ala2140Thr), p.A2140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220350G>A" "" "likely benign" "" "0000615695" "0" "30" "16" "1270554" "1270554" "subst" "0.000605914" "01943" "TPSG1_000049" "g.1270554G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6604G>A (p.(Ala2202Thr)), CACNA1H(NM_021098.2):c.6622G>A (p.A2208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220554G>A" "" "likely benign" "" "0000623362" "0" "30" "16" "1248772" "1248772" "subst" "2.92407E-5" "01943" "TPSG1_000053" "g.1248772C>T" "" "" "" "CACNA1H(NM_021098.2):c.801C>T (p.V267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1198772C>T" "" "likely benign" "" "0000623363" "0" "30" "16" "1250481" "1250481" "subst" "6.9474E-5" "01943" "TPSG1_000054" "g.1250481C>T" "" "" "" "CACNA1H(NM_021098.2):c.1029C>T (p.Y343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1200481C>T" "" "likely benign" "" "0000623364" "0" "30" "16" "1252152" "1252152" "subst" "0.00194218" "01943" "TPSG1_000059" "g.1252152G>A" "" "" "" "CACNA1H(NM_021098.2):c.1702G>A (p.D568N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202152G>A" "" "likely benign" "" "0000623365" "0" "30" "16" "1252274" "1252274" "subst" "0.00174436" "01943" "CACNA1H_000072" "g.1252274G>A" "" "" "" "CACNA1H(NM_021098.2):c.1824G>A (p.L608=), CACNA1H(NM_021098.3):c.1824G>A (p.L608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1202274G>A" "" "likely benign" "" "0000623366" "0" "30" "16" "1257409" "1257409" "subst" "1.22249E-5" "01943" "TPSG1_000061" "g.1257409C>T" "" "" "" "CACNA1H(NM_021098.2):c.3042C>T (p.L1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1207409C>T" "" "likely benign" "" "0000623367" "0" "30" "16" "1270649" "1270649" "subst" "0.00117055" "01943" "TPSG1_000068" "g.1270649C>T" "" "" "" "CACNA1H(NM_021098.2):c.6717C>T (p.G2239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1220649C>T" "" "likely benign" "" "0000649212" "1" "10" "16" "1245518" "1245518" "subst" "0.00614132" "03575" "CACNA1H_000141" "g.1245518C>T" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININrs58142268}" "Germline" "" "rs58142268" "0" "" "" "g.1195518C>T" "" "benign" "" "0000649213" "1" "50" "16" "1250378" "1250378" "subst" "4.88351E-5" "03575" "CACNA1H_000142" "g.1250378G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs201651793}" "Germline" "" "rs201651793" "0" "" "" "g.1200378G>A" "" "VUS" "" "0000649214" "1" "10" "16" "1250446" "1250446" "subst" "0.0167807" "03575" "CACNA1H_000065" "g.1250446G>A" "140/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "140 heterozygous; {DB:CLININrs59650398}" "Germline" "" "rs59650398" "0" "" "" "g.1200446G>A" "" "benign" "" "0000649215" "1" "10" "16" "1250708" "1250708" "subst" "0.00875712" "03575" "CACNA1H_000067" "g.1250708C>T" "38/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "38 heterozygous, no homozygous; {DB:CLININrs59091981}" "Germline" "" "rs59091981" "0" "" "" "g.1200708C>T" "" "benign" "" "0000649216" "1" "50" "16" "1252303" "1252303" "subst" "0.000534177" "03575" "CACNA1H_000073" "g.1252303C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs60734921}" "Germline" "" "rs60734921" "0" "" "" "g.1202303C>T" "" "VUS" "" "0000649217" "1" "10" "16" "1254037" "1254037" "subst" "0.0011428" "03575" "CACNA1H_000143" "g.1254037C>T" "6/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs181892888}" "Germline" "" "rs181892888" "0" "" "" "g.1204037C>T" "" "benign" "" "0000649218" "1" "30" "16" "1254064" "1254064" "subst" "0.00101162" "03575" "CACNA1H_000076" "g.1254064C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs145376050}" "Germline" "" "rs145376050" "0" "" "" "g.1204064C>T" "" "likely benign" "" "0000649219" "1" "30" "16" "1258064" "1258064" "subst" "0.00126441" "03575" "TPSG1_000027" "g.1258064G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs57633676}" "Germline" "" "rs57633676" "0" "" "" "g.1208064G>A" "" "likely benign" "" "0000649220" "1" "50" "16" "1265066" "1265066" "subst" "0.000107557" "03575" "CACNA1H_000139" "g.1265066G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149367557}" "Germline" "" "rs149367557" "0" "" "" "g.1215066G>A" "" "VUS" "" "0000659692" "0" "50" "16" "1269120" "1269120" "subst" "1.44967E-5" "01164" "CACNA1H_000144" "g.1269120T>C" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "" "0" "" "" "g.1219120T>C" "" "VUS" "ACMG" "0000660267" "0" "50" "16" "1263791" "1263791" "subst" "2.40729E-5" "01164" "CACNA1H_000145" "g.1263791C>T" "" "" "" "" "" "Germline" "" "rs747598216" "0" "" "" "g.1213791C>T" "" "VUS" "" "0000669307" "3" "10" "16" "1250446" "1250446" "subst" "0.0167807" "03575" "CACNA1H_000065" "g.1250446G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs59650398}" "Germline" "" "rs59650398" "0" "" "" "g.1200446G>A" "" "benign" "" "0000673638" "0" "50" "16" "1258169" "1258169" "subst" "2.42651E-5" "00006" "CACNA1H_000146" "g.1258169G>A" "" "{PMID:Marcogliese 2018:30057031}" "" "" "" "Germline" "" "" "0" "" "" "g.1208169G>A" "" "VUS" "" "0000680382" "0" "50" "16" "1260047" "1260047" "subst" "0.000134844" "01804" "CACNA1H_000140" "g.1260047C>T" "" "" "" "CACNA1H(NM_001005407.1):c.3757C>T (p.(Arg1253Cys)), CACNA1H(NM_021098.2):c.3757C>T (p.R1253C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680383" "0" "30" "16" "1270127" "1270127" "subst" "0.00202697" "01943" "CACNA1H_000130" "g.1270127C>T" "" "" "" "CACNA1H(NM_021098.2):c.6195C>T (p.A2065=), CACNA1H(NM_021098.3):c.6195C>T (p.A2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691931" "0" "50" "16" "1245957" "1245957" "subst" "1.22043E-5" "02327" "TPSG1_000069" "g.1245957G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691932" "0" "30" "16" "1252067" "1252067" "subst" "6.22278E-5" "01943" "TPSG1_000070" "g.1252067C>T" "" "" "" "CACNA1H(NM_021098.2):c.1617C>T (p.P539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691933" "0" "50" "16" "1268566" "1268566" "subst" "2.95428E-5" "01804" "TPSG1_000071" "g.1268566C>G" "" "" "" "CACNA1H(NM_001005407.1):c.5784C>G (p.(Phe1928Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691934" "0" "50" "16" "1270227" "1270227" "subst" "0" "01804" "TPSG1_000072" "g.1270227G>A" "" "" "" "CACNA1H(NM_001005407.1):c.6277G>A (p.(Glu2093Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725437" "0" "10" "16" "1251803" "1251803" "subst" "0.117238" "02327" "CACNA1H_000005" "g.1251803C>T" "" "" "" "CACNA1H(NM_021098.3):c.1353C>T (p.S451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725438" "0" "10" "16" "1252118" "1252118" "subst" "0.114244" "02327" "CACNA1H_000006" "g.1252118C>T" "" "" "" "CACNA1H(NM_021098.3):c.1668C>T (p.P556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725439" "0" "10" "16" "1252259" "1252259" "subst" "0.417964" "02327" "CACNA1H_000007" "g.1252259A>G" "" "" "" "CACNA1H(NM_021098.3):c.1809A>G (p.R603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725440" "0" "10" "16" "1252369" "1252369" "subst" "0.386016" "02327" "CACNA1H_000008" "g.1252369C>T" "" "" "" "CACNA1H(NM_021098.3):c.1919C>T (p.P640L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000734819" "0" "30" "16" "1256939" "1256939" "subst" "0" "00000" "CACNA1H_000147" "g.1256939A>C" "7/25 families" "{PMID:Maranhao 2015:26352687}" "" "CACNA1H:c.2790-62A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000787218" "0" "50" "16" "1245947" "1245947" "subst" "4.06977E-6" "00006" "CACNA1H_000148" "g.1245947C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1175587489" "0" "" "" "g.1195947C>G" "" "VUS" "" "0000787219" "0" "50" "16" "1251978" "1251978" "subst" "0" "00006" "CACNA1H_000149" "g.1251978C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.1201978C>A" "" "VUS" "" "0000787220" "0" "50" "16" "1257773" "1257773" "subst" "0" "00006" "CACNA1H_000151" "g.1257773G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs977157885" "0" "" "" "g.1207773G>A" "" "VUS" "" "0000787221" "0" "50" "16" "1258171" "1258171" "subst" "0.000366419" "00006" "CACNA1H_000152" "g.1258171C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs370833327" "0" "" "" "g.1208171C>T" "" "VUS" "" "0000787222" "0" "50" "16" "1260631" "1260631" "subst" "5.83095E-5" "00006" "CACNA1H_000153" "g.1260631G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs747265858" "0" "" "" "g.1210631G>A" "" "VUS" "" "0000787520" "0" "50" "16" "1263909" "1263909" "subst" "8.25103E-6" "00000" "CACNA1H_000154" "g.1263909T>C" "" "0" "" "" "" "Germline" "" "rs577258290" "0" "" "" "g.1213909T>C" "" "VUS" "" "0000787568" "0" "50" "16" "1254265" "1254265" "subst" "0" "00000" "CACNA1H_000150" "g.1254265G>T" "" "0" "" "" "" "Germline" "" "rs767816214" "0" "" "" "g.1204265G>T" "" "VUS" "" "0000807057" "0" "30" "16" "1259223" "1259223" "subst" "0.000696452" "01943" "TPSG1_000074" "g.1259223G>A" "" "" "" "CACNA1H(NM_021098.2):c.3555G>A (p.A1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807058" "0" "30" "16" "1270545" "1270545" "subst" "5.47692E-5" "01943" "TPSG1_000075" "g.1270545C>T" "" "" "" "CACNA1H(NM_021098.2):c.6613C>T (p.R2205W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854266" "0" "30" "16" "1251886" "1251886" "subst" "0.000228771" "02326" "TPSG1_000076" "g.1251886A>G" "" "" "" "CACNA1H(NM_021098.3):c.1436A>G (p.Y479C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854267" "0" "10" "16" "1251945" "1251945" "subst" "0.00180268" "02326" "CACNA1H_000070" "g.1251945G>A" "" "" "" "CACNA1H(NM_001005407.1):c.1495G>A (p.