### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1S) # 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}}" "CACNA1S" "calcium channel, voltage-dependent, L type, alpha 1S subunit" "1" "q32" "unknown" "NG_009816.2" "UD_132119034953" "" "https://www.LOVD.nl/CACNA1S" "" "1" "1397" "779" "114208" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. We gratefully acknowledge the work of Ieke Ginjaar (LUMC, Leiden) and Vincent Janmaat (LUMC, Leiden) submitting published variants to this gene variant database." "" "g" "https://databases.lovd.nl/shared/refseq/CACNA1S_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2007-09-18 00:00:00" "00006" "2021-10-05 15:00:15" "00000" "2025-07-19 19:55:02" ## 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}}" "00001372" "CACNA1S" "calcium channel, voltage-dependent, L type, alpha 1S subunit" "001" "NM_000069.2" "" "NP_000060.2" "" "" "" "-227" "5941" "5622" "201008640" "201081694" "00000" "2012-09-13 13:29:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01500" "HOKPP" "paralysis, hypokalemic, periodic (HOKPP)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-06-02 17:07:18" "01585" "TTPP1" "Thyrotoxic periodic paralysis" "AD" "188580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "02401" "MHS5" "hyperthermia, malignant, susceptibility, type 5 (MHS-5)" "AD" "601887" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05329" "myalgia" "myalgia" "" "" "" "" "" "00006" "2017-09-11 21:12:42" "" "" "05437" "HOKPP1" "paralysis, hypokalemic, periodic, type 1" "AD" "170400" "" "autosomal dominant" "" "00006" "2018-06-02 17:06:27" "00006" "2023-10-12 11:44:06" "05449" "MHS" "hyperthermia, malignant, susceptibility (MHS)" "" "" "" "" "" "00006" "2018-07-05 14:19:36" "00006" "2018-07-05 14:20:58" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "05713" "MYOCOZ" "myopathy, congenital with structured cores and Z-line abnormalitie (MYOCOZ)" "AD" "618654" "" "" "" "00006" "2020-03-29 14:08:06" "00006" "2020-05-03 14:14:32" "07109" "CMYO18" "myopathy, congenital, type 18, due to dihydropyridine receptor defect" "AD;AR" "620246" "" "" "" "00006" "2024-10-24 13:36:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "CACNA1S" "01500" "CACNA1S" "01585" "CACNA1S" "02401" "CACNA1S" "05437" "CACNA1S" "05449" "CACNA1S" "07109" ## Individuals ## Do not remove or alter this header ## ## Count = 119 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00035068" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035069" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035070" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035071" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035072" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035073" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035074" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035075" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035076" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035077" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035078" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035079" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035080" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035081" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035082" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035083" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035084" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035085" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035086" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035087" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035088" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035089" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035090" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035091" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035092" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035093" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035094" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035095" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035096" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035097" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035098" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035099" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035100" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035101" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035102" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035103" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035104" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035105" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035106" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035107" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035108" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035109" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035110" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035111" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035112" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035113" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035114" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00110686" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110687" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110688" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110689" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110690" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110691" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110692" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110693" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110694" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110695" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110696" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110697" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110698" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110699" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110700" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110701" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110702" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110703" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110704" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110705" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110706" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110707" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110708" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110709" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110710" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110711" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110712" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110713" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110714" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110715" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110716" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110717" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110718" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110719" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110720" "" "" "" "1" "" "00006" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00110721" "" "" "" "1" "" "00006" "Elbaz 1995" "" "" "" "" "" "0" "" "" "" "" "00110722" "" "" "" "1" "" "00006" "Houinato 2007" "The proband was a 19 years old man. Paralytic attacks began at age 17, had a frequency of two times a year and spontaneously regressed within 2?4 days. His mother and uncle were known to have a similar disorder. The fourth attack leading to the diagnosis" "" "" "" "" "0" "" "" "" "" "00110724" "" "" "" "1" "" "00006" "Jurkat-rott 1994" "" "" "" "" "" "0" "" "" "" "" "00110725" "" "" "" "1" "" "00006" "Jurkat-rott 2000" "" "" "" "" "" "0" "" "" "" "" "00110726" "" "" "" "1" "" "00006" "Kim 2001" "" "" "" "" "" "0" "" "" "" "" "00110727" "" "" "" "1" "" "00006" "Meyer 2007" "The index patient (II:4, Fig. 1), a 67-year-old man, was born to unrelated parents. At age 17 he developed period paralysis which was responsive to potassium administration. Permanent residual weakness began at the age of 50 with proximal weakness of the" "" "" "" "" "0" "" "" "" "" "00110728" "" "" "" "1" "" "00006" "Monnier 2000" "The proband died after injection with suxamethonium and administration of isoflurane after 90 minutes hyperthermia was observed and although isoflurane was stopped the patient died of cardiac arrest." "" "" "" "" "0" "" "" "" "" "00110729" "" "" "" "1" "" "00006" "Ptacek 1994" "" "" "" "" "" "0" "" "" "" "" "00110730" "" "" "" "1" "" "00006" "Wang 2005" "The proband is a 53-year-old male, first total muscle weakness attack at the age of 16. The attacks usually occur after excessive intake of carbohydrate-rich meals, several hours following strenuous exercise, after sudden exposure" "" "" "" "" "0" "" "" "" "" "00174767" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "" "M" "" "Poland" "" "0" "" "" "" "Pat901;B10" "00289645" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289646" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289647" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289648" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289649" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289650" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289651" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295238" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300292" "" "" "" "1" "" "03661" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00304175" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305335" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307202" "" "" "" "2" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "family, 2 affected siblings" "" "" "Australia" "" "0" "" "" "" "D16-0750" "00309949" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00314066" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00397688" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "190365" "00413103" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P27/Myo089" "00419475" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9056" "00419476" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20058" "00435552" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "2-generation family, unaffected non-carrier parents, no affected relatives" "M" "" "" "" "0" "" "" "" "Pat38" "00437023" "" "" "" "1" "" "04582" "" "" "" "" "" "" "" "" "" "" "" "00442741" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat113" "00442742" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat114" "00442768" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat140" "00442799" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat171" "00456113" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "270018" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 80 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00035071" "01926" "00035072" "00198" "00035074" "00198" "00035077" "00198" "00035080" "00198" "00035098" "00198" "00035103" "00198" "00035106" "00198" "00110686" "00198" "00110687" "00198" "00110688" "00198" "00110689" "00198" "00110690" "00198" "00110691" "00198" "00110692" "00198" "00110693" "00198" "00110694" "00198" "00110695" "00198" "00110696" "00198" "00110697" "00198" "00110698" "00198" "00110699" "00198" "00110700" "00198" "00110701" "00198" "00110702" "00198" "00110703" "00198" "00110704" "00198" "00110705" "00198" "00110706" "00198" "00110707" "00198" "00110708" "00198" "00110709" "00198" "00110710" "00198" "00110711" "00198" "00110712" "00198" "00110713" "00198" "00110714" "00198" "00110715" "00198" "00110716" "00198" "00110717" "00198" "00110718" "00198" "00110719" "00198" "00110720" "00198" "00110721" "01500" "00110722" "01500" "00110724" "01500" "00110725" "01500" "00110726" "01500" "00110727" "01500" "00110728" "02401" "00110729" "01500" "00110730" "01500" "00174767" "05126" "00289645" "00198" "00289646" "00198" "00289647" "00198" "00289648" "00198" "00289649" "00198" "00289650" "00198" "00289651" "00198" "00295238" "00198" "00300292" "05713" "00304175" "00198" "00305335" "00198" "00307202" "01666" "00309949" "00198" "00314066" "05126" "00397688" "02401" "00413103" "00244" "00419475" "00198" "00419476" "00198" "00435552" "05611" "00437023" "05437" "00442741" "05618" "00442742" "05618" "00442768" "05618" "00442799" "05618" "00456113" "05329" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01157, 01500, 01585, 01666, 01926, 02401, 05126, 05329, 05437, 05449, 05611, 05618, 05713, 07109 ## Count = 34 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000087197" "01500" "00110730" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087199" "01500" "00110724" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087200" "01500" "00110727" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087201" "01500" "00110726" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087202" "01500" "00110725" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087203" "02401" "00110728" "00006" "Unknown" "" "Malignant