### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCN4A) # 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}}" "SCN4A" "sodium channel, voltage-gated, type IV, alpha subunit" "17" "q23.3" "unknown" "NG_011699.1" "UD_132085365775" "" "https://www.LOVD.nl/SCN4A" "" "1" "10591" "6329" "603967" "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" "http://databases.lovd.nl/shared/refseq/SCN4A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2007-09-06 00:00:00" "00006" "2021-10-05 14:58:55" "00006" "2025-11-13 13:04:16" ## 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}}" "00018521" "SCN4A" "sodium channel, voltage-gated, type IV, alpha subunit" "001" "NM_000334.4" "" "NP_000325.4" "" "" "" "-77" "7728" "5511" "62050278" "62015914" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 22 "{{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" "00726" "SCN4" "neutropenia, severe congenital, type 4, autosomal recessive (SCN-4)" "AR" "612541" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00734" "HYPP" "paralysis, periodic, hyperkalemic (HYPP)" "AD" "170500" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00735" "PMC" "paramyotonia congenita (von Eulenburg)" "AD" "168300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-11 21:49:55" "00736" "-" "myotonia congenita, atypical, acetazolamide-responsive" "AD" "608390" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00737" "CMS16" "myasthenic syndrome, congenital, type 16, acetazolamide-responsive" "AR" "614198" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-11 21:48:30" "00738" "HOKPP2" "paralysis, hypokalemic, periodic, type 2 (HOKPP-2)" "AD" "613345" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01440" "MGR1" "migraine, susceptibility 1 (MGR-1)" "AD" "157300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01457" "myotonia congenita (AR)" "myotonia congenita, autosomal dominant (Thomsen disease)" "AD" "160800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-04 15:07:51" "01500" "HOKPP" "paralysis, hypokalemic, periodic (HOKPP)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2018-06-02 17:07:18" "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" "01961" "myotonia congenita (AD)" "myotonia congenita, autosomal recessive (Becker disease)" "AR" "255700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-04 15:08:15" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05310" "myotonia" "myotonia" "AD;AR;SMo" "" "" "" "" "00006" "2017-07-24 11:41:43" "00006" "2021-12-10 21:51:32" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "07118" "CMYO22A" "myopathy, congenital, type 22A" "AR" "620351" "" "" "" "00006" "2024-11-11 21:45:52" "" "" "07119" "CMYO22B" "myopathy, congenital, type 22B" "AR" "620369" "" "" "" "00006" "2024-11-11 21:47:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "SCN4A" "00734" "SCN4A" "00735" "SCN4A" "00736" "SCN4A" "00737" "SCN4A" "00738" "SCN4A" "01500" "SCN4A" "07118" "SCN4A" "07119" ## Individuals ## Do not remove or alter this header ## ## Count = 464 "{{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}}" "00022471" "" "" "" "1" "" "00795" "" "This patient is also diagnosed with sodium channel myotonia" "M" "no" "Belgium" "" "0" "" "" "white" "" "00029633" "" "" "" "1" "" "00795" "" "" "M" "" "Belgium" "" "0" "" "" "white" "" "00029634" "" "" "" "1" "" "00795" "" "" "F" "no" "Belgium" "" "0" "" "" "white" "" "00029635" "" "" "" "1" "" "00795" "" "" "F" "no" "Belgium" "" "0" "" "" "white" "" "00029636" "" "" "" "1" "" "00795" "" "" "M" "no" "Belgium" "" "0" "" "" "white" "" "00029637" "" "" "" "1" "" "00795" "" "" "M" "no" "Belgium" "" "0" "" "" "white" "" "00036913" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036914" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036915" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036916" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036917" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036918" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036919" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036920" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036921" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036922" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036923" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036924" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036925" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036926" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036927" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036928" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036929" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036930" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036931" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036932" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036933" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036934" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036935" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036936" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036937" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036938" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036939" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036940" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036941" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036942" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036943" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036944" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036945" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036946" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036947" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036948" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036949" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036950" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036951" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036952" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036953" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036954" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036955" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00092266" "" "" "" "2" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/brother" "F" "" "United States" "" "0" "" "" "" "" "00112801" "" "" "" "1" "" "02174" "{PMID:Kubota 2011:21412952}, {DOI:Kubota 2011:10.1002/humu.21501}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "21412952-Pat" "00112802" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112803" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112804" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112805" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112806" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112807" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112808" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112809" "" "" "" "1" "" "00485" "?" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112810" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112811" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112812" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112813" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112814" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112815" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112816" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112817" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112818" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112819" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112820" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112821" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112822" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112823" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112824" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112825" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112826" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112827" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00112828" "" "" "" "1" "" "00513" "" "previous analysis of CLCN1 gene without pathogenic mutation" "M" "no" "Norway" "" "0" "" "" "" "" "00112829" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112830" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112831" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112832" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112833" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112834" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112835" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112836" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112837" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112838" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112839" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112840" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112841" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112842" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112843" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112844" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112845" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112846" "" "" "" "1" "" "02161" "Carle [2006]" "Treatment with a perfusion of KCl induced full recovery of the skeletal muscle function, and normalization of kalemia within a day." "" "" "" "" "0" "" "" "" "" "00112847" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112848" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112849" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112850" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112851" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112852" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112853" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112854" "" "" "" "1" "" "02161" "Schoser [2007]" "The myotonia becomes more severe with aging" "" "" "" "" "0" "" "" "" "" "00112855" "" "" "" "1" "" "02161" "Wang [1995]" "" "" "" "" "" "0" "" "" "" "" "00112856" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112857" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112858" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112859" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112860" "" "" "" "1" "" "02161" "Bonhours [2003]" "Slow inactivation is enhanced." "" "" "" "" "0" "" "" "" "" "00112861" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112862" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112863" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112864" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112865" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112866" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112867" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112868" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112869" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112870" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112871" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112872" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112873" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112874" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112875" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112876" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112877" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112878" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112879" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112880" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112881" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112882" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112883" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112884" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112885" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112886" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112887" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112888" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112889" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112890" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112891" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112892" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112893" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112894" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112895" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112896" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112897" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112898" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112899" "" "" "" "1" "" "02161" "Bendahhou [2000]" "enhancement of slow inactivation. The steady state fast inactivation curve shifted towards hyperpolarizing. The double mutation cancels out the two effects. The patients showed variable myotonia." "" "" "" "" "0" "" "" "" "" "00112900" "" "" "" "1" "" "02161" "Ptácek [1991]" "unusually severe interattac weakness" "" "" "" "" "0" "" "" "" "" "00112901" "" "" "" "1" "" "02161" "Sasaki [1999]" "The proband (IV-2) was a 16-year-old girl who began to experience muscle stiffness that affected her face and limbs in a cold environment, such as being outdoors in the winter (approximately 5°C-10°C), at the age of 4 years. She also experienced stiffness" "" "" "" "" "0" "" "" "" "" "00112902" "" "" "" "1" "" "02161" "Tsujino [2003]" "A 20-year-old normokalemic woman had abrupt attacks of respiratory and bulbar paralysis since birth lasting 3?30 min recurring one to three times per month. Since infancy, she has been on an apnea monitor and received ventilatory support during apneic att" "" "" "" "" "0" "" "" "" "" "00112903" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112904" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112905" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112906" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112907" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112908" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112909" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112910" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112911" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112912" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112913" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112914" "" "" "" "1" "" "02161" "Lerche [1993]" "severely affected patient suffering from hypoxia due to stifness of the respiratory muscles. Muscle stiffness was not influenced by cold but did aggravate after oral intake of K." "" "" "Netherlands" "" "0" "" "" "" "" "00112915" "" "" "" "1" "" "02161" "Kim 2004 Neuromuscul Disord 14, 727" "" "" "" "" "" "0" "" "" "" "" "00112916" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112917" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112918" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112919" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112920" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112921" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112922" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112923" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112924" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112925" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112926" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112927" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112928" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112929" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112930" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112931" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112932" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112933" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112934" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112935" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112936" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112937" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112938" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112939" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112940" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112941" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112942" "" "" "" "1" "" "02161" "Okuda [2001]" "Females show only symptoms of PC while males show symptoms of PC and HyperPP. It is suggested that the dependence of muscle fiber exitability on sex hormones or the precense of an additional membrane-stabelizing channel encoded only by the X-chromosome ca" "" "" "" "" "0" "" "" "" "" "00112943" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112944" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112945" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112946" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112947" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112948" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112949" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112950" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112951" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112952" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112953" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112954" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112955" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112956" "" "" "" "1" "" "02161" "Bendahhou [1999]" "The mutation disrupted the macroscopic current inactivation decay and shifted both steady-state activation and inactivation to the hyperpolarizing direction. The recovery from fast inactivation was slowed, and there was no effect on channel deactivation." "" "" "" "" "0" "" "" "" "" "00112957" "" "" "" "1" "" "02161" "Bulman [1997]" "" "" "" "" "" "0" "" "" "" "" "00112958" "" "" "" "1" "" "02161" "Ren [2006]" "autosomal dominant disorder characterized by episodic attacks of paralysis with different severity." "" "" "" "" "0" "" "" "" "" "00112959" "" "" "" "1" "" "02161" "Wu [2005]" "Fast inactivation was impaired for F1705I channels, A 49-year-old Caucasian man of Polish heritage complained of frequent stiffness and cramps in the arms and legs. Symptoms had been present for 15 years and were aggravated by cold weather. Muscle stiffne" "" "" "" "" "0" "" "" "" "" "00112960" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112961" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112962" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112963" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112964" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112965" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112966" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112967" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112968" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112969" "" "" "" "1" "" "02161" "Ke [2006]" "Features of R672H mutation are incomplete penetrance, especially non-penetrance of phenotype in women and potassium is effective, but acetazolamide is not." "" "" "" "" "0" "" "" "" "" "00112970" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112971" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112972" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112973" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112974" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112975" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112976" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112977" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112978" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112979" "" "" "" "1" "" "02161" "Lerche 1993, J Physiolog 470,13-22-" "" "" "" "" "" "0" "" "" "" "" "00112980" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112981" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112982" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112983" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112984" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112985" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112986" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112987" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112988" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112989" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112990" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112991" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112992" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112993" "" "" "" "1" "" "02161" "Ptácek [1993]" "It results in a PC phenotype." "" "" "" "" "0" "" "" "" "" "00112994" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112995" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112996" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112997" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112998" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00112999" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113000" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113001" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113002" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113003" "" "" "" "1" "" "02161" "McClatchey [1992]" "Age of onset is 11. Experienced weakness while resting after exercise. During pregnancy these episodes worsened. After birth she develloped hyperkalaemia. After exercise serum potassium levels were elevated and a decline of 91% in the amplitude of the com" "" "" "" "" "0" "" "" "" "" "00113004" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113005" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113006" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113007" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113008" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113009" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113010" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113011" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113012" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113013" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113014" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113015" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113016" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113017" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113018" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113019" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113020" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113021" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113022" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113023" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113024" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113025" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113026" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113027" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113028" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113029" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113030" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113031" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113032" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113033" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113034" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113035" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113036" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113037" "" "" "" "1" "" "02161" "Baquero [1995]" "" "" "" "" "" "0" "" "" "" "" "00113038" "" "" "" "1" "" "02161" "Bulman [1999]" "A 19-year-old man born to seemingly healthy, unrelated parents experienced a first paralytic attack at age 14. On awakening in the early morning hours, his leg muscles felt tight, achy, and weak so that he could hardly support his weight. On admission to" "" "" "" "" "0" "" "" "" "" "00113039" "" "" "" "1" "" "02161" "Guo [2004]" "The mutation Met1592Val does exist in Chinese patients, and lead to normoKPP. NormoKPP is similar to hyperKPP not only in clinical futures but also in genetic level." "" "" "" "" "0" "" "" "" "" "00113040" "" "" "" "1" "" "02161" "Heine [1993]" "The mutation causes myotonia aggravated by cold and potassium. The inactivation is disrupted, it has become slower." "" "" "" "" "0" "" "" "" "" "00113041" "" "" "" "1" "" "02161" "Hisama. [2005]" "A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease" "" "" "" "" "0" "" "" "" "" "00113042" "" "" "" "1" "" "02161" "Hsu [2006]" "a 23-year-old man with paralysis periodica paramyotonica. His father and a younger brother also exhibited a similar phenotype. The affected family members exhibited marked shifts in compound muscle action potential amplitudes on exercise test, and muscle" "" "" "" "" "0" "" "" "" "" "00113043" "" "" "" "1" "" "02161" "Kim [2001]" "Patients with paralysis periodica paramyotonica exhibit a clinical syndrome with characteristics of both hyperkalaemic periodic paralysis and paramyotonia congenita." "" "" "" "" "0" "" "" "" "" "00113044" "" "" "" "1" "" "02161" "Lane [2004]" "We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis." "" "" "" "" "0" "" "" "" "" "00113045" "" "" "" "1" "" "02161" "Péréon [2003]" "The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. They demonstrate that the SCN4A alpha-subunit gene is expressed in normal human heart. Ca" "" "" "" "" "0" "" "" "" "" "00113046" "" "" "" "1" "" "02161" "Plassart [1996]" "Patient BII4 experienced the first attacks of muscle weakness between ages 2 and 3. Several episodes per week occurred between early childhood and the late thirties. The frequency of attacks then decreased. Two types of paralytic episodes were distinguish" "" "" "" "" "0" "" "" "" "" "00113047" "" "" "" "1" "" "02161" "Ptácek [1992]" "" "" "" "" "" "0" "" "" "" "" "00113048" "" "" "" "1" "" "02161" "Lerche [1993]" "minor effects" "" "" "" "" "0" "" "" "" "" "00113049" "" "" "" "1" "" "02161" "McClatchey [1992]" "minor effects (according to Lerche [1993])" "" "" "" "" "0" "" "" "" "" "00113050" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113051" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113052" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113053" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113054" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113055" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113056" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113057" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113058" "" "" "" "1" "" "02161" "Jurkat-Rott [2000]" "" "" "" "" "" "0" "" "" "" "" "00113059" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113060" "" "" "" "1" "" "02161" "Ferriby [2006]" "muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat." "" "" "" "" "0" "" "" "" "" "00113061" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113062" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113063" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113064" "" "" "" "1" "" "02161" "Bulman 1997" "" "" "" "" "" "0" "" "" "" "" "00113065" "" "" "" "1" "" "02161" "Lehmann-Horn 1993" "" "" "" "" "" "0" "" "" "" "" "00113066" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113067" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113068" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113069" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113070" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113071" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113072" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113073" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113074" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113075" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113076" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113077" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113078" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113079" "" "" "" "1" "" "02161" "Koch [1995]" "myotonic stifness of the face and hand following exposure to cold." "" "" "" "" "0" "" "" "" "" "00113080" "" "" "" "1" "" "02161" "Guo [2004]" "The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP" "" "" "" "" "0" "" "" "" "" "00113081" "" "" "" "1" "" "02161" "Kim [2002]" "The proband had cold-sensitive muscle stiffness, paradoxical myotonia, and intermittent muscle weakness since childhood. The serum level of creatine kinase was mildly elevated and short exercise test with cooling revealed a drastic reduction of compound m" "" "" "" "" "0" "" "" "" "" "00113082" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113083" "" "" "" "1" "" "02161" "Rosenfeld [1997]" "debelitating pain especially severe in the intercostal muscles. The most severely affected family member responded dramatically to the sodium channel blocking agent flecainide." "" "" "" "" "0" "" "" "" "" "00113084" "" "" "" "1" "" "02161" "Kim [2004]" "Incomplete penetrance in women with Arg672Cys mutation was evident. A comparison of the present study with previous studies raises the possibility that hypokalemic periodic paralysis is an allelic-specific or mulfactorial, rather than a gene-specific, dis" "" "" "" "" "0" "" "" "" "" "00113085" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113086" "" "" "" "1" "" "02161" "Trip [2007]" "All patients noticed aggravation of myotonia at cold temperatures and only one patient reported aggravation after eating potassium rich food. They all used sodium channel blockers (mexiletine 200 mg three times a day, procainamide 1000 mg three times a da" "" "" "" "" "0" "" "" "" "" "00113087" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113088" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113089" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113090" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113091" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113092" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113093" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113094" "" "" "" "1" "" "02161" "Bendahhou [2001]" "Treatment with acetazolamide resulted in severe puadripariesis. Probably variable expression within one family" "" "" "" "" "0" "" "" "" "" "00113095" "" "" "" "1" "" "02161" "Kuzmenkin [2003]" "This is a polymorphism that does alter channel function but does not cause a disease. The entry into and the recovery are both slowed, these effect are opposing and are responsible for the benign fenotype of this polymorfism." "" "" "" "" "0" "" "" "" "" "00113096" "" "" "" "1" "" "02161" "Miller [2004]" "The patient had a combination with the benign known polymorphism S906T, which was found in 4% of healthy controls, and had a classic PC phenotype." "" "" "" "" "0" "" "" "" "" "00113097" "" "" "" "1" "" "02161" "Rojas [1991]" "" "" "" "" "" "0" "" "" "" "" "00113098" "" "" "" "1" "" "02161" "Rudel [1993]" "" "" "" "" "" "0" "" "" "" "" "00113099" "" "" "" "1" "" "02161" "Sugiura [2000]" "A 33-year-old man had noticed his first attack of paralysis at age 13. He had experienced grip, leg, and eyelid myotonia since age 25.The patient suffered from heat-induced myotonia and cold-induced paralysis." "" "" "" "" "0" "" "" "" "" "00113100" "" "" "" "1" "" "02161" "Vicart [2004]" "Remarkably, two patients experienced hypokalemic episodes of paralysis related to peculiar provocative factors (corticosteroids and thyrotoxicosis). Similarly to hyperPP, electromyography in nine patients revealed increased compound muscle action potentia" "" "" "" "" "0" "" "" "" "" "00113101" "" "" "" "1" "" "02161" "Wang [2006]" "" "" "" "" "" "0" "" "" "" "" "00113102" "" "" "" "1" "" "02161" "Wu [2001]" "The index case was 11 years old when he was first evaluated for persistent muscle stiffness provoked and worsened by cooling, but also present under warm conditions. The parents reported that he had shown ocular myotonia and hand stiffness since he was 9" "" "" "" "" "0" "" "" "" "" "00113103" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113104" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113105" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113106" "" "" "" "1" "" "02161" "Bendahhou [2001]" "Our data on the L689I mutation, together with data on the T704M mutation15 and the I693T mutation,16 show that the linker IIS4-S5 is one of the molecular determinants of sodium channel slow inactivation. In addition, our data on the L689I mutation, togeth" "" "" "" "" "0" "" "" "" "" "00113107" "" "" "" "1" "" "02161" "Leiden, unpublished" "" "" "" "Netherlands" "" "0" "" "" "" "" "00113108" "" "" "" "1" "" "02161" "Miller [2004]" "Does genotype make any difference for management options? The difference between HypoKPP, HyperKPP, and PC is usually clear on clinical grounds without genetic testing and thus management guidelines such as avoiding skipping meals in HyperKPP can be easil" "" "" "" "" "0" "" "" "" "" "00174805" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "" "F" "" "Poland" "" "0" "" "" "" "Pat197;B8" "00208553" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00208614" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00248148" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00266347" "" "" "" "1" "" "03451" "" "" "F" "" "Canada" "" "0" "" "" "Canadian" "265977" "00275576" "" "" "" "1" "" "02153" "" "" "" "" "Italy" "" "0" "" "" "" "Raffaella Brugnoni" "00275593" "" "" "" "1" "" "02153" "" "" "" "" "" "" "0" "" "" "" "" "00275594" "" "" "" "5" "" "02153" "" "" "M" "no" "Italy" "" "0" "" "" "white" "" "00275595" "" "" "" "1" "" "02153" "" "" "F" "no" "Italy" "" "0" "" "1" "" "" "00275596" "" "" "" "1" "" "02153" "" "" "F" "no" "Italy" "" "0" "" "2" "white" "" "00275597" "" "" "" "1" "" "02153" "" "" "M" "no" "Italy" "" "0" "" "2" "" "" "00275598" "" "" "" "1" "" "02153" "" "" "" "no" "Italy" "" "0" "" "" "" "" "00275599" "" "" "" "1" "" "02153" "" "" "F" "" "Italy" "" "0" "" "2" "white" "" "00275600" "" "" "" "2" "" "02153" "{PMID:Maggi 2017:28993909}" "2-generation family, affected female" "F" "no" "Italy" "" "0" "" "" "" "FamPat" "00275601" "" "" "" "1" "" "02153" "" "" "F" "no" "Italy" "" "0" "" "2" "" "" "00275602" "" "" "" "1" "" "02153" "" "" "F" "no" "Italy" "" "0" "" "2" "" "" "00286459" "" "" "00275600" "1" "" "00006" "{PMID:Maggi 2017:28993909}" "father of patient" "M" "" "Italy" "" "0" "" "" "" "FamFather" "00289354" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00291813" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291814" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291815" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291816" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295284" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295538" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295539" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295569" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295742" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295920" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00295992" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296551" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00300635" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00304594" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306773" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307121" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307204" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D16-1073" "00314442" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314443" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314444" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314445" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314446" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00316025" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam1PatII1" "00316026" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "white" "Fam2PatII1" "00316027" "" "" "" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Norway" "" "0" "" "" "white" "Fam3PatII1" "00316028" "" "" "" "2" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Canada" "" "0" "" "" "Punjabi" "Fam4PatII1" "00316029" "" "" "00316028" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "sister" "F" "no" "Canada" "<0d" "0" "" "" "Punjabi" "Fam4PatII2" "00316030" "" "" "" "3" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents" "F" "yes" "Netherlands" "<0d" "0" "" "" "Sudan" "Fam5PatII1" "00316031" "" "" "00316030" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "brother" "M" "yes" "Netherlands" "<0d" "0" "" "" "Sudan" "Fam5PatII2" "00316032" "" "" "00316030" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "sister" "F" "yes" "Netherlands" "<0d" "0" "" "" "Sudan" "Fam5PatII3" "00316033" "" "" "" "3" "" "00006" "{PMID:Zaharieva 2016:26700687}" "2-generation family, 3 affected sibs, unaffected heterozygous carrier parents" "F" "no" "Australia" "<0d" "0" "" "" "white" "Fam6PatII1" "00316034" "" "" "00316033" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "sister" "F" "no" "Australia" "<0d" "0" "" "" "white" "Fam6PatII2" "00316035" "" "" "00316033" "1" "" "00006" "{PMID:Zaharieva 2016:26700687}" "fetus" "" "no" "Australia" "<0d" "0" "" "" "white" "Fam6PatII3" "00329093" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "Germany" "" "0" "" "" "" "155454" "00329163" "" "" "" "1" "" "03996" "" "" "F" "?" "Trinidad and Tobago" ">27y" "" "" "" "African" "" "00374784" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3957" "00374840" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3901" "00377155" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "180428" "00388271" "" "" "" "1" "" "01164" "" "" "M" "no" "Austria" "" "0" "" "" "" "187118" "00399078" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P158" "00411583" "" "" "" "4" "" "02153" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "F" "no" "Italy" "" "0" "" "" "" "Pat41" "00411949" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat25" "00411950" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat26" "00411951" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat27" "00411952" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat28" "00411953" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat29" "00411954" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat30" "00411955" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat31" "00411956" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat32" "00411957" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat33" "00411958" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat34" "00411959" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat35" "00411960" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat36" "00411961" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat37" "00411962" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat38" "00411963" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "F" "" "Italy" "" "0" "" "" "" "Pat39" "00411964" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat40" "00411965" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat42" "00413092" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P4/Myo023" "00413108" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P38/Myo101" "00419494" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9101" "00423208" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "HS-1" "00423209" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "HS-2" "00423210" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "HS-3" "00423211" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "HS-4" "00423212" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "LS-1" "00423213" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "LS-2" "00423214" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "MS-1" "00423215" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "MS-2" "00423216" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "NS-1" "00423217" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "PS-1" "00423218" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "PS-2" "00423219" "" "" "" "1" "" "00006" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "" "" "Italy" "" "0" "" "" "" "QS-1" "00433481" "" "" "" "1" "" "04482" "" "" "" "" "" "" "0" "" "" "" "patient" "00435149" "" "" "" "5" "" "02153" "" "" "F" "yes" "Italy" "" "" "" "" "white" "" "00442689" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat61" "00442690" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat62" "00442691" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat63" "00442714" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat86" "00442761" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat133" "00442772" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat144" "00442798" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat170" "00455785" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat25" "00467968" "" "" "" "1" "" "00006" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "patient" "F" "" "Poland" "" "0" "" "" "" "Pat12" "00467969" "" "" "" "1" "" "00006" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "patient" "F" "" "Poland" "" "0" "" "" "" "Pat13" "00467970" "" "" "" "1" "" "00006" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "patient" "F" "" "Poland" "" "0" "" "" "" "Pat14" "00469334" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469335" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 