### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CACNA1A) # 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}}" "CACNA1A" "calcium channel, voltage-dependent, P/Q type, alpha 1A subunit" "19" "p13" "no" "LRG_7" "UD_132084485737" "" "http://www.LOVD.nl/CACNA1A" "" "1" "1388" "773" "601011" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012." "" "g" "http://databases.lovd.nl/shared/refseq/CACNA1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2004-06-21 00:00:00" "00006" "2018-11-18 20:53:43" "00006" "2025-10-10 16:21:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024115" "CACNA1A" "transcript variant 3" "002" "NM_001127221.1" "" "NP_001120693.1" "" "" "" "-236" "8390" "6786" "13617274" "13317256" "00006" "2016-03-27 15:54:33" "" "" "00025282" "CACNA1A" "transcript variant 2" "005" "NM_023035.2" "" "NP_075461.2" "" "" "" "-236" "8410" "7539" "13617274" "13317256" "00006" "2018-05-31 09:15:06" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00284" "-" "epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy" "" "" "" "" "" "00081" "2013-11-28 15:59:11" "00006" "2015-12-08 23:59:30" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01185" "EA2" "ataxia, episodic, type 2" "AD" "108500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:51:15" "01362" "FHM1" "migraine, hemiplegic, familial, type 1" "AD" "141500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:52:54" "01564" "SCA6" "ataxia, spinocerebellar, type 6" "AD" "183086" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:53:30" "04167" "SCA" "ataxia, spinocerebellar (SCA)" "" "" "" "" "" "00006" "2014-12-24 11:54:32" "00006" "2015-12-08 23:59:30" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "05520" "migraine" "migraine (MGR)" "" "" "" "" "" "00006" "2018-11-18 16:51:01" "00006" "2020-09-02 08:49:23" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "05760" "EA" "ataxia, episodic (EA)" "" "" "" "" "" "00006" "2020-06-05 18:59:48" "" "" "05802" "DEE42;EIEE42" "encephalopathy, developmental and epileptic, type 42" "AD" "617106" "" "" "" "00006" "2020-07-31 12:16:53" "00006" "2023-03-22 16:52:25" "06844" "AUTSX4" "{Autism, susceptibility to, X-linked 4}" "XLR" "300830" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CACNA1A" "01185" "CACNA1A" "01362" "CACNA1A" "01564" "CACNA1A" "05802" ## Individuals ## Do not remove or alter this header ## ## Count = 493 "{{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}}" "00054868" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat6" "00073161" "" "" "" "1" "" "01400" "ATX517" "" "F" "" "France" "" "0" "" "" "" "" "00089207" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00089208" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "father unavailable" "F" "" "" "" "0" "" "" "" "" "00089209" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00089210" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "mosaic mother" "M" "" "" "" "0" "" "" "" "" "00089211" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00103880" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH3691_1" "00110547" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110548" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110549" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110550" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110551" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110552" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110553" "" "" "" "3" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110554" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110556" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110557" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110559" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110561" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110562" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110563" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110564" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110565" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110566" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110567" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110568" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110569" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110570" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110571" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110572" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110573" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110574" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110575" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110576" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110577" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110578" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110579" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110580" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110581" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110582" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110583" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110584" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110585" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110586" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110587" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110588" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110589" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110590" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110591" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110592" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110594" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110595" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110596" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110598" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110599" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110600" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110602" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110603" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110604" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110605" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110607" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110609" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110610" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110612" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110613" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110614" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110615" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110616" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110617" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110618" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110619" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110620" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110621" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110622" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110623" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110624" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110625" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110626" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110627" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110628" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110629" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110630" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110631" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110632" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110633" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110634" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110637" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110640" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110641" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110643" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110645" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110646" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110647" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110648" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110649" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110650" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110651" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110654" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110658" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110659" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110660" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110661" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110662" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110663" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110665" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110666" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110667" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110668" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110669" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110670" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110671" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110672" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110673" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110674" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110675" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110676" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110677" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110678" "" "" "" "1" "" "01354" "" "" "" "" "" "" "0" "" "" "" "" "00110679" "" "" "" "3" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110680" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110681" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110682" "" "" "" "1" "" "00485" "" "2 brothers with innate factor IX-deficiency" "" "" "(Germany)" "" "0" "" "" "" "" "00110683" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110684" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00110685" "" "" "" "1" "" "00485" "" "" "" "" "(Germany)" "" "0" "" "" "" "" "00148527" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00148528" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "homozygous case" "" "" "Japan" "" "0" "" "" "" "09259274-PatHom" "00148529" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00152533" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00152538" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00164684" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29656859-Pat7" "00170846" "" "" "" "1" "" "00006" "{PMID:Shimazaki 2001:11311290}" "3-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "11311290-FamYPatIII1" "00170847" "" "" "" "1" "" "00006" "{PMID:Shimazaki 2001:11311290}" "extended family" "F" "" "Japan" "" "0" "" "" "" "11311290-FamAPatII1" "00207304" "" "" "" "1" "" "00753" "" "" "" "" "" "" "0" "" "" "" "" "00207305" "" "" "" "1" "" "00753" "" "" "" "" "" "" "0" "" "" "" "" "00208222" "" "" "" "1" "" "00000" "{PMID:Battistini 1999:10408534}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208223" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" "" "00208224" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" "" "00208225" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" "" "00208226" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" "" "00208227" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" "" "00208228" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" "" "00208229" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208230" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208231" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "M" "" "Australia" "" "0" "" "no treatment known" "white" "" "00208232" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208233" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208234" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "F" "" "Australia" "" "0" "" "no treatment known" "white" "" "00208235" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "M" "" "Australia" "" "0" "" "no treatment known" "white" "" "00208236" "" "" "" "1" "" "00000" "{PMID:Kors 2001:11409427}" "" "M" "" "Australia" "" "0" "" "no treatment known" "white" "" "00208237" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208238" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208239" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208240" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208241" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208242" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208243" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208244" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208245" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208246" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208247" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208248" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208249" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208250" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208251" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208252" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208253" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208254" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208255" "" "" "" "1" "" "00000" "{PMID:Battistini 1999:10408534}" "" "M" "" "Italy" "" "0" "" "no treatment known" "" "" "00208256" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208257" "" "" "" "1" "" "00000" "{PMID:Alonso 2003:12707077}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208258" "" "" "" "1" "" "00000" "{PMID:Battistini 1999:10408534}" "" "F" "" "Italy" "" "0" "" "Acetazolamide 250mg X 2" "" "" "00208259" "" "" "" "1" "" "00000" "{PMID:Battistini 1999:10408534}" "" "F" "" "Italy" "" "0" "" "Acetazolamide 250 mg x 2/die" "" "" "00208260" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208261" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208262" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Germany" "" "0" "" "Propranolol 40mg x 3/day" "" "" "00208263" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208264" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208265" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208266" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208267" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208268" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208269" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208270" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "Acetazolamide 250mg X 2" "" "" "00208271" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208272" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208273" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208274" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208275" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208276" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208277" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "Acetazolamide 250mg X 2" "" "" "00208278" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208279" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208280" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208281" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208282" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "M" "" "France" "" "0" "" "no treatment known" "" "" "00208283" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "M" "" "France" "" "0" "" "no treatment known" "" "" "00208284" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208285" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "M" "" "France" "" "0" "" "no treatment known" "" "" "00208286" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208287" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208288" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208289" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208290" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208291" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "Acetazolamide" "" "" "00208292" "" "" "" "1" "" "00000" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208293" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208294" "" "" "" "1" "" "00000" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208295" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "F" "" "France" "" "0" "" "no treatment known" "" "" "00208296" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "M" "" "France" "" "0" "" "no treatment known" "" "" "00208297" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "M" "" "France" "" "0" "" "no treatment known" "" "" "00208298" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "In this family (N.1) 20 patients carry the p.Thr666Met." "F" "" "France" "" "0" "" "no treatment known" "" "" "00208299" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208300" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "no treatment known" "" "" "00208301" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208302" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208303" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208304" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208305" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208306" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208307" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208308" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208309" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "polymorphism observed in HM/PCA patients" "" "" "France" "" "0" "" "no treatment known" "" "" "00208310" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208311" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208312" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208313" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208314" "" "" "" "1" "" "00000" "{PMID:Vahedi 2000:11061267}" "The variant was absent in both biologic healthy patients; See also: Chabriat H. et al., Neurology, 2000, 54: 510 (ISSN:0028-3878 Accession: 00006114-200001250-00054)" "F" "" "France" "" "0" "" "no treatment known" "" "" "00208315" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208316" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208317" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208318" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "F" "" "Italy" "" "0" "" "no treatment known" "" "" "00208319" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208320" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208321" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208322" "" "" "" "1" "" "00000" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" "" "00208323" "" "" "" "1" "" "00000" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Czech Republic" "" "0" "" "no treatment known" "" "" "00208324" "" "" "" "1" "" "00000" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208325" "" "" "" "1" "" "00000" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208326" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "no treatment known" "" "" "00208327" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "F" "" "United States" "" "0" "" "Acetazolamide" "" "" "00208328" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "Acetazolamide" "" "" "00208329" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "Acetazolamide" "" "" "00208330" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Netherlands" "" "0" "" "Acetazolamide" "" "" "00208331" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" "" "00208332" "" "" "" "1" "" "00000" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "F" "" "Netherlands" "" "0" "" "no treatment known" "" "" "00208333" "" "" "" "1" "" "00000" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "M" "" "Netherlands" "" "0" "" "no treatment known" "" "" "00208334" "" "" "" "1" "" "00000" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "" "M" "" "United States" "" "0" "" "no treatment known" "" "" "00208335" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208336" "" "" "" "1" "" "00000" "{PMID:Carrera 1999:10408532}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208337" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208338" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208339" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208340" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208341" "" "" "" "1" "" "00000" "{PMID:Ophoff 1996:8898206}" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208342" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208343" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "no treatment known" "" "" "00208344" "" "" "" "1" "" "00000" "{PMID:Freilinger 2008:18279427}" "Triggering factors of hemiplagic migraine: minor head trauma, change of weather" "M" "" "Germany" "" "0" "" "no treatment known" "" "" "00208345" "" "" "" "1" "" "00000" "{PMID:Freilinger 2008:18279427}" "Triggering factors of hemiplagic migraine: minor head trauma" "F" "" "Germany" "" "0" "" "no treatment known" "" "" "00208346" "" "" "" "1" "" "00000" "{PMID:Freilinger 2008:18279427}" "" "F" "" "Germany" "" "0" "" "no treatment known" "" "" "00208347" "" "" "" "1" "" "00000" "{PMID:Freilinger 2008:18279427}" "Triggering factors of hemiplagic migraine: emotional stress" "F" "" "Germany" "" "0" "" "" "" "" "00208348" "" "" "" "1" "" "00000" "{PMID:Freilinger 2008:18279427}" "Atypical phenotype: Did not experience any hemiplegic attacks; except for an episode of reduced consciousness of a few hours duration without accompanying headache or hemiparesis at the age of 7 years." "M" "" "Germany" "" "0" "" "" "" "" "00208349" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208350" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208351" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208352" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208353" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208354" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208355" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208356" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208357" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208358" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208359" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208360" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208361" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208362" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Sistematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208363" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208364" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208365" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208366" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208367" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma." "F" "" "Denmark" "" "0" "" "" "" "" "00208368" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208369" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma" "M" "" "Denmark" "" "0" "" "" "" "" "00208370" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%; FHM triggered by minor head trauma" "M" "" "Denmark" "" "0" "" "" "" "" "00208371" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208372" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "M" "" "Denmark" "" "0" "" "" "" "" "00208373" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208374" "" "" "" "1" "" "00000" "{PMID:Thomsen 2007:17142831}" "Systematic nationwide search (Danish Headache Center). Migraine-free control population. Penetrance 18/27=67%" "F" "" "Denmark" "" "0" "" "" "" "" "00208375" "" "" "" "1" "" "00000" "{PMID:de Vries 2008:18498393}" "de novo variant identified in a monozygotic twin pair with clinical features overlapping with both AHC (alternating hemiplegia of childhood) and FHM;" "M" "" "Germany" "" "0" "" "" "" "" "00208376" "" "" "" "1" "" "00000" "{PMID:de Vries 2008:18498393}" "de novo variant identified in a monozygotic twin pair with clinical features overlapping with both AHC (alternating hemiplegia of childhood) and FHM;" "M" "" "Germany" "" "0" "" "yes" "" "" "00208377" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "M" "" "" "" "0" "" "" "" "" "00208378" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "mild cognitive deterioration" "M" "" "" "" "0" "" "Acetazolamide, improved" "" "" "00208379" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "F" "" "" "" "0" "" "" "" "" "00208380" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "Some episodes were provoked by head trauma" "M" "" "" "" "0" "" "" "" "" "00208381" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "F" "" "" "" "0" "" "" "" "" "00208382" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "M" "" "" "" "0" "" "" "Jewish" "" "00208383" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "F" "" "" "" "0" "" "" "Jewish" "" "00208384" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "" "F" "" "" "" "0" "" "" "Jewish" "" "00208385" "" "" "" "1" "" "00000" "{PMID:Stam 2008:18400034}" "Attacks always precipitated by trivial head trauma." "F" "" "" "" "0" "" "" "" "" "00208386" "" "" "" "1" "" "00000" "{PMID:Terwindt 2002:12056940}, {PMID:De Vries 2007:18056581}" "First patient with sporadic hemiplagic migraine (SHM) without cerebellar signs with a mutation; His unaffected mother had migraine with aura but no hemiplegic attacks indicating incomplete penetrance." "M" "" "Netherlands" "" "0" "" "" "" "" "00208387" "" "" "" "1" "" "00000" "{PMID:Terwindt 2002:12056940}" "Patient with sporadic hemiplegic migraine (SHM) with permanent cerebellar ataxia and atrophy on computed tomographic scanning" "F" "" "Netherlands" "" "0" "" "" "" "" "00208388" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.11) 8 patients carry the p.Arg583Gln: 6 patients affected by hemiplegic migraine (HM) and Cerebellar Ataxia (CA); 1 patient with non Hemiplegic Migraine/MO and CA; 1 patient with non hemiplegic Migraine/MO. ; The phenotypes associated with p.Arg583Gln were characterized by the highest frequency of gait ataxia (81%) in the absence of any nystagmus." "" "" "" "" "0" "" "" "European" "" "00208389" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.1) 18 patients carry the p.Thr666Met: 10 patients affected by hemiplegic migraine (HM) with nystagmus (N), 6 patients with HM only, 1 patient with HM, N and Cerebellar Ataxia (CA), 1 patient with N and CA but without HM. 3 patients with HM and N did not carry the mutation; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208390" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.2) 5 patients carry the p.Thr666Met: 2 patients affected by hemiplegic migraine (HM) with nystagmus (N), 3 patients with HM, N and Cerebellar Ataxia (CA); The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208391" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.3) 3 patients carry the p.Thr666Met: all the 3 patients affected by hemiplegic migraine (HM) with nystagmus (N) and Cerebellar Ataxia (CA). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208392" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.4) 2 patients carry the p.Thr666Met: 1 patient affected by hemiplegic migraine (HM) with nystagmus (N), 1 patient with HM only. ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208393" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.5) 17 patients carry the p.Thr666Met: 6 patients affected by hemiplegic migraine (HM) with nystagmus (N), 5 patients with HM only, 6 patients with HM, N and Cerebellar Ataxia (CA). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%);" "" "" "" "" "0" "" "" "European" "" "00208394" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.6) 5 patients carry the p.Thr666Met: 3 patients affected by hemiplegic migraine (HM) with nystagmus (N), 2 patients with HM only. ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208395" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.7) 2 patients carry the p.Thr666Met: both patients affected by hemiplegic migraine (HM) with nystagmus (N). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "" "" "" "" "0" "" "" "European" "" "00208396" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.8) the proband had HM and nystagmus; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "M" "" "" "" "0" "" "" "European" "" "00208397" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.9) the proband affected by hemiplegic migraine (HM) with nystagmus (N). ; The phenotypes associated with p.Thr666Met were characterized by the highest frequency of hemiplegic migraine (98%), severe attacks with coma (50%),and nystagmus(86%)" "F" "" "" "" "0" "" "" "European" "" "00208398" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.10) 14 subjects carry the p.Asp715Glu: 1 patient affected by hemiplegic migraine (HM) with nystagmus (N) and Cerebellar Ataxia (CA); 1 patient with HM, N, CA and Tremor (T); 2 patients with HM only; 1 patient with HM and CA; 4 patients with HM and T; 2 patients with non hemiplegic Migraine/MO and CA; 1 patient with non hemiplegic Migraine/MO; 1 patient with non hemiplegic Migraine/MO, CA, N and T; 1 asymptomatic subject carrying the mutation; The phenotypes associated with p.Asp715Glu were characterized by the lowest frequency of attacks of hemiplegic migraine (64%)." "" "" "" "" "0" "" "" "European" "" "00208399" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.12) 4 patients carry the p.Arg583Gln: 3 patients affected by hemiplegic migraine (HM) and Cerebellar Ataxia (CA); 1 patient with CA only. ; The phenotypes associated with p.Arg583Gln were characterized by the highest frequency of gait ataxia (81%) in the absence of any nystagmus." "" "" "" "" "0" "" "" "European" "" "00208400" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.13) 2 patients carry the p.Trp1684Arg: 1 patient affected by hemiplegic migraine (HM) and Cerebellar Ataxia (CA); 1 patient with HM only." "" "" "" "" "0" "" "" "European" "" "00208401" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.14) 4 patients carry the p.Arg583Gln: 2 patients affected by hemiplegic migraine (HM) and Cerebellar Ataxia (CA); 2 patient with HM only. ; The phenotypes associated with p.Arg583Gln were characterized by the highest frequency of gait ataxia (81%) in the absence of any nystagmus." "" "" "" "" "0" "" "" "European" "" "00208402" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "The proband was affected by HM with cerebellar ataxia" "M" "" "" "" "0" "" "" "European" "" "00208403" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.17) 13 subjects carry the p.Lys1335Glu: 11 patients affected by hemiplegic migraine (HM); 1 patient with non Hemiplegic Migraine/MO; 1 asymptomatic subject." "" "" "" "" "0" "" "" "European" "" "00208404" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.19) 5 patients carry the p.Arg195Lys: all the patients affected by pure hemiplegic migraine (HM)." "" "" "" "" "0" "" "" "European" "" "00208405" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.21) 7 patients carry the p.Arg1667Trp: 6 patients affected by hemiplegic migraine (HM); 1 patient with non Hemiplegic Migraine/MO." "" "" "" "" "0" "" "" "European" "" "00208406" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "In this family (N.25) 3 patients carry the p.Val1695Ile: 2 patients affected by hemiplegic migraine (HM); 1 patient with non Hemiplegic Migraine/MO." "" "" "" "" "0" "" "" "European" "" "00208407" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "Patient affected by Hemiplegic Migraine with cerebellar signs" "" "" "" "" "0" "" "" "European" "" "00208408" "" "" "" "1" "" "00000" "{PMID:Ducros 2001:11439943}" "Patient affected by Hemiplegic Migraine with cerebellar signs" "" "" "" "" "0" "" "" "European" "" "00208409" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "In this family (N.2) 5 patients carry the p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208410" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "In this family (N.3) 3 patients carry the p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208411" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.4) 2 patients carry p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208412" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.5) 17 patients carry p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208413" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.6) 5 patients carry the p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208414" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.7) 2 patients carry the p. Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208415" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.8) 2 patients carry the p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208416" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "" "M" "" "France" "" "0" "" "" "" "" "00208417" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "In this family (N.10) 13 patients carry the p.Asp715Glu." "" "" "France" "" "0" "" "" "" "" "00208418" "" "" "" "1" "" "00000" "{PMID:Takahashi 2002:11971066}" "Migraine attacks began in the fifth decade." "F" "" "Japan" "" "0" "" "" "" "" "00208419" "" "" "" "1" "" "00000" "{PMID:Takahashi 2002:11971066}" "The patient had shown only cerebellar ataxia for more than 10 years before her first migraine attack." "F" "" "Japan" "" "0" "" "" "" "" "00208420" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "Polimorphism observed in HM/PCA patients. Frequency in controls from Ophoff et al, 1996." "" "" "France" "" "0" "" "" "" "" "00208421" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "In this family (N.9) 2 patients carry the p.Thr666Met." "" "" "France" "" "0" "" "" "" "" "00208422" "" "" "" "1" "" "00000" "{PMID:Cricchi 2007:17292920}" "This is the first description of a change residing in the cytoplasmic I-II loop." "F" "" "Italy" "" "0" "" "Acetazolamide,1 year trialgave no significant results" "" "" "00208423" "" "" "" "1" "" "00000" "{PMID:Chan 2008:18313928}" "At age 5 years the patient experienced five separate episodes of generalized tonic-clonic seizures triggered by mild head trauma; This may be a previously unrecognized feature of the S218L mutation; Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent;" "M" "" "Malaysia" "" "0" "" "" "" "" "00208424" "" "" "" "1" "" "00000" "{PMID:Chan 2008:18313928}" "Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent." "F" "" "Malaysia" "" "0" "" "" "" "" "00208425" "" "" "" "1" "" "00000" "{PMID:Chan 2008:18313928}" "The patient had experienced a few episodes of simple febrile seizures in childhood; at age 4 years, during a febrile illness, he had had secondary generalized tonic-clonic seizures that started with eye deviation and jerking of the left hand; Both parents were asymptomatic and did not carry the S218L mutation, this suggests the presence of mosaicism in the transmitting parent." "M" "" "Malaysia" "" "0" "" "" "" "" "00208426" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "Polymorphism observed in HM/PCA patients. Frequency in controls from Ophoff et al, 1996." "" "" "France" "" "0" "" "" "" "" "00208427" "" "" "" "1" "" "00000" "{PMID:Ducros 1999:9915947}" "Polymorphism observed in HM/PCA patients. Frequency in controls from Ophoff et al, 1996." "" "" "France" "" "0" "" "" "" "" "00208428" "" "" "" "1" "" "00000" "{PMID:Cricchi 2007:17292920}" "Affected by recurrent migraine-like headache episodes." "F" "" "Italy" "" "0" "" "responded to acetazolamide treatment" "" "" "00208429" "" "" "" "1" "" "00000" "{PMID:Beauvais 2004:15240985}" "The patient had a severe phenotype of FHM, with attacks of coma, hemiplegia and status epilepticus; The p.Ile1710Thr was a de novo mutation since it was absent in the parents." "F" "" "France" "" "0" "" "valproate, resolution symptoms" "" "" "00208430" "" "" "" "1" "" "00000" "{PMID:Alonso, 2004:15032980}" "" "F" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208431" "" "" "" "1" "" "00000" "{PMID:Alonso, 2004:15032980}" "" "M" "" "Portugal" "" "0" "" "no treatment known" "" "" "00208432" "" "" "" "1" "" "00000" "{PMID:Thomsen 2008:18513263}" "The patient is affected by sporadic hemiplegic migraine (SHM)" "F" "" "Denmark" "" "0" "" "no treatment known" "" "" "00208433" "" "" "" "1" "" "00000" "{PMID:Thomsen 2008:18513263}" "The patient is affected by sporadic hemiplegic migraine (SHM)" "F" "" "Denmark" "" "0" "" "no treatment known" "" "" "00208434" "" "" "" "1" "" "00000" "{PMID:Curtain 2006:16638514}" "The case report emphasizes the involvementof the S218L in sporadic hemiplegic migraine,delayed cerebral edema and coma after minor head trauma. ; Clinical characteristics of the child from this study closely resembled the patient (Patient III-6 from Family 2) from the study by Kors et al. \"Delayed cerebral edema and fatal coma after minor head trauma...\"Ann Neurol,2001; Both subjects had delayed coma onset after head trauma following at 1 to 1,5 hours. Both required ventilation because pf poor respiration,and both had low-grade fever.White matter involvement became apparent in both patients, and over 8-9 days both subjects manifested neurologic deterioration with loss of brainstem reflexes; In this case report neither parent carried the S218L mutation." "F" "" "Australia" "" "0" "" "yes" "" "" "00208435" "" "" "" "1" "" "00000" "{PMID:Kors 2004:15452324}" "She was hospitalized at ages 7 and 8 because of decreased consciousness and vomiting for 1 day, starting with a lucid interval after a fall. Haplotyping analysis confirmed that the mutation arose de novo in II-3." "F" "" "Sweden" "" "0" "" "" "" "" "00208436" "" "" "" "1" "" "00000" "{PMID:Kors 2004:15452324}" "Both III-5 and III-6, who have different fathers, showed cerebellar ataxia at age 4. Both have had attacks of migraine without aura since age 8 and so far two episodes of hemiplegic migraine; Both had complex partial seizures during childhood." "M" "" "Sweden" "" "0" "" "yes" "" "" "00208437" "" "" "" "1" "" "00000" "{PMID:Kors 2004:15452324}" "Both III-5 and III-6, who have different fathers, showed cerebellar ataxia at age 4. Both have had attacks of migraine without aura since age 8 and so far two episodes of hemiplegic migraine; Both had complex partial seizures during childhood." "F" "" "Sweden" "" "0" "" "yes" "" "" "00208438" "" "" "" "1" "" "00000" "{PMID:Friend 1999:10987655}" "" "M" "" "Australia" "" "0" "" "" "" "" "00208439" "" "" "" "1" "" "00000" "ISSN: 0028-3878 Accession: 00006114-199904122-00261" "The proband belongs to a 16 member family with 8 affected and a LOD of 1.28 (theta=0) at D19S394." "" "" "Canada" "" "0" "" "" "" "" "00208440" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208441" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208442" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208443" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208444" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208445" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208446" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208447" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208448" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208449" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208450" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208451" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208452" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "F" "" "" "" "0" "" "" "European" "" "00208453" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208454" "" "" "" "1" "" "00000" "{PMID:Dichgans 2005:15728280}" "" "M" "" "" "" "0" "" "" "European" "" "00208455" "" "" "" "1" "" "00000" "{PMID:Yabe 2008:18670797}" "The patient had vertigo and oscillopsia that were more pronounced with changes in head posture, since about age 20. At the age of 36, he developed episodes of sudden onset hemiplegia with sensory disturbances on the left side of his body followed by headache.At the age of 43, he developed a staggering walk. Neurological examination revealed moderate gaze-evoked nystagmus, severe DPN(Downbeat Positioning Nystagmus),dysmetria of both legs and ataxia of gait.Brain MRI demonstrated cerebellar atrophy." "M" "" "Japan" "" "0" "" "Acetazolamide 500 mg, two times daily" "" "" "00208456" "" "" "" "1" "" "00000" "{PMID:Yabe 2008:18670797}" "The patient experienced episodes of staggering gait and slurred speech about once annually since about 63 years of age. Neurological examination disclosed mild gaze-evoked nystagmus,severe DPN (Downbeat Positioning Nystagmus), bilateral mild cerebellar ataxia in the heel-knee tapping test, and unstable tandem gait. Brain MRI revealed atrophy in the cerebellar vermis. She complained of vertigo associated with DPN." "F" "" "Japan" "" "0" "" "" "" "" "00208458" "" "" "" "1" "" "00000" "{PMID:Cuenca-Leòn 2008:18644040}" "" "M" "" "Spain" "" "0" "" "" "" "" "00208459" "" "" "" "1" "" "00000" "{PMID:Cuenca-Leòn 2008:18644040}" "Clinical signs: HM,vertigo, MO; Mode of onset: Childhood periodic syndromes: benign paroxysmal torcicollis of infancy->benign paroxysmal vertigo of childhood" "M" "" "Spain" "" "0" "" "" "" "" "00208460" "" "" "" "1" "" "00000" "{PMID:Cuenca-Leòn 2008:18644040}" "" "M" "" "Spain" "" "0" "" "" "" "" "00208461" "" "" "" "1" "" "00000" "{PMID:Zangaladze 2010:20071244}" "This patient experienced the rare triad of sporadic hemiplegic migraine, cerebellar symptoms, and epilepsy linked to a CACNA1A gene point mutation; The patient presented with severe,continuous,right-sided throbbing headache lasting several weeks and accompanied by profound left-sided weakness and mild confusion. At age 4, she had a head trauma and a few months later developed occasional secondarily generalized tonic-clonic seizures and complex partial seizures that remitted at age 7." "F" "" "United States" "" "0" "" "Fosphenytoin intravenous, resolution symptoms" "" "" "00208462" "" "" "" "1" "" "00000" "{PMID:Malpas 2009:19811514}" "The patient suffers from severe hemiplegic migraine induced by minor head trauma. The mutation occurred de-novo; At age 5 the patient sustained a head injury after her wheel-chair was accidentally tipped over, causing her to strike the left side of her head; Over 48 hours she developed increasing right-sided weakness, with decreased tone, increased deep tendon reflexes. ; She had a right-sided focal seizures on day 8. ; ;" "F" "" "" "" "0" "" "" "European" "" "00208463" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208464" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "homozygous case" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208465" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208466" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208467" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208468" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208469" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208470" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208471" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208472" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208473" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208474" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208475" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208476" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208477" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208478" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208479" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208480" "" "" "" "2" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208481" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208482" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208483" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208484" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208485" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208486" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208487" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208488" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208489" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208490" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208491" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208492" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208493" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208494" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208495" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208496" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208497" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208498" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208499" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208500" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208501" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208502" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208503" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208504" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208505" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208506" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208507" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208508" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208509" "" "" "" "1" "" "00006" "{PMID:Matsuyama 1997:9259274}" "58 SCA cases" "" "" "Japan" "" "0" "" "" "" "09259274-Pat" "00208604" "" "" "" "13" "" "00006" "{PMID:Takiyama 1998:9702684}" "5-generation family, 13 affected (5F, 8M)" "F" "no" "Japan" "" "0" "" "" "" "09702684-FamPatIII7" "00208606" "" "" "00208604" "1" "" "00006" "{PMID:Takiyama 1998:9702684}" "PatIV1" "M" "" "Japan" "" "0" "" "" "" "09702684-FamPatIV1" "00208607" "" "" "00208604" "1" "" "00006" "{PMID:Takiyama 1998:9702684}" "" "M" "no" "Japan" "" "0" "" "" "" "09702684-FamPatIII8" "00208608" "" "" "00208604" "1" "" "00006" "{PMID:Takiyama 1998:9702684}" "" "M" "no" "Japan" "" "0" "" "" "" "09702684-FamPatIII6" "00208609" "" "" "00208604" "1" "" "00006" "{PMID:Takiyama 1998:9702684}" "" "M" "yes" "Japan" "" "0" "" "" "" "09702684-FamPatIV5" "00208610" "" "" "00208604" "1" "" "00006" "{PMID:Takiyama 1998:9702684}" "asymptomatic at 50y" "M" "yes" "Japan" ">50y" "0" "" "" "" "09702684-FamPatIV6" "00208622" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00229805" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00234405" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00245340" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00245342" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00245889" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00248429" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269301" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269538" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00271413" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00274173" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "M" "" "Poland" "" "0" "" "" "" "Pat39" "00289413" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00289424" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292047" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292048" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295922" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296868" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301260" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "" "" "" "" "" "00302890" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302971" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat16" "00302973" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat18" "00303088" "" "" "" "2" "" "00006" "{PMID:Waters 2019:31654490}" "3-generation family, affected father/daugther" "F" "" "Canada" "" "0" "" "" "" "Fam3" "00307080" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "" "" "" "0" "" "" "white" "Pat5" "00307085" "" "" "" "4" "" "03750" "" "" "M" "yes" "Spain" "00y06m" "0" "" "" "Gypsy" "" "00311033" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00315484" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00324119" "" "" "" "1" "" "01164" "" "" "F" "?" "Turkey" "" "0" "" "" "" "172661" "00326660" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "174205" "00329009" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "174246" "00332980" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "175852" "00334917" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Italy" "" "0" "" "" "" "PME16" "00359604" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "176905" "00374225" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2918" "00374670" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-834" "00375268" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "179639" "00376334" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "180451" "00380788" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00397574" "" "" "" "1" "" "01164" "" "" "F" "?" "" "" "0" "" "" "" "189980" "00403042" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00414039" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AD10" "00427793" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "Pat069" "00433673" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434216" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "M" "" "United States" "" "0" "" "" "Africa;black; white" "Fam40PatI" "00435495" "" "" "00435494" "1" "" "00006" "{PMID:Rots 2023:37196654}" "half-brother, adopted" "M" "" "" "" "0" "" "" "" "Pat12" "00438294" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat12" "00438348" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat66" "00438570" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0016" "00438714" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0779" "00442782" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat154" "00449749" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00449820" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00449880" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00452065" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "287499" "00455770" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat10" "00455838" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat78" "00455840" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat80" "00456496" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" "00459414" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00459524" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00464525" "" "" "" "1" "" "01164" "" "" "M" "no" "? (unknown)" "" "0" "" "" "" "326356" "00465220" "" "" "" "1" "" "04830" "" "" "M" "no" "Germany" "" "" "" "" "" "" "00466428" "" "" "" "2" "" "04169" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00466429" "" "" "" "1" "cc_by_4.0;1" "04169" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00467272" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH042" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 490 "{{individualid}}" "{{diseaseid}}" "00054868" "00284" "00073161" "04201" "00089207" "00344" "00089208" "00344" "00089209" "00344" "00089210" "00344" "00089211" "00344" "00103880" "00198" "00110547" "00198" "00110548" "00198" "00110549" "00198" "00110550" "00198" "00110551" "00198" "00110552" "00198" "00110553" "00198" "00110554" "00198" "00110556" "00198" "00110557" "00198" "00110559" "00198" "00110561" "00198" "00110562" "00198" "00110563" "00198" "00110564" "00198" "00110565" "00198" "00110566" "00198" "00110567" "00198" "00110568" "00198" "00110569" "00198" "00110570" "00198" "00110571" "00198" "00110572" "00198" "00110573" "00198" "00110574" "00198" "00110575" "00198" "00110576" "01362" "00110577" "00198" "00110578" "00198" "00110579" "00198" "00110580" "00198" "00110581" "00198" "00110582" "00198" "00110583" "00198" "00110584" "01362" "00110585" "00198" "00110586" "00198" "00110587" "00198" "00110588" "01185" "00110589" "00198" "00110590" "01362" "00110591" "00198" "00110592" "00198" "00110594" "01362" "00110595" "00198" "00110596" "00198" "00110598" "00198" "00110599" "00198" "00110600" "00198" "00110602" "00198" "00110603" "00198" "00110604" "00198" "00110605" "01185" "00110607" "00198" "00110609" "00198" "00110610" "00198" "00110612" "00198" "00110613" "00198" "00110614" "01185" "00110615" "00198" "00110616" "00198" "00110617" "00198" "00110618" "00198" "00110619" "00198" "00110620" "00198" "00110621" "00198" "00110622" "00198" "00110623" "00198" "00110624" "00198" "00110625" "00198" "00110626" "00198" "00110627" "00198" "00110628" "00198" "00110629" "00198" "00110630" "00198" "00110631" "00198" "00110632" "00198" "00110633" "00198" "00110634" "00198" "00110637" "00198" "00110640" "00198" "00110641" "00198" "00110643" "00198" "00110645" "01185" "00110646" "00198" "00110647" "00198" "00110648" "00198" "00110649" "00198" "00110650" "00198" "00110651" "00198" "00110654" "00198" "00110658" "00198" "00110659" "00198" "00110660" "00198" "00110661" "01185" "00110662" "00198" "00110663" "00198" "00110665" "00198" "00110666" "00198" "00110667" "00198" "00110668" "00198" "00110669" "00198" "00110670" "00198" "00110671" "00198" "00110672" "00198" "00110673" "00198" "00110674" "00198" "00110675" "00198" "00110676" "00198" "00110677" "00198" "00110678" "00198" "00110679" "00198" "00110680" "00198" "00110681" "00198" "00110682" "00198" "00110683" "01185" "00110684" "00198" "00110685" "00198" "00148527" "04167" "00148528" "04167" "00148529" "04167" "00152533" "00198" "00152538" "00198" "00164684" "00198" "00170846" "00198" "00170847" "00000" "00207304" "05520" "00207305" "05520" "00208222" "05520" "00208223" "05520" "00208224" "05520" "00208225" "05520" "00208226" "05520" "00208227" "05520" "00208228" "05520" "00208229" "05520" "00208230" "00198" "00208231" "05520" "00208232" "05356" "00208233" "05520" "00208234" "05520" "00208235" "05520" "00208236" "05520" "00208237" "05520" "00208238" "05520" "00208239" "05520" "00208240" "05520" "00208241" "05520" "00208242" "05520" "00208243" "05356" "00208244" "05520" "00208245" "05356" "00208246" "05520" "00208247" "05520" "00208248" "05356" "00208249" "05356" "00208250" "05520" "00208251" "05356" "00208252" "05356" "00208253" "05356" "00208254" "05356" "00208255" "05520" "00208256" "05520" "00208257" "05520" "00208258" "05520" "00208259" "05520" "00208260" "05520" "00208261" "05520" "00208262" "05520" "00208263" "05520" "00208264" "05520" "00208265" "05520" "00208266" "05520" "00208267" "05520" "00208268" "05520" "00208269" "05520" "00208270" "05520" "00208271" "05520" "00208272" "05520" "00208273" "05520" "00208274" "05520" "00208275" "05520" "00208276" "05520" "00208277" "05520" "00208278" "05520" "00208279" "05520" "00208280" "05520" "00208281" "05520" "00208282" "05520" "00208283" "05520" "00208284" "05520" "00208285" "05520" "00208286" "05520" "00208287" "05520" "00208288" "05520" "00208289" "00198" "00208290" "05520" "00208291" "05520" "00208292" "05520" "00208293" "05520" "00208294" "05520" "00208295" "05356" "00208296" "05520" "00208297" "05520" "00208298" "00198" "00208299" "05520" "00208300" "05520" "00208301" "05520" "00208302" "05520" "00208303" "05520" "00208304" "05520" "00208305" "05520" "00208306" "05520" "00208307" "05520" "00208308" "05520" "00208309" "05520" "00208310" "05520" "00208311" "05520" "00208312" "05520" "00208313" "05520" "00208314" "05520" "00208315" "05520" "00208316" "05520" "00208317" "05520" "00208318" "05520" "00208319" "05520" "00208320" "05520" "00208321" "05520" "00208322" "05520" "00208323" "05520" "00208324" "05520" "00208325" "05520" "00208326" "05520" "00208327" "05520" "00208328" "05520" "00208329" "05520" "00208330" "05520" "00208331" "05520" "00208332" "05520" "00208333" "05520" "00208334" "05520" "00208335" "05520" "00208336" "05520" "00208337" "05520" "00208338" "05520" "00208339" "05520" "00208340" "05520" "00208341" "05520" "00208342" "05520" "00208343" "05520" "00208344" "05520" "00208345" "05520" "00208346" "05520" "00208347" "05520" "00208348" "00198" "00208349" "05356" "00208350" "05356" "00208351" "05356" "00208352" "05520" "00208353" "05520" "00208354" "05520" "00208355" "05520" "00208356" "05520" "00208357" "05520" "00208358" "05520" "00208359" "05520" "00208360" "05520" "00208361" "05520" "00208362" "05520" "00208363" "05520" "00208364" "05520" "00208365" "05520" "00208366" "05520" "00208367" "05520" "00208368" "05520" "00208369" "05520" "00208370" "05520" "00208371" "05520" "00208372" "05520" "00208373" "05520" "00208374" "05520" "00208375" "05520" "00208376" "05520" "00208377" "05520" "00208378" "05520" "00208379" "05520" "00208380" "05520" "00208381" "05520" "00208382" "05520" "00208383" "00198" "00208384" "05520" "00208385" "05520" "00208386" "05520" "00208387" "05520" "00208388" "05520" "00208389" "05520" "00208390" "05520" "00208391" "05520" "00208392" "05520" "00208393" "05520" "00208394" "05520" "00208395" "05520" "00208396" "05520" "00208397" "05520" "00208398" "05520" "00208399" "05520" "00208400" "05520" "00208401" "05520" "00208402" "05520" "00208403" "05520" "00208404" "05520" "00208405" "05520" "00208406" "05520" "00208407" "05520" "00208408" "05520" "00208409" "05520" "00208410" "05520" "00208411" "05520" "00208412" "05520" "00208413" "05520" "00208414" "05520" "00208415" "05520" "00208416" "05520" "00208417" "05520" "00208418" "05520" "00208419" "05520" "00208420" "05520" "00208421" "05520" "00208422" "05356" "00208423" "05520" "00208424" "05520" "00208425" "05520" "00208426" "05520" "00208427" "05520" "00208428" "05356" "00208429" "05520" "00208430" "05520" "00208431" "05520" "00208432" "05520" "00208433" "05520" "00208434" "00198" "00208435" "05520" "00208436" "05520" "00208437" "05520" "00208438" "05520" "00208439" "05520" "00208440" "05520" "00208441" "05520" "00208442" "05520" "00208443" "05520" "00208444" "05520" "00208445" "05520" "00208446" "05520" "00208447" "05520" "00208448" "05520" "00208449" "05520" "00208450" "05520" "00208451" "05520" "00208452" "05520" "00208453" "05520" "00208454" "05520" "00208455" "05520" "00208456" "05356" "00208458" "05520" "00208459" "05520" "00208460" "05520" "00208461" "05520" "00208462" "05520" "00208463" "04167" "00208464" "04167" "00208465" "04167" "00208466" "04167" "00208467" "04167" "00208468" "04167" "00208469" "04167" "00208470" "04167" "00208471" "04167" "00208472" "04167" "00208473" "04167" "00208474" "04167" "00208475" "04167" "00208476" "04167" "00208477" "04167" "00208478" "04167" "00208479" "04167" "00208480" "04167" "00208481" "04167" "00208482" "04167" "00208483" "04167" "00208484" "04167" "00208485" "04167" "00208486" "04167" "00208487" "04167" "00208488" "04167" "00208489" "04167" "00208490" "04167" "00208491" "04167" "00208492" "04167" "00208493" "04167" "00208494" "04167" "00208495" "04167" "00208496" "04167" "00208497" "04167" "00208498" "04167" "00208499" "04167" "00208500" "04167" "00208501" "04167" "00208502" "04167" "00208503" "04167" "00208504" "04167" "00208505" "04167" "00208506" "04167" "00208507" "04167" "00208508" "04167" "00208509" "04167" "00208604" "04167" "00208606" "04167" "00208607" "04167" "00208608" "04167" "00208609" "04167" "00208610" "00000" "00229805" "00198" "00234405" "01185" "00245342" "00198" "00245889" "00198" "00269301" "00198" "00269538" "00841" "00271413" "00198" "00274173" "00198" "00289413" "00198" "00289424" "00198" "00292047" "00198" "00292048" "00198" "00295922" "00198" "00296868" "00198" "00301260" "00841" "00302890" "00198" "00302971" "05521" "00302973" "05521" "00303088" "05760" "00307080" "05611" "00307085" "00841" "00311033" "00198" "00315484" "00198" "00324119" "01362" "00326660" "01564" "00329009" "05802" "00332980" "01185" "00334917" "01564" "00359604" "01564" "00374225" "00198" "00374670" "00198" "00375268" "05802" "00376334" "05802" "00380788" "05802" "00397574" "05802" "00403042" "05356" "00414039" "00000" "00427793" "04270" "00433673" "06844" "00434216" "00198" "00435495" "05611" "00438294" "04270" "00438348" "04270" "00438570" "06906" "00438714" "06906" "00442782" "05618" "00449749" "00139" "00449820" "05356" "00449880" "05356" "00452065" "01185" "00455770" "00198" "00455838" "00198" "00455840" "00198" "00456496" "05356" "00459414" "05162" "00459524" "05611" "00464525" "05802" "00465220" "04270" "00466428" "05802" "00466429" "05802" "00467272" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00284, 00344, 00841, 01185, 01362, 01564, 04167, 04201, 04270, 05162, 05356, 05520, 05521, 05611, 05618, 05760, 05802, 06844, 06906 ## Count = 369 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000041532" "00284" "00054868" "01479" "Familial, autosomal dominant" "" "epilepsy and ataxia" "12y" "" "" "" "" "" "" "" "" "EA2" "cerebellar ataxia" "" "0000053276" "04201" "00073161" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068597" "00344" "00089207" "00006" "Isolated (sporadic)" "" "epilepsy of infancy with migrating focal seizures" "" "" "" "" "" "" "" "" "" "" "" "" "0000068598" "00344" "00089208" "00006" "Unknown" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000068599" "00344" "00089209" "00006" "Isolated (sporadic)" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000068600" "00344" "00089210" "00006" "Isolated (sporadic)" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000068601" "00344" "00089211" "00006" "Isolated (sporadic)" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000081846" "00198" "00103880" "00006" "Isolated (sporadic)" "" "developmental delay, progressive cerebellar atrophy, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000087176" "00198" "00110577" "00485" "Unknown" "" "microcephaly, recurrent passing hemiplegia; both grandmothers are affected by migraine; mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "0000087177" "00198" "00110582" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "0000087178" "00198" "00110583" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "0000087179" "00198" "00110585" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "0000087180" "00198" "00110587" "00485" "Unknown" "" "mental retardation" "" "" "" "" "" "" "" "" "" "" "" "" "0000087181" "00198" "00110589" "00485" "Unknown" "" "no clinical information available" "" "" "" "" "" "" "" "" "" "" "" "" "0000087182" "01362" "00110594" "00485" "Unknown" "" "passing right-sided hemisymptomatics with aphasia and headache, later on progressing loss of memory and disturbances of equilibrium; mother suffers from regular migraine attacks; twin brother shows peculiar nature, gait and speech" "" "" "" "" "" "" "" "" "" "" "" "" "0000087186" "01185" "00110614" "00485" "Unknown" "" "episodic atxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000087190" "01185" "00110645" "00485" "Unknown" "" "episodic atxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000087196" "00198" "00110682" "00485" "Unknown" "" "childhood-repeatedly tonsillitis/bronchitis; ~12 times acute hearing loss with dizziness, supected M.Menièr/M.Meulengracht; severe flatulence combined with diarrhoea since years, frequent migraine with paresthesia/hemiparesis, unsteady gait; patient claims migraine attacks associated with occurence of flatulence, hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "" "" "" "0000120971" "04167" "00148528" "00006" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000120972" "04167" "00148529" "00006" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000125494" "00198" "00152533" "01807" "Unknown" "" "Prolonged QTc interval (HP:0005184); Status epilepticus (HP:0002133)" "" "" "" "" "" "" "" "" "" "" "" "" "0000125499" "00198" "00152538" "01807" "Unknown" "" "HP:0002131 (Episodic ataxia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000129721" "00198" "00164684" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "" "0000135708" "00198" "00170846" "00006" "Isolated (sporadic)" "37y" "28y-transient neck dystonia; 30y-slurred speech, vertigo; 36y-required assistance to walk; 37y severe truncal ataxia, mild limb ataxia, eye movements mildly limited\r\non both lateral sides, lateral gaze nystagmus, speech severely slurred, ..." "27y" "" "unsteadiness of gait, clumsiness of action" "" "" "" "" "" "" "" "" "" "0000156916" "05520" "00208222" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156917" "05520" "00208231" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma/complex visual and auditory delusions/fever; PermCer status, no nystagmus, dysarthria, no ataxia, CT scan cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia; Recurrent Coma" "" "0000156918" "05520" "00208326" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Ataxia" "" "0000156919" "05520" "00208327" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156920" "05520" "00208328" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156921" "05520" "00208329" "00000" "Unknown" "" "1st hemiplegic migraine attack 4y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura" "" "0000156922" "05520" "00208330" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156923" "05520" "00208331" "00000" "Familial" "" "1st hemiplegic migraine attack duration 1st aura 30min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Cerebellar Ataxia" "" "0000156924" "05520" "00208332" "00000" "Familial" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 0y, duration aura 14, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs Somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156925" "05520" "00208333" "00000" "Familial" "" "1st hemiplegic migraine attack 24y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence; PermCer status 45y, no nystagmus, dysarthria, no ataxia, MRI cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Cerebellar Ataxia" "" "0000156926" "05520" "00208334" "00000" "Unknown" "" "1st hemiplegic migraine attack 4y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura" "" "0000156927" "05520" "00208335" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156928" "05356" "00208232" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia" "" "0000156929" "05520" "00208337" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156930" "05520" "00208338" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156931" "05520" "00208339" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156932" "05520" "00208340" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156933" "05520" "00208341" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156934" "05520" "00208342" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156935" "05520" "00208343" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156936" "05520" "00208344" "00000" "Unknown" "53y" "1st hemiplegic migraine attack 18y, duration 1st aura 20min, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4320min, 1st HMA severe; PermCer status no nystagmus, no dysarthria, ataxia, cMRI Cerebellar Vermian Atrophy" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Mental Retardation" "" "0000156937" "05520" "00208345" "00000" "Unknown" "55y" "1st hemiplegic migraine attack 11y, duration 1st aura 20,min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 2160min, 1st HMA mild; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Mental Retardation" "" "0000156938" "05520" "00208346" "00000" "Unknown" "50y" "1st hemiplegic migraine attack 25y, duration 1st aura 60min, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4320min, 1st HMA severe; PermCer status no nystagmus, no dysarthria, ataxia, cMRI Cerebellar Vermian Atrophy" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Mental Retardation" "" "0000156939" "05520" "00208233" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 0y, duration aura 14, 1st severe attack signs confusion; PermCer status nystagmus, dysarthria, ataxia, SPECT hyperperfusion controhemisph to the hemipleg" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Ataxia" "" "0000156940" "05520" "00208347" "00000" "Unknown" "36y" "1st hemiplegic migraine attack 21y, duration 1st aura 45min, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1440min, 1st HMA mild; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156941" "00198" "00208348" "00000" "Unknown" "19y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia, cMRI Cerebellar Vermian Atrophy" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; Mental Retardation" "" "0000156942" "05356" "00208349" "00000" "Unknown" "85y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000156943" "05356" "00208350" "00000" "Unknown" "78y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000156944" "05356" "00208351" "00000" "Unknown" "24y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia; Tension-type headache" "" "0000156945" "05520" "00208352" "00000" "Familial" "24y" "1st hemiplegic migraine attack 7y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156946" "05520" "00208353" "00000" "Familial" "52y" "1st hemiplegic migraine attack 44y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156947" "05520" "00208354" "00000" "Familial" "48y" "1st hemiplegic migraine attack 13y, duration 1st aura 1200min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156948" "05520" "00208355" "00000" "Familial" "25y" "1st hemiplegic migraine attack 5y, duration 1st aura 120min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156949" "05520" "00208356" "00000" "Familial" "50y" "1st hemiplegic migraine attack 12y, duration 1st aura 40min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine without Aura" "" "0000156950" "05520" "00208234" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 20y, 1st severe attack signs mild coma; PermCer status, no nystagmus, dysarthria, no ataxia, CT scan Selective atrophy of the sup. cerebellar vermis" "" "" "" "" "" "" "" "" "" "" "Coma; Migraine without Aura" "" "0000156951" "05520" "00208357" "00000" "Familial" "59y" "1st hemiplegic migraine attack 15y, duration 1st aura 20min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156952" "05520" "00208358" "00000" "Familial" "34y" "1st hemiplegic migraine attack 6y, duration 1st aura 180min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156953" "05520" "00208359" "00000" "Familial" "51y" "1st hemiplegic migraine attack 17y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000156954" "05520" "00208360" "00000" "Familial" "47y" "1st hemiplegic migraine attack 15y, duration 1st aura 720min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156955" "05520" "00208361" "00000" "Familial" "47y" "1st hemiplegic migraine attack 35y, duration 1st aura 240min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 3-7d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156956" "05520" "00208362" "00000" "Familial" "26y" "1st hemiplegic migraine attack 7y, duration 1st aura 600min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156957" "05520" "00208363" "00000" "Unknown" "56y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine without Aura; Tension-type Headache" "" "0000156958" "05520" "00208364" "00000" "Unknown" "25y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Tension-type headache" "" "0000156959" "05520" "00208365" "00000" "Unknown" "30y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine without Aura" "" "0000156960" "05520" "00208366" "00000" "Familial" "77y" "1st hemiplegic migraine attack 16y, duration 1st aura 360min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000156961" "05520" "00208235" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia, CT scan cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia; Mental Retardation" "" "0000156962" "05520" "00208367" "00000" "Familial" "23y" "1st hemiplegic migraine attack 3y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000156963" "05520" "00208368" "00000" "Familial" "38y" "1st hemiplegic migraine attack 12y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine without Aura" "" "0000156964" "05520" "00208369" "00000" "Familial" "42y" "1st hemiplegic migraine attack 4y, duration 1st aura 1200min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000156965" "05520" "00208370" "00000" "Familial" "47y" "1st hemiplegic migraine attack 7y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000156966" "05520" "00208371" "00000" "Familial" "55y" "1st hemiplegic migraine attack 5y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156967" "05520" "00208372" "00000" "Familial" "44y" "1st hemiplegic migraine attack 7y, duration 1st aura 1440min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 135min" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156968" "05520" "00208373" "00000" "Familial" "22y" "1st hemiplegic migraine attack 20y, duration 1st aura 1440min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156969" "05520" "00208374" "00000" "Unknown" "74y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura" "" "0000156970" "05520" "00208375" "00000" "Unknown" "17y" "1st hemiplegic migraine attack 12y, duration 1st aura days, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 12y, 1st severe attack signs fever; PermCer status 12y, no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine; Mental Retardation" "" "0000156971" "05520" "00208376" "00000" "Unknown" "17y" "1st hemiplegic migraine attack 10y, duration 1st aura days, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 10y, 1st severe attack signs mild coma/fever; PermCer status 10y, no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine; Mental Retardation" "" "0000156972" "05520" "00208236" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia, CT scan cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia; Recurrent Coma" "" "0000156973" "05520" "00208377" "00000" "Unknown" "54y" "1st hemiplegic migraine attack 3y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 3y, duration aura 7, 1st severe attack signs mild coma/fever; PermCer status 3y, no nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156974" "05520" "00208378" "00000" "Unknown" "54y" "1st hemiplegic migraine attack 3y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 3y, 1st severe attack signs confusion/fever; PermCer status 47y, nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156975" "05520" "00208379" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs Somnolence/confusion; PermCer status 38y, no nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156976" "05520" "00208380" "00000" "Unknown" "18y" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156977" "05520" "00208381" "00000" "Unknown" "17y" "1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156978" "05520" "00208382" "00000" "Unknown" "70y" "1st hemiplegic migraine attack 26y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156979" "00198" "00208383" "00000" "Unknown" "27y" "1st hemiplegic migraine attack 6y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Partial Seizures" "" "0000156980" "05520" "00208384" "00000" "Unknown" "36y" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156981" "05520" "00208385" "00000" "Unknown" "13y" "1st hemiplegic migraine attack 1.5y, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156982" "05520" "00208386" "00000" "Unknown" "16y" "1st hemiplegic migraine attack 13y, duration 1st aura 30mmin, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence, 1st HMA duration headache 1d" "" "" "" "" "" "" "" "" "" "" "" "" "0000156983" "05520" "00208237" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156984" "05520" "00208387" "00000" "Unknown" "78y" "1st hemiplegic migraine attack 14y, duration 1st aura 2d1wmin, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000156985" "05520" "00208388" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156986" "05520" "00208389" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156987" "05520" "00208390" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156988" "05520" "00208391" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156989" "05520" "00208392" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156990" "05520" "00208393" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156991" "05520" "00208394" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156992" "05520" "00208395" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156993" "05520" "00208396" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156994" "05520" "00208239" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000156995" "05520" "00208397" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000156996" "05520" "00208398" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000156997" "05520" "00208399" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156998" "05520" "00208400" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000156999" "05520" "00208401" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157000" "05520" "00208402" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157001" "05520" "00208403" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000157002" "05520" "00208404" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157003" "05520" "00208405" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura; Migraine without Aura" "" "0000157004" "05520" "00208406" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Migraine without Aura" "" "0000157005" "05520" "00208240" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157006" "05520" "00208407" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157007" "05520" "00208408" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157008" "05520" "00208409" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157009" "05520" "00208410" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157010" "05520" "00208411" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157011" "05520" "00208412" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157012" "05520" "00208413" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157013" "05520" "00208414" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157014" "05520" "00208415" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157015" "05520" "00208416" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157016" "05520" "00208242" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157017" "05520" "00208417" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157018" "05520" "00208418" "00000" "Unknown" "67y" "1st hemiplegic migraine attack 47y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 30y, duration aura 3, 1st severe attack signs mild coma; PermCer status 62y, nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157019" "05520" "00208419" "00000" "Unknown" "63y" "1st hemiplegic migraine attack 55y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 40y, duration aura 2, 1st severe attack signs mild coma; PermCer status 36y, nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157020" "05520" "00208420" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157021" "05520" "00208421" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157022" "05356" "00208422" "00000" "Unknown" "47y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 30y, nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157023" "05520" "00208423" "00000" "Familial" "15y" "1st hemiplegic migraine attack 15yy, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1d, 1st HMA severe; 1st severe attack 17y, 1st severe attack hemiparesis eft, 1st severe attack hemiparesis not right, 1st severe attack signs mild coma/meningism/fever; PermCer status, mild bilateral dysmetria" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157024" "05520" "00208424" "00000" "Familial" "19y" "1st hemiplegic migraine attack 13yy, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA mild; 1st severe attack 15y, duration aura 4, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs Severe coma/meningism/fever; PermCer status 13y, nystagmus" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157025" "05520" "00208425" "00000" "Familial" "12y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157026" "05520" "00208426" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157027" "05520" "00208223" "00000" "Familial" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 12y, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs mild coma/fever; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000157028" "05356" "00208243" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 40y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157029" "05520" "00208427" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157030" "05356" "00208428" "00000" "Unknown" "42y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia" "" "0000157031" "05520" "00208429" "00000" "Familial" "14y" "1st hemiplegic migraine attack 14y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence, 1st HMA duration headache days, 1st HMA severe; 1st severe attack 14y, duration aura 4, 1st severe attack signs mild coma/epileptic seizures" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157032" "05520" "00208430" "00000" "Familial" "32y" "1st hemiplegic migraine attack 27y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 18y, no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157033" "05520" "00208431" "00000" "Familial" "" "1st hemiplegic migraine attack 11y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 11y, no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157034" "05520" "00208432" "00000" "Unknown" "26y" "1st hemiplegic migraine attack 24y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 4h1d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "" "" "" "0000157035" "05520" "00208433" "00000" "Unknown" "37y" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 1-3d, 1st HMA moderate" "" "" "" "" "" "" "" "" "" "" "" "" "0000157036" "00198" "00208434" "00000" "Unknown" "5y" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence, 1st HMA severe; 1st severe attack signs confusion/mild coma/fever/epileptic seizures" "" "" "" "" "" "" "" "" "" "" "Coma" "" "0000157037" "05520" "00208435" "00000" "Familial" "54y" "1st hemiplegic migraine attack 14y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157038" "05520" "00208436" "00000" "Unknown" "32y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Migraine without Aura" "" "0000157039" "05520" "00208244" "00000" "Familial" "" "1st hemiplegic migraine attack 18y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 18y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157040" "05520" "00208437" "00000" "Unknown" "30y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; Migraine without Aura" "" "0000157041" "05520" "00208438" "00000" "Familial" "" "1st hemiplegic migraine attack 11y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000157042" "05520" "00208439" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157043" "05520" "00208440" "00000" "Unknown" "55y" "1st hemiplegic migraine attack 21y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status no nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157044" "05520" "00208441" "00000" "Unknown" "26y" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157045" "05520" "00208442" "00000" "Unknown" "26y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia, intention tremor" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157046" "05520" "00208443" "00000" "Unknown" "35y" "1st hemiplegic migraine attack 18y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157047" "05520" "00208444" "00000" "Unknown" "63y" "1st hemiplegic migraine attack 18y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157048" "05520" "00208445" "00000" "Unknown" "35y" "1st hemiplegic migraine attack 26y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157049" "05520" "00208446" "00000" "Unknown" "31y" "1st hemiplegic migraine attack 10y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157050" "05356" "00208245" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 24y, 1st severe attack signs mild coma; PermCer status 25y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157051" "05520" "00208447" "00000" "Unknown" "42y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157052" "05520" "00208448" "00000" "Unknown" "26y" "1st hemiplegic migraine attack 23y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157053" "05520" "00208449" "00000" "Familial" "38y" "1st hemiplegic migraine attack 7y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157054" "05520" "00208450" "00000" "Unknown" "35y" "1st hemiplegic migraine attack 11y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157055" "05520" "00208451" "00000" "Familial" "49y" "1st hemiplegic migraine attack 15y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157056" "05520" "00208452" "00000" "Unknown" "33y" "1st hemiplegic migraine attack 11y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157057" "05520" "00208453" "00000" "Unknown" "47y" "1st hemiplegic migraine attack 10y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, ataxia, intention tremor" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157058" "05520" "00208454" "00000" "Unknown" "16y" "1st hemiplegic migraine attack 5y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157059" "05520" "00208455" "00000" "Unknown" "46y" "1st hemiplegic migraine attack 36y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 24h; PermCer status nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine" "" "0000157060" "05356" "00208456" "00000" "Unknown" "78y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia; Cerebellar Ataxia" "" "0000157061" "05520" "00208246" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 7y, 1st severe attack signs mild coma; PermCer status 18y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine without Aura; Progressive Cerebellar Ataxia" "" "0000157063" "05520" "00208458" "00000" "Familial" "50y" "1st hemiplegic migraine attack 9y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura; Partial Seizures" "" "0000157064" "05520" "00208459" "00000" "Familial" "11y" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine without Aura" "" "0000157065" "05520" "00208460" "00000" "Familial" "15y" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157066" "05520" "00208461" "00000" "Unknown" "37y" "1st hemiplegic migraine attack 12y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence, 1st HMA severe; PermCer status" "" "" "" "" "" "" "" "" "" "" "Cerebellar Ataxia; familial hemiplegic migraine; generalized tonic-clonic seizures; Partial Seizures" "" "0000157067" "05520" "00208462" "00000" "Unknown" "" "1st hemiplegic migraine attack 5y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence, 1st HMA severe" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157068" "05520" "00208247" "00000" "Familial" "" "1st hemiplegic migraine attack 16y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 16y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine without Aura; Progressive Cerebellar Ataxia" "" "0000157069" "05356" "00208248" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 35y, 1st severe attack signs mild coma; PermCer status 30y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157070" "05356" "00208249" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 27y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157071" "05520" "00208250" "00000" "Familial" "" "1st hemiplegic migraine attack 23y, duration 1st aura 