hyperthermia" "" "" "" "" "" "" "" "" "" "" "" "0000087204" "01500" "00110729" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087205" "01500" "00110721" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000087206" "01500" "00110722" "00006" "Unknown" "" "Hypokalaemic periodic paralysis" "" "" "" "" "" "" "" "" "" "" "" "0000139594" "05126" "00174767" "00006" "Isolated (sporadic)" "41y" "onset overt symptoms adulthood; CPK raised 1.9x; progressive limb-girdle weakness; generalized muscle atrophy; scapular winging, mild distal upper limb weakness; waddling gait with knee hyperextension" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000156011" "01926" "00035071" "01164" "Unknown" "" "myalgia (belastungsabhängig), muscle stiffness" "" "" "" "" "" "" "" "" "" "myalgia" "" "0000156012" "00198" "00035072" "01164" "Unknown" "" "suspected hyper/hypokaliaemic paralysis; Elektrolytkanalstörung" "" "" "" "" "" "" "" "" "" "hyperkalemic paralysis?" "" "0000156013" "00198" "00035074" "01164" "Unknown" "" "hypokaliaemic paralysis" "" "" "" "" "" "" "" "" "" "hyperkalaemic paralysis" "" "0000156014" "00198" "00035077" "01164" "Unknown" "" "episodic hypokaliaemic paralysis at night after eating carbohydrate" "" "" "" "" "" "" "" "" "" "episodic hypokaliaemic paralysis" "" "0000156015" "00198" "00035080" "01164" "Unknown" "" "suspected myopathy/myotonia" "" "" "" "" "" "" "" "" "" "myoapthy?" "" "0000156016" "00198" "00035098" "01164" "Unknown" "" "episodic hypokaliaemic paralysis at night after eating carbohydrate" "" "" "" "" "" "" "" "" "" "episodic hypokaliaemic paralysis" "" "0000156017" "00198" "00035103" "01164" "Unknown" "" "hypokaliaemic periodical paralysis" "" "" "" "" "" "" "" "" "" "hyperkalaemic periodic paralysis" "" "0000156018" "00198" "00035106" "01164" "Unknown" "" "suspected myopathy/myotonia" "" "" "" "" "" "" "" "" "" "myoapthy?" "" "0000227601" "03629" "00300292" "03661" "Unknown" "61y" "pectus excavatum, ptosis, fatigue, muscle hypotrophy" "50y" "61y" "15y" "" "" "" "" "" "congenital myopathy" "" "" "0000233007" "01666" "00307202" "00534" "Familial, autosomal recessive" "" "antenatal onset; talipes; polyhydramnios" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" "" "0000235266" "00198" "00309949" "01164" "Unknown" "" "Hypocalcemia (HP:0002901); Periodic hypokalemic paresis (HP:0008153)" "" "" "" "" "" "" "" "" "" "" "" "0000290815" "02401" "00397688" "01164" "Unknown" "35y" "Malignant hyperthermia" "" "" "" "" "" "" "" "" "" "" "" "0000305084" "00244" "00413103" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "LEMS" "limb-girdle muscular weakness, CMS" "" "0000310756" "00198" "00419475" "02300" "Isolated (sporadic)" "21y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000310757" "00198" "00419476" "02300" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000325739" "05611" "00435552" "00006" "Isolated (sporadic)" "6y" "see paper; ..., maternal hypertension, placenta insufficiency; birth 40w+1d; language/speech delay; motor delay, 30m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; soft skin; synophris, broad forehead, long uvula.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, difficulties with breast feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypotonia/hyperlaxity was that severe a muscle panel was performed; CK normal;" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000326942" "05437" "00437023" "04582" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000332088" "05618" "00442741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital limb-girdle and facio-bulbar muscle weakness" "" "0000332089" "05618" "00442742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb girdle muscle weakenss" "" "0000332115" "05618" "00442768" "00006" "Unknown" "" "Distal muscle weakness, hyperCKaemia" "" "" "" "" "" "" "" "" "" "distal muscle weakness" "" "0000332146" "05618" "00442799" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital myasthenic syndrome" "" "0000344632" "05329" "00456113" "01164" "Unknown" "25y" "Rhabdomyolysis, Elevated circulating creatine kinase concentration; Metabolic myopathy, rhabdomyolysis, CK up to 50000 U/l, exercise-induced myalgia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 119 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000035138" "00035068" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035139" "00035069" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035140" "00035070" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035141" "00035071" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035142" "00035072" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035143" "00035073" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035144" "00035074" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035145" "00035075" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035146" "00035076" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035147" "00035077" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035148" "00035078" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035149" "00035079" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035150" "00035080" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035151" "00035081" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035152" "00035082" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035153" "00035083" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035154" "00035084" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035155" "00035085" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035156" "00035086" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035157" "00035087" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035158" "00035088" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035159" "00035089" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035160" "00035090" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035161" "00035091" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035162" "00035092" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035163" "00035093" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035164" "00035094" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035165" "00035095" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035166" "00035096" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035167" "00035097" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035168" "00035098" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035169" "00035099" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035170" "00035100" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035171" "00035101" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035172" "00035102" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035173" "00035103" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035174" "00035104" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035175" "00035105" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035176" "00035106" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035177" "00035107" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035178" "00035108" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035179" "00035109" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035180" "00035110" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035181" "00035111" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035182" "00035112" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035183" "00035113" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035184" "00035114" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000111152" "00110686" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111153" "00110687" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111154" "00110688" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111155" "00110689" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111156" "00110690" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111157" "00110691" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111158" "00110692" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111159" "00110693" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111160" "00110694" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111161" "00110695" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111162" "00110696" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111163" "00110697" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111164" "00110698" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111165" "00110699" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111166" "00110700" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111167" "00110701" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111168" "00110702" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111169" "00110703" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111170" "00110704" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111171" "00110705" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111172" "00110706" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111173" "00110707" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111174" "00110708" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111175" "00110709" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111176" "00110710" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111177" "00110730" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111179" "00110724" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111180" "00110727" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111181" "00110726" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111182" "00110711" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111183" "00110712" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111184" "00110713" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111185" "00110714" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111186" "00110725" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111187" "00110728" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111188" "00110715" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111189" "00110729" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111190" "00110721" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111191" "00110722" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111192" "00110716" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111193" "00110717" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111194" "00110718" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111195" "00110719" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000111196" "00110720" "1" "00006" "00006" "2007-09-18 12:00:00" "" "" "SEQ" "DNA" "" "" "0000175658" "00174767" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000290813" "00289645" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290814" "00289646" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290815" "00289647" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290816" "00289648" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290817" "00289649" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290818" "00289650" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290819" "00289651" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296406" "00295238" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301411" "00300292" "1" "03661" "03661" "2020-04-28 17:54:22" "" "" "PCR" "DNA" "Blood" "" "0000305304" "00304175" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306464" "00305335" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308344" "00307202" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000311097" "00309949" "1" "01164" "01164" "2020-09-07 13:52:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000315239" "00314066" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398929" "00397688" "1" "01164" "01164" "2021-12-28 15:27:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000414373" "00413103" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420779" "00419475" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420780" "00419476" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000437031" "00435552" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000438507" "00437023" "1" "04582" "04582" "2023-10-12 10:08:13" "" "" "SEQ-NG" "DNA" "" "" "0000444225" "00442741" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444226" "00442742" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444252" "00442768" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444283" "00442799" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000457730" "00456113" "1" "01164" "01164" "2024-10-23 15:39:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 97 "{{screeningid}}" "{{geneid}}" "0000035138" "CACNA1S" "0000035139" "CACNA1S" "0000035140" "CACNA1S" "0000035141" "CACNA1S" "0000035142" "CACNA1S" "0000035143" "CACNA1S" "0000035144" "CACNA1S" "0000035145" "CACNA1S" "0000035146" "CACNA1S" "0000035147" "CACNA1S" "0000035148" "CACNA1S" "0000035149" "CACNA1S" "0000035150" "CACNA1S" "0000035151" "CACNA1S" "0000035152" "CACNA1S" "0000035153" "CACNA1S" "0000035154" "CACNA1S" "0000035155" "CACNA1S" "0000035156" "CACNA1S" "0000035157" "CACNA1S" "0000035158" "CACNA1S" "0000035159" "CACNA1S" "0000035160" "CACNA1S" "0000035161" "CACNA1S" "0000035162" "CACNA1S" "0000035163" "CACNA1S" "0000035164" "CACNA1S" "0000035165" "CACNA1S" "0000035166" "CACNA1S" "0000035167" "CACNA1S" "0000035168" "CACNA1S" "0000035169" "CACNA1S" "0000035170" "CACNA1S" "0000035171" "CACNA1S" "0000035172" "CACNA1S" "0000035173" "CACNA1S" "0000035174" "CACNA1S" "0000035175" "CACNA1S" "0000035176" "CACNA1S" "0000035177" "CACNA1S" "0000035178" "CACNA1S" "0000035179" "CACNA1S" "0000035180" "CACNA1S" "0000035181" "CACNA1S" "0000035182" "CACNA1S" "0000035183" "CACNA1S" "0000035184" "CACNA1S" "0000111152" "CACNA1S" "0000111153" "CACNA1S" "0000111154" "CACNA1S" "0000111155" "CACNA1S" "0000111156" "CACNA1S" "0000111157" "CACNA1S" "0000111158" "CACNA1S" "0000111159" "CACNA1S" "0000111160" "CACNA1S" "0000111161" "CACNA1S" "0000111162" "CACNA1S" "0000111163" "CACNA1S" "0000111164" "CACNA1S" "0000111165" "CACNA1S" "0000111166" "CACNA1S" "0000111167" "CACNA1S" "0000111168" "CACNA1S" "0000111169" "CACNA1S" "0000111170" "CACNA1S" "0000111171" "CACNA1S" "0000111172" "CACNA1S" "0000111173" "CACNA1S" "0000111174" "CACNA1S" "0000111175" "CACNA1S" "0000111176" "CACNA1S" "0000111177" "CACNA1S" "0000111179" "CACNA1S" "0000111180" "CACNA1S" "0000111181" "CACNA1S" "0000111182" "CACNA1S" "0000111183" "CACNA1S" "0000111184" "CACNA1S" "0000111185" "CACNA1S" "0000111186" "CACNA1S" "0000111187" "CACNA1S" "0000111188" "CACNA1S" "0000111189" "CACNA1S" "0000111190" "CACNA1S" "0000111191" "CACNA1S" "0000111192" "CACNA1S" "0000111193" "CACNA1S" "0000111194" "CACNA1S" "0000111195" "CACNA1S" "0000111196" "CACNA1S" "0000301411" "CACNA1S" "0000308344" "CACNA1S" "0000315239" "CACNA1S" "0000398929" "CACNA1S" "0000438507" "CACNA1S" "0000457730" "CACNA1S" ## 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 = 312 "{{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}}" "0000003541" "0" "50" "1" "201020105" "201020105" "subst" "0.774011" "00037" "CACNA1S_000027" "g.201020105A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.201050977A>G" "" "VUS" "" "0000003542" "3" "50" "1" "201047075" "201047075" "subst" "0.578931" "00037" "CACNA1S_000004" "g.201047075A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.201077947A>G" "" "VUS" "" "0000011519" "0" "50" "1" "201020105" "201020105" "subst" "0.774011" "00037" "CACNA1S_000027" "g.201020105A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.201050977A>G" "" "VUS" "" "0000011520" "3" "50" "1" "201046388" "201046388" "subst" "0" "00037" "CACNA1S_000045" "g.201046388A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.201077260A>G" "" "VUS" "" "0000062257" "1" "50" "1" "201079344" "201079344" "subst" "0.0365403" "01164" "CACNA1S_000055" "g.201079344G>C" "" "" "" "" "poss. damaging (Polyphen:PSIC:0,841)" "Germline" "" "rs12406479" "0" "" "" "g.201110216G>C" "" "VUS" "" "0000062258" "1" "10" "1" "201035087" "201035087" "subst" "0.0371373" "01164" "CACNA1S_000034" "g.201035087G>A" "" "" "" "" "" "Germline" "" "rs113792034" "0" "" "" "g.201065959G>A" "" "benign" "" "0000062259" "1" "50" "1" "201042836" "201042836" "subst" "0" "01164" "CACNA1S_000041" "g.201042836A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201073708A>C" "" "VUS" "" "0000062260" "1" "10" "1" "201028299" "201028299" "subst" "0.0146233" "01164" "CACNA1S_000032" "g.201028299G>A" "" "" "" "" "" "Germline" "" "rs56021911" "0" "" "" "g.201059171G>A" "" "benign" "" "0000062261" "1" "50" "1" "201021753" "201021753" "subst" "0" "01164" "CACNA1S_000028" "g.201021753C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201052625C>T" "" "VUS" "" "0000062262" "1" "50" "1" "201038509" "201038509" "subst" "0" "01164" "CACNA1S_000037" "g.201038509G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201069381G>A" "" "VUS" "" "0000062263" "1" "50" "1" "201022496" "201022496" "subst" "0" "01164" "CACNA1S_000031" "g.201022496C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053368C>A" "" "VUS" "" "0000062264" "1" "10" "1" "201058513" "201058513" "subst" "0.00788297" "01164" "CACNA1S_000051" "g.201058513C>T" "" "" "" "" "" "Germline" "" "rs35534614" "0" "" "" "g.201089385C>T" "" "benign" "" "0000062265" "1" "10" "1" "201010624" "201010624" "subst" "0.000538459" "01164" "CACNA1S_000021" "g.201010624G>A" "" "" "" "" "" "Germline" "" "rs114243233" "0" "" "" "g.201041496G>A" "" "benign" "" "0000062266" "1" "50" "1" "201079421" "201079421" "subst" "0" "01164" "CACNA1S_000056" "g.201079421C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201110293C>T" "" "VUS" "" "0000062267" "1" "10" "1" "201041868" "201041868" "subst" "0.000601763" "01164" "CACNA1S_000039" "g.201041868C>T" "" "" "" "" "" "Germline" "" "rs192276596" "0" "" "" "g.201072740C>T" "" "benign" "" "0000062268" "1" "10" "1" "201052310" "201052310" "subst" "0.240073" "01164" "CACNA1S_000047" "g.201052310A>T" "" "" "" "" "" "Germline" "" "rs12742169" "0" "" "" "g.201083182A>T" "" "benign" "" "0000062269" "1" "10" "1" "201043627" "201043627" "subst" "0.0261369" "01164" "CACNA1S_000042" "g.201043627C>A" "" "" "" "" "" "Germline" "" "rs41267503" "0" "" "" "g.201074499C>A" "" "benign" "" "0000062270" "1" "90" "1" "201047043" "201047043" "subst" "0" "01164" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "HGMD" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000062271" "1" "10" "1" "201044748" "201044748" "subst" "0.78199" "01164" "CACNA1S_000043" "g.201044748A>G" "" "" "" "" "" "Germline" "" "rs1998721" "0" "" "" "g.201075620A>G" "" "benign" "" "0000062272" "1" "10" "1" "201046025" "201046025" "subst" "0.0596254" "01164" "CACNA1S_000044" "g.201046025G>T" "" "" "" "" "" "Germline" "" "rs7549030" "0" "" "" "g.201076897G>T" "" "benign" "" "0000062273" "1" "10" "1" "201047062" "201047062" "subst" "0.209728" "01164" "CACNA1S_000005" "g.201047062G>A" "" "" "" "" "" "Germline" "" "rs4915476" "0" "" "" "g.201077934G>A" "" "benign" "" "0000062274" "1" "10" "1" "201047075" "201047075" "subst" "0.578931" "01164" "CACNA1S_000004" "g.201047075A>G" "" "" "" "" "" "Germline" "" "rs4915477" "0" "" "" "g.201077947A>G" "" "benign" "" "0000062275" "1" "10" "1" "201047111" "201047111" "subst" "0.241655" "01164" "CACNA1S_000003" "g.201047111A>G" "" "" "" "" "" "Germline" "" "rs9427714" "0" "" "" "g.201077983A>G" "" "benign" "" "0000062276" "1" "10" "1" "201052283" "201052283" "subst" "0.0446869" "01164" "CACNA1S_000046" "g.201052283G>A" "" "" "" "" "" "Germline" "" "rs3767512" "0" "" "" "g.201083155G>A" "" "benign" "" "0000062277" "1" "10" "1" "201042618" "201042618" "subst" "0" "01164" "CACNA1S_000040" "g.201042618G>A" "" "" "" "" "" "Germline" "" "rs10920105" "0" "" "" "g.201073490G>A" "" "benign" "" "0000062278" "1" "10" "1" "201052312" "201052312" "subst" "0.240075" "01164" "CACNA1S_000048" "g.201052312A>C" "" "" "" "" "" "Germline" "" "rs12742170" "0" "" "" "g.201083184A>C" "" "benign" "" "0000062279" "1" "10" "1" "201052474" "201052474" "subst" "0.241154" "01164" "CACNA1S_000049" "g.201052474T>C" "" "" "" "" "" "Germline" "" "rs12724643" "0" "" "" "g.201083346T>C" "" "benign" "" "0000062280" "1" "10" "1" "201054197" "201054197" "subst" "0.158274" 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"201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178233" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178234" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178235" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178236" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178237" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178238" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178239" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178240" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178241" "3" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178242" "0" "99" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "pathogenic" "" "0000178243" "0" "99" "1" "201029944" "201029944" "subst" "2.03082E-5" "00006" "CACNA1S_000008" "g.201029944G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201060816G>A" "" "pathogenic" "" "0000178244" "0" "99" "1" "201029943" "201029943" "subst" "4.06144E-6" "00006" "CACNA1S_000009" "g.201029943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201060815C>T" "" "pathogenic" "" "0000178245" "0" "11" "1" "201029939" "201029939" "subst" "0.00886512" "00006" "CACNA1S_000010" "g.201029939T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201060811T>C" "" "benign" "" "0000178246" "0" "99" "1" "201022667" "201022667" "subst" "0" "00006" "CACNA1S_000011" "g.201022667G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053539G>C" "" "pathogenic" "" "0000178247" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178248" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178249" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178250" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178251" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178252" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178253" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178254" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178255" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178256" "0" "99" "1" "201022666" "201022666" "subst" "0" "00006" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000178257" "0" "99" "1" "201022584" "201022584" "subst" "0.00198629" "00006" "CACNA1S_000013" "g.201022584C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201053456C>T" "" "pathogenic" "" "0000248477" "0" "10" "1" "201038687" "201038687" "subst" "0.331439" "02325" "CACNA1S_000038" "g.201038687A>G" "" "" "" "CACNA1S(NM_000069.3):c.2403T>C (p.F801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201069559A>G" "" "benign" "" "0000248478" "0" "10" "1" "201047075" "201047075" "subst" "0.578931" "02325" "CACNA1S_000004" "g.201047075A>G" "" "" "" "CACNA1S(NM_000069.3):c.1551T>C (p.G517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077947A>G" "" "benign" "" "0000248479" "0" "10" "1" "201047111" "201047111" "subst" "0.241655" "02325" "CACNA1S_000003" "g.201047111A>G" "" "" "" "CACNA1S(NM_000069.3):c.1515T>C (p.C505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077983A>G" "" "benign" "" "0000248831" "0" "10" "1" "201052310" "201052310" "subst" "0.240073" "02325" "CACNA1S_000047" "g.201052310A>T" "" "" "" "CACNA1S(NM_000069.3):c.1373T>A (p.L458H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201083182A>T" "" "benign" "" "0000248965" "0" "10" "1" "201020105" "201020105" "subst" "0.774011" "02325" "CACNA1S_000027" "g.201020105A>G" "" "" "" "CACNA1S(NM_000069.3):c.4113+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201050977A>G" "" "benign" "" "0000248966" "0" "10" "1" "201044748" "201044748" "subst" "0.78199" "02325" "CACNA1S_000043" "g.201044748A>G" "" "" "" "CACNA1S(NM_000069.3):c.1828-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201075620A>G" "" "benign" "" "0000251202" "0" "10" "1" "201031059" "201031059" "subst" "0.018014" "02326" "CACNA1S_000033" "g.201031059A>G" "" "" "" "CACNA1S(NM_000069.2):c.3053+13T>C (p.(=)), CACNA1S(NM_000069.3):c.3053+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201061931A>G" "" "benign" "" "0000266454" "0" "10" "1" "201012597" "201012597" "subst" "0.10558" "02325" "CACNA1S_000023" "g.201012597G>A" "" "" "" "CACNA1S(NM_000069.3):c.4860C>T (p.P1620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201043469G>A" "" "benign" "" "0000269655" "0" "30" "1" "201043627" "201043627" "subst" "0.0261369" "02326" "CACNA1S_000042" "g.201043627C>A" "" "" "" "CACNA1S(NM_000069.2):c.2063+7G>T (p.(=)), CACNA1S(NM_000069.3):c.2063+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201074499C>A" "" "likely benign" "" "0000269656" "0" "30" "1" "201023671" "201023671" "subst" "0.000437042" "02326" "CACNA1S_000062" "g.201023671C>T" "" "" "" "CACNA1S(NM_000069.3):c.3628G>A (p.G1210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201054543C>T" "" "likely benign" "" "0000269657" "0" "10" "1" "201022411" "201022411" "subst" "0.0157537" "02326" "CACNA1S_000030" "g.201022411C>T" "" "" "" "CACNA1S(NM_000069.2):c.3796-9G>A (p.(=)), CACNA1S(NM_000069.3):c.3796-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201053283C>T" "" "benign" "" "0000269658" "0" "30" "1" "201020165" "201020165" "subst" "0.00259877" "02326" "CACNA1S_000061" "g.201020165T>A" "" "" "" "CACNA1S(NM_000069.3):c.4060A>T (p.T1354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201051037T>A" "" "likely benign" "" "0000269659" "0" "30" "1" "201058513" "201058513" "subst" "0.00788297" "02326" "CACNA1S_000051" "g.201058513C>T" "" "" "" "CACNA1S(NM_000069.2):c.773G>A (p.