442 "{{individualid}}" "{{diseaseid}}" "00022471" "04170" "00029633" "00198" "00029634" "00735" "00029635" "00735" "00029636" "04170" "00029637" "04170" "00036913" "00198" "00036915" 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"00112827" "00198" "00112828" "00735" "00112829" "00198" "00112830" "00198" "00112831" "00735" "00112832" "00735" "00112833" "00198" "00112834" "00198" "00112835" "00198" "00112836" "00198" "00112837" "00198" "00112838" "00198" "00112839" "00198" "00112840" "00198" "00112841" "00198" "00112842" "00198" "00112843" "01457" "00112844" "00198" "00112845" "01500" "00112846" "00735" "00112847" "00735" "00112848" "00735" "00112849" "00735" "00112850" "00198" "00112851" "00198" "00112852" "00198" "00112853" "00198" "00112854" "00198" "00112855" "00198" "00112856" "00735" "00112857" "00735" "00112858" "00735" "00112859" "00198" "00112860" "00198" "00112861" "00198" "00112862" "00198" "00112863" "00198" "00112864" "00198" "00112865" "00198" "00112866" "00735" "00112867" "00735" "00112868" "00198" "00112869" "00198" "00112870" "00198" "00112871" "00198" "00112872" "00198" "00112873" "00198" "00112874" "00198" "00112875" "00198" "00112876" "01457" "00112877" "01457" "00112878" "00198" "00112879" "00198" "00112880" "00198" "00112881" "00198" "00112882" "00198" "00112883" "00198" "00112884" "00198" "00112885" "00198" "00112886" "00198" "00112887" "00198" "00112888" "00198" "00112889" "00198" "00112890" "00735" "00112891" "00198" "00112892" "00198" "00112893" "00198" "00112894" "00198" "00112895" "00198" "00112896" "00198" "00112897" "00198" "00112898" "00198" "00112899" "00198" "00112900" "00735" "00112901" "00198" "00112902" "00198" "00112903" "00198" "00112904" "00198" "00112905" "00735" "00112906" "00735" "00112907" "00735" "00112908" "00198" "00112909" "00198" "00112910" "00198" "00112911" "00198" "00112912" "00198" "00112913" "00198" "00112914" "01500" "00112915" "00198" "00112916" "00198" "00112917" "01500" "00112918" "00734" "00112919" "00198" "00112920" "00198" "00112921" "00198" "00112922" "00198" "00112923" "00198" "00112924" "00736" "00112925" "00198" "00112926" "00198" "00112927" "00734" "00112928" "00198" "00112929" "00198" "00112930" "00198" "00112931" "00734" "00112932" "00734" "00112933" "00198" "00112934" "00198" "00112935" "00735" "00112936" "00198" "00112937" "00198" "00112938" "00198" "00112939" "00198" "00112940" "01500" "00112941" "00198" "00112942" "00198" "00112943" "00734" "00112944" "00198" "00112945" "00198" "00112946" "00198" "00112947" "00198" "00112948" "00198" "00112949" "00198" "00112950" "00735" "00112951" "00198" "00112952" "00198" "00112953" "00735" "00112954" "00198" "00112955" "00198" "00112956" "00198" "00112957" "00198" "00112958" "00198" "00112959" "00198" "00112960" "00198" "00112961" "00198" "00112962" "00198" "00112963" "00735" "00112964" "00735" "00112965" "00198" "00112966" "00736" "00112967" "00198" "00112968" "00198" "00112969" "00198" "00112970" "00198" "00112971" "00735" "00112972" "00198" "00112973" "05310" "00112974" "05310" "00112975" "00735" "00112976" "00735" "00112977" "00198" "00112978" "00735" "00112979" "00198" "00112980" "00198" "00112981" "00735" "00112982" "00735" "00112983" "00735" "00112984" "05310" "00112985" "00735" "00112986" "00735" "00112987" "00735" "00112988" "00736" "00112989" "05310" "00112990" "00735" "00112991" "00735" "00112992" "00734" "00112993" "00735" "00112994" "00198" "00112995" "00198" "00112996" "00735" "00112997" "00735" "00112998" "00735" "00112999" "00735" "00113000" "00735" "00113001" "00735" "00113002" "00198" "00113003" "00735" "00113004" "00735" "00113005" "00198" "00113006" "00198" "00113007" "00198" "00113008" "00735" "00113009" "00735" "00113010" "00735" "00113011" "00734" "00113012" "00198" "00113013" "00198" "00113014" "00198" "00113015" "00198" "00113016" "00198" "00113017" "00198" "00113018" "00198" "00113019" "00198" "00113020" "00198" "00113021" "00198" "00113022" "00198" "00113023" "00198" "00113024" "00198" "00113025" "00198" "00113026" "00198" "00113027" "00735" "00113028" "00198" "00113029" "00198" "00113030" "00198" "00113031" "00198" "00113032" "00198" "00113033" "00198" "00113034" "00198" "00113035" "00198" "00113036" "00198" "00113037" "00735" "00113038" "00735" "00113039" "00198" "00113040" "00735" "00113041" "00198" "00113042" "00198" "00113043" "00198" "00113044" "00735" "00113045" "00198" "00113046" "00735" "00113047" "00198" "00113048" "00198" "00113049" "00198" "00113050" "00198" "00113051" "00198" "00113052" "00198" "00113053" "00198" "00113054" "00198" "00113055" "00198" "00113056" "00198" "00113057" "00735" "00113058" "00198" "00113059" "00198" "00113060" "00735" "00113061" "00198" "00113062" "00198" "00113063" "00198" "00113064" "00198" "00113065" "00198" "00113066" "00198" "00113067" "00198" "00113068" "00198" "00113069" "00198" "00113070" "00735" "00113071" "00735" "00113072" "00198" "00113073" "00198" "00113074" "00198" "00113075" "00198" "00113076" "00735" "00113077" "00735" "00113078" "00198" "00113079" "00198" "00113080" "00735" "00113081" "00198" "00113082" "00198" "00113083" "00735" "00113084" "00735" "00113085" "00734" "00113086" "00735" "00113087" "00735" "00113088" "00198" "00113089" "00198" "00113090" "00198" "00113091" "00198" "00113092" "00198" "00113093" "00198" "00113094" "00735" "00113095" "05310" "00113096" "00735" "00113097" "00198" "00113098" "00735" "00113099" "00735" "00113100" "00198" "00113101" "00735" "00113102" "00198" "00113103" "00198" "00113104" "00198" "00113105" "00198" "00113106" "00198" "00113107" "00198" "00113108" "00198" "00174805" "05126" "00266347" "00726" "00275594" "00736" "00275595" "00736" "00275596" "00736" "00275597" "00736" "00275599" "00736" "00275600" "00736" "00275601" "00736" "00275602" "00736" "00286459" "00198" "00289354" "00198" "00291813" "00198" "00291814" "00198" "00291815" "00198" "00291816" "00198" "00295284" "00198" "00295538" "00198" "00295539" "00198" "00295569" "00198" "00295742" "00198" "00295920" "00198" "00295992" "00198" "00296551" "00198" "00300635" "00198" "00304594" "00198" "00306773" "00198" "00307121" "00198" "00307204" "01666" "00314442" "05126" "00314443" "05126" "00314444" "05126" "00314445" "05126" "00314446" "05126" "00316025" "00198" "00316026" "00198" "00316027" "00198" "00316028" "00198" "00316029" "00198" "00316030" "00198" "00316031" "00198" "00316032" "00198" "00316033" "00198" "00316034" "00198" "00316035" "00198" "00329093" "02087" "00329163" "00198" "00374784" "00198" "00374840" "00198" "00377155" "00735" "00388271" "00735" "00399078" "05618" "00411583" "01961" "00411949" "05310" "00411950" "05310" "00411951" "05310" "00411952" "05310" "00411953" "05310" "00411954" "05310" "00411955" "05310" "00411956" "05310" "00411957" "05310" "00411958" "05310" "00411959" "05310" "00411960" "05310" "00411961" "05310" "00411962" "05310" "00411963" "05310" "00411964" "05310" "00411965" "05310" "00413092" "00244" "00413108" "00244" "00419494" "00198" "00423208" "05310" "00423209" "05310" "00423210" "05310" "00423211" "05310" "00423212" "05310" "00423213" "05310" "00423214" "05310" "00423215" "05310" "00423216" "05310" "00423217" "05310" "00423218" "05310" "00423219" "05310" "00433481" "04312" "00435149" "05310" "00442689" "05618" "00442690" "05618" "00442691" "05618" "00442714" "05618" "00442761" "05618" "00442772" "05618" "00442798" "05618" "00455785" "00198" "00467968" "05618" "00467969" "05618" "00467970" "05618" "00469334" "00198" "00469335" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00726, 00734, 00735, 00736, 00737, 00738, 01440, 01457, 01500, 01666, 01926, 01961, 02087, 04170, 04312, 05126, 05310, 05618, 07118, 07119 ## Count = 424 "{{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}}" "0000070602" "00198" "00092266" "00006" "Familial, autosomal recessive" "" "2 sibs with IDD, congenital hypotonia, myopathy, respiratory & feeding insufficiency, abnormal EMG in both (older sib later in life improved albeit with Marfanoid dysmorphic features, kyphosis, joint hypermobility; †younger sib passed away); mitochondrial respiratory complex I, II and IV deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000088283" "05310" "00112801" "02174" "Isolated (sporadic)" "35y" "see paper; ..., sodium channel myotonia" "" "" "" "" "" "" "" "" "" "" "" "0000088284" "00198" "00112802" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088285" "00198" "00112803" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088286" "00198" "00112804" "00485" "Unknown" "" "progressive cramps while exercising, several groups of muscles affected, myotonic discharges on EMG" "" "" "" "" "" "" "" "" "" "" "" "0000088287" "00198" "00112805" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088288" "00198" "00112806" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088289" "00198" "00112807" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088290" "00198" "00112808" "00485" "Unknown" "" "atonic seizures without loss of consciousness" "" "" "" "" "" "" "" "" "" "" "" "0000088291" "00198" "00112809" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088292" "00198" "00112810" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088293" "00198" "00112811" "00485" "Unknown" "" "periodic hypokaliemic palsies" "" "" "" "" "" "" "" "" "" "" "" "0000088294" "00198" "00112812" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088295" "00198" "00112813" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088296" "00198" "00112814" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088297" "00198" "00112815" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088298" "01440" "00112816" "00485" "Unknown" "" "hemiplegic migraine, speech impediments" "" "" "" "" "" "" "" "" "" "" "" "0000088299" "00198" "00112817" "00485" "Unknown" "" "myalgia under stress" "" "" "" "" "" "" "" "" "" "" "" "0000088300" "00198" "00112818" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088301" "00198" "00112819" "00485" "Unknown" "" "progredient episodes after rest with myalgia and paresis (hands and thighs)" "" "" "" "" "" "" "" "" "" "" "" "0000088302" "00198" "00112820" "00485" "Unknown" "" "febrile seizures (even without fever, focal, easily adjustable with medication) until about the age of 11, hemiplegic migraine, now recurrent stress-dependant qualms; mother has epilepsy and due to anamnesis weakness in her legs" "" "" "" "" "" "" "" "" "" "" "" "0000088303" "00198" "00112821" "00485" "Unknown" "" "myotonia during low temperatures, distinct myotonia in the right M. deltoideus on EMG" "" "" "" "" "" "" "" "" "" "" "" "0000088304" "00198" "00112822" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088305" "00198" "00112823" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088306" "00198" "00112824" "00485" "Unknown" "" "since more than 20 years progressive cramps, now myotonic symptoms" "" "" "" "" "" "" "" "" "" "" "" "0000088307" "00198" "00112825" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088308" "00198" "00112826" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088309" "00198" "00112827" "00485" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088310" "00735" "00112828" "00513" "Isolated (sporadic)" "" "paramyotonia congenita; Congenital Myotonia" "" "" "" "" "" "" "" "" "" "" "" "0000088311" "00198" "00112829" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088312" "00198" "00112830" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088313" "00735" "00112831" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088314" "00735" "00112832" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088315" "00198" "00112833" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088316" "00198" "00112834" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088317" "00198" "00112835" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088318" "00198" "00112836" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088319" "00198" "00112837" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088320" "00198" "00112838" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088321" "00198" "00112839" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088322" "00198" "00112840" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088323" "00198" "00112841" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088324" "00198" "00112842" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088325" "01457" "00112843" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088326" "00198" "00112844" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088327" "01500" "00112845" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088328" "00735" "00112846" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088329" "00735" "00112847" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088330" "00735" "00112848" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088331" "00735" "00112849" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088332" "00198" "00112850" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088333" "00198" "00112851" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088334" "00198" "00112852" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088335" "00198" "00112853" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088336" "00198" "00112854" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088337" "00198" "00112855" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088338" "00735" "00112856" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088339" "00735" "00112857" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088340" "00735" "00112858" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088341" "00198" "00112859" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088342" "00198" "00112860" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088343" "00198" "00112861" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088344" "00198" "00112862" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088345" "00198" "00112863" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088346" "00198" "00112864" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088347" "00198" "00112865" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088348" "00735" "00112866" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088349" "00735" "00112867" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088350" "00198" "00112868" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088351" "00198" "00112869" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088352" "00198" "00112870" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088353" "00198" "00112871" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088354" "00198" "00112872" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088355" "00198" "00112873" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088356" "00198" "00112874" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088357" "00198" "00112875" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088358" "01457" "00112876" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088359" "01457" "00112877" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088360" "00198" "00112878" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088361" "00198" "00112879" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088362" "00198" "00112880" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088363" "00198" "00112881" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088364" "00198" "00112882" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088365" "00198" "00112883" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088366" "00198" "00112884" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088367" "00198" "00112885" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088368" "00198" "00112886" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088369" "00198" "00112887" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088370" "00198" "00112888" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088371" "00198" "00112889" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088372" "00735" "00112890" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088373" "00198" "00112891" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088374" "00198" "00112892" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088375" "00198" "00112893" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088376" "00198" "00112894" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088377" "00198" "00112895" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088378" "00198" "00112896" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088379" "00198" "00112897" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088380" "00198" "00112898" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088381" "00198" "00112899" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088382" "00735" "00112900" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088383" "00198" "00112901" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088384" "00198" "00112902" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088385" "00198" "00112903" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088386" "00198" "00112904" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088387" "00735" "00112905" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088388" "00735" "00112906" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088389" "00735" "00112907" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088390" "00198" "00112908" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088391" "00198" "00112909" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088392" "00198" "00112910" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088393" "00198" "00112911" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088394" "00198" "00112912" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088395" "00198" "00112913" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088396" "01500" "00112914" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088397" "00198" "00112915" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088398" "00198" "00112916" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088399" "01500" "00112917" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088400" "00734" "00112918" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088401" "00198" "00112919" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088402" "00198" "00112920" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088403" "00198" "00112921" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088404" "00198" "00112922" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088405" "00198" "00112923" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088406" "00736" "00112924" "02161" "Unknown" "" "Myotonia P" "" "" "" "" "" "" "" "" "" "" "" "0000088407" "00198" "00112925" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088408" "00198" "00112926" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088409" "00734" "00112927" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088410" "00198" "00112928" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088411" "00198" "00112929" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088412" "00198" "00112930" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088413" "00734" "00112931" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088414" "00734" "00112932" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088415" "00198" "00112933" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088416" "00198" "00112934" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088417" "00735" "00112935" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088418" "00198" "00112936" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088419" "00198" "00112937" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088420" "00198" "00112938" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088421" "00198" "00112939" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088422" "01500" "00112940" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088423" "00198" "00112941" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088424" "00198" "00112942" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088425" "00734" "00112943" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088426" "00198" "00112944" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088427" "00198" "00112945" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088428" "00198" "00112946" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088429" "00198" "00112947" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088430" "00198" "00112948" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088431" "00198" "00112949" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088432" "00735" "00112950" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088433" "00198" "00112951" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088434" "00198" "00112952" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088435" "00735" "00112953" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088436" "00198" "00112954" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088437" "00198" "00112955" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088438" "00198" "00112956" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088439" "00198" "00112957" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088440" "00198" "00112958" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088441" "00198" "00112959" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088442" "00198" "00112960" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088443" "00198" "00112961" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088444" "00198" "00112962" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088445" "00735" "00112963" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088446" "00735" "00112964" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088447" "00198" "00112965" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088448" "00736" "00112966" "02161" "Unknown" "" "Myotonia P" "" "" "" "" "" "" "" "" "" "" "" "0000088449" "00198" "00112967" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088450" "00198" "00112968" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088451" "00198" "00112969" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088452" "00198" "00112970" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088453" "00735" "00112971" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088454" "00198" "00112972" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088455" "05310" "00112973" "02161" "Unknown" "" "MF" "" "" "" "" "" "" "" "" "" "" "" "0000088456" "05310" "00112974" "02161" "Unknown" "" "Myotonia F" "" "" "" "" "" "" "" "" "" "" "" "0000088457" "00735" "00112975" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088458" "00735" "00112976" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088459" "00198" "00112977" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088460" "00735" "00112978" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088461" "00198" "00112979" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088462" "00198" "00112980" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088463" "00735" "00112981" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088464" "00735" "00112982" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088465" "00735" "00112983" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088466" "05310" "00112984" "02161" "Unknown" "" "Myotonia F" "" "" "" "" "" "" "" "" "" "" "" "0000088467" "00735" "00112985" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088468" "00735" "00112986" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088469" "00735" "00112987" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088470" "00736" "00112988" "02161" "Unknown" "" "PAM" "" "" "" "" "" "" "" "" "" "" "" "0000088471" "05310" "00112989" "02161" "Unknown" "" "Myotonia F" "" "" "" "" "" "" "" "" "" "" "" "0000088472" "00735" "00112990" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088473" "00735" "00112991" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088474" "00734" "00112992" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088475" "00735" "00112993" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088476" "00198" "00112994" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088477" "00198" "00112995" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088478" "00735" "00112996" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088479" "00735" "00112997" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088480" "00735" "00112998" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088481" "00735" "00112999" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088482" "00735" "00113000" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088483" "00735" "00113001" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088484" "00198" "00113002" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088485" "00735" "00113003" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088486" "00735" "00113004" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088487" "00198" "00113005" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088488" "00198" "00113006" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088489" "00198" "00113007" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088490" "00735" "00113008" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088491" "00735" "00113009" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088492" "00735" "00113010" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088493" "00734" "00113011" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088494" "00198" "00113012" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088495" "00198" "00113013" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088496" "00198" "00113014" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088497" "00198" "00113015" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088498" "00198" "00113016" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088499" "00198" "00113017" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088500" "00198" "00113018" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088501" "00198" "00113019" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088502" "00198" "00113020" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088503" "00198" "00113021" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088504" "00198" "00113022" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088505" "00198" "00113023" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088506" "00198" "00113024" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088507" "00198" "00113025" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088508" "00198" "00113026" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088509" "00735" "00113027" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088510" "00198" "00113028" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088511" "00198" "00113029" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088512" "00198" "00113030" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088513" "00198" "00113031" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088514" "00198" "00113032" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088515" "00198" "00113033" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088516" "00198" "00113034" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088517" "00198" "00113035" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088518" "00198" "00113036" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088519" "00735" "00113037" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088520" "00735" "00113038" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088521" "00198" "00113039" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088522" "00735" "00113040" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088523" "00198" "00113041" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088524" "00198" "00113042" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088525" "00198" "00113043" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088526" "00735" "00113044" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088527" "00198" "00113045" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088528" "00735" "00113046" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088529" "00198" "00113047" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088530" "00198" "00113048" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088531" "00198" "00113049" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088532" "00198" "00113050" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088533" "00198" "00113051" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088534" "00198" "00113052" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088535" "00198" "00113053" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088536" "00198" "00113054" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088537" "00198" "00113055" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088538" "00198" "00113056" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088539" "00735" "00113057" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088540" "00198" "00113058" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088541" "00198" "00113059" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088542" "00735" "00113060" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088543" "00198" "00113061" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088544" "00198" "00113062" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088545" "00198" "00113063" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088546" "00198" "00113064" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088547" "00198" "00113065" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088548" "00198" "00113066" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088549" "00198" "00113067" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088550" "00198" "00113068" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088551" "00198" "00113069" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088552" "00735" "00113070" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088553" "00735" "00113071" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088554" "00198" "00113072" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088555" "00198" "00113073" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088556" "00198" "00113074" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088557" "00198" "00113075" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088558" "00735" "00113076" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088559" "00735" "00113077" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088560" "00198" "00113078" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088561" "00198" "00113079" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088562" "00735" "00113080" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088563" "00198" "00113081" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088564" "00198" "00113082" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088565" "00735" "00113083" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088566" "00735" "00113084" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088567" "00734" "00113085" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088568" "00735" "00113086" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088569" "00735" "00113087" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088570" "00198" "00113088" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088571" "00198" "00113089" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088572" "00198" "00113090" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088573" "00198" "00113091" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088574" "00198" "00113092" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088575" "00198" "00113093" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088576" "00735" "00113094" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088577" "05310" "00113095" "02161" "Unknown" "" "Myotonia F" "" "" "" "" "" "" "" "" "" "" "" "0000088578" "00735" "00113096" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088579" "00198" "00113097" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088580" "00735" "00113098" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088581" "00735" "00113099" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088582" "00198" "00113100" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088583" "00735" "00113101" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088584" "00198" "00113102" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088585" "00198" "00113103" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088586" "00198" "00113104" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088587" "00198" "00113105" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088588" "00198" "00113106" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088589" "00198" "00113107" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088590" "00198" "00113108" "02161" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089037" "04170" "00022471" "00795" "Unknown" "" "patient is also diagnosed with sodium channel myotonia" "" "" "" "" "" "" "" "" "" "" "" "0000139632" "05126" "00174805" "00006" "Isolated (sporadic)" "9y" "CPK raised 20x; asymptomatic hyper-CKmia" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000156752" "00198" "00036913" "01164" "Unknown" "" "suspected myotonia congenita type Thomsen, DD paramyotonia type Eulenburg" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156753" "00198" "00036915" "01164" "Unknown" "" "suspected myotonic dystrophy type I., since childhood muscle stiffness, paternal aunt, grand-mother and both children are also affected, myotonia, paresis of both legs" "" "" "" "" "" "" "" "" "" "myotnic dystrophy?" "" "0000156754" "00198" "00036916" "01164" "Unknown" "" "suspected paramyotonia congenita, DD myotonia congenita: myasthenia" "" "" "" "" "" "" "" "" "" "paramyotonia congenita?" "" "0000156755" "00198" "00036917" "01164" "Unknown" "" "suspected clinical myotonia congenita in early childhood; mother, uncle and aunt and children of the maternal aunt: clinical myotonia congenita" "" "" "" "" "" "" "" "" "" "myotonia congenita?" "" "0000156756" "00198" "00036920" "01164" "Unknown" "" "suspected myotonia fluctuans, DD paramyotonia congenita, myotonia, paramyotonia" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156757" "00198" "00036921" "01164" "Unknown" "" "paramyotonia congenita" "" "" "" "" "" "" "" "" "" "paramyotonia" "" "0000156758" "00198" "00036922" "01164" "Unknown" "" "hypokalemic periodic paralysis" "" "" "" "" "" "" "" "" "" "hyperkalaemic periodic paralysis" "" "0000156759" "00198" "00036924" "01164" "Unknown" "" "suspected paramyotonia congenita Eulenburg" "" "" "" "" "" "" "" "" "" "paramyotonia congenita Eulenburg?" "" "0000156760" "01926" "00036925" "01164" "Unknown" "" "muscle disease" "" "" "" "" "" "" "" "" "" "muscle disease" "" "0000156761" "00198" "00036926" "01164" "Unknown" "" "myotonia" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156762" "00198" "00036927" "01164" "Unknown" "" "myotonia" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156763" "00198" "00036929" "01164" "Unknown" "" "myotonia,family history: father possibly affected" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156764" "00198" "00036930" "01164" "Unknown" "" "suspected myotonia congenita, DD potassium-sensitive myotonia, myalgia, muscle cramps" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156765" "01926" "00036931" "01164" "Unknown" "" "mother: myotonia; son: muscle pain (cramps in hand- and foot muscles" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156766" "00198" "00036932" "01164" "Unknown" "" "suspected myotonia" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156767" "00198" "00036933" "01164" "Unknown" "" "suspected myotonic disease" "" "" "" "" "" "" "" "" "" "myotnic dystrophy?" "" "0000156768" "00198" "00036934" "01164" "Unknown" "" "suspected myotonia congenita Becker or Thomsen" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156769" "00198" "00036935" "01164" "Unknown" "" "rez. Tetraplegien" "" "" "" "" "" "" "" "" "" "hyperkalemic paralysis" "" "0000156770" "00198" "00036936" "01164" "Unknown" "" "V.a. Paramyotonia Congenita, Vater sister and her child also affected" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156771" "00198" "00036937" "01164" "Unknown" "" "myotonic symptoms (clinically and EMG); family history: positive" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156772" "00198" "00036938" "01164" "Unknown" "" "son: febrile cramps; mother: has epilepsy, in her youth leg weakness" "" "" "" "" "" "" "" "" "" "cramps" "" "0000156773" "00198" "00036939" "01164" "Unknown" "" "suspected hyperkaliämische Hyperkaliämie, periodic paralysis, clinical symptoms after activity, muscle pain,myasthenia and paralysis in the arms ; other patient: suspected paramyotonia congenita type Eulenburg, DD Myotonica congenita Becker, mother also affected" "" "" "" "" "" "" "" "" "" "hyper/hypokalemic paralysis?" "" "0000156774" "00198" "00036941" "01164" "Unknown" "" "hyperkalaemic periodic (familiar) paralysis; MGZ #67697: clinical hyperkalaemic periodic paralysis; family history: positive, also affected: mother, 2 sisters, daughter, grand-child; MGZ #67806: myotonia" "" "" "" "" "" "" "" "" "" "hyperkalaemic periodic paralysis" "" "0000156775" "00198" "00036944" "01164" "Unknown" "" "myotonic myopathy; paresis dorsal (left),cataract, cardiac insufficiency, cardiac arrhythmias" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000156776" "00198" "00036945" "01164" "Unknown" "" "suspected myotonia congenita, since the 11th year of life intermitted short myotonic reactions (1-6 seconds)" "" "" "" "" "" "" "" "" "" "myotonia?" "" "0000156777" "00198" "00036947" "01164" "Unknown" "" "myotonia; other patient: muscle dystrophy type Becker" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000156778" "00198" "00036948" "01164" "Unknown" "" "paramyotonia congenita" "" "" "" "" "" "" "" "" "" "paramyotonia" "" "0000157225" "00198" "00208553" "01164" "Unknown" "" "HP:0001270 (Motor