120min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 23y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157072" "05356" "00208251" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 33y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157073" "05356" "00208252" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 34y, no nystagmus, dysarthria, no ataxia, Brain MRI atrophy of the cerebellum" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157074" "05520" "00208224" "00000" "Familial" "" "1st hemiplegic migraine attack 42y, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; PermCer status" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000157075" "05356" "00208253" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157076" "05356" "00208254" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 50y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Progressive Cerebellar Ataxia" "" "0000157077" "05520" "00208255" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157078" "05520" "00208256" "00000" "Familial" "" "1st hemiplegic migraine attack 13y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157079" "05520" "00208257" "00000" "Familial" "" "1st hemiplegic migraine attack 22y, duration 1st aura 480min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 22y, 1st severe attack signs mild coma; PermCer status 40y, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157080" "05520" "00208258" "00000" "Unknown" "" "1st hemiplegic migraine attack 17y, duration 1st aura 60min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence, 1st HMA duration headache 120min; 1st severe attack 59y, duration aura 1, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs Somnolence/confusion/fever; PermCer status 60y, no nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157081" "05520" "00208259" "00000" "Unknown" "" "1st hemiplegic migraine attack 40y, duration 1st aura 2min, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status 57y, no nystagmus, dysarthria, ataxia" "" "" "" "" "" "" "" "" "" "" "Ataxia; familial hemiplegic migraine" "" "0000157082" "05520" "00208260" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157083" "05520" "00208261" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157084" "05520" "00208262" "00000" "Familial" "" "1st hemiplegic migraine attack 10y, duration 1st aura 10min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157085" "05520" "00208225" "00000" "Familial" "" "1st hemiplegic migraine attack 37y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000157086" "05520" "00208263" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia, Cerebral MRI multiple infarctions both hemispheres" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157087" "05520" "00208264" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157088" "05520" "00208265" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157089" "05520" "00208266" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157090" "05520" "00208267" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cognitive Impairment" "" "0000157091" "05520" "00208268" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia, Cerebral MRI cerebral cortical atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157092" "05520" "00208269" "00000" "Familial" "" "1st hemiplegic migraine attack duration 1st aura 30min, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157093" "05520" "00208270" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157094" "05520" "00208271" "00000" "Familial" "" "1st hemiplegic migraine attack 12y, duration 1st aura 30min, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157095" "05520" "00208272" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cognitive Impairment; Migraine with Visual Aura" "" "0000157096" "05520" "00208226" "00000" "Familial" "" "1st hemiplegic migraine attack 8y, 1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine (Uncertain Diagnosis); Migraine with Aura" "" "0000157097" "05520" "00208273" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA confusion/somnolence; 1st severe attack signs mild coma/fever; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cognitive Impairment" "" "0000157098" "05520" "00208274" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157099" "05520" "00208275" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157100" "05520" "00208276" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157101" "05520" "00208277" "00000" "Familial" "" "1st hemiplegic migraine attack 17y, 1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, dysarthria, no ataxia, Brain MRI mild cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157102" "05520" "00208278" "00000" "Familial" "" "1st hemiplegic migraine attack 9y, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157103" "05520" "00208279" "00000" "Familial" "" "1st hemiplegic migraine attack 13y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157104" "05520" "00208280" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura" "" "0000157105" "05520" "00208281" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Migraine with Aura" "" "0000157106" "05520" "00208282" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status, Cerebellar vermian atrophy" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Mental Retardation" "" "0000157107" "05520" "00208227" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine (Uncertain Diagnosis); Migraine with Aura" "" "0000157108" "05520" "00208283" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157109" "05520" "00208284" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157110" "05520" "00208285" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Progressive Cerebellar Ataxia" "" "0000157111" "05520" "00208286" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157112" "05520" "00208287" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157113" "05520" "00208288" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157114" "00198" "00208289" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Carrier" "" "0000157115" "05520" "00208290" "00000" "Familial" "" "1st hemiplegic migraine attack 12y, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157116" "05520" "00208291" "00000" "Familial" "" "1st hemiplegic migraine attack 10y, 1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157117" "05520" "00208292" "00000" "Familial" "" "1st hemiplegic migraine attack 10y, 1st HMA hemiparesis left, 1st HMA hemiparesis not right, 1st HMA no language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157118" "05520" "00208228" "00000" "Familial" "" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine (Uncertain Diagnosis); Migraine with Aura" "" "0000157119" "05520" "00208293" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157120" "05520" "00208294" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 19y, 1st severe attack signs Somnolence/confusion/fever; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Migraine with Aura" "" "0000157121" "05356" "00208295" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "Mental Retardation; Progressive Cerebellar Ataxia" "" "0000157122" "05520" "00208296" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157123" "05520" "00208297" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Middle Cerebral Artery Aneurysm" "" "0000157124" "00198" "00208298" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; PermCer status nystagmus, no dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "Nystagmus" "" "0000157125" "05520" "00208299" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157126" "05520" "00208300" "00000" "Familial" "" "1st HMA hemiparesis left, 1st HMA hemiparesis right, 1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack signs mild coma/Severe coma" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157127" "05520" "00208301" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157128" "05520" "00208302" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157129" "05520" "00208229" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157130" "05520" "00208303" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157131" "05520" "00208304" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157132" "05520" "00208306" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157133" "05520" "00208308" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157134" "05520" "00208309" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157135" "05520" "00208311" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157136" "05520" "00208312" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157137" "05520" "00208313" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157138" "05520" "00208314" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 7y, duration aura 10, 1st severe attack hemiparesis eft, 1st severe attack hemiparesis not right, 1st severe attack signs mild coma/fever; PermCer status nystagmus, dysarthria, ataxia, Brain MRI left cortical edema;R cerebral atrophy;" "" "" "" "" "" "" "" "" "" "" "Coma; familial hemiplegic migraine; Mental Retardation; Partial Seizures; Early-onset Disabling Ataxia" "" "0000157139" "05520" "00208315" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157140" "00198" "00208230" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 16y, 1st severe attack signs Severe coma/fever; PermCer status, CT scan mild cerebral edema" "" "" "" "" "" "" "" "" "" "" "Coma; Generalised Seizures" "" "0000157141" "05520" "00208316" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157142" "05520" "00208317" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157143" "05520" "00208318" "00000" "Familial" "" "1st HMA language disturbances, 1st HMA no sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157144" "05520" "00208319" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157145" "05520" "00208320" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157146" "05520" "00208321" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157147" "05520" "00208322" "00000" "Familial" "" "1st HMA language disturbances, 1st HMA sensory disturbances, 1st HMA visual disturbances, 1st HMA no confusion/somnolence; 1st severe attack 0y, duration aura 14, 1st severe attack hemiparesis not left, 1st severe attack hemiparesis right, 1st severe attack signs Somnolence; PermCer status, no nystagmus, dysarthria, no ataxia" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine; Cerebellar Ataxia" "" "0000157148" "05520" "00208323" "00000" "Familial" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "familial hemiplegic migraine" "" "0000157149" "05520" "00208324" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157150" "05520" "00208325" "00000" "Unknown" "" "1st HMA no language disturbances, 1st HMA no sensory disturbances, 1st HMA no visual disturbances, 1st HMA no confusion/somnolence" "" "" "" "" "" "" "" "" "" "" "" "" "0000157151" "04167" "00148527" "00006" "Familial, autosomal dominant" "" "" "" "" "32y" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157152" "04167" "00208463" "00006" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157153" "04167" "00208464" "00006" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157154" "04167" "00208465" "00006" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157155" "04167" "00208466" "00006" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157156" "04167" "00208467" "00006" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157157" "04167" "00208468" "00006" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157158" "04167" "00208469" "00006" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157159" "04167" "00208470" "00006" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157160" "04167" "00208471" "00006" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157161" "04167" "00208472" "00006" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157162" "04167" "00208473" "00006" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157163" "04167" "00208474" "00006" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157164" "04167" "00208475" "00006" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157165" "04167" "00208476" "00006" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157166" "04167" "00208477" "00006" "Familial, autosomal dominant" "" "" "45y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157167" "04167" "00208478" "00006" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157168" "04167" "00208479" "00006" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157169" "04167" "00208480" "00006" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157170" "04167" "00208481" "00006" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157171" "04167" "00208482" "00006" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157172" "04167" "00208483" "00006" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157173" "04167" "00208484" "00006" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157174" "04167" "00208485" "00006" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157175" "04167" "00208486" "00006" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157176" "04167" "00208487" "00006" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157177" "04167" "00208488" "00006" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157178" "04167" "00208489" "00006" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157179" "04167" "00208490" "00006" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157180" "04167" "00208491" "00006" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157181" "04167" "00208492" "00006" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157182" "04167" "00208493" "00006" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157183" "04167" "00208494" "00006" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157184" "04167" "00208495" "00006" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157185" "04167" "00208496" "00006" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157186" "04167" "00208497" "00006" "Familial, autosomal dominant" "" "" "53y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157187" "04167" "00208498" "00006" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157188" "04167" "00208499" "00006" "Familial, autosomal dominant" "" "" "57y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157189" "04167" "00208500" "00006" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157190" "04167" "00208501" "00006" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157191" "04167" "00208502" "00006" "Familial, autosomal dominant" "" "" "60y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157192" "04167" "00208503" "00006" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157193" "04167" "00208504" "00006" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157194" "04167" "00208505" "00006" "Familial, autosomal dominant" "" "" "63y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157195" "04167" "00208506" "00006" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157196" "04167" "00208507" "00006" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157197" "04167" "00208508" "00006" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157198" "04167" "00208509" "00006" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "SCA-6" "SCA" "" "0000157235" "04167" "00208604" "00006" "Familial, autosomal dominant" "83y" "severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus" "58y" "" "" "" "" "" "" "" "" "SCA-6" "spinocerebellar ataxia" "" "0000157236" "04167" "00208606" "00006" "Familial, autosomal dominant" "63y" "moderate ataxia, mild dysarthria, moderate down-beat nystagmus, diabetes mellitus; phenotype not more severe compared to heterozygous cases" "60y" "" "" "" "" "" "" "" "" "SCA-6" "spinocerebellar ataxia" "" "0000157237" "04167" "00208607" "00006" "Familial, autosomal dominant" "80y" "severe ataxia, mild dysarthria, mild down-beat nystagmus, diabetes mellitus" "54y" "" "" "" "" "" "" "" "" "SCA-6" "spinocerebellar ataxia" "" "0000157238" "04167" "00208608" "00006" "Familial, autosomal dominant" "75y" "mild ataxia, no dysarthria, noe down-beat nystagmus" "75y" "" "" "" "" "" "" "" "" "SCA-6" "spinocerebellar ataxia" "" "0000157239" "04167" "00208609" "00006" "Familial, autosomal dominant" "52y" "mild ataxia, no dysarthria, mild down-beat nystagmus; phenotype not more severe compared to heterozygous cases" ">51y" "" "" "" "" "" "" "" "" "SCA-6" "spinocerebellar ataxia" "" "0000157246" "00198" "00208622" "01164" "Unknown" "" "HP:0002076 (Migraine); HP:0012638 (Abnormality of nervous system physiology); HP:0012443 (Abnormality of brain morphology); HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000173005" "00198" "00229805" "01807" "Unknown" "" "HP:0002131 (Episodic ataxia)" "" "" "" "" "" "" "" "" "" "" "" "" "0000185289" "00198" "00245340" "01164" "Unknown" "" "HP:0002076 (Migraine)" "" "" "" "" "" "" "" "" "" "" "" "" "0000185291" "00198" "00245342" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Intellectual disability, mild (HP:0001256); Specific learning disability (HP:0001328); Tremor (HP:0001337); Low frustration tolerance (HP:0000744)" "" "" "" "" "" "" "" "" "" "" "" "" "0000185725" "00198" "00245889" "01807" "Unknown" "" "Ataxia (HP:0001251); Progressive cerebellar ataxia (HP:0002073); Cerebellar atrophy (HP:0001272); Horizontal nystagmus (HP:0000666)" "" "" "" "" "" "" "" "" "" "" "" "" "0000187420" "00198" "00248429" "01164" "Unknown" "" "HP:0010532 (Paroxysmal vertigo); HP:0002018 (Nausea); HP:0000639 (Nystagmus)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207135" "00198" "00269301" "01164" "Unknown" "" "Seizures (HP:0001250); Episodic ataxia (HP:0002131)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207369" "00841" "00269538" "03512" "Unknown" "" "Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000208021" "00198" "00271413" "01164" "Unknown" "" "Episodic ataxia (HP:0002131)" "" "" "" "" "" "" "" "" "" "" "" "" "0000209118" "00198" "00274173" "00006" "Familial, X-linked dominant" "" "mitochondrial disease criteria score 3; muscle biopsy" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000223025" "00198" "00289413" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Cerebellar hypoplasia (HP:0001321); Aplasia/Hypoplasia involving the central nervous system (HP:0002977)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223036" "00198" "00289424" "01807" "Unknown" "" "Macrocephaly (HP:0000256); Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Epicanthus (HP:0000286); Hypertelorism (HP:0000316); Muscular hypotonia (HP:0001252); Lumbar hyperlordosis (HP:0002938)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223398" "00198" "00295922" "01164" "Unknown" "" "Abnormality of coordination (HP:0011443); Gait ataxia (HP:0002066)" "" "" "" "" "" "" "" "" "" "" "" "" "0000224265" "00198" "00296868" "01164" "Unknown" "" "Abnormality of central motor function (HP:0011442); Ataxia (HP:0001251); Abnormality of the voice (HP:0001608); Speech articulation difficulties (HP:0009088)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228530" "00841" "00301260" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000229968" "00198" "00302890" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Dysarthria (HP:0001260); Scanning speech (HP:0002168); Gait ataxia (HP:0002066); Frequent falls (HP:0002359)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230054" "05521" "00302971" "00006" "Isolated (sporadic)" "" "Generalized epilepsy, childhood onset; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230056" "05521" "00302973" "00006" "Isolated (sporadic)" "" "generalized epilepsy with typical absence seizures; age onset childhood" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230172" "05760" "00303088" "00006" "Familial, autosomal dominant" "" "8w-developmental delay, possible vision problems, signs of mild intellectual deficiency in both parents; 4m-developmental delay, mild axial hypotonia, suspected cortical blindness, no persistent vision problems; walk-15m, speechfew words; MRI brain 23m-normal" "00y00m56d" "" "" "" "" "" "" "" "" "EA2" "episodic ataxia" "" "0000232898" "05611" "00307080" "00006" "Familial, autosomal recessive" "3y2m" "birth height 50.8 cm (+0.48 SD), weight 3,657 g (+0.62 SD); height 89 cm (-2.21 SD), weight 12.8 kg (-1.13 SD), OFC 48.5 cm (-1.34 SD); developmental delay; intellectual disability; speech dealy, apraxia; very active, destructive, affectionate, autistic spectrum disorder; learning disorder; no hypotonia; 4m-epilepsy, infantile spasms, controlled with vigabatrin; atrial septal defect; tapered fingers, with broad bast at MP joints tapering to the distal phalanges, scapular winging; hypertelorism, ptosis, wide mouth, full lips, small lower incisors, widely spaced teeth, webbed/short neck; dry skin; no cryptorchidism; history of aspiration; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; 4m-normal MRI/CT; duplicated collecting system right kidney" "" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232912" "00841" "00307085" "03750" "Familial, autosomal recessive" "" "HP:0001252, HP:0001298, HP:0001250" "" "00y06m" "" "" "" "" "" "" "" "EIEE42" "mitochondrial disease" "" "0000236297" "00198" "00311033" "01164" "Unknown" "" "Gait ataxia (HP:0002066); Episodic ataxia (HP:0002131)" "" "" "" "" "" "" "" "" "" "" "" "" "0000239235" "00198" "00315484" "01164" "Unknown" "" "Hemiplegia/hemiparesis (HP:0004374); Abnormality of movement (HP:0100022); Abnormality of the nervous system (HP:0000707); Dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "" "0000242700" "01362" "00324119" "01164" "Unknown" "01y" "one year old patient with tonic upward-looking" "" "" "" "" "" "" "" "" "" "" "" "" "0000245126" "01564" "00326660" "01164" "Unknown" "02y" "(+) Astigmatism,(+) Ataxia,(+) Short stature,(+) Downbeat nystagmus" "" "" "" "" "" "" "" "" "" "" "" "" "0000247213" "05802" "00329009" "01164" "Unknown" "" "(+) Autism,(+) Autistic behavior,(+) Seizure, (+) Rolando Focus in EEG" "" "" "" "" "" "" "" "" "" "" "" "" "0000251168" "01185" "00332980" "01164" "Unknown" "12y" "(+) Ataxia,(+) Vertigo,(+) Abnormality of coordination" "" "" "" "" "" "" "" "" "" "" "" "" "0000254876" "01564" "00359604" "01164" "Unknown" "00y06m" "clinical suspicion of SCA; (+) Abnormality of the philtrum,(+) Broad philtrum,(+) Muscle weakness,(+) Aplasia/Hypoplasia of fingers,(+) Abnormal ear morphology" "" "" "" "" "" "" "" "" "" "" "" "" "0000257412" "01564" "00334917" "00006" "Familial, autosomal dominant" "" "Progressive ataxia from 30 years of age (possible childhood onset) associated with myoclonus, on a background of mild intellectual impairment and sensorineural hearing impairment. MRI showing cerebellar atrophy and EEG findings of diffuse paroxysmal abnormalities consistent with encephalopathy. No migraine. Family history of epilepsy and possible ataxia affecting father and brother (now deceased)." "" "" "" "" "" "" "" "" "" "" "late onset progressive myoclonus epilepsy" "" "0000269435" "00198" "00374225" "00006" "Familial, autosomal dominant" "" "Seizures since two years of age, developmental delay and nystagmus. MRI shows cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269880" "00198" "00374670" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270480" "05802" "00375268" "01164" "Familial, autosomal dominant" "" "(+) Seizure,(+) Abnormal nervous system physiology" "" "00y09m" "" "" "" "" "" "" "" "" "" "" "0000271542" "05802" "00376334" "01164" "Unknown" "" "Strabismus, Abnormal conjugate eye movement, Delayed speech and language development, Intellectual disability, Ataxia, Abnormal cerebellum morphology, Absent speech, Abnormality of coordination, Abnormality of higher mental function, Enlarged cerebellum, Neurodevelopmental abnormality" "" "07y" "" "" "" "" "" "" "" "" "" "" "0000274641" "05802" "00380788" "00000" "Familial" "" "DD; ID; Hypotonia; seizures (Neurological)" "" "" "" "" "" "" "" "" "" "Infantile epileptic encephalopathy type 42" "" "" "0000290697" "05802" "00397574" "01164" "Familial" "06y" "Seizure, onset 9 month;" "" "" "" "" "" "" "" "" "" "" "" "" "0000305940" "00000" "00414039" "03208" "Familial, autosomal dominant" "" "episodic ataxia" "" "" "" "" "" "" "" "" "" "" "" "" "0000318767" "04270" "00427793" "00006" "Unknown" "4y" "intellectual disability; febrile seizures, generalized tonic-clonic, myoclonic, complex partial seizure, frequency 2-3/m; EEG focal spike wave; MRI brain normal; resistant to antiepileptic drugs" "6m" "" "" "" "" "" "" "" "" "" "Dravet syndrome" "" "0000324096" "06844" "00433673" "03544" "Familial, X-linked recessive" "" "intellectual disability, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000324574" "00198" "00434216" "00006" "Familial, autosomal dominant" "10y" "nystagmus; mild hypermetropia; short attention span; intellectual disability; abnormality of coordination" "" "" "" "" "" "" "" "" "" "EA2" "infantile nystagmus" "" "0000325682" "05611" "00435495" "00006" "Unknown" "17y" "see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs, not adherent; no sleep disturbances; no seizures/epilepsy; hypotonia; dystonic type episodes; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; history of vomiting; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypercalcemia, carnitine deficiency, vomiting, urinary and bowel incontinence" "" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000328198" "04270" "00438294" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001263 global developmental delay; HP:0001281 tetany" "1y10m" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328252" "04270" "00438348" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0004374 hemiplegia/hemiparesis" "2y6m" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328473" "06906" "00438570" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000328617" "06906" "00438714" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000332129" "05618" "00442782" "00006" "Unknown" "" "Muscular dystrophy, mild ataxia, maculadystrophy, myopia and hypothyroidism" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000338910" "00139" "00449749" "03544" "Isolated (sporadic)" "" "HP:0010864" "" "" "" "" "" "" "" "" "" "FHM1" "intellectual disability" "" "0000338966" "05356" "00449820" "03544" "Isolated (sporadic)" "" "HP:0002073, HP:0012444, HP:0001272" "" "" "" "" "" "" "" "" "" "FHM1" "ataxia" "" "0000339028" "05356" "00449880" "03544" "Isolated (sporadic)" "" "HP:0002073, HP:0200085, HP:0003581" "69y" "" "" "" "" "" "" "" "" "SCA6" "ataxia" "" "0000340669" "01185" "00452065" "01164" "Familial, autosomal dominant" "25y" "Gait disturbance, Vertigo, Iron deficiency anemia, Ataxia, episodic, family history (father and brother)" "" "" "" "" "" "" "" "" "" "" "" "" "0000344303" "00198" "00455770" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "DEE42" "neurogenetic diseases" "" "0000344371" "00198" "00455838" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "EA2" "neurogenetic diseases" "" "0000344373" "00198" "00455840" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "FHM1" "neurogenetic diseases" "" "0000347490" "05162" "00459414" "03544" "Isolated (sporadic)" "" "HP:0001263" "" "" "" "" "" "" "" "" "" "EA2" "developmental delay" "" "0000347601" "05611" "00459524" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0000729, HP:0000750, HP:0002007, HP:0009890" "" "" "" "" "" "" "" "" "" "EA2, DEE42" "complex neurodevelopmental disorder" "" "0000350525" "05802" "00464525" "01164" "Unknown" "02y" "Hearing impairment, Strabismus, Delayed speech and language development, Hypotonia, Global developmental delay, Delayed gross motor development, Developmental stagnation" "" "" "" "" "" "" "" "" "" "" "" "" "0000350757" "04270" "00465220" "04830" "Isolated (sporadic)" "" "" "" "04y03m" "" "p.(Gln1154Argfs*33)" "" "" "" "" "" "" "" "" "0000351792" "05802" "00466428" "04169" "Isolated (sporadic)" "26" "" "" "27" "" "" "" "" "" "" "" "" "" "" "0000352479" "00198" "00467272" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "EA2" "episodic ataxia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 493 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054820" "00054868" "1" "01479" "01479" "2015-11-30 15:53:02" "" "" "SEQ-NG" "DNA" "" "" "0000073320" "00073161" "1" "01400" "01400" "2016-06-08 16:10:25" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000089353" "00089207" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089354" "00089208" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089355" "00089209" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089356" "00089210" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089357" "00089211" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000105411" "00103880" "1" "00006" "00006" "2017-06-11 11:25:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000111013" "00110547" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111014" "00110548" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111015" "00110549" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111016" "00110550" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111017" "00110551" "1" "01354" "01354" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111018" "00110552" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111019" "00110553" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111020" "00110554" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111022" "00110556" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111023" "00110557" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111025" "00110559" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111027" "00110561" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111028" "00110562" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111029" "00110563" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111030" "00110564" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111031" "00110565" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111032" "00110566" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111033" "00110567" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111034" "00110568" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111035" "00110569" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111036" "00110570" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111037" "00110571" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111038" "00110572" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111039" "00110573" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111040" "00110574" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111041" "00110575" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111042" "00110576" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111043" "00110577" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111044" "00110578" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111045" "00110579" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111046" "00110580" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111047" "00110581" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111048" "00110582" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111049" "00110583" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111050" "00110584" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111051" "00110585" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111052" "00110586" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111053" "00110587" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111054" "00110588" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111055" "00110589" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111056" "00110590" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111057" "00110591" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111058" "00110592" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111060" "00110594" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111061" "00110595" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111062" "00110596" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111064" "00110598" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111065" "00110599" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111066" "00110600" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111068" "00110602" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111069" "00110603" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111070" "00110604" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111071" "00110605" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111073" "00110607" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111075" "00110609" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111076" "00110610" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111078" "00110612" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111079" "00110613" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111080" "00110614" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111081" "00110615" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111082" "00110616" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111083" "00110617" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111084" "00110618" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111085" "00110619" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111086" "00110620" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111087" "00110621" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111088" "00110622" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111089" "00110623" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111090" "00110624" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111091" "00110625" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111092" "00110626" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111093" "00110627" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111094" "00110628" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111095" "00110629" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111096" "00110630" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111097" "00110631" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111098" "00110632" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111099" "00110633" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111100" "00110634" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111103" "00110637" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111106" "00110640" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111107" "00110641" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111109" "00110643" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111111" "00110645" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111112" "00110646" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111113" "00110647" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111114" "00110648" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111115" "00110649" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111116" "00110650" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111117" "00110651" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111120" "00110654" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111124" "00110658" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111125" "00110659" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111126" "00110660" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111127" "00110661" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111128" "00110662" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111129" "00110663" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111131" "00110665" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111132" "00110666" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111133" "00110667" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111134" "00110668" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111135" "00110669" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111136" "00110670" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111137" "00110671" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111138" "00110672" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111139" "00110673" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111140" "00110674" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111141" "00110675" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111142" "00110676" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111143" "00110677" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111144" "00110678" "1" "01354" "01354" "2009-10-03 20:35:44" "" "" "SEQ" "DNA" "" "" "0000111145" "00110679" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111146" "00110680" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111147" "00110681" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111148" "00110682" "1" "00485" "00485" "2009-10-30 19:40:23" "00006" "2010-10-23 16:56:34" "SEQ" "DNA" "" "" "0000111149" "00110683" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000111150" "00110684" "1" "00485" "00485" "2010-10-23 16:53:28" "" "" "SEQ" "DNA" "" "" "0000111151" "00110685" "1" "00485" "00485" "2009-10-30 19:40:23" "" "" "SEQ" "DNA" "" "" "0000149383" "00148527" "1" "00006" "00006" "2018-01-05 13:14:12" "" "" "PCR" "DNA" "" "" "0000149384" "00148528" "1" "00006" "00006" "2018-01-05 13:19:59" "" "" "PCR" "DNA" "" "" "0000149385" "00148529" "1" "00006" "00006" "2018-01-05 13:24:20" "" "" "PCR" "DNA" "" "" "0000153390" "00152533" "0" "01807" "01807" "2018-02-02 19:54:25" "" "" "SEQ" "DNA" "" "" "0000153395" "00152538" "0" "01807" "01807" "2018-02-02 19:55:02" "" "" "SEQ" "DNA" "" "" "0000165550" "00164684" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000171721" "00170846" "1" "00006" "00006" "2018-07-25 13:35:58" "" "" "PCR" "DNA" "" "" "0000171722" "00170847" "1" "00006" "00006" "2018-07-25 13:47:07" "" "" "PCR" "DNA" "" "" "0000208339" "00207304" "1" "00753" "00753" "2008-06-18 23:00:08" "00753" "2011-12-21 10:05:09" "SEQ" "DNA" "" "" "0000208340" "00207305" "1" "00753" "00753" "2008-06-18 23:00:08" "00753" "2011-12-21 10:05:09" "SEQ" "DNA" "" "" "0000209269" "00208222" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2010-10-01 15:54:46" "DGGE;SEQ" "DNA" "" "" "0000209270" "00208223" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:05:09" "PCR;SEQ" "DNA" "" "" "0000209271" "00208224" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:06:52" "PCR;SEQ" "DNA" "" "" "0000209272" "00208225" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:08:10" "PCR;SEQ" "DNA" "" "" "0000209273" "00208226" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:09:58" "PCR;SEQ" "DNA" "" "" "0000209274" "00208227" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:11:33" "PCR;SEQ" "DNA" "" "" "0000209275" "00208228" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2011-12-21 10:12:56" "PCR;SEQ" "DNA" "" "" "0000209276" "00208229" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2008-06-18 23:00:08" "PCR;SEQ" "DNA" "" "" "0000209277" "00208230" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2008-06-18 23:00:08" "PCR;SEQ" "DNA" "" "" "0000209278" "00208231" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2008-06-18 23:00:08" "PCR;SEQ" "DNA" "" "" "0000209279" "00208232" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2008-06-18 23:00:08" "PCR;SEQ" "DNA" "" "" "0000209280" "00208233" "1" "00000" "00006" "2008-06-18 23:00:08" "00006" "2008-06-18 23:00:08" "PCR;SEQ" "DNA" "" "" "0000209281" 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"0000209554" "00208507" "1" "00006" "00006" "2018-12-09 17:33:40" "" "" "PCR" "DNA" "" "" "0000209555" "00208508" "1" "00006" "00006" "2018-12-09 17:33:40" "" "" "PCR" "DNA" "" "" "0000209556" "00208509" "1" "00006" "00006" "2018-12-09 17:33:40" "" "" "PCR" "DNA" "" "" "0000209654" "00208604" "1" "00006" "00006" "2018-12-11 21:38:19" "" "" "PCR" "DNA" "" "" "0000209655" "00208606" "1" "00006" "00006" "2018-12-11 21:54:25" "" "" "PCR" "DNA" "" "" "0000209656" "00208607" "1" "00006" "00006" "2018-12-11 22:00:21" "" "" "PCR" "DNA" "" "" "0000209657" "00208608" "1" "00006" "00006" "2018-12-11 22:13:14" "" "" "PCR" "DNA" "" "" "0000209658" "00208609" "1" "00006" "00006" "2018-12-11 22:32:00" "" "" "PCR" "DNA" "" "" "0000209659" "00208610" "1" "00006" "00006" "2018-12-11 22:36:34" "" "" "PCR" "DNA" "" "" "0000209671" "00208622" "1" "01164" "01164" "2018-12-12 12:06:11" "" "" "SEQ-NG" "DNA" "" "" "0000230897" "00229805" "1" "01807" "01807" "2019-04-11 10:10:34" "" "" "SEQ" "DNA" "" "" "0000235508" "00234405" "1" "01741" "01741" "2019-05-16 15:18:59" "" "" "SEQ" "DNA" "" "" "0000246452" "00245340" "1" "01164" "01164" "2019-07-03 09:48:55" "" "" "SEQ-NG" "DNA" "" "" "0000246454" "00245342" "1" "01807" "01807" "2019-07-03 09:48:59" "" "" "SEQ" "DNA" "" "" "0000247001" "00245889" "1" "01807" "01807" "2019-07-11 09:47:54" "" "" "SEQ" "DNA" "" "" "0000249533" "00248429" "1" "01164" "01164" "2019-07-23 18:26:20" "" "" "SEQ-NG-S" "DNA" "" "" "0000270431" "00269301" "1" "01164" "01164" "2019-11-11 16:39:35" "" "" "SEQ-NG-S" "DNA" "" "" "0000270692" "00269538" "1" "03512" "03512" "2019-11-29 12:01:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000272564" "00271413" "1" "01164" "01164" "2019-12-19 11:56:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000275328" "00274173" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290583" "00289413" "1" "01164" "01164" "2020-03-09 11:33:16" "" "" "SEQ-NG-S" "DNA" "" "" "0000290594" "00289424" "1" "01807" "01807" "2020-03-09 11:34:04" "" "" "SEQ" "DNA" "" "" "0000293215" "00292047" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293216" "00292048" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297094" "00295922" "1" "01164" "01164" "2020-03-30 10:44:12" "" "" "SEQ-NG-S" "DNA" "" "" "0000297978" "00296868" "1" "01164" "01164" "2020-04-14 14:30:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000302383" "00301260" "1" "03512" "03512" "2020-05-11 20:41:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000304016" "00302890" "1" "01164" "01164" "2020-06-03 15:08:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000304096" "00302971" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304098" "00302973" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304213" "00303088" "1" "00006" "00006" "2020-06-05 19:03:21" "" "" "SEQ" "DNA" "" "" "0000308222" "00307080" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308227" "00307085" "1" "03750" "03750" "2020-07-30 18:30:33" "03750" "2020-07-30 19:35:25" "SEQ-NG" "DNA" "" "WES" "0000312184" "00311033" "1" "01164" "01164" "2020-09-14 10:32:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000316661" "00315484" "1" "01164" "01164" "2020-10-26 16:51:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000325308" "00324119" "1" "01164" "01164" "2020-12-01 11:48:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000327874" "00326660" "1" "01164" "01164" "2021-01-13 13:16:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000330226" "00329009" "1" "01164" "01164" "2021-02-02 16:51:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000334204" "00332980" "1" "01164" "01164" "2021-02-23 13:30:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000336147" "00334917" "1" "03286" "03286" "2021-03-02 13:18:57" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" "0000360834" "00359604" "1" "01164" "01164" "2021-03-30 15:26:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000375419" "00374225" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375864" "00374670" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376463" "00375268" "1" "01164" "01164" "2021-06-02 16:49:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000377530" "00376334" "1" "01164" "01164" "2021-06-21 10:47:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000382002" "00380788" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000398814" "00397574" "1" "01164" "01164" "2021-12-24 10:02:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000404283" "00403042" "1" "01741" "01741" "2022-02-16 10:56:27" "" "" "SEQ-NG" "DNA" "" "" "0000415318" "00414039" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000429116" "00427793" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000435131" "00433673" "1" "03544" "03544" "2023-03-13 05:57:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000435684" "00434216" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000436974" "00435495" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000439776" "00438294" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439830" "00438348" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440052" "00438570" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440196" "00438714" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000444266" "00442782" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000451345" "00449749" "1" "03544" "03544" "2024-05-10 11:18:37" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000451415" "00449820" "1" "03544" "03544" "2024-05-16 10:15:41" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000451476" "00449880" "1" "03544" "03544" "2024-05-23 08:24:23" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000453667" "00452065" "1" "01164" "01164" "2024-07-08 16:10:31" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000457386" "00455770" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000457454" "00455838" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000457456" "00455840" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000458113" "00456496" "1" "03544" "03544" "2024-10-28 07:07:34" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000461037" "00459414" "1" "03544" "03544" "2024-12-27 10:27:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000461150" "00459524" "1" "03544" "03544" "2025-01-07 06:15:51" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466163" "00464525" "1" "01164" "01164" "2025-03-21 15:58:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466870" "00465220" "1" "04830" "04830" "2025-04-15 13:51:54" "" "" "?" 