(Gly258Asp)), CACNA1S(NM_000069.3):c.773G>A (p.G258D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201089385C>T" "" "likely benign" "" "0000272517" "0" "30" "1" "201054162" "201054162" "subst" "0" "01943" "CACNA1S_000067" "g.201054162G>A" "" "" "" "CACNA1S(NM_000069.2):c.1151-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201085034G>A" "" "likely benign" "" "0000272518" "0" "30" "1" "201009066" "201009066" "subst" "0.0024261" "01943" "CACNA1S_000060" "g.201009066G>A" "" "" "" "CACNA1S(NM_000069.2):c.5515C>T (p.P1839S), CACNA1S(NM_000069.3):c.5515C>T (p.P1839S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201039938G>A" "" "likely benign" "" "0000272519" "0" "50" "1" "201060837" "201060837" "subst" "0" "01943" "CACNA1S_000069" "g.201060837T>C" "" "" "" "CACNA1S(NM_000069.2):c.625A>G (p.I209V), CACNA1S(NM_000069.3):c.625A>G (p.(Ile209Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201091709T>C" "" "VUS" "" "0000272520" "0" "30" "1" "201058598" "201058598" "del" "0" "01943" "CACNA1S_000068" "g.201058598del" "" "" "" "CACNA1S(NM_000069.2):c.695-6delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201089470del" "" "likely benign" "" "0000337438" "0" "10" "1" "201016646" "201016646" "subst" "0.126874" "02327" "CACNA1S_000025" "g.201016646C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201047518C>T" "" "benign" "" "0000337439" "0" "10" "1" "201020105" "201020105" "subst" "0.774011" "02327" "CACNA1S_000027" "g.201020105A>G" "" "" "" "CACNA1S(NM_000069.3):c.4113+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201050977A>G" "" "benign" "" "0000337440" "0" "10" "1" "201021679" "201021679" "subst" "0.00263171" "02327" "CACNA1S_000073" "g.201021679G>A" "" "" "" "CACNA1S(NM_000069.3):c.3953+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201052551G>A" "" "benign" "" "0000337441" "0" "10" "1" "201022411" "201022411" "subst" "0.0157537" "02327" "CACNA1S_000030" "g.201022411C>T" "" "" "" "CACNA1S(NM_000069.2):c.3796-9G>A (p.(=)), CACNA1S(NM_000069.3):c.3796-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201053283C>T" "" "benign" "" "0000337442" "0" "10" "1" "201028299" "201028299" "subst" "0.0146233" "02327" "CACNA1S_000032" "g.201028299G>A" "" "" "" "CACNA1S(NM_000069.2):c.3525+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201059171G>A" "" "benign" "" "0000337443" "0" "10" "1" "201035087" "201035087" "subst" "0.0371373" "02327" "CACNA1S_000034" "g.201035087G>A" "" "" "" "CACNA1S(NM_000069.2):c.2746-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201065959G>A" "" "benign" "" "0000337444" "0" "70" "1" "201036123" "201036123" "subst" "0" "02327" "CACNA1S_000079" "g.201036123T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201066995T>C" "" "likely pathogenic" "" "0000337445" "0" "10" "1" "201043627" "201043627" "subst" "0.0261369" "02327" "CACNA1S_000042" "g.201043627C>A" "" "" "" "CACNA1S(NM_000069.2):c.2063+7G>T (p.(=)), CACNA1S(NM_000069.3):c.2063+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201074499C>A" "" "benign" "" "0000337447" "0" "10" "1" "201044748" "201044748" "subst" "0.78199" "02327" "CACNA1S_000043" "g.201044748A>G" "" "" "" "CACNA1S(NM_000069.3):c.1828-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201075620A>G" "" "benign" "" "0000337448" "0" "10" "1" "201052283" "201052283" "subst" "0.0446869" "02327" "CACNA1S_000046" "g.201052283G>A" "" "" "" "CACNA1S(NM_000069.2):c.1393+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201083155G>A" "" "benign" "" "0000339615" "0" "10" "1" "201022376" "201022376" "subst" "0.0365334" "02327" "CACNA1S_000029" "g.201022376G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201053248G>A" "" "benign" "" "0000339616" "0" "30" "1" "201029939" "201029939" "subst" "0.00886512" "02327" "CACNA1S_000010" "g.201029939T>C" "" "" "" "CACNA1S(NM_000069.2):c.3261A>G (p.(Gln1087=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201060811T>C" "" "likely benign" "" "0000339617" "0" "10" "1" "201035429" "201035429" "subst" "0.0107324" "02327" "CACNA1S_000078" "g.201035429G>A" "" "" "" "CACNA1S(NM_000069.2):c.2673C>T (p.(Ser891=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201066301G>A" "" "benign" "" "0000339618" "0" "30" "1" "201057049" "201057049" "subst" "1.63413E-5" "02327" "CACNA1S_000086" "g.201057049A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201087921A>G" "" "likely benign" "" "0000340659" "0" "30" "1" "201043717" "201043717" "subst" "4.06848E-6" "02327" "CACNA1S_000082" "g.201043717G>A" "" "" "" "CACNA1S(NM_000069.2):c.1980C>T (p.(Ala660=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201074589G>A" "" "likely benign" "" "0000340705" "0" "10" "1" "201047135" "201047135" "subst" "0.0866048" "02327" "CACNA1S_000001" "g.201047135G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201078007G>A" "" "benign" "" "0000340742" "0" "10" "1" "201047111" "201047111" "subst" "0.241655" "02327" "CACNA1S_000003" "g.201047111A>G" "" "" "" "CACNA1S(NM_000069.3):c.1515T>C (p.C505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077983A>G" "" "benign" "" "0000340790" "0" "10" "1" "201047075" "201047075" "subst" "0.578931" "02327" "CACNA1S_000004" "g.201047075A>G" "" "" "" "CACNA1S(NM_000069.3):c.1551T>C (p.G517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077947A>G" "" "benign" "" "0000340821" "0" "10" "1" "201060865" "201060865" "subst" "0.389966" "02327" "CACNA1S_000052" "g.201060865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201091737G>A" "" "benign" "" "0000340860" "0" "10" "1" "201047062" "201047062" "subst" "0.209728" "02327" "CACNA1S_000005" "g.201047062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077934G>A" "" "benign" "" "0000340890" "0" "10" "1" "201038687" "201038687" "subst" "0.331439" "02327" "CACNA1S_000038" "g.201038687A>G" "" "" "" "CACNA1S(NM_000069.3):c.2403T>C (p.F801=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201069559A>G" "" "benign" "" "0000340895" "0" "10" "1" "201012597" "201012597" "subst" "0.10558" "02327" "CACNA1S_000023" "g.201012597G>A" "" "" "" "CACNA1S(NM_000069.3):c.4860C>T (p.P1620=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201043469G>A" "" "benign" "" "0000340920" "0" "10" "1" "201052312" "201052312" "subst" "0.240075" "02327" "CACNA1S_000048" "g.201052312A>C" "" "" "" "CACNA1S(NM_000069.3):c.1371T>G (p.P457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201083184A>C" "" "benign" "" "0000341560" "0" "10" "1" "201079344" "201079344" "subst" "0.0365403" "02327" "CACNA1S_000055" "g.201079344G>C" "" "" "" "CACNA1S(NM_000069.2):c.206C>G (p.(Ala69Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201110216G>C" "" "benign" "" "0000341626" "0" "50" "1" "201035049" "201035049" "subst" "8.15694E-6" "02327" "CACNA1S_000076" "g.201035049C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201065921C>A" "" "VUS" "" "0000341804" "0" "90" "1" "201022666" "201022666" "subst" "0" "02327" "CACNA1S_000012" "g.201022666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201053538C>T" "" "pathogenic" "" "0000341930" "0" "50" "1" "201017811" "201017811" "subst" "0.000102085" "02327" "CACNA1S_000071" "g.201017811C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201048683C>T" "" "VUS" "" "0000341974" "0" "10" "1" "201016296" "201016296" "subst" "0.116562" "02327" "CACNA1S_000024" "g.201016296G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201047168G>A" "" "benign" "" "0000342038" "0" "10" "1" "201012484" "201012484" "subst" "0.0609414" "02327" "CACNA1S_000022" "g.201012484C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201043356C>T" "" "benign" "" "0000342427" "0" "50" "1" "201058531" "201058531" "subst" "3.6611E-5" "02327" "CACNA1S_000087" "g.201058531C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201089403C>T" "" "VUS" "" "0000344184" "0" "50" "1" "201039530" "201039530" "subst" "0" "02327" "CACNA1S_000081" "g.201039530C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201070402C>T" "" "VUS" "" "0000344218" "0" "30" "1" "201031133" "201031133" "subst" "0.00044274" "02327" "CACNA1S_000075" "g.201031133C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201062005C>T" "" "likely benign" "" "0000344831" "0" "50" "1" "201052437" "201052437" "subst" "0" "02327" "CACNA1S_000085" "g.201052437G>A" "" "" "" "CACNA1S(NM_000069.2):c.1246C>T (p.(Gln416*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201083309G>A" "" "VUS" "" "0000345916" "0" "10" "1" "201058513" "201058513" "subst" "0.00788297" "02327" "CACNA1S_000051" "g.201058513C>T" "" "" "" "CACNA1S(NM_000069.2):c.773G>A (p.(Gly258Asp)), CACNA1S(NM_000069.3):c.773G>A (p.G258D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201089385C>T" "" "benign" "" "0000346174" "0" "50" "1" "201046130" "201046130" "subst" "7.71511E-5" "02327" "CACNA1S_000084" "g.201046130C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201077002C>G" "" "VUS" "" "0000346534" "0" "10" "1" "201035071" "201035071" "subst" "0.0378453" "02327" "CACNA1S_000077" "g.201035071G>A" "" "" "" "CACNA1S(NM_000069.2):c.2748C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201065943G>A" "" "benign" "" "0000346956" "0" "10" "1" "201009182" "201009182" "subst" "0.146055" "02327" "CACNA1S_000017" "g.201009182A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201040054A>G" "" "benign" "" "0000347178" "0" "10" "1" "201052310" "201052310" "subst" "0.240073" "02327" "CACNA1S_000047" "g.201052310A>T" "" "" "" "CACNA1S(NM_000069.3):c.1373T>A (p.L458H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201083182A>T" "" "benign" "" "0000347316" "0" "50" "1" "201038659" "201038659" "subst" "0" "02327" "CACNA1S_000080" "g.201038659G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201069531G>A" "" "VUS" "" "0000347667" "0" "30" "1" "201063146" "201063146" "subst" "0.000235537" "02327" "CACNA1S_000089" "g.201063146T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201094018T>C" "" "likely benign" "" "0000348249" "0" "10" "1" "201009066" "201009066" "subst" "0.0024261" "02327" "CACNA1S_000060" "g.201009066G>A" "" "" "" "CACNA1S(NM_000069.2):c.5515C>T (p.P1839S), CACNA1S(NM_000069.3):c.5515C>T (p.P1839S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201039938G>A" "" "benign" "" "0000348794" "0" "10" "1" "201009011" "201009011" "subst" "0.00208296" "02327" "CACNA1S_000070" "g.201009011C>T" "" "" "" "CACNA1S(NM_000069.2):c.5570G>A (p.S1857N, p.(Ser1857Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201039883C>T" "" "benign" "" "0000349879" "0" "50" "1" "201063085" "201063085" "subst" "4.06062E-6" "02327" "CACNA1S_000088" "g.201063085T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201093957T>C" "" "VUS" "" "0000349890" "0" "50" "1" "201027615" "201027615" "subst" "2.84264E-5" "02327" "CACNA1S_000074" "g.201027615T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201058487T>A" "" "VUS" "" "0000350291" "0" "50" "1" "201018205" "201018205" "subst" "3.68698E-5" "02327" "CACNA1S_000072" "g.201018205C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201049077C>T" "" "VUS" "" "0000351006" "0" "10" "1" "201081299" "201081299" "subst" "0.0187415" "02327" "CACNA1S_000090" "g.201081299C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.201112171C>G" "" "benign" "" "0000398476" "1" "70" "1" "201054668" "201054668" "subst" "4.06058E-6" "00006" "CACNA1S_000091" "g.201054668G>C" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS2, PM2, PP3" "Germline" "" "" "0" "" "" "g.201085540G>C" "" "likely pathogenic" "ACMG" "0000504741" "0" "30" "1" "201009011" "201009011" "subst" "0.00208296" "01804" "CACNA1S_000070" "g.201009011C>T" "" "" "" "CACNA1S(NM_000069.2):c.5570G>A (p.S1857N, p.(Ser1857Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201039883C>T" "" "likely benign" "" "0000504745" "0" "50" "1" "201019631" "201019631" "subst" "0" "02327" "CACNA1S_000094" "g.201019631A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201050503A>G" "" "VUS" "" "0000504746" "0" "30" "1" "201019652" "201019652" "subst" "0.000556413" "01943" "CACNA1S_000095" "g.201019652A>G" "" "" "" "CACNA1S(NM_000069.2):c.4114-8T>C, CACNA1S(NM_000069.3):c.4114-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201050524A>G" "" "likely benign" "" "0000504750" "0" "70" "1" "201022675" "201022675" "subst" "0" "02327" "CACNA1S_000097" "g.201022675C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201053547C>T" "" "likely pathogenic" "" "0000504752" "0" "10" "1" "201031059" "201031059" "subst" "0.018014" "02327" "CACNA1S_000033" "g.201031059A>G" "" "" "" "CACNA1S(NM_000069.2):c.3053+13T>C (p.(=)), CACNA1S(NM_000069.3):c.3053+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201061931A>G" "" "benign" "" "0000504755" "0" "30" "1" "201046058" "201046058" "subst" "0.00818607" "01804" "CACNA1S_000101" "g.201046058C>T" "" "" "" "CACNA1S(NM_000069.2):c.1817G>A (p.(Ser606Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201076930C>T" "" "likely benign" "" "0000504757" "0" "10" "1" "201052312" "201052312" "subst" "0.240075" "02325" "CACNA1S_000048" "g.201052312A>C" "" "" "" "CACNA1S(NM_000069.3):c.1371T>G (p.P457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201083184A>C" "" "benign" "" "0000504758" "0" "50" "1" "201052437" "201052437" "subst" "0" "01804" "CACNA1S_000085" "g.201052437G>A" "" "" "" "CACNA1S(NM_000069.2):c.1246C>T (p.