delay); HP:0000508 (Ptosis)" "" "" "" "" "" "" "" "" "" "" "" "0000157241" "00198" "00208614" "01164" "Unknown" "" "HP:0001332 (Dystonia)" "" "" "" "" "" "" "" "" "" "" "" "0000187149" "00198" "00248148" "01164" "Unknown" "" "HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology)" "" "" "" "" "" "" "" "" "" "" "" "0000187173" "04170" "00029637" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRGDA" "myotonia congenita" "" "0000187174" "04170" "00029636" "00006" "Unknown" "" "individual has also typical myotonia symptoms" "" "" "" "" "" "" "" "" "BRGDA" "" "" "0000187175" "00735" "00029634" "00006" "Unknown" "" "ndividual has an overlap syndrome paramyotonia congenita combined with sodium channel myotonia" "" "" "" "" "" "" "" "" "" "" "" "0000187176" "00198" "00029633" "00795" "Unknown" "" "diagnosed with sodium channel myotonia; syncopes and non-sustained ventricular tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000220315" "00736" "00275600" "00006" "Unknown" "26y" "see paper; ..., occasional episodes of transient lower limb muscle weakness when standing up after prolonged rest, symptoms markedly worsened with cold and improved with exercise" "18y" "" "fatigue/painful stiffness upper/lower limbs (hand and thigh muscles)" "" "" "" "" "" "" "" "" "0000220317" "00198" "00286459" "00006" "Unknown" "53y" "see paper; ..., mild and painful muscle stiffness hands since young age; neurological examination showed percussion myotonia hands and calves and diffuse myotonic discharges on EMG; ET displayed same pattern as affected daughter; no eye closure myotonia" "" "" "" "" "" "" "" "" "" "" "" "0000222973" "00198" "00289354" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Elevated serum creatine phosphokinase (HP:0003236); Myalgia (HP:0003326); Shoulder girdle muscle weakness (HP:0003547); Scapular winging (HP:0003691); Abnormal levels of creatine kinase in blood (HP:0040081)" "" "" "" "" "" "" "" "" "" "" "" "0000223103" "00198" "00295538" "01164" "Unknown" "" "Muscle weakness (HP:0001324); Periodic paralysis (HP:0003768)" "" "" "" "" "" "" "" "" "" "" "" "0000223104" "00198" "00295539" "01164" "Unknown" "" "Myotonia (HP:0002486)" "" "" "" "" "" "" "" "" "" "" "" "0000223134" "00198" "00295569" "01164" "Unknown" "" "Myotonia (HP:0002486); Abnormality of the musculature (HP:0003011)" "" "" "" "" "" "" "" "" "" "" "" "0000223260" "00198" "00295742" "01164" "Unknown" "" "Abnormality of the musculature (HP:0003011); Myalgia (HP:0003326)" "" "" "" "" "" "" "" "" "" "" "" "0000223396" "00198" "00295920" "01164" "Unknown" "" "Muscle weakness (HP:0001324); Periodic paralysis (HP:0003768)" "" "" "" "" "" "" "" "" "" "" "" "0000223459" "00198" "00295992" "01164" "Unknown" "" "Myotonia (HP:0002486); Abnormality of the musculature (HP:0003011)" "" "" "" "" "" "" "" "" "" "" "" "0000223958" "00198" "00296551" "01164" "Unknown" "" "Abnormality of muscle physiology (HP:0011804); Muscle weakness (HP:0001324)" "" "" "" "" "" "" "" "" "" "" "" "0000227946" "00198" "00300635" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Talipes equinovarus (HP:0001762); Headache (HP:0002315); Multiple joint contractures (HP:0002828); Hearing impairment (HP:0000365); Short stature (HP:0004322); Sensorimotor neuropathy (HP:0007141); Mixed demyelinating and axonal polyneuropathy (HP:0007327)" "" "" "" "" "" "" "" "" "" "" "" "0000232601" "00198" "00306773" "01164" "Unknown" "" "Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000232926" "00198" "00307121" "01164" "Unknown" "" "Abnormality of the musculature (HP:0003011); Rhabdomyolysis (HP:0003201); EMG abnormality (HP:0003457); Myotonia (HP:0002486); Elevated serum creatine phosphokinase (HP:0003236); Muscle stiffness (HP:0003552)" "" "" "" "" "" "" "" "" "" "" "" "0000233009" "01666" "00307204" "00534" "Familial, autosomal recessive" "" "distal arthrogryposis; polyhydramnios" "" "" "" "" "" "" "" "" "" "fetal akinesia deformation sequence" "" "0000239770" "00198" "00316025" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors, abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000239771" "00198" "00316026" "00006" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000239772" "00198" "00316027" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000239773" "00198" "00316028" "00006" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000239774" "00198" "00316029" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 40w gestation" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000239775" "00198" "00316030" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 33w gestation" "" "" "" "" "" "" "" "" "" "" "" "0000239776" "00198" "00316031" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 31w gestation" "" "" "" "" "" "" "" "" "" "" "" "0000239777" "00198" "00316032" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 36w gestation" "" "" "" "" "" "" "" "" "" "" "" "0000239778" "00198" "00316033" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 29w gestation; amyoplasia (lethal); arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "" "" "0000239779" "00198" "00316034" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 32w gestation; amyoplasia (lethal); arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "" "" "0000239780" "00198" "00316035" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased 28w gestation; amyoplasia (lethal); arthrogryposis multiplex congenita" "" "" "" "" "" "" "" "" "" "" "" "0000247290" "02087" "00329093" "01164" "Unknown" "" "SIDS" "00y01m" "" "" "" "" "" "" "" "" "" "" "0000247348" "00198" "00329163" "03996" "Unknown" "" "abnormal blood potassium concentration (HP:0011042), laryngospasm (HP:0025425), delayed gross motor development (HP:0002194), myotonia (HP:0002486), dyspnea (HP:0002094), high palate (HP:0000218), hypertonia (HP:0001276), abnormality of eye movement (HP:0000496), myopathy (HP:0003198), muscle weakness (HP:0001324), abnormality of the musculature of the upper limbs (HP:0001446), muscle stiffness (HP:0003552), paralysis (HP:0003470), mildly elevated creatine kinase (HP:0008180), exertional dyspnea (HP:0002875), muscle spasm (HP:0003394), emg abnormality (HP:0003457), gait disturbance (HP:0001288), skeletal muscle hypertrophy (HP:0003712), limitation of joint mobility (HP:0001376), abnormality of the voice (HP:0001608), cold-sensitive myotonia (HP:0012904), apneic episodes in infancy (HP:0005949), generalized muscle hypertrophy (HP:0003720), cold paresis (HP:0031372), apnea (HP:0002104), handgrip myotonia (HP:0012899), ophthalmoplegia (HP:0000602), EMG: myopathic abnormalities (HP:0003458), percussion myotonia (HP:0010548), myotonia of the jaw (HP:0012901), external ophthalmoplegia (HP:0000544), myotonia of the face (HP:0012900), motor delay (HP:0001270), paradoxical myotonia (HP:0011809), ptosis (HP:0000508), respiratory paralysis (HP:0002203), myotonia of the upper limb (HP:0012903), elevated serum creatine kinase (HP:0003236), diplopia (HP:0000651), fatigable weakness of respiratory muscles (HP:0030196), ophthalmoparesis (HP:0000597), emg: myotonic runs (HP:0003730), myotonia with warm phenomenon (HP:0003740), lid lag on downgaze (HP:0025605), infantile onset (HP:0003593)" "" "" "" "" "" "" "" "" "" "" "" "0000269994" "00198" "00374784" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "myotonia" "" "0000270050" "00198" "00374840" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, spasticity" "" "0000272318" "00735" "00377155" "01164" "Unknown" "" "Muscle weakness, Paraparesis, Distal muscle weakness, EMG abnormality, Proximal muscle weakness, Paraplegia/paraparesis, EMG: myotonic discharges" "" "" "" "" "" "" "" "" "72y" "" "" "0000281826" "00735" "00388271" "01164" "Familial, autosomal dominant" "46y" "Myotonia, clinically paramyotonia congenita, daughter with similar syptomatics" "" "" "" "" "" "" "" "" "" "" "" "0000292166" "05618" "00399078" "00006" "Unknown" "" "serum CK below200 U/L; muscle biopsy myopathic changes; facial hypomimia, limb-girdle weakness (many glutei),fatigability, no response to mestinon" "<1m" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000303949" "01961" "00411583" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis" "16y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303976" "05310" "00411949" "00006" "Unknown" "" "myotonia; EMG myotonia; myopathy eyes, myopathy hands; no muscle weakness; no muscle hypertrophy; myopathy painful; no episodic paralysis" "14y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303977" "05310" "00411950" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; paradoxical myotonia; myopathy upper limbs, myopathy low limbs; no muscle weakness; muscle hypertrophy thighs; myopathy not painful; no episodic paralysis" "" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303978" "05310" "00411951" "00006" "Unknown" "" "myotonia; myopathy hands, myopathy tongue, myopathy masseter; no muscle weakness; generalized muscle hypertrophy; myopathy not painful; no episodic paralysis" "11y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303979" "05310" "00411952" "00006" "Unknown" "" "myotonia; EMG myotonia; warm-up phenomenon; myopathy upper limbs, myopathy orb oculi; no muscle weakness; generalized muscle hypertrophy; myopathy not painful; no episodic paralysis" "25y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303980" "05310" "00411953" "00006" "Unknown" "" "myotonia; EMG myotonia; warm-up phenomenon; myopathy hands, myopathy trunk, myopathy low limbs; no muscle weakness; muscle hypertrophy calves; myopathy painful; no episodic paralysis" "40y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303981" "05310" "00411954" "00006" "Familial, autosomal dominant" "" "myotonia; EMG no myotonia; myopathy eyes, myopathy hands; generalized muscle hypertrophy; myopathy not painful; no episodic paralysis" "38y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303982" "05310" "00411955" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; warm-up phenomenon; myopathy masseter; no muscle weakness; muscle hypertrophy proximal upper and lower limbs; myopathy painful; no episodic paralysis" "5y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303983" "05310" "00411956" "00006" "Unknown" "" "myotonia; myopathy eyes, myopathy hands; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis" "5y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303984" "05310" "00411957" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; paradoxical myotonia; myopathy hands, myopathy facial muscles; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis" "6y" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303985" "05310" "00411958" "00006" "Familial, autosomal dominant" "" "myotonia; paradoxical myotonia; myopathy hands, myopathy facial muscles, parhyngeal myopathy; myopathy not painful;" "" "" "" "" "" "" "" "" "" "non-dystrophic myotonia" "" "0000303986" "05310" "00411959" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; myopathy hands, myopathy orbicularis;" "4y" "" "" "" "" "" "" "" "PGL5" "non-dystrophic myotonia" "" "0000303987" "05310" "00411960" "00006" "Unknown" "" "EMG no myotonia; no warm-up phenomenon/paradoxical myotonia; no myopathy; no muscle weakness; no muscle hypertrophy; myopathy not painful; no episodic paralysis" "5y" "" "" "" "" "" "" "" "PGL1" "non-dystrophic myotonia" "" "0000303988" "05310" "00411961" "00006" "Unknown" "" "periodic paralysis; no warm-up phenomenon/paradoxical myotonia; no myopathy; no muscle weakness; no muscle hypertrophy; myopathy not painful; episodic paralysis" "15y" "" "" "" "" "" "" "" "PGL1" "non-dystrophic myotonia" "" "0000303989" "05310" "00411962" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; myopathy hands, myopathy facial muscles; no muscle weakness; generalized muscle hypertrophy; myopathy painful; episodic paralysis" "12y" "" "" "" "" "" "" "" "ATS3" "non-dystrophic myotonia" "" "0000303990" "05310" "00411963" "00006" "Unknown" "" "myotonia; EMG myotonia; myopathy hands, myopathy tong, myopathy orb oculi, myopathy feet; no muscle weakness; no muscle hypertrophy; no episodic paralysis" "5y" "" "" "" "" "" "" "" "BFH" "non-dystrophic myotonia" "" "0000303991" "05310" "00411964" "00006" "Familial, autosomal dominant" "" "myotonia; EMG myotonia; warm-up phenomenon; myopathy hands, myopathy lower limbs; no muscle weakness; no muscle hypertrophy; myopathy painful; episodic paralysis" "5y" "" "" "" "" "" "" "" "CADASIL2" "non-dystrophic myotonia" "" "0000303992" "05310" "00411965" "00006" "Familial, autosomal recessive" "" "myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; myopathy hands, myopathy lower limbs; no muscle weakness; muscle hypertrophy proximal upper and lower limbs; myopathy painful; no episodic paralysis" "27y" "" "" "" "" "" "" "" "MWS" "non-dystrophic myotonia" "" "0000305073" "00244" "00413092" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital paramyotonia" "hCK" "" "0000305089" "00244" "00413108" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital paramyotonia" "hCK, myalgia" "" "0000310775" "00198" "00419494" "02300" "Isolated (sporadic)" "14y" "" "" "" "" "" "" "" "" "" "" "neuromuscular abnormality" "" "0000314412" "05310" "00423208" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314413" "05310" "00423209" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314414" "05310" "00423210" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314415" "05310" "00423211" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314416" "05310" "00423212" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314417" "05310" "00423213" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314418" "05310" "00423214" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314419" "05310" "00423215" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314420" "05310" "00423216" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314421" "05310" "00423217" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314422" "05310" "00423218" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000314423" "05310" "00423219" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "myotonia congenita, atypical" "myotonia" "" "0000323953" "04312" "00433481" "04482" "Familial, autosomal recessive" "" "myopathy, congenital" "" "" "" "" "" "" "" "" "" "" "" "0000332036" "05618" "00442689" "00006" "Familial, autosomal recessive" "2y" "Axial and proximal weakness, in need of CPAP during early infancy; muscle biopsy: increase in internal nuclei with increased endomysial fibrosis; CK = 62 U/l" "1d" "" "" "" "" "" "" "" "" "Muscle weakness, respiratory symptoms, feeding difficulties" "" "0000332037" "05618" "00442690" "00006" "Familial, autosomal recessive" "34y" "Generalized muscle weakness: elongated face, facial weakness, high palate, nasal voice, ptosis, mildly reduced respiratory function (83%); muscle biopsy: increase in fiber size variation, increase in internal nuclei; CK within normal range" "1d" "" "" "" "" "" "" "" "" "Congenital myopathy" "" "0000332038" "05618" "00442691" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Limb girdle muscle weakness" "" "0000332061" "05618" "00442714" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Ptosis, opthalmoplegia, congenitale myopathy" "" "0000332108" "05618" "00442761" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Myalgia, facial weakness" "" "0000332119" "05618" "00442772" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital myopathy" "" "0000332145" "05618" "00442798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Foetal akinesia" "" "0000344318" "00198" "00455785" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PMC" "neurogenetic diseases" "" "0000353120" "05618" "00467968" "00006" "Unknown" "1y" "" "1d" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000353121" "05618" "00467969" "00006" "Familial, autosomal dominant" "65y" "" "1d" "" "" "" "" "" "" "" "myotonia congenita" "neuromuscular disorder" "" "0000353122" "05618" "00467970" "00006" "Familial, autosomal dominant" "2y" "" "1d" "" "" "" "" "" "" "" "myotonia congenita" "neuromuscular disorder" "" "0000354487" "00198" "00469334" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000354488" "00198" "00469335" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 469 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029676" "00029633" "1" "00795" "00795" "2015-01-23 16:15:34" "" "" "SEQ" "DNA" "" "" "0000029677" "00029634" "1" "00795" "00795" "2015-01-23 16:19:30" "" "" "SEQ" "DNA" "" "" "0000029678" "00029635" "1" "00795" "00795" "2015-01-23 16:27:28" "" "" "SEQ" "DNA" "" "" "0000029679" "00029636" "1" "00795" "00795" "2015-01-23 16:30:47" "" "" "SEQ" "DNA" "" "" "0000029680" "00029637" "1" "00795" "00795" "2015-01-23 16:37:51" "" "" "SEQ" "DNA" "" "" "0000036983" "00036913" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036984" "00036914" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036985" "00036915" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036986" "00036916" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036987" "00036917" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036988" "00036918" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036989" "00036919" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036990" "00036920" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036991" "00036921" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036992" "00036922" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036993" "00036923" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036994" "00036924" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036995" "00036925" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036996" "00036926" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036997" "00036927" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036998" "00036928" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036999" "00036929" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037000" "00036930" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037001" "00036931" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037002" "00036932" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037003" "00036933" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037004" "00036934" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037005" "00036935" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037006" "00036936" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037007" "00036937" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037008" "00036938" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037009" "00036939" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037010" "00036940" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037011" "00036941" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037012" "00036942" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037013" "00036943" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037014" "00036944" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037015" "00036945" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037016" "00036946" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037017" "00036947" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037018" "00036948" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037019" "00036949" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037020" "00036950" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037021" "00036951" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037022" "00036952" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037023" "00036953" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037024" "00036954" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037025" "00036955" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047717" "00029637" "1" "00795" "00795" "2015-08-26 12:07:32" "" "" "SEQ" "DNA" "" "" "0000047718" "00029636" "1" "00795" "00795" "2015-08-26 12:14:16" "" "" "SEQ" "DNA" "Blood" "" "0000047719" "00029635" "1" "00795" "00795" "2015-08-26 12:21:15" "" "" "SEQ" "DNA" "Blood" "" "0000047720" "00029634" "1" "00795" "00795" "2015-08-26 12:28:23" "" "" "SEQ" "DNA" "Blood" "" "0000047721" "00029633" "1" "00795" "00795" "2015-08-26 12:35:01" "" "" "SEQ" "DNA" "Blood" "" "0000047722" "00022471" "1" "00795" "00795" "2015-08-26 12:40:05" "" "" "SEQ" "DNA" "Blood" "" "0000092407" "00092266" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000113259" "00112801" "1" "02174" "02174" "2011-02-11 06:33:04" "00006" "2017-08-05 12:25:14" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000113260" "00112802" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113261" "00112803" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113262" "00112804" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113263" "00112805" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113264" "00112806" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113265" "00112807" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113266" "00112808" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113267" "00112809" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113268" "00112810" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113269" "00112811" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113270" "00112812" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113271" "00112813" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113272" "00112814" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113273" "00112815" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113274" "00112816" "1" "00485" "00485" "2009-10-30 18:10:28" "00006" "2010-10-23 11:29:52" "SEQ" "DNA" "" "" "0000113275" "00112817" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113276" "00112818" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113277" "00112819" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113278" "00112820" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113279" "00112821" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113280" "00112822" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113281" "00112823" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113282" "00112824" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113283" "00112825" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113284" "00112826" "1" "00485" "00485" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113285" "00112827" "1" "00485" "00485" "2009-10-30 18:10:28" "" "" "SEQ" "DNA" "" "" "0000113286" "00112828" "1" "00513" "00513" "2014-05-14 14:24:23" "" "" "SEQ" "DNA" "" "" "0000113287" "00112829" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113288" "00112830" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113289" "00112831" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113290" "00112832" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113291" "00112833" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113292" "00112834" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113293" "00112835" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113294" "00112836" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113295" "00112837" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113296" "00112838" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113297" "00112839" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113298" "00112840" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113299" "00112841" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113300" "00112842" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113301" "00112843" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113302" "00112844" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113303" "00112845" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:54:04" "SEQ" "DNA" "" "" "0000113304" "00112846" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113305" "00112847" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113306" "00112848" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113307" "00112849" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113308" "00112850" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113309" "00112851" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113310" "00112852" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113311" "00112853" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113312" "00112854" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113313" "00112855" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113314" "00112856" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113315" "00112857" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113316" "00112858" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113317" "00112859" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113318" "00112860" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113319" "00112861" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113320" "00112862" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113321" "00112863" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113322" "00112864" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113323" "00112865" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113324" "00112866" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113325" "00112867" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113326" "00112868" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113327" "00112869" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113328" "00112870" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113329" "00112871" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113330" "00112872" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113331" "00112873" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113332" "00112874" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113333" "00112875" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113334" "00112876" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113335" "00112877" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113336" "00112878" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113337" "00112879" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113338" "00112880" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113339" "00112881" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113340" "00112882" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113341" "00112883" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113342" "00112884" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113343" "00112885" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113344" "00112886" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113345" "00112887" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113346" "00112888" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113347" "00112889" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113348" "00112890" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113349" "00112891" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113350" "00112892" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113351" "00112893" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113352" "00112894" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113353" "00112895" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113354" "00112896" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113355" "00112897" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113356" "00112898" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113357" "00112899" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113358" "00112900" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113359" "00112901" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113360" "00112902" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113361" "00112903" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113362" "00112904" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113363" "00112905" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113364" "00112906" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113365" "00112907" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113366" "00112908" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113367" "00112909" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113368" "00112910" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113369" "00112911" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113370" "00112912" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113371" "00112913" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113372" "00112914" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:54:04" "SEQ" "DNA" "" "" "0000113373" "00112915" "1" "02161" "02161" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113374" "00112916" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113375" "00112917" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:54:04" "SEQ" "DNA" "" "" "0000113376" "00112918" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113377" "00112919" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113378" "00112920" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113379" "00112921" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113380" "00112922" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113381" "00112923" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113382" "00112924" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113383" "00112925" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113384" "00112926" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113385" "00112927" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113386" "00112928" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113387" "00112929" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113388" "00112930" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113389" "00112931" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113390" "00112932" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113391" "00112933" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113392" "00112934" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113393" "00112935" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113394" "00112936" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113395" "00112937" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113396" "00112938" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113397" "00112939" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113398" "00112940" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:54:04" "SEQ" "DNA" "" "" "0000113399" "00112941" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113400" "00112942" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113401" "00112943" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113402" "00112944" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113403" "00112945" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113404" "00112946" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113405" "00112947" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113406" "00112948" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113407" "00112949" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113408" "00112950" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113409" "00112951" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113410" "00112952" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113411" "00112953" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113412" "00112954" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113413" "00112955" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113414" "00112956" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113415" "00112957" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113416" "00112958" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113417" "00112959" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113418" "00112960" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113419" "00112961" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113420" "00112962" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113421" "00112963" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113422" "00112964" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113423" "00112965" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113424" "00112966" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113425" "00112967" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113426" "00112968" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113427" "00112969" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113428" "00112970" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113429" "00112971" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113430" "00112972" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113431" "00112973" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113432" "00112974" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113433" "00112975" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113434" "00112976" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113435" "00112977" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113436" "00112978" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113437" "00112979" "1" "02161" "02161" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113438" "00112980" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113439" "00112981" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113440" "00112982" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113441" "00112983" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113442" "00112984" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113443" "00112985" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113444" "00112986" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113445" "00112987" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113446" "00112988" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113447" "00112989" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113448" "00112990" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113449" "00112991" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113450" "00112992" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113451" "00112993" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113452" "00112994" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113453" "00112995" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113454" "00112996" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113455" "00112997" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113456" "00112998" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113457" "00112999" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113458" "00113000" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113459" "00113001" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113460" "00113002" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113461" "00113003" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113462" "00113004" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113463" "00113005" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113464" "00113006" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113465" "00113007" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113466" "00113008" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113467" "00113009" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113468" "00113010" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113469" "00113011" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113470" "00113012" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113471" "00113013" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113472" "00113014" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113473" "00113015" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113474" "00113016" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113475" "00113017" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113476" "00113018" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113477" "00113019" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113478" "00113020" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113479" "00113021" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113480" "00113022" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113481" "00113023" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113482" "00113024" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113483" "00113025" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113484" "00113026" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113485" "00113027" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113486" "00113028" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113487" "00113029" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113488" "00113030" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113489" "00113031" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113490" "00113032" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113491" "00113033" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113492" "00113034" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113493" "00113035" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113494" "00113036" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113495" "00113037" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113496" "00113038" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113497" "00113039" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113498" "00113040" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113499" "00113041" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113500" "00113042" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113501" "00113043" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113502" "00113044" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113503" "00113045" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113504" "00113046" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113505" "00113047" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113506" "00113048" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113507" "00113049" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113508" "00113050" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113509" "00113051" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113510" "00113052" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113511" "00113053" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113512" "00113054" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113513" "00113055" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113514" "00113056" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113515" "00113057" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113516" "00113058" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113517" "00113059" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113518" "00113060" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113519" "00113061" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113520" "00113062" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113521" "00113063" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113522" "00113064" "1" "02161" "02161" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113523" "00113065" "1" "02161" "02161" "2010-10-23 