(Gly499Ser)), CACNA1H(NM_021098.3):c.1495G>A (p.G499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854268" "0" "10" "16" "1255285" "1255285" "subst" "0.00219924" "02326" "TPSG1_000077" "g.1255285C>A" "" "" "" "CACNA1H(NM_021098.3):c.2603+20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854269" "0" "30" "16" "1256996" "1256996" "subst" "9.11392E-5" "02326" "TPSG1_000022" "g.1256996C>T" "" "" "" "CACNA1H(NM_021098.3):c.2790-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854270" "0" "10" "16" "1258047" "1258047" "subst" "0.00178364" "02326" "TPSG1_000078" "g.1258047C>T" "" "" "" "CACNA1H(NM_021098.3):c.3189C>T (p.N1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854271" "0" "30" "16" "1262544" "1262544" "subst" "0.00164474" "02326" "TPSG1_000081" "g.1262544C>T" "" "" "" "CACNA1H(NM_021098.3):c.4777+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854272" "0" "30" "16" "1263781" "1263781" "subst" "3.8321E-5" "02326" "TPSG1_000082" "g.1263781G>A" "" "" "" "CACNA1H(NM_021098.3):c.4779G>A (p.E1593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854273" "0" "10" "16" "1266940" "1266940" "subst" "0.00173051" "02326" "TPSG1_000085" "g.1266940C>T" "" "" "" "CACNA1H(NM_021098.3):c.5253C>T (p.N1751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854274" "0" "30" "16" "1268596" "1268596" "subst" "0.000674437" "02326" "TPSG1_000086" "g.1268596C>T" "" "" "" "CACNA1H(NM_021098.3):c.5832C>T (p.H1944=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854275" "0" "10" "16" "1270866" "1270866" "subst" "0.00161935" "02326" "TPSG1_000052" "g.1270866A>G" "" "" "" "CACNA1H(NM_021098.3):c.6934A>G (p.M2312V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864286" "0" "30" "16" "1261231" "1261231" "subst" "8.53964E-5" "02326" "TPSG1_000079" "g.1261231C>A" "" "" "" "CACNA1H(NM_021098.3):c.4287C>A (p.P1429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864287" "0" "30" "16" "1262151" "1262151" "subst" "7.34909E-5" "02326" "TPSG1_000080" "g.1262151C>T" "" "" "" "CACNA1H(NM_021098.3):c.4759+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864288" "0" "50" "16" "1265066" "1265066" "subst" "0.000107557" "01804" "CACNA1H_000139" "g.1265066G>A" "" "" "" "CACNA1H(NM_001005407.1):c.5006G>A (p.(Arg1669Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864289" "0" "30" "16" "1265098" "1265098" "subst" "0.000316386" "02326" "TPSG1_000083" "g.1265098C>T" "" "" "" "CACNA1H(NM_021098.3):c.5039+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864290" "0" "50" "16" "1265375" "1265375" "subst" "1.66568E-5" "02326" "TPSG1_000084" "g.1265375G>C" "" "" "" "CACNA1H(NM_021098.3):c.5173G>C (p.V1725L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864291" "0" "10" "16" "1269070" "1269070" "subst" "0.00408942" "02326" "TPSG1_000087" "g.1269070C>T" "" "" "" "CACNA1H(NM_021098.3):c.5988C>T (p.H1996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864292" "0" "30" "16" "1278674" "1278674" "subst" "0" "01943" "TPSB2_000009" "g.1278674G>A" "" "" "" "TPSB2(NM_024164.5):c.804C>T (p.H268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892502" "0" "30" "16" "1203917" "1203917" "subst" "0.000326847" "02326" "TPSG1_000088" "g.1203917G>C" "" "" "" "CACNA1H(NM_021098.3):c.180G>C (p.(Ala60=), p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892503" "0" "30" "16" "1204050" "1204050" "subst" "0" "02326" "TPSG1_000089" "g.1204050C>G" "" "" "" "CACNA1H(NM_021098.3):c.299+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892504" "0" "30" "16" "1244986" "1244986" "subst" "0.00016711" "02326" "TPSG1_000090" "g.1244986T>G" "" "" "" "CACNA1H(NM_021098.3):c.314T>G (p.(Val105Gly), p.V105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892505" "0" "30" "16" "1250367" "1250367" "subst" "2.72707E-5" "02326" "TPSG1_000091" "g.1250367C>T" "" "" "" "CACNA1H(NM_021098.3):c.915C>T (p.I305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892506" "0" "30" "16" "1251686" "1251686" "subst" "0.00185054" "02326" "TPSG1_000092" "g.1251686C>T" "" "" "" "CACNA1H(NM_021098.3):c.1236C>T (p.N412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892507" "0" "30" "16" "1251963" "1251963" "subst" "0.00144471" "02326" "TPSG1_000014" "g.1251963C>T" "" "" "" "CACNA1H(NM_001005407.1):c.1513C>T (p.(Arg505Cys)), CACNA1H(NM_021098.2):c.1513C>T (p.R505C), CACNA1H(NM_021098.3):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892508" "0" "30" "16" "1256099" "1256099" "subst" "0.000249233" "02326" "TPSG1_000093" "g.1256099C>T" "" "" "" "CACNA1H(NM_021098.3):c.2604-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892509" "0" "30" "16" "1258119" "1258119" "subst" "0.000935961" "02326" "TPSG1_000094" "g.1258119C>A" "" "" "" "CACNA1H(NM_021098.3):c.3261C>A (p.T1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892510" "0" "30" "16" "1259273" "1259273" "subst" "5.34431E-5" "02326" "TPSG1_000095" "g.1259273G>A" "" "" "" "CACNA1H(NM_021098.3):c.3605G>A (p.R1202Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892511" "0" "10" "16" "1262014" "1262014" "subst" "0.00223087" "02326" "TPSG1_000096" "g.1262014C>T" "" "" "" "CACNA1H(NM_021098.3):c.4635C>T (p.F1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892512" "0" "30" "16" "1266982" "1266982" "subst" "0.000526114" "02326" "TPSG1_000097" "g.1266982G>A" "" "" "" "CACNA1H(NM_021098.3):c.5295G>A (p.A1765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892513" "0" "30" "16" "1268022" "1268022" "subst" "4.48129E-6" "02326" "TPSG1_000098" "g.1268022C>T" "" "" "" "CACNA1H(NM_021098.3):c.5427C>T (p.N1809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892514" "0" "30" "16" "1268439" "1268439" "subst" "0.00120491" "02326" "TPSG1_000099" "g.1268439G>T" "" "" "" "CACNA1H(NM_021098.3):c.5675G>T (p.R1892L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892515" "0" "30" "16" "1268604" "1268604" "subst" "0.0012409" "02326" "TPSG1_000100" "g.1268604C>T" "" "" "" "CACNA1H(NM_021098.3):c.5840C>T (p.P1947L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892516" "0" "30" "16" "1270154" "1270154" "subst" "0.000127697" "02326" "TPSG1_000101" "g.1270154C>T" "" "" "" "CACNA1H(NM_021098.3):c.6222C>T (p.(Phe2074=), p.F2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892517" "0" "30" "16" "1270205" "1270205" "subst" "0.0012696" "02326" "TPSG1_000102" "g.1270205C>T" "" "" "" "CACNA1H(NM_021098.3):c.6273C>T (p.A2091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892518" "0" "30" "16" "1270511" "1270511" "subst" "0.00311127" "02326" "TPSG1_000103" "g.1270511G>A" "" "" "" "CACNA1H(NM_021098.3):c.6579G>A (p.S2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892519" "0" "30" "16" "1270653" "1270653" "subst" "0.000470614" "02326" "TPSG1_000104" "g.1270653G>A" "" "" "" "CACNA1H(NM_021098.3):c.6721G>A (p.G2241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892520" "0" "30" "16" "1270780" "1270780" "subst" "0.00039065" "02326" "TPSG1_000050" "g.1270780A>T" "" "" "" "CACNA1H(NM_001005407.1):c.6830A>T (p.(Asp2277Val)), CACNA1H(NM_021098.3):c.6848A>T (p.D2283V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914448" "0" "30" "16" "1250370" "1250370" "subst" "0.00114226" "02326" "TPSG1_000105" "g.1250370C>T" "" "" "" "CACNA1H(NM_021098.3):c.918C>T (p.P306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914449" "0" "30" "16" "1251809" "1251809" "subst" "0.00120451" "02326" "TPSG1_000106" "g.1251809T>C" "" "" "" "CACNA1H(NM_021098.3):c.1359T>C (p.P453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914450" "0" "30" "16" "1255206" "1255206" "subst" "0.00124044" "02326" "TPSG1_000107" "g.1255206C>A" "" "" "" "CACNA1H(NM_021098.3):c.2544C>A (p.G848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914451" "0" "30" "16" "1259257" "1259257" "subst" "0.000443031" "02326" "CACNA1H_000097" "g.1259257G>A" "" "" "" "CACNA1H(NM_001005407.1):c.3589G>A (p.(Glu1197Lys)), CACNA1H(NM_021098.2):c.3589G>A (p.E1197K), CACNA1H(NM_021098.3):c.3589G>A (p.E1197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914452" "0" "30" "16" "1261550" "1261550" "subst" "0.000532717" "02326" "TPSG1_000108" "g.1261550C>T" "" "" "" "CACNA1H(NM_021098.3):c.4420C>T (p.R1474W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914453" "0" "30" "16" "1265385" "1265385" "subst" "0.000850791" "02326" "TPSG1_000109" "g.1265385C>T" "" "" "" "CACNA1H(NM_021098.3):c.5173+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914454" "0" "30" "16" "1268419" "1268419" "subst" "0.000871215" "02326" "TPSG1_000110" "g.1268419G>A" "" "" "" "CACNA1H(NM_021098.3):c.5655G>A (p.A1885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914455" "0" "10" "16" "1270871" "1270871" "subst" "0.00234858" "02326" "TPSG1_000111" "g.1270871C>T" "" "" "" "CACNA1H(NM_021098.3):c.6939C>T (p.P2313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926114" "0" "30" "16" "1204050" "1204056" "del" "0" "02326" "TPSG1_000112" "g.1204050_1204056del" "" "" "" "CACNA1H(NM_021098.3):c.299+14_299+20delCCGGCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926115" "0" "30" "16" "1245034" "1245034" "subst" "4.47916E-5" "02326" "TPSG1_000113" "g.1245034G>A" "" "" "" "CACNA1H(NM_021098.3):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926116" "0" "30" "16" "1250826" "1250826" "subst" "0.000361204" "02326" "TPSG1_000114" "g.1250826T>C" "" "" "" "CACNA1H(NM_021098.3):c.1212+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926117" "0" "30" "16" "1254276" "1254276" "subst" "9.01953E-5" "02326" "TPSG1_000115" "g.1254276G>C" "" "" "" "CACNA1H(NM_021098.3):c.2269G>C (p.G757R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926118" "0" "30" "16" "1260663" "1260663" "subst" "0.000994952" "02326" "TPSG1_000116" "g.1260663C>T" "" "" "" "CACNA1H(NM_021098.3):c.4038+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926119" "0" "30" "16" "1260666" "1260666" "subst" "0.000999444" "02326" "TPSG1_000117" "g.1260666G>T" "" "" "" "CACNA1H(NM_021098.3):c.4038+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926120" "0" "30" "16" "1262093" "1262093" "subst" "0.000134742" "02326" "TPSG1_000118" "g.1262093C>T" "" "" "" "CACNA1H(NM_021098.3):c.4714C>T (p.R1572W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926121" "0" "30" "16" "1264974" "1264974" "subst" "0.0011417" "02326" "TPSG1_000039" "g.1264974G>A" "" "" "" "CACNA1H(NM_001005407.1):c.4914G>A (p.