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"0000209420" "CACNA1A" "0000209421" "CACNA1A" "0000209422" "CACNA1A" "0000209423" "CACNA1A" "0000209424" "CACNA1A" "0000209425" "CACNA1A" "0000209426" "CACNA1A" "0000209427" "CACNA1A" "0000209428" "CACNA1A" "0000209429" "CACNA1A" "0000209430" "CACNA1A" "0000209431" "CACNA1A" "0000209432" "CACNA1A" "0000209433" "CACNA1A" "0000209434" "CACNA1A" "0000209435" "CACNA1A" "0000209436" "CACNA1A" "0000209437" "CACNA1A" "0000209438" "CACNA1A" "0000209439" "CACNA1A" "0000209440" "CACNA1A" "0000209441" "CACNA1A" "0000209442" "CACNA1A" "0000209443" "CACNA1A" "0000209444" "CACNA1A" "0000209445" "CACNA1A" "0000209446" "CACNA1A" "0000209447" "CACNA1A" "0000209448" "CACNA1A" "0000209449" "CACNA1A" "0000209450" "CACNA1A" "0000209451" "CACNA1A" "0000209452" "CACNA1A" "0000209453" "CACNA1A" "0000209454" "CACNA1A" "0000209455" "CACNA1A" "0000209456" "CACNA1A" "0000209457" "CACNA1A" "0000209458" "CACNA1A" "0000209459" "CACNA1A" "0000209460" "CACNA1A" "0000209461" "CACNA1A" "0000209462" "CACNA1A" 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"0000209507" "CACNA1A" "0000209508" "CACNA1A" "0000209509" "CACNA1A" "0000209510" "CACNA1A" "0000209511" "CACNA1A" "0000209512" "CACNA1A" "0000209513" "CACNA1A" "0000209514" "CACNA1A" "0000209515" "CACNA1A" "0000209516" "CACNA1A" "0000209517" "CACNA1A" "0000209518" "CACNA1A" "0000209519" "CACNA1A" "0000209520" "CACNA1A" "0000209521" "CACNA1A" "0000209522" "CACNA1A" "0000209523" "CACNA1A" "0000209524" "CACNA1A" "0000209525" "CACNA1A" "0000209526" "CACNA1A" "0000209527" "CACNA1A" "0000209528" "CACNA1A" "0000209529" "CACNA1A" "0000209530" "CACNA1A" "0000209531" "CACNA1A" "0000209532" "CACNA1A" "0000209533" "CACNA1A" "0000209534" "CACNA1A" "0000209535" "CACNA1A" "0000209536" "CACNA1A" "0000209537" "CACNA1A" "0000209538" "CACNA1A" "0000209539" "CACNA1A" "0000209540" "CACNA1A" "0000209541" "CACNA1A" "0000209542" "CACNA1A" "0000209543" "CACNA1A" "0000209544" "CACNA1A" "0000209545" "CACNA1A" "0000209546" "CACNA1A" "0000209547" "CACNA1A" "0000209548" "CACNA1A" "0000209549" "CACNA1A" "0000209550" "CACNA1A" "0000209551" "CACNA1A" "0000209552" "CACNA1A" "0000209553" "CACNA1A" "0000209554" "CACNA1A" "0000209555" "CACNA1A" "0000209556" "CACNA1A" "0000209654" "CACNA1A" "0000209655" "CACNA1A" "0000209656" "CACNA1A" "0000209657" "CACNA1A" "0000209658" "CACNA1A" "0000209659" "CACNA1A" "0000235508" "CACNA1A" "0000275328" "CACNA1A" "0000304096" "CACNA1A" "0000304098" "CACNA1A" "0000308222" "MAPK1" "0000325308" "CACNA1A" "0000327874" "CACNA1A" "0000330226" "CACNA1A" "0000334204" "CACNA1A" "0000360834" "CACNA1A" "0000375419" "BUB1B" "0000375864" "CACNA1A" "0000376463" "CACNA1A" "0000377530" "CACNA1A" "0000398814" "CACNA1A" "0000404283" "CACNA1A" "0000453667" "CACNA1A" "0000466163" "CACNA1A" "0000466870" "CACNA1A" "0000468091" "CACNA1A" "0000468092" "CACNA1A" ## 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 = 1089 "{{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}}" "0000084836" "1" "90" "19" "13339572" "13339572" "subst" "0" "01479" "CACNA1A_000166" "g.13339572G>A" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "yes" "" "0" "" "" "g.13228758G>A" "" "pathogenic" "" "0000116956" "11" "50" "19" "13319749" "13319749" "subst" "2.94148E-5" "01400" "CACNA1A_000139" "g.13319749G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13208935G>A" "" "VUS" "" "0000147290" "0" "90" "19" "13566019" "13566019" "subst" "0" "00006" "CACNA1A_000274" "g.13566019C>G" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.13455205C>G" "" "pathogenic" "" "0000147291" "0" "50" "19" "13476262" "13476262" "subst" "0" "00006" "CACNA1A_000004" "g.13476262G>A" "" "" "" "" "father unavailable" "Germline/De novo (untested)" "" "rs121908225" "0" "" "" "g.13365448G>A" "" "VUS" "" "0000147292" "0" "90" "19" "13414398" "13414398" "subst" "0" "00006" "CACNA1A_000226" "g.13414398C>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.13303584C>T" "" "pathogenic" "" "0000147293" "21" "90" "19" "13414398" "13414398" "subst" "0" "00006" "CACNA1A_000226" "g.13414398C>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "mosaic mother" "Germline" "" "" "0" "" "" "g.13303584C>T" "" "pathogenic" "" "0000147294" "0" "90" "19" "13368235" "13368235" "subst" "0" "00006" "CACNA1A_000184" "g.13368235C>A" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "NM_023035.2:c.4531G>T" "" "De novo" "-" "" "0" "" "" "g.13257421C>A" "" "pathogenic" "" "0000170830" "1" "90" "19" "13346480" "13346480" "subst" "0" "00006" "CACNA1A_000174" "g.13346480C>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "5015G>C (R1672P)" "" "De novo" "" "" "0" "" "" "g.13235666C>G" "" "pathogenic" "" "0000178001" "0" "10" "19" "13617115" "13617115" "subst" "0" "01354" "CACNA1A_000278" "g.13617115T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13506301T>G" "" "benign" "" "0000178002" "0" "10" "19" "13482558" "13482558" "subst" "0" "01354" "CACNA1A_000002" "g.13482558C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "benign" "" "0000178003" "0" "10" "19" "13387904" "13387904" "subst" "0.195237" "01354" "CACNA1A_000029" "g.13387904A>G" "" "" "" "Phe1288Phe" "" "Germline" "" "rs16030" "0" "" "" "g.13277090A>G" "" "benign" "" "0000178004" "0" "10" "19" "13387904" "13387904" "subst" "0.195237" "00485" "CACNA1A_000029" "g.13387904A>G" "" "" "" "Phe1288Phe" "" "Germline" "" "" "0" "" "" "g.13277090A>G" "" "benign" "" "0000178005" "0" "10" "19" "13387901" "13387901" "subst" "0" "01354" "CACNA1A_000200" "g.13387901A>G" "" "" "" "" "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.13277087A>G" "" "benign" "" "0000178006" "0" "10" "19" "13386860" "13386860" "subst" "0" "01354" "CACNA1A_000068" "g.13386860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13276046C>T" "" "benign" "" "0000178007" "0" "10" "19" "13386860" "13386860" "subst" "0" "01354" "CACNA1A_000068" "g.13386860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13276046C>T" "" "benign" "" "0000178008" "0" "10" "19" "13386841" "13386841" "subst" "0" "01354" "CACNA1A_000067" "g.13386841C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13276027C>T" "" "benign" "" "0000178011" "0" "10" "19" "13373477" "13373477" "subst" "0" "00485" "CACNA1A_000069" "g.13373477A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13262663A>G" "" "benign" "" "0000178012" "0" "10" "19" "13373477" "13373477" "subst" "0" "01354" "CACNA1A_000069" "g.13373477A>G" "" "" "" "" "" "Germline" "" "rs16031" "0" "" "" "g.13262663A>G" "" "benign" "" "0000178013" "0" "10" "19" "13482554" "13482554" "subst" "0.0103272" "01354" "CACNA1A_000003" "g.13482554C>T" "" "" "" "p.Thr193Thr" "" "Germline" "" "rs41276894" "0" "" "" "g.13371740C>T" "" "benign" "" "0000178016" "0" "10" "19" "13370648" "13370648" "subst" "0" "01354" "CACNA1A_000070" "g.13370648C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13259834C>T" "" "benign" "" "0000178017" "0" "10" "19" "13370596" "13370596" "subst" "0" "01354" "CACNA1A_000071" "g.13370596G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13259782G>C" "" "benign" "" "0000178019" "0" "10" "19" "13368131" "13368131" "subst" "0.00158153" "00485" "CACNA1A_000183" "g.13368131T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13257317T>C" "" "benign" "" "0000178021" "0" "55" "19" "13366032" "13366032" "subst" "0.00184291" "00485" "CACNA1A_000095" "g.13366032G>A" "" "" "" "Thr1545Thr" "unclassified variant" "Germline" "" "" "0" "" "" "g.13255218G>A" "" "VUS" "" "0000178022" "0" "55" "19" "13366032" "13366032" "subst" "0.00184291" "00485" "CACNA1A_000095" "g.13366032G>A" "" "" "" "Thr1545Thr" "unclassified variant" "Germline" "" "" "0" "" "" "g.13255218G>A" "" "VUS" "" "0000178023" "0" "10" "19" "13366032" "13366032" "subst" "0.00184291" "01354" "CACNA1A_000095" "g.13366032G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13255218G>A" "" "benign" "" "0000178024" "0" "10" "19" "13482554" "13482554" "subst" "0.0103272" "00485" "CACNA1A_000003" "g.13482554C>T" "" "" "" "p.Thr193Thr" "" "Germline" "" "" "0" "" "" "g.13371740C>T" "" "benign" "" "0000178025" "0" "10" "19" "13364012" "13364012" "subst" "0" "01354" "CACNA1A_000072" "g.13364012C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13253198C>T" "" "benign" "" "0000178026" "0" "10" "19" "13365857" "13365857" "subst" "0" "01354" "CACNA1A_000094" "g.13365857C>A" "" "" "" "" "" "Germline" "" "rs16033" "0" "" "" "g.13255043C>A" "" "benign" "" "0000178027" "0" "10" "19" "13365857" "13365857" "subst" "0" "00485" "CACNA1A_000094" "g.13365857C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13255043C>A" "" "benign" "" "0000178028" "0" "10" "19" "13356150" "13356150" "subst" "0" "01354" "CACNA1A_000073" "g.13356150T>G" "" "" "" "" "" "Germline" "" "rs16035" "0" "" "" "g.13245336T>G" "" "benign" "" "0000178029" "0" "10" "19" "13356150" "13356150" "subst" "0" "00485" "CACNA1A_000073" "g.13356150T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13245336T>G" "" "benign" "" "0000178030" "0" "10" "19" "13356150" "13356150" "subst" "0" "01354" "CACNA1A_000073" "g.13356150T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13245336T>G" "" "benign" "" "0000178031" "0" "10" "19" "13355900" "13355900" "subst" "0" "01354" "CACNA1A_000074" "g.13355900T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13245086T>G" "" "benign" "" "0000178034" "0" "10" "19" "13346408" "13346408" "subst" "0.00196769" "01354" "CACNA1A_000037" "g.13346408C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13235594C>T" "" "benign" "" "0000178036" "0" "90" "19" "0" "0" "" "0" "00485" "CACNA1A_000000" "g.?" "" "" "" "5074delT (Pro1692LeufsX)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000178040" "0" "55" "19" "13345984" "13345984" "subst" "0.000178146" "00485" "CACNA1A_000173" "g.13345984C>T" "" "" "" "" "unclassified variant; introduces potential splice acceptor site (no cDNA analysis done)" "Germline" "" "" "0" "" "" "g.13235170C>T" "" "VUS" "" "0000178041" "0" "10" "19" "13345657" "13345657" "subst" "0" "01354" "CACNA1A_000075" "g.13345657C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13234843C>A" "" "benign" "" "0000178042" "0" "10" "19" "13342775" "13342775" "subst" "0" "01354" "CACNA1A_000076" "g.13342775G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13231961G>A" "" "benign" "" "0000178043" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "01354" "CACNA1A_000038" "g.13341037G>A" "" "" "" "" "" "Germline" "" "rs16042" "0" "" "" "g.13230223G>A" "" "benign" "" "0000178044" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "00485" "CACNA1A_000038" "g.13341037G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13230223G>A" "" "benign" "" "0000178045" "0" "55" "19" "13341036" "13341036" "subst" "0" "00485" "CACNA1A_000171" "g.13341036C>T" "" "" "" "" "unclassified variant; Alamut-changes splice-site (no cDNA analysis done)" "Germline" "" "" "0" "" "" "g.13230222C>T" "" "VUS" "" "0000178046" "0" "10" "19" "13482521" "13482521" "subst" "0" "00485" "CACNA1A_000266" "g.13482521C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13371707C>T" "" "benign" "" "0000178047" "0" "10" "19" "13341058" "13341058" "subst" "0.0146654" "01354" "CACNA1A_000077" "g.13341058G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13230244G>A" "" "benign" "" "0000178048" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "01354" "CACNA1A_000038" "g.13341037G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13230223G>A" "" "benign" "" "0000178050" "0" "10" "19" "13339673" "13339673" "subst" "0" "01354" "CACNA1A_000078" "g.13339673G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13228859G>A" "" "benign" "" "0000178051" "0" "90" "19" "0" "0" "" "0" "00485" "CACNA1A_000000" "g.?" "" "" "" "5623delG (Leu1876fsX)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000178052" "0" "10" "19" "13335432" "13335432" "subst" "0.529751" "00485" "CACNA1A_000079" "g.13335432G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13224618G>A" "" "benign" "" "0000178053" "0" "10" "19" "13335432" "13335432" "subst" "0.529751" "01354" "CACNA1A_000079" "g.13335432G>A" "" "" "" "" "" "Germline" "" "rs3816027" "0" "" "" "g.13224618G>A" "" "benign" "" "0000178054" "0" "10" "19" "13325497" "13325497" "subst" "0" "01354" "CACNA1A_000080" "g.13325497T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13214683T>C" "" "benign" "" "0000178055" "0" "10" "19" "13325412" "13325412" "subst" "1.22357E-5" "01354" "CACNA1A_000158" "g.13325412G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13214598G>A" "" "benign" "" "0000178056" "0" "10" "19" "13325229" "13325229" "subst" "0" "01354" "CACNA1A_000081" "g.13325229G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13214415G>C" "" "benign" "" "0000178058" "0" "10" "19" "13323124" "13323124" "subst" "0" "01354" "CACNA1A_000082" "g.13323124T>G" "" "" "" "" "" "Germline" "" "rs16048" "0" "" "" "g.13212310T>G" "" "benign" "" "0000178059" "0" "10" "19" "13323124" "13323124" "subst" "0" "01354" "CACNA1A_000082" "g.13323124T>G" "" "" "" "" "" "Germline" "" "rs16048" "0" "" "" "g.13212310T>G" "" "benign" "" "0000178060" "0" "10" "19" "13322848" "13322848" "subst" "0" "01354" "CACNA1A_000083" "g.13322848T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13212034T>G" "" "benign" "" "0000178061" "0" "10" "19" "13322825" "13322825" "dup" "0" "01354" "CACNA1A_000084" "g.13322825dup" "" "" "" "dupC" "" "Germline" "" "" "0" "" "" "g.13212011dup" "" "benign" "" "0000178062" "0" "10" "19" "13320002" "13320002" "subst" "0" "01354" "CACNA1A_000085" "g.13320002C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13209188C>G" "" "benign" "" "0000178063" "0" "10" "19" "13319989" "13319989" "subst" "0" "01354" "CACNA1A_000086" "g.13319989T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13209175T>C" "" "benign" "" "0000178064" "0" "10" "19" "13319693" "13319693" "subst" "0" "01354" "CACNA1A_000046" "g.13319693A>G" "" "" "" "His2220His" "" "Germline" "" "rs16051" "0" "" "" "g.13208879A>G" "" "benign" "" "0000178065" "0" "10" "19" "13319693" "13319693" "subst" "0" "00485" "CACNA1A_000046" "g.13319693A>G" "" "" "" "His2220His" "" "Germline" "" "" "0" "" "" "g.13208879A>G" "" "benign" "" "0000178066" "0" "10" "19" "0" "0" "" "0" "01354" "CACNA1A_000000" "g.?" "" "" "" "c.6663T>C (=)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000178067" "0" "10" "19" "13318922" "13318922" "subst" "0" "00485" "CACNA1A_000134" "g.13318922C>T" "" "" "" "" "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.13208108C>T" "" "benign" "" "0000178068" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "01354" "CACNA1A_000005" "g.13470522T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13359708T>C" "" "benign" "" "0000178069" "0" "10" "19" "13318811" "13318811" "subst" "0.049794" "01354" "CACNA1A_000048" "g.13318811C>T" "" "" "" "c.6789+49G>A" "" "Germline" "" "" "0" "" "" "g.13207997C>T" "" "benign" "" "0000178070" "0" "10" "19" "0" "0" "" "0" "00485" "CACNA1A_000000" "g.?" "" "" "" "6840G>A (Pro2280Pro)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000178071" "1" "10" "19" "13318707" "13318712" "del" "0" "00485" "CACNA1A_000088" "g.13318707_13318712del" "" "" "" "6939CAG[11]" "" "Germline" "" "" "0" "" "" "g.13207893_13207898del" "" "benign" "" "0000178072" "2" "10" "19" "13318710" "13318712" "del" "0" "00485" "CACNA1A_000087" "g.13318710_13318712del" "" "" "" "6939CAG[12]" "" "Germline" "" "" "0" "" "" "g.13207896_13207898del" "" "benign" "" "0000178073" "0" "10" "19" "13318316" "13318316" "subst" "0" "00485" "CACNA1A_000123" "g.13318316G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13207502G>A" "" "benign" "" "0000178074" "0" "55" "19" "13317499" "13317501" "del" "0" "00485" "CACNA1A_000065" "g.13317499_13317501del" "" "" "" "7524+634_636delTAA" "unclassified variant" "Germline" "" "" "0" "" "" "g.13206685_13206687del" "" "VUS" "" "0000178075" "0" "55" "19" "13317499" "13317501" "del" "0" "01354" "CACNA1A_000065" "g.13317499_13317501del" "" "" "" "7524+634_636delTAA" "" "Germline" "" "rs16016" "0" "" "" "g.13206685_13206687del" "" "VUS" "" "0000178076" "0" "55" "19" "13317499" "13317501" "del" "0" "00485" "CACNA1A_000065" "g.13317499_13317501del" ">0.01" "" "" "7524+634_636delTAA" "unclassified variant" "Germline" "" "" "0" "" "" "g.13206685_13206687del" "" "VUS" "" "0000178077" "0" "55" "19" "13317491" "13317492" "del" "0" "00485" "CACNA1A_000066" "g.13317491_13317492del" "" "" "" "7524+635_636delAA" "unclassified variant" "Germline" "" "" "0" "" "" "g.13206677_13206678del" "" "VUS" "" "0000178078" "0" "10" "19" "13318220" "13318220" "subst" "0" "00485" "CACNA1A_000120" "g.13318220G>A" "" "" "" "7434C>T (Tyr2478Tyr)" "" "Germline" "" "" "0" "" "" "g.13207406G>A" "" "benign" "" "0000178079" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "01354" "CACNA1A_000005" "g.13470522T>C" "" "" "" "" "" "Germline" "" "rs1606" "0" "" "" "g.13359708T>C" "" "benign" "" "0000178080" "0" "10" "19" "13318007" "13318007" "subst" "0" "00485" "CACNA1A_000115" "g.13318007T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13207193T>A" "" "benign" "" "0000178081" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "00485" "CACNA1A_000005" "g.13470522T>C" "" "" "" "Glu292Glu" "" "Germline" "" "" "0" "" "" "g.13359708T>C" "" "benign" "" "0000178082" "0" "10" "19" "13470316" "13470316" "subst" "0" "01354" "CACNA1A_000006" "g.13470316C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13359502C>T" "" "benign" "" "0000178083" "0" "10" "19" "13617107" "13617107" "subst" "0" "01354" "CACNA1A_000277" "g.13617107G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13506293G>A" "" "benign" "" "0000178084" "0" "10" "19" "13445407" "13445407" "subst" "0" "01354" "CACNA1A_000257" "g.13445407T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334593T>G" "" "benign" "" "0000178085" "0" "10" "19" "13445403" "13445403" "subst" "0" "01354" "CACNA1A_000256" "g.13445403G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334589G>T" "" "benign" "" "0000178086" "0" "10" "19" "13445401" "13445401" "subst" "0" "01354" "CACNA1A_000255" "g.13445401G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334587G>T" "" "benign" "" "0000178087" "0" "10" "19" "13445395" "13445395" "subst" "0" "01354" "CACNA1A_000254" "g.13445395T>G" "" "" "" "" "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.13334581T>G" "" "benign" "" "0000178088" "0" "10" "19" "13445375" "13445375" "subst" "0" "01354" "CACNA1A_000253" "g.13445375G>T" "" "" "" "" "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.13334561G>T" "" "benign" "" "0000178089" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "01354" "CACNA1A_000007" "g.13445208C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334394C>T" "" "benign" "" "0000178090" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "01354" "CACNA1A_000007" "g.13445208C>T" "" "" "" "" "" "Germline" "" "rs2248069" "0" "" "" "g.13334394C>T" "" "benign" "" "0000178091" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "00485" "CACNA1A_000007" "g.13445208C>T" "" "" "" "Glu394Glu" "" "Germline" "" "" "0" "" "" "g.13334394C>T" "" "benign" "" "0000178092" "0" "10" "19" "13445144" "13445144" "subst" "0.68912" "01354" "CACNA1A_000008" "g.13445144C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334330C>T" "" "benign" "" "0000178093" "0" "10" "19" "13445144" "13445144" "subst" "0.68912" "01354" "CACNA1A_000008" "g.13445144C>T" "" "" "" "" "" "Germline" "" "rs2306348" "0" "" "" "g.13334330C>T" "" "benign" "" "0000178094" "0" "10" "19" "13617112" "13617114" "dup" "0" "01354" "CACNA1A_000001" "g.13617112_13617114dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13506298_13506300dup" "" "benign" "" "0000178095" "0" "10" "19" "13445144" "13445144" "subst" "0.68912" "00485" "CACNA1A_000008" "g.13445144C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13334330C>T" "" "benign" "" "0000178096" "0" "10" "19" "13443770" "13443770" "subst" "0.819558" "01354" "CACNA1A_000009" "g.13443770T>C" "" "" "" "" "" "Germline" "" "rs16008" "0" "" "" "g.13332956T>C" "" "benign" "" "0000178097" "0" "10" "19" "13443770" "13443770" "subst" "0.819558" "00485" "CACNA1A_000009" "g.13443770T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13332956T>C" "" "benign" "" "0000178098" "0" "10" "19" "13443770" "13443770" "subst" "0" "01354" "CACNA1A_000251" "g.13443770C>T" "" "" "" "" "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.13332956C>T" "" "benign" "" "0000178099" "0" "10" "19" "13443612" "13443612" "subst" "0" "01354" "CACNA1A_000249" "g.13443612C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13332798C>T" "" "benign" "" "0000178100" "0" "55" "19" "13441051" "13441051" "subst" "0.00221171" "00485" "CACNA1A_000245" "g.13441051G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.13330237G>A" "" "VUS" "" "0000178101" "0" "55" "19" "13441051" "13441051" "subst" "0.00221171" "00485" "CACNA1A_000245" "g.13441051G>A" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.13330237G>A" "" "VUS" "" "0000178102" "0" "10" "19" "13440986" "13440986" "dup" "0" "01354" "CACNA1A_000244" "g.13440986dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13330172dup" "" "benign" "" "0000178103" "0" "10" "19" "13440982" "13440982" "subst" "0" "01354" "CACNA1A_000243" "g.13440982C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13330168C>T" "" "benign" "" "0000178104" "0" "10" "19" "13428124" "13428124" "subst" "0.00455098" "01354" "CACNA1A_000010" "g.13428124C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13317310C>T" "" "benign" "" "0000178105" "0" "10" "19" "13616693" "13616693" "subst" "0" "01354" "CACNA1A_000276" "g.13616693C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13505879C>T" "" "benign" "" "0000178106" "0" "10" "19" "13428124" "13428124" "subst" "0.00455098" "00485" "CACNA1A_000010" "g.13428124C>T" "" "" "" "" "" "Germline" "" "rs41276886" "0" "" "" "g.13317310C>T" "" "benign" "" "0000178107" "0" "55" "19" "13428113" "13428113" "subst" "0.00021581" "00485" "CACNA1A_000242" "g.13428113G>A" "" "" "" "Ser457Ser" "unclassified variant" "Germline" "" "" "0" "" "" "g.13317299G>A" "" "VUS" "" "0000178108" "0" "55" "19" "13428113" "13428113" "subst" "0.00021581" "00485" "CACNA1A_000242" "g.13428113G>A" "" "" "" "Ser457Ser" "unclassified variant" "Germline" "" "" "0" "" "" "g.13317299G>A" "" "VUS" "" "0000178109" "0" "55" "19" "13428113" "13428113" "subst" "0.00021581" "00485" "CACNA1A_000242" "g.13428113G>A" "" "" "" "Ser457Ser" "unclassified variant" "Germline" "" "" "0" "" "" "g.13317299G>A" "" "VUS" "" "0000178110" "0" "55" "19" "13428113" "13428113" "subst" "0.00021581" "00485" "CACNA1A_000242" "g.13428113G>A" "" "" "" "Ser457Ser" "unclassified variant" "Germline" "" "" "0" "" "" "g.13317299G>A" "" "VUS" "" "0000178111" "0" "10" "19" "13427963" "13427963" "subst" "0.00257231" "00485" "CACNA1A_000241" "g.13427963A>G" "" "" "" "Val507Val" "" "Germline" "" "rs16009" "0" "" "" "g.13317149A>G" "" "benign" "" "0000178112" "0" "55" "19" "13423528" "13423528" "subst" "0.00130896" "00485" "CACNA1A_000238" "g.13423528C>T" "" "" "" "Gly542Gly" "unclassified variant" "Germline" "" "" "0" "" "" "g.13312714C>T" "" "VUS" "" "0000178113" "0" "55" "19" "13423528" "13423528" "subst" "0.00130896" "00485" "CACNA1A_000238" "g.13423528C>T" "" "" "" "Gly542Gly" "unclassified variant" "Germline" "" "" "0" "" "" "g.13312714C>T" "" "VUS" "" "0000178114" "0" "55" "19" "13423528" "13423528" "subst" "0.00130896" "00485" "CACNA1A_000238" "g.13423528C>T" "" "" "" "Gly542Gly" "unclassified variant" "Germline" "" "" "0" "" "" "g.13312714C>T" "" "VUS" "" "0000178115" "0" "55" "19" "13423528" "13423528" "subst" "0.00130896" "00485" "CACNA1A_000238" "g.13423528C>T" "" "" "" "Gly542Gly" "unclassified variant" "Germline" "" "" "0" "" "" "g.13312714C>T" "" "VUS" "" "0000178116" "0" "10" "19" "13616693" "13616693" "subst" "0" "01354" "CACNA1A_000276" "g.13616693C>T" "" "" "" "" "" "Germline" "" "rs16003" "0" "" "" "g.13505879C>T" "" "benign" "" "0000178117" "0" "55" "19" "13423528" "13423528" "subst" "0.00130896" "00485" "CACNA1A_000238" "g.13423528C>T" "" "" "" "Gly542Gly" "unclassified variant" "Germline" "" "" "0" "" "" "g.13312714C>T" "" "VUS" "" "0000178118" "0" "10" "19" "13419313" "13419313" "subst" "0.00360576" "00485" "CACNA1A_000237" "g.13419313G>A" "" "" "" "Ile567Ile" "" "Germline" "" "" "0" "" "" "g.13308499G>A" "" "benign" "" "0000178120" "0" "90" "19" "13419273" "13419273" "subst" "0" "00485" "CACNA1A_000236" "g.13419273C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13308459C>G" "" "pathogenic" "" "0000178121" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "01354" "CACNA1A_000012" "g.13419235G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13308421G>C" "" "benign" "" "0000178122" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "01354" "CACNA1A_000012" "g.13419235G>C" "" "" "" "" "" "Germline" "" "rs16012" "0" "" "" "g.13308421G>C" "" "benign" "" "0000178123" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "00485" "CACNA1A_000012" "g.13419235G>C" "" "" "" "Val593Val" "" "Germline" "" "" "0" "" "" "g.13308421G>C" "" "benign" "" "0000178125" "0" "10" "19" "13418707" "13418707" "subst" "0.139661" "01354" "CACNA1A_000013" "g.13418707C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13307893C>T" "" "benign" "" "0000178126" "0" "10" "19" "13418707" "13418707" "subst" "0.139661" "01354" "CACNA1A_000013" "g.13418707C>T" "" "" "" "" "" "Germline" "" "rs16015" "0" "" "" "g.13307893C>T" "" "benign" "" "0000178127" "0" "10" "19" "13616693" "13616693" "subst" "0" "00485" "CACNA1A_000276" "g.13616693C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13505879C>T" "" "benign" "" "0000178128" "0" "10" "19" "13418707" "13418707" "subst" "0.139661" "00485" "CACNA1A_000013" "g.13418707C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13307893C>T" "" "benign" "" "0000178129" "0" "10" "19" "13418560" "13418560" "subst" "3.26121E-5" "00485" "CACNA1A_000231" "g.13418560G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13307746G>C" "" "benign" "" "0000178131" "0" "10" "19" "13414600" "13414600" "subst" "4.06111E-6" "00485" "CACNA1A_000230" "g.13414600T>C" "" "" "" "Val696Val" "" "Germline" "" "" "0" "" "" "g.13303786T>C" "" "benign" "" "0000178132" "0" "10" "19" "13414594" "13414594" "subst" "0.164445" "01354" "CACNA1A_000015" "g.13414594C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13303780C>T" "" "benign" "" "0000178133" "0" "10" "19" "13414594" "13414594" "subst" "0.164445" "01354" "CACNA1A_000015" "g.13414594C>T" "" "" "" "p.Thr698Thr" "" "Germline" "" "rs16016" "0" "" "" "g.13303780C>T" "" "benign" "" "0000178134" "0" "10" "19" "13414594" "13414594" "subst" "0.164445" "00485" "CACNA1A_000015" "g.13414594C>T" "" "" "" "p.Thr698Thr" "" "Germline" "" "" "0" "" "" "g.13303780C>T" "" "benign" "" "0000178135" "0" "55" "19" "13414554" "13414554" "subst" "0.00121035" "00485" "CACNA1A_000228" "g.13414554C>T" "" "" "" "" "unclassified variant" "Germline" "" "" "0" "" "" "g.13303740C>T" "" "VUS" "" "0000178137" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "01354" "CACNA1A_000224" "g.13411482G>A" "" "" "" "" "" "Germline" "" "rs16018" "0" "" "" "g.13300668G>A" "" "benign" "" "0000178138" "0" "10" "19" "13563857" "13563857" "subst" "0.0263034" "00485" "CACNA1A_000272" "g.13563857G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13453043G>A" "" "benign" "" "0000178139" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "00485" "CACNA1A_000224" "g.13411482G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13300668G>A" "" "benign" "" "0000178141" "0" "10" "19" "13411451" "13411451" "subst" "0.0105871" "01354" "CACNA1A_000223" "g.13411451T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13300637T>G" "" "benign" "" "0000178142" "0" "10" "19" "13411451" "13411451" "subst" "0.0105871" "01354" "CACNA1A_000223" "g.13411451T>G" "" "" "" "" "" "Germline" "" "rs16019" "0" "" "" "g.13300637T>G" "" "benign" "" "0000178143" "0" "10" "19" "13411451" "13411451" "subst" "0.0105871" "00485" "CACNA1A_000223" "g.13411451T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13300637T>G" "" "benign" "" "0000178145" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "01354" "CACNA1A_000019" "g.13409696C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298882C>G" "" "benign" "" "0000178146" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "01354" "CACNA1A_000019" "g.13409696C>G" "" "" "" "" "" "Germline" "" "rs16022" "0" "" "" "g.13298882C>G" "" "benign" "" "0000178147" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "00485" "CACNA1A_000019" "g.13409696C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298882C>G" "" "benign" "" "0000178148" "0" "90" "19" "13409639" "13409639" "del" "0" "00485" "CACNA1A_000215" "g.13409639del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298825del" "" "pathogenic" "" "0000178149" "0" "10" "19" "13563857" "13563857" "subst" "0.0263034" "01354" "CACNA1A_000272" "g.13563857G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13453043G>A" "" "benign" "" "0000178150" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "01354" "CACNA1A_000022" "g.13409472T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298658T>A" "" "benign" "" "0000178151" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "01354" "CACNA1A_000022" "g.13409472T>A" "" "" "" "" "" "Germline" "" "rs16023" "0" "" "" "g.13298658T>A" "" "benign" "" "0000178152" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "00485" "CACNA1A_000022" "g.13409472T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298658T>A" "" "benign" "" "0000178153" "0" "10" "19" "13409407" "13409407" "subst" "0.00348005" "01354" "CACNA1A_000023" "g.13409407C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298593C>T" "" "benign" "" "0000178154" "0" "10" "19" "13409407" "13409407" "subst" "0.00348005" "01354" "CACNA1A_000023" "g.13409407C>T" "" "" "" "" "" "Germline" "" "rs16024" "0" "" "" "g.13298593C>T" "" "benign" "" "0000178155" "0" "10" "19" "13409407" "13409407" "subst" "0.00348005" "00485" "CACNA1A_000023" "g.13409407C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298593C>T" "" "benign" "" "0000178156" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "01354" "CACNA1A_000024" "g.13409390C>T" "" "" "" "Arg1020Arg" "" "Germline" "" "" "0" "" "" "g.13298576C>T" "" "benign" "" "0000178157" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "01354" "CACNA1A_000024" "g.13409390C>T" "" "" "" "Arg1020Arg" "" "Germline" "" "rs16025" "0" "" "" "g.13298576C>T" "" "benign" "" "0000178158" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "00485" "CACNA1A_000024" "g.13409390C>T" "" "" "" "Arg1020Arg" "" "Germline" "" "" "0" "" "" "g.13298576C>T" "" "benign" "" "0000178159" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "01354" "CACNA1A_000026" "g.13397560C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000178161" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "01354" "CACNA1A_000026" "g.13397560C>T" "" "" "" "" "" "Germline" "" "rs16027" "0" "" "" "g.13286746C>T" "" "benign" "" "0000178162" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "00485" "CACNA1A_000026" "g.13397560C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000178163" "0" "10" "19" "13397381" "13397381" "subst" "4.24579E-5" "00485" "CACNA1A_000206" "g.13397381G>A" "" "" "" "Pro1164Pro" "" "Germline" "" "" "0" "" "" "g.13286567G>A" "" "benign" "" "0000178164" "0" "10" "19" "13397381" "13397381" "subst" "4.24579E-5" "00485" "CACNA1A_000206" "g.13397381G>A" "" "" "" "Pro1164Pro" "" "Germline" "" "" "0" "" "" "g.13286567G>A" "" "benign" "" "0000178165" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "01354" "CACNA1A_000027" "g.13397324G>A" "" "" "" "Val1183Val" "" "Germline" "" "" "0" "" "" "g.13286510G>A" "" "benign" "" "0000178166" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "01354" "CACNA1A_000027" "g.13397324G>A" "" "" "" "Val1183Val" "" "Germline" "" "rs16029" "0" "" "" "g.13286510G>A" "" "benign" "" "0000178167" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "00485" "CACNA1A_000027" "g.13397324G>A" "" "" "" "Val1183Val" "" "Germline" "" "" "0" "" "" "g.13286510G>A" "" "benign" "" "0000178168" "0" "10" "19" "13395955" "13395955" "subst" "0" "01354" "CACNA1A_000203" "g.13395955C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13285141C>T" "" "benign" "" "0000178169" "0" "55" "19" "13396004" "13396004" "subst" "0" "00485" "CACNA1A_000098" "g.13396004A>G" "" "" "" "Cys1191Cys" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.13285190A>G" "" "VUS" "" "0000178170" "0" "30" "19" "13387970" "13387970" "subst" "0.0200662" "00485" "CACNA1A_000201" "g.13387970T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13277156T>C" "" "likely benign" "" "0000242730" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000093" "g.(13318647_13318737)[ins51]" "2/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000242731" "3" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "" "{PMID:Matsuyama 1997:9259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000242732" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins51]" "2/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000247855" "0" "10" "19" "13319693" "13319693" "subst" "0" "02325" "CACNA1A_000046" "g.13319693A>G" "" "" "" "CACNA1A(NM_000068.3):c.6675delinsC (p.(His2225=)), CACNA1A(NM_023035.2):c.6675T>C (p.H2225=), CACNA1A(NM_023035.3):c.6675T>C (p.H2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208879A>G" "" "benign" "" "0000249635" "0" "90" "19" "13446657" "13446657" "del" "0" "02325" "CACNA1A_000261" "g.13446657del" "" "" "" "CACNA1A(NM_023035.3):c.1050delT (p.F350Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13335843del" "" "pathogenic" "" "0000250637" "0" "10" "19" "13319693" "13319693" "subst" "0" "02326" "CACNA1A_000046" "g.13319693A>G" "" "" "" "CACNA1A(NM_000068.3):c.6675delinsC (p.(His2225=)), CACNA1A(NM_023035.2):c.6675T>C (p.H2225=), CACNA1A(NM_023035.3):c.6675T>C (p.H2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208879A>G" "" "benign" "" "0000250812" "0" "30" "19" "13427963" "13427963" "subst" "0.00257231" "02326" "CACNA1A_000241" "g.13427963A>G" "" "" "" "CACNA1A(NM_023035.2):c.1521T>C (p.V507=), CACNA1A(NM_023035.3):c.1521T>C (p.V507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13317149A>G" "" "likely benign" "" "0000251049" "0" "10" "19" "13356074" "13356074" "subst" "0" "02326" "CACNA1A_000178" "g.13356074A>G" "" "" "" "CACNA1A(NM_023035.3):c.4884T>C (p.Y1628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13245260A>G" "" "benign" "" "0000251632" "0" "10" "19" "13318904" "13318904" "del" "0" "02326" "CACNA1A_000133" "g.13318904del" "" "" "" "CACNA1A(NM_023035.3):c.6799-29delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208090del" "" "benign" "" "0000251633" "0" "10" "19" "13373411" "13373411" "subst" "0" "02326" "CACNA1A_000193" "g.13373411A>T" "" "" "" "CACNA1A(NM_023035.3):c.4101+137T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13262597A>T" "" "benign" "" "0000251634" "0" "10" "19" "13387848" "13387848" "del" "0" "02326" "CACNA1A_000199" "g.13387848del" "" "" "" "CACNA1A(NM_023035.3):c.3894+45delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13277034del" "" "benign" "" "0000252314" "0" "30" "19" "13340750" "13340750" "subst" "0" "02326" "CACNA1A_000170" "g.13340750A>G" "" "" "" "CACNA1A(NM_023035.3):c.5546+146T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13229936A>G" "" "likely benign" "" "0000252315" "0" "30" "19" "13441341" "13441341" "subst" "0" "02326" "CACNA1A_000247" "g.13441341A>T" "" "" "" "CACNA1A(NM_023035.3):c.1256-191T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13330527A>T" "" "likely benign" "" "0000252316" "0" "30" "19" "13443551" "13443551" "subst" "0" "02326" "CACNA1A_000248" "g.13443551A>G" "" "" "" "CACNA1A(NM_023035.3):c.1255+132T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13332737A>G" "" "likely benign" "" "0000252317" "0" "30" "19" "13476334" "13476334" "subst" "0" "02326" "CACNA1A_000265" "g.13476334A>C" "" "" "" "CACNA1A(NM_023035.3):c.632-51T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13365520A>C" "" "likely benign" "" "0000252989" "0" "10" "19" "13319693" "13319693" "subst" "0" "01943" "CACNA1A_000046" "g.13319693A>G" "" "" "" "CACNA1A(NM_000068.3):c.6675delinsC (p.(His2225=)), CACNA1A(NM_023035.2):c.6675T>C (p.H2225=), CACNA1A(NM_023035.3):c.6675T>C (p.H2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208879A>G" "" "benign" "" "0000253494" "0" "10" "19" "13387904" "13387904" "subst" "0.195237" "01943" "CACNA1A_000029" "g.13387904A>G" "" "" "" "CACNA1A(NM_023035.2):c.3873T>C (p.F1291=), CACNA1A(NM_023035.3):c.3873T>C (p.F1291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13277090A>G" "" "benign" "" "0000254031" "0" "30" "19" "13427963" "13427963" "subst" "0.00257231" "01943" "CACNA1A_000241" "g.13427963A>G" "" "" "" "CACNA1A(NM_023035.2):c.1521T>C (p.V507=), CACNA1A(NM_023035.3):c.1521T>C (p.V507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13317149A>G" "" "likely benign" "" "0000255161" "0" "30" "19" "13318222" "13318222" "subst" "7.48806E-5" "01943" "CACNA1A_000121" "g.13318222A>G" "" "" "" "CACNA1A(NM_023035.2):c.7444T>C (p.Y2482H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207408A>G" "" "likely benign" "" "0000255324" "0" "30" "19" "13325428" "13325428" "subst" "0.00235808" "01943" "CACNA1A_000159" "g.13325428A>G" "" "" "" "CACNA1A(NM_023035.2):c.5750-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214614A>G" "" "likely benign" "" "0000256589" "0" "50" "19" "13335561" "13335561" "subst" "0" "01943" "CACNA1A_000160" "g.13335561A>T" "" "" "" "CACNA1A(NM_000068.3):c.5669T>A (p.(Val1890Asp)), CACNA1A(NM_001127222.1):c.5651T>A (p.V1884D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13224747A>T" "" "VUS" "" "0000266387" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "02325" "CACNA1A_000007" "g.13445208C>T" "" "" "" "CACNA1A(NM_023035.2):c.1182G>A (p.E394=), CACNA1A(NM_023035.3):c.1182G>A (p.E394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13334394C>T" "" "benign" "" "0000266388" "0" "30" "19" "13428124" "13428124" "subst" "0.00455098" "02325" "CACNA1A_000010" "g.13428124C>T" "" "" "" "CACNA1A(NM_001127222.1):c.1357G>A (p.(Ala453Thr)), CACNA1A(NM_023035.2):c.1360G>A (p.A454T), CACNA1A(NM_023035.3):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13317310C>T" "" "likely benign" "" "0000266389" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "02325" "CACNA1A_000224" "g.13411482G>A" "" "" "" "CACNA1A(NM_001127221.1):c.2176-12C>T, CACNA1A(NM_023035.2):c.2185-12C>T, CACNA1A(NM_023035.3):c.2185-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300668G>A" "" "benign" "" "0000266390" "0" "50" "19" "13410102" "13410102" "subst" "0" "02325" "CACNA1A_000221" "g.13410102C>G" "" "" "" "CACNA1A(NM_023035.3):c.2357G>C (p.R786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13299288C>G" "" "VUS" "" "0000266391" "0" "50" "19" "13409460" "13409465" "dup" "0" "02325" "CACNA1A_000102" "g.13409460_13409465dup" "" "" "" "CACNA1A(NM_023035.3):c.2994_2999dupGGGCCC (p.G999_P1000dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298646_13298651dup" "" "VUS" "" "0000266392" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "02325" "CACNA1A_000026" "g.13397560C>T" "" "" "" "CACNA1A(NM_023035.2):c.3322G>A (p.G1108S), CACNA1A(NM_023035.3):c.3322G>A (p.G1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000266393" "0" "10" "19" "13319693" "13319695" "del" "0" "02325" "CACNA1A_000136" "g.13319693_13319695del" "" "" "" "CACNA1A(NM_023035.3):c.6674_6676delATC (p.H2225del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208879_13208881del" "" "benign" "" "0000266394" "0" "10" "19" "13318707" "13318712" "del" "0" "02325" "CACNA1A_000088" "g.13318707_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*178del (p.(=)), CACNA1A(NM_023035.2):c.6988_6993delCAGCAG (p.Q2330_Q2331del), CACNA1A(NM_023035.3):c.6988_6993delCAGCA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207893_13207898del" "" "benign" "" "0000266395" "0" "10" "19" "13318710" "13318712" "del" "0" "02325" "CACNA1A_000128" "g.13318710_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*175del (p.(=)), CACNA1A(NM_023035.2):c.6991_6993delCAG (p.Q2331del), CACNA1A(NM_023035.3):c.6991_6993delCAG (p.Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898del" "" "benign" "" "0000266396" "0" "10" "19" "13318710" "13318712" "dup" "0" "02325" "CACNA1A_000091" "g.13318710_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*185_*187dup (p.(=)), CACNA1A(NM_023035.2):c.6991_6993dupCAG (p.Q2331dup), CACNA1A(NM_023035.3):c.6991_6993dupCAG (p.Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898dup" "" "benign" "" "0000266397" "0" "70" "19" "13476158" "13476158" "subst" "0" "02325" "CACNA1A_000264" "g.13476158G>A" "" "" "" "CACNA1A(NM_023035.3):c.757C>T (p.H253Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13365344G>A" "" "likely pathogenic" "" "0000266398" "0" "70" "19" "13470563" "13470563" "subst" "0" "02325" "CACNA1A_000263" "g.13470563G>A" "" "" "" "CACNA1A(NM_023035.3):c.835C>T (p.R279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13359749G>A" "" "likely pathogenic" "" "0000266399" "0" "50" "19" "13470560" "13470560" "subst" "0" "02325" "CACNA1A_000262" "g.13470560T>C" "" "" "" "CACNA1A(NM_023035.3):c.838A>G (p.T280A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13359746T>C" "" "VUS" "" "0000268036" "0" "70" "19" "13372399" "13372399" "subst" "0" "02329" "CACNA1A_000192" "g.13372399G>A" "" "" "" "CACNA1A(NM_023035.3):c.4127C>T (p.S1376L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13261585G>A" "" "likely pathogenic" "" "0000268037" "0" "70" "19" "13356049" "13356049" "subst" "0" "02329" "CACNA1A_000177" "g.13356049C>T" "" "" "" "CACNA1A(NM_023035.3):c.4909G>A (p.D1637N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13245235C>T" "" "likely pathogenic" "" "0000269480" "0" "30" "19" "13318838" "13318838" "subst" "0" "02326" "CACNA1A_000131" "g.13318838G>A" "" "" "" "CACNA1A(NM_001127221.1):c.*22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208024G>A" "" "likely benign" "" "0000269481" "0" "30" "19" "13318061" "13318061" "subst" "0" "02326" "CACNA1A_000116" "g.13318061G>A" "" "" "" "CACNA1A(NM_023035.3):c.*66C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207247G>A" "" "likely benign" "" "0000269482" "0" "30" "19" "13446434" "13446434" "subst" "0" "02326" "CACNA1A_000259" "g.13446434G>T" "" "" "" "CACNA1A(NM_023035.3):c.1082+186C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13335620G>T" "" "likely benign" "" "0000269483" "0" "30" "19" "13445411" "13445411" "subst" "0" "02326" "CACNA1A_000258" "g.13445411G>T" "" "" "" "CACNA1A(NM_023035.3):c.1083-104C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13334597G>T" "" "likely benign" "" "0000269484" "0" "30" "19" "13445375" "13445376" "del" "0" "02326" "CACNA1A_000252" "g.13445375_13445376del" "" "" "" "CACNA1A(NM_023035.3):c.1083-68_1083-67delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13334561_13334562del" "" "likely benign" "" "0000269485" "0" "10" "19" "13441051" "13441051" "subst" "0.00221171" "02326" "CACNA1A_000245" "g.13441051G>A" "" "" "" "CACNA1A(NM_000068.3):c.1348+7C>T (p.(=)), CACNA1A(NM_023035.2):c.1348+7C>T, CACNA1A(NM_023035.3):c.1348+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13330237G>A" "" "benign" "" "0000269486" "0" "30" "19" "13427902" "13427902" "subst" "0.00112082" "02326" "CACNA1A_000240" "g.13427902G>A" "" "" "" "CACNA1A(NM_023035.3):c.1558+24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13317088G>A" "" "likely benign" "" "0000269487" "0" "30" "19" "13423537" "13423537" "subst" "0.00160863" "02326" "CACNA1A_000239" "g.13423537G>A" "" "" "" "CACNA1A(NM_000068.3):c.1617C>T (p.(Tyr539=)), CACNA1A(NM_023035.2):c.1617C>T (p.Y539=), CACNA1A(NM_023035.3):c.1617C>T (p.Y539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13312723G>A" "" "likely benign" "" "0000269488" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "02326" "CACNA1A_000012" "g.13419235G>C" "" "" "" "CACNA1A(NM_000068.3):c.1779C>G (p.(Val593=)), CACNA1A(NM_023035.2):c.1779C>G (p.V593=), CACNA1A(NM_023035.3):c.1779C>G (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308421G>C" "" "benign" "" "0000269489" "0" "30" "19" "13419158" "13419158" "subst" "0" "02326" "CACNA1A_000234" "g.13419158T>C" "" "" "" "CACNA1A(NM_023035.3):c.1784+72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308344T>C" "" "likely benign" "" "0000269490" "0" "30" "19" "13418580" "13418580" "subst" "0" "02326" "CACNA1A_000232" "g.13418580C>A" "" "" "" "CACNA1A(NM_023035.3):c.1989+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13307766C>A" "" "likely benign" "" "0000269491" "0" "10" "19" "13414554" "13414554" "subst" "0.00121035" "02326" "CACNA1A_000228" "g.13414554C>T" "" "" "" "CACNA1A(NM_023035.3):c.2107+27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13303740C>T" "" "benign" "" "0000269492" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "02326" "CACNA1A_000224" "g.13411482G>A" "" "" "" "CACNA1A(NM_001127221.1):c.2176-12C>T, CACNA1A(NM_023035.2):c.2185-12C>T, CACNA1A(NM_023035.3):c.2185-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300668G>A" "" "benign" "" "0000269493" "0" "30" "19" "13411532" "13411532" "subst" "0" "02326" "CACNA1A_000225" "g.13411532G>C" "" "" "" "CACNA1A(NM_023035.3):c.2185-62C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300718G>C" "" "likely benign" "" "0000269494" "0" "30" "19" "13411451" "13411451" "subst" "0.0105871" "02326" "CACNA1A_000223" "g.13411451T>G" "" "" "" "CACNA1A(NM_000068.3):c.2204A>C (p.(Glu735Ala)), CACNA1A(NM_023035.2):c.2204A>C (p.E735A), CACNA1A(NM_023035.3):c.2204A>C (p.E735A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300637T>G" "" "likely benign" "" "0000269495" "0" "10" "19" "13411141" "13411141" "del" "0" "02326" "CACNA1A_000222" "g.13411141del" "" "" "" "CACNA1A(NM_023035.3):c.2291+232delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300327del" "" "benign" "" "0000269496" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "02326" "CACNA1A_000019" "g.13409696C>G" "" "" "" "CACNA1A(NM_023035.2):c.2763G>C (p.E921D), CACNA1A(NM_023035.3):c.2763G>C (p.E921D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298882C>G" "" "benign" "" "0000269497" "0" "10" "19" "13597512" "13597513" "del" "0" "02326" "CACNA1A_000275" "g.13597512_13597513del" "" "" "" "CACNA1A(NM_023035.3):c.293+19238_293+19239delGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13486698_13486699del" "" "benign" "" "0000269498" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "02326" "CACNA1A_000022" "g.13409472T>A" "" "" "" "CACNA1A(NM_023035.2):c.2987A>T (p.E996V), CACNA1A(NM_023035.3):c.2987A>T (p.E996V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298658T>A" "" "benign" "" "0000269499" "0" "30" "19" "13409419" "13409419" "subst" "0.003828" "02326" "CACNA1A_000212" "g.13409419G>C" "" "" "" "CACNA1A(NM_000068.3):c.3040C>G (p.(Pro1014Ala)), CACNA1A(NM_023035.3):c.3040C>G (p.P1014A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298605G>C" "" "likely benign" "" "0000269500" "0" "10" "19" "13409407" "13409407" "subst" "0.00348005" "02326" "CACNA1A_000023" "g.13409407C>T" "" "" "" "CACNA1A(NM_000068.3):c.3052G>A (p.(Glu1018Lys)), CACNA1A(NM_023035.2):c.3052G>A (p.E1018K), CACNA1A(NM_023035.3):c.3052G>A (p.E1018K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298593C>T" "" "benign" "" "0000269501" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "02326" "CACNA1A_000024" "g.13409390C>T" "" "" "" "CACNA1A(NM_023035.2):c.3069G>A (p.R1023=), CACNA1A(NM_023035.3):c.3069G>A (p.R1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298576C>T" "" "benign" "" "0000269502" "0" "10" "19" "13397633" "13397633" "subst" "0.00138699" "02326" "CACNA1A_000211" "g.13397633G>A" "" "" "" "CACNA1A(NM_023035.2):c.3249C>T (p.A1083=), CACNA1A(NM_023035.3):c.3249C>T (p.A1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286819G>A" "" "benign" "" "0000269503" "0" "30" "19" "13397566" "13397566" "subst" "0.000509744" "02326" "CACNA1A_000209" "g.13397566C>T" "" "" "" "CACNA1A(NM_023035.3):c.3316G>A (p.D1106N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286752C>T" "" "likely benign" "" "0000269504" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "02326" "CACNA1A_000026" "g.13397560C>T" "" "" "" "CACNA1A(NM_023035.2):c.3322G>A (p.G1108S), CACNA1A(NM_023035.3):c.3322G>A (p.G1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000269505" "0" "50" "19" "13397502" "13397502" "subst" "7.56194E-5" "02326" "CACNA1A_000208" "g.13397502C>T" "" "" "" "CACNA1A(NM_023035.3):c.3380G>A (p.R1127Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286688C>T" "" "VUS" "" "0000269506" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "02326" "CACNA1A_000027" "g.13397324G>A" "" "" "" "CACNA1A(NM_000068.3):c.3558C>T (p.(Val1186=)), CACNA1A(NM_001127222.2):c.3546C>T (p.V1182=), CACNA1A(NM_023035.2):c.3558C>T (p.V1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286510G>A" "" "benign" "" "0000269507" "0" "30" "19" "13395956" "13395956" "subst" "0.000127181" "02326" "CACNA1A_000204" "g.13395956T>C" "" "" "" "CACNA1A(NM_023035.3):c.3630A>G (p.E1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13285142T>C" "" "likely benign" "" "0000269508" "0" "10" "19" "13387970" "13387970" "subst" "0.0200662" "02326" "CACNA1A_000201" "g.13387970T>C" "" "" "" "CACNA1A(NM_023035.3):c.3835-28A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13277156T>C" "" "benign" "" "0000269509" "0" "30" "19" "13565822" "13565822" "subst" "0" "02326" "CACNA1A_000273" "g.13565822T>C" "" "" "" "CACNA1A(NM_023035.3):c.399+99A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13455008T>C" "" "likely benign" "" "0000269510" "0" "10" "19" "13563857" "13563857" "subst" "0.0263034" "02326" "CACNA1A_000272" "g.13563857G>A" "" "" "" "CACNA1A(NM_023035.3):c.400-28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13453043G>A" "" "benign" "" "0000269511" "0" "30" "19" "13386651" "13386651" "subst" "0.00351701" "02326" "CACNA1A_000197" "g.13386651C>A" "" "" "" "CACNA1A(NM_023035.3):c.4001+13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13275837C>A" "" "likely benign" "" "0000269512" "0" "10" "19" "13386464" "13386464" "del" "0" "02326" "CACNA1A_000196" "g.13386464del" "" "" "" "CACNA1A(NM_023035.3):c.4001+206delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13275650del" "" "benign" "" "0000269513" "0" "30" "19" "13373651" "13373651" "subst" "4.14717E-6" "02326" "CACNA1A_000194" "g.13373651T>C" "" "" "" "CACNA1A(NM_023035.3):c.4002-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13262837T>C" "" "likely benign" "" "0000269514" "0" "10" "19" "13373743" "13373743" "subst" "0" "02326" "CACNA1A_000195" "g.13373743C>T" "" "" "" "CACNA1A(NM_023035.3):c.4002-96G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13262929C>T" "" "benign" "" "0000269515" "0" "90" "19" "13372265" "13372265" "subst" "0" "02326" "CACNA1A_000191" "g.13372265G>A" "" "" "" "CACNA1A(NM_023035.3):c.4261C>T (p.R1421*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13261451G>A" "" "pathogenic" "" "0000269516" "0" "30" "19" "13370529" "13370529" "subst" "0" "02326" "CACNA1A_000190" "g.13370529T>C" "" "" "" "CACNA1A(NM_023035.3):c.4263-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13259715T>C" "" "likely benign" "" "0000269517" "0" "30" "19" "13370470" "13370470" "subst" "0" "02326" "CACNA1A_000189" "g.13370470G>A" "" "" "" "CACNA1A(NM_001127221.1):c.4299C>T (p.D1433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13259656G>A" "" "likely benign" "" "0000269518" "0" "30" "19" "13370455" "13370455" "subst" "0.0002369" "02326" "CACNA1A_000188" "g.13370455C>T" "" "" "" "CACNA1A(NM_023035.2):c.4323G>A (p.K1441=), CACNA1A(NM_023035.3):c.4323G>A (p.K1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13259641C>T" "" "likely benign" "" "0000269519" "0" "30" "19" "13370440" "13370440" "subst" "7.06579E-5" "02326" "CACNA1A_000187" "g.13370440G>A" "" "" "" "CACNA1A(NM_023035.3):c.4338C>T (p.Y1446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13259626G>A" "" "likely benign" "" "0000269520" "0" "30" "19" "13370367" "13370367" "subst" "4.96068E-5" "02326" "CACNA1A_000186" "g.13370367G>A" "" "" "" "CACNA1A(NM_023035.3):c.4400+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13259553G>A" "" "likely benign" "" "0000269521" "0" "30" "19" "13368096" "13368096" "subst" "0" "02326" "CACNA1A_000182" "g.13368096G>A" "" "" "" "CACNA1A(NM_023035.3):c.4602+68C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13257282G>A" "" "likely benign" "" "0000269522" "0" "30" "19" "13366047" "13366047" "subst" "2.06221E-5" "02326" "CACNA1A_000181" "g.13366047G>A" "" "" "" "CACNA1A(NM_023035.3):c.4629C>T (p.S1543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13255233G>A" "" "likely benign" "" "0000269523" "0" "30" "19" "13366032" "13366032" "subst" "0.00184291" "02326" "CACNA1A_000095" "g.13366032G>A" "" "" "" "CACNA1A(NM_023035.2):c.4644C>T (p.T1548=), CACNA1A(NM_023035.3):c.4644C>T (p.T1548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13255218G>A" "" "likely benign" "" "0000269524" "0" "30" "19" "13365857" "13365857" "subst" "0" "02326" "CACNA1A_000094" "g.13365857C>A" "" "" "" "CACNA1A(NM_023035.3):c.4767+52G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13255043C>A" "" "likely benign" "" "0000269525" "0" "30" "19" "13347277" "13347277" "subst" "0" "02326" "CACNA1A_000176" "g.13347277G>A" "" "" "" "CACNA1A(NM_023035.3):c.4969-733C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13236463G>A" "" "likely benign" "" "0000269526" "0" "90" "19" "13346516" "13346516" "subst" "0" "02326" "CACNA1A_000175" "g.13346516C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4982G>A (p.R1661H), CACNA1A(NM_023035.3):c.4997G>A (p.R1666H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13235702C>T" "" "pathogenic" "" "0000269527" "0" "30" "19" "13346408" "13346408" "subst" "0.00196769" "02326" "CACNA1A_000037" "g.13346408C>T" "" "" "" "CACNA1A(NM_023035.3):c.5085+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13235594C>T" "" "likely benign" "" "0000269528" "0" "30" "19" "13345966" "13345966" "subst" "0" "02326" "CACNA1A_000172" "g.13345966C>T" "" "" "" "CACNA1A(NM_023035.3):c.5151+57G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13235152C>T" "" "likely benign" "" "0000269529" "0" "30" "19" "13342775" "13342775" "subst" "0" "02326" "CACNA1A_000076" "g.13342775G>A" "" "" "" "CACNA1A(NM_023035.3):c.5268-101C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13231961G>A" "" "likely benign" "" "0000269530" "0" "30" "19" "13563538" "13563538" "subst" "0" "02326" "CACNA1A_000270" "g.13563538G>T" "" "" "" "CACNA1A(NM_023035.3):c.539+152C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13452724G>T" "" "likely benign" "" "0000269531" "0" "30" "19" "13341058" "13341058" "subst" "0.0146654" "02326" "CACNA1A_000077" "g.13341058G>A" "" "" "" "CACNA1A(NM_023035.3):c.5419-35C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13230244G>A" "" "likely benign" "" "0000269532" "0" "10" "19" "13339885" "13339885" "del" "0" "02326" "CACNA1A_000169" "g.13339885del" "" "" "" "CACNA1A(NM_023035.3):c.5546+1019delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13229071del" "" "benign" "" "0000269533" "0" "30" "19" "13339749" "13339749" "subst" "0" "02326" "CACNA1A_000168" "g.13339749C>A" "" "" "" "CACNA1A(NM_023035.3):c.5546+1147G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13228935C>A" "" "likely benign" "" "0000269534" "0" "30" "19" "13339419" "13339424" "del" "0" "02326" "CACNA1A_000164" "g.13339419_13339424del" "" "" "" "CACNA1A(NM_023035.3):c.5547-1082_5547-1077delATATCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13228605_13228610del" "" "likely benign" "" "0000269535" "0" "30" "19" "13339419" "13339422" "del" "0" "02326" "CACNA1A_000165" "g.13339419_13339422del" "" "" "" "CACNA1A(NM_023035.3):c.5547-1082_5547-1077delATATCTinsAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13228605_13228608del" "" "likely benign" "" "0000269536" "0" "30" "19" "13338392" "13338392" "subst" "0" "02326" "CACNA1A_000163" "g.13338392C>T" "" "" "" "CACNA1A(NM_023035.3):c.5547-51G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13227578C>T" "" "likely benign" "" "0000269537" "0" "30" "19" "13338195" "13338195" "del" "0" "02326" "CACNA1A_000162" "g.13338195del" "" "" "" "CACNA1A(NM_023035.3):c.5643+50delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13227381del" "" "likely benign" "" "0000269538" "0" "30" "19" "13338180" "13338180" "subst" "0" "02326" "CACNA1A_000161" "g.13338180A>G" "" "" "" "CACNA1A(NM_023035.3):c.5643+62_5643+65delCTTTinsCTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13227366A>G" "" "likely benign" "" "0000269539" "0" "30" "19" "13325497" "13325497" "subst" "0" "02326" "CACNA1A_000080" "g.13325497T>C" "" "" "" "CACNA1A(NM_023035.3):c.5750-75A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214683T>C" "" "likely benign" "" "0000269540" "0" "30" "19" "13325415" "13325415" "subst" "0.00317654" "02326" "CACNA1A_000041" "g.13325415G>A" "" "" "" "CACNA1A(NM_023035.3):c.5757C>T (p.A1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214601G>A" "" "likely benign" "" "0000269541" "0" "10" "19" "13325229" "13325229" "subst" "0" "02326" "CACNA1A_000081" "g.13325229G>C" "" "" "" "CACNA1A(NM_023035.3):c.5858-82C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214415G>C" "" "benign" "" "0000269542" "0" "10" "19" "13324922" "13324922" "subst" "0" "02326" "CACNA1A_000155" "g.13324922C>G" "" "" "" "CACNA1A(NM_023035.3):c.5958+125G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214108C>G" "" "benign" "" "0000269543" "0" "30" "19" "13325007" "13325007" "subst" "0" "02326" "CACNA1A_000156" "g.13325007G>A" "" "" "" "CACNA1A(NM_023035.3):c.5958+40C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13214193G>A" "" "likely benign" "" "0000269544" "0" "10" "19" "13323261" "13323261" "subst" "0.0018658" "02326" "CACNA1A_000153" "g.13323261C>T" "" "" "" "CACNA1A(NM_000068.3):c.6144G>A (p.(Thr2048=)), CACNA1A(NM_023035.2):c.6144G>A (p.T2048=), CACNA1A(NM_023035.3):c.6144G>A (p.T2048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212447C>T" "" "benign" "" "0000269545" "0" "10" "19" "13323124" "13323124" "subst" "0" "02326" "CACNA1A_000082" "g.13323124T>G" "" "" "" "CACNA1A(NM_001127222.2):c.6189+74A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212310T>G" "" "benign" "" "0000269546" "0" "30" "19" "13322955" "13322955" "subst" "0.00101095" "02326" "CACNA1A_000151" "g.13322955G>T" "" "" "" "CACNA1A(NM_000068.4):c.6283C>A (p.R2095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212141G>T" "" "likely benign" "" "0000269547" "0" "30" "19" "13321439" "13321439" "subst" "0" "02326" "CACNA1A_000149" "g.13321439T>C" "" "" "" "CACNA1A(NM_023035.3):c.6349A>G (p.N2117D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13210625T>C" "" "likely benign" "" "0000269548" "0" "30" "19" "13321421" "13321421" "subst" "0" "02326" "CACNA1A_000148" "g.13321421C>T" "" "" "" "CACNA1A(NM_023035.3):c.6357+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13210607C>T" "" "likely benign" "" "0000269549" "0" "30" "19" "13320310" "13320310" "subst" "0.00456402" "02326" "CACNA1A_000147" "g.13320310G>C" "" "" "" "CACNA1A(NM_000068.3):c.6360C>G (p.(Thr2120=)), CACNA1A(NM_023035.3):c.6360C>G (p.T2120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209496G>C" "" "likely benign" "" "0000269550" "0" "30" "19" "13320274" "13320274" "subst" "0.00471065" "02326" "CACNA1A_000145" "g.13320274G>A" "" "" "" "CACNA1A(NM_000068.3):c.6396C>T (p.(Ser2132=)), CACNA1A(NM_023035.3):c.6396C>T (p.S2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209460G>A" "" "likely benign" "" "0000269551" "0" "30" "19" "13320227" "13320227" "subst" "0" "02326" "CACNA1A_000144" "g.13320227C>T" "" "" "" "CACNA1A(NM_001127222.1):c.6425G>A (p.(Arg2142Gln)), CACNA1A(NM_001127222.2):c.6425G>A (p.R2142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209413C>T" "" "likely benign" "" "0000269552" "0" "30" "19" "13319958" "13319958" "subst" "0" "02326" "CACNA1A_000142" "g.13319958G>A" "" "" "" "CACNA1A(NM_023035.3):c.6545-135C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209144G>A" "" "likely benign" "" "0000269553" "0" "30" "19" "13319837" "13319837" "subst" "0" "02326" "CACNA1A_000140" "g.13319837G>A" "" "" "" "CACNA1A(NM_023035.3):c.6545-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209023G>A" "" "likely benign" "" "0000269554" "0" "30" "19" "13319915" "13319915" "subst" "0" "02326" "CACNA1A_000141" "g.13319915G>A" "" "" "" "CACNA1A(NM_023035.3):c.6545-92C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209101G>A" "" "likely benign" "" "0000269556" "0" "10" "19" "13318994" "13318994" "subst" "0" "02326" "CACNA1A_000135" "g.13318994G>A" "" "" "" "CACNA1A(NM_023035.3):c.6799-127C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208180G>A" "" "benign" "" "0000269557" "0" "30" "19" "13318816" "13318816" "subst" "0" "02326" "CACNA1A_000130" "g.13318816T>C" "" "" "" "CACNA1A(NM_023035.3):c.6850A>G (p.T2284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208002T>C" "" "likely benign" "" "0000269558" "0" "10" "19" "13318811" "13318811" "subst" "0.049794" "02326" "CACNA1A_000048" "g.13318811C>T" "" "" "" "CACNA1A(NM_000068.3):c.*49G>A (p.(=)), CACNA1A(NM_023035.3):c.6855G>A (p.P2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207997C>T" "" "benign" "" "0000269559" "0" "30" "19" "13318695" "13318712" "del" "0" "02326" "CACNA1A_000090" "g.13318695_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*170_*187del (p.(=)), CACNA1A(NM_001127222.2):c.6958_6975delCAGCAGCAGCAGCAGCAG (p.Q2320_Q2325del), CACNA1A(NM_023035.3):c.69..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207881_13207898del" "" "likely benign" "" "0000269560" "0" "30" "19" "13318710" "13318712" "del" "0" "02326" "CACNA1A_000087" "g.13318710_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*175del (p.(=)), CACNA1A(NM_023035.2):c.6991_6993delCAG (p.Q2331del), CACNA1A(NM_023035.3):c.6991_6993delCAG (p.Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898del" "" "likely benign" "" "0000269562" "0" "10" "19" "13318671" "13318676" "del" "0" "02326" "CACNA1A_000126" "g.13318671_13318676del" "" "" "" "CACNA1A(NM_023035.3):c.6991_6996delCAGGCG (p.Q2331_A2332del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207857_13207862del" "" "benign" "" "0000269563" "0" "30" "19" "13318217" "13318217" "subst" "0.0125341" "02326" "CACNA1A_000119" "g.13318217G>A" "" "" "" "CACNA1A(NM_000068.3):c.*643C>T (p.(=)), CACNA1A(NM_023035.3):c.7449C>T (p.Y2483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207403G>A" "" "likely benign" "" "0000272398" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "01943" "CACNA1A_000007" "g.13445208C>T" "" "" "" "CACNA1A(NM_023035.2):c.1182G>A (p.E394=), CACNA1A(NM_023035.3):c.1182G>A (p.E394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13334394C>T" "" "benign" "" "0000272399" "0" "30" "19" "13443723" "13443723" "subst" "0" "01943" "CACNA1A_000250" "g.13443723G>A" "" "" "" "CACNA1A(NM_023035.2):c.1215C>T (p.A405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13332909G>A" "" "likely benign" "" "0000272400" "0" "30" "19" "13441051" "13441051" "subst" "0.00221171" "01943" "CACNA1A_000245" "g.13441051G>A" "" "" "" "CACNA1A(NM_000068.3):c.1348+7C>T (p.(=)), CACNA1A(NM_023035.2):c.1348+7C>T, CACNA1A(NM_023035.3):c.1348+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13330237G>A" "" "likely benign" "" "0000272401" "0" "10" "19" "13428124" "13428124" "subst" "0.00455098" "01943" "CACNA1A_000010" "g.13428124C>T" "" "" "" "CACNA1A(NM_001127222.1):c.1357G>A (p.(Ala453Thr)), CACNA1A(NM_023035.2):c.1360G>A (p.A454T), CACNA1A(NM_023035.3):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13317310C>T" "" "benign" "" "0000272402" "0" "30" "19" "13423537" "13423537" "subst" "0.00160863" "01943" "CACNA1A_000239" "g.13423537G>A" "" "" "" "CACNA1A(NM_000068.3):c.1617C>T (p.(Tyr539=)), CACNA1A(NM_023035.2):c.1617C>T (p.Y539=), CACNA1A(NM_023035.3):c.1617C>T (p.Y539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13312723G>A" "" "likely benign" "" "0000272403" "0" "30" "19" "13423528" "13423528" "subst" "0.00130896" "01943" "CACNA1A_000238" "g.13423528C>T" "" "" "" "CACNA1A(NM_023035.2):c.1626G>A (p.G542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13312714C>T" "" "likely benign" "" "0000272404" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "01943" "CACNA1A_000012" "g.13419235G>C" "" "" "" "CACNA1A(NM_000068.3):c.1779C>G (p.(Val593=)), CACNA1A(NM_023035.2):c.1779C>G (p.V593=), CACNA1A(NM_023035.3):c.1779C>G (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308421G>C" "" "benign" "" "0000272405" "0" "10" "19" "13419212" "13419212" "subst" "0.00538898" "01943" "CACNA1A_000235" "g.13419212G>T" "" "" "" "CACNA1A(NM_000068.3):c.1784+18C>A (p.(=)), CACNA1A(NM_023035.2):c.1784+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308398G>T" "" "benign" "" "0000272406" "0" "10" "19" "13419085" "13419085" "subst" "0.00899507" "01943" "CACNA1A_000233" "g.13419085G>A" "" "" "" "CACNA1A(NM_000068.3):c.1785-20C>T (p.(=)), CACNA1A(NM_023035.2):c.1785-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308271G>A" "" "benign" "" "0000272407" "0" "10" "19" "13414594" "13414594" "subst" "0.164445" "01943" "CACNA1A_000015" "g.13414594C>T" "" "" "" "CACNA1A(NM_023035.2):c.2094G>A (p.T698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13303780C>T" "" "benign" "" "0000272408" "0" "10" "19" "13414402" "13414402" "subst" "0.000677272" "01943" "CACNA1A_000227" "g.13414402G>C" "" "" "" "CACNA1A(NM_023035.2):c.2133C>G (p.A711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13303588G>C" "" "benign" "" "0000272409" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "01943" "CACNA1A_000224" "g.13411482G>A" "" "" "" "CACNA1A(NM_001127221.1):c.2176-12C>T, CACNA1A(NM_023035.2):c.2185-12C>T, CACNA1A(NM_023035.3):c.2185-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300668G>A" "" "benign" "" "0000272410" "0" "10" "19" "13409769" "13409769" "subst" "0.00101316" "01943" "CACNA1A_000219" "g.13409769C>T" "" "" "" "CACNA1A(NM_023035.2):c.2690G>A (p.R897Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298955C>T" "" "benign" "" "0000272411" "0" "50" "19" "13409760" "13409760" "subst" "0.00109475" "01943" "CACNA1A_000058" "g.13409760G>C" "" "" "" "CACNA1A(NM_000068.3):c.2699C>G (p.(Pro900Arg)), CACNA1A(NM_023035.2):c.2699C>G (p.P900R), CACNA1A(NM_023035.3):c.2699C>G (p.P900R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298946G>C" "" "VUS" "" "0000272412" "0" "10" "19" "13409710" "13409710" "subst" "0.00142579" "01943" "CACNA1A_000218" "g.13409710G>A" "" "" "" "CACNA1A(NM_023035.2):c.2749C>T (p.P917S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298896G>A" "" "benign" "" "0000272413" "0" "10" "19" "13409708" "13409708" "subst" "0.00137086" "01943" "CACNA1A_000217" "g.13409708G>A" "" "" "" "CACNA1A(NM_023035.2):c.2751C>T (p.P917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298894G>A" "" "benign" "" "0000272414" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "01943" "CACNA1A_000019" "g.13409696C>G" "" "" "" "CACNA1A(NM_023035.2):c.2763G>C (p.E921D), CACNA1A(NM_023035.3):c.2763G>C (p.E921D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298882C>G" "" "benign" "" "0000272415" "0" "10" "19" "13409621" "13409621" "subst" "0.00119202" "01943" "CACNA1A_000214" "g.13409621G>A" "" "" "" "CACNA1A(NM_023035.2):c.2838C>T (p.S946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298807G>A" "" "benign" "" "0000272416" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "01943" "CACNA1A_000022" "g.13409472T>A" "" "" "" "CACNA1A(NM_023035.2):c.2987A>T (p.E996V), CACNA1A(NM_023035.3):c.2987A>T (p.E996V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298658T>A" "" "benign" "" "0000272417" "0" "30" "19" "13409407" "13409407" "subst" "0.00348005" "01943" "CACNA1A_000023" "g.13409407C>T" "" "" "" "CACNA1A(NM_000068.3):c.3052G>A (p.(Glu1018Lys)), CACNA1A(NM_023035.2):c.3052G>A (p.E1018K), CACNA1A(NM_023035.3):c.3052G>A (p.E1018K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298593C>T" "" "likely benign" "" "0000272418" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "01943" "CACNA1A_000024" "g.13409390C>T" "" "" "" "CACNA1A(NM_023035.2):c.3069G>A (p.R1023=), CACNA1A(NM_023035.3):c.3069G>A (p.R1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298576C>T" "" "benign" "" "0000272419" "0" "10" "19" "13397633" "13397633" "subst" "0.00138699" "01943" "CACNA1A_000211" "g.13397633G>A" "" "" "" "CACNA1A(NM_023035.2):c.3249C>T (p.A1083=), CACNA1A(NM_023035.3):c.3249C>T (p.A1083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286819G>A" "" "benign" "" "0000272420" "0" "30" "19" "13397605" "13397605" "subst" "0.000361743" "01943" "CACNA1A_000210" "g.13397605C>A" "" "" "" "CACNA1A(NM_023035.2):c.3277G>T (p.G1093C), CACNA1A(NM_023035.3):c.3277G>T (p.G1093C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286791C>A" "" "likely benign" "" "0000272421" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "01943" "CACNA1A_000026" "g.13397560C>T" "" "" "" "CACNA1A(NM_023035.2):c.3322G>A (p.G1108S), CACNA1A(NM_023035.3):c.3322G>A (p.G1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000272422" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "01943" "CACNA1A_000027" "g.13397324G>A" "" "" "" "CACNA1A(NM_000068.3):c.3558C>T (p.(Val1186=)), CACNA1A(NM_001127222.2):c.3546C>T (p.V1182=), CACNA1A(NM_023035.2):c.3558C>T (p.V1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286510G>A" "" "benign" "" "0000272423" "0" "50" "19" "13395973" "13395975" "del" "0" "01943" "CACNA1A_000205" "g.13395973_13395975del" "" "" "" "CACNA1A(NM_000068.3):c.3616_3618del (p.(Lys1206del)), CACNA1A(NM_023035.2):c.3616_3618delAAG (p.K1206del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13285159_13285161del" "" "VUS" "" "0000272424" "0" "30" "19" "13368344" "13368344" "subst" "0.000146037" "01943" "CACNA1A_000185" "g.13368344G>A" "" "" "" "CACNA1A(NM_023035.2):c.4422C>T (p.D1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13257530G>A" "" "likely benign" "" "0000272425" "0" "10" "19" "13563767" "13563767" "subst" "0.00222159" "01943" "CACNA1A_000271" "g.13563767G>A" "" "" "" "CACNA1A(NM_000068.3):c.462C>T (p.(Ala154=)), CACNA1A(NM_023035.2):c.462C>T (p.A154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13452953G>A" "" "benign" "" "0000272426" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "01943" "CACNA1A_000038" "g.13341037G>A" "" "" "" "CACNA1A(NM_023035.2):c.5419-14C>T, CACNA1A(NM_023035.3):c.5419-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13230223G>A" "" "benign" "" "0000272427" "0" "30" "19" "13482572" "13482572" "subst" "0" "01943" "CACNA1A_000269" "g.13482572C>T" "" "" "" "CACNA1A(NM_023035.2):c.561G>A (p.T187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13371758C>T" "" "likely benign" "" "0000272430" "0" "10" "19" "13323261" "13323261" "subst" "0.0018658" "01943" "CACNA1A_000153" "g.13323261C>T" "" "" "" "CACNA1A(NM_000068.3):c.6144G>A (p.(Thr2048=)), CACNA1A(NM_023035.2):c.6144G>A (p.T2048=), CACNA1A(NM_023035.3):c.6144G>A (p.T2048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212447C>T" "" "benign" "" "0000272432" "0" "10" "19" "13320305" "13320305" "subst" "0" "01943" "CACNA1A_000146" "g.13320305G>C" "" "" "" "CACNA1A(NM_023035.2):c.6365C>G (p.S2122*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13209491G>C" "" "benign" "" "0000272435" "0" "10" "19" "13318806" "13318806" "subst" "0" "01943" "CACNA1A_000129" "g.13318806C>T" "" "" "" "CACNA1A(NM_023035.2):c.6860G>A (p.R2287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207992C>T" "" "benign" "" "0000272436" "0" "10" "19" "13318707" "13318712" "del" "0" "01943" "CACNA1A_000088" "g.13318707_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*178del (p.(=)), CACNA1A(NM_023035.2):c.6988_6993delCAGCAG (p.Q2330_Q2331del), CACNA1A(NM_023035.3):c.6988_6993delCAGCA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207893_13207898del" "" "benign" "" "0000272438" "0" "10" "19" "13318710" "13318712" "del" "0" "01943" "CACNA1A_000087" "g.13318710_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*175del (p.(=)), CACNA1A(NM_023035.2):c.6991_6993delCAG (p.Q2331del), CACNA1A(NM_023035.3):c.6991_6993delCAG (p.Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898del" "" "benign" "" "0000272439" "0" "10" "19" "13318710" "13318712" "dup" "0" "01943" "CACNA1A_000091" "g.13318710_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*185_*187dup (p.(=)), CACNA1A(NM_023035.2):c.6991_6993dupCAG (p.Q2331dup), CACNA1A(NM_023035.3):c.6991_6993dupCAG (p.Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898dup" "" "benign" "" "0000272441" "0" "30" "19" "13318278" "13318278" "subst" "0" "01943" "CACNA1A_000122" "g.13318278G>T" "" "" "" "CACNA1A(NM_023035.2):c.7388C>A (p.A2463D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207464G>T" "" "likely benign" "" "0000272442" "0" "30" "19" "13318208" "13318208" "subst" "0.00149751" "01943" "CACNA1A_000104" "g.13318208G>C" "" "" "" "CACNA1A(NM_000068.3):c.*652C>G (p.(=)), CACNA1A(NM_023035.2):c.7458C>G (p.H2486Q), CACNA1A(NM_023035.3):c.7458C>G (p.H2486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207394G>C" "" "likely benign" "" "0000272445" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "01943" "CACNA1A_000005" "g.13470522T>C" "" "" "" "CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13359708T>C" "" "benign" "" "0000326238" "0" "50" "19" "13318710" "13318712" "del" "0" "01804" "CACNA1A_000087" "g.13318710_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*175del (p.(=)), CACNA1A(NM_023035.2):c.6991_6993delCAG (p.Q2331del), CACNA1A(NM_023035.3):c.6991_6993delCAG (p.Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207896_13207898del" "" "VUS" "" "0000326239" "0" "50" "19" "13318698" "13318712" "del" "0" "01804" "CACNA1A_000127" "g.13318698_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*161_*175del (p.(=)), CACNA1A(NM_023035.3):c.6979_6993delCAGCAGCAGCAGCAG (p.Q2327_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207884_13207898del" "" "VUS" "" "0000326240" "0" "30" "19" "13318695" "13318712" "del" "0" "01804" "CACNA1A_000090" "g.13318695_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*170_*187del (p.(=)), CACNA1A(NM_001127222.2):c.6958_6975delCAGCAGCAGCAGCAGCAG (p.Q2320_Q2325del), CACNA1A(NM_023035.3):c.69..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207881_13207898del" "" "likely benign" "" "0000326241" "0" "30" "19" "13318707" "13318712" "del" "0" "01804" "CACNA1A_000088" "g.13318707_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*178del (p.(=)), CACNA1A(NM_023035.2):c.6988_6993delCAGCAG (p.Q2330_Q2331del), CACNA1A(NM_023035.3):c.6988_6993delCAGCA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13207893_13207898del" "" "likely benign" "" "0000326245" "0" "50" "19" "13318866" "13318866" "subst" "0" "01804" "CACNA1A_000132" "g.13318866C>T" "" "" "" "CACNA1A(NM_000068.3):c.6799-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208052C>T" "" "VUS" "" "0000326246" "0" "50" "19" "13319717" "13319717" "subst" "0" "01804" "CACNA1A_000137" "g.13319717G>C" "" "" "" "CACNA1A(NM_000068.3):c.6651C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208903G>C" "" "VUS" "" "0000326248" "0" "30" "19" "13395973" "13395975" "del" "0" "01804" "CACNA1A_000205" "g.13395973_13395975del" "" "" "" "CACNA1A(NM_000068.3):c.3616_3618del (p.(Lys1206del)), CACNA1A(NM_023035.2):c.3616_3618delAAG (p.K1206del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13285159_13285161del" "" "likely benign" "" "0000326249" "0" "30" "19" "13397461" "13397461" "subst" "0.000432658" "01804" "CACNA1A_000207" "g.13397461G>C" "" "" "" "CACNA1A(NM_000068.3):c.3421C>G (p.(Pro1141Ala)), CACNA1A(NM_001127221.2):c.3412C>G (p.P1138A), CACNA1A(NM_023035.2):c.3421C>G (p.P1141A), CACNA1A...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286647G>C" "" "likely benign" "" "0000326252" "0" "50" "19" "13446642" "13446642" "subst" "0" "01804" "CACNA1A_000260" "g.13446642G>A" "" "" "" "CACNA1A(NM_000068.3):c.1060C>T (p.(Leu354Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13335828G>A" "" "VUS" "" "0000339011" "0" "50" "19" "13482532" "13482532" "subst" "0" "02327" "CACNA1A_000267" "g.13482532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13371718G>A" "" "VUS" "" "0000339398" "0" "10" "19" "13319693" "13319693" "subst" "0" "02327" "CACNA1A_000046" "g.13319693A>G" "" "" "" "CACNA1A(NM_000068.3):c.6675delinsC (p.(His2225=)), CACNA1A(NM_023035.2):c.6675T>C (p.H2225=), CACNA1A(NM_023035.3):c.6675T>C (p.H2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208879A>G" "" "benign" "" "0000339402" "0" "30" "19" "13368344" "13368344" "subst" "0.000146037" "02327" "CACNA1A_000185" "g.13368344G>A" "" "" "" "CACNA1A(NM_023035.2):c.4422C>T (p.D1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13257530G>A" "" "likely benign" "" "0000339404" "0" "10" "19" "13387904" "13387904" "subst" "0.195237" "02327" "CACNA1A_000029" "g.13387904A>G" "" "" "" "CACNA1A(NM_023035.2):c.3873T>C (p.F1291=), CACNA1A(NM_023035.3):c.3873T>C (p.F1291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13277090A>G" "" "benign" "" "0000339405" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "02327" "CACNA1A_000027" "g.13397324G>A" "" "" "" "CACNA1A(NM_000068.3):c.3558C>T (p.(Val1186=)), CACNA1A(NM_001127222.2):c.3546C>T (p.V1182=), CACNA1A(NM_023035.2):c.3558C>T (p.V1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286510G>A" "" "benign" "" "0000339406" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "02327" "CACNA1A_000024" "g.13409390C>T" "" "" "" "CACNA1A(NM_023035.2):c.3069G>A (p.R1023=), CACNA1A(NM_023035.3):c.3069G>A (p.R1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298576C>T" "" "benign" "" "0000339407" "0" "10" "19" "13419235" "13419235" "subst" "0.0111273" "02327" "CACNA1A_000012" "g.13419235G>C" "" "" "" "CACNA1A(NM_000068.3):c.1779C>G (p.(Val593=)), CACNA1A(NM_023035.2):c.1779C>G (p.V593=), CACNA1A(NM_023035.3):c.1779C>G (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13308421G>C" "" "benign" "" "0000339411" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "02327" "CACNA1A_000005" "g.13470522T>C" "" "" "" "CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13359708T>C" "" "benign" "" "0000339412" "0" "10" "19" "13482554" "13482554" "subst" "0.0103272" "02327" "CACNA1A_000003" "g.13482554C>T" "" "" "" "CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13371740C>T" "" "benign" "" "0000340761" "0" "10" "19" "13445208" "13445208" "subst" "0.688376" "02327" "CACNA1A_000007" "g.13445208C>T" "" "" "" "CACNA1A(NM_023035.2):c.1182G>A (p.E394=), CACNA1A(NM_023035.3):c.1182G>A (p.E394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13334394C>T" "" "benign" "" "0000341627" "0" "30" "19" "13409673" "13409673" "subst" "0" "02327" "CACNA1A_000216" "g.13409673G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298859G>A" "" "likely benign" "" "0000341980" "0" "70" "19" "13366031" "13366031" "subst" "0" "02327" "CACNA1A_000180" "g.13366031G>A" "" "" "" "CACNA1A(NM_001127222.2):c.4633C>T (p.R1545*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13255217G>A" "" "likely pathogenic" "" "0000342042" "0" "70" "19" "13346516" "13346516" "subst" "0" "02327" "CACNA1A_000175" "g.13346516C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4982G>A (p.R1661H), CACNA1A(NM_023035.3):c.4997G>A (p.R1666H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13235702C>T" "" "likely pathogenic" "" "0000342129" "0" "70" "19" "13339572" "13339572" "subst" "0" "02327" "CACNA1A_000166" "g.13339572G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13228758G>A" "" "likely pathogenic" "" "0000342214" "0" "50" "19" "13323017" "13323017" "subst" "1.22049E-5" "02327" "CACNA1A_000152" "g.13323017C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212203C>T" "" "VUS" "" "0000342227" "0" "50" "19" "13322954" "13322954" "subst" "1.2233E-5" "02327" "CACNA1A_000150" "g.13322954C>T" "" "" "" "CACNA1A(NM_001127221.1):c.6269G>A (p.(Arg2090Gln)), CACNA1A(NM_001127221.2):c.6269G>A (p.R2090Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212140C>T" "" "VUS" "" "0000342298" "0" "50" "19" "13319736" "13319736" "subst" "2.9519E-5" "02327" "CACNA1A_000138" "g.13319736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13208922C>T" "" "VUS" "" "0000342877" "0" "50" "19" "13441142" "13441142" "subst" "0" "02327" "CACNA1A_000246" "g.13441142G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13330328G>A" "" "VUS" "" "0000343414" "0" "90" "19" "13409932" "13409933" "ins" "0" "02327" "CACNA1A_000220" "g.13409932_13409933insCCGG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13299118_13299119insCCGG" "" "pathogenic" "" "0000345033" "0" "10" "19" "13409407" "13409407" "subst" "0.00348005" "02327" "CACNA1A_000023" "g.13409407C>T" "" "" "" "CACNA1A(NM_000068.3):c.3052G>A (p.(Glu1018Lys)), CACNA1A(NM_023035.2):c.3052G>A (p.E1018K), CACNA1A(NM_023035.3):c.3052G>A (p.E1018K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298593C>T" "" "benign" "" "0000345591" "0" "10" "19" "13409696" "13409696" "subst" "0" "02327" "CACNA1A_000018" "g.13409696C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298882C>T" "" "benign" "" "0000345612" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "02327" "CACNA1A_000022" "g.13409472T>A" "" "" "" "CACNA1A(NM_023035.2):c.2987A>T (p.E996V), CACNA1A(NM_023035.3):c.2987A>T (p.E996V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13298658T>A" "" "benign" "" "0000345646" "0" "10" "19" "13397560" "13397560" "subst" "0.108637" "02327" "CACNA1A_000026" "g.13397560C>T" "" "" "" "CACNA1A(NM_023035.2):c.3322G>A (p.G1108S), CACNA1A(NM_023035.3):c.3322G>A (p.G1108S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13286746C>T" "" "benign" "" "0000345834" "0" "50" "19" "13323497" "13323497" "subst" "0" "02327" "CACNA1A_000154" "g.13323497C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13212683C>T" "" "VUS" "" "0000347944" "0" "90" "19" "13386704" "13386704" "del" "0" "02327" "CACNA1A_000198" "g.13386704del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13275890del" "" "pathogenic" "" "0000347974" "0" "50" "19" "13482567" "13482567" "subst" "0" "02327" "CACNA1A_000268" "g.13482567A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13371753A>G" "" "VUS" "" "0000349608" "0" "10" "19" "13414594" "13414594" "subst" "0.164445" "02327" "CACNA1A_000015" "g.13414594C>T" "" "" "" "CACNA1A(NM_023035.2):c.2094G>A (p.T698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13303780C>T" "" "benign" "" "0000350890" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "02327" "CACNA1A_000038" "g.13341037G>A" "" "" "" "CACNA1A(NM_023035.2):c.5419-14C>T, CACNA1A(NM_023035.3):c.5419-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13230223G>A" "" "benign" "" "0000350892" "0" "90" "19" "13394080" "13394080" "subst" "0" "02327" "CACNA1A_000202" "g.13394080C>T" "" "" "" "CACNA1A(NM_023035.3):c.3834+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13283266C>T" "" "pathogenic" "" "0000350893" "0" "10" "19" "13411482" "13411482" "subst" "0.754805" "02327" "CACNA1A_000224" "g.13411482G>A" "" "" "" "CACNA1A(NM_001127221.1):c.2176-12C>T, CACNA1A(NM_023035.2):c.2185-12C>T, CACNA1A(NM_023035.3):c.2185-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13300668G>A" "" "benign" "" "0000352490" "0" "50" "19" "13320212" "13320212" "subst" "0" "01807" "CACNA1A_000143" "g.13320212T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13209398T>C" "" "VUS" "" "0000352496" "0" "70" "19" "13339611" "13339611" "subst" "0" "01807" "CACNA1A_000167" "g.13339611T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13228797T>G" "" "likely pathogenic" "" "0000369274" "21" "50" "19" "13325107" "13325107" "subst" "0" "00006" "CACNA1A_000157" "g.13325107C>T" "" "{PMID:Guissart 2018:29656859}" "" "CACNA1A:c.5883G>A" "" "Germline" "" "" "0" "" "" "g.13214293C>T" "" "VUS" "" "0000392039" "11" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000113" "g.(13318647_13318737)[ins39]" "" "{PMID:Shimazaki 2001:11311290}" "" "CAG-26" "de novo repeat expansion from 20 to 26 units" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000392040" "21" "10" "19" "13318647" "13318737" "" "0" "00006" "CACNA1A_000114" "g.13318647_13318737=" "" "{PMID:Shimazaki 2001:11311290}" "" "" "" "Germline" "" "" "0" "" "" "g.13207833_13207923=" "" "benign" "" "0000392041" "11" "70" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000112" "g.(13318647_13318737)[ins24]" "" "{PMID:Shimazaki 2001:11311290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000392042" "21" "50" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000111" "g.