(Gln416*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201083309G>A" "" "VUS" "" "0000504759" "0" "50" "1" "201052449" "201052449" "subst" "0" "01943" "CACNA1S_000103" "g.201052449G>A" "" "" "" "CACNA1S(NM_000069.2):c.1234C>T (p.R412*), CACNA1S(NM_000069.3):c.1234C>T (p.(Arg412*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201083321G>A" "" "VUS" "" "0000504761" "0" "30" "1" "201058513" "201058513" "subst" "0.00788297" "01804" "CACNA1S_000051" "g.201058513C>T" "" "" "" "CACNA1S(NM_000069.2):c.773G>A (p.(Gly258Asp)), CACNA1S(NM_000069.3):c.773G>A (p.G258D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201089385C>T" "" "likely benign" "" "0000504762" "0" "50" "1" "201060851" "201060851" "del" "0" "01943" "CACNA1S_000105" "g.201060851del" "" "" "" "CACNA1S(NM_000069.2):c.611delT (p.L204Pfs*130)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201091723del" "" "VUS" "" "0000504763" "0" "50" "1" "201081394" "201081394" "subst" "0" "02327" "CACNA1S_000106" "g.201081394G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201112266G>T" "" "VUS" "" "0000605065" "0" "50" "1" "201028417" "201028417" "subst" "0.00023559" "01943" "CACNA1S_000107" "g.201028417T>G" "" "" "" "CACNA1S(NM_000069.2):c.3425A>C (p.Q1142P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201059289T>G" "" "VUS" "" "0000605066" "0" "90" "1" "201031219" "201031219" "subst" "4.10432E-6" "02327" "CACNA1S_000109" "g.201031219C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201062091C>T" "" "pathogenic" "" "0000605067" "0" "30" "1" "201038650" "201038650" "subst" "0.00121226" "02326" "CACNA1S_000065" "g.201038650C>T" "" "" "" "CACNA1S(NM_000069.2):c.2440G>A (p.(Ala814Thr)), CACNA1S(NM_000069.3):c.2440G>A (p.A814T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201069522C>T" "" "likely benign" "" "0000605068" "0" "30" "1" "201044687" "201044687" "subst" "2.43637E-5" "01943" "CACNA1S_000110" "g.201044687G>A" "" "" "" "CACNA1S(NM_000069.2):c.1884C>T (p.G628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201075559G>A" "" "likely benign" "" "0000605070" "0" "30" "1" "201063084" "201063084" "subst" "0.000292376" "01943" "CACNA1S_000112" "g.201063084G>A" "" "" "" "CACNA1S(NM_000069.2):c.324C>T (p.Y108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201093956G>A" "" "likely benign" "" "0000647502" "1" "30" "1" "201013535" "201013535" "subst" "0.000349932" "03575" "CACNA1S_000113" "g.201013535G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs183195890}" "Germline" "" "rs183195890" "0" "" "" "g.201044407G>A" "" "likely benign" "" "0000647503" "1" "30" "1" "201028417" "201028417" "subst" "0.00023559" "03575" "CACNA1S_000107" "g.201028417T>G" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs139373152}" "Germline" "" "rs139373152" "0" "" "" "g.201059289T>G" "" "likely benign" "" "0000647504" "1" "50" "1" "201038623" "201038623" "subst" "6.38331E-5" "03575" "CACNA1S_000114" "g.201038623G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs199758244}" "Germline" "" "rs199758244" "0" "" "" "g.201069495G>A" "" "VUS" "" "0000647505" "1" "30" "1" "201046058" "201046058" "subst" "0.00818607" "03575" "CACNA1S_000101" "g.201046058C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs142356235}" "Germline" "" "rs142356235" "0" "" "" "g.201076930C>T" "" "likely benign" "" "0000647506" "1" "30" "1" "201047231" "201047231" "subst" "0.000426566" "03575" "CACNA1S_000115" "g.201047231G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs189129662}" "Germline" "" "rs189129662" "0" "" "" "g.201078103G>A" "" "likely benign" "" "0000647507" "1" "50" "1" "201061121" "201061121" "subst" "2.84352E-5" "03575" "CACNA1S_000116" "g.201061121G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "drug response; 1 heterozygous, no homozygous; {DB:CLININrs772226819}" "Germline" "" "rs772226819" "0" "" "" "g.201091993G>A" "" "VUS" "" "0000647508" "1" "30" "1" "201079344" "201079344" "subst" "0.0365403" "03575" "CACNA1S_000055" "g.201079344G>C" "208/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININrs12406479}" "Germline" "" "rs12406479" "0" "" "" "g.201110216G>C" "" "likely benign" "" "0000653095" "1" "30" "1" "201058513" "201058513" "subst" "0.00788297" "03575" "CACNA1S_000051" "g.201058513C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous; {DB:CLININrs35534614}" "Germline" "" "rs35534614" "0" "" "" "g.201089385C>T" "" "likely benign" "" "0000653845" "0" "30" "1" "201009011" "201009011" "subst" "0.00208296" "01943" "CACNA1S_000070" "g.201009011C>T" "" "" "" "CACNA1S(NM_000069.2):c.5570G>A (p.S1857N, p.(Ser1857Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201039883C>T" "" "likely benign" "" "0000653846" "0" "30" "1" "201039546" "201039546" "subst" "6.9256E-5" "02327" "CACNA1S_000117" "g.201039546G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201070418G>A" "" "likely benign" "" "0000653847" "0" "50" "1" "201063112" "201063112" "subst" "0" "01943" "CACNA1S_000118" "g.201063112A>G" "" "" "" "CACNA1S(NM_000069.2):c.296T>C (p.I99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.201093984A>G" "" "VUS" "" "0000664344" "0" "70" "1" "201029836" "201029836" "subst" "1.21817E-5" "03661" "CACNA1S_000119" "g.201029836A>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.201060708A>G" "" "VUS" "" "0000668992" "3" "30" "1" "201079344" "201079344" "subst" "0.0365403" "03575" "CACNA1S_000055" "g.201079344G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs12406479}" "Germline" "" "rs12406479" "0" "" "" "g.201110216G>C" "" "likely benign" "" "0000670152" "3" "30" "1" "201058513" "201058513" "subst" "0.00788297" "03575" "CACNA1S_000051" "g.201058513C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs35534614}" "Germline" "" "rs35534614" "0" "" "" "g.201089385C>T" "" "likely benign" "" "0000675302" "1" "50" "1" "201060797" "201060797" "subst" "0" "00534" "CACNA1S_000122" "g.201060797A>T" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.201091669A>T" "" "VUS" "ACMG" "0000675353" "2" "50" "1" "201038725" "201038725" "subst" "1.33526E-5" "00534" "CACNA1S_000121" "g.201038725G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.201069597G>A" "" "VUS" "ACMG" "0000675594" "0" "50" "1" "201018210" "201018210" "subst" "0" "02327" "CACNA1S_000120" "g.201018210A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686385" "0" "90" "1" "201047043" "201047043" "subst" "0" "01164" "CACNA1S_000007" "g.201047043C>T" "" "" "" "" "ACMG grading: PS3,PS4,PM2,PM5,PP1,PP3" "Germline" "" "rs80338777" "0" "" "" "" "" "pathogenic" "ACMG" "0000687984" "0" "70" "1" "201054628" "201054628" "del" "0" "01943" "CACNA1S_000123" "g.201054628del" "" "" "" "CACNA1S(NM_000069.2):c.1087delC (p.L363Ffs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000697328" "0" "70" "1" "201047043" "201047043" "subst" "0" "00006" "CACNA1S_000007" "g.201047043C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.201077915C>T" "" "likely pathogenic" "" "0000717074" "0" "50" "1" "201010661" "201010661" "subst" "0.000121941" "02329" "CACNA1S_000092" "g.201010661C>T" "" "" "" "CACNA1S(NM_000069.2):c.5105G>A (p.R1702Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717075" "0" "50" "1" "201030579" "201030579" "subst" "0" "02329" "CACNA1S_000108" "g.201030579A>G" "" "" "" "CACNA1S(NM_000069.2):c.3071T>C (p.I1024T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717076" "0" "30" "1" "201036001" "201036001" "subst" "0" "02327" "CACNA1S_000124" "g.201036001T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717077" "0" "30" "1" "201038650" "201038650" "subst" "0.00121226" "01804" "CACNA1S_000065" "g.201038650C>T" "" "" "" "CACNA1S(NM_000069.2):c.2440G>A (p.(Ala814Thr)), CACNA1S(NM_000069.3):c.2440G>A (p.A814T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717078" "0" "10" "1" "201038650" "201038650" "subst" "0.00121226" "02327" "CACNA1S_000065" "g.201038650C>T" "" "" "" "CACNA1S(NM_000069.2):c.2440G>A (p.(Ala814Thr)), CACNA1S(NM_000069.3):c.2440G>A (p.A814T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717079" "0" "30" "1" "201047079" "201047079" "subst" "0.00201449" "02326" "CACNA1S_000125" "g.201047079G>A" "" "" "" "CACNA1S(NM_000069.3):c.1547C>T (p.S516L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717080" "0" "50" "1" "201052301" "201052301" "subst" "6.09523E-5" "02329" "CACNA1S_000102" "g.201052301G>A" "" "" "" "CACNA1S(NM_000069.2):c.1382C>T (p.T461I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717081" "0" "30" "1" "201063063" "201063063" "subst" "0.000438557" "02326" "CACNA1S_000111" "g.201063063G>A" "" "" "" "CACNA1S(NM_000069.3):c.345C>T (p.D115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799003" "0" "30" "1" "201028299" "201028299" "subst" "0.0146233" "01804" "CACNA1S_000032" "g.201028299G>A" "" "" "" "CACNA1S(NM_000069.2):c.3525+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799004" "0" "30" "1" "201038636" "201038636" "subst" "0.00101899" "01943" "CACNA1S_000126" "g.201038636C>T" "" "" "" "CACNA1S(NM_000069.2):c.2454G>A (p.A818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799005" "0" "30" "1" "201038740" "201038740" "subst" "0.00039255" "02326" "CACNA1S_000127" "g.201038740G>A" "" "" "" "CACNA1S(NM_000069.3):c.2361-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799006" "0" "30" "1" "201043627" "201043627" "subst" "0.0261369" "01804" "CACNA1S_000042" "g.201043627C>A" "" "" "" "CACNA1S(NM_000069.2):c.2063+7G>T (p.(=)), CACNA1S(NM_000069.3):c.2063+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799007" "0" "30" "1" "201046997" "201046997" "subst" "0.000164462" "01943" "CACNA1S_000128" "g.201046997C>T" "" "" "" "CACNA1S(NM_000069.2):c.1619+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831231" "0" "50" "1" "201046155" "201046155" "subst" "2.03031E-5" "01164" "CACNA1S_000129" "g.201046155C>T" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000848465" "0" "30" "1" "201020172" "201020172" "subst" "0.00110853" "02326" "CACNA1S_000132" "g.201020172T>C" "" "" "" "CACNA1S(NM_000069.3):c.4053A>G (p.T1351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848466" "0" "30" "1" "201063039" "201063039" "subst" "0.000584729" "02326" "CACNA1S_000137" "g.201063039A>G" "" "" "" "CACNA1S(NM_000069.3):c.369T>C (p.N123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857210" "0" "30" "1" "201009066" "201009066" "subst" "0.0024261" "02326" "CACNA1S_000060" "g.201009066G>A" "" "" "" "CACNA1S(NM_000069.2):c.5515C>T (p.P1839S), CACNA1S(NM_000069.3):c.5515C>T (p.P1839S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857211" "0" "30" "1" "201012449" "201012449" "subst" "0.000162569" "01804" "CACNA1S_000130" "g.201012449A>T" "" "" "" "CACNA1S(NM_000069.2):c.5008T>A (p.(Tyr1670Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857212" "0" "30" "1" "201012574" "201012574" "subst" "0.000170563" "01804" "CACNA1S_000131" "g.201012574A>G" "" "" "" "CACNA1S(NM_000069.2):c.4883T>C (p.(Leu1628Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857213" "0" "30" "1" "201022653" "201022653" "subst" "2.03193E-5" "01943" "CACNA1S_000133" "g.201022653C>T" "" "" "" "CACNA1S(NM_000069.2):c.3729G>A (p.L1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857214" "0" "30" "1" "201028383" "201028383" "subst" "0" "01943" "CACNA1S_000134" "g.201028383G>A" "" "" "" "CACNA1S(NM_000069.2):c.3459C>T (p.L1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857215" "0" "50" "1" "201030460" "201030460" "subst" "0.000105577" "01943" "CACNA1S_000135" "g.201030460C>T" "" "" "" "CACNA1S(NM_000069.2):c.3190G>A (p.V1064I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857216" "0" "10" "1" "201031059" "201031059" "subst" "0.018014" "01804" "CACNA1S_000033" "g.201031059A>G" "" "" "" "CACNA1S(NM_000069.2):c.3053+13T>C (p.(=)), CACNA1S(NM_000069.3):c.3053+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857217" "0" "30" "1" "201031145" "201031145" "subst" "2.03113E-5" "01943" "CACNA1S_000136" "g.201031145C>T" "" "" "" "CACNA1S(NM_000069.2):c.2980G>A (p.D994N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857218" "0" "30" "1" "201035071" "201035071" "subst" "0.0378453" "01804" "CACNA1S_000077" "g.201035071G>A" "" "" "" "CACNA1S(NM_000069.2):c.2748C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857219" "0" "30" "1" "201079344" "201079344" "subst" "0.0365403" "01804" "CACNA1S_000055" "g.201079344G>C" "" "" "" "CACNA1S(NM_000069.2):c.206C>G (p.(Ala69Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872064" "1" "90" "1" "201044724" "201044724" "subst" "0" "00006" "CACNA1S_000138" "g.201044724C>T" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PVS1, PM2, PS4_sup" "Germline" "" "" "0" "" "" "g.201075596C>T" "" "pathogenic" "ACMG" "0000881138" "0" "70" "1" "201036045" "201036045" "subst" "0" "02300" "CACNA1S_000139" "g.201036045A>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs267606698" "0" "" "" "g.201066917A>T" "" "likely pathogenic (dominant)" "ACMG" "0000881139" "0" "90" "1" "201022666" "201022666" "subst" "0" "02300" "CACNA1S_000012" "g.201022666C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP3, PP5" "De novo" "" "rs28930068" "0" "" "" "g.201053538C>T" "" "pathogenic (dominant)" "ACMG" "0000883042" "0" "30" "1" "201009027" "201009027" "subst" "0.000272746" "01804" "CACNA1S_000140" "g.201009027C>T" "" "" "" "CACNA1S(NM_000069.2):c.5554G>A (p.