12:45:36" "" "" "SEQ" "DNA" "" "" "0000113524" "00113066" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113525" "00113067" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113526" "00113068" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113527" "00113069" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113528" "00113070" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113529" "00113071" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113530" "00113072" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113531" "00113073" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113532" "00113074" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113533" "00113075" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113534" "00113076" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113535" "00113077" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113536" "00113078" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113537" "00113079" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113538" "00113080" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113539" "00113081" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113540" "00113082" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113541" "00113083" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113542" "00113084" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113543" "00113085" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:55:03" "SEQ" "DNA" "" "" "0000113544" "00113086" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113545" "00113087" "1" "02161" "02161" "2007-08-07 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113546" "00113088" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113547" "00113089" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113548" "00113090" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113549" "00113091" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113550" "00113092" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113551" "00113093" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113552" "00113094" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113553" "00113095" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113554" "00113096" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113555" "00113097" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113556" "00113098" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113557" "00113099" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113558" "00113100" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113559" "00113101" "1" "02161" "02161" "2007-05-21 12:00:00" "00006" "2011-01-24 22:52:53" "SEQ" "DNA" "" "" "0000113560" "00113102" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113561" "00113103" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113562" "00113104" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113563" "00113105" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113564" "00113106" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113565" "00113107" "1" "02161" "02161" "2007-08-07 12:00:00" "" "" "SEQ" "DNA" "" "" "0000113566" "00113108" "1" "02161" "02161" "2007-05-21 12:00:00" "" "" "SEQ" "DNA" "" "" "0000175696" "00174805" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000209601" "00208553" "1" "01164" "01164" "2018-12-10 11:04:40" "" "" "SEQ-NG" "DNA" "" "" "0000209663" "00208614" "1" "01164" "01164" "2018-12-12 12:06:07" "" "" "SEQ-NG" "DNA" "" "" "0000249253" "00248148" "1" "01164" "01164" "2019-07-19 11:43:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000267470" "00266347" "1" "03451" "03451" "2019-10-23 20:13:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000276734" "00275576" "1" "02153" "02153" "2020-01-09 16:05:22" "" "" "SEQ" "DNA" "" "" "0000276751" "00275593" "1" "02153" "02153" "2020-01-10 10:08:28" "" "" "SEQ" "DNA" "" "" "0000276752" "00275594" "1" "02153" "02153" "2020-01-10 10:20:12" "" "" "SEQ" "DNA" "" "" "0000276753" "00275595" "1" "02153" "02153" "2020-01-10 10:27:01" "" "" "SEQ" "DNA" "" "" "0000276754" "00275596" "1" "02153" "02153" "2020-01-10 10:30:59" "" "" "SEQ" "DNA" "" "" "0000276755" "00275597" "1" "02153" "02153" "2020-01-10 10:38:58" "" "" "SEQ" "DNA" "" "" "0000276756" "00275598" "1" "02153" "02153" "2020-01-10 10:42:12" "" "" "SEQ" "DNA" "" "" "0000276757" "00275599" "1" "02153" "02153" "2020-01-10 14:01:38" "" "" "SEQ" "DNA" "" "" "0000276758" "00275600" "1" "02153" "02153" "2020-01-10 14:19:37" "00006" "2020-02-10 19:23:06" "SEQ" "DNA" "" "" "0000276759" "00275601" "1" "02153" "02153" "2020-01-10 14:24:07" "" "" "SEQ" "DNA" "" "" "0000276760" "00275602" "1" "02153" "02153" "2020-01-10 14:35:26" "" "" "SEQ" "DNA" "" "" "0000287623" "00286459" "1" "00006" "00006" "2020-02-10 19:28:17" "" "" "SEQ" "DNA" "" "" "0000290524" "00289354" "1" "01164" "01164" "2020-03-05 10:32:03" "" "" "SEQ-NG-S" "DNA" "" "" "0000292981" "00291813" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292982" "00291814" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292983" "00291815" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292984" "00291816" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296452" "00295284" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296708" "00295538" "1" "01164" "01164" "2020-03-18 10:47:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000296709" "00295539" "1" "01164" "01164" "2020-03-18 10:47:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000296739" "00295569" "1" "01164" "01164" "2020-03-18 10:48:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000296915" "00295742" "1" "01164" "01164" "2020-03-26 12:29:50" "" "" "SEQ-NG-S" "DNA" "" "" "0000297092" "00295920" "1" "01164" "01164" "2020-03-30 10:44:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000297163" "00295992" "1" "01164" "01164" "2020-04-01 11:00:47" "" "" "SEQ-NG-S" "DNA" "" "" "0000297661" "00296551" "1" "01164" "01164" "2020-04-08 10:00:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000301756" "00300635" "1" "01164" "01164" "2020-05-04 10:22:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000305723" "00304594" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307909" "00306773" "1" "01164" "01164" "2020-07-20 10:31:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308263" "00307121" "1" "01164" "01164" "2020-08-03 09:32:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308346" "00307204" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000315615" "00314442" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315616" "00314443" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315617" "00314444" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315618" "00314445" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315619" "00314446" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317207" "00316025" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317208" "00316026" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317209" "00316027" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317210" "00316028" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317211" "00316029" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317212" "00316030" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317213" "00316031" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317214" "00316032" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317215" "00316033" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317216" "00316034" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317217" "00316035" "1" "00006" "00006" "2020-11-01 16:34:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000330310" "00329093" "1" "01164" "01164" "2021-02-03 16:25:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000330376" "00329163" "1" "03996" "03996" "2021-02-06 17:33:49" "" "" "SEQ-NG" "DNA" "" "" "0000375978" "00374784" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376034" "00374840" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378359" "00377155" "1" "01164" "01164" "2021-07-14 16:46:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000389512" "00388271" "1" "01164" "01164" "2021-11-03 14:24:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000400323" "00399078" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000412855" "00411583" "1" "02153" "02153" "2022-06-16 16:46:41" "" "" "SEQ-NG" "DNA" "" "" "0000413221" "00411949" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "56-gene panel" "0000413222" "00411950" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "56-gene panel" "0000413223" "00411951" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "56-gene panel" "0000413224" "00411952" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "56-gene panel" "0000413225" "00411953" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413226" "00411954" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413227" "00411955" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413228" "00411956" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413229" "00411957" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413230" "00411958" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413231" "00411959" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413232" "00411960" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413233" "00411961" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413234" "00411962" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413235" "00411963" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413236" "00411964" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000413237" "00411965" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000414362" "00413092" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000414378" "00413108" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420798" "00419494" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000424518" "00423208" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424519" "00423209" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424520" "00423210" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424521" "00423211" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424522" "00423212" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424523" "00423213" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424524" "00423214" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424525" "00423215" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424526" "00423216" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424527" "00423217" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424528" "00423218" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000424529" "00423219" "1" "00006" "00006" "2022-11-11 15:22:50" "" "" "SEQ" "DNA" "" "" "0000434936" "00433481" "1" "04482" "04482" "2023-03-10 03:52:10" "" "" "SEQ-NG" "DNA" "" "" "0000436620" "00435149" "1" "02153" "02153" "2023-05-22 10:43:11" "" "" "SEQ" "DNA" "" "" "0000444173" "00442689" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444174" "00442690" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444175" "00442691" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444198" "00442714" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444245" "00442761" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444256" "00442772" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444282" "00442798" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000457401" "00455785" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000469634" "00467968" "1" "00006" "00006" "2025-11-04 16:13:53" "" "" "SEQ;SEQ-NG" "DNA" "" "89-gene panel" "0000469635" "00467969" "1" "00006" "00006" "2025-11-04 16:13:53" "" "" "SEQ;SEQ-NG" "DNA" "" "89-gene panel" "0000469636" "00467970" "1" "00006" "00006" "2025-11-04 16:13:53" "" "" "SEQ;SEQ-NG" "DNA" "" "89-gene panel" "0000471002" "00469334" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471003" "00469335" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 415 "{{screeningid}}" "{{geneid}}" "0000036983" "SCN4A" "0000036984" "SCN4A" "0000036985" "SCN4A" "0000036986" "SCN4A" "0000036987" "SCN4A" "0000036988" "SCN4A" "0000036989" "SCN4A" "0000036990" "SCN4A" "0000036991" "SCN4A" "0000036992" "SCN4A" "0000036993" "SCN4A" "0000036994" "SCN4A" "0000036995" "SCN4A" "0000036996" "SCN4A" "0000036997" "SCN4A" "0000036998" "SCN4A" "0000036999" "SCN4A" "0000037000" "SCN4A" "0000037001" "SCN4A" "0000037002" "SCN4A" "0000037003" "SCN4A" "0000037004" "SCN4A" 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"SCN4A" "0000113275" "SCN4A" "0000113276" "SCN4A" "0000113277" "SCN4A" "0000113278" "SCN4A" "0000113279" "SCN4A" "0000113280" "SCN4A" "0000113281" "SCN4A" "0000113282" "SCN4A" "0000113283" "SCN4A" "0000113284" "SCN4A" "0000113285" "SCN4A" "0000113286" "SCN4A" "0000113287" "SCN4A" "0000113288" "SCN4A" "0000113289" "SCN4A" "0000113290" "SCN4A" "0000113291" "SCN4A" "0000113292" "SCN4A" "0000113293" "SCN4A" "0000113294" "SCN4A" "0000113295" "SCN4A" "0000113296" "SCN4A" "0000113297" "SCN4A" "0000113298" "SCN4A" "0000113299" "SCN4A" "0000113300" "SCN4A" "0000113301" "SCN4A" "0000113302" "SCN4A" "0000113303" "SCN4A" "0000113304" "SCN4A" "0000113305" "SCN4A" "0000113306" "SCN4A" "0000113307" "SCN4A" "0000113308" "SCN4A" "0000113309" "SCN4A" "0000113310" "SCN4A" "0000113311" "SCN4A" "0000113312" "SCN4A" "0000113313" "SCN4A" "0000113314" "SCN4A" "0000113315" "SCN4A" "0000113316" "SCN4A" "0000113317" "SCN4A" "0000113318" "SCN4A" "0000113319" "SCN4A" "0000113320" "SCN4A" "0000113321" "SCN4A" "0000113322" "SCN4A" "0000113323" "SCN4A" "0000113324" "SCN4A" "0000113325" "SCN4A" "0000113326" "SCN4A" "0000113327" "SCN4A" "0000113328" "SCN4A" "0000113329" "SCN4A" "0000113330" "SCN4A" "0000113331" "SCN4A" "0000113332" "SCN4A" "0000113333" "SCN4A" "0000113334" "SCN4A" "0000113335" "SCN4A" "0000113336" "SCN4A" "0000113337" "SCN4A" "0000113338" "SCN4A" "0000113339" "SCN4A" "0000113340" "SCN4A" "0000113341" "SCN4A" "0000113342" "SCN4A" "0000113343" "SCN4A" "0000113344" "SCN4A" "0000113345" "SCN4A" "0000113346" "SCN4A" "0000113347" "SCN4A" "0000113348" "SCN4A" "0000113349" "SCN4A" "0000113350" "SCN4A" "0000113351" "SCN4A" "0000113352" "SCN4A" "0000113353" "SCN4A" "0000113354" "SCN4A" "0000113355" "SCN4A" "0000113356" "SCN4A" "0000113357" "SCN4A" "0000113358" "SCN4A" "0000113359" "SCN4A" "0000113360" "SCN4A" "0000113361" "SCN4A" "0000113362" "SCN4A" "0000113363" "SCN4A" "0000113364" "SCN4A" "0000113365" "SCN4A" "0000113366" "SCN4A" "0000113367" "SCN4A" "0000113368" "SCN4A" "0000113369" "SCN4A" "0000113370" "SCN4A" "0000113371" "SCN4A" "0000113372" "SCN4A" "0000113373" "SCN4A" "0000113374" "SCN4A" "0000113375" "SCN4A" "0000113376" "SCN4A" "0000113377" "SCN4A" "0000113378" "SCN4A" "0000113379" "SCN4A" "0000113380" "SCN4A" "0000113381" "SCN4A" "0000113382" "SCN4A" "0000113383" "SCN4A" "0000113384" "SCN4A" "0000113385" "SCN4A" "0000113386" "SCN4A" "0000113387" "SCN4A" "0000113388" "SCN4A" "0000113389" "SCN4A" "0000113390" "SCN4A" "0000113391" "SCN4A" "0000113392" "SCN4A" "0000113393" "SCN4A" "0000113394" "SCN4A" "0000113395" "SCN4A" "0000113396" "SCN4A" "0000113397" "SCN4A" "0000113398" "SCN4A" "0000113399" "SCN4A" "0000113400" "SCN4A" "0000113401" "SCN4A" "0000113402" "SCN4A" "0000113403" "SCN4A" "0000113404" "SCN4A" "0000113405" "SCN4A" "0000113406" "SCN4A" "0000113407" "SCN4A" "0000113408" "SCN4A" "0000113409" "SCN4A" "0000113410" "SCN4A" "0000113411" "SCN4A" "0000113412" "SCN4A" "0000113413" "SCN4A" "0000113414" "SCN4A" "0000113415" "SCN4A" "0000113416" "SCN4A" "0000113417" "SCN4A" "0000113418" "SCN4A" "0000113419" "SCN4A" "0000113420" "SCN4A" "0000113421" "SCN4A" "0000113422" "SCN4A" "0000113423" "SCN4A" "0000113424" "SCN4A" "0000113425" "SCN4A" "0000113426" "SCN4A" "0000113427" "SCN4A" "0000113428" "SCN4A" "0000113429" "SCN4A" "0000113430" "SCN4A" "0000113431" "SCN4A" "0000113432" "SCN4A" "0000113433" "SCN4A" "0000113434" "SCN4A" "0000113435" "SCN4A" "0000113436" "SCN4A" "0000113437" "SCN4A" "0000113438" "SCN4A" "0000113439" "SCN4A" "0000113440" "SCN4A" "0000113441" "SCN4A" "0000113442" "SCN4A" "0000113443" "SCN4A" "0000113444" "SCN4A" "0000113445" "SCN4A" "0000113446" "SCN4A" "0000113447" "SCN4A" "0000113448" "SCN4A" "0000113449" "SCN4A" "0000113450" "SCN4A" "0000113451" "SCN4A" "0000113452" "SCN4A" "0000113453" "SCN4A" "0000113454" "SCN4A" "0000113455" "SCN4A" "0000113456" "SCN4A" "0000113457" "SCN4A" "0000113458" "SCN4A" "0000113459" "SCN4A" "0000113460" "SCN4A" "0000113461" "SCN4A" "0000113462" "SCN4A" "0000113463" "SCN4A" "0000113464" "SCN4A" "0000113465" "SCN4A" "0000113466" "SCN4A" "0000113467" "SCN4A" "0000113468" "SCN4A" "0000113469" "SCN4A" "0000113470" "SCN4A" "0000113471" "SCN4A" "0000113472" "SCN4A" "0000113473" "SCN4A" "0000113474" "SCN4A" "0000113475" "SCN4A" "0000113476" "SCN4A" "0000113477" "SCN4A" "0000113478" "SCN4A" "0000113479" "SCN4A" "0000113480" "SCN4A" "0000113481" "SCN4A" "0000113482" "SCN4A" "0000113483" "SCN4A" "0000113484" "SCN4A" "0000113485" "SCN4A" "0000113486" "SCN4A" "0000113487" "SCN4A" "0000113488" "SCN4A" "0000113489" "SCN4A" "0000113490" "SCN4A" "0000113491" "SCN4A" "0000113492" "SCN4A" "0000113493" "SCN4A" "0000113494" "SCN4A" "0000113495" "SCN4A" "0000113496" "SCN4A" "0000113497" "SCN4A" "0000113498" "SCN4A" "0000113499" "SCN4A" "0000113500" "SCN4A" "0000113501" "SCN4A" "0000113502" "SCN4A" "0000113503" "SCN4A" "0000113504" "SCN4A" "0000113505" "SCN4A" "0000113506" "SCN4A" "0000113507" "SCN4A" "0000113508" "SCN4A" "0000113509" "SCN4A" "0000113510" "SCN4A" "0000113511" "SCN4A" "0000113512" "SCN4A" "0000113513" "SCN4A" "0000113514" "SCN4A" "0000113515" "SCN4A" "0000113516" "SCN4A" "0000113517" "SCN4A" "0000113518" "SCN4A" "0000113519" "SCN4A" "0000113520" "SCN4A" "0000113521" "SCN4A" "0000113522" "SCN4A" "0000113523" "SCN4A" "0000113524" "SCN4A" "0000113525" "SCN4A" "0000113526" "SCN4A" "0000113527" "SCN4A" "0000113528" "SCN4A" "0000113529" "SCN4A" "0000113530" "SCN4A" "0000113531" "SCN4A" "0000113532" "SCN4A" "0000113533" "SCN4A" "0000113534" "SCN4A" "0000113535" "SCN4A" "0000113536" "SCN4A" "0000113537" "SCN4A" "0000113538" "SCN4A" "0000113539" "SCN4A" "0000113540" "SCN4A" "0000113541" "SCN4A" "0000113542" "SCN4A" "0000113543" "SCN4A" "0000113544" "SCN4A" "0000113545" "SCN4A" "0000113546" "SCN4A" "0000113547" "SCN4A" "0000113548" "SCN4A" "0000113549" "SCN4A" "0000113550" "SCN4A" "0000113551" "SCN4A" "0000113552" "SCN4A" "0000113553" "SCN4A" "0000113554" "SCN4A" "0000113555" "SCN4A" "0000113556" "SCN4A" "0000113557" "SCN4A" "0000113558" "SCN4A" "0000113559" "SCN4A" "0000113560" "SCN4A" "0000113561" "SCN4A" "0000113562" "SCN4A" "0000113563" "SCN4A" "0000113564" "SCN4A" "0000113565" "SCN4A" "0000113566" "SCN4A" "0000267470" "SCN4A" "0000276734" "SCN4A" "0000276752" "SCN4A" "0000276753" "SCN4A" "0000276754" "SCN4A" "0000276755" "SCN4A" "0000276756" "SCN4A" "0000276757" "SCN4A" "0000276758" "CLCN1" "0000276758" "SCN4A" "0000276759" "SCN4A" "0000276760" "SCN4A" "0000287623" "CLCN1" "0000287623" "SCN4A" "0000308346" "SCN4A" "0000315615" "SCN4A" "0000315616" "SCN4A" "0000315617" "SCN4A" "0000315618" "SCN4A" "0000315619" "SCN4A" "0000317207" "SCN4A" "0000317208" "SCN4A" "0000317209" "SCN4A" "0000317210" "SCN4A" "0000317211" "SCN4A" "0000317212" "SCN4A" "0000317213" "SCN4A" "0000317214" "SCN4A" "0000317215" "SCN4A" "0000317216" "SCN4A" "0000317217" "SCN4A" "0000330310" "KCNA5" "0000330310" "SCN4A" "0000330376" "SCN4A" "0000375978" "MTM1" "0000376034" "SCN4A" "0000378359" "SCN4A" "0000389512" "SCN4A" "0000412855" "SCN4A" "0000424518" "SCN4A" "0000424519" "SCN4A" "0000424520" "SCN4A" "0000424521" "SCN4A" "0000424522" "SCN4A" "0000424523" "SCN4A" "0000424524" "SCN4A" "0000424525" "SCN4A" "0000424526" "SCN4A" "0000424527" "SCN4A" "0000424528" "SCN4A" "0000424529" "SCN4A" "0000434936" "SCN4A" "0000436620" "SCN4A" ## 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 = 1125 "{{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}}" "0000053055" "0" "50" "17" "62019335" "62019335" "subst" "0" "00795" "SCN4A_000067" "g.62019335A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63941975A>G" "" "VUS" "" "0000053056" "0" "50" "17" "62019263" "62019263" "subst" "4.06719E-6" "00795" "SCN4A_000112" "g.62019263C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63941903C>T" "" "VUS" "" "0000053057" "0" "50" "17" "62019269" "62019269" "subst" "0" "00795" "SCN4A_000111" "g.62019269A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63941909A>T" "" "VUS" "" "0000053058" "0" "50" "17" "62019300" "62019300" "subst" "0" "00795" "SCN4A_000071" "g.62019300G>A" "" "" "" "" "" "Unknown" "" "rs121908544" "0" "" "" "g.63941940G>A" "" "VUS" "" "0000053059" "0" "50" "17" "62034557" "62034557" "subst" "0.01057" "00795" "SCN4A_000036" "g.62034557C>T" "" "" "" "" "" "Unknown" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "VUS" "" "0000053060" "0" "50" "17" "62022045" "62022047" "del" "0" "00795" "SCN4A_000110" "g.62022045_62022047del" "" "" "" "3901_3903delCAG" "" "Unknown" "" "" "0" "" "" "g.63944685_63944687del" "" "VUS" "" "0000064108" "1" "50" "17" "62029051" "62029051" "subst" "6.79372E-5" "01164" "SCN4A_000143" "g.62029051G>A" "" "" "" "" "ESE-finder: loss of SRp40-site; Mut.Taster: Poly (0,99)" "Germline" "" "" "0" "" "" "g.63951691G>A" "" "VUS" "" "0000064109" "1" "50" "17" "62018002" "62018002" "subst" "0" "01164" "SCN4A_000152" "g.62018002C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63940642C>A" "" "VUS" "" "0000064110" "1" "50" "17" "62022987" "62022987" "subst" "2.84738E-5" "01164" "SCN4A_000138" "g.62022987G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63945627G>A" "" "VUS" "" "0000064111" "1" "50" "17" "62022956" "62022956" "subst" "0" "01164" "SCN4A_000135" "g.62022956T>C" "" "" "" "" "PolyPhen-2: PSIC: 0.057, in combination with c.2717G>C" "Germline" "" "" "0" "" "" "g.63945596T>C" "" "VUS" "" "0000064112" "1" "50" "17" "62022965" "62022965" "subst" "0" "01164" "SCN4A_000137" "g.62022965A>G" "" "" "" "" "PolyPhen-2: probably damaging (PSIC:0.998)" "Germline" "" "" "0" "" "" "g.63945605A>G" "" "VUS" "" "0000064113" "1" "50" "17" "62049749" "62049749" "subst" "0.00240883" "01164" "SCN4A_000001" "g.62049749C>T" "" "" "" "" "PolyPhen-2: benign (PSIC:0.001)" "Germline" "" "rs41280110" "0" "" "" "g.63972389C>T" "" "VUS" "" "0000064114" "1" "50" "17" "62024594" "62024594" "subst" "0" "01164" "SCN4A_000139" "g.62024594G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63947234G>T" "" "VUS" "" "0000064115" "1" "50" "17" "62029041" "62029041" "subst" "1.77456E-5" "01164" "SCN4A_000142" "g.62029041C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63951681C>T" "" "VUS" "" "0000064116" "1" "50" "17" "62034790" "62034790" "subst" "0" "01164" "SCN4A_000124" "g.62034790A>G" "" "" "" "" "PolyPhen-2: Probably Damaging" "Germline" "" "" "0" "" "" "g.63957430A>G" "" "VUS" "" "0000064117" "1" "90" "17" "62048561" "62048561" "subst" "0" "01164" "SCN4A_000115" "g.62048561G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63971201G>A" "" "pathogenic" "" "0000064118" "1" "50" "17" "62034778" "62034778" "subst" "0" "01164" "SCN4A_000147" "g.62034778A>G" "" "" "" "" "PolyPhen-2: probably damaging (PSIC: 1,0)" "Germline" "" "" "0" "" "" "g.63957418A>G" "" "VUS" "" "0000064119" "1" "90" "17" "62021185" "62021185" "subst" "0" "01164" "SCN4A_000150" "g.62021185G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000064120" "1" "10" "17" "62049687" "62049687" "subst" "0.00514415" "01164" "SCN4A_000053" "g.62049687G>A" "" "" "" "" "" "Germline" "" "rs141799189" "0" "" "" "g.63972327G>A" "" "benign" "" "0000064121" "1" "90" "17" "62022962" "62022962" "subst" "0" "01164" "SCN4A_000136" "g.62022962T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63945602T>C" "" "pathogenic" "" "0000064122" "1" "50" "17" "62048648" "62048648" "subst" "0" "01164" "SCN4A_000116" "g.62048648G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63971288G>C" "" "VUS" "" "0000064123" "1" "90" "17" "62029226" "62029226" "subst" "0" "01164" "SCN4A_000144" "g.62029226G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63951866G>A" "" "pathogenic" "" "0000064124" "1" "50" "17" "62017851" "62017852" "del" "0" "01164" "SCN4A_000151" "g.62017851_62017852del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63940491_63940492del" "" "VUS" "" "0000064125" "1" "50" "17" "62049681" "62049681" "subst" "0.000168727" "01164" "SCN4A_000119" "g.62049681C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63972321C>G" "" "VUS" "" "0000064126" "1" "50" "17" "62049535" "62049535" "subst" "0" "01164" "SCN4A_000117" "g.62049535A>G" "" "" "" "" "mother and son: segregation analysis" "Germline" "" "" "0" "" "" "g.63972175A>G" "" "VUS" "" "0000064127" "1" "50" "17" "62038636" "62038636" "subst" "0" "01164" "SCN4A_000128" "g.62038636T>C" "" "" "" "" "PolyPhen-2. benign (PSIC:0.443)" "Germline" "" "" "0" "" "" "g.63961276T>C" "" "VUS" "" "0000064128" "1" "50" "17" "62018540" "62018540" "subst" "0" "01164" "SCN4A_000148" "g.62018540A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63941180A>G" "" "VUS" "" "0000064129" "1" "50" "17" "62018002" "62018002" "subst" "0" "01164" "SCN4A_000152" "g.62018002C>A" "" "" "" "" "miRNA-Changes; ESE-Splicesite-changes: loss of SC35-site and SRp40-Site" "Germline" "" "rs140026321" "0" "" "" "g.63940642C>A" "" "VUS" "" "0000064130" "1" "10" "17" "62017568" "62017568" "subst" "0" "01164" "SCN4A_000153" "g.62017568C>T" "" "" "" "" "only LCP" "Germline" "" "rs2532112" "0" "" "" "g.63940208C>T" "" "benign" "" "0000064131" "1" "90" "17" "62049557" "62049557" "subst" "0" "01164" "SCN4A_000118" "g.62049557T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63972197T>C" "" "pathogenic" "" "0000064132" "1" "90" "17" "62041947" "62041947" "subst" "4.06805E-6" "01164" "SCN4A_000131" "g.62041947C>T" "" "" "" "" "" "Germline" "" "rs121908552" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000064133" "1" "10" "17" "62022710" "62022710" "subst" "0.0228316" "01164" "SCN4A_000134" "g.62022710T>C" "" "" "" "" "" "Germline" "" "rs72851170" "0" "" "" "g.63945350T>C" "" "benign" "" "0000064134" "1" "50" "17" "62025923" "62025923" "subst" "0" "01164" "SCN4A_000140" "g.62025923T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63948563T>G" "" "VUS" "" "0000064135" "1" "10" "17" "62041208" "62041208" "subst" "0.0210944" "01164" "SCN4A_000130" "g.62041208G>A" "" "" "" "" "" "Germline" "" "rs75168694" "0" "" "" "g.63963848G>A" "" "benign" "" "0000064136" "1" "90" "17" "62034787" "62034787" "subst" "0" "01164" "SCN4A_000123" "g.62034787G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000064137" "1" "10" "17" "62045555" "62045555" "subst" "0.0287581" "01164" "SCN4A_000114" "g.62045555G>A" "" "" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000064138" "1" "10" "17" "62041012" "62041012" "subst" "0.00307578" "01164" "SCN4A_000129" "g.62041012C>T" "" "" "" "" "" "Germline" "" "rs73326363" "0" "" "" "g.63963652C>T" "" "benign" "" "0000064139" "1" "50" "17" "62045451" "62045451" "subst" "0.00864289" "01164" "SCN4A_000113" "g.62045451G>A" "" "" "" "" "" "Germline" "" "rs80338952" "0" "" "" "g.63968091G>A" "" "VUS" "" "0000064140" "1" "50" "17" "62038602" "62038602" "subst" "0.00278805" "01164" "SCN4A_000127" "g.62038602T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63961242T>C" "" "VUS" "" "0000064141" "1" "50" "17" "62019385" "62019385" "subst" "0.000496375" "01164" "SCN4A_000149" "g.62019385C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63942025C>A" "" "VUS" "" "0000064142" "1" "90" "17" "62034820" "62034820" "subst" "0" "01164" "SCN4A_000125" "g.62034820A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957460A>G" "" "pathogenic" "" "0000064143" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "01164" "SCN4A_000133" "g.62021206C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000064144" "1" "10" "17" "62049738" "62049738" "subst" "0.0472854" "01164" "SCN4A_000002" "g.62049738G>A" "" "" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000064145" "1" "10" "17" "62043537" "62043537" "subst" "0.0220274" "01164" "SCN4A_000132" "g.62043537A>G" "" "" "" "" "" "Germline" "" "rs16947296" "0" "" "" "g.63966177A>G" "" "benign" "" "0000064146" "1" "10" "17" "62034609" "62034609" "subst" "0.0171247" "01164" "SCN4A_000146" "g.62034609G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000064147" "1" "10" "17" "62034557" "62034557" "subst" "0.01057" "01164" "SCN4A_000036" "g.62034557C>T" "" "" "" "" "" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "benign" "" "0000064148" "1" "10" "17" "62034479" "62034479" "subst" "0.0339736" "01164" "SCN4A_000145" "g.62034479C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957119C>T" "" "benign" "" "0000064149" "1" "10" "17" "62029006" "62029006" "subst" "0.0348807" "01164" "SCN4A_000141" "g.62029006A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000064150" "1" "90" "17" "62036630" "62036630" "subst" "0" "01164" "SCN4A_000126" "g.62036630G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000076457" "0" "50" "17" "62019335" "62019335" "subst" "0" "00795" "SCN4A_000067" "g.62019335A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63941975A>G" "" "VUS" "" "0000150689" "11" "90" "17" "62025425" "62025425" "subst" "0" "00006" "SCN4A_000154" "g.62025425T>G" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948065T>G" "" "pathogenic" "" "0000150690" "21" "90" "17" "62025363" "62025363" "subst" "1.21903E-5" "00006" "SCN4A_000155" "g.62025363C>T" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948003C>T" "" "pathogenic" "" "0000150691" "0" "90" "17" "62025363" "62025363" "subst" "1.21903E-5" "00006" "SCN4A_000155" "g.62025363C>T" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "reduced protein function (conductance and current density)" "In vitro (cloned)" "-" "" "0" "" "" "g.63948003C>T" "" "NA" "" "0000182105" "0" "11" "17" "62018109" "62018109" "subst" "0.0509597" "02161" "SCN4A_000091" "g.62018109T>C" "" "Leiden, unpublished" "" "5511+22A>G" "" "Germline" "" "" "0" "" "" "g.63940749T>C" "" "benign" "" "0000182106" "0" "11" "17" "62018109" "62018109" "subst" "0.0509597" "02161" "SCN4A_000091" "g.62018109T>C" "" "Leiden, unpublished" "" "5511+22A>G" "" "Germline" "" "" "0" "" "" "g.63940749T>C" "" "benign" "" "0000182107" "0" "11" "17" "62018109" "62018109" "subst" "0.0509597" "02161" "SCN4A_000091" "g.62018109T>C" "" "Miller [2004]" "" "5511+22A>G" "" "Germline" "" "" "0" "" "" "g.63940749T>C" "" "benign" "" "0000182108" "11" "11" "17" "62018164" "62018164" "subst" "0.0424699" "02161" "SCN4A_000090" "g.62018164A>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63940804A>C" "" "benign" "" "0000182109" "21" "11" "17" "62018164" "62018164" "subst" "0.0424699" "02161" "SCN4A_000090" "g.62018164A>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63940804A>C" "" "benign" "" "0000182110" "0" "11" "17" "62018164" "62018164" "subst" "0.0424699" "02161" "SCN4A_000090" "g.62018164A>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63940804A>C" "" "benign" "" "0000182111" "0" "11" "17" "62018164" "62018164" "subst" "0.0424699" "02161" "SCN4A_000090" "g.62018164A>C" "" "Bendahhou [2001]" "" "" "" "Germline" "" "" "0" "" "" "g.63940804A>C" "" "benign" "" "0000182112" "0" "11" "17" "62018239" "62018239" "subst" "0.0310295" "02161" "SCN4A_000089" "g.62018239G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63940879G>A" "" "benign" "" "0000182113" "0" "11" "17" "62018239" "62018239" "subst" "0.0310295" "02161" "SCN4A_000089" "g.62018239G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63940879G>A" "" "benign" "" "0000182114" "0" "11" "17" "62018239" "62018239" "subst" "0.0310295" "02161" "SCN4A_000089" "g.62018239G>A" "" "Vicart [2004]" "" "" "" "Germline" "" "" "0" "" "" "g.63940879G>A" "" "benign" "" "0000182115" "0" "99" "17" "62018527" "62018527" "subst" "0" "02161" "SCN4A_000088" "g.62018527T>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63941167T>A" "" "pathogenic" "" "0000182116" "0" "50" "17" "62018609" "62018609" "subst" "1.62439E-5" "02161" "SCN4A_000087" "g.62018609T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941249T>C" "" "VUS" "" "0000182117" "1" "10" "17" "62018773" "62018773" "subst" "0.367296" "00485" "SCN4A_000096" "g.62018773T>C" "" "" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182118" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182119" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182120" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182121" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182122" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182123" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182124" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182125" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182126" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182127" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182128" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182129" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182130" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182131" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182132" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182133" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182134" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182135" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182136" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182137" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182138" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182139" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182140" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182141" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182142" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182143" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182144" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182145" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182146" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182147" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182148" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182149" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182150" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182151" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182152" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182153" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182154" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182155" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182156" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182157" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182158" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182159" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182160" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182161" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182162" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182163" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182164" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182165" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182166" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182167" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182168" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182169" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182170" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182171" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182172" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182173" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182174" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182175" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182176" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182177" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182178" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182179" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182180" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182181" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182182" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182183" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182184" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182185" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182186" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182187" "11" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182188" "21" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182189" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182190" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182191" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182192" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182193" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182194" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182195" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182196" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182197" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182198" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182199" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Bendahhou [2001]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182200" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Bulman [1997]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182201" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Kuzmenkin [2003]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182202" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "McClatchey [1992]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182203" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Miller [2004]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182204" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Rojas [1991]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182205" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Rudel [1993]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182206" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Sugiura [2000]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182207" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Vicart [2004]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182208" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Wang [2006]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182209" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Leiden, unpublished" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182210" "0" "11" "17" "62018773" "62018773" "subst" "0.367296" "02161" "SCN4A_000086" "g.62018773T>C" "" "Wu [2001]" "" "Thr1623Thr" "" "Germline" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000182211" "0" "99" "17" "62018868" "62018868" "subst" "0" "02161" "SCN4A_000085" "g.62018868T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941508T>C" "" "pathogenic" "" "0000182212" "0" "99" "17" "62018868" "62018868" "subst" "0" "02161" "SCN4A_000085" "g.62018868T>C" "" "Trip [2007]" "" "" "" "Germline" "" "" "0" "" "" "g.63941508T>C" "" "pathogenic" "" "0000182213" "0" "99" "17" "62018877" "62018877" "subst" "0" "02161" "SCN4A_000084" "g.62018877C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941517C>T" "" "pathogenic" "" "0000182214" "0" "99" "17" "62018877" "62018877" "subst" "0" "02161" "SCN4A_000084" "g.62018877C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941517C>T" "" "pathogenic" "" "0000182215" "0" "99" "17" "62018877" "62018877" "subst" "0" "02161" "SCN4A_000084" "g.62018877C>T" "" "Rosenfeld [1997]" "" "" "" "Germline" "" "" "0" "" "" "g.63941517C>T" "" "pathogenic" "" "0000182216" "0" "99" "17" "62018877" "62018877" "subst" "0" "02161" "SCN4A_000084" "g.62018877C>T" "" "Kim [2004]" "" "" "" "Germline" "" "" "0" "" "" "g.63941517C>T" "" "pathogenic" "" "0000182217" "0" "50" "17" "62018931" "62018931" "subst" "8.93452E-5" "02161" "SCN4A_000083" "g.62018931G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941571G>A" "" "VUS" "" "0000182218" "1" "10" "17" "62019103" "62019103" "subst" "0.16573" "00485" "SCN4A_000095" "g.62019103G>T" "" "" "" "Ile1513Ile" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182219" "0" "10" "17" "62019103" "62019103" "subst" "0.16573" "00485" "SCN4A_000095" "g.62019103G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182220" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182221" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182222" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182223" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182224" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182225" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182226" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182227" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182228" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182229" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182230" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182231" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182232" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182233" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182234" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182235" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182236" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182237" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182238" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182239" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182240" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182241" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182242" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182243" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182244" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182245" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182246" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182247" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182248" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182249" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182250" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182251" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182252" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182253" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182254" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182255" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182256" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182257" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182258" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182259" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182260" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182261" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182262" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182263" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182264" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182265" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182266" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182267" "11" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182268" "21" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182269" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182270" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182271" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182272" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182273" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182274" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182275" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182276" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182277" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182278" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182279" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Koch [1995]" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182280" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Ptácek [1992]" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182281" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182282" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Guo [2004]" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182283" "0" "11" "17" "62019103" "62019103" "subst" "0.16573" "02161" "SCN4A_000082" "g.62019103G>T" "" "Kim [2002]" "" "" "" "Germline" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000182284" "0" "99" "17" "62019159" "62019159" "subst" "0" "02161" "SCN4A_000081" "g.62019159T>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941799T>A" "" "pathogenic" "" "0000182285" "0" "99" "17" "62019163" "62019163" "subst" "0" "02161" "SCN4A_000080" "g.62019163C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941803C>T" "" "pathogenic" "" "0000182286" "0" "99" "17" "62019174" "62019174" "subst" "0" "02161" "SCN4A_000079" "g.62019174A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941814A>G" "" "pathogenic" "" "0000182287" "0" "99" "17" "62019200" "62019200" "subst" "0" "02161" "SCN4A_000078" "g.62019200G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941840G>T" "" "pathogenic" "" "0000182288" "0" "99" "17" "62019224" "62019224" "subst" "0" "02161" "SCN4A_000077" "g.62019224A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941864A>G" "" "pathogenic" "" "0000182289" "0" "50" "17" "62019254" "62019254" "subst" "8.12929E-6" "02161" "SCN4A_000076" "g.62019254C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941894C>T" "" "VUS" "" "0000182290" "0" "90" "17" "62019270" "62019270" "subst" "4.0707E-6" "00485" "SCN4A_000075" "g.62019270C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63941910C>A" "" "pathogenic" "" "0000182291" "0" "90" "17" "62019270" "62019270" "subst" "4.0707E-6" "02161" "SCN4A_000075" "g.62019270C>A" "" "Bulman 1997" "" "" "" "Germline" "" "" "0" "" "" "g.63941910C>A" "" "pathogenic" "" "0000182292" "0" "90" "17" "62019270" "62019270" "subst" "4.0707E-6" "02161" "SCN4A_000075" "g.62019270C>A" "" "Lehmann-Horn 1993" "" "" "" "Germline" "" "" "0" "" "" "g.63941910C>A" "" "pathogenic" "" "0000182293" "0" "99" "17" "62019270" "62019270" "subst" "4.0707E-6" "02161" "SCN4A_000075" "g.62019270C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941910C>A" "" "pathogenic" "" "0000182294" "0" "99" "17" "62019270" "62019270" "subst" "4.0707E-6" "02161" "SCN4A_000075" "g.62019270C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941910C>A" "" "pathogenic" "" "0000182295" "0" "99" "17" "62019275" "62019275" "subst" "0" "02161" "SCN4A_000074" "g.62019275C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941915C>T" "" "pathogenic" "" "0000182296" "1" "90" "17" "62019299" "62019299" "subst" "0" "00485" "SCN4A_000097" "g.62019299C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182297" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000072" "g.62019299C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182298" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000072" "g.62019299C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182299" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000072" "g.62019299C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182300" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000072" "g.62019299C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182301" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000072" "g.62019299C>T" "" "Ferriby [2006]" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000182302" "0" "99" "17" "62019299" "62019299" "subst" "0" "02161" "SCN4A_000073" "g.62019299C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>G" "" "pathogenic" "" "0000182303" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000069" "g.62019300G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>T" "" "pathogenic" "" "0000182304" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000070" "g.62019300G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>C" "" "pathogenic" "" "0000182305" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182306" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182307" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182308" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182309" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182310" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182311" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182312" "0" "99" "17" "62019300" "62019300" "subst" "0" "02161" "SCN4A_000071" "g.62019300G>A" "" "Jurkat-Rott [2000]" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000182313" "0" "99" "17" "62019317" "62019317" "subst" "0" "02161" "SCN4A_000068" "g.62019317A>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941957A>T" "" "pathogenic" "" "0000182314" "0" "50" "17" "62019335" "62019335" "subst" "0" "02161" "SCN4A_000067" "g.62019335A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941975A>G" "" "VUS" "" "0000182315" "0" "50" "17" "62019335" "62019335" "subst" "0" "02161" "SCN4A_000067" "g.62019335A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941975A>G" "" "VUS" "" "0000182316" "0" "50" "17" "62019335" "62019335" "subst" "0" "02161" "SCN4A_000067" "g.62019335A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941975A>G" "" "VUS" "" "0000182317" "0" "99" "17" "62019344" "62019344" "subst" "0" "02161" "SCN4A_000066" "g.62019344A>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941984A>C" "" "pathogenic" "" "0000182318" "0" "50" "17" "62019358" "62019358" "subst" "0" "02161" "SCN4A_000065" "g.62019358G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63941998G>A" "" "VUS" "" "0000182319" "0" "50" "17" "62020176" "62020176" "subst" "0.00744109" "02161" "SCN4A_000064" "g.62020176C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63942816C>A" "" "VUS" "" "0000182320" "0" "50" "17" "62020176" "62020176" "subst" "0.00744109" "02161" "SCN4A_000064" "g.62020176C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63942816C>A" "" "VUS" "" "0000182321" "0" "50" "17" "62020218" "62020218" "subst" "0" "02161" "SCN4A_000063" "g.62020218A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63942858A>G" "" "VUS" "" "0000182322" "0" "50" "17" "62020252" "62020252" "subst" "0.000174655" "02161" "SCN4A_000062" "g.62020252G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63942892G>A" "" "VUS" "" "0000182323" "0" "50" "17" "62020259" "62020259" "subst" "0.00136457" "00485" "SCN4A_000104" "g.62020259G>A" "" "" "" "Leu1405Leu" "unclassified variant" "Germline" "" "" "0" "" "" "g.63942899G>A" "" "VUS" "" "0000182324" "1" "10" "17" "62020348" "62020348" "subst" "0.52177" "00485" "SCN4A_000094" "g.62020348T>C" "" "" "" "" "" "Germline" "" "rs2058194" "0" "" "" "g.63942988T>C" "" "benign" "" "0000182325" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182326" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182327" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182328" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182329" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182330" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182331" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182332" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182333" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182334" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182335" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182336" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182337" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182338" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182339" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182340" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182341" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182342" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182343" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182344" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182345" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182346" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182347" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182348" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182349" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182350" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182351" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182352" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182353" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182354" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182355" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182356" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182357" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182358" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182359" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182360" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182361" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182362" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182363" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182364" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182365" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182366" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182367" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182368" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182369" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182370" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182371" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182372" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182373" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182374" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182375" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182376" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182377" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182378" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182379" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182380" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182381" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182382" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182383" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182384" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182385" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182386" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182387" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182388" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182389" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182390" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182391" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182392" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182393" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182394" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182395" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182396" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182397" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182398" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182399" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182400" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182401" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182402" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182403" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182404" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182405" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182406" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182407" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182408" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182409" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182410" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182411" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182412" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182413" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182414" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182415" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182416" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182417" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182418" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182419" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182420" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182421" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182422" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182423" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182424" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182425" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182426" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182427" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182428" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182429" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182430" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182431" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182432" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182433" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182434" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182435" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182436" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182437" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182438" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182439" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182440" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182441" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182442" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182443" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182444" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182445" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182446" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182447" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182448" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182449" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182450" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182451" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182452" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182453" "11" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182454" "21" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182455" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182456" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182457" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182458" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182459" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182460" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182461" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Baquero [1995]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182462" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Bendahhou [1999]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182463" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Bulman [1999]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182464" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Guo [2004]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182465" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Heine [1993]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182466" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Hisama. [2005]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182467" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Hsu [2006]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182468" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Kim [2001]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182469" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Lane [2004]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182470" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Péréon [2003]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182471" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Plassart [1996]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182472" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Ptácek [1992]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182473" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182474" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "Lerche [1993]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182475" "0" "11" "17" "62020348" "62020348" "subst" "0" "02161" "SCN4A_000061" "g.62020348C>T" "" "McClatchey [1992]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63942988C>T" "" "benign" "" "0000182476" "0" "99" "17" "62020366" "62020366" "subst" "4.06075E-6" "02161" "SCN4A_000060" "g.62020366T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943006T>C" "" "pathogenic" "" "0000182477" "0" "99" "17" "62020386" "62020386" "subst" "0" "02161" "SCN4A_000059" "g.62020386A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943026A>G" "" "pathogenic" "" "0000182478" "0" "99" "17" "62020436" "62020436" "subst" "0" "02161" "SCN4A_000058" "g.62020436T>C" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63943076T>C" "" "pathogenic" "" "0000182479" "0" "99" "17" "62021184" "62021184" "subst" "0" "02161" "SCN4A_000057" "g.62021184C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943824C>A" "" "pathogenic" "" "0000182480" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182481" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182482" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182483" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182484" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182485" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182486" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182487" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182488" "0" "99" "17" "62021185" "62021185" "subst" "0" "02161" "SCN4A_000055" "g.62021185G>A" "" "McClatchey [1992]" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000182489" "0" "99" "17" "62021186" "62021186" "subst" "0" "02161" "SCN4A_000054" "g.62021186T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943826T>C" "" "pathogenic" "" "0000182490" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00485" "SCN4A_000051" "g.62021206C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182491" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Lerche 1993, J Physiolog 470,13-22-" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182492" "0" "99" "17" "62021206" "62021206" "subst" "0" "02161" "SCN4A_000050" "g.62021206C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>T" "" "pathogenic" "" "0000182493" "11" "99" "17" "62021206" "62021206" "subst" "0" "02161" "SCN4A_000050" "g.62021206C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>T" "" "pathogenic" "" "0000182494" "21" "99" "17" "62021206" "62021206" "subst" "0" "02161" "SCN4A_000050" "g.62021206C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>T" "" "pathogenic" "" "0000182495" "0" "99" "17" "62021206" "62021206" "subst" "0" "02161" "SCN4A_000050" "g.62021206C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>T" "" "pathogenic" "" "0000182496" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182497" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182498" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182499" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182500" "11" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182501" "21" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182502" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182503" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182504" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000051" "g.62021206C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000182505" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182506" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182507" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182508" "11" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182509" "21" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182510" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182511" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182512" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182513" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182514" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182515" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182516" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182517" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182518" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182519" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182520" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182521" "0" "99" "17" "62021206" "62021206" "subst" "4.06577E-6" "02161" "SCN4A_000052" "g.62021206C>A" "" "Ptácek [1993]" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000182522" "0" "50" "17" "62021275" "62021275" "dup" "0" "02161" "SCN4A_000049" "g.62021275dup" "" "Ke [2006]" "" "" "" "Germline" "" "" "0" "" "" "g.63943915dup" "" "VUS" "" "0000182523" "0" "90" "17" "62022023" "62022027" "delins" "0" "02174" "SCN4A_000108" "g.62022023_62022027delinsC" "" "{PMID:Kubota 2011:21412952}, {DOI:Kubota 2011:10.1002/humu.21501}" "" "" "muscle RNA aberrant splicing; at least three possible protein changes; p.[Lys1259_Leu1305del;Asp1309ThrfsX4, Leu1305delinsMetArgAlaGlnProLeuGlyProSerArgCysTrpAlaSerLeuLeuProProLeuSerThrLeuHisCysThrAsnProGlnThrLeuProGluHisLeuPro, Val1267_Leu1305del;Asp1309ThrfsX4]." "De novo" "" "" "0" "" "" "g.63944663_63944667delinsC" "" "pathogenic" "" "0000182524" "0" "99" "17" "62022068" "62022068" "subst" "0" "02161" "SCN4A_000048" "g.62022068C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic" "" "0000182525" "11" "99" "17" "62022068" "62022068" "subst" "0" "02161" "SCN4A_000048" "g.62022068C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic" "" "0000182526" "21" "99" "17" "62022068" "62022068" "subst" "0" "02161" "SCN4A_000048" "g.62022068C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic" "" "0000182527" "0" "99" "17" "62022068" "62022068" "subst" "0" "02161" "SCN4A_000048" "g.62022068C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic" "" "0000182528" "0" "50" "17" "62022382" "62022382" "subst" "0.0195086" "00485" "SCN4A_000047" "g.62022382G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "VUS" "" "0000182529" "0" "50" "17" "62022382" "62022382" "subst" "0.0195086" "00485" "SCN4A_000047" "g.62022382G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "VUS" "" "0000182530" "0" "11" "17" "62022382" "62022382" "subst" "0.0195086" "02161" "SCN4A_000047" "g.62022382G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "benign" "" "0000182531" "0" "11" "17" "62022382" "62022382" "subst" "0.0195086" "02161" "SCN4A_000047" "g.62022382G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "benign" "" "0000182532" "0" "11" "17" "62022382" "62022382" "subst" "0.0195086" "02161" "SCN4A_000047" "g.62022382G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "benign" "" "0000182533" "0" "11" "17" "62022382" "62022382" "subst" "0.0195086" "02161" "SCN4A_000047" "g.62022382G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945022G>A" "" "benign" "" "0000182534" "0" "50" "17" "62022468" "62022469" "dup" "0" "02161" "SCN4A_000092" "g.62022468_62022469dup" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945108_63945109dup" "" "VUS" "" "0000182535" "1" "10" "17" "62022661" "62022661" "dup" "0" "00485" "SCN4A_000102" "g.62022661dup" "" "" "" "" "" "Germline" "" "rs58028318" "0" "" "" "g.63945301dup" "" "benign" "" "0000182536" "0" "50" "17" "62022710" "62022710" "subst" "0.0228316" "00485" "SCN4A_000107" "g.62022710T>C" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63945350T>C" "" "VUS" "" "0000182537" "0" "99" "17" "62022962" "62022962" "subst" "0" "02161" "SCN4A_000046" "g.62022962T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945602T>C" "" "pathogenic" "" "0000182538" "0" "99" "17" "62022962" "62022962" "subst" "0" "02161" "SCN4A_000046" "g.62022962T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945602T>C" "" "pathogenic" "" "0000182539" "0" "99" "17" "62022968" "62022968" "subst" "0" "02161" "SCN4A_000045" "g.62022968G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic" "" "0000182540" "0" "99" "17" "62022968" "62022968" "subst" "0" "02161" "SCN4A_000045" "g.62022968G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic" "" "0000182541" "0" "99" "17" "62022968" "62022968" "subst" "0" "02161" "SCN4A_000045" "g.62022968G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic" "" "0000182542" "0" "99" "17" "62022968" "62022968" "subst" "0" "02161" "SCN4A_000045" "g.62022968G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic" "" "0000182543" "0" "99" "17" "62022974" "62022974" "subst" "6.09469E-5" "02161" "SCN4A_000044" "g.62022974C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63945614C>T" "" "pathogenic" "" "0000182544" "0" "99" "17" "62024451" "62024451" "subst" "0" "02161" "SCN4A_000043" "g.62024451C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947091C>T" "" "pathogenic" "" "0000182545" "1" "10" "17" "62025238" "62025238" "subst" "0.316346" "00485" "SCN4A_000101" "g.62025238G>T" "" "" "" "" "" "Germline" "" "rs13341114" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182546" "0" "50" "17" "62025238" "62025238" "subst" "0.316346" "00485" "SCN4A_000101" "g.62025238G>T" "" "" "" "" "unclassified variant" "Germline" "" "rs13341114" "0" "" "" "g.63947878G>T" "" "VUS" "" "0000182547" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182548" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182549" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182550" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182551" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182552" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182553" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182554" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182555" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182556" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182557" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182558" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182559" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182560" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182561" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182562" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182563" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182564" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182565" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182566" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182567" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182568" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182569" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182570" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182571" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182572" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182573" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182574" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182575" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182576" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182577" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182578" "11" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182579" "21" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182580" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182581" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182582" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182583" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182584" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182585" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182586" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182587" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182588" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Bendahhou [1999]" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182589" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Bulman [1997]" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182590" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Ren [2006]" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182591" "0" "11" "17" "62025238" "62025238" "subst" "0.316346" "02161" "SCN4A_000042" "g.62025238G>T" "" "Wu [2005]" "" "" "" "Germline" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000182592" "0" "50" "17" "62026786" "62026786" "subst" "0" "00485" "SCN4A_000105" "g.62026786C>T" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63949426C>T" "" "VUS" "" "0000182593" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182594" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182595" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182596" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182597" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182598" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182599" "0" "11" "17" "62028920" "62028920" "subst" "0.00986214" "02161" "SCN4A_000041" "g.62028920C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000182600" "0" "11" "17" "62028940" "62028940" "subst" "0.00049145" "02161" "SCN4A_000040" "g.62028940C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951580C>T" "" "benign" "" "0000182601" "0" "10" "17" "62029006" "62029006" "subst" "0.0348807" "00485" "SCN4A_000039" "g.62029006A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182602" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182603" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182604" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182605" "11" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182606" "21" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182607" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182608" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182609" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182610" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182611" "0" "11" "17" "62029006" "62029006" "subst" "0.0348807" "02161" "SCN4A_000039" "g.62029006A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000182612" "0" "50" "17" "62029014" "62029014" "subst" "0.00100092" "02161" "SCN4A_000038" "g.62029014G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951654G>A" "" "VUS" "" "0000182613" "0" "50" "17" "62029014" "62029014" "subst" "0.00100092" "02161" "SCN4A_000038" "g.62029014G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63951654G>A" "" "VUS" "" "0000182614" "0" "50" "17" "62029226" "62029226" "subst" "0" "02161" "SCN4A_000037" "g.62029226A>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63951866A>T" "" "VUS" "" "0000182615" "0" "50" "17" "62029226" "62029226" "subst" "0" "02161" "SCN4A_000037" "g.62029226A>T" "" "Okuda [2001]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63951866A>T" "" "VUS" "" "0000182616" "0" "10" "17" "62034479" "62034479" "subst" "0.0339736" "00485" "SCN4A_000103" "g.62034479C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957119C>T" "" "benign" "" "0000182617" "0" "10" "17" "62034557" "62034557" "subst" "0.01057" "00485" "SCN4A_000036" "g.62034557C>T" "" "" "" "" "" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "benign" "" "0000182618" "0" "99" "17" "62034557" "62034557" "subst" "0.01057" "02161" "SCN4A_000036" "g.62034557C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "pathogenic" "" "0000182619" "0" "99" "17" "62034557" "62034557" "subst" "0.01057" "02161" "SCN4A_000036" "g.62034557C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "pathogenic" "" "0000182620" "0" "99" "17" "62034557" "62034557" "subst" "0.01057" "02161" "SCN4A_000036" "g.62034557C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "pathogenic" "" "0000182621" "0" "10" "17" "62034609" "62034609" "subst" "0.0171247" "00485" "SCN4A_000035" "g.62034609G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182622" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182623" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182624" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182625" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182626" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182627" "0" "11" "17" "62034609" "62034609" "subst" "0.0171247" "02161" "SCN4A_000035" "g.62034609G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000182628" "0" "50" "17" "62034710" "62034710" "subst" "0.000629498" "02161" "SCN4A_000034" "g.62034710C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957350C>T" "" "VUS" "" "0000182629" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182630" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182631" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182632" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182633" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182634" "0" "99" "17" "62034787" "62034787" "subst" "0" "02161" "SCN4A_000033" "g.62034787G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000182635" "0" "70" "17" "62034790" "62034790" "subst" "0" "00513" "SCN4A_000032" "g.62034790A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.63957430A>G" "" "likely pathogenic" "" "0000182636" "0" "50" "17" "62034790" "62034790" "subst" "0" "02161" "SCN4A_000032" "g.62034790A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957430A>G" "" "VUS" "" "0000182637" "0" "99" "17" "62034820" "62034820" "subst" "0" "02161" "SCN4A_000031" "g.62034820A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957460A>G" "" "pathogenic" "" "0000182638" "0" "99" "17" "62034820" "62034820" "subst" "0" "02161" "SCN4A_000031" "g.62034820A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957460A>G" "" "pathogenic" "" "0000182639" "0" "99" "17" "62034833" "62034833" "subst" "0" "02161" "SCN4A_000028" "g.62034833G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957473G>T" "" "pathogenic" "" "0000182640" "0" "99" "17" "62034833" "62034833" "subst" "0" "02161" "SCN4A_000029" "g.62034833G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957473G>C" "" "pathogenic" "" "0000182641" "0" "99" "17" "62034833" "62034833" "subst" "0" "02161" "SCN4A_000030" "g.62034833G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957473G>A" "" "pathogenic" "" "0000182642" "0" "99" "17" "62034833" "62034833" "subst" "0" "02161" "SCN4A_000030" "g.62034833G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957473G>A" "" "pathogenic" "" "0000182643" "0" "99" "17" "62034833" "62034833" "subst" "0" "02161" "SCN4A_000030" "g.62034833G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957473G>A" "" "pathogenic" "" "0000182644" "0" "99" "17" "62034874" "62034874" "subst" "0" "02161" "SCN4A_000026" "g.62034874G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63957514G>A" "" "pathogenic" "" "0000182645" "0" "99" "17" "62034874" "62034874" "subst" "8.29683E-6" "02161" "SCN4A_000027" "g.62034874C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957514C>T" "" "pathogenic" "" "0000182646" "0" "99" "17" "62034875" "62034875" "subst" "0" "02161" "SCN4A_000025" "g.62034875G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63957515G>C" "" "pathogenic" "" "0000182647" "0" "99" "17" "62036629" "62036629" "subst" "1.22577E-5" "02161" "SCN4A_000023" "g.62036629C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959269C>T" "" "pathogenic" "" "0000182648" "0" "99" "17" "62036629" "62036629" "subst" "1.22577E-5" "02161" "SCN4A_000023" "g.62036629C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959269C>T" "" "pathogenic" "" "0000182649" "0" "99" "17" "62036629" "62036629" "subst" "1.22577E-5" "02161" "SCN4A_000023" "g.62036629C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959269C>T" "" "pathogenic" "" "0000182650" "0" "90" "17" "62036630" "62036630" "subst" "0" "00485" "SCN4A_000022" "g.62036630G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182651" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000020" "g.62036630G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>T" "" "pathogenic" "" "0000182652" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000020" "g.62036630G>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>T" "" "pathogenic" "" "0000182653" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000021" "g.62036630G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>C" "" "pathogenic" "" "0000182654" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182655" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182656" "11" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182657" "21" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182658" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Lerche [1993]" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182659" "0" "99" "17" "62036630" "62036630" "subst" "0" "02161" "SCN4A_000022" "g.62036630G>A" "" "Kim 2004 Neuromuscul Disord 14, 727" "" "" "" "Germline" "" "" "0" "" "" "g.63959270G>A" "" "pathogenic" "" "0000182660" "0" "99" "17" "62036638" "62036638" "subst" "8.14923E-6" "02161" "SCN4A_000019" "g.62036638C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959278C>T" "" "pathogenic" "" "0000182661" "0" "50" "17" "62036823" "62036823" "dup" "0" "02161" "SCN4A_000018" "g.62036823dup" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63959463dup" "" "VUS" "" "0000182662" "1" "10" "17" "62041068" "62041068" "subst" "0.930164" "00485" "SCN4A_000093" "g.62041068T>C" "" "" "" "" "" "Germline" "" "rs6504191" "0" "" "" "g.63963708T>C" "" "benign" "" "0000182663" "0" "10" "17" "62041068" "62041068" "subst" "0.930164" "00485" "SCN4A_000093" "g.62041068T>C" "" "" "" "" "" "Germline" "" "rs6504191" "0" "" "" "g.63963708T>C" "" "benign" "" "0000182664" "11" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182665" "21" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182666" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182667" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182668" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182669" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182670" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182671" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182672" "11" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182673" "21" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182674" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182675" "0" "11" "17" "62041068" "62041068" "subst" "0" "02161" "SCN4A_000017" "g.62041068C>T" "" "Bendahhou [2000]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63963708C>T" "" "benign" "" "0000182676" "0" "50" "17" "62041208" "62041208" "subst" "0.0210944" "00485" "SCN4A_000016" "g.62041208G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63963848G>A" "" "VUS" "" "0000182677" "0" "50" "17" "62041208" "62041208" "subst" "0.0210944" "02161" "SCN4A_000016" "g.62041208G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63963848G>A" "" "VUS" "" "0000182678" "0" "50" "17" "62041208" "62041208" "subst" "0.0210944" "02161" "SCN4A_000016" "g.62041208G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63963848G>A" "" "VUS" "" "0000182679" "0" "50" "17" "62041208" "62041208" "subst" "0.0210944" "02161" "SCN4A_000016" "g.62041208G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63963848G>A" "" "VUS" "" "0000182680" "0" "50" "17" "62041208" "62041208" "subst" "0.0210944" "02161" "SCN4A_000016" "g.62041208G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63963848G>A" "" "VUS" "" "0000182681" "0" "99" "17" "62041947" "62041947" "subst" "4.06805E-6" "02161" "SCN4A_000015" "g.62041947C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000182682" "0" "99" "17" "62041947" "62041947" "subst" "4.06805E-6" "02161" "SCN4A_000015" "g.62041947C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000182683" "0" "99" "17" "62041947" "62041947" "subst" "4.06805E-6" "02161" "SCN4A_000015" "g.62041947C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000182684" "11" "99" "17" "62041947" "62041947" "subst" "4.06805E-6" "02161" "SCN4A_000015" "g.62041947C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000182685" "21" "99" "17" "62041947" "62041947" "subst" "4.06805E-6" "02161" "SCN4A_000015" "g.62041947C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000182686" "1" "10" "17" "62042078" "62042078" "subst" "0.892971" "00485" "SCN4A_000100" "g.62042078T>C" "" "" "" "" "" "Germline" "" "rs2877373" "0" "" "" "g.63964718T>C" "" "benign" "" "0000182687" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182688" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182689" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182690" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182691" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182692" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182693" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182694" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182695" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182696" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182697" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182698" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182699" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182700" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182701" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182702" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182703" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182704" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182705" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182706" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182707" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182708" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182709" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182710" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182711" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182712" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182713" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182714" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182715" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182716" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182717" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182718" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182719" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182720" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182721" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182722" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182723" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182724" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182725" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182726" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182727" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182728" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182729" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182730" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182731" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182732" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182733" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182734" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182735" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182736" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182737" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182738" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182739" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182740" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182741" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182742" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182743" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182744" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182745" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182746" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182747" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182748" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182749" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182750" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182751" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182752" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182753" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182754" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182755" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182756" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182757" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182758" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182759" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182760" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182761" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182762" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182763" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182764" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182765" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182766" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182767" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182768" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182769" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182770" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182771" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182772" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182773" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182774" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182775" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182776" "11" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182777" "21" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182778" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Bendahhou [2000]" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182779" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Ptácek [1991]" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182780" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Sasaki [1999]" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182781" "0" "11" "17" "62043357" "62043357" "subst" "0" "02161" "SCN4A_000014" "g.62043357C>G" "" "Tsujino [2003]" "" "" "" "Germline" "" "" "0" "" "" "g.63965997C>G" "" "benign" "" "0000182782" "0" "50" "17" "62043497" "62043497" "subst" "0" "02161" "SCN4A_000013" "g.62043497T>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63966137T>G" "" "VUS" "" "0000182783" "0" "10" "17" "62043537" "62043537" "subst" "0.0220274" "00485" "SCN4A_000012" "g.62043537A>G" "" "" "" "Tyr389Tyr" "" "Germline" "" "" "0" "" "" "g.63966177A>G" "" "benign" "" "0000182784" "0" "11" "17" "62043537" "62043537" "subst" "0.0220274" "02161" "SCN4A_000012" "g.62043537A>G" "" "Leiden, unpublished" "" "Tyr389Tyr" "" "Germline" "" "" "0" "" "" "g.63966177A>G" "" "benign" "" "0000182785" "0" "11" "17" "62043537" "62043537" "subst" "0.0220274" "02161" "SCN4A_000012" "g.62043537A>G" "" "Leiden, unpublished" "" "Tyr389Tyr" "" "Germline" "" "" "0" "" "" "g.63966177A>G" "" "benign" "" "0000182786" "0" "11" "17" "62043537" "62043537" "subst" "0.0220274" "02161" "SCN4A_000012" "g.62043537A>G" "" "Leiden, unpublished" "" "Tyr389Tyr" "" "Germline" "" "" "0" "" "" "g.63966177A>G" "" "benign" "" "0000182787" "0" "11" "17" "62043834" "62043834" "subst" "0.00251846" "02161" "SCN4A_000011" "g.62043834C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63966474C>T" "" "benign" "" "0000182788" "0" "11" "17" "62043834" "62043834" "subst" "0.00251846" "02161" "SCN4A_000011" "g.62043834C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63966474C>T" "" "benign" "" "0000182789" "0" "11" "17" "62043834" "62043834" "subst" "0.00251846" "02161" "SCN4A_000011" "g.62043834C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63966474C>T" "" "benign" "" "0000182790" "0" "11" "17" "62043834" "62043834" "subst" "0.00251846" "02161" "SCN4A_000011" "g.62043834C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63966474C>T" "" "benign" "" "0000182791" "0" "50" "17" "62045451" "62045451" "subst" "0.00864289" "02161" "SCN4A_000010" "g.62045451G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968091G>A" "" "VUS" "" "0000182792" "0" "11" "17" "62045555" "62045555" "subst" "0.0287581" "02161" "SCN4A_000009" "g.62045555G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000182793" "0" "11" "17" "62045555" "62045555" "subst" "0.0287581" "02161" "SCN4A_000009" "g.62045555G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000182794" "0" "11" "17" "62045555" "62045555" "subst" "0.0287581" "02161" "SCN4A_000009" "g.62045555G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000182795" "0" "11" "17" "62045555" "62045555" "subst" "0.0287581" "02161" "SCN4A_000009" "g.62045555G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000182796" "0" "11" "17" "62045555" "62045555" "subst" "0.0287581" "02161" "SCN4A_000009" "g.62045555G>A" "" "Bonhours [2003]" "" "" "" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000182797" "0" "99" "17" "62045623" "62045623" "subst" "0" "02161" "SCN4A_000008" "g.62045623G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968263G>C" "" "pathogenic" "" "0000182798" "0" "99" "17" "62045670" "62045670" "subst" "0" "02161" "SCN4A_000007" "g.62045670A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968310A>G" "" "pathogenic" "" "0000182799" "0" "99" "17" "62045670" "62045670" "subst" "0" "02161" "SCN4A_000007" "g.62045670A>G" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968310A>G" "" "pathogenic" "" "0000182800" "0" "99" "17" "62045671" "62045671" "subst" "0" "02161" "SCN4A_000006" "g.62045671G>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968311G>C" "" "pathogenic" "" "0000182801" "0" "50" "17" "62045810" "62045810" "subst" "0" "02161" "SCN4A_000005" "g.62045810T>C" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63968450T>C" "" "VUS" "" "0000182802" "1" "10" "17" "62048467" "62048467" "subst" "0" "00485" "SCN4A_000099" "g.62048467A>G" "" "" "" "" "" "Germline" "" "rs2302236" "0" "" "" "g.63971107A>G" "" "benign" "" "0000182803" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182804" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182805" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182806" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182807" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182808" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182809" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182810" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182811" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182812" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182813" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182814" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182815" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182816" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182817" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182818" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182819" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182820" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182821" "11" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182822" "21" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182823" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Schoser [2007]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182824" "0" "11" "17" "62048467" "62048467" "subst" "0" "02161" "SCN4A_000004" "g.62048467G>A" "" "Wang [1995]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971107G>A" "" "benign" "" "0000182825" "0" "50" "17" "62049204" "62049204" "subst" "0.00987425" "00485" "SCN4A_000106" "g.62049204G>C" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.63971844G>C" "" "VUS" "" "0000182826" "1" "10" "17" "62049235" "62049235" "subst" "0.987711" "00485" "SCN4A_000098" "g.62049235A>G" "" "" "" "" "" "Germline" "" "rs9892013" "0" "" "" "g.63971875A>G" "" "benign" "" "0000182827" "0" "50" "17" "62049235" "62049235" "subst" "0" "02161" "SCN4A_000003" "g.62049235G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971875G>A" "" "VUS" "" "0000182828" "0" "50" "17" "62049235" "62049235" "subst" "0" "02161" "SCN4A_000003" "g.62049235G>A" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971875G>A" "" "VUS" "" "0000182829" "0" "50" "17" "62049235" "62049235" "subst" "0" "02161" "SCN4A_000003" "g.62049235G>A" "" "Carle [2006]" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63971875G>A" "" "VUS" "" "0000182830" "0" "50" "17" "62049687" "62049687" "subst" "0.00514415" "02161" "SCN4A_000053" "g.62049687G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63972327G>A" "" "VUS" "" "0000182831" "0" "50" "17" "62049687" "62049687" "subst" "0.00514415" "02161" "SCN4A_000053" "g.62049687G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63972327G>A" "" "VUS" "" "0000182832" "0" "10" "17" "62049738" "62049738" "subst" "0.0472854" "00485" "SCN4A_000002" "g.62049738G>A" "" "" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182833" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182834" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182835" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182836" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182837" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182838" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182839" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182840" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182841" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182842" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182843" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182844" "0" "11" "17" "62049738" "62049738" "subst" "0.0472854" "02161" "SCN4A_000002" "g.62049738G>A" "" "Leiden, unpublished" "" "" "" "Germline" "" "rs41280108" "0" "" "" "g.63972378G>A" "" "benign" "" "0000182845" "0" "50" "17" "62049749" "62049749" "subst" "0.00240883" "02161" "SCN4A_000001" "g.62049749C>T" "" "Leiden, unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.63972389C>T" "" "VUS" "" "0000182846" "0" "99" "17" "62050001" "62050001" "subst" "0" "02161" "SCN4A_000024" "g.62050001C>G" "" "Leiden, unpublished" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.63972641C>G" "" "pathogenic" "" "0000251911" "0" "30" "17" "62049954" "62049954" "subst" "0.000394684" "02326" "SCN4A_000165" "g.62049954A>G" "" "" "" "SCN4A(NM_000334.4):c.248T>C (p.L83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972594A>G" "" "likely benign" "" "0000251915" "0" "30" "17" "62049574" "62049574" "subst" "0.00112491" "02326" "SCN4A_000163" "g.62049574A>G" "" "" "" "SCN4A(NM_000334.4):c.404T>C (p.(Met135Thr), p.M135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972214A>G" "" "likely benign" "" "0000297944" "0" "10" "17" "62041068" "62041068" "subst" "0.930164" "02325" "SCN4A_000093" "g.62041068T>C" "" "" "" "SCN4A(NM_000334.4):c.1570A>G (p.S524G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63963708T>C" "" "benign" "" "0000301886" "0" "10" "17" "62041068" "62041068" "subst" "0.930164" "02326" "SCN4A_000093" "g.62041068T>C" "" "" "" "SCN4A(NM_000334.4):c.1570A>G (p.S524G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63963708T>C" "" "benign" "" "0000301887" "0" "30" "17" "62034557" "62034557" "subst" "0.01057" "02326" "SCN4A_000036" "g.62034557C>T" "" "" "" "SCN4A(NM_000334.4):c.2341G>A (p.(Val781Ile), p.V781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63957197C>T" "" "likely benign" "" "0000301888" "0" "30" "17" "62029014" "62029014" "subst" "0.00100092" "02326" "SCN4A_000038" "g.62029014G>A" "" "" "" "SCN4A(NM_000334.4):c.2623C>T (p.(Pro875Ser), p.P875S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63951654G>A" "" "likely benign" "" "0000301890" "0" "30" "17" "62028889" "62028889" "subst" "0.000572593" "02326" "SCN4A_000159" "g.62028889G>C" "" "" "" "SCN4A(NM_000334.4):c.2748C>G (p.N916K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63951529G>C" "" "likely benign" "" "0000301891" "0" "10" "17" "62024398" "62024398" "subst" "0.00166525" "02326" "SCN4A_000158" "g.62024398C>T" "" "" "" "SCN4A(NM_000334.4):c.3441+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63947038C>T" "" "benign" "" "0000301892" "0" "30" "17" "62022710" "62022710" "subst" "0.0228316" "02326" "SCN4A_000107" "g.62022710T>C" "" "" "" "SCN4A(NM_000334.4):c.3720+10A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945350T>C" "" "likely benign" "" "0000307749" "0" "50" "17" "62041916" "62041916" "subst" "8.12638E-6" "01943" "SCN4A_000162" "g.62041916T>G" "" "" "" "SCN4A(NM_000334.4):c.1364A>C (p.E455A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63964556T>G" "" "VUS" "" "0000307750" "0" "30" "17" "62041867" "62041867" "subst" "0.000617394" "01943" "SCN4A_000161" "g.62041867C>T" "" "" "" "SCN4A(NM_000334.4):c.1413G>A (p.M471I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63964507C>T" "" "likely benign" "" "0000307751" "0" "30" "17" "62022891" "62022891" "subst" "3.24847E-5" "01943" "SCN4A_000157" "g.62022891G>A" "" "" "" "SCN4A(NM_000334.4):c.3549C>T (p.A1183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945531G>A" "" "likely benign" "" "0000307752" "0" "30" "17" "62049591" "62049591" "subst" "3.68862E-5" "01943" "SCN4A_000164" "g.62049591G>T" "" "" "" "SCN4A(NM_000334.4):c.393-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972231G>T" "" "likely benign" "" "0000325556" "0" "30" "17" "62034557" "62034557" "subst" "0.01057" "01804" "SCN4A_000036" "g.62034557C>T" "" "" "" "SCN4A(NM_000334.4):c.2341G>A (p.(Val781Ile), p.V781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63957197C>T" "" "likely benign" "" "0000325558" "0" "50" "17" "62050084" "62050084" "subst" "0" "01804" "SCN4A_000166" "g.62050084G>A" "" "" "" "SCN4A(NM_000334.4):c.118C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972724G>A" "" "VUS" "" "0000338525" "0" "10" "17" "62022710" "62022710" "subst" "0.0228316" "02327" "SCN4A_000107" "g.62022710T>C" "" "" "" "SCN4A(NM_000334.4):c.3720+10A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945350T>C" "" "benign" "" "0000338526" "0" "10" "17" "62025238" "62025238" "subst" "0.316346" "02327" "SCN4A_000042" "g.62025238G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63947878G>T" "" "benign" "" "0000338527" "0" "10" "17" "62041012" "62041012" "subst" "0.00307578" "02327" "SCN4A_000129" "g.62041012C>T" "" "" "" "SCN4A(NM_000334.4):c.1606+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63963652C>T" "" "benign" "" "0000338528" "0" "10" "17" "62043834" "62043834" "subst" "0.00251846" "02327" "SCN4A_000011" "g.62043834C>T" "" "" "" "SCN4A(NM_000334.4):c.1100+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63966474C>T" "" "benign" "" "0000340318" "0" "10" "17" "62018773" "62018773" "subst" "0.367296" "02327" "SCN4A_000086" "g.62018773T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941413T>C" "" "benign" "" "0000340319" "0" "30" "17" "62019037" "62019037" "subst" "2.03041E-5" "02327" "SCN4A_000170" "g.62019037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941677C>T" "" "likely benign" "" "0000340320" "0" "10" "17" "62019103" "62019103" "subst" "0.16573" "02327" "SCN4A_000082" "g.62019103G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941743G>T" "" "benign" "" "0000340321" "0" "10" "17" "62022382" "62022382" "subst" "0.0195086" "02327" "SCN4A_000047" "g.62022382G>A" "" "" "" "SCN4A(NM_000334.4):c.3759C>T (p.(Ala1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945022G>A" "" "benign" "" "0000340322" "0" "30" "17" "62026880" "62026880" "subst" "3.72844E-5" "02327" "SCN4A_000177" "g.62026880C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63949520C>T" "" "likely benign" "" "0000340323" "0" "10" "17" "62029006" "62029006" "subst" "0.0348807" "02327" "SCN4A_000039" "g.62029006A>G" "" "" "" "SCN4A(NM_000334.4):c.2631T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63951646A>G" "" "benign" "" "0000340324" "0" "10" "17" "62034609" "62034609" "subst" "0.0171247" "02327" "SCN4A_000035" "g.62034609G>A" "" "" "" "SCN4A(NM_000334.4):c.2289C>T (p.(Ile763=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63957249G>A" "" "benign" "" "0000340326" "0" "10" "17" "62043537" "62043537" "subst" "0.0220274" "02327" "SCN4A_000012" "g.62043537A>G" "" "" "" "SCN4A(NM_000334.4):c.1167T>C (p.(Tyr389=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63966177A>G" "" "benign" "" "0000340327" "0" "10" "17" "62045555" "62045555" "subst" "0.0287581" "02327" "SCN4A_000009" "g.62045555G>A" "" "" "" "SCN4A(NM_000334.4):c.864C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63968195G>A" "" "benign" "" "0000340330" "0" "10" "17" "62049204" "62049204" "subst" "0.00987425" "02327" "SCN4A_000106" "g.62049204G>C" "" "" "" "SCN4A(NM_000334.4):c.489C>G (p.(Thr163=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63971844G>C" "" "benign" "" "0000340331" "0" "10" "17" "62049738" "62049738" "subst" "0.0472854" "02327" "SCN4A_000002" "g.62049738G>A" "" "" "" "SCN4A(NM_000334.4):c.366C>T (p.(Arg122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972378G>A" "" "benign" "" "0000341108" "0" "50" "17" "62049785" "62049785" "subst" "1.62488E-5" "02327" "SCN4A_000182" "g.62049785C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63972425C>T" "" "VUS" "" "0000341742" "0" "90" "17" "62024451" "62024451" "subst" "0" "02327" "SCN4A_000043" "g.62024451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63947091C>T" "" "pathogenic" "" "0000341932" "0" "90" "17" "62019300" "62019300" "subst" "0" "02327" "SCN4A_000071" "g.62019300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000341933" "0" "90" "17" "62019300" "62019300" "subst" "0" "02327" "SCN4A_000069" "g.62019300G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941940G>T" "" "pathogenic" "" "0000341940" "0" "50" "17" "62019254" "62019254" "subst" "8.12929E-6" "02327" "SCN4A_000076" "g.62019254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941894C>T" "" "VUS" "" "0000342311" "0" "70" "17" "62048552" "62048552" "subst" "0" "02327" "SCN4A_000181" "g.62048552G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63971192G>A" "" "likely pathogenic" "" "0000343236" "0" "90" "17" "62036638" "62036638" "subst" "8.14923E-6" "02327" "SCN4A_000019" "g.62036638C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63959278C>T" "" "pathogenic" "" "0000343550" "0" "50" "17" "62026022" "62026022" "subst" "4.87821E-5" "02327" "SCN4A_000176" "g.62026022G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63948662G>C" "" "VUS" "" "0000343596" "0" "10" "17" "62020348" "62020348" "subst" "0.52177" "02327" "SCN4A_000094" "g.62020348T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63942988T>C" "" "benign" "" "0000344249" "0" "50" "17" "62022814" "62022814" "subst" "0" "02327" "SCN4A_000175" "g.62022814C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945454C>A" "" "VUS" "" "0000344854" "0" "70" "17" "62041872" "62041872" "subst" "4.06164E-6" "02327" "SCN4A_000178" "g.62041872G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63964512G>A" "" "likely pathogenic" "" "0000345178" "0" "70" "17" "62018538" "62018538" "subst" "0" "02327" "SCN4A_000168" "g.62018538C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941178C>G" "" "likely pathogenic" "" "0000345691" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "02327" "SCN4A_000051" "g.62021206C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000345692" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "02327" "SCN4A_000052" "g.62021206C>A" "" "" "" "SCN4A(NM_000334.4):c.3917G>T (p.G1306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000346569" "0" "50" "17" "62022073" "62022073" "subst" "0" "02327" "SCN4A_000174" "g.62022073A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63944713A>T" "" "VUS" "" "0000346581" "0" "50" "17" "62019278" "62019278" "subst" "8.1491E-6" "02327" "SCN4A_000172" "g.62019278A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941918A>G" "" "VUS" "" "0000348145" "0" "70" "17" "62022968" "62022968" "subst" "0" "02327" "SCN4A_000045" "g.62022968G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63945608G>A" "" "likely pathogenic" "" "0000348183" "0" "50" "17" "62021117" "62021117" "subst" "0" "02327" "SCN4A_000173" "g.62021117G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63943757G>T" "" "VUS" "" "0000348419" "0" "70" "17" "62043560" "62043560" "subst" "0" "02327" "SCN4A_000179" "g.62043560G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63966200G>T" "" "likely pathogenic" "" "0000349076" "0" "10" "17" "62041068" "62041068" "subst" "0.930164" "02327" "SCN4A_000093" "g.62041068T>C" "" "" "" "SCN4A(NM_000334.4):c.1570A>G (p.S524G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63963708T>C" "" "benign" "" "0000349206" "0" "10" "17" "62028920" "62028920" "subst" "0.00986214" "02327" "SCN4A_000041" "g.62028920C>G" "" "" "" "SCN4A(NM_000334.4):c.2717G>C (p.(Ser906Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63951560C>G" "" "benign" "" "0000349272" "0" "90" "17" "62021185" "62021185" "subst" "0" "02327" "SCN4A_000055" "g.62021185G>A" "" "" "" "SCN4A(NM_000334.4):c.3938C>T (p.(Thr1313Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000349303" "0" "50" "17" "62018829" "62018829" "subst" "0" "02327" "SCN4A_000169" "g.62018829T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941469T>G" "" "VUS" "" "0000349611" "0" "90" "17" "62034787" "62034787" "subst" "0" "02327" "SCN4A_000033" "g.62034787G>A" "" "" "" "SCN4A(NM_000334.4):c.2111C>T (p.T704M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000349772" "0" "30" "17" "62045467" "62045467" "subst" "0.000625386" "02327" "SCN4A_000180" "g.62045467A>G" "" "" "" "SCN4A(NM_000334.4):c.952T>C (p.W318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63968107A>G" "" "likely benign" "" "0000350297" "0" "70" "17" "62019270" "62019270" "subst" "4.0707E-6" "02327" "SCN4A_000075" "g.62019270C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941910C>A" "" "likely pathogenic" "" "0000350309" "0" "30" "17" "62019123" "62019123" "subst" "4.06055E-5" "02327" "SCN4A_000171" "g.62019123C>T" "" "" "" "SCN4A(NM_000334.4):c.4519G>A (p.(Val1507Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941763C>T" "" "likely benign" "" "0000350325" "0" "70" "17" "62018877" "62018877" "subst" "0" "02327" "SCN4A_000084" "g.62018877C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941517C>T" "" "likely pathogenic" "" "0000350543" "0" "90" "17" "62041947" "62041947" "subst" "4.06805E-6" "02327" "SCN4A_000015" "g.62041947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic" "" "0000351311" "0" "90" "17" "62018868" "62018868" "subst" "0" "02327" "SCN4A_000085" "g.62018868T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63941508T>C" "" "pathogenic" "" "0000439762" "0" "70" "17" "62024451" "62024451" "subst" "0" "01164" "SCN4A_000043" "g.62024451C>T" "" "" "" "" "ACMG grading: PM2,PP3,PS3,PP5; CMS; no second variant detected in SCN4A; reported in Carle 2006. Biochem Biophys Res Commun 348: 653" "Germline" "" "rs80338789" "0" "" "" "g.63947091C>T" "" "likely pathogenic" "ACMG" "0000439876" "0" "70" "17" "62020398" "62020399" "del" "1.2184E-5" "01164" "SCN4A_000183" "g.62020398_62020399del" "" "" "" "" "no second variant detected in SCN4A, co.occurrence with VUS in COL6A3 (c.4615G>A p.Gly1539Arg)" "Germline" "" "rs767345381" "0" "" "" "g.63943038_63943039del" "" "likely pathogenic" "ACMG" "0000562660" "0" "30" "17" "62018580" "62018580" "subst" "0" "02327" "SCN4A_000186" "g.62018580G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941220G>A" "" "likely benign" "" "0000562661" "0" "50" "17" "62018693" "62018693" "subst" "2.43706E-5" "02327" "SCN4A_000187" "g.62018693G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941333G>A" "" "VUS" "" "0000562662" "0" "30" "17" "62019123" "62019123" "subst" "4.06055E-5" "01804" "SCN4A_000171" "g.62019123C>T" "" "" "" "SCN4A(NM_000334.4):c.4519G>A (p.(Val1507Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941763C>T" "" "likely benign" "" "0000562663" "0" "50" "17" "62019264" "62019264" "subst" "2.03366E-5" "02327" "SCN4A_000188" "g.62019264G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941904G>A" "" "VUS" "" "0000562664" "0" "90" "17" "62019299" "62019299" "subst" "0" "02327" "SCN4A_000072" "g.62019299C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941939C>T" "" "pathogenic" "" "0000562665" "0" "50" "17" "62020251" "62020251" "subst" "4.0625E-6" "02329" "SCN4A_000189" "g.62020251C>T" "" "" "" "SCN4A(NM_000334.4):c.4223G>A (p.R1408H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63942891C>T" "" "VUS" "" "0000562667" "0" "50" "17" "62022041" "62022041" "subst" "0" "02327" "SCN4A_000190" "g.62022041T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63944681T>G" "" "VUS" "" "0000562669" "0" "50" "17" "62022372" "62022372" "subst" "0" "01804" "SCN4A_000192" "g.62022372G>A" "" "" "" "SCN4A(NM_000334.4):c.3769C>T (p.(Arg1257Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63945012G>A" "" "VUS" "" "0000562670" "0" "30" "17" "62024398" "62024398" "subst" "0.00166525" "01804" "SCN4A_000158" "g.62024398C>T" "" "" "" "SCN4A(NM_000334.4):c.3441+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63947038C>T" "" "likely benign" "" "0000562671" "0" "50" "17" "62024406" "62024406" "subst" "0" "01804" "SCN4A_000194" "g.62024406C>T" "" "" "" "SCN4A(NM_000334.4):c.3440G>A (p.(Arg1147Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63947046C>T" "" "VUS" "" "0000562672" "0" "50" "17" "62025417" "62025417" "subst" "0" "01804" "SCN4A_000195" "g.62025417C>T" "" "" "" "SCN4A(NM_000334.4):c.3151G>A (p.(Glu1051Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63948057C>T" "" "VUS" "" "0000562673" "0" "50" "17" "62026053" "62026053" "subst" "0" "01943" "SCN4A_000196" "g.62026053C>G" "" "" "" "SCN4A(NM_000334.4):c.3062G>C (p.R1021P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63948693C>G" "" "VUS" "" "0000562674" "0" "90" "17" "62026763" "62026763" "subst" "0" "02327" "SCN4A_000197" "g.62026763G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63949403G>T" "" "pathogenic" "" "0000562675" "0" "50" "17" "62026852" "62026852" "subst" "0.0011576" "01943" "SCN4A_000198" "g.62026852C>T" "" "" "" "SCN4A(NM_000334.4):c.2890G>A (p.V964I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63949492C>T" "" "VUS" "" "0000562677" "0" "30" "17" "62028843" "62028843" "subst" "7.31808E-5" "02327" "SCN4A_000200" "g.62028843C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63951483C>T" "" "likely benign" "" "0000562678" "0" "30" "17" "62029014" "62029014" "subst" "0.00100092" "01804" "SCN4A_000038" "g.62029014G>A" "" "" "" "SCN4A(NM_000334.4):c.2623C>T (p.(Pro875Ser), p.P875S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63951654G>A" "" "likely benign" "" "0000562679" "0" "10" "17" "62034557" "62034557" "subst" "0.01057" "02325" "SCN4A_000036" "g.62034557C>T" "" "" "" "SCN4A(NM_000334.4):c.2341G>A (p.(Val781Ile), p.V781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63957197C>T" "" "benign" "" "0000562680" "0" "90" "17" "62036630" "62036630" "subst" "0" "02327" "SCN4A_000021" "g.62036630G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63959270G>C" "" "pathogenic" "" "0000562681" "0" "30" "17" "62038546" "62038546" "subst" "0" "01804" "SCN4A_000201" "g.62038546T>A" "" "" "" "SCN4A(NM_000334.4):c.1845+7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961186T>A" "" "likely benign" "" "0000562682" "0" "30" "17" "62038546" "62038546" "subst" "0.111551" "01804" "SCN4A_000202" "g.62038546T>C" "" "" "" "SCN4A(NM_000334.4):c.1845+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961186T>C" "" "likely benign" "" "0000562683" "0" "30" "17" "62038550" "62038550" "subst" "0" "01943" "SCN4A_000203" "g.62038550T>C" "" "" "" "SCN4A(NM_000334.4):c.1845+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961190T>C" "" "likely benign" "" "0000562684" "0" "30" "17" "62038550" "62038550" "subst" "0" "01804" "SCN4A_000203" "g.62038550T>C" "" "" "" "SCN4A(NM_000334.4):c.1845+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961190T>C" "" "likely benign" "" "0000562686" "0" "30" "17" "62038551" "62038551" "subst" "0" "01804" "SCN4A_000205" "g.62038551A>C" "" "" "" "SCN4A(NM_000334.4):c.1845+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961191A>C" "" "likely benign" "" "0000562687" "0" "30" "17" "62038554" "62038554" "subst" "0" "01804" "SCN4A_000206" "g.62038554A>C" "" "" "" "SCN4A(NM_000334.4):c.1844T>G (p.(Leu615Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961194A>C" "" "likely benign" "" "0000562689" "0" "50" "17" "62038602" "62038602" "subst" "0.00278805" "01943" "SCN4A_000127" "g.62038602T>C" "" "" "" "SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63961242T>C" "" "VUS" "" "0000562691" "0" "30" "17" "62041176" "62041176" "subst" "0.000558835" "01943" "SCN4A_000207" "g.62041176C>T" "" "" "" "SCN4A(NM_000334.4):c.1462G>A (p.A488T, p.(Ala488Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63963816C>T" "" "likely benign" "" "0000562692" "0" "30" "17" "62041176" "62041176" "subst" "0.000558835" "01804" "SCN4A_000207" "g.62041176C>T" "" "" "" "SCN4A(NM_000334.4):c.1462G>A (p.A488T, p.(Ala488Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63963816C>T" "" "likely benign" "" "0000562693" "0" "30" "17" "62041189" "62041189" "subst" "0.000455958" "01804" "SCN4A_000208" "g.62041189T>C" "" "" "" "SCN4A(NM_000334.4):c.1453-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63963829T>C" "" "likely benign" "" "0000562694" "0" "30" "17" "62043834" "62043834" "subst" "0.00251846" "01804" "SCN4A_000011" "g.62043834C>T" "" "" "" "SCN4A(NM_000334.4):c.1100+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63966474C>T" "" "likely benign" "" "0000562697" "0" "50" "17" "62045462" "62045462" "subst" "0" "01804" "SCN4A_000211" "g.62045462A>C" "" "" "" "SCN4A(NM_000334.4):c.957T>G (p.(Tyr319Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63968102A>C" "" "VUS" "" "0000562699" "0" "50" "17" "62048546" "62048546" "subst" "0" "02327" "SCN4A_000213" "g.62048546G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63971186G>A" "" "VUS" "" "0000562702" "0" "30" "17" "62049749" "62049749" "subst" "0.00240883" "02327" "SCN4A_000001" "g.62049749C>T" "" "" "" "SCN4A(NM_000334.4):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63972389C>T" "" "likely benign" "" "0000562703" "0" "50" "17" "62049790" "62049790" "subst" "0" "01804" "SCN4A_000216" "g.62049790A>G" "" "" "" "SCN4A(NM_000334.4):c.314T>C (p.(Phe105Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63972430A>G" "" "VUS" "" "0000562704" "0" "30" "17" "62049961" "62049961" "subst" "0.00107432" "01804" "SCN4A_000217" "g.62049961C>G" "" "" "" "SCN4A(NM_000334.4):c.241G>C (p.(Glu81Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63972601C>G" "" "likely benign" "" "0000562705" "0" "30" "17" "62050110" "62050110" "subst" "0.00116236" "01804" "SCN4A_000218" "g.62050110C>A" "" "" "" "SCN4A(NM_000334.4):c.92G>T (p.(Arg31Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63972750C>A" "" "likely benign" "" "0000577982" "0" "50" "17" "62022901" "62022901" "subst" "0" "01164" "SCN4A_000193" "g.62022901T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63945541T>C" "" "VUS" "ACMG" "0000598529" "0" "50" "17" "62041926" "62041926" "subst" "8.94113E-5" "03451" "SCN4A_000219" "g.62041926C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "rs372631097" "0" "" "" "g.63964566C>T" "" "VUS" "" "0000616756" "0" "70" "17" "62019330" "62019330" "subst" "0" "01804" "SCN4A_000220" "g.62019330G>A" "" "" "" "SCN4A(NM_000334.4):c.4312C>T (p.