(13318647_13318737)[ins21]" "" "{PMID:Shimazaki 2001:11311290}" "" "" "de novo repeat expansion from 19 to 20 units" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000438145" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:15003170:van den Maagdenberg 2004}" "" "" "tested expression in vitro/in vivo" "animal model" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000438146" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID16111830:Kaja 2005}" "" "" "tested expression in vitro/in vivo" "animal model" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000438147" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:19285472:Tottene 2009}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438148" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID19847904:Eikermann-Haerter 2009}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438149" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID12235360:Tottene 2002}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438150" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID12527722:Mellit 2003}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438151" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID15294146:Cao 2004}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438152" "0" "77" "19" "13482558" "13482558" "subst" "0" "00753" "CACNA1A_000002" "g.13482558C>T" "" "{PMID15699344:Cao 2005}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13371744C>T" "" "NA" "" "0000438153" "0" "55" "19" "13476262" "13476262" "subst" "0" "00753" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:15743764:Tottene 2005}" "" "" "tested expression in vitro/in vivo" "In vitro (cloned)" "" "" "0" "" "" "g.13365448G>A" "" "NA" "" "0000438154" "0" "77" "19" "13419266" "13419266" "subst" "4.06643E-6" "00753" "CACNA1A_000011" "g.13419266C>T" "" "{PMID10734061:Kraus 2000}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13308452C>T" "" "NA" "" "0000438155" "0" "77" "19" "13414691" "13414691" "subst" "4.08714E-6" "00753" "CACNA1A_000014" "g.13414691G>A" "" "{PMID12235360:Tottene 2002}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303877G>A" "" "NA" "" "0000438156" "0" "77" "19" "13414691" "13414691" "subst" "4.08714E-6" "00753" "CACNA1A_000014" "g.13414691G>A" "" "{PMID15294146:Cao 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303877G>A" "" "NA" "" "0000438157" "0" "77" "19" "13414691" "13414691" "subst" "4.08714E-6" "00753" "CACNA1A_000014" "g.13414691G>A" "" "{PMID15699344:Cao 2005}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303877G>A" "" "NA" "" "0000438158" "0" "77" "19" "13414691" "13414691" "subst" "4.08714E-6" "00753" "CACNA1A_000014" "g.13414691G>A" "" "{PMID15795222:Barrett 2005}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303877G>A" "" "NA" "" "0000438159" "0" "77" "19" "13414394" "13414394" "subst" "0" "00753" "CACNA1A_000016" "g.13414394A>G" "" "{PMID12235360:Tottene 2002}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303580A>G" "" "NA" "" "0000438160" "0" "77" "19" "13414394" "13414394" "subst" "0" "00753" "CACNA1A_000016" "g.13414394A>G" "" "{PMID15294146:Cao 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303580A>G" "" "NA" "" "0000438161" "0" "77" "19" "13414394" "13414394" "subst" "0" "00753" "CACNA1A_000016" "g.13414394A>G" "" "{PMID15699344:Cao 2005}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303580A>G" "" "NA" "" "0000438162" "0" "77" "19" "13414390" "13414390" "subst" "0" "00753" "CACNA1A_000017" "g.13414390G>C" "" "{PMID10734061:Kraus 2000}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13303576G>C" "" "NA" "" "0000438163" "0" "77" "19" "13370403" "13370403" "subst" "0" "00753" "CACNA1A_000035" "g.13370403C>A" "" "{PMID10734061:Kraus 2000}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13259589C>A" "" "NA" "" "0000438164" "0" "77" "19" "13370403" "13370403" "subst" "0" "00753" "CACNA1A_000035" "g.13370403C>A" "" "{PMID12235360:Tottene 2002}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13259589C>A" "" "NA" "" "0000438165" "0" "55" "19" "13340999" "13340999" "subst" "0" "00753" "CACNA1A_000039" "g.13340999T>G" "" "{PMID15557518:Terwindt 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13230185T>G" "" "NA" "" "0000438166" "0" "55" "19" "13340999" "13340999" "subst" "0" "00753" "CACNA1A_000039" "g.13340999T>G" "" "{PMID15699344:Cao 2005}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13230185T>G" "" "NA" "" "0000438167" "0" "55" "19" "13340999" "13340999" "subst" "0" "00753" "CACNA1A_000039" "g.13340999T>G" "" "{PMID15294146:Cao 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13230185T>G" "" "NA" "" "0000438168" "0" "77" "19" "13346451" "13346451" "subst" "0" "00753" "CACNA1A_000052" "g.13346451A>T" "" "{PMID15448138:Mullner 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13235637A>T" "" "NA" "" "0000438169" "0" "77" "19" "13373637" "13373637" "subst" "0" "00753" "CACNA1A_000054" "g.13373637T>C" "" "{PMID15448138:Mullner 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13262823T>C" "" "NA" "" "0000438170" "0" "77" "19" "13346076" "13346076" "subst" "0" "00753" "CACNA1A_000056" "g.13346076C>T" "" "{PMID15448138:Mullner 2004}" "" "" "tested expression in vitro" "In vitro (cloned)" "" "" "0" "" "" "g.13235262C>T" "" "NA" "" "0000439421" "0" "30" "19" "13617112" "13617114" "dup" "0" "00000" "CACNA1A_000001" "g.13617112_13617114dup" "0.04 in 150" "{PMID:Battistini 1999:10408534}" "" "-54_-53insGGC" "" "Germline" "" "" "0" "" "" "g.13506298_13506300dup" "" "likely benign" "" "0000439422" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439423" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439424" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439425" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439426" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439427" "0" "70" "19" "13482558" "13482558" "subst" "0" "00000" "CACNA1A_000002" "g.13482558C>T" "" "{PMID:Ophoff 1996:8898206}" "SfcI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13371744C>T" "" "likely pathogenic" "" "0000439428" "0" "30" "19" "13482554" "13482554" "subst" "0.0103272" "00000" "CACNA1A_000003" "g.13482554C>T" "0.02 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "rs41276894" "0" "" "" "g.13371740C>T" "" "likely benign" "" "0000439429" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439430" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439431" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439432" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439433" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439434" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439435" "0" "90" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Kors 2001:11409427}" "" "" "tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439436" "0" "30" "19" "13470522" "13470522" "subst" "0.0605509" "00000" "CACNA1A_000005" "g.13470522T>C" "0.07 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "rs16006" "0" "" "" "g.13359708T>C" "" "likely benign" "" "0000439437" "0" "50" "19" "13470306" "13470306" "subst" "0" "00000" "CACNA1A_000006" "g.13470306C>T" "0.05 in 150" "{PMID:Carrera 1999:10408532}" "" "" "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" "" "" "" "" "VUS" "" "0000439438" "0" "30" "19" "13445208" "13445208" "subst" "0.688376" "00000" "CACNA1A_000007" "g.13445208C>T" "0.38 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "rs2248069" "0" "" "" "g.13334394C>T" "" "likely benign" "" "0000439439" "0" "50" "19" "13445144" "13445144" "subst" "0.68912" "00000" "CACNA1A_000008" "g.13445144C>T" "" "" "" "" "" "Germline" "" "rs2306348" "0" "" "" "g.13334330C>T" "" "VUS" "" "0000439440" "0" "30" "19" "13443770" "13443770" "subst" "0.819558" "00000" "CACNA1A_000009" "g.13443770T>C" "0.6 in 150" "{PMID:Carrera 1999:10408532}" "" "" "" "Germline" "" "rs16008" "0" "" "" "g.13332956T>C" "" "likely benign" "" "0000439441" "0" "30" "19" "13428124" "13428124" "subst" "0.00455098" "00000" "CACNA1A_000010" "g.13428124C>T" "0.02 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "rs41276886" "0" "" "" "g.13317310C>T" "" "likely benign" "" "0000439442" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439443" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439444" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439445" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439446" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439447" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439448" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439449" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439450" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439451" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439452" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439453" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439454" "0" "97" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Battistini 1999:10408534}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "pathogenic" "" "0000439455" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439456" "0" "50" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Alonso 2003:12707077}" "" "" "" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "VUS" "" "0000439457" "0" "97" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Battistini 1999:10408534}" "" "c.2023G>A" "not in 150 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "pathogenic" "" "0000439458" "0" "97" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Battistini 1999:10408534}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "pathogenic" "" "0000439459" "0" "50" "19" "13419235" "13419235" "subst" "0.0111273" "00000" "CACNA1A_000012" "g.13419235G>C" "" "" "" "" "" "Germline" "" "rs16012" "0" "" "" "g.13308421G>C" "" "VUS" "" "0000439460" "0" "50" "19" "13418707" "13418707" "subst" "0.139661" "00000" "CACNA1A_000013" "g.13418707C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13307893C>T" "" "VUS" "" "0000439461" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439462" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439463" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439464" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439465" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439466" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439467" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439468" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439469" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439470" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439471" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439472" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439473" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439474" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439475" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439476" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439477" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439478" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439479" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439480" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439481" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439482" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439483" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439484" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439485" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439486" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439487" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439488" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439489" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439490" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439491" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Elliot 1996:8572654}, {PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439492" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439493" "0" "50" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Kors 2003:12756131}, {PMID:Ophoff 1996:08898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "VUS" "" "0000439494" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439495" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439496" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439497" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}, {PMID:Joutel 1993:8220421}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439498" "0" "30" "19" "13414594" "13414594" "subst" "0.164445" "00000" "CACNA1A_000015" "g.13414594C>T" "0.12 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "rs16016" "0" "" "" "g.13303780C>T" "" "likely benign" "" "0000439499" "0" "70" "19" "13414394" "13414394" "subst" "0" "00000" "CACNA1A_000016" "g.13414394A>G" "" "{PMID:Ophoff 1996:8898206}" "BbvI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303580A>G" "" "likely pathogenic" "" "0000439500" "0" "50" "19" "13409696" "13409696" "subst" "0" "00000" "CACNA1A_000018" "g.13409696C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298882C>T" "" "VUS" "" "0000439501" "0" "30" "19" "13409696" "13409696" "subst" "0.126413" "00000" "CACNA1A_000019" "g.13409696C>G" "0.07 in 100" "" "" "" "" "Germline" "" "rs16022" "0" "" "" "g.13298882C>G" "" "likely benign" "" "0000439502" "0" "50" "19" "13409603" "13409603" "subst" "0.000741719" "00000" "CACNA1A_000020" "g.13409603G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298789G>C" "" "VUS" "" "0000439503" "0" "50" "19" "13409595" "13409595" "subst" "0" "00000" "CACNA1A_000021" "g.13409595G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13298781G>A" "" "VUS" "" "0000439504" "0" "30" "19" "13409472" "13409472" "subst" "0.137077" "00000" "CACNA1A_000022" "g.13409472T>A" "0.62 in 150" "{PMID:Carrera 1999:10408532}" "" "c.3253A>T" "" "Germline" "" "rs16023" "0" "" "" "g.13298658T>A" "" "likely benign" "" "0000439505" "0" "50" "19" "13409407" "13409407" "subst" "0.00348005" "00000" "CACNA1A_000023" "g.13409407C>T" "" "" "" "" "" "Germline" "" "rs16024" "0" "" "" "g.13298593C>T" "" "VUS" "" "0000439506" "0" "30" "19" "13409390" "13409390" "subst" "0.132992" "00000" "CACNA1A_000024" "g.13409390C>T" "0.62 in 150" "{PMID:Carrera 1999:10408532}" "" "c.3335G>A" "" "Germline" "" "rs16025" "0" "" "" "g.13298576C>T" "" "likely benign" "" "0000439507" "0" "50" "19" "13397695" "13397695" "subst" "4.5279E-5" "00000" "CACNA1A_000025" "g.13397695G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13286881G>A" "" "VUS" "" "0000439508" "0" "30" "19" "13397560" "13397560" "subst" "0.108637" "00000" "CACNA1A_000026" "g.13397560C>T" "0.25 in 100" "{PMID:Ducros 1999:9915947}" "" "" "" "Germline" "" "rs16027" "0" "" "" "g.13286746C>T" "" "likely benign" "" "0000439509" "0" "30" "19" "13397324" "13397324" "subst" "0.0173138" "00000" "CACNA1A_000027" "g.13397324G>A" "0.02 in 150" "{PMID:Carrera 1999:10408532}" "" "c.3824C>T" "" "Germline" "" "rs16029" "0" "" "" "g.13286510G>A" "" "likely benign" "" "0000439510" "0" "50" "19" "13397323" "13397323" "subst" "6.56748E-5" "00000" "CACNA1A_000028" "g.13397323C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13286509C>T" "" "VUS" "" "0000439511" "0" "30" "19" "13387904" "13387904" "subst" "0.195237" "00000" "CACNA1A_000029" "g.13387904A>G" "0.22 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13277090A>G" "" "likely benign" "" "0000439512" "0" "50" "19" "13373617" "13373617" "subst" "3.25667E-5" "00000" "CACNA1A_000030" "g.13373617C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13262803C>A" "" "VUS" "" "0000439513" "0" "90" "19" "13372366" "13372366" "subst" "0" "00000" "CACNA1A_000031" "g.13372366T>C" "" "{PMID:Vahedi 2000:11061267}" "" "" "not in 200 controls" "De novo" "" "" "0" "" "" "g.13261552T>C" "" "pathogenic" "" "0000439514" "0" "50" "19" "13370543" "13370543" "subst" "4.22822E-5" "00000" "CACNA1A_000032" "g.13370543A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13259729A>T" "" "VUS" "" "0000439515" "0" "50" "19" "13370446" "13370446" "subst" "0" "00000" "CACNA1A_000033" "g.13370446G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13259632G>A" "" "VUS" "" "0000439516" "0" "50" "19" "13370428" "13370428" "subst" "7.47633E-5" "00000" "CACNA1A_000034" "g.13370428C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13259614C>T" "" "VUS" "" "0000439517" "0" "97" "19" "13370403" "13370403" "subst" "0" "00000" "CACNA1A_000035" "g.13370403C>A" "" "{PMID:Carrera 1999:10408532}" "" "c.4644G>T" "not in 150 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13259589C>A" "" "pathogenic" "" "0000439518" "0" "50" "19" "13368263" "13368263" "subst" "0" "00000" "CACNA1A_000036" "g.13368263G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13257449G>C" "" "VUS" "" "0000439519" "0" "50" "19" "13346408" "13346408" "subst" "0.00196769" "00000" "CACNA1A_000037" "g.13346408C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13235594C>T" "" "VUS" "" "0000439520" "0" "50" "19" "13341037" "13341037" "subst" "0.198263" "00000" "CACNA1A_000038" "g.13341037G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13230223G>A" "" "VUS" "" "0000439521" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439522" "0" "70" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro/in vivo" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "likely pathogenic" "" "0000439523" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439524" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Ophoff 1994:7959770}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439525" "0" "70" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "likely pathogenic" "" "0000439526" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439527" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439528" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439529" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439530" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439531" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439532" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Haan 1994:7988094}, {PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439533" "0" "50" "19" "13340999" "13340999" "subst" "0" "00000" "CACNA1A_000039" "g.13340999T>G" "" "{PMID:Terwindt 1998:9566402}, {PMID:Ophoff 1996:8898206}" "MnlI" "" "not in 100 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13230185T>G" "" "VUS" "" "0000439534" "0" "50" "19" "13340872" "13340872" "subst" "0" "00000" "CACNA1A_000040" "g.13340872G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13230058G>A" "" "VUS" "" "0000439535" "0" "30" "19" "13325415" "13325415" "subst" "0.00317654" "00000" "CACNA1A_000041" "g.13325415G>A" "0.0066 in 150" "{PMID:Carrera 1999:10408532}" "" "c.6020C>T" "" "Germline" "" "rs16044" "0" "" "" "g.13214601G>A" "" "likely benign" "" "0000439536" "0" "50" "19" "13325090" "13325090" "subst" "0.00056008" "00000" "CACNA1A_000042" "g.13325090C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13214276C>T" "" "VUS" "" "0000439537" "0" "50" "19" "13323339" "13323339" "subst" "0" "00000" "CACNA1A_000043" "g.13323339G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13212525G>T" "" "VUS" "" "0000439538" "0" "50" "19" "13323008" "13323008" "subst" "0" "00000" "CACNA1A_000044" "g.13323008C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13212194C>T" "" "VUS" "" "0000439539" "0" "50" "19" "13321369" "13321369" "subst" "0" "00000" "CACNA1A_000045" "g.13321369G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13210555G>T" "" "VUS" "" "0000439540" "0" "30" "19" "13319693" "13319693" "subst" "0" "00000" "CACNA1A_000046" "g.13319693A>G" "0.46 in 100" "{PMID:Ophoff 1996:8898206}" "" "" "" "Germline" "" "" "0" "" "" "g.13208879A>G" "" "likely benign" "" "0000439541" "0" "50" "19" "13319687" "13319687" "subst" "4.7195E-5" "00000" "CACNA1A_000047" "g.13319687C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13208873C>T" "" "VUS" "" "0000439542" "0" "50" "19" "13318811" "13318811" "subst" "0.049794" "00000" "CACNA1A_000048" "g.13318811C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13207997C>T" "" "VUS" "" "0000439543" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Freilinger 2008:18279427}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439544" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Freilinger 2008:18279427}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439545" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Freilinger 2008:18279427}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439546" "21" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Freilinger 2008:18279427}" "" "" "tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439547" "21" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Freilinger 2008:18279427}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439548" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439549" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439550" "21" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439551" "21" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439552" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439553" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439554" "21" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439555" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439556" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439557" "21" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439558" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439559" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439560" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439561" "21" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439562" "11" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439563" "21" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439564" "21" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439565" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439566" "10" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439567" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439568" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439569" "11" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 92 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439570" "0" "50" "19" "13372411" "13372411" "subst" "0" "00000" "CACNA1A_000049" "g.13372411C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.13261597C>T" "" "VUS" "" "0000439571" "0" "50" "19" "13372411" "13372411" "subst" "0" "00000" "CACNA1A_000049" "g.13372411C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.13261597C>T" "" "VUS" "" "0000439572" "11" "50" "19" "13372411" "13372411" "subst" "0" "00000" "CACNA1A_000049" "g.13372411C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.13261597C>T" "" "VUS" "" "0000439573" "0" "50" "19" "13372411" "13372411" "subst" "0" "00000" "CACNA1A_000049" "g.13372411C>T" "" "{PMID:Thomsen 2007:17142831}" "" "" "not in 460 controls" "Germline" "" "" "0" "" "" "g.13261597C>T" "" "VUS" "" "0000439574" "0" "70" "19" "13346076" "13346076" "subst" "0" "00000" "CACNA1A_000050" "g.13346076C>A" "" "{PMID:de Vries 2008:18498393}" "" "5361G>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13235262C>A" "" "likely pathogenic" "" "0000439575" "0" "70" "19" "13346076" "13346076" "subst" "0" "00000" "CACNA1A_000050" "g.13346076C>A" "" "{PMID:de Vries 2008:18498393}" "" "5361G>T" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13235262C>A" "" "likely pathogenic" "" "0000439576" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439577" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439578" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439579" "21" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439580" "21" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439581" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439582" "11" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439583" "11" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439584" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Stam 2008:18400034}" "HinfI-" "4040G>A" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439585" "21" "97" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Terwindt 2002:12056940}, {PMID:De Vries 2007:18056581}" "" "" "not in 300 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "pathogenic" "" "0000439586" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Terwindt 2002:12056940}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439587" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439588" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439589" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439590" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439591" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439592" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439593" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439594" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439595" "20" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439596" "10" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439597" "0" "97" "19" "13414390" "13414390" "subst" "0" "00000" "CACNA1A_000017" "g.13414390G>C" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303576G>C" "" "pathogenic" "" "0000439598" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439599" "0" "97" "19" "13346451" "13346451" "subst" "0" "00000" "CACNA1A_000052" "g.13346451A>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13235637A>T" "" "pathogenic" "" "0000439600" "0" "70" "19" "13419266" "13419266" "subst" "4.06643E-6" "00000" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13308452C>T" "" "likely pathogenic" "" "0000439601" "0" "97" "19" "13346499" "13346499" "subst" "0" "00000" "CACNA1A_000053" "g.13346499G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13235685G>A" "" "pathogenic" "" "0000439602" "0" "97" "19" "13373637" "13373637" "subst" "0" "00000" "CACNA1A_000054" "g.13373637T>C" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13262823T>C" "" "pathogenic" "" "0000439603" "0" "97" "19" "13482549" "13482549" "subst" "0" "00000" "CACNA1A_000055" "g.13482549C>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13371735C>T" "" "pathogenic" "" "0000439604" "0" "97" "19" "13346499" "13346499" "subst" "0" "00000" "CACNA1A_000053" "g.13346499G>A" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13235685G>A" "" "pathogenic" "" "0000439605" "0" "97" "19" "13346076" "13346076" "subst" "0" "00000" "CACNA1A_000056" "g.13346076C>T" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13235262C>T" "" "pathogenic" "" "0000439606" "0" "70" "19" "13372366" "13372366" "subst" "0" "00000" "CACNA1A_000031" "g.13372366T>C" "" "{PMID:Ducros 2001:11439943}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13261552T>C" "" "likely pathogenic" "" "0000439607" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 2001:11439943}" "" "T666M" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439608" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439609" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439610" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439611" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439612" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439613" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439614" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439615" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439616" "0" "70" "19" "13414390" "13414390" "subst" "0" "00000" "CACNA1A_000017" "g.13414390G>C" "" "{PMID:Ducros 1999:9915947} {PMID:Joutel 1994:7977376}" "" "" "not in 200 controls; tested expression in vitro" "Germline" "" "" "0" "" "" "g.13303576G>C" "" "likely pathogenic" "" "0000439617" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Takahashi 2002:11971066}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439618" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Takahashi 2002:11971066}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439619" "0" "30" "19" "13470522" "13470522" "subst" "0.0605509" "00000" "CACNA1A_000005" "g.13470522T>C" "0.07 in 100" "{PMID:Ducros 1999:9915947}" "" "" "" "Germline" "" "rs16006" "0" "" "" "g.13359708T>C" "" "likely benign" "" "0000439620" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Ducros 1999:9915947}" "" "" "not in 200 controls" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439621" "10" "70" "19" "13428124" "13428124" "subst" "0.00455098" "00000" "CACNA1A_000010" "g.13428124C>T" "" "{PMID:Cricchi 2007:17292920}" "HphI+" "" "not in 360 controls" "Germline" "" "rs41276886" "0" "" "" "g.13317310C>T" "" "likely pathogenic" "" "0000439622" "0" "70" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Chan 2008:18313928}" "" "935C>T" "" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "likely pathogenic" "" "0000439623" "0" "70" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Chan 2008:18313928}" "" "935C>T" "" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "likely pathogenic" "" "0000439624" "0" "70" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Chan 2008:18313928}" "" "935C>T" "" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "likely pathogenic" "" "0000439625" "0" "30" "19" "13482554" "13482554" "subst" "0.0103272" "00000" "CACNA1A_000003" "g.13482554C>T" "0.02 in 100" "{PMID:Ducros 1999:9915947}" "" "" "" "Germline" "" "rs41276894" "0" "" "" "g.13371740C>T" "" "likely benign" "" "0000439626" "0" "30" "19" "13414594" "13414594" "subst" "0.164445" "00000" "CACNA1A_000015" "g.13414594C>T" "0.12 in 100" "{PMID:Ducros 1999:9915947}" "" "" "" "Germline" "" "rs16016" "0" "" "" "g.13303780C>T" "" "likely benign" "" "0000439627" "10" "70" "19" "13428124" "13428124" "subst" "0.00455098" "00000" "CACNA1A_000010" "g.13428124C>T" "" "{PMID:Cricchi 2007:17292920}" "HphI+" "" "not in 360 controls" "Germline" "" "rs41276886" "0" "" "" "g.13317310C>T" "" "likely pathogenic" "" "0000439628" "0" "70" "19" "13346033" "13346033" "subst" "0" "00000" "CACNA1A_000057" "g.13346033A>G" "" "{PMID:Beauvais 2004:15240985}" "" "c.5129T>C" "" "Germline" "" "" "0" "" "" "g.13235219A>G" "" "likely pathogenic" "" "0000439629" "20" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Alonso, 2004:15032980}" "" "c.4315G>A" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439630" "20" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Alonso, 2004:15032980}" "" "c.4315G>A" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439631" "11" "30" "19" "13409760" "13409760" "subst" "0.00109475" "00000" "CACNA1A_000058" "g.13409760G>C" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.13298946G>C" "" "likely benign" "" "0000439632" "21" "70" "19" "13322985" "13322985" "subst" "1.22026E-5" "00000" "CACNA1A_000059" "g.13322985C>T" "" "{PMID:Thomsen 2008:18513263}" "" "" "not in 184 controls" "Germline" "" "" "0" "" "" "g.13212171C>T" "" "likely pathogenic" "" "0000439633" "0" "97" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Curtain 2006:16638514}" "" "" "" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439634" "0" "70" "19" "13346033" "13346033" "subst" "0" "00000" "CACNA1A_000057" "g.13346033A>G" "" "{PMID:Kors 2004:15452324}" "" "5404T>C" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13235219A>G" "" "likely pathogenic" "" "0000439635" "21" "70" "19" "13346033" "13346033" "subst" "0" "00000" "CACNA1A_000057" "g.13346033A>G" "" "{PMID:Kors 2004:15452324}" "" "5404T>C" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13235219A>G" "" "likely pathogenic" "" "0000439636" "21" "70" "19" "13346033" "13346033" "subst" "0" "00000" "CACNA1A_000057" "g.13346033A>G" "" "{PMID:Kors 2004:15452324}" "" "5404T>C" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13235219A>G" "" "likely pathogenic" "" "0000439637" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Friend 1999:10987655}" "" "2272C-to-T" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439638" "0" "70" "19" "13346453" "13346453" "subst" "0" "00000" "CACNA1A_000060" "g.13346453A>G" "" "ISSN: 0028-3878 Accession: 00006114-199904122-00261" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.13235639A>G" "" "likely pathogenic" "" "0000439639" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439640" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439641" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439642" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439643" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439644" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439645" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439646" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439647" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439648" "0" "97" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic" "" "0000439649" "0" "70" "19" "13366066" "13366066" "subst" "0" "00000" "CACNA1A_000061" "g.13366066C>G" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13255252C>G" "" "likely pathogenic" "" "0000439650" "0" "70" "19" "13366066" "13366066" "subst" "0" "00000" "CACNA1A_000061" "g.13366066C>G" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13255252C>G" "" "likely pathogenic" "" "0000439651" "0" "70" "19" "13366066" "13366066" "subst" "0" "00000" "CACNA1A_000061" "g.13366066C>G" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13255252C>G" "" "likely pathogenic" "" "0000439652" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439653" "0" "70" "19" "13373603" "13373603" "subst" "0" "00000" "CACNA1A_000051" "g.13373603C>T" "" "{PMID:Dichgans 2005:15728280}" "" "" "" "Germline" "" "" "0" "" "" "g.13262789C>T" "" "likely pathogenic" "" "0000439654" "21" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Yabe 2008:18670797}" "" "T666M" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439655" "0" "70" "19" "13414691" "13414691" "subst" "4.08714E-6" "00000" "CACNA1A_000014" "g.13414691G>A" "" "{PMID:Yabe 2008:18670797}" "" "T666M" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "likely pathogenic" "" "0000439657" "10" "70" "19" "13366066" "13366066" "subst" "0" "00000" "CACNA1A_000061" "g.13366066C>G" "" "{PMID:Cuenca-Leòn 2008:18644040}" "-HpyCH4V" "" "not in 128 controls" "Germline" "" "" "0" "" "" "g.13255252C>G" "" "likely pathogenic" "" "0000439658" "20" "70" "19" "13394172" "13394172" "subst" "0" "00000" "CACNA1A_000062" "g.13394172T>C" "" "{PMID:Cuenca-Leòn 2008:18644040}" "+ItaI" "" "not in 128 controls" "Germline" "" "" "0" "" "" "g.13283358T>C" "" "likely pathogenic" "" "0000439659" "10" "70" "19" "13419273" "13419273" "subst" "0" "00000" "CACNA1A_000063" "g.13419273C>T" "" "{PMID:Cuenca-Leòn 2008:18644040}" "+NspI" "" "not in 128 controls" "Germline" "" "" "0" "" "" "g.13308459C>T" "" "likely pathogenic" "" "0000439660" "0" "97" "19" "13476262" "13476262" "subst" "0" "00000" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Zangaladze 2010:20071244}" "" "" "" "Germline" "" "" "0" "" "" "g.13365448G>A" "" "pathogenic" "" "0000439661" "0" "70" "19" "13373594" "13373594" "subst" "0" "00000" "CACNA1A_000064" "g.13373594C>T" "" "{PMID:Malpas 2009:19811514}" "" "" "not in 280 controls" "Germline" "" "" "0" "" "" "g.13262780C>T" "" "likely pathogenic" "" "0000439662" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000105" "g.(13318647_13318737)[ins42]" "1/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439663" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000106" "g.(13318647_13318737)[ins39]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439664" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000106" "g.(13318647_13318737)[ins39]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439665" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000106" "g.(13318647_13318737)[ins39]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439666" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000107" "g.(13318647_13318737)[ins36]" "2/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439667" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000107" "g.(13318647_13318737)[ins36]" "2/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439668" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439669" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439670" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439671" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439672" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439673" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439674" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439675" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439676" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439677" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439678" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439679" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000108" "g.(13318647_13318737)[ins33]" "13/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439680" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439681" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439682" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439683" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439684" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439685" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439686" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439687" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439688" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439689" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000092" "g.(13318647_13318737)[ins30]" "11/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439690" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439691" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439692" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439693" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439694" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439695" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439696" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439697" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439698" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439699" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439700" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439701" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439702" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439703" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439704" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439705" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000109" "g.(13318647_13318737)[ins27]" "16/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439706" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439707" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439708" "1" "90" "19" "13318647" "13318737" "ins" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "3/58 cases" "{PMID:Matsuyama 1997:09259274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439848" "11" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439849" "20" "10" "19" "0" "0" "" "0" "00006" "CACNA1A_000279" "g.(13318647_13318737)[ins15]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000439850" "3" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439851" "11" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439852" "20" "30" "19" "0" "0" "" "0" "00006" "CACNA1A_000279" "g.(13318647_13318737)[ins15]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000439853" "21" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000280" "g.(13318647_13318737)[ins3]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000439854" "3" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439855" "3" "90" "19" "0" "0" "" "0" "00006" "CACNA1A_000110" "g.(13318647_13318737)[ins24]" "" "{PMID:Takiyama 1998:09702684}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000439885" "0" "50" "19" "13320215" "13320215" "subst" "0" "01164" "CACNA1A_000281" "g.13320215T>C" "" "" "" "" "ACMG grading: BP4" "Germline" "" "" "0" "" "" "g.13209401T>C" "" "VUS" "ACMG" "0000439886" "0" "50" "19" "13409686" "13409686" "subst" "0" "01164" "CACNA1A_000282" "g.13409686C>T" "" "" "" "" "ACMG grading: PP3" "Germline" "" "" "0" "" "" "g.13298872C>T" "" "VUS" "ACMG" "0000472591" "0" "90" "19" "13423591" "13423591" "subst" "0" "01807" "CACNA1A_000283" "g.13423591A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13312777A>C" "" "pathogenic" "" "0000478747" "0" "50" "19" "13446633" "13446633" "subst" "0" "01741" "CACNA1A_000284" "g.13446633C>T" "" "" "" "" "variant with pathogenic in silico predictions" "Germline/De novo (untested)" "" "" "0" "" "" "g.13335819C>T" "" "VUS" "" "0000499177" "0" "30" "19" "13409888" "13409888" "subst" "0" "01164" "CACNA1A_000285" "g.13409888G>A" "" "" "" "" "ACMG grading: BP7,BP4" "Germline" "" "rs775485336" "0" "" "" "g.13299074G>A" "" "likely benign" "ACMG" "0000499179" "0" "70" "19" "13341002" "13341002" "subst" "0" "01807" "CACNA1A_000286" "g.13341002C>T" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000499841" "0" "90" "19" "13368326" "13368326" "del" "0" "01807" "CACNA1A_000287" "g.13368326del" "" "" "" "4430_4431delinsA" "" "Unknown" "" "" "0" "" "" "g.13257512del" "" "pathogenic" "" "0000566166" "0" "30" "19" "13318208" "13318208" "subst" "0.00149751" "01804" "CACNA1A_000104" "g.13318208G>C" "" "" "" "CACNA1A(NM_000068.3):c.*652C>G (p.(=)), CACNA1A(NM_023035.2):c.7458C>G (p.H2486Q), CACNA1A(NM_023035.3):c.7458C>G (p.H2486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207394G>C" "" "likely benign" "" "0000566167" "0" "30" "19" "13318208" "13318208" "subst" "0.00149751" "02326" "CACNA1A_000104" "g.13318208G>C" "" "" "" "CACNA1A(NM_000068.3):c.*652C>G (p.(=)), CACNA1A(NM_023035.2):c.7458C>G (p.H2486Q), CACNA1A(NM_023035.3):c.7458C>G (p.H2486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207394G>C" "" "likely benign" "" "0000566168" "0" "30" "19" "13318357" "13318357" "subst" "0.000173784" "01943" "CACNA1A_000288" "g.13318357C>T" "" "" "" "CACNA1A(NM_000068.3):c.*503G>A (p.(=)), CACNA1A(NM_023035.2):c.7309G>A (p.A2437T), CACNA1A(NM_023035.3):c.7309G>A (p.A2437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207543C>T" "" "likely benign" "" "0000566169" "0" "30" "19" "13318357" "13318357" "subst" "0.000173784" "01804" "CACNA1A_000288" "g.13318357C>T" "" "" "" "CACNA1A(NM_000068.3):c.*503G>A (p.(=)), CACNA1A(NM_023035.2):c.7309G>A (p.A2437T), CACNA1A(NM_023035.3):c.7309G>A (p.A2437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207543C>T" "" "likely benign" "" "0000566170" "0" "30" "19" "13318357" "13318357" "subst" "0.000173784" "02325" "CACNA1A_000288" "g.13318357C>T" "" "" "" "CACNA1A(NM_000068.3):c.*503G>A (p.(=)), CACNA1A(NM_023035.2):c.7309G>A (p.A2437T), CACNA1A(NM_023035.3):c.7309G>A (p.A2437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207543C>T" "" "likely benign" "" "0000566171" "0" "30" "19" "13318357" "13318357" "subst" "0.000173784" "02326" "CACNA1A_000288" "g.13318357C>T" "" "" "" "CACNA1A(NM_000068.3):c.*503G>A (p.(=)), CACNA1A(NM_023035.2):c.7309G>A (p.A2437T), CACNA1A(NM_023035.3):c.7309G>A (p.A2437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207543C>T" "" "likely benign" "" "0000566172" "0" "50" "19" "13318379" "13318384" "del" "0" "01804" "CACNA1A_000289" "g.13318379_13318384del" "" "" "" "CACNA1A(NM_000068.3):c.*478_*483del (p.(=)), CACNA1A(NM_023035.3):c.7284_7289delCAGCGG (p.S2429_G2430del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207565_13207570del" "" "VUS" "" "0000566173" "0" "30" "19" "13318386" "13318386" "subst" "0.00166945" "02326" "CACNA1A_000290" "g.13318386G>A" "" "" "" "CACNA1A(NM_023035.2):c.7280C>T (p.P2427L), CACNA1A(NM_023035.3):c.7280C>T (p.P2427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207572G>A" "" "likely benign" "" "0000566174" "0" "30" "19" "13318387" "13318387" "subst" "0.00161077" "02326" "CACNA1A_000291" "g.13318387G>C" "" "" "" "CACNA1A(NM_023035.2):c.7279C>G (p.P2427A), CACNA1A(NM_023035.3):c.7279C>G (p.P2427A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207573G>C" "" "likely benign" "" "0000566175" "0" "30" "19" "13318459" "13318459" "subst" "0.000155692" "01804" "CACNA1A_000292" "g.13318459C>T" "" "" "" "CACNA1A(NM_000068.3):c.