(=)), CACNA1H(NM_021098.3):c.4932G>A (p.S1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926122" "0" "10" "16" "1270475" "1270475" "subst" "0.00163492" "02326" "TPSG1_000119" "g.1270475G>A" "" "" "" "CACNA1H(NM_021098.3):c.6543G>A (p.A2181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930497" "0" "30" "16" "1260979" "1260979" "dup" "0" "02326" "TPSG1_000120" "g.1260979dup" "" "" "" "CACNA1H(NM_021098.3):c.4223+8dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930498" "0" "30" "16" "1261963" "1261963" "subst" "0.000154578" "02326" "TPSG1_000121" "g.1261963C>T" "" "" "" "CACNA1H(NM_021098.3):c.4584C>T (p.N1528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930499" "0" "30" "16" "1269084" "1269084" "subst" "0.000302718" "02326" "TPSG1_000122" "g.1269084G>A" "" "" "" "CACNA1H(NM_021098.3):c.6002G>A (p.R2001Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936333" "0" "50" "16" "1270635" "1270635" "subst" "9.06339E-6" "00006" "CACNA1H_000155" "g.1270635A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_021098:c.A6703G (T2235A)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000950504" "0" "30" "16" "1252124" "1252124" "subst" "0.000250634" "02326" "TPSG1_000123" "g.1252124G>A" "" "" "" "CACNA1H(NM_021098.3):c.1674G>A (p.S558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950505" "0" "30" "16" "1255173" "1255173" "subst" "0.000215528" "02326" "TPSG1_000124" "g.1255173C>T" "" "" "" "CACNA1H(NM_021098.3):c.2511C>T (p.A837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950506" "0" "30" "16" "1259285" "1259285" "subst" "0.000191191" "02326" "TPSG1_000125" "g.1259285C>T" "" "" "" "CACNA1H(NM_021098.3):c.3617C>T (p.P1206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950507" "0" "30" "16" "1265393" "1265393" "subst" "0.00110098" "02326" "TPSG1_000126" "g.1265393C>T" "" "" "" "CACNA1H(NM_021098.3):c.5173+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968083" "0" "50" "16" "1248684" "1248684" "subst" "0.000333301" "02327" "TPSG1_000127" "g.1248684T>G" "" "" "" "CACNA1H(NM_021098.3):c.713T>G (p.F238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968085" "0" "30" "16" "1251831" "1251831" "subst" "0.00109995" "02326" "TPSG1_000128" "g.1251831C>T" "" "" "" "CACNA1H(NM_021098.3):c.1381C>T (p.L461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968086" "0" "30" "16" "1252394" "1252394" "subst" "0" "02326" "TPSG1_000129" "g.1252394G>A" "" "" "" "CACNA1H(NM_021098.3):c.1944G>A (p.P648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968087" "0" "30" "16" "1255107" "1255107" "subst" "0.000103684" "02326" "TPSG1_000017" "g.1255107C>T" "" "" "" "CACNA1H(NM_021098.3):c.2452-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968088" "0" "30" "16" "1256131" "1256131" "subst" "0.00188232" "02326" "TPSG1_000130" "g.1256131C>T" "" "" "" "CACNA1H(NM_021098.3):c.2631C>T (p.D877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968089" "0" "50" "16" "1257426" "1257426" "subst" "4.08403E-6" "02327" "TPSG1_000131" "g.1257426C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968090" "0" "30" "16" "1259029" "1259029" "subst" "0.000162904" "02326" "TPSG1_000132" "g.1259029C>T" "" "" "" "CACNA1H(NM_021098.3):c.3364-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968091" "0" "30" "16" "1268439" "1268439" "subst" "0.000333971" "02326" "CACNA1H_000050" "g.1268439G>A" "" "" "" "CACNA1H(NM_021098.3):c.5675G>A (p.R1892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968092" "0" "30" "16" "1269971" "1269971" "subst" "0" "02326" "TPSG1_000133" "g.1269971G>A" "" "" "" "CACNA1H(NM_021098.3):c.6049-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981565" "0" "30" "16" "1203917" "1203917" "subst" "0.000326847" "01804" "TPSG1_000088" "g.1203917G>C" "" "" "" "CACNA1H(NM_021098.3):c.180G>C (p.(Ala60=), p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981566" "0" "30" "16" "1244986" "1244986" "subst" "0.00016711" "01804" "TPSG1_000090" "g.1244986T>G" "" "" "" "CACNA1H(NM_021098.3):c.314T>G (p.(Val105Gly), p.V105G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981567" "0" "50" "16" "1245529" "1245529" "subst" "0" "01804" "TPSG1_000134" "g.1245529C>A" "" "" "" "CACNA1H(NM_021098.3):c.509C>A (p.(Thr170Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981568" "0" "30" "16" "1248684" "1248684" "subst" "0.000333301" "02326" "TPSG1_000127" "g.1248684T>G" "" "" "" "CACNA1H(NM_021098.3):c.713T>G (p.F238C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981569" "0" "50" "16" "1248746" "1248746" "subst" "0" "01804" "TPSG1_000135" "g.1248746C>T" "" "" "" "CACNA1H(NM_021098.3):c.775C>T (p.(Arg259Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981571" "0" "30" "16" "1250271" "1250271" "subst" "0.00141748" "01804" "CACNA1H_000063" "g.1250271C>T" "" "" "" "CACNA1H(NM_021098.3):c.819C>T (p.(Thr273=), p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981572" "0" "30" "16" "1250410" "1250410" "subst" "5.90907E-5" "01804" "TPSG1_000136" "g.1250410G>A" "" "" "" "CACNA1H(NM_021098.3):c.958G>A (p.(Glu320Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981573" "0" "30" "16" "1250706" "1250706" "subst" "0" "01804" "TPSG1_000137" "g.1250706G>T" "" "" "" "CACNA1H(NM_021098.3):c.1120-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981574" "0" "50" "16" "1251871" "1251871" "subst" "0" "01804" "TPSG1_000138" "g.1251871G>C" "" "" "" "CACNA1H(NM_021098.3):c.1421G>C (p.(Arg474Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981575" "0" "30" "16" "1252203" "1252203" "subst" "0.000159671" "01804" "TPSG1_000139" "g.1252203C>T" "" "" "" "CACNA1H(NM_021098.3):c.1753C>T (p.(Pro585Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981576" "0" "30" "16" "1252228" "1252239" "del" "0.000114958" "01804" "TPSG1_000140" "g.1252228_1252239del" "" "" "" "CACNA1H(NM_021098.3):c.1778_1789del (p.(His593_Thr597delinsPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981577" "0" "30" "16" "1254152" "1254152" "subst" "0.000576212" "02326" "TPSG1_000141" "g.1254152C>T" "" "" "" "CACNA1H(NM_021098.3):c.2145C>T (p.S715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981578" "0" "30" "16" "1254336" "1254336" "subst" "0.000132161" "01804" "TPSG1_000142" "g.1254336C>T" "" "" "" "CACNA1H(NM_021098.3):c.2329C>T (p.(Arg777Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981579" "0" "50" "16" "1256130" "1256130" "subst" "0" "01804" "TPSG1_000143" "g.1256130A>G" "" "" "" "CACNA1H(NM_021098.3):c.2630A>G (p.(Asp877Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981580" "0" "30" "16" "1256215" "1256215" "subst" "0" "02326" "TPSG1_000144" "g.1256215C>T" "" "" "" "CACNA1H(NM_021098.3):c.2715C>T (p.L905=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981581" "0" "30" "16" "1256216" "1256216" "subst" "4.27765E-5" "01804" "TPSG1_000021" "g.1256216G>A" "" "" "" "CACNA1H(NM_021098.2):c.2716G>A (p.V906M), CACNA1H(NM_021098.3):c.2716G>A (p.(Val906Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981582" "0" "30" "16" "1260904" "1260904" "subst" "5.002E-5" "01804" "TPSG1_000145" "g.1260904G>A" "" "" "" "CACNA1H(NM_021098.3):c.4156G>A (p.(Ala1386Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981583" "0" "30" "16" "1261300" "1261300" "subst" "2.44218E-5" "01804" "CACNA1H_000109" "g.1261300T>C" "" "" "" "CACNA1H(NM_021098.2):c.4350+6T>C (p.?), CACNA1H(NM_021098.3):c.4350+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981584" "0" "30" "16" "1262116" "1262116" "subst" "0.000239751" "02326" "TPSG1_000146" "g.1262116G>A" "" "" "" "CACNA1H(NM_021098.3):c.4737G>A (p.R1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981585" "0" "50" "16" "1268383" "1268383" "subst" "6.01938E-6" "01804" "TPSG1_000147" "g.1268383T>A" "" "" "" "CACNA1H(NM_021098.3):c.5619T>A (p.(Asp1873Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981586" "0" "50" "16" "1268384" "1268384" "subst" "0" "01804" "TPSG1_000148" "g.1268384G>T" "" "" "" "CACNA1H(NM_021098.3):c.5620G>T (p.(Ala1874Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981587" "0" "30" "16" "1269978" "1269978" "subst" "5.18888E-5" "01804" "TPSG1_000149" "g.1269978C>T" "" "" "" "CACNA1H(NM_021098.3):c.6049-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981588" "0" "50" "16" "1270110" "1270110" "subst" "0" "01804" "TPSG1_000150" "g.1270110C>T" "" "" "" "CACNA1H(NM_021098.3):c.6178C>T (p.(Arg2060Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981589" "0" "30" "16" "1270154" "1270154" "subst" "0.000127697" "01804" "TPSG1_000101" "g.1270154C>T" "" "" "" "CACNA1H(NM_021098.3):c.6222C>T (p.(Phe2074=), p.F2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981590" "0" "50" "16" "1270206" "1270206" "subst" "0" "01804" "TPSG1_000151" "g.1270206G>A" "" "" "" "CACNA1H(NM_021098.3):c.6274G>A (p.(Glu2092Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981591" "0" "50" "16" "1270736" "1270736" "subst" "8.20735E-6" "01804" "TPSG1_000152" "g.1270736T>G" "" "" "" "CACNA1H(NM_021098.3):c.6804T>G (p.(Phe2268Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981592" "0" "50" "16" "1270787" "1270787" "subst" "8.13451E-6" "01804" "TPSG1_000153" "g.1270787C>A" "" "" "" "CACNA1H(NM_021098.3):c.6855C>A (p.(Ser2285Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001859" "0" "30" "16" "1203988" "1203988" "subst" "0" "01804" "TPSG1_000154" "g.1203988G>A" "" "" "" "CACNA1H(NM_021098.2):c.251G>A (p.