(Gly1852Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883043" "0" "30" "1" "201013567" "201013567" "subst" "0.000382923" "02326" "CACNA1S_000141" "g.201013567A>G" "" "" "" "CACNA1S(NM_000069.3):c.4686T>C (p.I1562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883044" "0" "30" "1" "201019652" "201019652" "subst" "0.000556413" "02326" "CACNA1S_000095" "g.201019652A>G" "" "" "" "CACNA1S(NM_000069.2):c.4114-8T>C, CACNA1S(NM_000069.3):c.4114-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883045" "0" "30" "1" "201021678" "201021678" "subst" "0.000934101" "02326" "CACNA1S_000142" "g.201021678C>T" "" "" "" "CACNA1S(NM_000069.3):c.3953+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883046" "0" "10" "1" "201021679" "201021679" "subst" "0.00263171" "02326" "CACNA1S_000073" "g.201021679G>A" "" "" "" "CACNA1S(NM_000069.3):c.3953+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883047" "0" "10" "1" "201035087" "201035087" "subst" "0.0371373" "01804" "CACNA1S_000034" "g.201035087G>A" "" "" "" "CACNA1S(NM_000069.2):c.2746-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883048" "0" "10" "1" "201035429" "201035429" "subst" "0.0107324" "01804" "CACNA1S_000078" "g.201035429G>A" "" "" "" "CACNA1S(NM_000069.2):c.2673C>T (p.(Ser891=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883049" "0" "30" "1" "201036006" "201036006" "subst" "0.000260903" "02326" "CACNA1S_000143" "g.201036006G>A" "" "" "" "CACNA1S(NM_000069.3):c.2657+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883050" "0" "50" "1" "201047133" "201047133" "subst" "0.000588799" "01804" "CACNA1S_000144" "g.201047133C>A" "" "" "" "CACNA1S(NM_000069.2):c.1493G>T (p.(Arg498Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883051" "0" "30" "1" "201047174" "201047174" "subst" "0.00114917" "02326" "CACNA1S_000015" "g.201047174G>A" "" "" "" "CACNA1S(NM_000069.3):c.1452C>T (p.Y484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883052" "0" "30" "1" "201052283" "201052283" "subst" "0.0446869" "01804" "CACNA1S_000046" "g.201052283G>A" "" "" "" "CACNA1S(NM_000069.2):c.1393+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910897" "0" "10" "1" "201022411" "201022411" "subst" "0.0157537" "01804" "CACNA1S_000030" "g.201022411C>T" "" "" "" "CACNA1S(NM_000069.2):c.3796-9G>A (p.(=)), CACNA1S(NM_000069.3):c.3796-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910898" "0" "50" "1" "201036101" "201036101" "subst" "0" "02329" "CACNA1S_000145" "g.201036101G>T" "" "" "" "CACNA1S(NM_000069.2):c.2571C>A (p.F857L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923043" "0" "30" "1" "201009086" "201009093" "del" "0" "02326" "CACNA1S_000146" "g.201009086_201009093del" "" "" "" "CACNA1S(NM_000069.3):c.5490_5497delAGAGCTAC (p.L1832Rfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923044" "0" "30" "1" "201022621" "201022621" "subst" "0.000670236" "01804" "CACNA1S_000147" "g.201022621C>T" "" "" "" "CACNA1S(NM_000069.2):c.3761G>A (p.(Arg1254Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923045" "0" "50" "1" "201029941" "201029941" "subst" "0" "01804" "CACNA1S_000148" "g.201029941G>A" "" "" "" "CACNA1S(NM_000069.2):c.3259C>T (p.(Gln1087*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931782" "21" "50" "1" "201019631" "201019631" "subst" "0" "00006" "CACNA1S_000094" "g.201019631A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201050503A>G" "" "likely benign" "" "0000934130" "0" "70" "1" "201061144" "201061144" "subst" "0" "04582" "CACNA1S_000149" "g.201061144G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.201092016G>T" "" "likely pathogenic" "ACMG" "0000946082" "0" "50" "1" "201036123" "201036123" "subst" "0" "00006" "CACNA1S_000079" "g.201036123T>C" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.201066995T>C" "" "VUS" "" "0000946083" "0" "50" "1" "201027615" "201027615" "subst" "2.84264E-5" "00006" "CACNA1S_000074" "g.201027615T>A" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.201058487T>A" "" "VUS" "" "0000946108" "0" "50" "1" "201046130" "201046130" "subst" "7.71511E-5" "00006" "CACNA1S_000084" "g.201046130C>G" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.201077002C>G" "" "VUS" "" "0000946139" "11" "30" "1" "201052437" "201052437" "subst" "0" "00006" "CACNA1S_000085" "g.201052437G>A" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy father" "Germline" "" "" "0" "" "" "g.201083309G>A" "" "likely benign" "" "0000947095" "0" "30" "1" "201022323" "201022323" "subst" "0.000422452" "01804" "CACNA1S_000150" "g.201022323C>A" "" "" "" "CACNA1S(NM_000069.2):c.3861+14G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947096" "0" "10" "1" "201029939" "201029939" "subst" "0.00886512" "01804" "CACNA1S_000010" "g.201029939T>C" "" "" "" "CACNA1S(NM_000069.2):c.3261A>G (p.(Gln1087=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960734" "0" "10" "1" "201038742" "201038742" "subst" "0.00144155" "02326" "CACNA1S_000151" "g.201038742G>A" "" "" "" "CACNA1S(NM_000069.3):c.2361-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960735" "0" "30" "1" "201043717" "201043717" "subst" "4.06848E-6" "01804" "CACNA1S_000082" "g.201043717G>A" "" "" "" "CACNA1S(NM_000069.2):c.1980C>T (p.(Ala660=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960736" "0" "50" "1" "201044622" "201044622" "subst" "2.03042E-5" "01804" "CACNA1S_000083" "g.201044622C>T" "" "" "" "CACNA1S(NM_000069.2):c.1948+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973555" "0" "50" "1" "201021685" "201021685" "subst" "0" "02329" "CACNA1S_000152" "g.201021685C>G" "" "" "" "CACNA1S(NM_000069.3):c.3953G>C (p.R1318T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973556" "0" "10" "1" "201043702" "201043702" "subst" "0.00639108" "01804" "CACNA1S_000153" "g.201043702G>A" "" "" "" "CACNA1S(NM_000069.2):c.1995C>T (p.(Ala665=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973557" "0" "10" "1" "201047078" "201047078" "subst" "0.00838302" "01804" "CACNA1S_000154" "g.201047078C>T" "" "" "" "CACNA1S(NM_000069.2):c.1548G>A (p.(Ser516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973558" "0" "30" "1" "201047168" "201047168" "subst" "0.000109637" "01804" "CACNA1S_000066" "g.201047168C>T" "" "" "" "CACNA1S(NM_000069.2):c.1458G>A (p.(Leu486=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973559" "0" "50" "1" "201052449" "201052449" "subst" "0" "01804" "CACNA1S_000103" "g.201052449G>A" "" "" "" "CACNA1S(NM_000069.2):c.1234C>T (p.R412*), CACNA1S(NM_000069.3):c.1234C>T (p.(Arg412*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973560" "0" "50" "1" "201060837" "201060837" "subst" "0" "01804" "CACNA1S_000069" "g.201060837T>C" "" "" "" "CACNA1S(NM_000069.2):c.625A>G (p.I209V), CACNA1S(NM_000069.3):c.625A>G (p.(Ile209Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973561" "0" "50" "1" "201063079" "201063079" "subst" "4.06062E-6" "01804" "CACNA1S_000155" "g.201063079A>T" "" "" "" "CACNA1S(NM_000069.3):c.329T>A (p.(Phe110Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990716" "0" "50" "1" "201019629" "201019630" "del" "0" "01804" "CACNA1S_000156" "g.201019629_201019630del" "" "" "" "CACNA1S(NM_000069.2):c.4130_4131delTG (p.(Val1377fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990717" "0" "30" "1" "201054087" "201054087" "subst" "0" "01804" "CACNA1S_000157" "g.201054087A>G" "" "" "" "CACNA1S(NM_000069.2):c.1223T>C (p.(Ile408Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001012276" "0" "50" "1" "201020200" "201020200" "subst" "4.06055E-6" "01164" "CACNA1S_000158" "g.201020200G>A" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "g.201051072G>A" "" "VUS" "ACMG" "0001013263" "0" "50" "1" "201035013" "201035013" "subst" "0" "02329" "CACNA1S_000159" "g.201035013T>C" "" "" "" "CACNA1S(NM_000069.3):c.2806A>G (p.T936A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013264" "0" "10" "1" "201035035" "201035035" "subst" "0.00121671" "01804" "CACNA1S_000160" "g.201035035G>A" "" "" "" "CACNA1S(NM_000069.2):c.2784C>T (p.(Ile928=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013265" "0" "10" "1" "201038610" "201038610" "subst" "0.00257329" "01804" "CACNA1S_000161" "g.201038610A>G" "" "" "" "CACNA1S(NM_000069.2):c.2480T>C (p.(Met827Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001023996" "0" "30" "1" "201063007" "201063007" "subst" "4.87278E-5" "03779" "CACNA1S_000162" "g.201063007C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs764710968" "0" "" "" "" "" "likely benign" "" "0001031586" "0" "50" "1" "201021733" "201021733" "subst" "8.12123E-5" "01804" "CACNA1S_000163" "g.201021733C>T" "" "" "" "CACNA1S(NM_000069.3):c.3905G>A (p.(Arg1302Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031587" "0" "50" "1" "201034983" "201034983" "subst" "1.62553E-5" "01804" "CACNA1S_000164" "g.201034983C>T" "" "" "" "CACNA1S(NM_000069.3):c.2836G>A (p.(Gly946Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046983" "0" "50" "1" "201027607" "201027607" "subst" "1.21824E-5" "03779" "CACNA1S_000165" "g.201027607C>T" "" "" "" "" "" "Unknown" "" "rs775845281" "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 CACNA1S ## Count = 312 "{{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}}" "0000003541" "00001372" "50" "4113" "7" "4113" "7" "c.4113+7T>C" "r.(=)" "p.(=)" "" "0000003542" "00001372" "50" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "" "0000011519" "00001372" "50" "4113" "7" "4113" "7" "c.4113+7T>C" "r.(=)" "p.(=)" "" "0000011520" "00001372" "50" "1620" "-133" "1620" "-133" "c.1620-133T>C" "r.(=)" "p.(=)" "" "0000062257" "00001372" "50" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ala69Gly)" "" "0000062258" "00001372" "10" "2746" "-14" "2746" "-14" "c.2746-14C>T" "r.(=)" "p.(=)" "" "0000062259" "00001372" "50" "2064" "-66" "2064" "-66" "c.2064-66T>G" "r.(=)" "p.(=)" "" "0000062260" "00001372" "10" "3525" "18" "3525" "18" "c.3525+18C>T" "r.(=)" "p.(=)" "" "0000062261" "00001372" "50" "3885" "0" "3885" "0" "c.3885G>A" "r.(=)" "p.(=)" "" "0000062262" "00001372" "50" "2490" "91" "2490" "91" "c.2490+91C>T" "r.(=)" "p.(=)" "" "0000062263" "00001372" "50" "3795" "91" "3795" "91" "c.3795+91G>T" "r.(=)" "p.(=)" "" "0000062264" "00001372" "10" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000062265" "00001372" "10" "5134" "8" "5134" "8" "c.5134+8C>T" "r.(=)" "p.(=)" "" "0000062266" "00001372" "50" "153" "-24" "153" "-24" "c.153-24G>A" "r.(=)" "p.(=)" "" "0000062267" "00001372" "10" "2227" "15" "2227" "15" "c.2227+15G>A" "r.(=)" "p.(=)" "" "0000062268" "00001372" "10" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Leu458His)" "" "0000062269" "00001372" "10" "2063" "7" "2063" "7" "c.2063+7G>T" "r.(=)" "p.(=)" "" "0000062270" "00001372" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000062271" "00001372" "10" "1828" "-5" "1828" "-5" "c.1828-5T>C" "r.spl?" "p.(=)" "" "0000062272" "00001372" "10" "1827" "23" "1827" "23" "c.1827+23C>A" "r.(=)" "p.(=)" "" "0000062273" "00001372" "10" "1564" "0" "1564" "0" "c.1564C>T" "r.(=)" "p.(Leu522=)" "" "0000062274" "00001372" "10" "1551" "0" "1551" "0" "c.1551T>C" "r.(=)" "p.(Gly571=)" "" "0000062275" "00001372" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(=)" "p.(Cys505=)" "" "0000062276" "00001372" "10" "1393" "7" "1393" "7" "c.1393+7C>T" "r.(=)" "p.(=)" "" "0000062277" "00001372" "10" "2157" "59" "2157" "59" "c.2157+59C>T" "r.(=)" "p.(=)" "" "0000062278" "00001372" "10" "1371" "0" "1371" "0" "c.1371T>G" "r.(=)" "p.(=)" "" "0000062279" "00001372" "10" "1233" "-24" "1233" "-24" "c.1233-24A>G" "r.(=)" "p.(=)" "" "0000062280" "00001372" "10" "1151" "-38" "1151" "-38" "c.1151-38C>A" "r.(=)" "p.(=)" "" "0000062281" "00001372" "10" "597" "0" "597" "0" "c.597C>T" "r.(=)" "p.(=)" "" "0000062282" "00001372" "10" "258" "57" "258" "57" "c.258+57G>A" "r.(=)" "p.(=)" "" "0000062283" "00001372" "10" "153" "-61" "153" "-61" "c.153-61A>T" "r.(=)" "p.(=)" "" "0000062284" "00001372" "10" "152" "32" "152" "32" "c.152+32del" "r.(=)" "p.(=)" "" "0000062285" "00001372" "10" "1491" "0" "1491" "0" "c.1491C>T" "r.(=)" "p.(=)" "" "0000062286" "00001372" "10" "5135" "-56" "5135" "-56" "c.5135-56A>G" "r.(=)" "p.(=)" "" "0000062287" "00001372" "50" "3053" "13" "3053" "13" "c.3053+13T>C" "r.(=)" "p.(=)" "" "0000062288" "00001372" "10" "3796" "-9" "3796" "-9" "c.3796-9G>A" "r.(=)" "p.(=)" "" "0000062289" "00001372" "50" "3795" "3" "3795" "3" "c.3795+3G>A" "r.(=)" "p.(=)" "" "0000062290" "00001372" "50" "2658" "-44" "2658" "-44" "c.2658-44T>A" "r.(=)" "p.(=)" "" "0000062291" "00001372" "50" "443" "0" "443" "0" "c.443A>T" "r.(?)" "p.(His148Leu)" "" "0000062292" "00001372" "10" "4973" "0" "4973" "0" "c.4973G>A" "r.(=)" "p.(Arg1658His)" "" "0000062293" "00001372" "10" "5399" "0" "5399" "0" "c.5399T>C" "r.(=)" "p.(Leu1800Ser)" "" "0000062294" "00001372" "10" "5227" "-54" "5227" "-54" "c.5227-54T>C" "r.(=)" "p.(=)" "" "0000062295" "00001372" "10" "5135" "-32" "5135" "-32" "c.5135-32C>T" "r.(=)" "p.(=)" "" "0000062296" "00001372" "10" "2403" "0" "2403" "0" "c.2403T>C" "r.(=)" "p.(=)" "" "0000062297" "00001372" "10" "4860" "0" "4860" "0" "c.4860C>T" "r.