(Gln1438Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63941970G>A" "" "likely pathogenic" "" "0000630866" "0" "70" "17" "62048581" "62048581" "subst" "0" "02153" "SCN4A_000221" "g.62048581A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63971221A>G" "" "likely pathogenic" "" "0000630885" "0" "90" "17" "62048581" "62048581" "subst" "0" "02153" "SCN4A_000221" "g.62048581A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63971221A>G" "" "likely pathogenic" "" "0000630886" "0" "70" "17" "62045703" "62045703" "subst" "0" "02153" "SCN4A_000223" "g.62045703A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63968343A>C" "" "likely pathogenic" "" "0000630887" "0" "70" "17" "62045594" "62045594" "subst" "0" "02153" "SCN4A_000226" "g.62045594G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63968234G>T" "" "likely pathogenic" "" "0000630888" "0" "70" "17" "62041947" "62041947" "subst" "0" "02153" "SCN4A_000225" "g.62041947C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63964587C>A" "" "likely pathogenic" "" "0000630889" "0" "70" "17" "62034822" "62034822" "subst" "0" "02153" "SCN4A_000224" "g.62034822G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63957462G>C" "" "likely pathogenic" "" "0000630890" "0" "70" "17" "62022974" "62022974" "subst" "1.62525E-5" "02153" "SCN4A_000222" "g.62022974C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63945614C>A" "" "likely pathogenic" "" "0000630891" "21" "70" "17" "62022901" "62022901" "subst" "0" "02153" "SCN4A_000227" "g.62022901T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63945541T>A" "" "likely pathogenic" "" "0000630892" "11" "70" "17" "62022055" "62022055" "subst" "0" "02153" "SCN4A_000228" "g.62022055T>C" "" "{PMID:Maggi 2017:28993909}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63944695T>C" "" "likely pathogenic" "" "0000630893" "11" "70" "17" "62022052" "62022052" "subst" "0" "02153" "SCN4A_000229" "g.62022052A>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63944692A>C" "" "likely pathogenic" "" "0000630894" "21" "70" "17" "62022901" "62022901" "subst" "0" "02153" "SCN4A_000227" "g.62022901T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.63945541T>A" "" "likely pathogenic" "" "0000643422" "0" "70" "17" "62022055" "62022055" "subst" "0" "00006" "SCN4A_000228" "g.62022055T>C" "" "{PMID:Maggi 2017:28993909}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63944695T>C" "" "likely pathogenic" "" "0000647207" "0" "70" "17" "62022974" "62022974" "subst" "6.09469E-5" "01164" "SCN4A_000044" "g.62022974C>T" "" "" "" "" "McClatchey et al. 1992. Nat 2: 148; Song et al. 2012. Muscle 46: 914; Yang et al. 1994. Proc 91: 12785" "Germline" "" "rs80338958" "0" "" "" "g.63945614C>T" "" "likely pathogenic" "ACMG" "0000649670" "1" "10" "17" "62016704" "62016704" "subst" "0" "03575" "SCN4A_000230" "g.62016704A>G" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININexm2260687}" "Germline" "" "" "0" "" "" "g.63939344A>G" "" "benign" "" "0000649671" "1" "30" "17" "62028920" "62028920" "subst" "0.00986214" "03575" "SCN4A_000041" "g.62028920C>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs41280102}" "Germline" "" "rs41280102" "0" "" "" "g.63951560C>G" "" "likely benign" "" "0000649672" "1" "30" "17" "62034557" "62034557" "subst" "0.01057" "03575" "SCN4A_000036" "g.62034557C>T" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs62070884}" "Germline" "" "rs62070884" "0" "" "" "g.63957197C>T" "" "likely benign" "" "0000649673" "1" "50" "17" "62038602" "62038602" "subst" "0.00278805" "03575" "SCN4A_000127" "g.62038602T>C" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs187401185}" "Germline" "" "rs187401185" "0" "" "" "g.63961242T>C" "" "VUS" "" "0000653141" "1" "90" "17" "62022974" "62022974" "subst" "6.09469E-5" "03575" "SCN4A_000044" "g.62022974C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80338958}" "Germline" "" "rs80338958" "0" "" "" "g.63945614C>T" "" "pathogenic" "" "0000653404" "0" "50" "17" "62029011" "62029011" "subst" "3.36503E-5" "01164" "SCN4A_000231" "g.62029011C>T" "" "" "" "" "ACMG: BP4,PM2" "Germline" "" "rs886053247" "0" "" "" "g.63951651C>T" "" "VUS" "ACMG" "0000653405" "0" "70" "17" "62038636" "62038636" "subst" "0" "01164" "SCN4A_000128" "g.62038636T>C" "" "" "" "" "ACMG: PS3,PM2,PP3" "Germline" "" "" "0" "" "" "g.63961276T>C" "" "likely pathogenic" "ACMG" "0000653440" "0" "70" "17" "62022068" "62022068" "subst" "0" "01164" "SCN4A_000048" "g.62022068C>T" "" "" "" "" "ACMG: PS3,PM2,PP1; Koch et al. 1995. Neuroreport 6: 2001; Green et al. 1998. Journal of Physiology 510: 685; Magot et al. 2014. BMJ Case Rep 2014: 1; Chung et al. 2016. J Clin Neurol 12: 509" "Germline" "" "rs121908551" "0" "" "" "g.63944708C>T" "" "likely pathogenic" "ACMG" "0000658231" "0" "30" "17" "62049575" "62049575" "subst" "0.000798996" "02326" "SCN4A_000234" "g.62049575T>G" "" "" "" "SCN4A(NM_000334.4):c.403A>C (p.M135L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63972215T>G" "" "likely benign" "" "0000659566" "0" "90" "17" "62034822" "62034822" "subst" "0" "01164" "SCN4A_000224" "g.62034822G>C" "" "" "" "" "ACMG: PS3,PM1,PM2,PP1,PP3; Fan et al. 2017. Clin Genet 91: 859-67" "Germline" "" "" "0" "" "" "g.63957462G>C" "" "pathogenic" "ACMG" "0000659706" "0" "90" "17" "62036629" "62036629" "subst" "1.22577E-5" "01164" "SCN4A_000023" "g.62036629C>T" "" "" "" "" "ACMG grading: PS3,PM1,PM2,PM5,PP1; Jurkat-Rott et al. 2000. Proc Natl Acad Sci USA 97: 9549; Struyk et al. 2008. J Gen Physiol 132: 447; Jurkat-Rott et al. 2009. Proc Natl Acad Sci USA 106: 4036; Ke et al. 2013. Muscle Nerve 47: 41" "Germline" "" "rs80338788" "0" "" "" "g.63959269C>T" "" "pathogenic" "ACMG" "0000659788" "0" "90" "17" "62021206" "62021206" "subst" "0" "01164" "SCN4A_000050" "g.62021206C>T" "" "" "" "" "ACMG grading: PS3,PM2,PM5,PM6; Lerche et al. 1993. J Physiol 470: 13; Lion-Francois et al. 2010. Neurology 75: 641" "Germline" "" "rs80338792" "0" "" "" "g.63943846C>T" "" "pathogenic" "ACMG" "0000660269" "0" "90" "17" "62034787" "62034787" "subst" "0" "01164" "SCN4A_000033" "g.62034787G>A" "" "" "" "" "age at diagnosis: 10y; Bendahhou et al. 1999. J Neurosci 19: 4762; Brancati et al. 2003. J Neurol Neurosurg Psychiatry 74: 1339; Lee et al. 2015. J Clin Neurol 0: 0" "Germline" "" "rs80338957" "0" "" "" "g.63957427G>A" "" "pathogenic" "" "0000664828" "0" "50" "17" "62022737" "62022737" "subst" "4.07894E-6" "01164" "SCN4A_000235" "g.62022737G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63945377G>A" "" "VUS" "" "0000669411" "3" "10" "17" "62045555" "62045555" "subst" "0.0287581" "03575" "SCN4A_000009" "g.62045555G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs7218917}" "Germline" "" "rs7218917" "0" "" "" "g.63968195G>A" "" "benign" "" "0000674729" "0" "90" "17" "62024422" "62024422" "subst" "0" "01164" "SCN4A_000236" "g.62024422G>A" "" "" "" "" "ACMG grading: PVS1,PM2,PM3,PP1\r\nmyopathy at age 78y" "Germline" "" "rs912001256" "0" "" "" "" "" "pathogenic" "ACMG" "0000675159" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "01164" "SCN4A_000052" "g.62021206C>A" "" "McClatchey et al. 1992. Cell 68: 769; Yang et al. 2017. Channels 11: 55" "" "" "ACMG grading: PS3,PM1,PM2,PM5,PP1,PP3,PP5" "Germline" "" "rs80338792" "0" "" "" "" "" "pathogenic" "ACMG" "0000675304" "1" "50" "17" "62034632" "62034632" "subst" "4.06111E-6" "00534" "SCN4A_000242" "g.62034632G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.63957272G>A" "" "VUS" "ACMG" "0000675354" "2" "50" "17" "62019209" "62019209" "subst" "1.21829E-5" "00534" "SCN4A_000239" "g.62019209G>A" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.63941849G>A" "" "VUS" "ACMG" "0000680971" "0" "50" "17" "62018424" "62018424" "subst" "5.28077E-5" "02327" "SCN4A_000237" "g.62018424G>A" "" "" "" "SCN4A(NM_000334.4):c.5218C>T (p.R1740W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680972" "0" "30" "17" "62018952" "62018952" "subst" "0.00162508" "02326" "SCN4A_000238" "g.62018952C>T" "" "" "" "SCN4A(NM_000334.4):c.4690G>A (p.(Val1564Ile), p.V1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680973" "0" "50" "17" "62019291" "62019291" "subst" "1.22886E-5" "02327" "SCN4A_000240" "g.62019291G>A" "" "" "" "SCN4A(NM_000334.4):c.4351C>T (p.(Arg1451Cys), p.R1451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692433" "0" "50" "17" "62020194" "62020194" "subst" "0" "01943" "SCN4A_000243" "g.62020194G>A" "" "" "" "SCN4A(NM_000334.4):c.4280C>T (p.S1427F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697704" "0" "70" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "likely pathogenic" "" "0000697705" "0" "70" "17" "62022052" "62022052" "subst" "0" "00006" "SCN4A_000229" "g.62022052A>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.63944692A>C" "" "likely pathogenic" "" "0000697706" "0" "70" "17" "62034787" "62034787" "subst" "0" "00006" "SCN4A_000033" "g.62034787G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.63957427G>A" "" "likely pathogenic" "" "0000697707" "0" "70" "17" "62049196" "62049196" "subst" "0" "00006" "SCN4A_000244" "g.62049196C>T" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.63971836C>T" "" "likely pathogenic" "" "0000697708" "0" "70" "17" "62049740" "62049740" "subst" "5.6881E-5" "00006" "SCN4A_000245" "g.62049740G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.63972380G>A" "" "likely pathogenic" "" "0000699415" "1" "90" "17" "62049793" "62049793" "subst" "4.06266E-6" "00006" "SCN4A_000249" "g.62049793C>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "g.63972433C>T" "" "pathogenic (recessive)" "" "0000699416" "1" "90" "17" "62048552" "62048552" "subst" "0" "00006" "SCN4A_000181" "g.62048552G>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "g.63971192G>A" "" "pathogenic (recessive)" "" "0000699417" "1" "90" "17" "62041872" "62041872" "subst" "4.06164E-6" "00006" "SCN4A_000178" "g.62041872G>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "" "" "0" "" "" "g.63964512G>A" "" "pathogenic (recessive)" "" "0000699418" "21" "90" "17" "62025363" "62025363" "subst" "1.21903E-5" "00006" "SCN4A_000155" "g.62025363C>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948003C>T" "" "pathogenic (recessive)" "" "0000699419" "21" "90" "17" "62025363" "62025363" "subst" "1.21903E-5" "00006" "SCN4A_000155" "g.62025363C>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948003C>T" "" "pathogenic (recessive)" "" "0000699420" "3" "90" "17" "62043560" "62043560" "subst" "0" "00006" "SCN4A_000179" "g.62043560G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63966200G>T" "" "pathogenic (recessive)" "" "0000699421" "3" "90" "17" "62043560" "62043560" "subst" "0" "00006" "SCN4A_000179" "g.62043560G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63966200G>T" "" "pathogenic (recessive)" "" "0000699422" "3" "90" "17" "62043560" "62043560" "subst" "0" "00006" "SCN4A_000179" "g.62043560G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63966200G>T" "" "pathogenic (recessive)" "" "0000699423" "2" "90" "17" "62049085" "62049085" "subst" "0" "00006" "SCN4A_000248" "g.62049085A>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63971725A>T" "" "pathogenic (recessive)" "" "0000699424" "2" "90" "17" "62049085" "62049085" "subst" "0" "00006" "SCN4A_000248" "g.62049085A>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63971725A>T" "" "pathogenic (recessive)" "" "0000699425" "2" "90" "17" "62049085" "62049085" "subst" "0" "00006" "SCN4A_000248" "g.62049085A>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63971725A>T" "" "pathogenic (recessive)" "" "0000699426" "2" "90" "17" "62024443" "62024443" "subst" "8.15534E-6" "00006" "SCN4A_000247" "g.62024443G>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63947083G>A" "" "pathogenic (recessive)" "" "0000699427" "2" "90" "17" "62022814" "62022814" "subst" "0" "00006" "SCN4A_000175" "g.62022814C>A" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63945454C>A" "" "pathogenic (recessive)" "" "0000699428" "2" "90" "17" "62018297" "62018297" "dup" "0" "00006" "SCN4A_000167" "g.62018297dup" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63940937dup" "" "pathogenic (recessive)" "" "0000699429" "11" "90" "17" "62025425" "62025425" "subst" "0" "00006" "SCN4A_000154" "g.62025425T>G" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948065T>G" "" "pathogenic (recessive)" "" "0000699430" "11" "90" "17" "62025425" "62025425" "subst" "0" "00006" "SCN4A_000154" "g.62025425T>G" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63948065T>G" "" "pathogenic (recessive)" "" "0000699431" "2" "90" "17" "62018863" "62018863" "subst" "0" "00006" "SCN4A_000246" "g.62018863G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63941503G>T" "" "pathogenic (recessive)" "" "0000699432" "2" "90" "17" "62018863" "62018863" "subst" "0" "00006" "SCN4A_000246" "g.62018863G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63941503G>T" "" "pathogenic (recessive)" "" "0000699433" "2" "90" "17" "62018863" "62018863" "subst" "0" "00006" "SCN4A_000246" "g.62018863G>T" "" "{PMID:Zaharieva 2016:26700687}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63941503G>T" "" "pathogenic (recessive)" "" "0000714879" "0" "50" "17" "62045632" "62045632" "subst" "1.22408E-5" "01164" "SCN4A_000250" "g.62045632C>T" "" "" "" "" "ACMG: PM1, PM2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000714966" "0" "90" "17" "62021206" "62021206" "subst" "0" "03996" "SCN4A_000050" "g.62021206C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "rs80338792" "0" "" "" "g.63943846C>T" "" "pathogenic" "ACMG" "0000726609" "0" "50" "17" "62018424" "62018424" "subst" "5.28077E-5" "02329" "SCN4A_000237" "g.62018424G>A" "" "" "" "SCN4A(NM_000334.4):c.5218C>T (p.R1740W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726610" "0" "70" "17" "62019291" "62019291" "subst" "1.22886E-5" "02329" "SCN4A_000240" "g.62019291G>A" "" "" "" "SCN4A(NM_000334.4):c.4351C>T (p.(Arg1451Cys), p.R1451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726612" "0" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "02329" "SCN4A_000052" "g.62021206C>A" "" "" "" "SCN4A(NM_000334.4):c.3917G>T (p.G1306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726613" "0" "50" "17" "62025979" "62025979" "subst" "8.55781E-5" "01943" "SCN4A_000252" "g.62025979C>A" "" "" "" "SCN4A(NM_000334.4):c.3136G>T (p.G1046W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726614" "0" "50" "17" "62028835" "62028835" "subst" "2.03351E-5" "02329" "SCN4A_000199" "g.62028835C>G" "" "" "" "SCN4A(NM_000334.4):c.2802G>C (p.E934D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726615" "0" "50" "17" "62034569" "62034569" "subst" "0" "02329" "SCN4A_000253" "g.62034569T>A" "" "" "" "SCN4A(NM_000334.4):c.2329A>T (p.M777L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726616" "0" "50" "17" "62041176" "62041176" "subst" "0.000558835" "02329" "SCN4A_000207" "g.62041176C>T" "" "" "" "SCN4A(NM_000334.4):c.1462G>A (p.A488T, p.(Ala488Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726617" "0" "30" "17" "62045451" "62045451" "subst" "0.00864289" "01804" "SCN4A_000010" "g.62045451G>A" "" "" "" "SCN4A(NM_000334.4):c.968C>T (p.T323M, p.(Thr323Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726618" "0" "50" "17" "62049215" "62049215" "subst" "0.000167213" "01943" "SCN4A_000254" "g.62049215G>C" "" "" "" "SCN4A(NM_000334.4):c.483-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726619" "0" "30" "17" "62049749" "62049749" "subst" "0.00240883" "02326" "SCN4A_000001" "g.62049749C>T" "" "" "" "SCN4A(NM_000334.4):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787385" "3" "50" "17" "62026111" "62026111" "subst" "0.000329921" "00006" "SCN4A_000256" "g.62026111A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs544082594" "0" "" "" "g.63948751A>G" "" "VUS" "" "0000787599" "0" "50" "17" "62018922" "62018922" "subst" "0" "00000" "SCN4A_000255" "g.62018922C>T" "" "0" "" "" "" "Germline" "" "rs369437369" "0" "" "" "g.63941562C>T" "" "VUS" "" "0000791110" "0" "70" "17" "62018529" "62018529" "subst" "0" "01164" "SCN4A_000257" "g.62018529A>T" "" "PMID: 15774523, 22914841, 15774523, 24324661, 18690054" "" "" "ACMG: PS3_MOD, PS4_MOD, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "VCV000420020.8" "likely pathogenic (dominant)" "ACMG" "0000808204" "0" "50" "17" "62018931" "62018931" "subst" "8.93452E-5" "01804" "SCN4A_000083" "g.62018931G>A" "" "" "" "SCN4A(NM_000334.4):c.4711C>T (p.(Pro1571Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808205" "0" "50" "17" "62019255" "62019255" "subst" "4.06464E-6" "02327" "SCN4A_000258" "g.62019255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808206" "0" "30" "17" "62022710" "62022710" "subst" "0.0228316" "01804" "SCN4A_000107" "g.62022710T>C" "" "" "" "SCN4A(NM_000334.4):c.3720+10A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808207" "0" "30" "17" "62029126" "62029126" "subst" "0" "01943" "SCN4A_000259" "g.62029126C>T" "" "" "" "SCN4A(NM_000334.4):c.2511G>A (p.K837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808208" "0" "30" "17" "62043834" "62043834" "subst" "0.00251846" "02326" "SCN4A_000011" "g.62043834C>T" "" "" "" "SCN4A(NM_000334.4):c.1100+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808209" "0" "30" "17" "62045467" "62045467" "subst" "0.000625386" "02326" "SCN4A_000180" "g.62045467A>G" "" "" "" "SCN4A(NM_000334.4):c.952T>C (p.W318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808210" "0" "30" "17" "62049215" "62049215" "subst" "0.00077754" "02326" "SCN4A_000215" "g.62049215G>T" "" "" "" "SCN4A(NM_000334.4):c.483-5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818605" "0" "70" "17" "62041982" "62041982" "subst" "0" "01164" "SCN4A_000260" "g.62041982A>C" "" "" "" "" "ACMG: PS4_SUP, PM2_SUP, PP1, PP3; positive segregation in affected daughter" "Germline" "yes" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000829257" "0" "50" "17" "62034619" "62034619" "subst" "0" "00006" "SCN4A_000261" "g.62034619C>T" "" "{PMID:Fichna 2018:29970176}, {PMID:Macias 2021:34720847}" "" "" "" "Germline" "" "" "0" "" "" "g.63957259C>T" "" "VUS" "" "0000833130" "3" "70" "17" "62022147" "62022147" "subst" "0" "00006" "SCN4A_000262" "g.62022147C>G" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.63944787C>G" "" "likely pathogenic" "" "0000855054" "0" "50" "17" "62018151" "62018151" "subst" "0" "02327" "SCN4A_000263" "g.62018151C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855055" "0" "50" "17" "62022041" "62022043" "del" "0" "02327" "SCN4A_000264" "g.62022041_62022043del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855056" "0" "50" "17" "62029074" "62029074" "subst" "0.00017946" "02327" "SCN4A_000267" "g.62029074T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855057" "0" "10" "17" "62038535" "62038535" "subst" "0" "01804" "SCN4A_000268" "g.62038535T>A" "" "" "" "SCN4A(NM_000334.4):c.1845+18A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855058" "0" "30" "17" "62038602" "62038602" "subst" "0.00278805" "02327" "SCN4A_000127" "g.62038602T>C" "" "" "" "SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855059" "0" "30" "17" "62045451" "62045451" "subst" "0.00864289" "02326" "SCN4A_000010" "g.62045451G>A" "" "" "" "SCN4A(NM_000334.4):c.968C>T (p.T323M, p.(Thr323Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855060" "0" "30" "17" "62049215" "62049215" "subst" "0.00077754" "01804" "SCN4A_000215" "g.62049215G>T" "" "" "" "SCN4A(NM_000334.4):c.483-5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865434" "0" "50" "17" "62022110" "62022110" "subst" "2.84852E-5" "02325" "SCN4A_000191" "g.62022110T>C" "" "" "" "SCN4A(NM_000334.4):c.3835A>G (p.I1279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865435" "0" "30" "17" "62022382" "62022382" "subst" "0.0195086" "01804" "SCN4A_000047" "g.62022382G>A" "" "" "" "SCN4A(NM_000334.4):c.3759C>T (p.(Ala1253=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865436" "0" "10" "17" "62022711" "62022711" "subst" "0.001787" "01804" "SCN4A_000265" "g.62022711C>A" "" "" "" "SCN4A(NM_000334.4):c.3720+9G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865437" "0" "70" "17" "62024442" "62024442" "subst" "0" "02327" "SCN4A_000266" "g.62024442C>T" "" "" "" "SCN4A(NM_000334.4):c.3404G>A (p.(Arg1135His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865438" "0" "30" "17" "62038602" "62038602" "subst" "0.00278805" "01804" "SCN4A_000127" "g.62038602T>C" "" "" "" "SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865439" "0" "30" "17" "62049219" "62049219" "subst" "0.000487677" "02326" "SCN4A_000269" "g.62049219G>A" "" "" "" "SCN4A(NM_000334.4):c.483-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865440" "0" "50" "17" "62050057" "62050057" "subst" "0.000105822" "02325" "SCN4A_000270" "g.62050057C>T" "" "" "" "SCN4A(NM_000334.4):c.145G>A (p.(Glu49Lys), p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870227" "10" "70" "17" "62022040" "62022040" "subst" "0" "02153" "SCN4A_000271" "g.62022040T>C" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "ACMG PM1, PM2, PP1, PP2, PP3" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000870647" "1" "90" "17" "62048581" "62048581" "subst" "0" "00006" "SCN4A_000221" "g.62048581A>G" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63971221A>G" "" "pathogenic" "" "0000870648" "1" "90" "17" "62034803" "62034803" "subst" "0" "00006" "SCN4A_000274" "g.62034803C>T" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63957443C>T" "" "pathogenic" "" "0000870649" "1" "90" "17" "62029027" "62029044" "dup" "0" "00006" "SCN4A_000273" "g.(62029027_62029044dup)" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "2616_2617ins18 (E872_T873insAGEAGE)" "" "Germline" "" "" "0" "" "" "g.(63951667_63951684dup)" "" "pathogenic" "" "0000870650" "1" "90" "17" "62022068" "62022068" "subst" "0" "00006" "SCN4A_000048" "g.62022068C>T" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic" "" "0000870651" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000870652" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic" "" "0000870653" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000052" "g.62021206C>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63943846C>A" "" "pathogenic" "" "0000870654" "1" "90" "17" "62021185" "62021185" "subst" "0" "00006" "SCN4A_000055" "g.62021185G>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000870655" "1" "90" "17" "62021185" "62021185" "subst" "0" "00006" "SCN4A_000055" "g.62021185G>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "" "0000870656" "1" "90" "17" "62019299" "62019299" "subst" "0" "00006" "SCN4A_000072" "g.62019299C>T" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941939C>T" "" "pathogenic" "" "0000870657" "1" "90" "17" "62019300" "62019300" "subst" "0" "00006" "SCN4A_000071" "g.62019300G>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941940G>A" "" "pathogenic" "" "0000870658" "1" "90" "17" "62019264" "62019264" "subst" "2.03366E-5" "00006" "SCN4A_000188" "g.62019264G>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941904G>A" "" "pathogenic" "" "0000870659" "1" "90" "17" "62018877" "62018877" "subst" "0" "00006" "SCN4A_000084" "g.62018877C>T" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941517C>T" "" "pathogenic" "" "0000870660" "1" "90" "17" "62018868" "62018868" "subst" "0" "00006" "SCN4A_000085" "g.62018868T>C" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941508T>C" "" "pathogenic" "" "0000870661" "1" "90" "17" "62018859" "62018859" "subst" "0" "00006" "SCN4A_000272" "g.62018859C>A" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941499C>A" "" "pathogenic" "" "0000870680" "1" "90" "17" "62019123" "62019123" "subst" "4.06055E-5" "00006" "SCN4A_000171" "g.62019123C>T" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "" "Germline" "" "" "0" "" "" "g.63941763C>T" "" "pathogenic" "" "0000870681" "1" "90" "17" "62029027" "62029044" "dup" "0" "00006" "SCN4A_000273" "g.(62029027_62029044dup)" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "2616_2617ins18 (E872_T873insAGEAGE)" "" "Germline" "" "" "0" "" "" "g.(63951667_63951684dup)" "" "pathogenic" "" "0000872013" "1" "90" "17" "62021185" "62021185" "subst" "0" "00006" "SCN4A_000055" "g.62021185G>A" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PS3, PS4, PM2, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.63943825G>A" "" "pathogenic" "ACMG" "0000872029" "1" "90" "17" "62034820" "62034820" "subst" "0" "00006" "SCN4A_000031" "g.62034820A>G" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PS3, PS4_mod, PM2, PP1, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.63957460A>G" "" "pathogenic" "ACMG" "0000881157" "0" "90" "17" "62034787" "62034787" "subst" "0" "02300" "SCN4A_000033" "g.62034787G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM2, PP1, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs80338957" "0" "" "" "g.63957427G>A" "" "pathogenic (dominant)" "ACMG" "0000894172" "0" "10" "17" "62018164" "62018164" "subst" "0.0424699" "02327" "SCN4A_000090" "g.62018164A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894173" "0" "30" "17" "62018239" "62018239" "subst" "0.0310295" "01804" "SCN4A_000089" "g.62018239G>A" "" "" "" "SCN4A(NM_000334.4):c.5403C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894174" "0" "30" "17" "62018952" "62018952" "subst" "0.00162508" "01804" "SCN4A_000238" "g.62018952C>T" "" "" "" "SCN4A(NM_000334.4):c.4690G>A (p.(Val1564Ile), p.V1564I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894175" "0" "50" "17" "62019033" "62019033" "subst" "6.90372E-5" "02329" "SCN4A_000275" "g.62019033C>T" "" "" "" "SCN4A(NM_000334.4):c.4609G>A (p.(Gly1537Ser), p.G1537S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894176" "0" "10" "17" "62020176" "62020176" "subst" "0.00744109" "01804" "SCN4A_000064" "g.62020176C>A" "" "" "" "SCN4A(NM_000334.4):c.4288+10G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894177" "0" "90" "17" "62024442" "62024442" "subst" "0" "01804" "SCN4A_000266" "g.62024442C>T" "" "" "" "SCN4A(NM_000334.4):c.3404G>A (p.(Arg1135His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894178" "0" "30" "17" "62024486" "62024486" "subst" "0.000252371" "01804" "SCN4A_000276" "g.62024486C>T" "" "" "" "SCN4A(NM_000334.4):c.3360G>A (p.(Ser1120=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894179" "0" "10" "17" "62026748" "62026748" "subst" "0.00410087" "01804" "SCN4A_000277" "g.62026748C>T" "" "" "" "SCN4A(NM_000334.4):c.2989+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894180" "0" "10" "17" "62026823" "62026823" "subst" "0.00820468" "01804" "SCN4A_000278" "g.62026823G>A" "" "" "" "SCN4A(NM_000334.4):c.2919C>T (p.(Pro973=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894181" "0" "10" "17" "62029006" "62029006" "subst" "0.0348807" "01804" "SCN4A_000039" "g.62029006A>G" "" "" "" "SCN4A(NM_000334.4):c.2631T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894182" "0" "90" "17" "62034875" "62034875" "subst" "1.24556E-5" "01804" "SCN4A_000279" "g.62034875G>A" "" "" "" "SCN4A(NM_000334.4):c.2023C>T (p.(Arg675Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894183" "0" "30" "17" "62038602" "62038602" "subst" "0.00278805" "02326" "SCN4A_000127" "g.62038602T>C" "" "" "" "SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894184" "0" "10" "17" "62038745" "62038745" "subst" "0.000435579" "01804" "SCN4A_000280" "g.62038745G>A" "" "" "" "SCN4A(NM_000334.4):c.1653C>T (p.(Cys551=), p.C551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894185" "0" "30" "17" "62041012" "62041012" "subst" "0.00307578" "02326" "SCN4A_000129" "g.62041012C>T" "" "" "" "SCN4A(NM_000334.4):c.1606+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894186" "0" "30" "17" "62041867" "62041867" "subst" "0.000617394" "02325" "SCN4A_000161" "g.62041867C>T" "" "" "" "SCN4A(NM_000334.4):c.1413G>A (p.M471I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894187" "0" "10" "17" "62045451" "62045451" "subst" "0.00864289" "01943" "SCN4A_000010" "g.62045451G>A" "" "" "" "SCN4A(NM_000334.4):c.968C>T (p.T323M, p.(Thr323Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894188" "0" "10" "17" "62045555" "62045555" "subst" "0.0287581" "01804" "SCN4A_000009" "g.62045555G>A" "" "" "" "SCN4A(NM_000334.4):c.864C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894189" "0" "70" "17" "62045670" "62045670" "subst" "0" "02327" "SCN4A_000007" "g.62045670A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894190" "0" "10" "17" "62049575" "62049575" "subst" "0.000798996" "01943" "SCN4A_000234" "g.62049575T>G" "" "" "" "SCN4A(NM_000334.4):c.403A>C (p.M135L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894191" "0" "10" "17" "62049738" "62049738" "subst" "0.0472854" "01804" "SCN4A_000002" "g.62049738G>A" "" "" "" "SCN4A(NM_000334.4):c.366C>T (p.(Arg122=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894192" "0" "50" "17" "62049740" "62049740" "subst" "5.6881E-5" "02325" "SCN4A_000245" "g.62049740G>A" "" "" "" "SCN4A(NM_000334.4):c.364C>T (p.(Arg122Cys), p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000900560" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900561" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900562" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900563" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900564" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900565" "1" "90" "17" "62022968" "62022968" "subst" "0" "00006" "SCN4A_000045" "g.62022968G>A" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Pro1158Ser" "" "Germline" "" "" "0" "" "" "g.63945608G>A" "" "pathogenic (dominant)" "" "0000900566" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Gly1306Ala" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic (dominant)" "" "0000900567" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Gly1306Ala" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic (dominant)" "" "0000900568" "1" "90" "17" "62022068" "62022068" "subst" "0" "00006" "SCN4A_000048" "g.62022068C>T" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Val1293Ile" "" "Germline" "" "" "0" "" "" "g.63944708C>T" "" "pathogenic (dominant)" "" "0000900569" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Gly1306Ala" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic (dominant)" "" "0000900570" "1" "90" "17" "62021206" "62021206" "subst" "4.06577E-6" "00006" "SCN4A_000051" "g.62021206C>G" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Gly1306Ala" "" "Germline" "" "" "0" "" "" "g.63943846C>G" "" "pathogenic (dominant)" "" "0000900571" "1" "90" "17" "62041947" "62041947" "subst" "4.06805E-6" "00006" "SCN4A_000015" "g.62041947C>T" "" "{PMID:Modoni 2011:21221019}, {DOI:Modoni 2011:10.1097/WNP.0b013e31820510d7}" "" "p.Val445Met" "" "Germline" "" "" "0" "" "" "g.63964587C>T" "" "pathogenic (dominant)" "" "0000914947" "0" "70" "17" "62020376" "62020376" "subst" "0" "01804" "SCN4A_000281" "g.62020376G>T" "" "" "" "SCN4A(NM_000334.4):c.4098C>A (p.(Asn1366Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914948" "0" "90" "17" "62022974" "62022974" "subst" "6.09469E-5" "01804" "SCN4A_000044" "g.62022974C>T" "" "" "" "SCN4A(NM_000334.4):c.3466G>A (p.(Ala1156Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914949" "0" "10" "17" "62028920" "62028920" "subst" "0.00986214" "01804" "SCN4A_000041" "g.62028920C>G" "" "" "" "SCN4A(NM_000334.4):c.2717G>C (p.(Ser906Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914950" "0" "70" "17" "62034755" "62034755" "subst" "0" "01804" "SCN4A_000282" "g.62034755C>G" "" "" "" "SCN4A(NM_000334.4):c.2143G>C (p.(Ala715Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914951" "0" "90" "17" "62034787" "62034787" "subst" "0" "02329" "SCN4A_000033" "g.62034787G>A" "" "" "" "SCN4A(NM_000334.4):c.2111C>T (p.T704M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914952" "0" "50" "17" "62038768" "62038768" "subst" "0" "01804" "SCN4A_000283" "g.62038768A>G" "" "" "" "SCN4A(NM_000334.4):c.1630T>C (p.(Cys544Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920840" "0" "90" "17" "62038557" "62038557" "subst" "0" "04482" "SCN4A_000285" "g.62038557T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63961197T>A" "" "likely pathogenic" "" "0000920841" "0" "90" "17" "62019222" "62019222" "subst" "2.84285E-5" "04482" "SCN4A_000284" "g.62019222C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63941862C>T" "" "likely pathogenic" "" "0000926625" "0" "30" "17" "62026784" "62026784" "subst" "2.78489E-5" "01804" "SCN4A_000286" "g.62026784C>T" "" "" "" "SCN4A(NM_000334.4):c.2958G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926626" "0" "30" "17" "62034558" "62034558" "subst" "0.000122726" "01804" "SCN4A_000287" "g.62034558G>A" "" "" "" "SCN4A(NM_000334.4):c.2340C>T (p.(Thr780=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927663" "21" "90" "17" "62038623" "62038623" "subst" "0" "02153" "SCN4A_000288" "g.62038623G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "" "0000930872" "0" "90" "17" "62021185" "62021185" "subst" "0" "01804" "SCN4A_000055" "g.62021185G>A" "" "" "" "SCN4A(NM_000334.4):c.3938C>T (p.(Thr1313Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930873" "0" "90" "17" "62022068" "62022068" "subst" "0" "01804" "SCN4A_000048" "g.62022068C>T" "" "" "" "SCN4A(NM_000334.4):c.3877G>A (p.(Val1293Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930874" "0" "70" "17" "62022988" "62022988" "subst" "0" "02327" "SCN4A_000289" "g.62022988T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000946030" "1" "90" "17" "62041872" "62041872" "subst" "4.06164E-6" "00006" "SCN4A_000178" "g.62041872G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.63964512G>A" "" "pathogenic (recessive)" "" "0000946031" "1" "90" "17" "62048552" "62048552" "subst" "0" "00006" "SCN4A_000181" "g.62048552G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.63971192G>A" "" "pathogenic (recessive)" "" "0000946032" "1" "90" "17" "62019278" "62019278" "subst" "8.1491E-6" "00006" "SCN4A_000172" "g.62019278A>G" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.63941918A>G" "" "pathogenic (dominant)" "" "0000946055" "0" "50" "17" "62026022" "62026022" "subst" "4.87821E-5" "00006" "SCN4A_000176" "g.62026022G>C" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome after targeted sequencing; not present in mother, father not tested" "Germline/De novo (untested)" "" "" "0" "" "" "g.63948662G>C" "" "VUS" "" "0000946101" "0" "50" "17" "62019123" "62019123" "subst" "4.06055E-5" "00006" "SCN4A_000171" "g.62019123C>T" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.63941763C>T" "" "VUS" "" "0000946138" "3" "50" "17" "62043560" "62043560" "subst" "0" "00006" "SCN4A_000179" "g.62043560G>T" "" "{PMID:Westra 2019:31127727}" "" "" "SCN4A variant homozygously present in affected sibs; ERBB3 not present in all affected family members" "Germline/De novo (untested)" "" "" "0" "" "" "g.63966200G>T" "" "VUS" "" "0000946172" "2" "90" "17" "62018297" "62018297" "dup" "0" "00006" "SCN4A_000167" "g.62018297dup" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.63940937dup" "" "pathogenic (recessive)" "" "0000946173" "2" "90" "17" "62022814" "62022814" "subst" "0" "00006" "SCN4A_000175" "g.62022814C>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.63945454C>A" "" "pathogenic (recessive)" "" "0000946195" "0" "50" "17" "62019254" "62019254" "subst" "8.12929E-6" "00006" "SCN4A_000076" "g.62019254C>T" "" "{PMID:Westra 2019:31127727}" "" "" "no variant 2nd chromosome; no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.63941894C>T" "" "VUS" "" "0000951015" "0" "50" "17" "62025363" "62025363" "subst" "1.21903E-5" "02327" "SCN4A_000155" "g.62025363C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969161" "0" "30" "17" "62028991" "62028991" "subst" "0.000148623" "02326" "SCN4A_000291" "g.62028991C>T" "" "" "" "SCN4A(NM_000334.4):c.2646G>A (p.P882=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969164" "0" "30" "17" "62038602" "62038602" "subst" "0.00278805" "02325" "SCN4A_000127" "g.62038602T>C" "" "" "" "SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982712" "0" "50" "17" "62018409" "62018409" "subst" "4.4694E-5" "02329" "SCN4A_000292" "g.62018409G>A" "" "" "" "SCN4A(NM_000334.4):c.5233C>T (p.(Arg1745Cys), p.R1745C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982713" "0" "50" "17" "62019134" "62019134" "subst" "0.000125877" "01804" "SCN4A_000293" "g.62019134T>C" "" "" "" "SCN4A(NM_000334.4):c.4508A>G (p.(Asn1503Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982714" "0" "50" "17" "62020306" "62020306" "subst" "3.24852E-5" "01804" "SCN4A_000294" "g.62020306T>A" "" "" "" "SCN4A(NM_000334.4):c.4168A>T (p.(Met1390Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982715" "0" "50" "17" "62022845" "62022845" "subst" "8.12123E-6" "01804" "SCN4A_000295" "g.62022845C>T" "" "" "" "SCN4A(NM_000334.4):c.3595G>A (p.(Asp1199Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982716" "0" "50" "17" "62029027" "62029044" "dup" "0" "01804" "SCN4A_000273" "g.62029027_62029044dup" "" "" "" "SCN4A(NM_000334.4):c.2599_2616dup (p.(Ala867_Glu872dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982717" "0" "50" "17" "62034770" "62034770" "subst" "4.0627E-6" "01804" "SCN4A_000296" "g.62034770T>C" "" "" "" "SCN4A(NM_000334.4):c.2128A>G (p.(Ile710Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982718" "0" "50" "17" "62049219" "62049219" "subst" "6.361E-5" "01804" "SCN4A_000297" "g.62049219G>T" "" "" "" "SCN4A(NM_000334.4):c.483-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982719" "0" "30" "17" "62049574" "62049574" "subst" "0.00112491" "01804" "SCN4A_000163" "g.62049574A>G" "" "" "" "SCN4A(NM_000334.4):c.404T>C (p.(Met135Thr), p.M135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982720" "0" "30" "17" "62050150" "62050150" "subst" "0.000265482" "01804" "SCN4A_000298" "g.62050150G>A" "" "" "" "SCN4A(NM_000334.4):c.52C>T (p.(Arg18Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989360" "0" "90" "17" "62019254" "62019254" "subst" "8.12929E-6" "03779" "SCN4A_000076" "g.62019254C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs771340029" "0" "" "" "" "" "pathogenic" "" "0001003559" "0" "50" "17" "62018409" "62018409" "subst" "4.4694E-5" "01804" "SCN4A_000292" "g.62018409G>A" "" "" "" "SCN4A(NM_000334.4):c.5233C>T (p.(Arg1745Cys), p.R1745C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003560" "0" "50" "17" "62019252" "62019252" "subst" "0" "01804" "SCN4A_000299" "g.62019252C>G" "" "" "" "SCN4A(NM_000334.4):c.4390G>C (p.(Gly1464Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003561" "0" "50" "17" "62019290" "62019290" "subst" "0" "02327" "SCN4A_000300" "g.62019290C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003562" "0" "50" "17" "62020273" "62020273" "subst" "0.000251783" "01804" "SCN4A_000301" "g.62020273C>T" "" "" "" "SCN4A(NM_000334.4):c.4201G>A (p.(Val1401Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003563" "0" "50" "17" "62021137" "62021137" "subst" "3.25309E-5" "01804" "SCN4A_000302" "g.62021137T>C" "" "" "" "SCN4A(NM_000334.4):c.3986A>G (p.(Lys1329Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003564" "0" "50" "17" "62021197" "62021197" "subst" "0" "01804" "SCN4A_000303" "g.62021197T>C" "" "" "" "SCN4A(NM_000334.4):c.3926A>G (p.(Asp1309Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003565" "0" "50" "17" "62022748" "62022748" "subst" "0" "01804" "SCN4A_000304" "g.62022748C>T" "" "" "" "SCN4A(NM_000334.4):c.3692G>A (p.(Gly1231Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003566" "0" "30" "17" "62025392" "62025392" "subst" "3.66673E-5" "01804" "SCN4A_000305" "g.62025392C>T" "" "" "" "SCN4A(NM_000334.4):c.3176G>A (p.(Arg1059Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003567" "0" "30" "17" "62028939" "62028939" "subst" "0" "01804" "SCN4A_000306" "g.62028939C>T" "" "" "" "SCN4A(NM_000334.4):c.2698G>A (p.(Ala900Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003568" "0" "30" "17" "62029199" "62029199" "subst" "0" "01804" "SCN4A_000307" "g.62029199G>A" "" "" "" "SCN4A(NM_000334.4):c.2438C>T (p.(Ser813Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003569" "0" "50" "17" "62029215" "62029215" "subst" "0" "01804" "SCN4A_000308" "g.62029215C>T" "" "" "" "SCN4A(NM_000334.4):c.2422G>A (p.(Asp808Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003570" "0" "50" "17" "62034632" "62034632" "subst" "4.06111E-6" "01804" "SCN4A_000242" "g.62034632G>A" "" "" "" "SCN4A(NM_000334.4):c.2266C>T (p.(Arg756Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003571" "0" "50" "17" "62034767" "62034767" "subst" "8.12546E-6" "01804" "SCN4A_000309" "g.62034767C>T" "" "" "" "SCN4A(NM_000334.4):c.2131G>A (p.(Val711Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003572" "0" "50" "17" "62038590" "62038590" "subst" "8.13742E-6" "01804" "SCN4A_000310" "g.62038590G>C" "" "" "" "SCN4A(NM_000334.4):c.1808C>G (p.