(Gly84Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001860" "0" "50" "16" "1204038" "1204038" "subst" "0" "01804" "TPSG1_000155" "g.1204038T>C" "" "" "" "CACNA1H(NM_021098.2):c.299+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001861" "0" "50" "16" "1250723" "1250723" "subst" "0" "01804" "TPSG1_000156" "g.1250723C>T" "" "" "" "CACNA1H(NM_021098.2):c.1127C>T (p.(Thr376Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001862" "0" "50" "16" "1250806" "1250806" "subst" "3.9773E-5" "01804" "TPSG1_000157" "g.1250806A>G" "" "" "" "CACNA1H(NM_021098.2):c.1210A>G (p.(Ile404Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001863" "0" "50" "16" "1251870" "1251870" "subst" "0" "01804" "TPSG1_000158" "g.1251870C>T" "" "" "" "CACNA1H(NM_021098.2):c.1420C>T (p.(Arg474Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001864" "0" "50" "16" "1252083" "1252083" "subst" "0" "01804" "TPSG1_000159" "g.1252083G>A" "" "" "" "CACNA1H(NM_021098.2):c.1633G>A (p.(Ala545Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001865" "0" "30" "16" "1252303" "1252303" "subst" "0.000534177" "01804" "CACNA1H_000073" "g.1252303C>T" "" "" "" "CACNA1H(NM_021098.2):c.1853C>T (p.(Pro618Leu)), CACNA1H(NM_021098.3):c.1853C>T (p.P618L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001866" "0" "30" "16" "1256126" "1256126" "subst" "0.00118637" "01804" "TPSG1_000160" "g.1256126G>A" "" "" "" "CACNA1H(NM_021098.2):c.2626G>A (p.(Ala876Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001867" "0" "50" "16" "1257357" "1257357" "subst" "3.26299E-5" "01804" "TPSG1_000161" "g.1257357C>T" "" "" "" "CACNA1H(NM_021098.2):c.2990C>T (p.(Ala997Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001868" "0" "50" "16" "1257792" "1257792" "subst" "0" "01804" "TPSG1_000162" "g.1257792C>T" "" "" "" "CACNA1H(NM_021098.2):c.3086C>T (p.(Thr1029Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001869" "0" "50" "16" "1258076" "1258076" "subst" "0" "01804" "TPSG1_000163" "g.1258076C>G" "" "" "" "CACNA1H(NM_021098.2):c.3218C>G (p.(Ser1073Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001870" "0" "50" "16" "1258166" "1258166" "subst" "5.92368E-6" "01804" "TPSG1_000164" "g.1258166C>A" "" "" "" "CACNA1H(NM_021098.2):c.3308C>A (p.(Ser1103Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001871" "0" "50" "16" "1259137" "1259137" "subst" "0" "01804" "TPSG1_000165" "g.1259137C>T" "" "" "" "CACNA1H(NM_021098.2):c.3469C>T (p.(Arg1157Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001872" "0" "30" "16" "1259297" "1259297" "subst" "0.000757547" "01804" "TPSG1_000166" "g.1259297C>T" "" "" "" "CACNA1H(NM_021098.2):c.3629C>T (p.(Pro1210Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001873" "0" "50" "16" "1259318" "1259318" "subst" "2.21268E-5" "01804" "TPSG1_000167" "g.1259318G>A" "" "" "" "CACNA1H(NM_021098.2):c.3650G>A (p.(Arg1217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001875" "0" "50" "16" "1265063" "1265063" "subst" "0" "01804" "TPSG1_000168" "g.1265063G>C" "" "" "" "CACNA1H(NM_021098.2):c.5021G>C (p.(Arg1674Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001876" "0" "50" "16" "1268246" "1268246" "subst" "0" "01804" "TPSG1_000169" "g.1268246T>C" "" "" "" "CACNA1H(NM_021098.2):c.5482T>C (p.(Cys1828Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001877" "0" "50" "16" "1269078" "1269078" "subst" "6.85551E-6" "01804" "TPSG1_000170" "g.1269078C>T" "" "" "" "CACNA1H(NM_021098.2):c.5996C>T (p.(Ser1999Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001878" "0" "50" "16" "1270243" "1270257" "del" "0" "01804" "TPSG1_000171" "g.1270243_1270257del" "" "" "" "CACNA1H(NM_021098.2):c.6311_6325delTCACCAGCTCCGCCT (p.(Ile2104_Cys2109delinsSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001879" "0" "30" "16" "1270330" "1270330" "subst" "0" "01804" "TPSG1_000172" "g.1270330G>T" "" "" "" "CACNA1H(NM_021098.2):c.6398G>T (p.(Arg2133Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001880" "0" "50" "16" "1270435" "1270435" "subst" "0" "01804" "TPSG1_000173" "g.1270435C>G" "" "" "" "CACNA1H(NM_021098.2):c.6503C>G (p.(Ala2168Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001881" "0" "30" "16" "1270645" "1270645" "subst" "2.2603E-5" "01804" "TPSG1_000174" "g.1270645C>T" "" "" "" "CACNA1H(NM_021098.2):c.6713C>T (p.(Ser2238Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001882" "0" "30" "16" "1270868" "1270868" "subst" "0" "01804" "TPSG1_000175" "g.1270868G>A" "" "" "" "CACNA1H(NM_021098.2):c.6936G>A (p.(Met2312Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011142" "11" "50" "16" "1261287" "1261287" "subst" "0" "01164" "CACNA1H_000156" "g.1261287G>A" "" "" "" "" "Gene/Disease association for ECA6 limited/supportive; ACMG: PP3_MOD, PM2_SUP, PP1 (co-segregation, father affected with febrile seizures till age 6 years)" "Germline" "yes" "" "" "" "" "g.1211287G>A" "" "VUS" "ACMG" "0001015290" "0" "30" "16" "1270181" "1270181" "subst" "8.93256E-5" "02326" "TPSG1_000176" "g.1270181G>A" "" "" "" "CACNA1H(NM_021098.3):c.6249G>A (p.P2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026561" "0" "30" "16" "1261258" "1261258" "subst" "0.00337132" "02326" "TPSG1_000177" "g.1261258C>T" "" "" "" "CACNA1H(NM_021098.3):c.4314C>T (p.C1438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040755" "0" "50" "16" "1245018" "1245018" "subst" "0" "01804" "TPSG1_000178" "g.1245018A>T" "" "" "" "CACNA1H(NM_021098.3):c.346A>T (p.(Thr116Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040756" "0" "50" "16" "1245474" "1245474" "subst" "0" "01804" "TPSG1_000179" "g.1245474G>C" "" "" "" "CACNA1H(NM_021098.3):c.454G>C (p.(Val152Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040757" "0" "50" "16" "1250424" "1250424" "subst" "0" "01804" "TPSG1_000180" "g.1250424G>T" "" "" "" "CACNA1H(NM_021098.3):c.972G>T (p.(Gln324His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040758" "0" "50" "16" "1251802" "1251802" "subst" "0" "01804" "TPSG1_000181" "g.1251802C>T" "" "" "" "CACNA1H(NM_021098.3):c.1352C>T (p.(Ser451Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040759" "0" "30" "16" "1255133" "1255133" "subst" "1.22328E-5" "01804" "TPSG1_000182" "g.1255133C>T" "" "" "" "CACNA1H(NM_021098.3):c.2471C>T (p.(Ala824Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040760" "0" "30" "16" "1268385" "1268385" "subst" "0.000255854" "01804" "TPSG1_000183" "g.1268385C>T" "" "" "" "CACNA1H(NM_021098.3):c.5621C>T (p.(Ala1874Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040761" "0" "50" "16" "1270419" "1270419" "subst" "0" "01804" "TPSG1_000184" "g.1270419G>A" "" "" "" "CACNA1H(NM_021098.3):c.6487G>A (p.(Gly2163Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040762" "0" "30" "16" "1270782" "1270782" "subst" "6.51015E-5" "01804" "TPSG1_000185" "g.1270782G>A" "" "" "" "CACNA1H(NM_021098.3):c.6850G>A (p.(Gly2284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040763" "0" "30" "16" "1271928" "1271928" "subst" "2.87212E-5" "01804" "TPSG1_000186" "g.1271928C>T" "" "" "" "TPSG1(NM_012467.4):c.826G>A (p.(Glu276Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055303" "0" "50" "16" "1256294" "1256294" "subst" "0" "01804" "TPSG1_000187" "g.1256294G>A" "" "" "" "CACNA1H(NM_021098.3):c.2789+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055304" "0" "30" "16" "1265346" "1265346" "subst" "4.52798E-5" "01804" "TPSG1_000188" "g.1265346G>A" "" "" "" "CACNA1H(NM_021098.3):c.5144G>A (p.(Arg1715His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055305" "0" "50" "16" "1265585" "1265585" "subst" "0" "01804" "TPSG1_000189" "g.1265585C>G" "" "" "" "CACNA1H(NM_021098.3):c.5236C>G (p.(Leu1746Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055306" "0" "50" "16" "1268968" "1268968" "subst" "6.74737E-6" "01804" "TPSG1_000190" "g.1268968A>G" "" "" "" "CACNA1H(NM_021098.3):c.5888-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055307" "0" "50" "16" "1270329" "1270329" "subst" "0" "01804" "TPSG1_000191" "g.1270329C>T" "" "" "" "CACNA1H(NM_021098.3):c.6397C>T (p.(Arg2133Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062844" "0" "50" "16" "1257274" "1257274" "subst" "0" "03779" "chr16_007639" "g.1257274G>A" "" "" "" "" "" "Unknown" "" "rs2548680347" "0" "" "" "" "" "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 CACNA1H ## Count = 425 "{{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}}" "0000062207" "00023854" "10" "2603" "12" "2603" "12" "c.2603+12C>T" "r.(=)" "p.(=)" "" "0000062208" "00023854" "50" "3745" "-23" "3745" "-23" "c.3745-23G>A" "r.(=)" "p.(=)" "" "0000062209" "00023854" "50" "2452" "-70" "2452" "-70" "c.2452-70del" "r.(=)" "p.(=)" "" "0000062210" "00023854" "10" "3064" "-39" "3064" "-39" "c.3064-39G>A" "r.(=)" "p.(=)" "" "0000062211" "00023854" "10" "3744" "44" "3744" "44" "c.3744+44G>C" "r.(=)" "p.(=)" "" "0000062212" "00023854" "10" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Ala2140Thr)" "" "0000062213" "00023854" "10" "5897" "0" "5897" "0" "c.5897C>T" "r.(?)" "p.(Ala1966Val)" "" "0000062214" "00023854" "50" "2452" "-74" "2452" "-74" "c.2452-74G>C" "r.(=)" "p.(=)" "" "0000062215" "00023854" "10" "5244" "7" "5244" "7" "c.5244+7G>A" "r.(=)" "p.(=)" "" "0000062216" "00023854" "10" "2604" "-19" "2604" "-19" "c.2604-19C>T" "r.(=)" "p.(=)" "" "0000062217" "00023854" "10" "5721" "0" "5721" "0" "c.5721C>T" "r.(=)" "p.(=)" "" "0000062218" "00023854" "10" "1107" "0" "1107" "0" "c.1107T>C" "r.(=)" "p.(=)" "" "0000062219" "00023854" "10" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Cys)" "" "0000062220" "00023854" "10" "4929" "18" "4929" "18" "c.4929+18G>A" "r.(=)" "p.(=)" "" "0000062221" "00023854" "10" "5244" "28" "5244" "28" "c.5244+28G>A" "r.(=)" "p.(=)" "" "0000062222" "00023854" "10" "1668" "0" "1668" "0" "c.1668C>T" "r.