(=)" "p.(=)" "" "0000062298" "00001372" "10" "4615" "0" "4615" "0" "c.4615C>T" "r.(=)" "p.(Arg1539Cys)" "" "0000062299" "00001372" "10" "4543" "7" "4543" "7" "c.4543+7G>A" "r.(=)" "p.(=)" "" "0000062300" "00001372" "10" "4441" "22" "4441" "22" "c.4441+22dup" "r.(=)" "p.(=)" "" "0000062301" "00001372" "10" "4113" "7" "4113" "7" "c.4113+7T>C" "r.(=)" "p.(=)" "" "0000062302" "00001372" "10" "3822" "0" "3822" "0" "c.3822C>T" "r.(=)" "p.(=)" "" "0000062303" "00001372" "10" "2490" "99" "2490" "99" "c.2490+99A>G" "r.(=)" "p.(=)" "" "0000178171" "00001372" "11" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Tyr484=)" "11" "0000178172" "00001372" "11" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Asn497=)" "11" "0000178173" "00001372" "11" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Asn497=)" "11" "0000178174" "00001372" "99" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "0000178175" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178176" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178177" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178178" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178179" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178180" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178181" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178182" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178183" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178184" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178185" "00001372" "99" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178186" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178187" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178188" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178189" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178190" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178191" "00001372" "99" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178192" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178193" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178194" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178195" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178196" "00001372" "11" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "11" "0000178197" "00001372" "95" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178198" "00001372" "99" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178199" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178200" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178201" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178202" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178203" "00001372" "95" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178204" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178205" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178206" "00001372" "99" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178207" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178208" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178209" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178210" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178211" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178212" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178213" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178214" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178215" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178216" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178217" "00001372" "11" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly571=)" "11" "0000178218" "00001372" "99" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178219" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178220" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178221" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178222" "00001372" "99" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178223" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178224" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178225" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178226" "00001372" "11" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "11" "0000178227" "00001372" "99" "1582" "0" "1582" "0" "c.1582C>G" "r.(?)" "p.(Arg528Gly)" "11" "0000178228" "00001372" "95" "1582" "0" "1582" "0" "c.1582C>T" "r.(1582g>a)" "p.(Arg528Cys)" "11" "0000178229" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178230" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178231" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178232" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178233" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178234" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178235" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178236" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178237" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178238" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178239" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178240" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178241" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178242" "00001372" "99" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "11" "0000178243" "00001372" "99" "3256" "0" "3256" "0" "c.3256C>T" "r.(?)" "p.(Arg1086Cys)" "26" "0000178244" "00001372" "99" "3257" "0" "3257" "0" "c.3257G>A" "r.(?)" "p.(Arg1086His)" "26" "0000178245" "00001372" "11" "3261" "0" "3261" "0" "c.3261A>G" "r.(?)" "p.(Gln1087Gln)" "26" "0000178246" "00001372" "99" "3715" "0" "3715" "0" "c.3715C>G" "r.(?)" "p.(Arg1239Gly)" "30" "0000178247" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178248" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178249" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178250" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178251" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178252" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178253" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178254" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178255" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178256" "00001372" "99" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "30" "0000178257" "00001372" "99" "3795" "3" "3795" "3" "c.3795+3G>A" "r.(?)" "p.?" "30" "0000248477" "00001372" "10" "2403" "0" "2403" "0" "c.2403T>C" "r.(?)" "p.(Phe801=)" "" "0000248478" "00001372" "10" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly517=)" "" "0000248479" "00001372" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "" "0000248831" "00001372" "10" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Leu458His)" "" "0000248965" "00001372" "10" "4113" "7" "4113" "7" "c.4113+7T>C" "r.(=)" "p.(=)" "" "0000248966" "00001372" "10" "1828" "-5" "1828" "-5" "c.1828-5T>C" "r.spl?" "p.?" "" "0000251202" "00001372" "10" "3053" "13" "3053" "13" "c.3053+13T>C" "r.(=)" "p.(=)" "" "0000266454" "00001372" "10" "4860" "0" "4860" "0" "c.4860C>T" "r.(?)" "p.(Pro1620=)" "" "0000269655" "00001372" "30" "2063" "7" "2063" "7" "c.2063+7G>T" "r.(=)" "p.(=)" "" "0000269656" "00001372" "30" "3628" "0" "3628" "0" "c.3628G>A" "r.(?)" "p.(Gly1210Arg)" "" "0000269657" "00001372" "10" "3796" "-9" "3796" "-9" "c.3796-9G>A" "r.(=)" "p.(=)" "" "0000269658" "00001372" "30" "4060" "0" "4060" "0" "c.4060A>T" "r.(?)" "p.(Thr1354Ser)" "" "0000269659" "00001372" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000272517" "00001372" "30" "1151" "-3" "1151" "-3" "c.1151-3C>T" "r.spl?" "p.?" "" "0000272518" "00001372" "30" "5515" "0" "5515" "0" "c.5515C>T" "r.(?)" "p.(Pro1839Ser)" "" "0000272519" "00001372" "50" "625" "0" "625" "0" "c.625A>G" "r.(?)" "p.(Ile209Val)" "" "0000272520" "00001372" "30" "695" "-6" "695" "-6" "c.695-6del" "r.(=)" "p.(=)" "" "0000337438" "00001372" "10" "4543" "7" "4543" "7" "c.4543+7G>A" "r.(=)" "p.(=)" "" "0000337439" "00001372" "10" "4113" "7" "4113" "7" "c.4113+7T>C" "r.(=)" "p.(=)" "" "0000337440" "00001372" "10" "3953" "6" "3953" "6" "c.3953+6C>T" "r.(=)" "p.(=)" "" "0000337441" "00001372" "10" "3796" "-9" "3796" "-9" "c.3796-9G>A" "r.(=)" "p.(=)" "" "0000337442" "00001372" "10" "3525" "18" "3525" "18" "c.3525+18C>T" "r.(=)" "p.(=)" "" "0000337443" "00001372" "10" "2746" "-14" "2746" "-14" "c.2746-14C>T" "r.(=)" "p.(=)" "" "0000337444" "00001372" "70" "2551" "-2" "2551" "-2" "c.2551-2A>G" "r.spl?" "p.?" "" "0000337445" "00001372" "10" "2063" "7" "2063" "7" "c.2063+7G>T" "r.(=)" "p.(=)" "" "0000337447" "00001372" "10" "1828" "-5" "1828" "-5" "c.1828-5T>C" "r.spl?" "p.?" "" "0000337448" "00001372" "10" "1393" "7" "1393" "7" "c.1393+7C>T" "r.(=)" "p.(=)" "" "0000339615" "00001372" "10" "3822" "0" "3822" "0" "c.3822C>T" "r.(?)" "p.(Ile1274=)" "" "0000339616" "00001372" "30" "3261" "0" "3261" "0" "c.3261A>G" "r.(?)" "p.(Gln1087=)" "" "0000339617" "00001372" "10" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Ser891=)" "" "0000339618" "00001372" "30" "909" "0" "909" "0" "c.909T>C" "r.(?)" "p.(Asp303=)" "" "0000340659" "00001372" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Ala660=)" "" "0000340705" "00001372" "10" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Asn497=)" "" "0000340742" "00001372" "10" "1515" "0" "1515" "0" "c.1515T>C" "r.(?)" "p.(Cys505=)" "" "0000340790" "00001372" "10" "1551" "0" "1551" "0" "c.1551T>C" "r.(?)" "p.(Gly517=)" "" "0000340821" "00001372" "10" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ile199=)" "" "0000340860" "00001372" "10" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" "" "0000340890" "00001372" "10" "2403" "0" "2403" "0" "c.2403T>C" "r.(?)" "p.(Phe801=)" "" "0000340895" "00001372" "10" "4860" "0" "4860" "0" "c.4860C>T" "r.(?)" "p.(Pro1620=)" "" "0000340920" "00001372" "10" "1371" "0" "1371" "0" "c.1371T>G" "r.(?)" "p.(Pro457=)" "" "0000341560" "00001372" "10" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ala69Gly)" "" "0000341626" "00001372" "50" "2770" "0" "2770" "0" "c.2770G>T" "r.(?)" "p.(Ala924Ser)" "" "0000341804" "00001372" "90" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "" "0000341930" "00001372" "50" "4340" "0" "4340" "0" "c.4340G>A" "r.(?)" "p.(Arg1447Gln)" "" "0000341974" "00001372" "10" "4615" "0" "4615" "0" "c.4615C>T" "r.(?)" "p.(Arg1539Cys)" "" "0000342038" "00001372" "10" "4973" "0" "4973" "0" "c.4973G>A" "r.(?)" "p.(Arg1658His)" "" "0000342427" "00001372" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252His)" "" "0000344184" "00001372" "50" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Asp744Asn)" "" "0000344218" "00001372" "30" "2992" "0" "2992" "0" "c.2992G>A" "r.(?)" "p.(Asp998Asn)" "" "0000344831" "00001372" "50" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Gln416Ter)" "" "0000345916" "00001372" "10" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000346174" "00001372" "50" "1745" "0" "1745" "0" "c.1745G>C" "r.(?)" "p.(Gly582Ala)" "" "0000346534" "00001372" "10" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(His916=)" "" "0000346956" "00001372" "10" "5399" "0" "5399" "0" "c.5399T>C" "r.(?)" "p.(Leu1800Ser)" "" "0000347178" "00001372" "10" "1373" "0" "1373" "0" "c.1373T>A" "r.(?)" "p.(Leu458His)" "" "0000347316" "00001372" "50" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Leu811Phe)" "" "0000347667" "00001372" "30" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Lys88Glu)" "" "0000348249" "00001372" "10" "5515" "0" "5515" "0" "c.5515C>T" "r.(?)" "p.(Pro1839Ser)" "" "0000348794" "00001372" "10" "5570" "0" "5570" "0" "c.5570G>A" "r.(?)" "p.(Ser1857Asn)" "" "0000349879" "00001372" "50" "323" "0" "323" "0" "c.323A>G" "r.(?)" "p.(Tyr108Cys)" "" "0000349890" "00001372" "50" "3530" "0" "3530" "0" "c.3530A>T" "r.(?)" "p.(Tyr1177Phe)" "" "0000350291" "00001372" "50" "4264" "0" "4264" "0" "c.4264G>A" "r.(?)" "p.(Val1422Met)" "" "0000351006" "00001372" "10" "152" "17" "152" "17" "c.152+17G>C" "r.(=)" "p.(=)" "" "0000398476" "00001372" "70" "1046" "0" "1046" "0" "c.1046C>G" "r.(?)" "p.(Thr349Ser)" "" "0000504741" "00001372" "30" "5570" "0" "5570" "0" "c.5570G>A" "r.(?)" "p.(Ser1857Asn)" "" "0000504745" "00001372" "50" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Phe1376Ser)" "" "0000504746" "00001372" "30" "4114" "-8" "4114" "-8" "c.4114-8T>C" "r.(=)" "p.(=)" "" "0000504750" "00001372" "70" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Arg1236His)" "" "0000504752" "00001372" "10" "3053" "13" "3053" "13" "c.3053+13T>C" "r.(=)" "p.(=)" "" "0000504755" "00001372" "30" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Ser606Asn)" "" "0000504757" "00001372" "10" "1371" "0" "1371" "0" "c.1371T>G" "r.(?)" "p.(Pro457=)" "" "0000504758" "00001372" "50" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Gln416Ter)" "" "0000504759" "00001372" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000504761" "00001372" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000504762" "00001372" "50" "611" "0" "611" "0" "c.611del" "r.(?)" "p.(Leu204ProfsTer130)" "" "0000504763" "00001372" "50" "74" "0" "74" "0" "c.74C>A" "r.(?)" "p.