*401G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207645C>T" "" "likely benign" "" "0000566177" "0" "10" "19" "13318668" "13318673" "del" "0" "01943" "CACNA1A_000125" "g.13318668_13318673del" "" "" "" "CACNA1A(NM_023035.2):c.6993_6998delCAGCAG (p.V2333_A2334del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207854_13207859del" "" "benign" "" "0000566178" "0" "30" "19" "13318670" "13318673" "del" "0" "01804" "CACNA1A_000294" "g.13318670_13318673del" "" "" "" "CACNA1A(NM_000068.3):c.*188_*191del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207856_13207859del" "" "likely benign" "" "0000566180" "0" "30" "19" "13318677" "13318690" "del" "0" "01804" "CACNA1A_000296" "g.13318677_13318690del" "" "" "" "CACNA1A(NM_000068.3):c.*170_*183del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207863_13207876del" "" "likely benign" "" "0000566181" "0" "30" "19" "13318686" "13318712" "del" "0" "01804" "CACNA1A_000297" "g.13318686_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*161_*187del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207872_13207898del" "" "likely benign" "" "0000566183" "0" "30" "19" "13318704" "13318712" "del" "0" "01804" "CACNA1A_000089" "g.13318704_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*161_*169del (p.(=)), CACNA1A(NM_023035.3):c.6985_6993delCAGCAGCAG (p.Q2329_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207890_13207898del" "" "likely benign" "" "0000566185" "0" "30" "19" "13318707" "13318712" "del" "0" "02326" "CACNA1A_000088" "g.13318707_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*173_*178del (p.(=)), CACNA1A(NM_023035.2):c.6988_6993delCAGCAG (p.Q2330_Q2331del), CACNA1A(NM_023035.3):c.6988_6993delCAGCA..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207893_13207898del" "" "likely benign" "" "0000566186" "0" "10" "19" "13318707" "13318712" "dup" "0" "02325" "CACNA1A_000298" "g.13318707_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*182_*187dup (p.(=)), CACNA1A(NM_023035.3):c.6988_6993dupCAGCAG (p.Q2330_Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207893_13207898dup" "" "benign" "" "0000566189" "0" "50" "19" "13319575" "13319575" "subst" "0" "01804" "CACNA1A_000300" "g.13319575G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6775C>T (p.(Arg2259Trp)), CACNA1A(NM_023035.2):c.6793C>T (p.R2265W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208761G>A" "" "VUS" "" "0000566190" "0" "30" "19" "13319596" "13319596" "subst" "0" "02327" "CACNA1A_000301" "g.13319596C>T" "" "" "" "CACNA1A(NM_023035.2):c.6772G>A (p.G2258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208782C>T" "" "likely benign" "" "0000566191" "0" "30" "19" "13319640" "13319640" "subst" "0" "01943" "CACNA1A_000302" "g.13319640C>T" "" "" "" "CACNA1A(NM_023035.2):c.6728G>A (p.R2243Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208826C>T" "" "likely benign" "" "0000566193" "0" "10" "19" "13319692" "13319693" "ins" "0" "01943" "CACNA1A_000303" "g.13319692_13319693insGTG" "" "" "" "CACNA1A(NM_000068.3):c.6676_6677insACC (p.(His2225dup)), CACNA1A(NM_023035.2):c.6676_6677insACC (p.H2225dup), CACNA1A(NM_023035.3):c.6676_6677insAC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208878_13208879insGTG" "" "benign" "" "0000566194" "0" "30" "19" "13319692" "13319693" "ins" "0" "02326" "CACNA1A_000303" "g.13319692_13319693insGTG" "" "" "" "CACNA1A(NM_000068.3):c.6676_6677insACC (p.(His2225dup)), CACNA1A(NM_023035.2):c.6676_6677insACC (p.H2225dup), CACNA1A(NM_023035.3):c.6676_6677insAC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208878_13208879insGTG" "" "likely benign" "" "0000566195" "0" "50" "19" "13319692" "13319693" "ins" "0" "01943" "CACNA1A_000304" "g.13319692_13319693insGTGGTG" "" "" "" "CACNA1A(NM_023035.2):c.6676_6677insACCACC (p.H2224_H2225dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208878_13208879insGTGGTG" "" "VUS" "" "0000566196" "0" "30" "19" "13319766" "13319766" "subst" "0.000271484" "01804" "CACNA1A_000305" "g.13319766C>T" "" "" "" "CACNA1A(NM_000068.3):c.6602G>A (p.(Arg2201Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208952C>T" "" "likely benign" "" "0000566197" "0" "30" "19" "13320188" "13320188" "subst" "2.09231E-5" "01943" "CACNA1A_000306" "g.13320188C>A" "" "" "" "CACNA1A(NM_023035.2):c.6482G>T (p.R2161L), CACNA1A(NM_023035.3):c.6482G>T (p.R2161L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13209374C>A" "" "likely benign" "" "0000566198" "0" "30" "19" "13322942" "13322942" "subst" "0" "01943" "CACNA1A_000307" "g.13322942A>G" "" "" "" "CACNA1A(NM_023035.2):c.6296T>C (p.M2099T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212128A>G" "" "likely benign" "" "0000566199" "0" "30" "19" "13322943" "13322943" "subst" "4.08137E-6" "01943" "CACNA1A_000308" "g.13322943T>C" "" "" "" "CACNA1A(NM_001127222.1):c.6277A>G (p.(Met2093Val)), CACNA1A(NM_023035.2):c.6295A>G (p.M2099V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212129T>C" "" "likely benign" "" "0000566200" "0" "30" "19" "13322943" "13322943" "subst" "4.08137E-6" "01804" "CACNA1A_000308" "g.13322943T>C" "" "" "" "CACNA1A(NM_001127222.1):c.6277A>G (p.(Met2093Val)), CACNA1A(NM_023035.2):c.6295A>G (p.M2099V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212129T>C" "" "likely benign" "" "0000566201" "0" "30" "19" "13322970" "13322970" "subst" "4.06928E-6" "01943" "CACNA1A_000309" "g.13322970T>C" "" "" "" "CACNA1A(NM_023035.2):c.6268A>G (p.M2090V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212156T>C" "" "likely benign" "" "0000566202" "0" "30" "19" "13323028" "13323028" "subst" "1.22156E-5" "01804" "CACNA1A_000310" "g.13323028G>A" "" "" "" "CACNA1A(NM_000068.3):c.6210C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212214G>A" "" "likely benign" "" "0000566203" "0" "70" "19" "13323281" "13323281" "subst" "0" "02327" "CACNA1A_000311" "g.13323281G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212467G>A" "" "likely pathogenic" "" "0000566204" "0" "30" "19" "13323296" "13323296" "subst" "0" "01804" "CACNA1A_000312" "g.13323296C>G" "" "" "" "CACNA1A(NM_000068.3):c.6109G>C (p.(Val2037Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212482C>G" "" "likely benign" "" "0000566205" "0" "50" "19" "13323320" "13323320" "subst" "0.000115219" "01943" "CACNA1A_000313" "g.13323320C>T" "" "" "" "CACNA1A(NM_023035.2):c.6085G>A (p.G2029S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212506C>T" "" "VUS" "" "0000566207" "0" "30" "19" "13323482" "13323482" "subst" "8.28057E-5" "02325" "CACNA1A_000099" "g.13323482C>T" "" "" "" "CACNA1A(NM_023035.3):c.6031G>A (p.A2011T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212668C>T" "" "likely benign" "" "0000566208" "0" "30" "19" "13323494" "13323494" "subst" "3.75314E-5" "01943" "CACNA1A_000314" "g.13323494G>A" "" "" "" "CACNA1A(NM_001127221.1):c.6004C>T (p.(Pro2002Ser)), CACNA1A(NM_023035.2):c.6019C>T (p.P2007S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212680G>A" "" "likely benign" "" "0000566209" "0" "50" "19" "13323515" "13323515" "subst" "0" "02329" "CACNA1A_000315" "g.13323515A>G" "" "" "" "CACNA1A(NM_023035.3):c.5998T>C (p.S2000P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212701A>G" "" "VUS" "" "0000566210" "0" "50" "19" "13323524" "13323524" "subst" "0" "01804" "CACNA1A_000316" "g.13323524C>T" "" "" "" "CACNA1A(NM_000068.3):c.5989G>A (p.(Glu1997Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212710C>T" "" "VUS" "" "0000566211" "0" "90" "19" "13335547" "13335549" "delins" "0" "02327" "CACNA1A_000317" "g.13335547_13335549delinsG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13224733_13224735delinsG" "" "pathogenic" "" "0000566212" "0" "10" "19" "13338183" "13338183" "subst" "0" "02326" "CACNA1A_000318" "g.13338183G>A" "" "" "" "CACNA1A(NM_023035.3):c.5643+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13227369G>A" "" "benign" "" "0000566213" "0" "50" "19" "13338343" "13338343" "subst" "0" "02327" "CACNA1A_000319" "g.13338343T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13227529T>C" "" "VUS" "" "0000566214" "0" "10" "19" "13341037" "13341037" "subst" "0.198263" "02325" "CACNA1A_000038" "g.13341037G>A" "" "" "" "CACNA1A(NM_023035.2):c.5419-14C>T, CACNA1A(NM_023035.3):c.5419-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13230223G>A" "" "benign" "" "0000566215" "0" "50" "19" "13342576" "13342576" "subst" "0" "01943" "CACNA1A_000320" "g.13342576T>A" "" "" "" "CACNA1A(NM_023035.2):c.5366A>T (p.N1789I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13231762T>A" "" "VUS" "" "0000566216" "0" "70" "19" "13342589" "13342589" "subst" "0" "02327" "CACNA1A_000321" "g.13342589G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13231775G>A" "" "likely pathogenic" "" "0000566217" "0" "90" "19" "13346507" "13346507" "subst" "0" "02325" "CACNA1A_000322" "g.13346507C>T" "" "" "" "CACNA1A(NM_023035.2):c.5006G>A (p.R1669Q), CACNA1A(NM_023035.3):c.5006G>A (p.R1669Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13235693C>T" "" "pathogenic" "" "0000566218" "0" "50" "19" "13346528" "13346528" "subst" "0" "01943" "CACNA1A_000323" "g.13346528A>C" "" "" "" "CACNA1A(NM_001127221.2):c.4970T>G (p.L1657R), CACNA1A(NM_023035.2):c.4985T>G (p.L1662R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13235714A>C" "" "VUS" "" "0000566219" "0" "30" "19" "13355924" "13355924" "subst" "0" "02326" "CACNA1A_000324" "g.13355924C>T" "" "" "" "CACNA1A(NM_023035.3):c.4962+72G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13245110C>T" "" "likely benign" "" "0000566220" "0" "30" "19" "13363843" "13363843" "subst" "0" "01943" "CACNA1A_000325" "g.13363843G>C" "" "" "" "CACNA1A(NM_023035.2):c.4840C>G (p.L1614V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13253029G>C" "" "likely benign" "" "0000566221" "0" "30" "19" "13366020" "13366020" "subst" "0.000240099" "01943" "CACNA1A_000326" "g.13366020C>T" "" "" "" "CACNA1A(NM_023035.2):c.4656G>A (p.P1552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13255206C>T" "" "likely benign" "" "0000566223" "0" "30" "19" "13366082" "13366082" "subst" "0.000335091" "01943" "CACNA1A_000328" "g.13366082G>C" "" "" "" "CACNA1A(NM_023035.2):c.4603-9C>G, CACNA1A(NM_023035.3):c.4603-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13255268G>C" "" "likely benign" "" "0000566224" "0" "30" "19" "13366082" "13366082" "subst" "0.000335091" "02326" "CACNA1A_000328" "g.13366082G>C" "" "" "" "CACNA1A(NM_023035.2):c.4603-9C>G, CACNA1A(NM_023035.3):c.4603-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13255268G>C" "" "likely benign" "" "0000566225" "0" "50" "19" "13370468" "13370468" "subst" "0" "02327" "CACNA1A_000329" "g.13370468C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13259654C>T" "" "VUS" "" "0000566226" "0" "30" "19" "13370472" "13370472" "subst" "0" "01804" "CACNA1A_000330" "g.13370472C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4297G>A (p.(Asp1433Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13259658C>T" "" "likely benign" "" "0000566227" "0" "70" "19" "13372340" "13372340" "subst" "0" "01943" "CACNA1A_000331" "g.13372340C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4177G>A (p.V1393M), CACNA1A(NM_023035.2):c.4186G>A (p.V1396M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13261526C>T" "" "likely pathogenic" "" "0000566228" "0" "70" "19" "13372340" "13372340" "subst" "0" "02326" "CACNA1A_000331" "g.13372340C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4177G>A (p.V1393M), CACNA1A(NM_023035.2):c.4186G>A (p.V1396M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13261526C>T" "" "likely pathogenic" "" "0000566229" "0" "70" "19" "13373565" "13373565" "subst" "0" "02325" "CACNA1A_000332" "g.13373565G>A" "" "" "" "CACNA1A(NM_023035.3):c.4084C>T (p.R1362W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13262751G>A" "" "likely pathogenic" "" "0000566231" "0" "10" "19" "13387904" "13387904" "subst" "0.195237" "02325" "CACNA1A_000029" "g.13387904A>G" "" "" "" "CACNA1A(NM_023035.2):c.3873T>C (p.F1291=), CACNA1A(NM_023035.3):c.3873T>C (p.F1291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13277090A>G" "" "benign" "" "0000566232" "0" "90" "19" "13395881" "13395881" "subst" "4.10304E-6" "01943" "CACNA1A_000333" "g.13395881C>T" "" "" "" "CACNA1A(NM_023035.2):c.3704+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13285067C>T" "" "pathogenic" "" "0000566233" "0" "30" "19" "13395949" "13395949" "subst" "0" "01804" "CACNA1A_000334" "g.13395949G>A" "" "" "" "CACNA1A(NM_000068.3):c.3637C>T (p.(Arg1213Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13285135G>A" "" "likely benign" "" "0000566234" "0" "50" "19" "13395967" "13395969" "del" "0" "01943" "CACNA1A_000335" "g.13395967_13395969del" "" "" "" "CACNA1A(NM_023035.2):c.3627_3629delGGA (p.E1210del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13285153_13285155del" "" "VUS" "" "0000566236" "0" "30" "19" "13397420" "13397420" "subst" "0" "01943" "CACNA1A_000337" "g.13397420G>A" "" "" "" "CACNA1A(NM_023035.2):c.3462C>T (p.S1154=), CACNA1A(NM_023035.3):c.3462C>T (p.S1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286606G>A" "" "likely benign" "" "0000566237" "0" "30" "19" "13397420" "13397420" "subst" "0" "02326" "CACNA1A_000337" "g.13397420G>A" "" "" "" "CACNA1A(NM_023035.2):c.3462C>T (p.S1154=), CACNA1A(NM_023035.3):c.3462C>T (p.S1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286606G>A" "" "likely benign" "" "0000566238" "0" "50" "19" "13397460" "13397460" "subst" "2.64542E-5" "01943" "CACNA1A_000338" "g.13397460G>T" "" "" "" "CACNA1A(NM_000068.3):c.3422C>A (p.(Pro1141His)), CACNA1A(NM_023035.2):c.3422C>A (p.P1141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286646G>T" "" "VUS" "" "0000566239" "0" "50" "19" "13397461" "13397461" "subst" "0.000432658" "01943" "CACNA1A_000207" "g.13397461G>C" "" "" "" "CACNA1A(NM_000068.3):c.3421C>G (p.(Pro1141Ala)), CACNA1A(NM_001127221.2):c.3412C>G (p.P1138A), CACNA1A(NM_023035.2):c.3421C>G (p.P1141A), CACNA1A...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286647G>C" "" "VUS" "" "0000566240" "0" "30" "19" "13397461" "13397461" "subst" "0.000432658" "02326" "CACNA1A_000207" "g.13397461G>C" "" "" "" "CACNA1A(NM_000068.3):c.3421C>G (p.(Pro1141Ala)), CACNA1A(NM_001127221.2):c.3412C>G (p.P1138A), CACNA1A(NM_023035.2):c.3421C>G (p.P1141A), CACNA1A...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286647G>C" "" "likely benign" "" "0000566241" "0" "30" "19" "13397486" "13397486" "subst" "0.000204304" "01943" "CACNA1A_000339" "g.13397486C>T" "" "" "" "CACNA1A(NM_023035.2):c.3396G>A (p.P1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286672C>T" "" "likely benign" "" "0000566243" "0" "10" "19" "13409390" "13409390" "subst" "0.132992" "02325" "CACNA1A_000024" "g.13409390C>T" "" "" "" "CACNA1A(NM_023035.2):c.3069G>A (p.R1023=), CACNA1A(NM_023035.3):c.3069G>A (p.R1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298576C>T" "" "benign" "" "0000566244" "0" "30" "19" "13409407" "13409407" "subst" "0.00348005" "01804" "CACNA1A_000023" "g.13409407C>T" "" "" "" "CACNA1A(NM_000068.3):c.3052G>A (p.(Glu1018Lys)), CACNA1A(NM_023035.2):c.3052G>A (p.E1018K), CACNA1A(NM_023035.3):c.3052G>A (p.E1018K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298593C>T" "" "likely benign" "" "0000566245" "0" "30" "19" "13409447" "13409447" "subst" "8.08918E-6" "01943" "CACNA1A_000341" "g.13409447C>T" "" "" "" "CACNA1A(NM_023035.2):c.3012G>A (p.E1004=), CACNA1A(NM_023035.3):c.3012G>A (p.E1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298633C>T" "" "likely benign" "" "0000566246" "0" "50" "19" "13409458" "13409458" "subst" "0" "01943" "CACNA1A_000342" "g.13409458C>T" "" "" "" "CACNA1A(NM_023035.2):c.3001G>A (p.D1001N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298644C>T" "" "VUS" "" "0000566247" "0" "10" "19" "13409472" "13409472" "subst" "0.137077" "02325" "CACNA1A_000022" "g.13409472T>A" "" "" "" "CACNA1A(NM_023035.2):c.2987A>T (p.E996V), CACNA1A(NM_023035.3):c.2987A>T (p.E996V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298658T>A" "" "benign" "" "0000566248" "0" "30" "19" "13409492" "13409492" "subst" "0.00025892" "01943" "CACNA1A_000343" "g.13409492C>G" "" "" "" "CACNA1A(NM_000068.3):c.2967G>C (p.(Pro989=)), CACNA1A(NM_023035.2):c.2967G>C (p.P989=), CACNA1A(NM_023035.3):c.2967G>C (p.P989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298678C>G" "" "likely benign" "" "0000566249" "0" "30" "19" "13409525" "13409525" "subst" "1.22793E-5" "01943" "CACNA1A_000344" "g.13409525C>G" "" "" "" "CACNA1A(NM_023035.2):c.2934G>C (p.E978D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298711C>G" "" "likely benign" "" "0000566250" "0" "30" "19" "13409603" "13409603" "subst" "0.000741719" "01943" "CACNA1A_000020" "g.13409603G>C" "" "" "" "CACNA1A(NM_000068.3):c.2856C>G (p.(Arg952=)), CACNA1A(NM_023035.2):c.2856C>G (p.R952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298789G>C" "" "likely benign" "" "0000566251" "0" "30" "19" "13409624" "13409624" "subst" "0.000195256" "01943" "CACNA1A_000345" "g.13409624C>T" "" "" "" "CACNA1A(NM_023035.2):c.2835G>A (p.E945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298810C>T" "" "likely benign" "" "0000566252" "0" "10" "19" "13409696" "13409696" "subst" "0.126413" "02325" "CACNA1A_000019" "g.13409696C>G" "" "" "" "CACNA1A(NM_023035.2):c.2763G>C (p.E921D), CACNA1A(NM_023035.3):c.2763G>C (p.E921D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298882C>G" "" "benign" "" "0000566253" "0" "30" "19" "13409771" "13409771" "subst" "6.87893E-5" "01943" "CACNA1A_000346" "g.13409771G>A" "" "" "" "CACNA1A(NM_023035.2):c.2688C>T (p.S896=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298957G>A" "" "likely benign" "" "0000566254" "0" "50" "19" "13410096" "13410096" "subst" "0" "01943" "CACNA1A_000347" "g.13410096T>C" "" "" "" "CACNA1A(NM_023035.2):c.2363A>G (p.Q788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13299282T>C" "" "VUS" "" "0000566255" "0" "70" "19" "13410103" "13410103" "subst" "0" "02327" "CACNA1A_000348" "g.13410103G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13299289G>A" "" "likely pathogenic" "" "0000566256" "0" "50" "19" "13411370" "13411370" "subst" "0" "01804" "CACNA1A_000349" "g.13411370A>G" "" "" "" "CACNA1A(NM_001127221.1):c.2276T>C (p.(Ile759Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13300556A>G" "" "VUS" "" "0000566257" "0" "30" "19" "13411451" "13411451" "subst" "0.0105871" "01804" "CACNA1A_000223" "g.13411451T>G" "" "" "" "CACNA1A(NM_000068.3):c.2204A>C (p.(Glu735Ala)), CACNA1A(NM_023035.2):c.2204A>C (p.E735A), CACNA1A(NM_023035.3):c.2204A>C (p.E735A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13300637T>G" "" "likely benign" "" "0000566258" "0" "30" "19" "13418672" "13418672" "subst" "0.0015445" "01804" "CACNA1A_000350" "g.13418672C>T" "" "" "" "CACNA1A(NM_000068.3):c.1917-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13307858C>T" "" "likely benign" "" "0000566259" "0" "50" "19" "13418977" "13418977" "subst" "0" "01943" "CACNA1A_000351" "g.13418977T>C" "" "" "" "CACNA1A(NM_023035.2):c.1873A>G (p.I625V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308163T>C" "" "VUS" "" "0000566260" "0" "30" "19" "13418978" "13418978" "subst" "4.87508E-5" "01943" "CACNA1A_000352" "g.13418978G>A" "" "" "" "CACNA1A(NM_023035.2):c.1872C>T (p.F624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308164G>A" "" "likely benign" "" "0000566261" "0" "90" "19" "13419066" "13419066" "subst" "0" "01943" "CACNA1A_000353" "g.13419066C>G" "" "" "" "CACNA1A(NM_023035.2):c.1785-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308252C>G" "" "pathogenic" "" "0000566262" "0" "90" "19" "13419266" "13419266" "subst" "4.06643E-6" "02325" "CACNA1A_000011" "g.13419266C>T" "" "" "" "CACNA1A(NM_023035.3):c.1748G>A (p.R583Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308452C>T" "" "pathogenic" "" "0000566263" "0" "50" "19" "13419273" "13419273" "subst" "0" "01943" "CACNA1A_000236" "g.13419273C>G" "" "" "" "CACNA1A(NM_023035.2):c.1741G>C (p.V581L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308459C>G" "" "VUS" "" "0000566264" "0" "30" "19" "13423476" "13423476" "subst" "0.000282575" "01804" "CACNA1A_000354" "g.13423476C>T" "" "" "" "CACNA1A(NM_000068.3):c.1671+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13312662C>T" "" "likely benign" "" "0000566265" "0" "10" "19" "13423525" "13423525" "subst" "0.00816004" "01943" "CACNA1A_000355" "g.13423525C>T" "" "" "" "CACNA1A(NM_000068.3):c.1629G>A (p.(Thr543=)), CACNA1A(NM_023035.2):c.1629G>A (p.T543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13312711C>T" "" "benign" "" "0000566266" "0" "50" "19" "13423568" "13423568" "subst" "0" "02325" "CACNA1A_000356" "g.13423568A>G" "" "" "" "CACNA1A(NM_023035.3):c.1586T>C (p.L529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13312754A>G" "" "VUS" "" "0000566268" "0" "30" "19" "13428086" "13428086" "subst" "7.72659E-5" "01943" "CACNA1A_000358" "g.13428086C>T" "" "" "" "CACNA1A(NM_023035.2):c.1398G>A (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13317272C>T" "" "likely benign" "" "0000566270" "0" "50" "19" "13445220" "13445220" "subst" "8.12321E-6" "02327" "CACNA1A_000360" "g.13445220A>T" "" "" "" "CACNA1A(NM_001127222.1):c.1170T>A (p.(Asn390Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13334406A>T" "" "VUS" "" "0000566271" "0" "50" "19" "13470494" "13470494" "subst" "0" "01943" "CACNA1A_000361" "g.13470494C>T" "" "" "" "CACNA1A(NM_023035.2):c.904G>A (p.D302N), CACNA1A(NM_023035.3):c.904G>A (p.D302N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13359680C>T" "" "VUS" "" "0000566272" "0" "10" "19" "13470522" "13470522" "subst" "0.0605509" "02325" "CACNA1A_000005" "g.13470522T>C" "" "" "" "CACNA1A(NM_023035.2):c.876A>G (p.E292=), CACNA1A(NM_023035.3):c.876A>G (p.E292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13359708T>C" "" "benign" "" "0000566273" "0" "10" "19" "13482554" "13482554" "subst" "0.0103272" "01943" "CACNA1A_000003" "g.13482554C>T" "" "" "" "CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13371740C>T" "" "benign" "" "0000566274" "0" "30" "19" "13482554" "13482554" "subst" "0.0103272" "02326" "CACNA1A_000003" "g.13482554C>T" "" "" "" "CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13371740C>T" "" "likely benign" "" "0000566275" "0" "30" "19" "13616886" "13616886" "subst" "0" "02326" "CACNA1A_000362" "g.13616886T>C" "" "" "" "CACNA1A(NM_023035.3):c.153A>G (p.S51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13506072T>C" "" "likely benign" "" "0000566276" "0" "30" "19" "13616912" "13616912" "subst" "4.11848E-6" "01804" "CACNA1A_000363" "g.13616912C>T" "" "" "" "CACNA1A(NM_000068.3):c.127G>A (p.(Gly43Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13506098C>T" "" "likely benign" "" "0000566277" "0" "50" "19" "13616999" "13616999" "subst" "0" "02327" "CACNA1A_000364" "g.13616999C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13506185C>T" "" "VUS" "" "0000578324" "0" "50" "19" "13410043" "13410043" "subst" "4.51894E-5" "01164" "CACNA1A_000365" "g.13410043G>T" "" "" "" "" "reported in Balck 2017. J Neurol 7: 1520" "Germline" "" "rs760816963" "0" "" "" "g.13299229G>T" "" "VUS" "ACMG" "0000604190" "0" "70" "19" "13346076" "13346076" "subst" "0" "01164" "CACNA1A_000050" "g.13346076C>A" "" "" "" "" "ACMG: PM1,PM2,PM5,PP3; de Vries et al. 2008. Cephalalgia 28: 887" "Germline" "" "" "0" "" "" "g.13235262C>A" "" "likely pathogenic" "ACMG" "0000604481" "0" "50" "19" "13320155" "13320155" "subst" "0" "03512" "CACNA1A_000366" "g.13320155G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.13209341G>A" "" "VUS" "" "0000617373" "0" "50" "19" "13318224" "13318224" "subst" "0" "02325" "CACNA1A_000367" "g.13318224C>A" "" "" "" "CACNA1A(NM_023035.3):c.7442G>T (p.G2481V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207410C>A" "" "VUS" "" "0000617374" "0" "30" "19" "13318710" "13318712" "dup" "0" "01804" "CACNA1A_000091" "g.13318710_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*185_*187dup (p.(=)), CACNA1A(NM_023035.2):c.6991_6993dupCAG (p.Q2331dup), CACNA1A(NM_023035.3):c.6991_6993dupCAG (p.Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207896_13207898dup" "" "likely benign" "" "0000617375" "0" "30" "19" "13320119" "13320119" "subst" "1.89566E-5" "01943" "CACNA1A_000368" "g.13320119T>C" "" "" "" "CACNA1A(NM_023035.2):c.6544+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13209305T>C" "" "likely benign" "" "0000617376" "0" "50" "19" "13323262" "13323262" "subst" "3.78724E-5" "02329" "CACNA1A_000369" "g.13323262G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6125C>T (p.T2042M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13212448G>A" "" "VUS" "" "0000617377" "0" "30" "19" "13335561" "13335561" "subst" "0" "01804" "CACNA1A_000160" "g.13335561A>T" "" "" "" "CACNA1A(NM_000068.3):c.5669T>A (p.(Val1890Asp)), CACNA1A(NM_001127222.1):c.5651T>A (p.V1884D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13224747A>T" "" "likely benign" "" "0000617378" "0" "30" "19" "13366056" "13366056" "subst" "2.07261E-5" "02327" "CACNA1A_000370" "g.13366056G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13255242G>A" "" "likely benign" "" "0000617379" "0" "30" "19" "13370476" "13370476" "subst" "4.56947E-5" "02326" "CACNA1A_000371" "g.13370476C>T" "" "" "" "CACNA1A(NM_023035.3):c.4302G>A (p.A1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13259662C>T" "" "likely benign" "" "0000617380" "0" "90" "19" "13373585" "13373585" "subst" "0" "02327" "CACNA1A_000372" "g.13373585C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13262771C>T" "" "pathogenic" "" "0000617381" "0" "90" "19" "13373594" "13373594" "subst" "0" "02329" "CACNA1A_000064" "g.13373594C>T" "" "" "" "CACNA1A(NM_023035.3):c.4055G>A (p.R1352Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13262780C>T" "" "pathogenic" "" "0000617382" "0" "30" "19" "13395956" "13395956" "subst" "0.000127181" "02327" "CACNA1A_000204" "g.13395956T>C" "" "" "" "CACNA1A(NM_023035.3):c.3630A>G (p.E1210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13285142T>C" "" "likely benign" "" "0000617383" "0" "30" "19" "13397605" "13397605" "subst" "0.000361743" "02326" "CACNA1A_000210" "g.13397605C>A" "" "" "" "CACNA1A(NM_023035.2):c.3277G>T (p.G1093C), CACNA1A(NM_023035.3):c.3277G>T (p.G1093C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286791C>A" "" "likely benign" "" "0000617384" "0" "10" "19" "13411451" "13411451" "subst" "0.0105871" "02327" "CACNA1A_000223" "g.13411451T>G" "" "" "" "CACNA1A(NM_000068.3):c.2204A>C (p.(Glu735Ala)), CACNA1A(NM_023035.2):c.2204A>C (p.E735A), CACNA1A(NM_023035.3):c.2204A>C (p.E735A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13300637T>G" "" "benign" "" "0000617385" "0" "50" "19" "13419228" "13419231" "del" "0" "02326" "CACNA1A_000373" "g.13419228_13419231del" "" "" "" "CACNA1A(NM_023035.3):c.1784+3_1784+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13308414_13308417del" "" "VUS" "" "0000617386" "0" "70" "19" "13428084" "13428084" "dup" "0" "02327" "CACNA1A_000375" "g.13428084dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13317270dup" "" "likely pathogenic" "" "0000617387" "0" "90" "19" "13470494" "13470494" "subst" "0" "02325" "CACNA1A_000361" "g.13470494C>T" "" "" "" "CACNA1A(NM_023035.2):c.904G>A (p.D302N), CACNA1A(NM_023035.3):c.904G>A (p.D302N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13359680C>T" "" "pathogenic" "" "0000623942" "0" "50" "19" "13319596" "13319596" "subst" "0" "01943" "CACNA1A_000301" "g.13319596C>T" "" "" "" "CACNA1A(NM_023035.2):c.6772G>A (p.G2258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13208782C>T" "" "VUS" "" "0000623943" "0" "30" "19" "13423579" "13423579" "subst" "0.000536142" "01943" "CACNA1A_000374" "g.13423579A>T" "" "" "" "CACNA1A(NM_023035.2):c.1575T>A (p.I525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13312765A>T" "" "likely benign" "" "0000626494" "0" "50" "19" "13397340" "13397340" "subst" "7.4921E-5" "01164" "CACNA1A_000376" "g.13397340G>C" "" "" "" "" "ACMG: PM2,PP3; Patient with late-onset symptoms (over age 50y)" "Germline" "" "rs201789073" "0" "" "" "g.13286526G>C" "" "VUS" "ACMG" "0000629292" "21" "90" "19" "13414691" "13414691" "subst" "4.08714E-6" "00006" "CACNA1A_000014" "g.13414691G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.13303877G>A" "" "pathogenic (dominant)" "" "0000647268" "0" "70" "19" "13346507" "13346507" "subst" "0" "01164" "CACNA1A_000322" "g.13346507C>T" "" "" "" "" "ACMG: PS2,PM2,PP3,PP5; Tonelli et al. 2006. J Neurol Sci 241: 13-7" "Germline" "" "rs121908247" "0" "" "" "g.13235693C>T" "" "likely pathogenic" "ACMG" "0000647280" "0" "70" "19" "13476134" "13476134" "del" "0" "01807" "CACNA1A_000378" "g.13476134del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.13365320del" "" "likely pathogenic" "" "0000649904" "1" "50" "19" "13397704" "13397704" "subst" "0.000276186" "03575" "CACNA1A_000377" "g.13397704G>A" "31/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 31 heterozygous, no homozygous; {DB:CLININrs187393245}" "Germline" "" "rs187393245" "0" "" "" "g.13286890G>A" "" "VUS" "" "0000649905" "1" "10" "19" "13411451" "13411451" "subst" "0.0105871" "03575" "CACNA1A_000223" "g.13411451T>G" "27/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs16019}" "Germline" "" "rs16019" "0" "" "" "g.13300637T>G" "" "benign" "" "0000658494" "0" "50" "19" "13318386" "13318386" "subst" "0.00166945" "01943" "CACNA1A_000290" "g.13318386G>A" "" "" "" "CACNA1A(NM_023035.2):c.7280C>T (p.P2427L), CACNA1A(NM_023035.3):c.7280C>T (p.P2427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207572G>A" "" "VUS" "" "0000658495" "0" "50" "19" "13318387" "13318387" "subst" "0.00161077" "01943" "CACNA1A_000291" "g.13318387G>C" "" "" "" "CACNA1A(NM_023035.2):c.7279C>G (p.P2427A), CACNA1A(NM_023035.3):c.7279C>G (p.P2427A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13207573G>C" "" "VUS" "" "0000658496" "0" "50" "19" "13320180" "13320180" "subst" "0" "01943" "CACNA1A_000379" "g.13320180G>T" "" "" "" "CACNA1A(NM_023035.2):c.6490C>A (p.R2164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13209366G>T" "" "VUS" "" "0000658497" "0" "30" "19" "13320273" "13320273" "subst" "4.45527E-5" "01943" "CACNA1A_000380" "g.13320273C>T" "" "" "" "CACNA1A(NM_023035.2):c.6397G>A (p.V2133M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13209459C>T" "" "likely benign" "" "0000658498" "0" "30" "19" "13397345" "13397345" "subst" "0" "01943" "CACNA1A_000381" "g.13397345T>C" "" "" "" "CACNA1A(NM_023035.2):c.3537A>G (p.P1179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286531T>C" "" "likely benign" "" "0000658499" "0" "50" "19" "13397506" "13397506" "subst" "9.20929E-6" "01943" "CACNA1A_000382" "g.13397506G>A" "" "" "" "CACNA1A(NM_023035.2):c.3376C>T (p.R1126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13286692G>A" "" "VUS" "" "0000658500" "0" "30" "19" "13409447" "13409447" "subst" "8.08918E-6" "02326" "CACNA1A_000341" "g.13409447C>T" "" "" "" "CACNA1A(NM_023035.2):c.3012G>A (p.E1004=), CACNA1A(NM_023035.3):c.3012G>A (p.E1004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298633C>T" "" "likely benign" "" "0000658501" "0" "30" "19" "13409760" "13409760" "subst" "0.00109475" "02325" "CACNA1A_000058" "g.13409760G>C" "" "" "" "CACNA1A(NM_000068.3):c.2699C>G (p.(Pro900Arg)), CACNA1A(NM_023035.2):c.2699C>G (p.P900R), CACNA1A(NM_023035.3):c.2699C>G (p.P900R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13298946G>C" "" "likely benign" "" "0000658502" "0" "50" "19" "13428087" "13428087" "subst" "2.03326E-5" "02327" "CACNA1A_000383" "g.13428087G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13317273G>A" "" "VUS" "" "0000658503" "0" "50" "19" "13470566" "13470566" "subst" "0" "01943" "CACNA1A_000384" "g.13470566C>T" "" "" "" "CACNA1A(NM_023035.2):c.832G>A (p.A278T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13359752C>T" "" "VUS" "" "0000659708" "0" "70" "19" "13410056" "13410056" "del" "0" "01164" "CACNA1A_000385" "g.13410056del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13299242del" "" "likely pathogenic" "ACMG" "0000660687" "0" "50" "19" "13319694" "13319694" "dup" "0" "01164" "CACNA1A_000100" "g.13319694dup" "" "" "" "" "ACMG grading: PM2\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000665617" "0" "50" "19" "13320155" "13320155" "subst" "0" "03512" "CACNA1A_000366" "g.13320155G>A" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wt" "Germline" "" "" "0" "" "" "g.13209341G>A" "" "VUS" "" "0000667407" "0" "70" "19" "13470494" "13470494" "subst" "0" "01164" "CACNA1A_000361" "g.13470494C>T" "" "Bürk et al. 2014. Eur J Med Genet 57: 207; Pradotto et al. 2016. J Neurol Sci 371: 81" "" "" "ACMG grading: PM1,PM2,PP1,PP3" "Germline" "" "rs863224852" "0" "" "" "g.13359680C>T" "" "likely pathogenic" "ACMG" "0000667494" "0" "90" "19" "13418935" "13418935" "subst" "0" "00006" "CACNA1A_000387" "g.13418935G>A" "" "{PMID:Helbig 2016:26795593}" "" "" "possible de novo" "Germline/De novo (untested)" "" "" "0" "" "" "g.13308121G>A" "" "pathogenic (dominant)" "ACMG" "0000667496" "0" "70" "19" "13342664" "13342664" "subst" "0" "00006" "CACNA1A_000386" "g.13342664C>T" "" "{PMID:Helbig 2016:26795593}" "" "" "" "De novo" "" "" "0" "" "" "g.13231850C>T" "" "likely pathogenic (dominant)" "ACMG" "0000667633" "11" "90" "19" "13470563" "13470563" "subst" "0" "00006" "CACNA1A_000263" "g.13470563G>A" "" "{PMID:Waters 2019:31654490}" "" "" "" "Germline" "yes" "" "0" "" "" "g.13359749G>A" "" "pathogenic" "" "0000675096" "0" "50" "19" "13319670" "13319670" "subst" "2.28519E-5" "00006" "CACNA1A_000388" "g.13319670C>A" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675114" "3" "90" "19" "13409683" "13409683" "subst" "0" "03750" "CACNA1A_000389" "g.13409683G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.13298869G>A" "" "pathogenic (recessive)" "ACMG" "0000681294" "0" "30" "19" "13318596" "13318596" "subst" "0.000102117" "01804" "CACNA1A_000390" "g.13318596C>T" "" "" "" "CACNA1A(NM_000068.3):c.*264G>A (p.(=)), CACNA1A(NM_023035.3):c.7070G>A (p.G2357E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681295" "0" "30" "19" "13325433" "13325433" "subst" "4.15248E-6" "02326" "CACNA1A_000391" "g.13325433G>A" "" "" "" "CACNA1A(NM_023035.3):c.5750-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681296" "0" "30" "19" "13335563" "13335563" "subst" "9.32994E-5" "02326" "CACNA1A_000392" "g.13335563G>C" "" "" "" "CACNA1A(NM_023035.3):c.5667C>G (p.P1889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681297" "0" "50" "19" "13346055" "13346055" "subst" "0" "01943" "CACNA1A_000393" "g.13346055G>A" "" "" "" "CACNA1A(NM_023035.2):c.5119C>T (p.L1707F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681298" "0" "30" "19" "13372293" "13372293" "subst" "0.000416569" "02326" "CACNA1A_000394" "g.13372293G>A" "" "" "" "CACNA1A(NM_023035.3):c.4233C>T (p.D1411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681299" "0" "30" "19" "13397345" "13397345" "subst" "0" "01943" "CACNA1A_000395" "g.13397345T>G" "" "" "" "CACNA1A(NM_023035.2):c.3537A>C (p.P1179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681300" "0" "30" "19" "13397582" "13397582" "subst" "0" "01943" "CACNA1A_000396" "g.13397582C>T" "" "" "" "CACNA1A(NM_023035.2):c.3300G>A (p.K1100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681301" "0" "30" "19" "13409492" "13409492" "subst" "0.00025892" "02326" "CACNA1A_000343" "g.13409492C>G" "" "" "" "CACNA1A(NM_000068.3):c.2967G>C (p.(Pro989=)), CACNA1A(NM_023035.2):c.2967G>C (p.P989=), CACNA1A(NM_023035.3):c.2967G>C (p.P989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681302" "0" "30" "19" "13409960" "13409960" "subst" "4.07604E-6" "01943" "CACNA1A_000397" "g.13409960C>T" "" "" "" "CACNA1A(NM_023035.2):c.2499G>A (p.E833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681303" "0" "70" "19" "13445191" "13445191" "subst" "0" "01943" "CACNA1A_000398" "g.13445191C>T" "" "" "" "CACNA1A(NM_023035.2):c.1198+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000687738" "0" "70" "19" "13368263" "13368263" "del" "0" "01164" "CACNA1A_000402" "g.13368263del" "" "" "" "" "ACMG grading: PVS1,PM2\r\n2y old female with episodic ataxia" "Germline" "" "" "0" "" "" "g.13257449del" "" "likely pathogenic" "ACMG" "0000692697" "0" "50" "19" "13318575" "13318575" "subst" "0" "01943" "CACNA1A_000399" "g.13318575C>T" "" "" "" "CACNA1A(NM_023035.2):c.7091G>A (p.G2364D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692698" "0" "30" "19" "13318701" "13318712" "dup" "0" "01943" "CACNA1A_000400" "g.13318701_13318712dup" "" "" "" "CACNA1A(NM_023035.2):c.6970_6981dupCAGCAGCAGCAG (p.Q2328_Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692699" "0" "30" "19" "13318881" "13318881" "subst" "0" "02327" "CACNA1A_000401" "g.13318881G>T" "" "" "" "CACNA1A(NM_001127221.1):c.6784-19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692700" "0" "30" "19" "13323482" "13323482" "subst" "8.28057E-5" "02326" "CACNA1A_000099" "g.13323482C>T" "" "" "" "CACNA1A(NM_023035.3):c.6031G>A (p.A2011T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692701" "0" "50" "19" "13370520" "13370520" "subst" "0" "02325" "CACNA1A_000403" "g.13370520C>T" "" "" "" "CACNA1A(NM_001127222.2):c.4251-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692702" "0" "70" "19" "13419249" "13419249" "subst" "0" "01943" "CACNA1A_000404" "g.13419249G>A" "" "" "" "CACNA1A(NM_023035.2):c.1765C>T (p.R589C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692703" "0" "30" "19" "13428113" "13428113" "subst" "0.00021581" "01943" "CACNA1A_000242" "g.13428113G>A" "" "" "" "CACNA1A(NM_000068.3):c.1371C>T (p.(Ser457=)), CACNA1A(NM_023035.2):c.1371C>T (p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692704" "0" "30" "19" "13476121" "13476121" "subst" "0.000151544" "01943" "CACNA1A_000405" "g.13476121G>A" "" "" "" "CACNA1A(NM_023035.2):c.784+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692705" "0" "90" "19" "13482541" "13482541" "subst" "0" "01804" "CACNA1A_000406" "g.13482541G>A" "" "" "" "CACNA1A(NM_001127221.1):c.592C>T (p.(Arg198*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698822" "0" "50" "19" "13411385" "13411385" "subst" "2.84276E-5" "01164" "CACNA1A_000407" "g.13411385G>A" "" "" "" "" "ACMG grading: PM2,PP2,PP3" "Germline" "" "rs200355966" "0" "" "" "" "" "VUS" "ACMG" "0000708282" "0" "50" "19" "13616779" "13616779" "subst" "0" "01164" "CACNA1A_000408" "g.13616779A>T" "" "" "" "" "ACMG: PM2. class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000711667" "0" "70" "19" "13470499" "13470499" "subst" "0" "01164" "CACNA1A_000409" "g.13470499T>G" "" "" "" "" "ACMG: PM2, PP2, PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000714753" "0" "50" "19" "13319599" "13319599" "subst" "1.73446E-5" "01164" "CACNA1A_000410" "g.13319599C>T" "" "" "" "" "ACMG: PM2; PP3: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000727152" "0" "30" "19" "13318596" "13318596" "subst" "0.000102117" "02326" "CACNA1A_000390" "g.13318596C>T" "" "" "" "CACNA1A(NM_000068.3):c.*264G>A (p.(=)), CACNA1A(NM_023035.3):c.7070G>A (p.G2357E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727153" "0" "30" "19" "13320244" "13320244" "subst" "0" "02326" "CACNA1A_000411" "g.13320244G>A" "" "" "" "CACNA1A(NM_023035.3):c.6426C>T (p.D2142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727154" "0" "30" "19" "13320252" "13320252" "subst" "0" "02325" "CACNA1A_000412" "g.13320252G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6400C>T (p.R2134C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727155" "0" "30" "19" "13338228" "13338228" "subst" "0.000395701" "02326" "CACNA1A_000413" "g.13338228C>T" "" "" "" "CACNA1A(NM_023035.3):c.5643+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727156" "0" "70" "19" "13342531" "13342531" "subst" "0" "02329" "CACNA1A_000414" "g.13342531G>A" "" "" "" "CACNA1A(NM_023035.3):c.5411C>T (p.S1804L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727157" "0" "50" "19" "13356019" "13356019" "subst" "0" "02327" "CACNA1A_000415" "g.13356019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727158" "0" "30" "19" "13366032" "13366032" "subst" "0.00184291" "01943" "CACNA1A_000095" "g.13366032G>A" "" "" "" "CACNA1A(NM_023035.2):c.4644C>T (p.T1548=), CACNA1A(NM_023035.3):c.4644C>T (p.T1548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727159" "0" "70" "19" "13372340" "13372340" "subst" "0" "01943" "CACNA1A_000416" "g.13372340C>A" "" "" "" "CACNA1A(NM_023035.2):c.4186G>T (p.V1396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727161" "0" "50" "19" "13394080" "13394080" "subst" "0" "02329" "CACNA1A_000202" "g.13394080C>T" "" "" "" "CACNA1A(NM_023035.3):c.3834+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727162" "0" "50" "19" "13397344" "13397344" "subst" "0" "02329" "CACNA1A_000336" "g.13397344G>A" "" "" "" "CACNA1A(NM_023035.3):c.3538C>T (p.P1180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727163" "0" "50" "19" "13411386" "13411386" "subst" "2.03054E-5" "01943" "CACNA1A_000418" "g.13411386C>T" "" "" "" "CACNA1A(NM_023035.2):c.2269G>A (p.A757T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727164" "0" "50" "19" "13423523" "13423523" "subst" "2.18507E-5" "02325" "CACNA1A_000419" "g.13423523C>T" "" "" "" "CACNA1A(NM_001127222.2):c.1628G>A (p.R543Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727165" "0" "30" "19" "13445311" "13445311" "subst" "0.000138161" "02325" "CACNA1A_000420" "g.13445311G>C" "" "" "" "CACNA1A(NM_001127222.2):c.1083-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732017" "0" "70" "19" "13414277" "13428165" "del" "0" "01164" "CACNA1A_000422" "g.(?_13414277)_(13428165_?)del" "" "" "" "" "heterozygous deletion exon 11-17 CACNA1A gene (c.1349-30_2175+83del)" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000735242" "1" "70" "19" "13356052" "13356052" "subst" "0" "03286" "CACNA1A_000423" "g.13356052A>T" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM1, PM2, PP3, PP5; The patient\'s electroclinical phenotype shares features with what has previously been reported for this gene, notably progressive ataxia. The positive autosomal dominant family history is consistent with this ultra-rare, heterozygous predicted damaging missense variant being causative. It is therefore with moderate confidence that we expand the CACNA1A clinical spectrum to PME." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000760937" "0" "50" "19" "13356067" "13356067" "subst" "4.06309E-6" "01164" "CACNA1A_000424" "g.13356067C>T" "" "" "" "" "ACMG: PM2_SUP, PP3; class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000787215" "0" "50" "19" "13342529" "13342529" "subst" "0" "00006" "CACNA1A_000425" "g.13342529A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.13231715A>T" "" "VUS" "" "0000787449" "0" "50" "19" "13414398" "13414398" "subst" "0" "00000" "CACNA1A_000426" "g.13414398C>G" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.13303584C>G" "" "VUS" "" "0000788072" "0" "70" "19" "13409787" "13409787" "subst" "0" "01164" "CACNA1A_000427" "g.13409787T>A" "" "PMID: 29720203" "" "" "ACMG: PS2, PM2_SUP, PP2, PP3" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000789901" "0" "70" "19" "13441124" "13441124" "del" "0" "01164" "CACNA1A_000428" "g.13441124del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "g.13330310del" "" "likely pathogenic (dominant)" "ACMG" "0000795636" "0" "70" "19" "13446705" "13446705" "subst" "0" "00000" "CACNA1A_000429" "g.13446705T>C" "" "{PMID:Nair 2018:30293248}" "" "different transcript: NM_023035.2:c.997A>G; p.Asn333Asp" "" "Unknown" "?" "" "0" "" "" "g.13335891T>C" "" "likely pathogenic" "" "0000808689" "0" "30" "19" "13318704" "13318712" "dup" "0" "02325" "CACNA1A_000430" "g.13318704_13318712dup" "" "" "" "CACNA1A(NM_001127222.2):c.6967_6975dupCAGCAGCAG (p.Q2323_Q2325dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808690" "0" "30" "19" "13318707" "13318712" "dup" "0" "02326" "CACNA1A_000298" "g.13318707_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*182_*187dup (p.