(=)" "p.(=)" "" "0000062223" "00023854" "10" "1809" "0" "1809" "0" "c.1809A>G" "r.(=)" "p.(=)" "" "0000062224" "00023854" "10" "4338" "0" "4338" "0" "c.4338T>C" "r.(=)" "p.(=)" "" "0000062225" "00023854" "10" "6048" "53" "6048" "53" "c.6048+53A>G" "r.(=)" "p.(=)" "" "0000062226" "00023854" "10" "6048" "17" "6048" "17" "c.6048+17del" "r.(=)" "p.(=)" "" "0000062227" "00023854" "10" "5947" "0" "5947" "0" "c.5947T>C" "r.(=)" "p.(=)" "" "0000062228" "00023854" "10" "4350" "83" "4350" "83" "c.4350+83G>A" "r.(=)" "p.(=)" "" "0000062229" "00023854" "10" "2452" "-56" "2452" "-56" "c.2452-56T>G" "r.(=)" "p.(=)" "" "0000062230" "00023854" "10" "300" "-85" "300" "-85" "c.300-85T>A" "r.(=)" "p.(=)" "" "0000062231" "00023854" "10" "5730" "0" "5730" "0" "c.5730C>T" "r.(=)" "p.(=)" "" "0000062232" "00023854" "10" "3745" "-14" "3745" "-14" "c.3745-14G>T" "r.(=)" "p.(=)" "" "0000062233" "00023854" "50" "411" "42" "411" "42" "c.411+42T>C" "r.(=)" "p.(=)" "" "0000062234" "00023854" "10" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "" "0000062235" "00023854" "10" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Arg1871Gln)" "" "0000062236" "00023854" "10" "3969" "35" "3969" "35" "c.3969+35C>T" "r.(=)" "p.(=)" "" "0000062237" "00023854" "10" "4275" "0" "4275" "0" "c.4275A>G" "r.(=)" "p.(=)" "" "0000062238" "00023854" "10" "4223" "53" "4223" "53" "c.4223+53C>T" "r.(=)" "p.(=)" "" "0000062239" "00023854" "10" "4221" "0" "4221" "0" "c.4221G>A" "r.(=)" "p.(=)" "" "0000062240" "00023854" "10" "4278" "0" "4278" "0" "c.4278A>G" "r.(=)" "p.(=)" "" "0000062241" "00023854" "10" "4039" "-20" "4039" "-20" "c.4039-20G>A" "r.(=)" "p.(=)" "" "0000062242" "00023854" "50" "2937" "0" "2937" "0" "c.2937C>G" "r.(=)" "p.(=)" "" "0000062243" "00023854" "10" "3957" "0" "3957" "0" "c.3957T>C" "r.(=)" "p.(=)" "" "0000062244" "00023854" "10" "2967" "0" "2967" "0" "c.2967C>T" "r.(=)" "p.(=)" "" "0000062245" "00023854" "10" "1353" "0" "1353" "0" "c.1353C>T" "r.(=)" "p.(=)" "" "0000062246" "00023854" "50" "2452" "-84" "2452" "-84" "c.2452-84A>G" "r.(=)" "p.(=)" "" "0000062247" "00023854" "10" "6179" "0" "6179" "0" "c.6179G>A" "r.(?)" "p.(Arg2060His)" "" "0000062248" "00023854" "10" "6013" "0" "6013" "0" "c.6013C>T" "r.(?)" "p.(Arg2005Cys)" "" "0000062249" "00023854" "10" "937" "0" "937" "0" "c.937A>G" "r.(?)" "p.(Met313Val)" "" "0000062250" "00023854" "10" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077His)" "" "0000062251" "00023854" "10" "300" "-95" "300" "-95" "c.300-95G>A" "r.(=)" "p.(=)" "" "0000062252" "00023854" "10" "299" "20" "299" "40" "c.299+20_299+40del" "r.(=)" "p.(=)" "" "0000062253" "00023854" "10" "6417" "0" "6417" "0" "c.6417T>C" "r.(=)" "p.(=)" "" "0000062254" "00023854" "50" "6048" "17" "6048" "17" "c.6048+17del" "r.(=)" "p.(=)" "" "0000062255" "00023854" "10" "4023" "0" "4023" "0" "c.4023G>A" "r.(=)" "p.(=)" "" "0000062256" "00023854" "10" "5418" "0" "5418" "0" "c.5418G>C" "r.(=)" "p.(=)" "" "0000241265" "00023854" "70" "5675" "0" "5675" "0" "c.5675G>A" "r.(?)" "p.(Arg1892His)" "44" "0000244187" "00023854" "90" "2051" "0" "2051" "0" "c.2051C>A" "r.(?)" "p.(Pro684His)" "" "0000244188" "00023854" "90" "6898" "0" "6898" "0" "c.6898A>G" "r.(?)" "p.(Ile2300Val)" "" "0000248678" "00023854" "10" "4275" "0" "4275" "0" "c.4275A>G" "r.(?)" "p.(Ser1425=)" "" "0000248679" "00023854" "10" "4278" "0" "4278" "0" "c.4278A>G" "r.(?)" "p.(Ser1426=)" "" "0000251040" "00023854" "10" "1809" "0" "1809" "0" "c.1809A>G" "r.(?)" "p.(Arg603=)" "" "0000251903" "00023854" "30" "2354" "0" "2354" "0" "c.2354A>T" "r.(?)" "p.(Lys785Met)" "" "0000252275" "00023854" "30" "804" "-166" "804" "-166" "c.804-166A>G" "r.(=)" "p.(=)" "" "0000252276" "00023854" "30" "3846" "-6" "3846" "-6" "c.3846-6A>C" "r.(=)" "p.(=)" "" "0000266440" "00023854" "30" "2229" "0" "2229" "0" "c.2229G>A" "r.(?)" "p.(Thr743=)" "" "0000266441" "00023854" "10" "270" "0" "270" "0" "c.270C>G" "r.(?)" "p.(Arg90=)" "" "0000266442" "00023854" "30" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Glu1197Lys)" "" "0000266443" "00023854" "10" "3745" "-14" "3745" "-14" "c.3745-14G>T" "r.(=)" "p.(=)" "" "0000266444" "00023854" "10" "3957" "0" "3957" "0" "c.3957T>C" "r.(?)" "p.(Asp1319=)" "" "0000266445" "00023854" "10" "4039" "-20" "4039" "-20" "c.4039-20G>A" "r.(=)" "p.(=)" "" "0000266446" "00023854" "10" "4338" "0" "4338" "0" "c.4338T>C" "r.(?)" "p.(Ile1446=)" "" "0000266447" "00023854" "10" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0000266448" "00023854" "10" "5493" "0" "5493" "0" "c.5493C>T" "r.(?)" "p.(Tyr1831=)" "" "0000266449" "00023854" "10" "5730" "0" "5730" "0" "c.5730C>T" "r.(?)" "p.(Asp1910=)" "" "0000266450" "00023854" "10" "5947" "0" "5947" "0" "c.5947T>C" "r.(?)" "p.(Leu1983=)" "" "0000266451" "00023854" "30" "6048" "17" "6048" "17" "c.6048+17del" "r.(=)" "p.(=)" "" "0000266452" "00023854" "10" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077His)" "" "0000266453" "00023854" "10" "6417" "0" "6417" "0" "c.6417T>C" "r.(?)" "p.(Asp2139=)" "" "0000269576" "00023854" "30" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Asn356=)" "" "0000269577" "00023854" "10" "1120" "-8" "1120" "-8" "c.1120-8C>T" "r.(=)" "p.(=)" "" "0000269578" "00023854" "30" "1212" "23" "1212" "23" "c.1212+23G>A" "r.(=)" "p.(=)" "" "0000269579" "00023854" "30" "1310" "0" "1310" "0" "c.1310G>A" "r.(?)" "p.(Arg437Gln)" "" "0000269580" "00023854" "30" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Ala555Val)" "" "0000269581" "00023854" "10" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Pro556=)" "" "0000269582" "00023854" "30" "1824" "0" "1824" "0" "c.1824G>A" "r.(?)" "p.(Leu608=)" "" "0000269583" "00023854" "50" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Pro618Leu)" "" "0000269584" "00023854" "10" "1966" "0" "1966" "0" "c.1966C>T" "r.(?)" "p.(Pro656Ser)" "" "0000269585" "00023854" "30" "2002" "65" "2002" "65" "c.2002+65G>T" "r.(=)" "p.(=)" "" "0000269586" "00023854" "30" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Pro686Leu)" "" "0000269587" "00023854" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Pro752Leu)" "" "0000269588" "00023854" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Gly755=)" "" "0000269589" "00023854" "10" "2452" "-31" "2452" "-31" "c.2452-31C>T" "r.(=)" "p.(=)" "" "0000269590" "00023854" "30" "2540" "0" "2540" "0" "c.2540G>T" "r.(?)" "p.(Cys847Phe)" "" "0000269591" "00023854" "30" "2603" "109" "2603" "109" "c.2603+109G>T" "r.(=)" "p.(=)" "" "0000269592" "00023854" "10" "2603" "12" "2603" "12" "c.2603+12C>T" "r.(=)" "p.(=)" "" "0000269593" "00023854" "30" "2604" "-88" "2604" "-88" "c.2604-88C>A" "r.(=)" "p.(=)" "" "0000269594" "00023854" "30" "2759" "0" "2759" "0" "c.2759C>T" "r.(?)" "p.(Thr920Met)" "" "0000269595" "00023854" "30" "2789" "8" "2789" "8" "c.2789+8C>A" "r.(=)" "p.(=)" "" "0000269596" "00023854" "10" "2881" "0" "2881" "0" "c.2881C>T" "r.(?)" "p.(Leu961=)" "" "0000269597" "00023854" "10" "2967" "0" "2967" "0" "c.2967C>T" "r.(?)" "p.(Ser989=)" "" "0000269598" "00023854" "30" "299" "20" "299" "40" "c.299+20_299+40del" "r.(=)" "p.(=)" "" "0000269599" "00023854" "30" "3155" "-11" "3155" "-11" "c.3155-11C>G" "r.(=)" "p.(=)" "" "0000269600" "00023854" "30" "3175" "0" "3175" "0" "c.3175G>T" "r.(?)" "p.(Ala1059Ser)" "" "0000269601" "00023854" "30" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Gly1111Arg)" "" "0000269602" "00023854" "30" "3364" "-112" "3364" "-112" "c.3364-112G>T" "r.(=)" "p.(=)" "" "0000269603" "00023854" "30" "3364" "-52" "3364" "-52" "c.3364-52G>A" "r.(=)" "p.(=)" "" "0000269604" "00023854" "30" "3374" "0" "3374" "0" "c.3374G>A" "r.(?)" "p.(Arg1125Gln)" "" "0000269605" "00023854" "30" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(Ala1223=)" "" "0000269606" "00023854" "30" "3738" "0" "3738" "0" "c.3738G>A" "r.(?)" "p.(Ser1246=)" "" "0000269607" "00023854" "30" "3744" "88" "3744" "88" "c.3744+88G>C" "r.(=)" "p.(=)" "" "0000269608" "00023854" "30" "3846" "-10" "3846" "-10" "c.3846-10G>C" "r.(=)" "p.(=)" "" "0000269609" "00023854" "30" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Ser)" "" "0000269610" "00023854" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Ser130=)" "" "0000269611" "00023854" "30" "3925" "0" "3925" "0" "c.3925G>A" "r.(?)" "p.(Val1309Ile)" "" "0000269612" "00023854" "10" "3957" "0" "3957" "0" "c.3957T>C" "r.(?)" "p.(Asp1319=)" "" "0000269613" "00023854" "30" "4039" "-4" "4039" "-4" "c.4039-4G>A" "r.spl?" "p.?" "" "0000269614" "00023854" "30" "412" "-71" "412" "-71" "c.412-71C>T" "r.(=)" "p.(=)" "" "0000269615" "00023854" "30" "4223" "92" "4223" "92" "c.4223+92C>T" "r.(=)" "p.(=)" "" "0000269616" "00023854" "10" "4224" "-58" "4224" "-58" "c.4224-58C>T" "r.(=)" "p.(=)" "" "0000269617" "00023854" "30" "4224" "-6" "4224" "-6" "c.4224-6C>T" "r.(=)" "p.(=)" "" "0000269618" "00023854" "30" "4350" "6" "4350" "6" "c.4350+6T>C" "r.(=)" "p.(=)" "" "0000269619" "00023854" "30" "4567" "-25" "4567" "-25" "c.4567-25G>T" "r.(=)" "p.(=)" "" "0000269620" "00023854" "30" "4741" "0" "4741" "0" "c.4741C>G" "r.(?)" "p.(Leu1581Val)" "" "0000269621" "00023854" "30" "4778" "-14" "4778" "-14" "c.4778-14C>T" "r.(=)" "p.(=)" "" "0000269622" "00023854" "30" "4778" "-5" "4778" "-5" "c.4778-5C>T" "r.spl?" "p.?" "" "0000269623" "00023854" "30" "4817" "0" "4817" "0" "c.4817C>T" "r.(?)" "p.(Thr1606Met)" "" "0000269624" "00023854" "30" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0000269625" "00023854" "30" "4929" "18" "4929" "18" "c.4929+18G>A" "r.(=)" "p.(=)" "" "0000269626" "00023854" "30" "4929" "8" "4929" "8" "c.4929+8C>T" "r.(=)" "p.(=)" "" "0000269627" "00023854" "30" "5039" "71" "5039" "71" "c.5039+71C>T" "r.(=)" "p.(=)" "" "0000269628" "00023854" "10" "5173" "37" "5173" "37" "c.5173+37G>A" "r.