(Pro25Gln)" "" "0000605065" "00001372" "50" "3425" "0" "3425" "0" "c.3425A>C" "r.(?)" "p.(Gln1142Pro)" "" "0000605066" "00001372" "90" "2907" "-1" "2907" "-1" "c.2907-1G>A" "r.spl?" "p.?" "" "0000605067" "00001372" "30" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Ala814Thr)" "" "0000605068" "00001372" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Gly628=)" "" "0000605070" "00001372" "30" "324" "0" "324" "0" "c.324C>T" "r.(?)" "p.(Tyr108=)" "" "0000647502" "00001372" "30" "4718" "0" "4718" "0" "c.4718C>T" "r.(?)" "p.(Thr1573Met)" "" "0000647503" "00001372" "30" "3425" "0" "3425" "0" "c.3425A>C" "r.(?)" "p.(Gln1142Pro)" "" "0000647504" "00001372" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.(Arg823Trp)" "" "0000647505" "00001372" "30" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Ser606Asn)" "" "0000647506" "00001372" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(=)" "p.(=)" "" "0000647507" "00001372" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Trp)" "" "0000647508" "00001372" "30" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ala69Gly)" "" "0000653095" "00001372" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000653845" "00001372" "30" "5570" "0" "5570" "0" "c.5570G>A" "r.(?)" "p.(Ser1857Asn)" "" "0000653846" "00001372" "30" "2228" "-14" "2228" "-14" "c.2228-14C>T" "r.(=)" "p.(=)" "" "0000653847" "00001372" "50" "296" "0" "296" "0" "c.296T>C" "r.(?)" "p.(Ile99Thr)" "" "0000664344" "00001372" "70" "3364" "0" "3364" "0" "c.3364T>C" "r.(?)" "p.(Tyr1122His)" "26" "0000668992" "00001372" "30" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ala69Gly)" "" "0000670152" "00001372" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Gly258Asp)" "" "0000675302" "00001372" "50" "665" "0" "665" "0" "c.665T>A" "r.(?)" "p.(Met222Lys)" "" "0000675353" "00001372" "50" "2365" "0" "2365" "0" "c.2365C>T" "r.(?)" "p.(Arg789Cys)" "" "0000675594" "00001372" "50" "4259" "0" "4259" "0" "c.4259T>C" "r.(?)" "p.(Leu1420Pro)" "" "0000686385" "00001372" "90" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000687984" "00001372" "70" "1087" "0" "1087" "0" "c.1087del" "r.(?)" "p.(Leu363PhefsTer5)" "" "0000697328" "00001372" "70" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.(Arg528His)" "" "0000717074" "00001372" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702Gln)" "" "0000717075" "00001372" "50" "3071" "0" "3071" "0" "c.3071T>C" "r.(?)" "p.(Ile1024Thr)" "" "0000717076" "00001372" "30" "2657" "14" "2657" "14" "c.2657+14A>G" "r.(=)" "p.(=)" "" "0000717077" "00001372" "30" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Ala814Thr)" "" "0000717078" "00001372" "10" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Ala814Thr)" "" "0000717079" "00001372" "30" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Ser516Leu)" "" "0000717080" "00001372" "50" "1382" "0" "1382" "0" "c.1382C>T" "r.(?)" "p.(Thr461Ile)" "" "0000717081" "00001372" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Asp115=)" "" "0000799003" "00001372" "30" "3525" "18" "3525" "18" "c.3525+18C>T" "r.(=)" "p.(=)" "" "0000799004" "00001372" "30" "2454" "0" "2454" "0" "c.2454G>A" "r.(?)" "p.(Ala818=)" "" "0000799005" "00001372" "30" "2361" "-11" "2361" "-11" "c.2361-11C>T" "r.(=)" "p.(=)" "" "0000799006" "00001372" "30" "2063" "7" "2063" "7" "c.2063+7G>T" "r.(=)" "p.(=)" "" "0000799007" "00001372" "30" "1619" "10" "1619" "10" "c.1619+10G>A" "r.(=)" "p.(=)" "" "0000831231" "00001372" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Ala574Thr)" "" "0000848465" "00001372" "30" "4053" "0" "4053" "0" "c.4053A>G" "r.(?)" "p.(Thr1351=)" "" "0000848466" "00001372" "30" "369" "0" "369" "0" "c.369T>C" "r.(?)" "p.(Asn123=)" "" "0000857210" "00001372" "30" "5515" "0" "5515" "0" "c.5515C>T" "r.(?)" "p.(Pro1839Ser)" "" "0000857211" "00001372" "30" "5008" "0" "5008" "0" "c.5008T>A" "r.(?)" "p.(Tyr1670Asn)" "" "0000857212" "00001372" "30" "4883" "0" "4883" "0" "c.4883T>C" "r.(?)" "p.(Leu1628Pro)" "" "0000857213" "00001372" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Leu1243=)" "" "0000857214" "00001372" "30" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Leu1153=)" "" "0000857215" "00001372" "50" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Val1064Ile)" "" "0000857216" "00001372" "10" "3053" "13" "3053" "13" "c.3053+13T>C" "r.(=)" "p.(=)" "" "0000857217" "00001372" "30" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Asp994Asn)" "" "0000857218" "00001372" "30" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(His916=)" "" "0000857219" "00001372" "30" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ala69Gly)" "" "0000872064" "00001372" "90" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Trp616Ter)" "13" "0000881138" "00001372" "70" "2627" "0" "2627" "0" "c.2627T>A" "r.(?)" "p.(Val876Glu)" "" "0000881139" "00001372" "90" "3716" "0" "3716" "0" "c.3716G>A" "r.(?)" "p.(Arg1239His)" "" "0000883042" "00001372" "30" "5554" "0" "5554" "0" "c.5554G>A" "r.(?)" "p.(Gly1852Arg)" "" "0000883043" "00001372" "30" "4686" "0" "4686" "0" "c.4686T>C" "r.(?)" "p.(Ile1562=)" "" "0000883044" "00001372" "30" "4114" "-8" "4114" "-8" "c.4114-8T>C" "r.(=)" "p.(=)" "" "0000883045" "00001372" "30" "3953" "7" "3953" "7" "c.3953+7G>A" "r.(=)" "p.(=)" "" "0000883046" "00001372" "10" "3953" "6" "3953" "6" "c.3953+6C>T" "r.(=)" "p.(=)" "" "0000883047" "00001372" "10" "2746" "-14" "2746" "-14" "c.2746-14C>T" "r.(=)" "p.(=)" "" "0000883048" "00001372" "10" "2673" "0" "2673" "0" "c.2673C>T" "r.(?)" "p.(Ser891=)" "" "0000883049" "00001372" "30" "2657" "9" "2657" "9" "c.2657+9C>T" "r.(=)" "p.(=)" "" "0000883050" "00001372" "50" "1493" "0" "1493" "0" "c.1493G>T" "r.(?)" "p.(Arg498Leu)" "" "0000883051" "00001372" "30" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Tyr484=)" "" "0000883052" "00001372" "30" "1393" "7" "1393" "7" "c.1393+7C>T" "r.(=)" "p.(=)" "" "0000910897" "00001372" "10" "3796" "-9" "3796" "-9" "c.3796-9G>A" "r.(=)" "p.(=)" "" "0000910898" "00001372" "50" "2571" "0" "2571" "0" "c.2571C>A" "r.(?)" "p.(Phe857Leu)" "" "0000923043" "00001372" "30" "5490" "0" "5497" "0" "c.5490_5497del" "r.(?)" "p.(Leu1832Argfs*67)" "" "0000923044" "00001372" "30" "3761" "0" "3761" "0" "c.3761G>A" "r.(?)" "p.(Arg1254Gln)" "" "0000923045" "00001372" "50" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Gln1087*)" "" "0000931782" "00001372" "50" "4127" "0" "4127" "0" "c.4127T>C" "r.(?)" "p.(Phe1376Ser)" "" "0000934130" "00001372" "70" "497" "0" "497" "0" "c.497C>A" "r.(?)" "p.(Ala166Asp)" "" "0000946082" "00001372" "50" "2551" "-2" "2551" "-2" "c.2551-2A>G" "r.spl" "p.?" "" "0000946083" "00001372" "50" "3530" "0" "3530" "0" "c.3530A>T" "r.(?)" "p.(Tyr1177Phe)" "" "0000946108" "00001372" "50" "1745" "0" "1745" "0" "c.1745G>C" "r.(?)" "p.(Gly582Ala)" "" "0000946139" "00001372" "30" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Gln416Ter)" "" "0000947095" "00001372" "30" "3861" "14" "3861" "14" "c.3861+14G>T" "r.(=)" "p.(=)" "" "0000947096" "00001372" "10" "3261" "0" "3261" "0" "c.3261A>G" "r.(?)" "p.(Gln1087=)" "" "0000960734" "00001372" "10" "2361" "-13" "2361" "-13" "c.2361-13C>T" "r.(=)" "p.(=)" "" "0000960735" "00001372" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Ala660=)" "" "0000960736" "00001372" "50" "1948" "1" "1948" "1" "c.1948+1G>A" "r.spl?" "p.?" "" "0000973555" "00001372" "50" "3953" "0" "3953" "0" "c.3953G>C" "r.(?)" "p.(Arg1318Thr)" "" "0000973556" "00001372" "10" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(=)" "" "0000973557" "00001372" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(=)" "" "0000973558" "00001372" "30" "1458" "0" "1458" "0" "c.1458G>A" "r.(?)" "p.(Leu486=)" "" "0000973559" "00001372" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Ter)" "" "0000973560" "00001372" "50" "625" "0" "625" "0" "c.625A>G" "r.(?)" "p.(Ile209Val)" "" "0000973561" "00001372" "50" "329" "0" "329" "0" "c.329T>A" "r.(?)" "p.(Phe110Tyr)" "" "0000990716" "00001372" "50" "4130" "0" "4131" "0" "c.4130_4131del" "r.(?)" "p.(Val1377Glyfs*8)" "" "0000990717" "00001372" "30" "1223" "0" "1223" "0" "c.1223T>C" "r.(?)" "p.(Ile408Thr)" "" "0001012276" "00001372" "50" "4025" "0" "4025" "0" "c.4025C>T" "r.(?)" "p.(Ser1342Leu)" "33" "0001013263" "00001372" "50" "2806" "0" "2806" "0" "c.2806A>G" "r.(?)" "p.(Thr936Ala)" "" "0001013264" "00001372" "10" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(=)" "" "0001013265" "00001372" "10" "2480" "0" "2480" "0" "c.2480T>C" "r.(?)" "p.(Met827Thr)" "" "0001023996" "00001372" "30" "398" "3" "398" "3" "c.398+3G>A" "r.(?)" "p.(?)" "" "0001031586" "00001372" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302Gln)" "" "0001031587" "00001372" "50" "2836" "0" "2836" "0" "c.2836G>A" "r.(?)" "p.(Gly946Ser)" "" "0001046983" "00001372" "50" "3538" "0" "3538" "0" "c.3538G>A" "r.(?)" "p.(Asp1180Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 164 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003541" "0000000209" "0000003542" "0000000210" "0000011519" "0000000210" "0000011520" "0000035138" "0000062257" "0000035139" "0000062258" "0000035140" "0000062259" "0000035141" "0000062260" "0000035142" "0000062261" "0000035143" "0000062262" "0000035144" "0000062263" "0000035145" "0000062264" "0000035146" "0000062265" "0000035147" "0000062266" "0000035148" "0000062267" "0000035149" "0000062268" "0000035150" "0000062269" "0000035151" "0000062270" "0000035152" "0000062271" "0000035153" "0000062272" "0000035154" "0000062273" "0000035155" "0000062274" "0000035156" "0000062275" "0000035157" "0000062276" "0000035158" "0000062277" "0000035159" "0000062278" "0000035160" "0000062279" "0000035161" "0000062280" "0000035162" "0000062281" "0000035163" "0000062282" "0000035164" "0000062283" "0000035165" "0000062284" "0000035166" "0000062285" "0000035167" "0000062286" "0000035168" "0000062287" "0000035169" "0000062288" "0000035170" "0000062289" "0000035171" "0000062290" "0000035172" "0000062291" "0000035173" "0000062292" "0000035174" "0000062293" "0000035175" "0000062294" "0000035176" "0000062295" "0000035177" "0000062296" "0000035178" "0000062297" "0000035179" "0000062298" "0000035180" "0000062299" "0000035181" "0000062300" "0000035182" "0000062301" "0000035183" "0000062302" "0000035184" "0000062303" "0000111152" "0000178171" "0000111152" "0000178203" "0000111152" "0000178222" "0000111152" "0000178239" "0000111153" "0000178172" "0000111153" "0000178178" "0000111153" "0000178237" "0000111154" "0000178173" "0000111154" "0000178189" "0000111154" "0000178209" "0000111155" "0000178174" "0000111155" "0000178175" "0000111155" "0000178197" "0000111156" "0000178176" "0000111156" "0000178198" "0000111156" "0000178218" "0000111156" "0000178235" "0000111157" "0000178177" "0000111157" "0000178199" "0000111157" "0000178219" "0000111157" "0000178236" "0000111158" "0000178179" "0000111158" "0000178200" "0000111158" "0000178238" "0000111159" "0000178180" "0000111159" "0000178201" "0000111159" "0000178220" "0000111159" "0000178252" "0000111160" "0000178181" "0000111160" "0000178202" "0000111161" "0000178182" "0000111161" "0000178221" "0000111162" "0000178183" "0000111162" "0000178223" "0000111163" "0000178184" "0000111163" "0000178205" "0000111164" "0000178185" "0000111164" "0000178206" "0000111164" "0000178240" "0000111165" "0000178186" "0000111165" "0000178225" "0000111166" "0000178187" "0000111166" "0000178207" "0000111167" "0000178188" "0000111167" "0000178208" "0000111168" "0000178190" "0000111168" "0000178210" "0000111169" "0000178191" "0000111169" "0000178211" "0000111169" "0000178242" "0000111170" "0000178192" "0000111170" "0000178212" "0000111171" "0000178193" "0000111171" "0000178213" "0000111172" "0000178194" "0000111172" "0000178214" "0000111172" "0000178254" "0000111173" "0000178195" "0000111173" "0000178215" "0000111174" "0000178196" "0000111174" "0000178216" "0000111174" "0000178257" "0000111175" "0000178204" "0000111175" "0000178224" "0000111176" "0000178217" "0000111176" "0000178226" "0000111177" "0000178227" "0000111179" "0000178229" "0000111180" "0000178230" "0000111181" "0000178231" "0000111182" "0000178232" "0000111183" "0000178233" "0000111184" "0000178234" "0000111185" "0000178241" "0000111186" "0000178243" "0000111187" "0000178244" "0000111188" "0000178245" "0000111188" "0000178253" "0000111189" "0000178246" "0000111190" "0000178247" "0000111191" "0000178248" "0000111192" "0000178249" "0000111193" "0000178250" "0000111194" "0000178251" "0000111195" "0000178255" "0000111196" "0000178256" "0000175658" "0000398476" "0000290813" "0000647502" "0000290814" "0000647503" "0000290815" "0000647504" "0000290816" "0000647505" "0000290817" "0000647506" "0000290818" "0000647507" "0000290819" "0000647508" "0000296406" "0000653095" "0000301411" "0000664344" "0000305304" "0000668992" "0000306464" "0000670152" "0000308344" "0000675302" "0000308344" "0000675353" "0000311097" "0000686385" "0000315239" "0000697328" "0000398929" "0000831231" "0000414373" "0000872064" "0000420779" "0000881138" "0000420780" "0000881139" "0000437031" "0000931782" "0000438507" "0000934130" "0000444225" "0000946082" "0000444226" "0000946083" "0000444252" "0000946108" "0000444283" "0000946139" "0000457730" "0001012276"