(Thr603Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003573" "0" "30" "17" "62041036" "62041036" "subst" "4.43105E-5" "01804" "SCN4A_000311" "g.62041036C>T" "" "" "" "SCN4A(NM_000334.4):c.1602G>A (p.(Met534Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003574" "0" "50" "17" "62048590" "62048590" "subst" "0" "01804" "SCN4A_000312" "g.62048590A>G" "" "" "" "SCN4A(NM_000334.4):c.635T>C (p.(Leu212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003575" "0" "50" "17" "62049124" "62049124" "subst" "0" "01804" "SCN4A_000313" "g.62049124C>T" "" "" "" "SCN4A(NM_000334.4):c.569G>A (p.(Arg190Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011904" "0" "90" "17" "62021206" "62021206" "subst" "0" "00006" "SCN4A_000050" "g.62021206C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.63943846C>T" "VCV000005920.4" "pathogenic" "" "0001015603" "0" "30" "17" "62026893" "62026893" "subst" "0.00100689" "02326" "SCN4A_000314" "g.62026893G>A" "" "" "" "SCN4A(NM_000334.4):c.2854-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027033" "0" "30" "17" "62038745" "62038745" "subst" "0.000435579" "02326" "SCN4A_000280" "g.62038745G>A" "" "" "" "SCN4A(NM_000334.4):c.1653C>T (p.(Cys551=), p.C551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042079" "0" "50" "17" "62018378" "62018378" "subst" "8.13478E-6" "01804" "SCN4A_000315" "g.62018378C>T" "" "" "" "SCN4A(NM_000334.4):c.5264G>A (p.(Arg1755His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042080" "0" "50" "17" "62019033" "62019033" "subst" "6.90372E-5" "01804" "SCN4A_000275" "g.62019033C>T" "" "" "" "SCN4A(NM_000334.4):c.4609G>A (p.(Gly1537Ser), p.G1537S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042081" "0" "50" "17" "62019110" "62019110" "subst" "4.06055E-6" "01804" "SCN4A_000316" "g.62019110G>A" "" "" "" "SCN4A(NM_000334.4):c.4532C>T (p.(Ser1511Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042082" "0" "50" "17" "62019291" "62019291" "subst" "1.22886E-5" "01804" "SCN4A_000240" "g.62019291G>A" "" "" "" "SCN4A(NM_000334.4):c.4351C>T (p.(Arg1451Cys), p.R1451C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042083" "0" "50" "17" "62022752" "62022752" "subst" "4.47806E-5" "01804" "SCN4A_000317" "g.62022752C>T" "" "" "" "SCN4A(NM_000334.4):c.3688G>A (p.(Val1230Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042084" "0" "10" "17" "62034609" "62034609" "subst" "0.0171247" "01804" "SCN4A_000035" "g.62034609G>A" "" "" "" "SCN4A(NM_000334.4):c.2289C>T (p.(Ile763=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042085" "0" "10" "17" "62043537" "62043537" "subst" "0.0220274" "01804" "SCN4A_000012" "g.62043537A>G" "" "" "" "SCN4A(NM_000334.4):c.1167T>C (p.(Tyr389=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042086" "0" "70" "17" "62048533" "62048533" "subst" "0" "01804" "SCN4A_000318" "g.62048533G>A" "" "" "" "SCN4A(NM_000334.4):c.692C>T (p.(Thr231Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042087" "0" "30" "17" "62049204" "62049204" "subst" "0.00987425" "01804" "SCN4A_000106" "g.62049204G>C" "" "" "" "SCN4A(NM_000334.4):c.489C>G (p.(Thr163=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042088" "0" "50" "17" "62049740" "62049740" "subst" "5.6881E-5" "01804" "SCN4A_000245" "g.62049740G>A" "" "" "" "SCN4A(NM_000334.4):c.364C>T (p.(Arg122Cys), p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042089" "0" "50" "17" "62049793" "62049797" "del" "0" "01804" "SCN4A_000319" "g.62049793_62049797del" "" "" "" "SCN4A(NM_000334.4):c.307_311del (p.(Phe103Leufs*48))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042090" "0" "50" "17" "62050149" "62050149" "subst" "8.1646E-6" "01804" "SCN4A_000320" "g.62050149C>T" "" "" "" "SCN4A(NM_000334.4):c.53G>A (p.(Arg18His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046663" "0" "30" "17" "62049998" "62049998" "subst" "0.000116552" "02326" "SCN4A_000321" "g.62049998G>A" "" "" "" "SCN4A(NM_000334.4):c.204C>T (p.Y68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046925" "0" "50" "17" "62050110" "62050110" "subst" "3.67062E-5" "03779" "SCN4A_000322" "g.62050110C>T" "" "" "" "" "" "Unknown" "" "rs112142736" "0" "" "" "" "" "VUS" "" "0001056139" "0" "50" "17" "62041079" "62041079" "subst" "0" "01804" "SCN4A_000323" "g.62041079G>A" "" "" "" "SCN4A(NM_000334.4):c.1559C>T (p.(Pro520Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056140" "0" "50" "17" "62050057" "62050057" "subst" "0.000105822" "01804" "SCN4A_000270" "g.62050057C>T" "" "" "" "SCN4A(NM_000334.4):c.145G>A (p.(Glu49Lys), p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057655" "0" "50" "17" "62050012" "62050012" "subst" "4.10152E-6" "00006" "SCN4A_000325" "g.62050012G>C" "" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.63972652G>C" "" "VUS" "" "0001057656" "0" "90" "17" "62019344" "62019344" "subst" "0" "00006" "SCN4A_000066" "g.62019344A>C" "" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "" "" "ACMG PS4, PP3, PM2, PM1, PP5" "Germline" "" "" "0" "" "" "g.63941984A>C" "" "pathogenic (dominant)" "" "0001057657" "0" "90" "17" "62019318" "62019318" "subst" "1.29213E-5" "00006" "SCN4A_000324" "g.62019318C>T" "" "{PMID:Radziwonik-Fraczyk 2024:38758368}" "" "" "ACMG PM2, PM1, PP3, PM5" "Germline" "" "" "0" "" "" "g.63941958C>T" "" "likely pathogenic (dominant)" "" "0001059124" "0" "70" "17" "62022164" "62022164" "subst" "4.07611E-6" "00006" "SCN4A_000327" "g.62022164C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.63944804C>A" "" "likely pathogenic" "" "0001059125" "0" "70" "17" "62019041" "62019041" "subst" "8.12143E-6" "00006" "SCN4A_000326" "g.62019041G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.63941681G>A" "" "likely pathogenic" "" ## 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 SCN4A ## Count = 1125 "{{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}}" "0000053055" "00018521" "50" "4307" "0" "4307" "0" "c.4307T>C" "r.(?)" "p.(Leu1436Pro)" "24" "0000053056" "00018521" "50" "4379" "0" "4379" "0" "c.4379G>A" "r.(?)" "p.(Arg1460Gln)" "24" "0000053057" "00018521" "50" "4373" "0" "4373" "0" "c.4373T>A" "r.(?)" "p.(Val1458Asp)" "24" "0000053058" "00018521" "50" "4342" "0" "4342" "0" "c.4342C>T" "r.(?)" "p.(Arg1448Cys)" "24" "0000053059" "00018521" "50" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "13" "0000053060" "00018521" "50" "3901" "0" "3903" "0" "c.3901_3903del" "r.(?)" "p.(Gln1301del)" "22" "0000064108" "00018521" "50" "2586" "0" "2586" "0" "c.2586C>T" "r.(=)" "p.(=)" "" "0000064109" "00018521" "50" "5640" "0" "5640" "0" "c.*129G>T" "r.(=)" "p.(=)" "" "0000064110" "00018521" "50" "3453" "0" "3453" "0" "c.3453C>T" "r.(=)" "p.(=)" "" "0000064111" "00018521" "50" "3484" "0" "3484" "0" "c.3484A>G" "r.(?)" "p.(Asn1162Asp)" "" "0000064112" "00018521" "50" "3475" "0" "3475" "0" "c.3475T>C" "r.(?)" "p.(Ser1159Pro)" "" "0000064113" "00018521" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000064114" "00018521" "50" "3319" "-67" "3319" "-67" "c.3319-67C>A" "r.(=)" "p.(=)" "" "0000064115" "00018521" "50" "2596" "0" "2596" "0" "c.2596G>A" "r.(?)" "p.(Glu866Lys)" "" "0000064116" "00018521" "50" "2108" "0" "2108" "0" "c.2108T>C" "r.(?)" "p.(Leu703Pro)" "" "0000064117" "00018521" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Trp)" "" "0000064118" "00018521" "50" "2120" "0" "2120" "0" "c.2120T>C" "r.(?)" "p.(Leu707Pro)" "" "0000064119" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "" "0000064120" "00018521" "10" "392" "25" "392" "25" "c.392+25C>T" "r.(=)" "p.(=)" "" "0000064121" "00018521" "90" "3478" "0" "3478" "0" "c.3478A>G" "r.(?)" "p.(Ile1160Val)" "" "0000064122" "00018521" "50" "612" "-35" "612" "-35" "c.612-35C>G" "r.(=)" "p.(=)" "" "0000064123" "00018521" "90" "2411" "0" "2411" "0" "c.2411C>T" "r.(?)" "p.(Ser804Phe)" "" "0000064124" "00018521" "50" "5790" "0" "5791" "0" "c.*279_*280del" "r.(=)" "p.(=)" "" "0000064125" "00018521" "50" "392" "31" "392" "31" "c.392+31G>C" "r.(=)" "p.(=)" "" "0000064126" "00018521" "50" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Met148Thr)" "" "0000064127" "00018521" "50" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Ile588Val)" "" "0000064128" "00018521" "50" "5102" "0" "5102" "0" "c.5102T>C" "r.(?)" 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"p.(Arg122Arg)" "2" "0000182840" "00018521" "11" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122Arg)" "2" "0000182841" "00018521" "11" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122Arg)" "2" "0000182842" "00018521" "11" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122Arg)" "2" "0000182843" "00018521" "11" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122Arg)" "2" "0000182844" "00018521" "11" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122Arg)" "2" "0000182845" "00018521" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "2" "0000182846" "00018521" "99" "201" "0" "201" "0" "c.201G>C" "r.(?)" "p.(Arg67Pro)" "1" "0000251911" "00018521" "30" "248" "0" "248" "0" "c.248T>C" "r.(?)" "p.(Leu83Pro)" "" "0000251915" "00018521" "30" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Met135Thr)" "" "0000297944" "00018521" "10" "1570" "0" "1570" "0" "c.1570A>G" "r.(?)" "p.(Ser524Gly)" "" "0000301886" "00018521" "10" "1570" "0" "1570" "0" "c.1570A>G" "r.(?)" "p.(Ser524Gly)" "" "0000301887" "00018521" "30" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000301888" "00018521" "30" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(Pro875Ser)" "" "0000301890" "00018521" "30" "2748" "0" "2748" "0" "c.2748C>G" "r.(?)" "p.(Asn916Lys)" "" "0000301891" "00018521" "10" "3441" "7" "3441" "7" "c.3441+7G>A" "r.(=)" "p.(=)" "" "0000301892" "00018521" "30" "3720" "10" "3720" "10" "c.3720+10A>G" "r.(=)" "p.(=)" "" "0000307749" "00018521" "50" "1364" "0" "1364" "0" "c.1364A>C" "r.(?)" "p.(Glu455Ala)" "" "0000307750" "00018521" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Met471Ile)" "" "0000307751" "00018521" "30" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Ala1183=)" "" "0000307752" "00018521" "30" "393" "-6" "393" "-6" "c.393-6C>A" "r.(=)" "p.(=)" "" "0000325556" "00018521" "30" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000325558" "00018521" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Gln40Ter)" "" "0000338525" "00018521" "10" "3720" "10" "3720" "10" "c.3720+10A>G" "r.(=)" "p.(=)" "" "0000338526" "00018521" "10" "3318" "12" "3318" "12" "c.3318+12C>A" "r.(=)" "p.(=)" "" "0000338527" "00018521" "10" "1606" "20" "1606" "20" "c.1606+20G>A" "r.(=)" "p.(=)" "" "0000338528" "00018521" "10" "1100" "7" "1100" "7" "c.1100+7G>A" "r.(=)" "p.(=)" "" "0000340318" "00018521" "10" "4869" "0" "4869" "0" "c.4869A>G" "r.(?)" "p.(Thr1623=)" "" "0000340319" "00018521" "30" "4605" "0" "4605" "0" "c.4605G>A" "r.(?)" "p.(Ser1535=)" "" "0000340320" "00018521" "10" "4539" "0" "4539" "0" "c.4539C>A" "r.(?)" "p.(Ile1513=)" "" "0000340321" "00018521" "10" "3759" "0" "3759" "0" "c.3759C>T" "r.(?)" "p.(Ala1253=)" "" "0000340322" "00018521" "30" "2862" "0" "2862" "0" "c.2862G>A" "r.(?)" "p.(Pro954=)" "" "0000340323" "00018521" "10" "2631" "0" "2631" "0" "c.2631T>C" "r.(?)" "p.(Asp877=)" "" "0000340324" "00018521" "10" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Ile763=)" "" "0000340326" "00018521" "10" "1167" "0" "1167" "0" "c.1167T>C" "r.(?)" "p.(Tyr389=)" "" "0000340327" "00018521" "10" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Asn288=)" "" "0000340330" "00018521" "10" "489" "0" "489" "0" "c.489C>G" "r.(?)" "p.(Thr163=)" "" "0000340331" "00018521" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122=)" "" "0000341108" "00018521" "50" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Ala107Thr)" "" "0000341742" "00018521" "90" "3395" "0" "3395" "0" "c.3395G>A" "r.(?)" "p.(Arg1132Gln)" "" "0000341932" "00018521" "90" "4342" "0" "4342" "0" "c.4342C>T" "r.(?)" "p.(Arg1448Cys)" "" "0000341933" "00018521" "90" "4342" "0" "4342" "0" "c.4342C>A" "r.(?)" "p.(Arg1448Ser)" "" "0000341940" "00018521" "50" "4388" "0" "4388" "0" "c.4388G>A" "r.(?)" "p.(Arg1463His)" "" "0000342311" "00018521" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000343236" "00018521" "90" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0000343550" "00018521" "50" "3093" "0" "3093" "0" "c.3093C>G" "r.(?)" "p.(Asn1031Lys)" "" "0000343596" "00018521" "10" "4126" "0" "4126" "0" "c.4126A>G" "r.(?)" "p.(Asn1376Asp)" "" "0000344249" "00018521" "50" "3626" "0" "3626" "0" "c.3626G>T" "r.(?)" "p.(Cys1209Phe)" "" "0000344854" "00018521" "70" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470Ter)" "" "0000345178" "00018521" "70" "5104" "0" "5104" "0" "c.5104G>C" "r.(?)" "p.(Glu1702Gln)" "" "0000345691" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000345692" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>T" "r.(?)" "p.(Gly1306Val)" "" "0000346569" "00018521" "50" "3872" "0" "3872" "0" "c.3872T>A" "r.(?)" "p.(Ile1291Asn)" "" "0000346581" "00018521" "50" "4364" "0" "4364" "0" "c.4364T>C" "r.(?)" "p.(Ile1455Thr)" "" "0000348145" "00018521" "70" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000348183" "00018521" "50" "4006" "0" "4006" "0" "c.4006C>A" "r.(?)" "p.(Pro1336Thr)" "" "0000348419" "00018521" "70" "1144" "0" "1144" "0" "c.1144C>A" "r.(?)" "p.(Pro382Thr)" "" "0000349076" "00018521" "10" "1570" "0" "1570" "0" "c.1570A>G" "r.(?)" "p.(Ser524Gly)" "" "0000349206" "00018521" "10" "2717" "0" "2717" "0" "c.2717G>C" "r.(?)" "p.(Ser906Thr)" "" "0000349272" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "" "0000349303" "00018521" "50" "4813" "0" "4813" "0" "c.4813A>C" "r.(?)" "p.(Thr1605Pro)" "" "0000349611" "00018521" "90" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" "" "0000349772" "00018521" "30" "952" "0" "952" "0" "c.952T>C" "r.(?)" "p.(Trp318Arg)" "" "0000350297" "00018521" "70" "4372" "0" "4372" "0" "c.4372G>T" "r.(?)" "p.(Val1458Phe)" "" "0000350309" "00018521" "30" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Val1507Ile)" "" "0000350325" "00018521" "70" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "" "0000350543" "00018521" "90" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Met)" "" "0000351311" "00018521" "90" "4774" "0" "4774" "0" "c.4774A>G" "r.(?)" "p.(Met1592Val)" "" "0000439762" "00018521" "70" "3395" "0" "3395" "0" "c.3395G>A" "r.(?)" "p.Arg1132Gln" "" "0000439876" "00018521" "70" "4075" "0" "4076" "0" "c.4075_4076del" "r.(?)" "p.Ile1359Hisfs*61" "" "0000562660" "00018521" "30" "5062" "0" "5062" "0" "c.5062C>T" "r.(?)" "p.(Leu1688=)" "" "0000562661" "00018521" "50" "4949" "0" "4949" "0" "c.4949C>T" "r.(?)" "p.(Pro1650Leu)" "" "0000562662" "00018521" "30" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Val1507Ile)" "" "0000562663" "00018521" "50" "4378" "0" "4378" "0" "c.4378C>T" "r.(?)" "p.(Arg1460Trp)" "" "0000562664" "00018521" "90" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Arg1448His)" "" "0000562665" "00018521" "50" "4223" "0" "4223" "0" "c.4223G>A" "r.(?)" "p.(Arg1408His)" "" "0000562667" "00018521" "50" "3904" "0" "3904" "0" "c.3904A>C" "r.(?)" "p.(Lys1302Gln)" "" "0000562669" "00018521" "50" "3769" "0" "3769" "0" "c.3769C>T" "r.(?)" "p.(Arg1257Trp)" "" "0000562670" "00018521" "30" "3441" "7" "3441" "7" "c.3441+7G>A" "r.(=)" "p.(=)" "" "0000562671" "00018521" "50" "3440" "0" "3440" "0" "c.3440G>A" "r.(?)" "p.(Arg1147Lys)" "" "0000562672" "00018521" "50" "3151" "0" "3151" "0" "c.3151G>A" "r.(?)" "p.(Glu1051Lys)" "" "0000562673" "00018521" "50" "3062" "0" "3062" "0" "c.3062G>C" "r.(?)" "p.(Arg1021Pro)" "" "0000562674" "00018521" "90" "2979" "0" "2979" "0" "c.2979C>A" "r.(?)" "p.(Cys993Ter)" "" "0000562675" "00018521" "50" "2890" "0" "2890" "0" "c.2890G>A" "r.(?)" "p.(Val964Ile)" "" "0000562677" "00018521" "30" "2794" "0" "2794" "0" "c.2794G>A" "r.(?)" "p.(Asp932Asn)" "" "0000562678" "00018521" "30" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(Pro875Ser)" "" "0000562679" "00018521" "10" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000562680" "00018521" "90" "2014" "0" "2014" "0" "c.2014C>G" "r.(?)" "p.(Arg672Gly)" "" "0000562681" "00018521" "30" "1845" "7" "1845" "7" "c.1845+7A>T" "r.(=)" "p.(=)" "" "0000562682" "00018521" "30" "1845" "7" "1845" "7" "c.1845+7A>G" "r.(=)" "p.(=)" "" "0000562683" "00018521" "30" "1845" "3" "1845" "3" "c.1845+3A>G" "r.spl?" "p.?" "" "0000562684" "00018521" "30" "1845" "3" "1845" "3" "c.1845+3A>G" "r.spl?" "p.?" "" "0000562686" "00018521" "30" "1845" "2" "1845" "2" "c.1845+2T>G" "r.spl?" "p.?" "" "0000562687" "00018521" "30" "1844" "0" "1844" "0" "c.1844T>G" "r.(?)" "p.(Leu615Arg)" "" "0000562689" "00018521" "50" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000562691" "00018521" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "" "0000562692" "00018521" "30" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "" "0000562693" "00018521" "30" "1453" "-4" "1453" "-4" "c.1453-4A>G" "r.spl?" "p.?" "" "0000562694" "00018521" "30" "1100" "7" "1100" "7" "c.1100+7G>A" "r.(=)" "p.(=)" "" "0000562697" "00018521" "50" "957" "0" "957" "0" "c.957T>G" "r.(?)" "p.(Tyr319Ter)" "" "0000562699" "00018521" "50" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Leu227Phe)" "" "0000562702" "00018521" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000562703" "00018521" "50" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Phe105Ser)" "" "0000562704" "00018521" "30" "241" "0" "241" "0" "c.241G>C" "r.(?)" "p.(Glu81Gln)" "" "0000562705" "00018521" "30" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Arg31Leu)" "" "0000577982" "00018521" "50" "3539" "0" "3539" "0" "c.3539A>G" "r.(?)" "p.Asn1180Ser" "" "0000598529" "00018521" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" "9" "0000616756" "00018521" "70" "4312" "0" "4312" "0" "c.4312C>T" "r.(?)" "p.(Gln1438Ter)" "" "0000630866" "00018521" "70" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Ile215Thr)" "5" "0000630885" "00018521" "90" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Ile215Thr)" "5" "0000630886" "00018521" "70" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Ile239Ser)" "6" "0000630887" "00018521" "70" "825" "0" "825" "0" "c.825C>A" "r.(?)" "p.(Asn275Lys)" "6" "0000630888" "00018521" "70" "1333" "0" "1333" "0" "c.1333G>T" "r.(?)" "p.(Val445Leu)" "9" "0000630889" "00018521" "70" "2076" "0" "2076" "0" "c.2076C>G" "r.(?)" "p.(Ile692Met)" "13" "0000630890" "00018521" "70" "3466" "0" "3466" "0" "c.3466G>T" "r.(?)" "p.(Ala1156Ser)" "19" "0000630891" "00018521" "70" "3539" "0" "3539" "0" "c.3539A>T" "r.(?)" "p.(Asn1180Ile)" "19" "0000630892" "00018521" "70" "3890" "0" "3890" "0" "c.3890A>G" "r.(?)" "p.(Asn1297Ser)" "21" "0000630893" "00018521" "70" "3893" "0" "3893" "0" "c.3893T>G" "r.(?)" "p.(Phe1298Cys)" "21" "0000630894" "00018521" "70" "3539" "0" "3539" "0" "c.3539A>T" "r.(?)" "p.(Asn1180Ile)" "19" "0000643422" "00018521" "70" "3890" "0" "3890" "0" "c.3890A>G" "r.(?)" "p.(Asn1297Ser)" "" "0000647207" "00018521" "70" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Ala1156Thr)" "" "0000649670" "00018521" "10" "6938" "0" "6938" "0" "c.*1427T>C" "r.(=)" "p.(=)" "" "0000649671" "00018521" "30" "2717" "0" "2717" "0" "c.2717G>C" "r.(?)" "p.(Ser906Thr)" "" "0000649672" "00018521" "30" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Val781Ile)" "" "0000649673" "00018521" "50" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000653141" "00018521" "90" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Ala1156Thr)" "" "0000653404" "00018521" "50" "2626" "0" "2626" "0" "c.2626G>A" "r.(?)" "p.(Glu876Lys)" "" "0000653405" "00018521" "70" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Ile588Val)" "" "0000653440" "00018521" "70" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Val1293Ile)" "" "0000658231" "00018521" "30" "403" "0" "403" "0" "c.403A>C" "r.(?)" "p.(Met135Leu)" "" "0000659566" "00018521" "90" "2076" "0" "2076" "0" "c.2076C>G" "r.(?)" "p.(Ile692Met)" "" "0000659706" "00018521" "90" "2015" "0" "2015" "0" "c.2015G>A" "r.(?)" "p.(Arg672His)" "" "0000659788" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Glu)" "" "0000660269" "00018521" "90" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" "" "0000664828" "00018521" "50" "3703" "0" "3703" "0" "c.3703C>T" "r.(?)" "p.(Leu1235Phe)" "" "0000669411" "00018521" "10" "864" "0" "864" "0" "c.864C>T" "r.(=)" "p.(=)" "" "0000674729" "00018521" "90" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Arg1142*)" "" "0000675159" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>T" "r.(?)" "p.(Gly1306Val)" "" "0000675304" "00018521" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Cys)" "" "0000675354" "00018521" "50" "4433" "0" "4433" "0" "c.4433C>T" "r.(?)" "p.(Ser1478Leu)" "" "0000680971" "00018521" "50" "5218" "0" "5218" "0" "c.5218C>T" "r.(?)" "p.(Arg1740Trp)" "" "0000680972" "00018521" "30" "4690" "0" "4690" "0" "c.4690G>A" "r.(?)" "p.(Val1564Ile)" "" "0000680973" "00018521" "50" "4351" "0" "4351" "0" "c.4351C>T" "r.(?)" "p.(Arg1451Cys)" "" "0000692433" "00018521" "50" "4280" "0" "4280" "0" "c.4280C>T" "r.(?)" "p.(Ser1427Phe)" "" "0000697704" "00018521" "70" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000697705" "00018521" "70" "3893" "0" "3893" "0" "c.3893T>G" "r.(?)" "p.(Phe1298Cys)" "" "0000697706" "00018521" "70" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" "" "0000697707" "00018521" "70" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Gly166Glu)" "" "0000697708" "00018521" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000699415" "00018521" "90" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "" "0000699416" "00018521" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000699417" "00018521" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470*)" "" "0000699418" "00018521" "90" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Asp1069Asn)" "" "0000699419" "00018521" "90" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Asp1069Asn)" "" "0000699420" "00018521" "90" "1144" "0" "1144" "0" "c.1144C>A" "r.(?)" "p.(Pro382Thr)" "" "0000699421" "00018521" "90" "1144" "0" "1144" "0" "c.1144C>A" "r.(?)" "p.(Pro382Thr)" "" "0000699422" "00018521" "90" "1144" "0" "1144" "0" "c.1144C>A" "r.(?)" "p.(Pro382Thr)" "" "0000699423" "00018521" "90" "608" "0" "608" "0" "c.608T>A" "r.(?)" "p.(Met203Lys)" "" "0000699424" "00018521" "90" "608" "0" "608" "0" "c.608T>A" "r.(?)" "p.(Met203Lys)" "" "0000699425" "00018521" "90" "608" "0" "608" "0" "c.608T>A" "r.(?)" "p.(Met203Lys)" "" "0000699426" "00018521" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Arg1135Cys)" "" "0000699427" "00018521" "90" "3626" "0" "3626" "0" "c.3626G>T" "r.(?)" "p.(Cys1209Phe)" "" "0000699428" "00018521" "90" "5345" "0" "5345" "0" "c.5345dup" "r.(?)" "p.(His1782Glnfs*65)" "" "0000699429" "00018521" "90" "3145" "-2" "3145" "-2" "c.3145-2A>C" "r.3144_3145ins[3144+1_3145-3;cg]" "p.Ala1049Valfs*50" "" "0000699430" "00018521" "90" "3145" "-2" "3145" "-2" "c.3145-2A>C" "r.3144_3145ins[3144+1_3145-3;cg]" "p.Ala1049Valfs*50" "" "0000699431" "00018521" "90" "4779" "0" "4779" "0" "c.4779C>A" "r.(?)" "p.(Tyr1593*)" "" "0000699432" "00018521" "90" "4779" "0" "4779" "0" "c.4779C>A" "r.(?)" "p.(Tyr1593*)" "" "0000699433" "00018521" "90" "4779" "0" "4779" "0" "c.4779C>A" "r.(?)" "p.(Tyr1593*)" "" "0000714879" "00018521" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Val263Ile)" "" "0000714966" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Glu)" "22" "0000726609" "00018521" "50" "5218" "0" "5218" "0" "c.5218C>T" "r.(?)" "p.(Arg1740Trp)" "" "0000726610" "00018521" "70" "4351" "0" "4351" "0" "c.4351C>T" "r.(?)" "p.(Arg1451Cys)" "" "0000726612" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>T" "r.(?)" "p.(Gly1306Val)" "" "0000726613" "00018521" "50" "3136" "0" "3136" "0" "c.3136G>T" "r.(?)" "p.(Gly1046Trp)" "" "0000726614" "00018521" "50" "2802" "0" "2802" "0" "c.2802G>C" "r.(?)" "p.(Glu934Asp)" "" "0000726615" "00018521" "50" "2329" "0" "2329" "0" "c.2329A>T" "r.(?)" "p.(Met777Leu)" "" "0000726616" "00018521" "50" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Ala488Thr)" "" "0000726617" "00018521" "30" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "" "0000726618" "00018521" "50" "483" "-5" "483" "-5" "c.483-5C>G" "r.spl?" "p.?" "" "0000726619" "00018521" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000787385" "00018521" "50" "3004" "0" "3004" "0" "c.3004T>C" "r.(?)" "p.(Trp1002Arg)" "16" "0000787599" "00018521" "50" "4720" "0" "4720" "0" "c.4720G>A" "r.(?)" "p.(Gly1574Ser)" "24" "0000791110" "00018521" "70" "5113" "0" "5113" "0" "c.5113T>A" "r.(?)" "p.(Phe1705Ile)" "" "0000808204" "00018521" "50" "4711" "0" "4711" "0" "c.4711C>T" "r.(?)" "p.(Pro1571Ser)" "" "0000808205" "00018521" "50" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Arg1463Cys)" "" "0000808206" "00018521" "30" "3720" "10" "3720" "10" "c.3720+10A>G" "r.(=)" "p.(=)" "" "0000808207" "00018521" "30" "2511" "0" "2511" "0" "c.2511G>A" "r.(?)" "p.(Lys837=)" "" "0000808208" "00018521" "30" "1100" "7" "1100" "7" "c.1100+7G>A" "r.(=)" "p.(=)" "" "0000808209" "00018521" "30" "952" "0" "952" "0" "c.952T>C" "r.(?)" "p.(Trp318Arg)" "" "0000808210" "00018521" "30" "483" "-5" "483" "-5" "c.483-5C>A" "r.spl?" "p.?" "" "0000818605" "00018521" "70" "1298" "0" "1298" "0" "c.1298T>G" "r.(?)" "p.(Leu433Arg)" "" "0000829257" "00018521" "50" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Gly760Glu)" "" "0000833130" "00018521" "70" "3798" "0" "3798" "0" "c.3798G>C" "r.(?)" "p.(Glu1266Asp)" "" "0000855054" "00018521" "50" "5491" "0" "5491" "0" "c.5491G>A" "r.(?)" "p.(Val1831Ile)" "" "0000855055" "00018521" "50" "3911" "0" "3912" "1" "c.3911_3912+1del" "r.spl?" "p.?" "" "0000855056" "00018521" "50" "2563" "0" "2563" "0" "c.2563A>G" "r.(?)" "p.(Met855Val)" "" "0000855057" "00018521" "10" "1845" "18" "1845" "18" "c.1845+18A>T" "r.(=)" "p.(=)" "" "0000855058" "00018521" "30" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000855059" "00018521" "30" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "" "0000855060" "00018521" "30" "483" "-5" "483" "-5" "c.483-5C>A" "r.spl?" "p.?" "" "0000865434" "00018521" "50" "3835" "0" "3835" "0" "c.3835A>G" "r.(?)" "p.(Ile1279Val)" "" "0000865435" "00018521" "30" "3759" "0" "3759" "0" "c.3759C>T" "r.(?)" "p.(Ala1253=)" "" "0000865436" "00018521" "10" "3720" "9" "3720" "9" "c.3720+9G>T" "r.(=)" "p.(=)" "" "0000865437" "00018521" "70" "3404" "0" "3404" "0" "c.3404G>A" "r.(?)" "p.(Arg1135His)" "" "0000865438" "00018521" "30" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000865439" "00018521" "30" "483" "-9" "483" "-9" "c.483-9C>T" "r.(=)" "p.(=)" "" "0000865440" "00018521" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Glu49Lys)" "" "0000870227" "00018521" "70" "3905" "0" "3905" "0" "c.3905A>G" "r.(?)" "p.(Lys1302Arg)" "21" "0000870647" "00018521" "90" "644" "0" "644" "0" "c.644T>C" "r.(?)" "p.(Ile215Thr)" "" "0000870648" "00018521" "90" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Ala699Thr)" "" "0000870649" "00018521" "90" "2599" "0" "2616" "0" "c.(2599_2616dup)" "r.(?)" "p.(Ala867_Glu872dup)" "44i" "0000870650" "00018521" "90" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Val1293Ile)" "47i_54i" "0000870651" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000870652" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000870653" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>T" "r.(?)" "p.(Gly1306Val)" "" "0000870654" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "" "0000870655" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "" "0000870656" "00018521" "90" "4343" "0" "4343" "0" "c.4343G>A" "r.(?)" "p.(Arg1448His)" "" "0000870657" "00018521" "90" "4342" "0" "4342" "0" "c.4342C>T" "r.(?)" "p.(Arg1448Cys)" "" "0000870658" "00018521" "90" "4378" "0" "4378" "0" "c.4378C>T" "r.(?)" "p.(Arg1460Trp)" "" "0000870659" "00018521" "90" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "" "0000870660" "00018521" "90" "4774" "0" "4774" "0" "c.4774A>G" "r.(?)" "p.(Met1592Val)" "" "0000870661" "00018521" "90" "4783" "0" "4783" "0" "c.4783G>T" "r.(?)" "p.(Ala1595Ser)" "" "0000870680" "00018521" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Val1507Ile)" "" "0000870681" "00018521" "90" "2599" "0" "2616" "0" "c.(2599_2616dup)" "r.(?)" "p.(Ala867_Glu872dup)" "" "0000872013" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "22" "0000872029" "00018521" "90" "2078" "0" "2078" "0" "c.2078T>C" "r.(?)" "p.(Ile693Thr)" "13" "0000881157" "00018521" "90" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" "" "0000894172" "00018521" "10" "5478" "0" "5478" "0" "c.5478T>G" "r.(?)" "p.(Thr1826=)" "" "0000894173" "00018521" "30" "5403" "0" "5403" "0" "c.5403C>T" "r.(?)" "p.(Ala1801=)" "" "0000894174" "00018521" "30" "4690" "0" "4690" "0" "c.4690G>A" "r.(?)" "p.(Val1564Ile)" "" "0000894175" "00018521" "50" "4609" "0" "4609" "0" "c.4609G>A" "r.(?)" "p.(Gly1537Ser)" "" "0000894176" "00018521" "10" "4288" "10" "4288" "10" "c.4288+10G>T" "r.(=)" "p.(=)" "" "0000894177" "00018521" "90" "3404" "0" "3404" "0" "c.3404G>A" "r.(?)" "p.(Arg1135His)" "" "0000894178" "00018521" "30" "3360" "0" "3360" "0" "c.3360G>A" "r.(?)" "p.(Ser1120=)" "" "0000894179" "00018521" "10" "2989" "5" "2989" "5" "c.2989+5G>A" "r.spl?" "p.?" "" "0000894180" "00018521" "10" "2919" "0" "2919" "0" "c.2919C>T" "r.(?)" "p.(Pro973=)" "" "0000894181" "00018521" "10" "2631" "0" "2631" "0" "c.2631T>C" "r.(?)" "p.(Asp877=)" "" "0000894182" "00018521" "90" "2023" "0" "2023" "0" "c.2023C>T" "r.(?)" "p.(Arg675Trp)" "" "0000894183" "00018521" "30" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000894184" "00018521" "10" "1653" "0" "1653" "0" "c.1653C>T" "r.(?)" "p.(Cys551=)" "" "0000894185" "00018521" "30" "1606" "20" "1606" "20" "c.1606+20G>A" "r.(=)" "p.(=)" "" "0000894186" "00018521" "30" "1413" "0" "1413" "0" "c.1413G>A" "r.(?)" "p.(Met471Ile)" "" "0000894187" "00018521" "10" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "" "0000894188" "00018521" "10" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Asn288=)" "" "0000894189" "00018521" "70" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Leu250Pro)" "" "0000894190" "00018521" "10" "403" "0" "403" "0" "c.403A>C" "r.(?)" "p.(Met135Leu)" "" "0000894191" "00018521" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Arg122=)" "" "0000894192" "00018521" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000900560" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900561" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900562" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900563" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900564" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900565" "00018521" "90" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Pro1158Ser)" "" "0000900566" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000900567" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000900568" "00018521" "90" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Val1293Ile)" "" "0000900569" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000900570" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>C" "r.(?)" "p.(Gly1306Ala)" "" "0000900571" "00018521" "90" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Met)" "" "0000914947" "00018521" "70" "4098" "0" "4098" "0" "c.4098C>A" "r.(?)" "p.(Asn1366Lys)" "" "0000914948" "00018521" "90" "3466" "0" "3466" "0" "c.3466G>A" "r.(?)" "p.(Ala1156Thr)" "" "0000914949" "00018521" "10" "2717" "0" "2717" "0" "c.2717G>C" "r.(?)" "p.(Ser906Thr)" "" "0000914950" "00018521" "70" "2143" "0" "2143" "0" "c.2143G>C" "r.(?)" "p.(Ala715Pro)" "" "0000914951" "00018521" "90" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" "" "0000914952" "00018521" "50" "1630" "0" "1630" "0" "c.1630T>C" "r.(?)" "p.(Cys544Arg)" "" "0000920840" "00018521" "90" "1841" "0" "1841" "0" "c.1841A>T" "r.(?)" "p.(Asn614Ile)" "" "0000920841" "00018521" "90" "4420" "0" "4420" "0" "c.4420G>A" "r.(?)" "p.(Ala1474Thr)" "" "0000926625" "00018521" "30" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Glu986=)" "" "0000926626" "00018521" "30" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Thr780=)" "" "0000927663" "00018521" "90" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Thr592Ile)" "11" "0000930872" "00018521" "90" "3938" "0" "3938" "0" "c.3938C>T" "r.(?)" "p.(Thr1313Met)" "" "0000930873" "00018521" "90" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Val1293Ile)" "" "0000930874" "00018521" "70" "3452" "0" "3452" "0" "c.3452A>G" "r.(?)" "p.(Asn1151Ser)" "" "0000946030" "00018521" "90" "1408" "0" "1408" "0" "c.1408C>T" "r.(?)" "p.(Gln470Ter)" "" "0000946031" "00018521" "90" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Arg225Trp)" "" "0000946032" "00018521" "90" "4364" "0" "4364" "0" "c.4364T>C" "r.(?)" "p.(Ile1455Thr)" "" "0000946055" "00018521" "50" "3093" "0" "3093" "0" "c.3093C>G" "r.(?)" "p.(Asn1031Lys)" "" "0000946101" "00018521" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Val1507Ile)" "" "0000946138" "00018521" "50" "1144" "0" "1144" "0" "c.1144C>A" "r.(?)" "p.(Pro382Thr)" "" "0000946172" "00018521" "90" "5345" "0" "5345" "0" "c.5345dup" "r.(?)" "p.(His1782GlnfsTer65)" "" "0000946173" "00018521" "90" "3626" "0" "3626" "0" "c.3626G>T" "r.(?)" "p.(Cys1209Phe)" "" "0000946195" "00018521" "50" "4388" "0" "4388" "0" "c.4388G>A" "r.(?)" "p.(Arg1463His)" "" "0000951015" "00018521" "50" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Asp1069Asn)" "" "0000969161" "00018521" "30" "2646" "0" "2646" "0" "c.2646G>A" "r.(?)" "p.(Pro882=)" "" "0000969164" "00018521" "30" "1796" "0" "1796" "0" "c.1796A>G" "r.(?)" "p.(His599Arg)" "" "0000982712" "00018521" "50" "5233" "0" "5233" "0" "c.5233C>T" "r.(?)" "p.(Arg1745Cys)" "" "0000982713" "00018521" "50" "4508" "0" "4508" "0" "c.4508A>G" "r.(?)" "p.(Asn1503Ser)" "" "0000982714" "00018521" "50" "4168" "0" "4168" "0" "c.4168A>T" "r.(?)" "p.(Met1390Leu)" "" "0000982715" "00018521" "50" "3595" "0" "3595" "0" "c.3595G>A" "r.(?)" "p.(Asp1199Asn)" "" "0000982716" "00018521" "50" "2599" "0" "2616" "0" "c.2599_2616dup" "r.(?)" "p.(Ala867_Glu872dup)" "" "0000982717" "00018521" "50" "2128" "0" "2128" "0" "c.2128A>G" "r.(?)" "p.(Ile710Val)" "" "0000982718" "00018521" "50" "483" "-9" "483" "-9" "c.483-9C>A" "r.(=)" "p.(=)" "" "0000982719" "00018521" "30" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Met135Thr)" "" "0000982720" "00018521" "30" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Cys)" "" "0000989360" "00018521" "90" "4388" "0" "4388" "0" "c.4388G>A" "r.(?)" "p.(Arg1463His)" "" "0001003559" "00018521" "50" "5233" "0" "5233" "0" "c.5233C>T" "r.(?)" "p.(Arg1745Cys)" "" "0001003560" "00018521" "50" "4390" "0" "4390" "0" "c.4390G>C" "r.(?)" "p.(Gly1464Arg)" "" "0001003561" "00018521" "50" "4352" "0" "4352" "0" "c.4352G>A" "r.(?)" "p.(Arg1451His)" "" "0001003562" "00018521" "50" "4201" "0" "4201" "0" "c.4201G>A" "r.(?)" "p.(Val1401Met)" "" "0001003563" "00018521" "50" "3986" "0" "3986" "0" "c.3986A>G" "r.(?)" "p.(Lys1329Arg)" "" "0001003564" "00018521" "50" "3926" "0" "3926" "0" "c.3926A>G" "r.(?)" "p.(Asp1309Gly)" "" "0001003565" "00018521" "50" "3692" "0" "3692" "0" "c.3692G>A" "r.(?)" "p.(Gly1231Asp)" "" "0001003566" "00018521" "30" "3176" "0" "3176" "0" "c.3176G>A" "r.(?)" "p.(Arg1059Gln)" "" "0001003567" "00018521" "30" "2698" "0" "2698" "0" "c.2698G>A" "r.(?)" "p.(Ala900Thr)" "" "0001003568" "00018521" "30" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Ser813Leu)" "" "0001003569" "00018521" "50" "2422" "0" "2422" "0" "c.2422G>A" "r.(?)" "p.(Asp808Asn)" "" "0001003570" "00018521" "50" "2266" "0" "2266" "0" "c.2266C>T" "r.(?)" "p.(Arg756Cys)" "" "0001003571" "00018521" "50" "2131" "0" "2131" "0" "c.2131G>A" "r.(?)" "p.(Val711Met)" "" "0001003572" "00018521" "50" "1808" "0" "1808" "0" "c.1808C>G" "r.(?)" "p.(Thr603Arg)" "" "0001003573" "00018521" "30" "1602" "0" "1602" "0" "c.1602G>A" "r.(?)" "p.(Met534Ile)" "" "0001003574" "00018521" "50" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Leu212Ser)" "" "0001003575" "00018521" "50" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Arg190Gln)" "" "0001011904" "00018521" "90" "3917" "0" "3917" "0" "c.3917G>A" "r.(?)" "p.(Gly1306Glu)" "" "0001015603" "00018521" "30" "2854" "-5" "2854" "-5" "c.2854-5C>T" "r.spl?" "p.?" "" "0001027033" "00018521" "30" "1653" "0" "1653" "0" "c.1653C>T" "r.(?)" "p.(Cys551=)" "" "0001042079" "00018521" "50" "5264" "0" "5264" "0" "c.5264G>A" "r.(?)" "p.(Arg1755His)" "" "0001042080" "00018521" "50" "4609" "0" "4609" "0" "c.4609G>A" "r.(?)" "p.(Gly1537Ser)" "" "0001042081" "00018521" "50" "4532" "0" "4532" "0" "c.4532C>T" "r.(?)" "p.(Ser1511Leu)" "" "0001042082" "00018521" "50" "4351" "0" "4351" "0" "c.4351C>T" "r.(?)" "p.(Arg1451Cys)" "" "0001042083" "00018521" "50" "3688" "0" "3688" "0" "c.3688G>A" "r.(?)" "p.(Val1230Met)" "" "0001042084" "00018521" "10" "2289" "0" "2289" "0" "c.2289C>T" "r.(?)" "p.(Ile763=)" "" "0001042085" "00018521" "10" "1167" "0" "1167" "0" "c.1167T>C" "r.(?)" "p.(Tyr389=)" "" "0001042086" "00018521" "70" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Thr231Met)" "" "0001042087" "00018521" "30" "489" "0" "489" "0" "c.489C>G" "r.(?)" "p.(Thr163=)" "" "0001042088" "00018521" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0001042089" "00018521" "50" "307" "0" "311" "0" "c.307_311del" "r.(?)" "p.(Phe103Leufs*48)" "" "0001042090" "00018521" "50" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18His)" "" "0001046663" "00018521" "30" "204" "0" "204" "0" "c.204C>T" "r.(?)" "p.(Tyr68=)" "" "0001046925" "00018521" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31Gln)" "" "0001056139" "00018521" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0001056140" "00018521" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Glu49Lys)" "" "0001057655" "00018521" "50" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Leu64Val)" "" "0001057656" "00018521" "90" "4298" "0" "4298" "0" "c.4298T>G" "r.(?)" "p.(Leu1433Arg)" "" "0001057657" "00018521" "90" "4324" "0" "4324" "0" "c.4324G>A" "r.(?)" "p.(Val1442Met)" "" "0001059124" "00018521" "70" "3781" "0" "3781" "0" "c.3781G>T" "r.(?)" "p.(Glu1261Ter)" "" "0001059125" "00018521" "70" "4601" "0" "4601" "0" "c.4601C>T" "r.(?)" "p.(Thr1534Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 916 "{{screeningid}}" "{{variantid}}" "0000029676" "0000053056" "0000029677" "0000053057" "0000029678" "0000053058" "0000029679" "0000053059" "0000029680" "0000053060" "0000036983" "0000064108" "0000036984" "0000064109" "0000036985" "0000064110" "0000036986" "0000064111" "0000036987" "0000064112" "0000036988" "0000064113" "0000036989" "0000064114" "0000036990" "0000064115" "0000036991" "0000064116" "0000036992" "0000064117" "0000036993" "0000064118" "0000036994" "0000064119" "0000036995" "0000064120" "0000036996" "0000064121" "0000036997" "0000064122" "0000036998" "0000064123" "0000036999" "0000064124" "0000037000" "0000064125" "0000037001" "0000064126" "0000037002" "0000064127" "0000037003" "0000064128" "0000037004" "0000064129" "0000037005" "0000064130" "0000037006" "0000064131" "0000037007" "0000064132" "0000037008" "0000064133" "0000037009" "0000064134" "0000037010" "0000064135" "0000037011" "0000064136" "0000037012" "0000064137" "0000037013" "0000064138" "0000037014" "0000064139" "0000037015" "0000064140" "0000037016" "0000064141" "0000037017" "0000064142" "0000037018" "0000064143" "0000037019" "0000064144" "0000037020" "0000064145" "0000037021" "0000064146" "0000037022" "0000064147" "0000037023" "0000064148" "0000037024" "0000064149" "0000037025" "0000064150" "0000047717" "0000053060" "0000047718" "0000053059" "0000047719" "0000053058" "0000047720" "0000053057" "0000047721" "0000053056" "0000047722" "0000076457" "0000092407" "0000150689" "0000092407" "0000150690" "0000113259" "0000182523" "0000113260" "0000182832" "0000113261" "0000182826" "0000113262" "0000182323" "0000113262" "0000182592" "0000113262" "0000182825" "0000113263" "0000182802" "0000113264" "0000182783" "0000113265" "0000182686" "0000113266" "0000182536" "0000113266" "0000182676" "0000113267" "0000182662" "0000113268" "0000182663" "0000113269" "0000182650" "0000113270" "0000182621" "0000113271" 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