(=)" "p.(=)" "" "0000269630" "00023854" "30" "5324" "-4" "5324" "-4" "c.5324-4G>A" "r.spl?" "p.?" "" "0000269631" "00023854" "10" "5445" "4" "5445" "4" "c.5445+4C>T" "r.spl?" "p.?" "" "0000269632" "00023854" "30" "5445" "6" "5445" "6" "c.5445+6C>T" "r.(=)" "p.(=)" "" "0000269633" "00023854" "10" "546" "-10" "546" "-10" "c.546-10C>T" "r.(=)" "p.(=)" "" "0000269634" "00023854" "30" "546" "-47" "546" "-47" "c.546-47C>T" "r.(=)" "p.(=)" "" "0000269635" "00023854" "10" "5493" "0" "5493" "0" "c.5493C>T" "r.(?)" "p.(Tyr1831=)" "" "0000269636" "00023854" "10" "5612" "0" "5612" "0" "c.5612G>A" "r.(?)" "p.(Arg1871Gln)" "" "0000269637" "00023854" "10" "5897" "0" "5897" "0" "c.5897C>T" "r.(?)" "p.(Ala1966Val)" "" "0000269638" "00023854" "10" "5947" "0" "5947" "0" "c.5947T>C" "r.(?)" "p.(Leu1983=)" "" "0000269639" "00023854" "30" "5989" "0" "5989" "0" "c.5989G>A" "r.(?)" "p.(Ala1997Thr)" "" "0000269640" "00023854" "10" "6013" "0" "6013" "0" "c.6013C>T" "r.(?)" "p.(Arg2005Cys)" "" "0000269641" "00023854" "30" "6048" "12" "6048" "12" "c.6048+12C>T" "r.(=)" "p.(=)" "" "0000269642" "00023854" "10" "6048" "13" "6048" "13" "c.6048+13G>A" "r.(=)" "p.(=)" "" "0000269643" "00023854" "10" "6179" "0" "6179" "0" "c.6179G>A" "r.(?)" "p.(Arg2060His)" "" "0000269644" "00023854" "30" "6195" "0" "6195" "0" "c.6195C>T" "r.(?)" "p.(Ala2065=)" "" "0000269645" "00023854" "10" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077His)" "" "0000269646" "00023854" "30" "6322" "0" "6322" "0" "c.6322G>A" "r.(?)" "p.(Ala2108Thr)" "" "0000269647" "00023854" "10" "6417" "0" "6417" "0" "c.6417T>C" "r.(?)" "p.(Asp2139=)" "" "0000269648" "00023854" "30" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Ala2140Thr)" "" "0000269649" "00023854" "10" "643" "11" "643" "11" "c.643+11G>A" "r.(=)" "p.(=)" "" "0000269650" "00023854" "30" "6545" "0" "6545" "0" "c.6545G>A" "r.(?)" "p.(Arg2182His)" "" "0000269651" "00023854" "30" "6653" "0" "6653" "0" "c.6653G>A" "r.(?)" "p.(Arg2218His)" "" "0000269652" "00023854" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Thr273=)" "" "0000269653" "00023854" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Val330Met)" "" "0000269654" "00023854" "10" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Ala332Thr)" "" "0000272515" "00023854" "50" "3383" "0" "3383" "0" "c.3383C>T" "r.(?)" "p.(Pro1128Leu)" "" "0000272516" "00023854" "30" "3579" "0" "3579" "0" "c.3579G>T" "r.(?)" "p.(Leu1193=)" "" "0000316993" "00023854" "30" "8837" "0" "8837" "0" "c.*1775T>G" "r.(=)" "p.(=)" "" "0000324403" "00023854" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Ser)" "" "0000324404" "00023854" "50" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Pro1121Leu)" "" "0000324405" "00023854" "50" "3758" "0" "3758" "0" "c.3758G>A" "r.(?)" "p.(Arg1253His)" "" "0000324406" "00023854" "50" "4007" "0" "4007" "0" "c.4007C>T" "r.(?)" "p.(Thr1336Met)" "" "0000324407" "00023854" "50" "4881" "0" "4881" "0" "c.4881C>G" "r.(?)" "p.(Ile1627Met)" "" "0000324408" "00023854" "10" "5113" "0" "5113" "0" "c.5113G>A" "r.(?)" "p.(Ala1705Thr)" "" "0000324409" "00023854" "30" "5687" "0" "5687" "0" "c.5687C>T" "r.(?)" "p.(Ala1896Val)" "" "0000339002" "00023854" "30" "3581" "0" "3581" "0" "c.3581G>A" "r.(?)" "p.(Arg1194Gln)" "" "0000348813" "00023854" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Ser196Leu)" "" "0000406010" "00023854" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000442484" "00023854" "50" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.Arg1253Cys" "" "0000556506" "00023854" "30" "411" "18" "411" "40" "c.411+18_411+40del" "r.(=)" "p.(=)" "" "0000556507" "00023854" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Val152Ile)" "" "0000556508" "00023854" "30" "489" "0" "489" "0" "c.489G>C" "r.(?)" "p.(Gln163His)" "" "0000556509" "00023854" "50" "721" "0" "721" "0" "c.721T>G" "r.(?)" "p.(Phe241Val)" "" "0000556510" "00023854" "30" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Arg276Gln)" "" "0000556511" "00023854" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Val330Met)" "" "0000556512" "00023854" "30" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Gly331=)" "" "0000556513" "00023854" "30" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Ala332Thr)" "" "0000556514" "00023854" "30" "1120" "-8" "1120" "-8" "c.1120-8C>T" "r.(=)" "p.(=)" "" "0000556515" "00023854" "30" "1338" "0" "1338" "0" "c.1338G>A" "r.(?)" "p.(Thr446=)" "" "0000556516" "00023854" "10" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Ser451=)" "" "0000556518" "00023854" "10" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Cys)" "" "0000556519" "00023854" "30" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Cys)" "" "0000556520" "00023854" "30" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Gly540Ser)" "" "0000556521" "00023854" "30" "1664" "0" "1664" "0" "c.1664C>T" "r.(?)" "p.(Ala555Val)" "" "0000556522" "00023854" "10" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "" "0000556523" "00023854" "10" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "" "0000556525" "00023854" "50" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Pro686Leu)" "" "0000556526" "00023854" "30" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Pro686Leu)" "" "0000556527" "00023854" "30" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Thr781Ile)" "" "0000556528" "00023854" "30" "2354" "0" "2354" "0" "c.2354A>T" "r.(?)" "p.(Lys785Met)" "" "0000556531" "00023854" "30" "2587" "0" "2587" "0" "c.2587A>T" "r.(?)" "p.(Ile863Phe)" "" "0000556532" "00023854" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884His)" "" "0000556533" "00023854" "30" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Val906Met)" "" "0000556536" "00023854" "30" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Val978Met)" "" "0000556537" "00023854" "30" "2946" "0" "2946" "0" "c.2946C>T" "r.(?)" "p.(Asn982=)" "" "0000556538" "00023854" "10" "3063" "161" "3063" "161" "c.3063+161G>A" "r.(=)" "p.(=)" "" "0000556539" "00023854" "30" "3163" "0" "3163" "0" "c.3163A>G" "r.(?)" "p.(Met1055Val)" "" "0000556540" "00023854" "30" "3175" "0" "3175" "0" "c.3175G>T" "r.(?)" "p.(Ala1059Ser)" "" "0000556541" "00023854" "30" "3206" "0" "3206" "0" "c.3206G>A" "r.(?)" "p.(Arg1069Gln)" "" "0000556542" "00023854" "30" "3291" "0" "3291" "0" "c.3291C>T" "r.(?)" "p.(Ala1097=)" "" "0000556543" "00023854" "30" "3331" "0" "3331" "0" "c.3331G>A" "r.(?)" "p.(Gly1111Arg)" "" "0000556544" "00023854" "30" "3362" "0" "3362" "0" "c.3362C>T" "r.(?)" "p.(Pro1121Leu)" "" "0000556546" "00023854" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000556547" "00023854" "30" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Glu1197Lys)" "" "0000556548" "00023854" "30" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Glu1197Lys)" "" "0000556549" "00023854" "50" "3604" "0" "3604" "0" "c.3604C>T" "r.(?)" "p.(Arg1202Trp)" "" "0000556550" "00023854" "30" "3614" "0" "3614" "0" "c.3614G>A" "r.(?)" "p.(Arg1205Gln)" "" "0000556551" "00023854" "50" "3742" "0" "3742" "0" "c.3742G>A" "r.(?)" "p.(Asp1248Asn)" "" "0000556552" "00023854" "50" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Arg1253Cys)" "" "0000556553" "00023854" "30" "3792" "0" "3792" "0" "c.3792G>T" "r.(?)" "p.(Gln1264His)" "" "0000556554" "00023854" "30" "3846" "-16" "3846" "-16" "c.3846-16G>C" "r.(=)" "p.(=)" "" "0000556555" "00023854" "30" "3846" "-6" "3846" "-6" "c.3846-6A>C" "r.(=)" "p.(=)" "" "0000556556" "00023854" "30" "3846" "-2" "3848" "0" "c.3846-2_3848del" "r.spl?" "p.?" "" "0000556557" "00023854" "30" "3925" "0" "3925" "0" "c.3925G>A" "r.(?)" "p.(Val1309Ile)" "" "0000556558" "00023854" "30" "4038" "22" "4038" "22" "c.4038+22G>A" "r.(=)" "p.(=)" "" "0000556560" "00023854" "30" "4224" "-6" "4224" "-6" "c.4224-6C>T" "r.(=)" "p.(=)" "" "0000556561" "00023854" "30" "4621" "0" "4621" "0" "c.4621A>G" "r.(?)" "p.(Ile1541Val)" "" "0000556563" "00023854" "30" "4932" "0" "4932" "0" "c.4932G>A" "r.(?)" "p.(Ser1644=)" "" "0000556564" "00023854" "30" "5113" "0" "5113" "0" "c.5113G>A" "r.(?)" "p.(Ala1705Thr)" "" "0000556565" "00023854" "10" "5245" "-129" "5245" "-128" "c.5245-129_5245-128insT" "r.(=)" "p.(=)" "" "0000556566" "00023854" "30" "5324" "-4" "5324" "-4" "c.5324-4G>A" "r.spl?" "p.?" "" "0000556567" "00023854" "30" "5445" "4" "5445" "4" "c.5445+4C>T" "r.spl?" "p.?" "" "0000556568" "00023854" "10" "5493" "0" "5493" "0" "c.5493C>T" "r.(?)" "p.(Tyr1831=)" "" "0000556569" "00023854" "50" "5573" "0" "5573" "0" "c.5573T>C" "r.(?)" "p.(Val1858Ala)" "" "0000556572" "00023854" "30" "5664" "0" "5664" "0" "c.5664C>T" "r.(?)" "p.(Pro1888=)" "" "0000556574" "00023854" "30" "5897" "0" "5897" "0" "c.5897C>T" "r.(?)" "p.(Ala1966Val)" "" "0000556577" "00023854" "30" "6396" "0" "6396" "0" "c.6396G>A" "r.(?)" "p.(Leu2132=)" "" "0000556578" "00023854" "30" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Ala2140Thr)" "" "0000556579" "00023854" "30" "6494" "0" "6494" "0" "c.6494C>G" "r.(?)" "p.(Pro2165Arg)" "" "0000556580" "00023854" "30" "6531" "0" "6531" "0" "c.6531C>T" "r.(?)" "p.(Pro2177=)" "" "0000556581" "00023854" "30" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Ala2208Thr)" "" "0000556582" "00023854" "50" "6653" "0" "6653" "0" "c.6653G>A" "r.(?)" "p.(Arg2218His)" "" "0000556583" "00023854" "30" "6653" "0" "6653" "0" "c.6653G>A" "r.(?)" "p.(Arg2218His)" "" "0000556584" "00023854" "30" "6848" "0" "6848" "0" "c.6848A>T" "r.(?)" "p.(Asp2283Val)" "" "0000556585" "00023854" "30" "6868" "0" "6868" "0" "c.6868C>G" "r.(?)" "p.(Pro2290Ala)" "" "0000556587" "00023854" "30" "9492" "0" "9492" "0" "c.*2430C>T" "r.(=)" "p.(=)" "" "0000556588" "00023854" "30" "14970" "0" "14970" "0" "c.*7908G>T" "r.(=)" "p.(=)" "" "0000556589" "00023854" "30" "14974" "0" "14974" "0" "c.*7912T>G" "r.(=)" "p.(=)" "" "0000556591" "00023854" "30" "14987" "0" "14987" "0" "c.*7925G>C" "r.(=)" "p.(=)" "" "0000615683" "00023854" "30" "1182" "0" "1182" "0" "c.1182C>T" "r.(?)" "p.(Tyr394=)" "" "0000615684" "00023854" "50" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Arg434Trp)" "" "0000615685" "00023854" "30" "1548" "0" "1548" "0" "c.1548C>G" "r.(?)" "p.(His516Gln)" "" "0000615686" "00023854" "30" "1662" "0" "1662" "0" "c.1662C>T" "r.(?)" "p.(Gly554=)" "" "0000615687" "00023854" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Ala824Thr)" "" "0000615688" "00023854" "30" "3081" "0" "3081" "0" "c.3081C>G" "r.(?)" "p.(Ser1027=)" "" "0000615689" "00023854" "30" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Pro1201Ser)" "" "0000615690" "00023854" "30" "4047" "0" "4047" "0" "c.4047C>T" "r.(?)" "p.(Ala1349=)" "" "0000615691" "00023854" "30" "5378" "0" "5378" "0" "c.5378A>G" "r.(?)" "p.(Asn1793Ser)" "" "0000615692" "00023854" "30" "5749" "0" "5749" "0" "c.5749C>T" "r.(?)" "p.(Arg1917Cys)" "" "0000615693" "00023854" "30" "6235" "0" "6235" "0" "c.6235G>A" "r.(?)" "p.(Val2079Ile)" "" "0000615694" "00023854" "30" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Ala2140Thr)" "" "0000615695" "00023854" "30" "6622" "0" "6622" "0" "c.6622G>A" "r.(?)" "p.(Ala2208Thr)" "" "0000623362" "00023854" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Val267=)" "" "0000623363" "00023854" "30" "1029" "0" "1029" "0" "c.1029C>T" "r.(?)" "p.(Tyr343=)" "" "0000623364" "00023854" "30" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Asp568Asn)" "" "0000623365" "00023854" "30" "1824" "0" "1824" "0" "c.1824G>A" "r.(?)" "p.(Leu608=)" "" "0000623366" "00023854" "30" "3042" "0" "3042" "0" "c.3042C>T" "r.(?)" "p.(Leu1014=)" "" "0000623367" "00023854" "30" "6717" "0" "6717" "0" "c.6717C>T" "r.(?)" "p.(Gly2239=)" "" "0000649212" "00023854" "10" "498" "0" "498" "0" "c.498C>T" "r.(=)" "p.(=)" "" "0000649213" "00023854" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Arg309His)" "" "0000649214" "00023854" "10" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Ala332Thr)" "" "0000649215" "00023854" "10" "1120" "-8" "1120" "-8" "c.1120-8C>T" "r.(=)" "p.(=)" "" "0000649216" "00023854" "50" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Pro618Leu)" "" "0000649217" "00023854" "10" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Ser677Leu)" "" "0000649218" "00023854" "30" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Pro686Leu)" "" "0000649219" "00023854" "30" "3206" "0" "3206" "0" "c.3206G>A" "r.(?)" "p.(Arg1069Gln)" "" "0000649220" "00023854" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000659692" "00023854" "50" "6038" "0" "6038" "0" "c.6038T>C" "r.(?)" "p.(Leu2013Pro)" "" "0000660267" "00023854" "50" "4789" "0" "4789" "0" "c.4789C>T" "r.(?)" "p.(Arg1597Trp)" "" "0000669307" "00023854" "10" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Ala332Thr)" "" "0000673638" "00023854" "50" "3311" "0" "3311" "0" "c.3311G>A" "r.(?)" "p.(Arg1104Gln)" "" "0000680382" "00023854" "50" "3757" "0" "3757" "0" "c.3757C>T" "r.(?)" "p.(Arg1253Cys)" "" "0000680383" "00023854" "30" "6195" "0" "6195" "0" "c.6195C>T" "r.(?)" "p.(Ala2065=)" "" "0000691931" "00023854" "50" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Val193Leu)" "" "0000691932" "00023854" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Pro539=)" "" "0000691933" "00023854" "50" "5802" "0" "5802" "0" "c.5802C>G" "r.(?)" "p.(Phe1934Leu)" "" "0000691934" "00023854" "50" "6295" "0" "6295" "0" "c.6295G>A" "r.(?)" "p.(Glu2099Lys)" "" "0000725437" "00023854" "10" "1353" "0" "1353" "0" "c.1353C>T" "r.(?)" "p.(Ser451=)" "" "0000725438" "00023854" "10" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Pro556=)" "" "0000725439" "00023854" "10" "1809" "0" "1809" "0" "c.1809A>G" "r.(?)" "p.(Arg603=)" "" "0000725440" "00023854" "10" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "" "0000734819" "00023854" "30" "2790" "-62" "2790" "-62" "c.2790-62A>C" "r.(=)" "p.(=)" "" "0000787218" "00023854" "50" "567" "0" "567" "0" "c.567C>G" "r.(?)" "p.(Asp189Glu)" "5" "0000787219" "00023854" "50" "1528" "0" "1528" "0" "c.1528C>A" "r.(?)" "p.(His510Asn)" "9" "0000787220" "00023854" "50" "3067" "0" "3067" "0" "c.3067G>A" "r.(?)" "p.(Asp1023Asn)" "15" "0000787221" "00023854" "50" "3313" "0" "3313" "0" "c.3313C>T" "r.(?)" "p.(Arg1105Cys)" "16" "0000787222" "00023854" "50" "4018" "0" "4018" "0" "c.4018G>A" "r.(?)" "p.(Val1340Met)" "20" "0000787520" "00023854" "50" "4907" "0" "4907" "0" "c.4907T>C" "r.(?)" "p.(Met1636Thr)" "27" "0000787568" "00023854" "50" "2258" "0" "2258" "0" "c.2258G>T" "r.(?)" "p.(Gly753Val)" "10" "0000807057" "00023854" "30" "3555" "0" "3555" "0" "c.3555G>A" "r.(?)" "p.(Ala1185=)" "" "0000807058" "00023854" "30" "6613" "0" "6613" "0" "c.6613C>T" "r.(?)" "p.(Arg2205Trp)" "" "0000854266" "00023854" "30" "1436" "0" "1436" "0" "c.1436A>G" "r.(?)" "p.(Tyr479Cys)" "" "0000854267" "00023854" "10" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Gly499Ser)" "" "0000854268" "00023854" "10" "2603" "20" "2603" "20" "c.2603+20C>A" "r.(=)" "p.(=)" "" "0000854269" "00023854" "30" "2790" "-5" "2790" "-5" "c.2790-5C>T" "r.spl?" "p.?" "" "0000854270" "00023854" "10" "3189" "0" "3189" "0" "c.3189C>T" "r.(?)" "p.(Asn1063=)" "" "0000854271" "00023854" "30" "4777" "16" "4777" "16" "c.4777+16C>T" "r.(=)" "p.(=)" "" "0000854272" "00023854" "30" "4779" "0" "4779" "0" "c.4779G>A" "r.(?)" "p.(Glu1593=)" "" "0000854273" "00023854" "10" "5253" "0" "5253" "0" "c.5253C>T" "r.(?)" "p.(Asn1751=)" "" "0000854274" "00023854" "30" "5832" "0" "5832" "0" "c.5832C>T" "r.(?)" "p.(His1944=)" "" "0000854275" "00023854" "10" "6934" "0" "6934" "0" "c.6934A>G" "r.(?)" "p.(Met2312Val)" "" "0000864286" "00023854" "30" "4287" "0" "4287" "0" "c.4287C>A" "r.(?)" "p.(Pro1429=)" "" "0000864287" "00023854" "30" "4759" "13" "4759" "13" "c.4759+13C>T" "r.(=)" "p.(=)" "" "0000864288" "00023854" "50" "5024" "0" "5024" "0" "c.5024G>A" "r.(?)" "p.(Arg1675Gln)" "" "0000864289" "00023854" "30" "5039" "17" "5039" "17" "c.5039+17C>T" "r.(=)" "p.(=)" "" "0000864290" "00023854" "50" "5173" "0" "5173" "0" "c.5173G>C" "r.(?)" "p.(Val1725Leu)" "" "0000864291" "00023854" "10" "5988" "0" "5988" "0" "c.5988C>T" "r.(?)" "p.(His1996=)" "" "0000864292" "00023854" "30" "14742" "0" "14742" "0" "c.*7680G>A" "r.(=)" "p.(=)" "" "0000892502" "00023854" "30" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Ala60=)" "" "0000892503" "00023854" "30" "299" "14" "299" "14" "c.299+14C>G" "r.(=)" "p.(=)" "" "0000892504" "00023854" "30" "314" "0" "314" "0" "c.314T>G" "r.(?)" "p.(Val105Gly)" "" "0000892505" "00023854" "30" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Ile305=)" "" "0000892506" "00023854" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Asn412=)" "" "0000892507" "00023854" "30" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Cys)" "" "0000892508" "00023854" "30" "2604" "-5" "2604" "-5" "c.2604-5C>T" "r.spl?" "p.?" "" "0000892509" "00023854" "30" "3261" "0" "3261" "0" "c.3261C>A" "r.(?)" "p.(Thr1087=)" "" "0000892510" "00023854" "30" "3605" "0" "3605" "0" "c.3605G>A" "r.(?)" "p.(Arg1202Gln)" "" "0000892511" "00023854" "10" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Phe1545=)" "" "0000892512" "00023854" "30" "5295" "0" "5295" "0" "c.5295G>A" "r.(?)" "p.(Ala1765=)" "" "0000892513" "00023854" "30" "5427" "0" "5427" "0" "c.5427C>T" "r.(?)" "p.(Asn1809=)" "" "0000892514" "00023854" "30" "5675" "0" "5675" "0" "c.5675G>T" "r.(?)" "p.(Arg1892Leu)" "" "0000892515" "00023854" "30" "5840" "0" "5840" "0" "c.5840C>T" "r.(?)" "p.(Pro1947Leu)" "" "0000892516" "00023854" "30" "6222" "0" "6222" "0" "c.6222C>T" "r.(?)" "p.(Phe2074=)" "" "0000892517" "00023854" "30" "6273" "0" "6273" "0" "c.6273C>T" "r.(?)" "p.(Ala2091=)" "" "0000892518" "00023854" "30" "6579" "0" "6579" "0" "c.6579G>A" "r.(?)" "p.(Ser2193=)" "" "0000892519" "00023854" "30" "6721" "0" "6721" "0" "c.6721G>A" "r.(?)" "p.(Gly2241Arg)" "" "0000892520" "00023854" "30" "6848" "0" "6848" "0" "c.6848A>T" "r.(?)" "p.(Asp2283Val)" "" "0000914448" "00023854" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Pro306=)" "" "0000914449" "00023854" "30" "1359" "0" "1359" "0" "c.1359T>C" "r.(?)" "p.(Pro453=)" "" "0000914450" "00023854" "30" "2544" "0" "2544" "0" "c.2544C>A" "r.(?)" "p.(Gly848=)" "" "0000914451" "00023854" "30" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Glu1197Lys)" "" "0000914452" "00023854" "30" "4420" "0" "4420" "0" "c.4420C>T" "r.(?)" "p.(Arg1474Trp)" "" "0000914453" "00023854" "30" "5173" "10" "5173" "10" "c.5173+10C>T" "r.(=)" "p.(=)" "" "0000914454" "00023854" "30" "5655" "0" "5655" "0" "c.5655G>A" "r.(?)" "p.(Ala1885=)" "" "0000914455" "00023854" "10" "6939" "0" "6939" "0" "c.6939C>T" "r.(?)" "p.(Pro2313=)" "" "0000926114" "00023854" "30" "299" "14" "299" "20" "c.299+14_299+20del" "r.(=)" "p.(=)" "" "0000926115" "00023854" "30" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000926116" "00023854" "30" "1212" "18" "1212" "18" "c.1212+18T>C" "r.(=)" "p.(=)" "" "0000926117" "00023854" "30" "2269" "0" "2269" "0" "c.2269G>C" "r.(?)" "p.(Gly757Arg)" "" "0000926118" "00023854" "30" "4038" "12" "4038" "12" "c.4038+12C>T" "r.(=)" "p.(=)" "" "0000926119" "00023854" "30" "4038" "15" "4038" "15" "c.4038+15G>T" "r.(=)" "p.(=)" "" "0000926120" "00023854" "30" "4714" "0" "4714" "0" "c.4714C>T" "r.(?)" "p.(Arg1572Trp)" "" "0000926121" "00023854" "30" "4932" "0" "4932" "0" "c.4932G>A" "r.(?)" "p.(Ser1644=)" "" "0000926122" "00023854" "10" "6543" "0" "6543" "0" "c.6543G>A" "r.(?)" "p.(Ala2181=)" "" "0000930497" "00023854" "30" "4223" "8" "4223" "8" "c.4223+8dup" "r.(=)" "p.(=)" "" "0000930498" "00023854" "30" "4584" "0" "4584" "0" "c.4584C>T" "r.(?)" "p.(=)" "" "0000930499" "00023854" "30" "6002" "0" "6002" "0" "c.6002G>A" "r.(?)" "p.(Arg2001Gln)" "" "0000936333" "00023854" "50" "6703" "0" "6703" "0" "c.6703A>G" "r.(?)" "p.(Thr2235Ala)" "" "0000950504" "00023854" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(=)" "" "0000950505" "00023854" "30" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(=)" "" "0000950506" "00023854" "30" "3617" "0" "3617" "0" "c.3617C>T" "r.(?)" "p.(Pro1206Leu)" "" "0000950507" "00023854" "30" "5173" "18" "5173" "18" "c.5173+18C>T" "r.(=)" "p.(=)" "" "0000968083" "00023854" "50" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Phe238Cys)" "" "0000968085" "00023854" "30" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(=)" "" "0000968086" "00023854" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(=)" "" "0000968087" "00023854" "30" "2452" "-7" "2452" "-7" "c.2452-7C>T" "r.(=)" "p.(=)" "" "0000968088" "00023854" "30" "2631" "0" "2631" "0" "c.2631C>T" "r.(?)" "p.(=)" "" "0000968089" "00023854" "50" "3059" "0" "3059" "0" "c.3059C>A" "r.(?)" "p.(Ala1020Glu)" "" "0000968090" "00023854" "30" "3364" "-3" "3364" "-3" "c.3364-3C>T" "r.spl?" "p.?" "" "0000968091" "00023854" "30" "5675" "0" "5675" "0" "c.5675G>A" "r.(?)" "p.(Arg1892His)" "" "0000968092" "00023854" "30" "6049" "-10" "6049" "-10" "c.6049-10G>A" "r.(=)" "p.(=)" "" "0000981565" "00023854" "30" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Ala60=)" "" "0000981566" "00023854" "30" "314" "0" "314" "0" "c.314T>G" "r.(?)" "p.(Val105Gly)" "" "0000981567" "00023854" "50" "509" "0" "509" "0" "c.509C>A" "r.(?)" "p.(Thr170Lys)" "" "0000981568" "00023854" "30" "713" "0" "713" "0" "c.713T>G" "r.(?)" "p.(Phe238Cys)" "" "0000981569" "00023854" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Arg259Cys)" "" "0000981571" "00023854" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Thr273=)" "" "0000981572" "00023854" "30" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Glu320Lys)" "" "0000981573" "00023854" "30" "1120" "-10" "1120" "-10" "c.1120-10G>T" "r.(=)" "p.(=)" "" "0000981574" "00023854" "50" "1421" "0" "1421" "0" "c.1421G>C" "r.(?)" "p.(Arg474Pro)" "" "0000981575" "00023854" "30" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(Pro585Ser)" "" "0000981576" "00023854" "30" "1778" "0" "1789" "0" "c.1778_1789del" "r.(?)" "p.(His593_Thr597delinsPro)" "" "0000981577" "00023854" "30" "2145" "0" "2145" "0" "c.2145C>T" "r.(?)" "p.(=)" "" "0000981578" "00023854" "30" "2329" "0" "2329" "0" "c.2329C>T" "r.(?)" "p.(Arg777Cys)" "" "0000981579" "00023854" "50" "2630" "0" "2630" "0" "c.2630A>G" "r.(?)" "p.(Asp877Gly)" "" "0000981580" "00023854" "30" "2715" "0" "2715" "0" "c.2715C>T" "r.(?)" "p.(=)" "" "0000981581" "00023854" "30" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Val906Met)" "" "0000981582" "00023854" "30" "4156" "0" "4156" "0" "c.4156G>A" "r.(?)" "p.(Ala1386Thr)" "" "0000981583" "00023854" "30" "4350" "6" "4350" "6" "c.4350+6T>C" "r.(=)" "p.(=)" "" "0000981584" "00023854" "30" "4737" "0" "4737" "0" "c.4737G>A" "r.(?)" "p.(=)" "" "0000981585" "00023854" "50" "5619" "0" "5619" "0" "c.5619T>A" "r.(?)" "p.(Asp1873Glu)" "" "0000981586" "00023854" "50" "5620" "0" "5620" "0" "c.5620G>T" "r.(?)" "p.(Ala1874Ser)" "" "0000981587" "00023854" "30" "6049" "-3" "6049" "-3" "c.6049-3C>T" "r.spl?" "p.?" "" "0000981588" "00023854" "50" "6178" "0" "6178" "0" "c.6178C>T" "r.(?)" "p.(Arg2060Cys)" "" "0000981589" "00023854" "30" "6222" "0" "6222" "0" "c.6222C>T" "r.(?)" "p.(Phe2074=)" "" "0000981590" "00023854" "50" "6274" "0" "6274" "0" "c.6274G>A" "r.(?)" "p.(Glu2092Lys)" "" "0000981591" "00023854" "50" "6804" "0" "6804" "0" "c.6804T>G" "r.(?)" "p.(Phe2268Leu)" "" "0000981592" "00023854" "50" "6855" "0" "6855" "0" "c.6855C>A" "r.(?)" "p.(Ser2285Arg)" "" "0001001859" "00023854" "30" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Asp)" "" "0001001860" "00023854" "50" "299" "2" "299" "2" "c.299+2T>C" "r.spl?" "p.?" "" "0001001861" "00023854" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Thr376Met)" "" "0001001862" "00023854" "50" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Ile404Val)" "" "0001001863" "00023854" "50" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Cys)" "" "0001001864" "00023854" "50" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Ala545Thr)" "" "0001001865" "00023854" "30" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Pro618Leu)" "" "0001001866" "00023854" "30" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Ala876Thr)" "" "0001001867" "00023854" "50" "2990" "0" "2990" "0" "c.2990C>T" "r.(?)" "p.(Ala997Val)" "" "0001001868" "00023854" "50" "3086" "0" "3086" "0" "c.3086C>T" "r.(?)" "p.(Thr1029Met)" "" "0001001869" "00023854" "50" "3218" "0" "3218" "0" "c.3218C>G" "r.(?)" "p.(Ser1073Cys)" "" "0001001870" "00023854" "50" "3308" "0" "3308" "0" "c.3308C>A" "r.(?)" "p.(Ser1103Tyr)" "" "0001001871" "00023854" "50" "3469" "0" "3469" "0" "c.3469C>T" "r.(?)" "p.(Arg1157Cys)" "" "0001001872" "00023854" "30" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Pro1210Leu)" "" "0001001873" "00023854" "50" "3650" "0" "3650" "0" "c.3650G>A" "r.(?)" "p.(Arg1217His)" "" "0001001875" "00023854" "50" "5021" "0" "5021" "0" "c.5021G>C" "r.(?)" "p.(Arg1674Pro)" "" "0001001876" "00023854" "50" "5482" "0" "5482" "0" "c.5482T>C" "r.(?)" "p.(Cys1828Arg)" "" "0001001877" "00023854" "50" "5996" "0" "5996" "0" "c.5996C>T" "r.(?)" "p.(Ser1999Phe)" "" "0001001878" "00023854" "50" "6311" "0" "6325" "0" "c.6311_6325del" "r.(?)" "p.(Ile2104_Cys2109delinsSer)" "" "0001001879" "00023854" "30" "6398" "0" "6398" "0" "c.6398G>T" "r.(?)" "p.(Arg2133Leu)" "" "0001001880" "00023854" "50" "6503" "0" "6503" "0" "c.6503C>G" "r.(?)" "p.(Ala2168Gly)" "" "0001001881" "00023854" "30" "6713" "0" "6713" "0" "c.6713C>T" "r.(?)" "p.(Ser2238Leu)" "" "0001001882" "00023854" "30" "6936" "0" "6936" "0" "c.6936G>A" "r.(?)" "p.(Met2312Ile)" "" "0001011142" "00023854" "50" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Gly1448Asp)" "22" "0001015290" "00023854" "30" "6249" "0" "6249" "0" "c.6249G>A" "r.(?)" "p.(=)" "" "0001026561" "00023854" "30" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(=)" "" "0001040755" "00023854" "50" "346" "0" "346" "0" "c.346A>T" "r.(?)" "p.(Thr116Ser)" "" "0001040756" "00023854" "50" "454" "0" "454" "0" "c.454G>C" "r.(?)" "p.(Val152Leu)" "" "0001040757" "00023854" "50" "972" "0" "972" "0" "c.972G>T" "r.(?)" "p.(Gln324His)" "" "0001040758" "00023854" "50" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Ser451Phe)" "" "0001040759" "00023854" "30" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Ala824Val)" "" "0001040760" "00023854" "30" "5621" "0" "5621" "0" "c.5621C>T" "r.(?)" "p.(Ala1874Val)" "" "0001040761" "00023854" "50" "6487" "0" "6487" "0" "c.6487G>A" "r.(?)" "p.(Gly2163Arg)" "" "0001040762" "00023854" "30" "6850" "0" "6850" "0" "c.6850G>A" "r.(?)" "p.(Gly2284Ser)" "" "0001040763" "00023854" "30" "7996" "0" "7996" "0" "c.*934C>T" "r.(=)" "p.(=)" "" "0001055303" "00023854" "50" "2789" "5" "2789" "5" "c.2789+5G>A" "r.spl?" "p.?" "" "0001055304" "00023854" "30" "5144" "0" "5144" "0" "c.5144G>A" "r.(?)" "p.(Arg1715His)" "" "0001055305" "00023854" "50" "5236" "0" "5236" "0" "c.5236C>G" "r.(?)" "p.(Leu1746Val)" "" "0001055306" "00023854" "50" "5888" "-2" "5888" "-2" "c.5888-2A>G" "r.spl?" "p.?" "" "0001055307" "00023854" "50" "6397" "0" "6397" "0" "c.6397C>T" "r.(?)" "p.(Arg2133Cys)" "" "0001062844" "00023854" "50" "2908" "-1" "2908" "-1" "c.2908-1G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 78 "{{screeningid}}" "{{variantid}}" "0000035088" "0000062207" "0000035089" "0000062208" "0000035090" "0000062209" "0000035091" "0000062210" "0000035092" "0000062211" "0000035093" "0000062212" "0000035094" "0000062213" "0000035095" "0000062214" "0000035096" "0000062215" "0000035097" "0000062216" "0000035098" "0000062217" "0000035099" "0000062218" "0000035100" "0000062219" "0000035101" "0000062220" "0000035102" "0000062221" "0000035103" "0000062222" "0000035104" "0000062223" "0000035105" "0000062224" "0000035106" "0000062225" "0000035107" "0000062226" "0000035108" "0000062227" "0000035109" "0000062228" "0000035110" "0000062229" "0000035111" "0000062230" "0000035112" "0000062231" "0000035113" "0000062232" "0000035114" "0000062233" "0000035115" "0000062234" "0000035116" "0000062235" "0000035117" "0000062236" "0000035118" "0000062237" "0000035119" "0000062238" "0000035120" "0000062239" "0000035121" "0000062240" "0000035122" "0000062241" "0000035123" "0000062242" "0000035124" "0000062243" "0000035125" "0000062244" "0000035126" "0000062245" "0000035127" "0000062246" "0000035128" "0000062247" "0000035129" "0000062248" "0000035130" "0000062249" "0000035131" "0000062250" "0000035132" "0000062251" "0000035133" "0000062252" "0000035134" "0000062253" "0000035135" "0000062254" "0000035136" "0000062255" "0000035137" "0000062256" "0000147983" "0000241265" "0000151026" "0000244187" "0000151026" "0000244188" "0000182144" "0000406010" "0000211066" "0000442484" "0000292523" "0000649212" "0000292524" "0000649213" "0000292525" "0000649214" "0000292526" "0000649215" "0000292527" "0000649216" "0000292528" "0000649217" "0000292529" "0000649218" "0000292530" "0000649219" "0000292531" "0000649220" "0000297082" "0000659692" "0000297660" "0000660267" "0000305619" "0000669307" "0000307042" "0000673638" "0000335907" "0000734819" "0000375651" "0000787520" "0000375867" "0000787218" "0000375868" "0000787219" "0000375868" "0000787568" "0000375869" "0000787220" "0000375870" "0000787221" "0000375871" "0000787222" "0000440175" "0000936333" "0000456780" "0001011142"