(=)), CACNA1A(NM_023035.3):c.6988_6993dupCAGCAG (p.Q2330_Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808691" "0" "30" "19" "13318807" "13318807" "subst" "0" "01804" "CACNA1A_000431" "g.13318807G>A" "" "" "" "CACNA1A(NM_000068.3):c.*53C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808692" "0" "50" "19" "13319574" "13319574" "subst" "0" "01943" "CACNA1A_000432" "g.13319574C>T" "" "" "" "CACNA1A(NM_023035.2):c.6794G>A (p.R2265Q), CACNA1A(NM_023035.3):c.6794G>A (p.R2265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808693" "0" "30" "19" "13321421" "13321421" "subst" "6.05899E-5" "01943" "CACNA1A_000433" "g.13321421C>G" "" "" "" "CACNA1A(NM_023035.2):c.6357+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808694" "0" "30" "19" "13325050" "13325050" "subst" "1.24714E-5" "01943" "CACNA1A_000434" "g.13325050C>T" "" "" "" "CACNA1A(NM_023035.2):c.5955G>A (p.E1985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808695" "0" "50" "19" "13325144" "13325144" "subst" "1.6348E-5" "02325" "CACNA1A_000435" "g.13325144G>A" "" "" "" "CACNA1A(NM_001127222.2):c.5843C>T (p.T1948M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808696" "0" "70" "19" "13346507" "13346507" "subst" "0" "01943" "CACNA1A_000322" "g.13346507C>T" "" "" "" "CACNA1A(NM_023035.2):c.5006G>A (p.R1669Q), CACNA1A(NM_023035.3):c.5006G>A (p.R1669Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808697" "0" "50" "19" "13365977" "13365977" "subst" "0" "02329" "CACNA1A_000436" "g.13365977C>A" "" "" "" "CACNA1A(NM_023035.3):c.4699G>T (p.V1567L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808698" "0" "30" "19" "13370455" "13370455" "subst" "0.0002369" "01943" "CACNA1A_000188" "g.13370455C>T" "" "" "" "CACNA1A(NM_023035.2):c.4323G>A (p.K1441=), CACNA1A(NM_023035.3):c.4323G>A (p.K1441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808699" "0" "90" "19" "13387930" "13387930" "dup" "0" "02327" "CACNA1A_000437" "g.13387930dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808700" "0" "30" "19" "13397323" "13397323" "subst" "6.56748E-5" "01943" "CACNA1A_000028" "g.13397323C>T" "" "" "" "CACNA1A(NM_001127222.2):c.3547G>A (p.(Val1183Ile)), CACNA1A(NM_023035.2):c.3559G>A (p.V1187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808701" "0" "30" "19" "13397627" "13397627" "subst" "1.23595E-5" "01943" "CACNA1A_000438" "g.13397627G>C" "" "" "" "CACNA1A(NM_023035.2):c.3255C>G (p.P1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808702" "0" "30" "19" "13414639" "13414639" "subst" "4.87527E-5" "02326" "CACNA1A_000439" "g.13414639G>A" "" "" "" "CACNA1A(NM_023035.3):c.2049C>T (p.G683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808703" "0" "70" "19" "13414644" "13414644" "subst" "0" "02327" "CACNA1A_000440" "g.13414644C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808704" "0" "30" "19" "13419335" "13419335" "subst" "8.21672E-6" "01943" "CACNA1A_000441" "g.13419335A>G" "" "" "" "CACNA1A(NM_023035.2):c.1679T>C (p.I560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808705" "0" "50" "19" "13427947" "13427947" "subst" "2.0405E-5" "02327" "CACNA1A_000442" "g.13427947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808706" "0" "30" "19" "13428113" "13428113" "subst" "0.00021581" "01804" "CACNA1A_000242" "g.13428113G>A" "" "" "" "CACNA1A(NM_000068.3):c.1371C>T (p.(Ser457=)), CACNA1A(NM_023035.2):c.1371C>T (p.S457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808707" "0" "30" "19" "13428125" "13428125" "subst" "1.22432E-5" "01943" "CACNA1A_000443" "g.13428125G>A" "" "" "" "CACNA1A(NM_000068.3):c.1359C>T (p.(=)), CACNA1A(NM_023035.2):c.1359C>T (p.F453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831074" "0" "70" "19" "13370496" "13370496" "subst" "0" "01164" "CACNA1A_000444" "g.13370496C>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000839931" "0" "50" "19" "13446696" "13446696" "subst" "0" "01741" "CACNA1A_000445" "g.13446696T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000855453" "0" "50" "19" "13322954" "13322954" "subst" "1.2233E-5" "02325" "CACNA1A_000150" "g.13322954C>T" "" "" "" "CACNA1A(NM_001127221.1):c.6269G>A (p.(Arg2090Gln)), CACNA1A(NM_001127221.2):c.6269G>A (p.R2090Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855454" "0" "50" "19" "13323027" "13323027" "subst" "4.07097E-6" "02325" "CACNA1A_000451" "g.13323027C>G" "" "" "" "CACNA1A(NM_001127222.2):c.6193G>C (p.V2065L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855455" "0" "30" "19" "13323509" "13323509" "subst" "4.95356E-5" "01943" "CACNA1A_000452" "g.13323509T>C" "" "" "" "CACNA1A(NM_023035.2):c.6004A>G (p.T2002A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855456" "0" "90" "19" "13340972" "13340972" "subst" "0" "02327" "CACNA1A_000454" "g.13340972G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855457" "0" "70" "19" "13346450" "13346450" "subst" "0" "02329" "CACNA1A_000455" "g.13346450C>T" "" "" "" "CACNA1A(NM_023035.3):c.5063G>A (p.W1688*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855458" "0" "90" "19" "13346516" "13346516" "subst" "0" "02329" "CACNA1A_000175" "g.13346516C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4982G>A (p.R1661H), CACNA1A(NM_023035.3):c.4997G>A (p.R1666H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855459" "0" "50" "19" "13365926" "13365926" "subst" "8.12275E-6" "02325" "CACNA1A_000456" "g.13365926T>C" "" "" "" "CACNA1A(NM_001127222.2):c.4738A>G (p.I1580V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855460" "0" "30" "19" "13397561" "13397561" "subst" "0.000485019" "01943" "CACNA1A_000460" "g.13397561G>A" "" "" "" "CACNA1A(NM_023035.2):c.3321C>T (p.P1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865875" "0" "30" "19" "13318217" "13318217" "subst" "0.0125341" "01804" "CACNA1A_000119" "g.13318217G>A" "" "" "" "CACNA1A(NM_000068.3):c.*643C>T (p.(=)), CACNA1A(NM_023035.3):c.7449C>T (p.Y2483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865876" "0" "30" "19" "13318283" "13318283" "subst" "0.00489601" "01804" "CACNA1A_000446" "g.13318283G>T" "" "" "" "CACNA1A(NM_000068.3):c.*577C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865877" "0" "30" "19" "13318672" "13318674" "dup" "0" "01804" "CACNA1A_000447" "g.13318672_13318674dup" "" "" "" "CACNA1A(NM_000068.3):c.*186_*188dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865878" "0" "30" "19" "13318701" "13318712" "del" "0" "01804" "CACNA1A_000448" "g.13318701_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*176_*187del (p.(=)), CACNA1A(NM_023035.3):c.6982_6993delCAGCAGCAGCAG (p.Q2328_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865879" "0" "30" "19" "13318707" "13318712" "dup" "0" "01804" "CACNA1A_000298" "g.13318707_13318712dup" "" "" "" "CACNA1A(NM_000068.3):c.*182_*187dup (p.(=)), CACNA1A(NM_023035.3):c.6988_6993dupCAGCAG (p.Q2330_Q2331dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865880" "0" "30" "19" "13318726" "13318726" "subst" "8.25878E-5" "01804" "CACNA1A_000449" "g.13318726C>T" "" "" "" "CACNA1A(NM_000068.3):c.*134G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865881" "0" "10" "19" "13318811" "13318811" "subst" "0.049794" "01804" "CACNA1A_000048" "g.13318811C>T" "" "" "" "CACNA1A(NM_000068.3):c.*49G>A (p.(=)), CACNA1A(NM_023035.3):c.6855G>A (p.P2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865882" "0" "50" "19" "13319575" "13319575" "subst" "0" "01943" "CACNA1A_000300" "g.13319575G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6775C>T (p.(Arg2259Trp)), CACNA1A(NM_023035.2):c.6793C>T (p.R2265W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865883" "0" "30" "19" "13319692" "13319693" "ins" "0" "01804" "CACNA1A_000303" "g.13319692_13319693insGTG" "" "" "" "CACNA1A(NM_000068.3):c.6676_6677insACC (p.(His2225dup)), CACNA1A(NM_023035.2):c.6676_6677insACC (p.H2225dup), CACNA1A(NM_023035.3):c.6676_6677insAC..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865884" "0" "50" "19" "13319706" "13319706" "subst" "0" "01943" "CACNA1A_000450" "g.13319706T>G" "" "" "" "CACNA1A(NM_023035.2):c.6662A>C (p.H2221P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865885" "0" "10" "19" "13320310" "13320310" "subst" "0.00456402" "01804" "CACNA1A_000147" "g.13320310G>C" "" "" "" "CACNA1A(NM_000068.3):c.6360C>G (p.(Thr2120=)), CACNA1A(NM_023035.3):c.6360C>G (p.T2120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865886" "0" "50" "19" "13325042" "13325042" "subst" "0" "02326" "CACNA1A_000453" "g.13325042C>T" "" "" "" "CACNA1A(NM_023035.3):c.5958+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865887" "0" "50" "19" "13366030" "13366030" "subst" "0" "02327" "CACNA1A_000457" "g.13366030C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865888" "0" "50" "19" "13372343" "13372343" "subst" "4.40323E-6" "01943" "CACNA1A_000458" "g.13372343C>T" "" "" "" "CACNA1A(NM_023035.2):c.4183G>A (p.A1395T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865889" "0" "30" "19" "13386708" "13386708" "subst" "1.21896E-5" "01943" "CACNA1A_000459" "g.13386708G>A" "" "" "" "CACNA1A(NM_023035.2):c.3957C>T (p.L1319=), CACNA1A(NM_023035.3):c.3957C>T (p.L1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865890" "0" "10" "19" "13397324" "13397324" "subst" "0.0173138" "01804" "CACNA1A_000027" "g.13397324G>A" "" "" "" "CACNA1A(NM_000068.3):c.3558C>T (p.(Val1186=)), CACNA1A(NM_001127222.2):c.3546C>T (p.V1182=), CACNA1A(NM_023035.2):c.3558C>T (p.V1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865891" "0" "30" "19" "13409419" "13409419" "subst" "0.003828" "01804" "CACNA1A_000212" "g.13409419G>C" "" "" "" "CACNA1A(NM_000068.3):c.3040C>G (p.(Pro1014Ala)), CACNA1A(NM_023035.3):c.3040C>G (p.P1014A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865892" "0" "30" "19" "13409492" "13409492" "subst" "0.00025892" "01804" "CACNA1A_000343" "g.13409492C>G" "" "" "" "CACNA1A(NM_000068.3):c.2967G>C (p.(Pro989=)), CACNA1A(NM_023035.2):c.2967G>C (p.P989=), CACNA1A(NM_023035.3):c.2967G>C (p.P989=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865893" "0" "30" "19" "13409603" "13409603" "subst" "0.000741719" "01804" "CACNA1A_000020" "g.13409603G>C" "" "" "" "CACNA1A(NM_000068.3):c.2856C>G (p.(Arg952=)), CACNA1A(NM_023035.2):c.2856C>G (p.R952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865894" "0" "90" "19" "13409639" "13409639" "dup" "0" "01804" "CACNA1A_000461" "g.13409639dup" "" "" "" "CACNA1A(NM_001127221.1):c.2816dup (p.(Ser940Glnfs*128))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865895" "0" "50" "19" "13414429" "13414429" "subst" "4.13076E-6" "02329" "CACNA1A_000462" "g.13414429T>C" "" "" "" "CACNA1A(NM_023035.3):c.2108-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865896" "0" "30" "19" "13419085" "13419085" "subst" "0.00899507" "01804" "CACNA1A_000233" "g.13419085G>A" "" "" "" "CACNA1A(NM_000068.3):c.1785-20C>T (p.(=)), CACNA1A(NM_023035.2):c.1785-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865897" "0" "30" "19" "13419235" "13419235" "subst" "0.0111273" "01804" "CACNA1A_000012" "g.13419235G>C" "" "" "" "CACNA1A(NM_000068.3):c.1779C>G (p.(Val593=)), CACNA1A(NM_023035.2):c.1779C>G (p.V593=), CACNA1A(NM_023035.3):c.1779C>G (p.V593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865898" "0" "30" "19" "13423525" "13423525" "subst" "0.00816004" "01804" "CACNA1A_000355" "g.13423525C>T" "" "" "" "CACNA1A(NM_000068.3):c.1629G>A (p.(Thr543=)), CACNA1A(NM_023035.2):c.1629G>A (p.T543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865899" "0" "30" "19" "13428124" "13428124" "subst" "0.00455098" "02326" "CACNA1A_000010" "g.13428124C>T" "" "" "" "CACNA1A(NM_001127222.1):c.1357G>A (p.(Ala453Thr)), CACNA1A(NM_023035.2):c.1360G>A (p.A454T), CACNA1A(NM_023035.3):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865900" "0" "30" "19" "13428125" "13428125" "subst" "1.22432E-5" "01804" "CACNA1A_000443" "g.13428125G>A" "" "" "" "CACNA1A(NM_000068.3):c.1359C>T (p.(=)), CACNA1A(NM_023035.2):c.1359C>T (p.F453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865901" "0" "30" "19" "13441051" "13441051" "subst" "0.00221171" "01804" "CACNA1A_000245" "g.13441051G>A" "" "" "" "CACNA1A(NM_000068.3):c.1348+7C>T (p.(=)), CACNA1A(NM_023035.2):c.1348+7C>T, CACNA1A(NM_023035.3):c.1348+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865902" "0" "10" "19" "13482554" "13482554" "subst" "0.0103272" "01804" "CACNA1A_000003" "g.13482554C>T" "" "" "" "CACNA1A(NM_000068.3):c.579G>A (p.(Thr193=)), CACNA1A(NM_023035.2):c.579G>A (p.T193=), CACNA1A(NM_023035.3):c.579G>A (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865903" "0" "70" "19" "13616913" "13616928" "dup" "0" "01804" "CACNA1A_000463" "g.13616913_13616928dup" "" "" "" "CACNA1A(NM_001127221.1):c.127_128insCAGGGCGGGCAGCCCG (p.(Gly43Alafs*38))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000873083" "20" "70" "19" "13335371" "13346648" "del" "0" "03208" "CACNA1A_000464" "g.(13325430_13335371)_(13346648_13352244)del" "" "Pennings et al. 2022, in progress" "" "NM_023035.3 exon 32i_39i" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000894797" "0" "10" "19" "13318695" "13318712" "del" "0" "02325" "CACNA1A_000090" "g.13318695_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*170_*187del (p.(=)), CACNA1A(NM_001127222.2):c.6958_6975delCAGCAGCAGCAGCAGCAG (p.Q2320_Q2325del), CACNA1A(NM_023035.3):c.69..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894798" "0" "50" "19" "13319574" "13319574" "subst" "0" "02329" "CACNA1A_000432" "g.13319574C>T" "" "" "" "CACNA1A(NM_023035.2):c.6794G>A (p.R2265Q), CACNA1A(NM_023035.3):c.6794G>A (p.R2265Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894799" "0" "50" "19" "13319607" "13319607" "subst" "0" "02325" "CACNA1A_000465" "g.13319607G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6743C>T (p.S2248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894800" "0" "10" "19" "13319625" "13319625" "subst" "0" "01804" "CACNA1A_000466" "g.13319625T>C" "" "" "" "CACNA1A(NM_000068.3):c.6743A>G (p.(Asp2248Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894801" "0" "10" "19" "13319693" "13319693" "subst" "0" "01804" "CACNA1A_000046" "g.13319693A>G" "" "" "" "CACNA1A(NM_000068.3):c.6675delinsC (p.(His2225=)), CACNA1A(NM_023035.2):c.6675T>C (p.H2225=), CACNA1A(NM_023035.3):c.6675T>C (p.H2225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894802" "0" "30" "19" "13320274" "13320274" "subst" "0.00471065" "01804" "CACNA1A_000145" "g.13320274G>A" "" "" "" "CACNA1A(NM_000068.3):c.6396C>T (p.(Ser2132=)), CACNA1A(NM_023035.3):c.6396C>T (p.S2132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894803" "0" "70" "19" "13345736" "13345736" "subst" "0" "02326" "CACNA1A_000467" "g.13345736G>A" "" "" "" "CACNA1A(NM_023035.3):c.5266C>T (p.R1756W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894804" "0" "30" "19" "13356070" "13356070" "subst" "1.21917E-5" "02325" "CACNA1A_000468" "g.13356070G>A" "" "" "" "CACNA1A(NM_001127222.2):c.4876C>T (p.R1626C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894805" "0" "30" "19" "13356083" "13356083" "subst" "0" "02325" "CACNA1A_000469" "g.13356083G>A" "" "" "" "CACNA1A(NM_001127222.2):c.4867-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894806" "0" "90" "19" "13366031" "13366031" "subst" "0" "02325" "CACNA1A_000180" "g.13366031G>A" "" "" "" "CACNA1A(NM_001127222.2):c.4633C>T (p.R1545*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894807" "0" "90" "19" "13372264" "13372264" "subst" "0" "02327" "CACNA1A_000470" "g.13372264C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894808" "0" "90" "19" "13386663" "13386663" "subst" "0" "02329" "CACNA1A_000471" "g.13386663C>T" "" "" "" "CACNA1A(NM_023035.3):c.4001+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894809" "0" "50" "19" "13386697" "13386697" "subst" "0" "01804" "CACNA1A_000472" "g.13386697A>C" "" "" "" "CACNA1A(NM_000068.3):c.3968T>G (p.(Val1323Gly)), CACNA1A(NM_023035.3):c.3968T>G (p.V1323G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894810" "0" "50" "19" "13386697" "13386697" "subst" "0" "02329" "CACNA1A_000472" "g.13386697A>C" "" "" "" "CACNA1A(NM_000068.3):c.3968T>G (p.(Val1323Gly)), CACNA1A(NM_023035.3):c.3968T>G (p.V1323G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894811" "0" "30" "19" "13397400" "13397400" "subst" "0" "01804" "CACNA1A_000473" "g.13397400G>A" "" "" "" "CACNA1A(NM_000068.3):c.3482C>T (p.(Ala1161Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894812" "0" "30" "19" "13409580" "13409580" "subst" "0.000194853" "02325" "CACNA1A_000474" "g.13409580C>A" "" "" "" "CACNA1A(NM_001127222.2):c.2867G>T (p.R956L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894813" "0" "70" "19" "13418982" "13418982" "subst" "0" "02325" "CACNA1A_000475" "g.13418982A>T" "" "" "" "CACNA1A(NM_001127222.2):c.1865T>A (p.L622Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894814" "0" "30" "19" "13419071" "13419071" "subst" "9.03617E-5" "01804" "CACNA1A_000476" "g.13419071G>A" "" "" "" "CACNA1A(NM_000068.3):c.1785-6C>T (p.(=)), CACNA1A(NM_023035.3):c.1785-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894815" "0" "10" "19" "13419313" "13419313" "subst" "0.00360576" "01804" "CACNA1A_000237" "g.13419313G>A" "" "" "" "CACNA1A(NM_000068.3):c.1701C>T (p.(Ile567=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894816" "0" "70" "19" "13446674" "13446674" "del" "0" "02329" "CACNA1A_000477" "g.13446674del" "" "" "" "CACNA1A(NM_023035.3):c.1028delT (p.L343Pfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894817" "0" "50" "19" "13470492" "13470492" "subst" "0" "02329" "CACNA1A_000478" "g.13470492G>T" "" "" "" "CACNA1A(NM_023035.3):c.906C>A (p.D302E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894818" "0" "50" "19" "13470592" "13470592" "subst" "0" "02325" "CACNA1A_000479" "g.13470592G>A" "" "" "" "CACNA1A(NM_001127222.2):c.806C>T (p.P269L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908538" "21" "50" "19" "13441141" "13441141" "subst" "0.000163913" "00006" "CACNA1A_000480" "g.13441141C>T" "" "{PMID:Zhou 2018:29314583}" "" "R422Q" "" "Germline" "" "" "0" "" "" "g.13330327C>T" "" "VUS" "ACMG" "0000915136" "0" "50" "19" "13321453" "13321453" "subst" "0" "01804" "CACNA1A_000481" "g.13321453C>T" "" "" "" "CACNA1A(NM_000068.3):c.6335G>A (p.(Arg2112Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915137" "0" "50" "19" "13323003" "13323003" "subst" "0" "02329" "CACNA1A_000482" "g.13323003C>T" "" "" "" "CACNA1A(NM_023035.3):c.6235G>A (p.D2079N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915138" "0" "30" "19" "13323261" "13323261" "subst" "0.0018658" "01804" "CACNA1A_000153" "g.13323261C>T" "" "" "" "CACNA1A(NM_000068.3):c.6144G>A (p.(Thr2048=)), CACNA1A(NM_023035.2):c.6144G>A (p.T2048=), CACNA1A(NM_023035.3):c.6144G>A (p.T2048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915139" "0" "70" "19" "13366074" "13366074" "subst" "0" "02327" "CACNA1A_000483" "g.13366074C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915140" "0" "30" "19" "13397460" "13397460" "subst" "2.64542E-5" "01804" "CACNA1A_000338" "g.13397460G>T" "" "" "" "CACNA1A(NM_000068.3):c.3422C>A (p.(Pro1141His)), CACNA1A(NM_023035.2):c.3422C>A (p.P1141H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915142" "0" "50" "19" "13476277" "13476277" "subst" "0" "01804" "CACNA1A_000485" "g.13476277T>A" "" "" "" "CACNA1A(NM_001127221.1):c.638A>T (p.(Gln213Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921072" "11" "70" "19" "13397465" "13397465" "dup" "0" "03544" "CACNA1A_000486" "g.13397465dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13286651dup" "" "likely pathogenic (dominant)" "ACMG" "0000921857" "0" "90" "19" "13409884" "13409884" "subst" "0" "00006" "CACNA1A_000487" "g.13409884C>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.13299070C>A" "" "pathogenic (dominant)" "" "0000926817" "0" "90" "19" "13339555" "13339556" "del" "0" "02325" "CACNA1A_000488" "g.13339555_13339556del" "" "" "" "CACNA1A(NM_001127221.1):c.5588_5589delTC (p.L1863Rfs*9), CACNA1A(NM_001127221.2):c.5588_5589del (p.(Leu1863Argfs*9)), CACNA1A(NM_001127222.2):c.552..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926818" "0" "90" "19" "13346499" "13346499" "subst" "0" "01804" "CACNA1A_000053" "g.13346499G>A" "" "" "" "CACNA1A(NM_000068.3):c.5014C>T (p.(Arg1672Trp)), CACNA1A(NM_001127221.2):c.4999C>T (p.R1667W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926819" "0" "90" "19" "13396015" "13396015" "del" "0" "01804" "CACNA1A_000489" "g.13396015del" "" "" "" "CACNA1A(NM_001127221.1):c.3566del (p.(Asn1189ThrfsTer53))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926820" "0" "30" "19" "13397339" "13397339" "subst" "0.000140449" "01804" "CACNA1A_000490" "g.13397339G>C" "" "" "" "CACNA1A(NM_000068.3):c.3543C>G (p.(Pro1181=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926821" "0" "30" "19" "13419212" "13419212" "subst" "0.00538898" "01804" "CACNA1A_000235" "g.13419212G>T" "" "" "" "CACNA1A(NM_000068.3):c.1784+18C>A (p.(=)), CACNA1A(NM_023035.2):c.1784+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926822" "0" "70" "19" "13616743" "13616743" "subst" "0" "01804" "CACNA1A_000491" "g.13616743T>G" "" "" "" "CACNA1A(NM_001127221.1):c.293+3A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931005" "0" "30" "19" "13323033" "13323033" "subst" "0" "02325" "CACNA1A_000492" "g.13323033G>A" "" "" "" "CACNA1A(NM_001127222.2):c.6190-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931006" "0" "30" "19" "13323033" "13323033" "subst" "7.3315E-5" "02325" "CACNA1A_000493" "g.13323033G>T" "" "" "" "CACNA1A(NM_001127221.2):c.6193-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931007" "0" "50" "19" "13394157" "13394157" "subst" "0" "01804" "CACNA1A_000494" "g.13394157A>T" "" "" "" "CACNA1A(NM_001127221.1):c.3749T>A (p.(Ile1250Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931008" "0" "30" "19" "13563673" "13563673" "subst" "9.79728E-5" "02326" "CACNA1A_000495" "g.13563673T>C" "" "" "" "CACNA1A(NM_023035.3):c.539+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931009" "0" "30" "19" "13563767" "13563767" "subst" "0.00222159" "01804" "CACNA1A_000271" "g.13563767G>A" "" "" "" "CACNA1A(NM_000068.3):c.462C>T (p.(Ala154=)), CACNA1A(NM_023035.2):c.462C>T (p.A154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931790" "1" "50" "19" "13395973" "13395975" "del" "0" "00006" "CACNA1A_000205" "g.13395973_13395975del" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.13285159_13285161del" "" "VUS" "" "0000935905" "0" "90" "19" "13372340" "13372340" "subst" "0" "00006" "CACNA1A_000331" "g.13372340C>T" "" "{PMID:Chuan 2022:35571021}" "" "NM_023035.3:c.4177G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13261526C>T" "" "pathogenic (dominant)" "" "0000935959" "0" "70" "19" "13346451" "13346451" "subst" "0" "00006" "CACNA1A_000496" "g.13346451A>G" "" "{PMID:Chuan 2022:35571021}" "" "NM_023035.3:c.5062T>C" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.13235637A>G" "" "likely pathogenic (dominant)" "ACMG" "0000936354" "0" "90" "19" "13414398" "13414398" "subst" "0" "00006" "CACNA1A_000226" "g.13414398C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_023035:c.G2137A (A713T)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936370" "0" "70" "19" "13372340" "13372340" "subst" "0" "00006" "CACNA1A_000331" "g.13372340C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_023035:c.G4186A (V1396M)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000946122" "0" "50" "19" "13345845" "13345845" "subst" "0" "00006" "CACNA1A_000497" "g.13345845A>T" "" "{PMID:Westra 2019:31127727}" "" "NM_023035.2:c.5157T>A" "de novo; does not explain clinics" "Germline/De novo (untested)" "" "" "0" "" "" "g.13235031A>T" "" "VUS" "" "0000951219" "0" "70" "19" "13345735" "13345735" "subst" "4.0619E-6" "02327" "CACNA1A_000498" "g.13345735C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951220" "0" "30" "19" "13397461" "13397461" "subst" "0.000432658" "02325" "CACNA1A_000207" "g.13397461G>C" "" "" "" "CACNA1A(NM_000068.3):c.3421C>G (p.(Pro1141Ala)), CACNA1A(NM_001127221.2):c.3412C>G (p.P1138A), CACNA1A(NM_023035.2):c.3421C>G (p.P1141A), CACNA1A...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951222" "0" "30" "19" "13446664" "13446664" "subst" "0" "02326" "CACNA1A_000500" "g.13446664G>A" "" "" "" "CACNA1A(NM_023035.3):c.1038C>T (p.I346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969570" "0" "30" "19" "13318379" "13318384" "del" "0" "02326" "CACNA1A_000289" "g.13318379_13318384del" "" "" "" "CACNA1A(NM_000068.3):c.*478_*483del (p.(=)), CACNA1A(NM_023035.3):c.7284_7289delCAGCGG (p.S2429_G2430del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969579" "0" "50" "19" "13320158" "13320158" "subst" "0" "02327" "CACNA1A_000501" "g.13320158C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969581" "0" "90" "19" "13340999" "13340999" "subst" "0" "01804" "CACNA1A_000039" "g.13340999T>G" "" "" "" "CACNA1A(NM_001127221.1):c.5428A>C (p.(Ile1810Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969582" "0" "50" "19" "13342519" "13342519" "subst" "0" "02327" "CACNA1A_000503" "g.13342519C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969583" "0" "90" "19" "13370440" "13370440" "subst" "0" "02327" "CACNA1A_000504" "g.13370440G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969587" "0" "10" "19" "13423537" "13423537" "subst" "0.00160863" "01804" "CACNA1A_000239" "g.13423537G>A" "" "" "" "CACNA1A(NM_000068.3):c.1617C>T (p.(Tyr539=)), CACNA1A(NM_023035.2):c.1617C>T (p.Y539=), CACNA1A(NM_023035.3):c.1617C>T (p.Y539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000969588" "0" "70" "19" "13428055" "13428055" "subst" "0" "02327" "CACNA1A_000506" "g.13428055G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983224" "0" "50" "19" "13317550" "13317550" "subst" "0" "01804" "CACNA1A_000507" "g.13317550G>A" "" "" "" "CACNA1A(NM_001127222.2):c.*577C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983225" "0" "30" "19" "13318190" "13318190" "subst" "5.48975E-5" "01804" "CACNA1A_000508" "g.13318190G>A" "" "" "" "CACNA1A(NM_000068.3):c.*670C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983226" "0" "30" "19" "13318638" "13318638" "subst" "4.39136E-5" "01804" "CACNA1A_000509" "g.13318638C>T" "" "" "" "CACNA1A(NM_001127222.2):c.7010G>A (p.(Gly2337Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983227" "0" "30" "19" "13319694" "13319694" "subst" "0" "01804" "CACNA1A_000510" "g.13319694T>G" "" "" "" "CACNA1A(NM_001127222.2):c.6656A>C (p.(His2219Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983228" "0" "30" "19" "13325161" "13325161" "subst" "0.000573846" "01804" "CACNA1A_000511" "g.13325161C>T" "" "" "" "CACNA1A(NM_000068.3):c.5858-14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983229" "0" "50" "19" "13325398" "13325398" "subst" "0" "01804" "CACNA1A_000512" "g.13325398T>A" "" "" "" "CACNA1A(NM_001127222.2):c.5756A>T (p.(Asp1919Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983230" "0" "30" "19" "13345796" "13345796" "subst" "2.84262E-5" "01804" "CACNA1A_000513" "g.13345796A>G" "" "" "" "CACNA1A(NM_001127222.2):c.5188T>C (p.(Phe1730Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983231" "0" "30" "19" "13386708" "13386708" "subst" "1.21896E-5" "02326" "CACNA1A_000459" "g.13386708G>A" "" "" "" "CACNA1A(NM_023035.2):c.3957C>T (p.L1319=), CACNA1A(NM_023035.3):c.3957C>T (p.L1319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983232" "0" "50" "19" "13409548" "13409548" "subst" "0" "01804" "CACNA1A_000514" "g.13409548C>T" "" "" "" "CACNA1A(NM_001127222.2):c.2899G>A (p.(Glu967Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983233" "0" "50" "19" "13409595" "13409595" "subst" "0" "01804" "CACNA1A_000021" "g.13409595G>A" "" "" "" "CACNA1A(NM_001127222.2):c.2852C>T (p.(Ala951Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983234" "0" "30" "19" "13419071" "13419071" "subst" "9.03617E-5" "02326" "CACNA1A_000476" "g.13419071G>A" "" "" "" "CACNA1A(NM_000068.3):c.1785-6C>T (p.(=)), CACNA1A(NM_023035.3):c.1785-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983235" "0" "30" "19" "13448761" "13448761" "subst" "0" "01804" "CACNA1A_000515" "g.13448761C>T" "" "" "" "CACNA1A(NM_001127222.2):c.979-2038G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985200" "0" "90" "19" "13368258" "13368260" "del" "0" "03544" "CACNA1A_000516" "g.13368258_13368260del" "" "" "" "" "" "Germline" "yes" "rs886041279" "0" "" "" "g.13257444_13257446del" "{CV:279951}" "pathogenic" "ACMG" "0000985288" "0" "90" "19" "13320255" "13320255" "subst" "0" "03544" "CACNA1A_000517" "g.13320255G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.13209441G>A" "" "pathogenic" "ACMG" "0000985381" "0" "70" "19" "13470509" "13470509" "subst" "0" "03544" "CACNA1A_000518" "g.13470509C>T" "" "" "" "" "" "Germline" "yes" "rs1168625480" "0" "" "" "g.13359695C>T" "{CV:566307}" "likely pathogenic" "ACMG" "0000988415" "11" "70" "19" "13346057" "13346057" "subst" "0" "01164" "CACNA1A_000519" "g.13346057A>C" "" "" "" "" "ACMG: PP3_STR, PM2_SUP, PP1, PP2" "Germline" "yes" "" "" "" "" "g.13235243A>C" "" "likely pathogenic (dominant)" "ACMG" "0001004381" "0" "30" "19" "13318282" "13318282" "subst" "0" "01804" "CACNA1A_000520" "g.13318282G>C" "" "" "" "CACNA1A(NM_001127221.1):c.*578C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004382" "0" "50" "19" "13318521" "13318521" "subst" "0" "01804" "CACNA1A_000521" "g.13318521C>T" "" "" "" "CACNA1A(NM_001127222.1):c.7127G>A (p.(Arg2376Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004383" "0" "50" "19" "13318687" "13318688" "del" "0" "01804" "CACNA1A_000522" "g.13318687_13318688del" "" "" "" "CACNA1A(NM_001127222.1):c.6960_6961delGC (p.(Gln2321fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004384" "0" "30" "19" "13318704" "13318712" "del" "0" "02326" "CACNA1A_000089" "g.13318704_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*161_*169del (p.(=)), CACNA1A(NM_023035.3):c.6985_6993delCAGCAGCAG (p.Q2329_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004385" "0" "30" "19" "13319731" "13319739" "dup" "0" "01804" "CACNA1A_000523" "g.13319731_13319739dup" "" "" "" "CACNA1A(NM_001127221.1):c.6618_6626dupGAAGCATCG (p.(Arg2209_Gln2210insLysHisArg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004386" "0" "30" "19" "13319767" "13319767" "subst" "7.33805E-6" "01804" "CACNA1A_000524" "g.13319767G>A" "" "" "" "CACNA1A(NM_001127222.1):c.6583C>T (p.(Arg2195Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004387" "0" "30" "19" "13319778" "13319778" "subst" "1.46873E-5" "01804" "CACNA1A_000525" "g.13319778G>A" "" "" "" "CACNA1A(NM_001127221.1):c.6575C>T (p.(Pro2192Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004388" "0" "30" "19" "13320227" "13320227" "subst" "0" "01804" "CACNA1A_000144" "g.13320227C>T" "" "" "" "CACNA1A(NM_001127222.1):c.6425G>A (p.(Arg2142Gln)), CACNA1A(NM_001127222.2):c.6425G>A (p.R2142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004389" "0" "30" "19" "13322954" "13322954" "subst" "1.2233E-5" "01804" "CACNA1A_000150" "g.13322954C>T" "" "" "" "CACNA1A(NM_001127221.1):c.6269G>A (p.(Arg2090Gln)), CACNA1A(NM_001127221.2):c.6269G>A (p.R2090Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004390" "0" "50" "19" "13322988" "13322988" "subst" "1.62658E-5" "01804" "CACNA1A_000526" "g.13322988T>C" "" "" "" "CACNA1A(NM_001127222.1):c.6232A>G (p.(Ser2078Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004391" "0" "30" "19" "13323008" "13323008" "subst" "0" "01804" "CACNA1A_000527" "g.13323008C>A" "" "" "" "CACNA1A(NM_001127221.1):c.6215G>T (p.(Gly2072Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004392" "0" "30" "19" "13323494" "13323494" "subst" "3.75314E-5" "01804" "CACNA1A_000314" "g.13323494G>A" "" "" "" "CACNA1A(NM_001127221.1):c.6004C>T (p.(Pro2002Ser)), CACNA1A(NM_023035.2):c.6019C>T (p.P2007S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004393" "0" "30" "19" "13345814" "13345814" "subst" "2.43649E-5" "01804" "CACNA1A_000528" "g.13345814C>T" "" "" "" "CACNA1A(NM_001127221.1):c.5173G>A (p.(Asp1725Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004394" "0" "90" "19" "13346499" "13346499" "subst" "0" "02325" "CACNA1A_000053" "g.13346499G>A" "" "" "" "CACNA1A(NM_000068.3):c.5014C>T (p.(Arg1672Trp)), CACNA1A(NM_001127221.2):c.4999C>T (p.R1667W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004395" "0" "30" "19" "13356069" "13356069" "subst" "4.06336E-5" "01804" "CACNA1A_000529" "g.13356069C>T" "" "" "" "CACNA1A(NM_001127221.1):c.4880G>A (p.(Arg1627His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004396" "0" "30" "19" "13363912" "13363912" "subst" "0" "01804" "CACNA1A_000530" "g.13363912A>G" "" "" "" "CACNA1A(NM_001127222.1):c.4759T>C (p.(Tyr1587His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004397" "0" "30" "19" "13386742" "13386742" "subst" "0" "01804" "CACNA1A_000531" "g.13386742T>C" "" "" "" "CACNA1A(NM_001127222.1):c.3911A>G (p.(Gln1304Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004398" "0" "50" "19" "13395952" "13395952" "subst" "1.64103E-5" "01804" "CACNA1A_000532" "g.13395952C>T" "" "" "" "CACNA1A(NM_001127222.1):c.3622G>A (p.(Asp1208Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004399" "0" "30" "19" "13397413" "13397413" "subst" "0.0003495" "01804" "CACNA1A_000533" "g.13397413G>C" "" "" "" "CACNA1A(NM_000068.3):c.3469C>G (p.(Gln1157Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004400" "0" "50" "19" "13397487" "13397487" "subst" "9.68495E-6" "01804" "CACNA1A_000534" "g.13397487G>A" "" "" "" "CACNA1A(NM_001127222.1):c.3383C>T (p.(Pro1128Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004401" "0" "50" "19" "13397524" "13397524" "subst" "0" "01804" "CACNA1A_000535" "g.13397524G>A" "" "" "" "CACNA1A(NM_001127222.1):c.3346C>T (p.(Pro1116Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004402" "0" "50" "19" "13397608" "13397608" "subst" "0" "01804" "CACNA1A_000536" "g.13397608C>T" "" "" "" "CACNA1A(NM_001127222.1):c.3262G>A (p.(Ala1088Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004403" "0" "50" "19" "13409445" "13409445" "subst" "0" "01804" "CACNA1A_000537" "g.13409445C>A" "" "" "" "CACNA1A(NM_001127221.1):c.3005G>T (p.(Arg1002Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004404" "0" "30" "19" "13409760" "13409760" "subst" "0.00109475" "01804" "CACNA1A_000058" "g.13409760G>C" "" "" "" "CACNA1A(NM_000068.3):c.2699C>G (p.(Pro900Arg)), CACNA1A(NM_023035.2):c.2699C>G (p.P900R), CACNA1A(NM_023035.3):c.2699C>G (p.P900R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004405" "0" "50" "19" "13410043" "13410043" "subst" "4.51894E-5" "01804" "CACNA1A_000365" "g.13410043G>T" "" "" "" "CACNA1A(NM_001127222.1):c.2404C>A (p.(Arg802Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004406" "0" "50" "19" "13410045" "13410045" "subst" "0" "01804" "CACNA1A_000538" "g.13410045T>C" "" "" "" "CACNA1A(NM_001127222.1):c.2402A>G (p.(Glu801Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004407" "0" "30" "19" "13423526" "13423526" "subst" "0" "01804" "CACNA1A_000539" "g.13423526G>A" "" "" "" "CACNA1A(NM_001127222.1):c.1625C>T (p.(Thr542Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004408" "0" "30" "19" "13428054" "13428054" "subst" "2.44047E-5" "01804" "CACNA1A_000540" "g.13428054C>T" "" "" "" "CACNA1A(NM_001127222.1):c.1427G>A (p.(Arg476His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004409" "0" "30" "19" "13428124" "13428124" "subst" "0.00455098" "01804" "CACNA1A_000010" "g.13428124C>T" "" "" "" "CACNA1A(NM_001127222.1):c.1357G>A (p.(Ala453Thr)), CACNA1A(NM_023035.2):c.1360G>A (p.A454T), CACNA1A(NM_023035.3):c.1360G>A (p.A454T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004410" "0" "30" "19" "13445220" "13445220" "subst" "8.12321E-6" "01804" "CACNA1A_000360" "g.13445220A>T" "" "" "" "CACNA1A(NM_001127222.1):c.1170T>A (p.(Asn390Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004411" "0" "50" "19" "13446633" "13446633" "subst" "0" "01804" "CACNA1A_000284" "g.13446633C>T" "" "" "" "CACNA1A(NM_001127221.1):c.1069G>A (p.(Gly357Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011889" "0" "90" "19" "13476262" "13476262" "subst" "0" "00006" "CACNA1A_000004" "g.13476262G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.13365448G>A" "VCV000008504.1" "pathogenic" "" "0001011957" "0" "90" "19" "13373546" "13373546" "subst" "0" "00006" "CACNA1A_000541" "g.13373546A>C" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.13262732A>C" "SUB7802927" "pathogenic" "" "0001011959" "0" "90" "19" "13419266" "13419266" "subst" "4.06643E-6" "00006" "CACNA1A_000011" "g.13419266C>T" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.13308452C>T" "VCV000008505.1" "pathogenic" "" "0001012722" "0" "70" "19" "13346498" "13346498" "subst" "0" "03544" "CACNA1A_000542" "g.13346498C>T" "" "" "" "" "" "Germline" "yes" "rs1568447650" "0" "" "" "g.13235684C>T" "{CV:585575}" "pathogenic" "ACMG" "0001015745" "0" "30" "19" "13318698" "13318712" "del" "0" "02326" "CACNA1A_000127" "g.13318698_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*161_*175del (p.(=)), CACNA1A(NM_023035.3):c.6979_6993delCAGCAGCAGCAGCAG (p.Q2327_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015746" "0" "50" "19" "13321465" "13321465" "subst" "0" "02329" "CACNA1A_000543" "g.13321465C>T" "" "" "" "CACNA1A(NM_023035.3):c.6323G>A (p.R2108K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015747" "0" "50" "19" "13340947" "13340947" "subst" "0" "02327" "CACNA1A_000544" "g.13340947T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015749" "0" "50" "19" "13387926" "13387926" "subst" "0" "02329" "CACNA1A_000546" "g.13387926T>C" "" "" "" "CACNA1A(NM_023035.3):c.3851A>G (p.D1284G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015750" "0" "30" "19" "13394202" "13394202" "subst" "0.000150276" "02325" "CACNA1A_000547" "g.13394202C>T" "" "" "" "CACNA1A(NM_001127221.2):c.3704G>A (p.R1235H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015751" "0" "70" "19" "13446685" "13446685" "subst" "0" "02327" "CACNA1A_000548" "g.13446685G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015752" "0" "90" "19" "13470563" "13470563" "subst" "0" "02327" "CACNA1A_000263" "g.13470563G>A" "" "" "" "CACNA1A(NM_023035.3):c.835C>T (p.R279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001020092" "0" "70" "19" "13409598" "13409607" "del" "0" "03544" "CACNA1A_000549" "g.13409598_13409607del" "" "" "" "2844_2853del" "" "Germline" "yes" "rs1555755977" "0" "" "" "g.13298784_13298793del" "{CV:424375}" "likely pathogenic" "ACMG" "0001020260" "0" "70" "19" "13409745" "13409745" "subst" "0" "03544" "CACNA1A_000550" "g.13409745G>T" "" "" "" "g.13409748G>T" "" "Germline" "yes" "" "0" "" "" "g.13298931G>T" "" "likely pathogenic" "ACMG" "0001027179" "0" "30" "19" "13318701" "13318712" "del" "0" "02326" "CACNA1A_000448" "g.13318701_13318712del" "" "" "" "CACNA1A(NM_000068.3):c.*176_*187del (p.(=)), CACNA1A(NM_023035.3):c.6982_6993delCAGCAGCAGCAG (p.Q2328_Q2331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027180" "0" "30" "19" "13411451" "13411451" "subst" "0.0105871" "01943" "CACNA1A_000223" "g.13411451T>G" "" "" "" "CACNA1A(NM_000068.3):c.2204A>C (p.(Glu735Ala)), CACNA1A(NM_023035.2):c.2204A>C (p.E735A), CACNA1A(NM_023035.3):c.2204A>C (p.E735A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030017" "0" "70" "19" "13373565" "13373565" "subst" "0" "01164" "CACNA1A_000332" "g.13373565G>A" "" "" "" "" "ACMG: PS2, PM1, PM5, PP3_MOD, PM2_SUP; PMID 24091540, 26863999, 31618753" "De novo" "-" "" "0" "" "" "g.13262751G>A" "VCV000448996.15" "pathogenic (dominant)" "ACMG" "0001030854" "0" "90" "19" "13397415" "13397415" "del" "0" "04830" "CACNA1A_000551" "g.13397415del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.13286601del" "" "pathogenic (dominant)" "" "0001042639" "0" "30" "19" "13318591" "13318591" "subst" "0" "01804" "CACNA1A_000552" "g.13318591G>A" "" "" "" "CACNA1A(NM_001127222.2):c.7057C>T (p.(Arg2353Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042640" "0" "50" "19" "13318607" "13318607" "subst" "0" "01804" "CACNA1A_000553" "g.13318607C>G" "" "" "" "CACNA1A(NM_001127222.2):c.7041G>C (p.(Glu2347Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042641" "0" "50" "19" "13319617" "13319617" "subst" "0" "01804" "CACNA1A_000554" "g.13319617A>C" "" "" "" "CACNA1A(NM_001127222.2):c.6733T>G (p.(Trp2245Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042642" "0" "50" "19" "13319691" "13319691" "subst" "0" "02325" "CACNA1A_000555" "g.13319691G>A" "" "" "" "CACNA1A(NM_001127221.2):c.6662C>T (p.P2221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042643" "0" "50" "19" "13319713" "13319713" "subst" "0" "01804" "CACNA1A_000556" "g.13319713G>T" "" "" "" "CACNA1A(NM_001127222.2):c.6637C>A (p.(His2213Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042644" "0" "50" "19" "13319717" "13319722" "del" "0" "01804" "CACNA1A_000557" "g.13319717_13319722del" "" "" "" "CACNA1A(NM_001127222.2):c.6651_6656del (p.(His2218_His2219del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042645" "0" "30" "19" "13319717" "13319722" "dup" "0" "01804" "CACNA1A_000100" "g.13319717_13319722dup" "" "" "" "CACNA1A(NM_001127222.2):c.6651_6656dup (p.(His2218_His2219dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042646" "0" "30" "19" "13320188" "13320188" "subst" "2.09231E-5" "02326" "CACNA1A_000306" "g.13320188C>A" "" "" "" "CACNA1A(NM_023035.2):c.6482G>T (p.R2161L), CACNA1A(NM_023035.3):c.6482G>T (p.R2161L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042647" "0" "30" "19" "13323449" "13323449" "subst" "0" "01804" "CACNA1A_000558" "g.13323449C>G" "" "" "" "CACNA1A(NM_001127222.2):c.6046G>C (p.(Ala2016Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042648" "0" "70" "19" "13339555" "13339556" "del" "0" "01804" "CACNA1A_000488" "g.13339555_13339556del" "" "" "" "CACNA1A(NM_001127221.1):c.5588_5589delTC (p.L1863Rfs*9), CACNA1A(NM_001127221.2):c.5588_5589del (p.(Leu1863Argfs*9)), CACNA1A(NM_001127222.2):c.552..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042649" "0" "90" "19" "13339555" "13339556" "del" "0" "02326" "CACNA1A_000488" "g.13339555_13339556del" "" "" "" "CACNA1A(NM_001127221.1):c.5588_5589delTC (p.L1863Rfs*9), CACNA1A(NM_001127221.2):c.5588_5589del (p.(Leu1863Argfs*9)), CACNA1A(NM_001127222.2):c.552..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042650" "0" "30" "19" "13341436" "13341436" "subst" "0" "01804" "CACNA1A_000559" "g.13341436T>C" "" "" "" "CACNA1A(NM_001127222.2):c.5401-413A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042651" "0" "30" "19" "13364576" "13364576" "subst" "0" "01804" "CACNA1A_000560" "g.13364576C>T" "" "" "" "CACNA1A(NM_001127222.2):c.4756-661G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042652" "0" "50" "19" "13365962" "13365962" "subst" "0" "01804" "CACNA1A_000561" "g.13365962C>T" "" "" "" "CACNA1A(NM_001127222.2):c.4702G>A (p.(Glu1568Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042653" "0" "70" "19" "13370479" "13370479" "del" "0" "02325" "CACNA1A_000562" "g.13370479del" "" "" "" "CACNA1A(NM_001127221.2):c.4291delG (p.A1431Rfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042654" "0" "30" "19" "13391189" "13391189" "subst" "0" "01804" "CACNA1A_000563" "g.13391189A>G" "" "" "" "CACNA1A(NM_001127222.2):c.3822+2892T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042655" "0" "30" "19" "13397323" "13397323" "subst" "6.56748E-5" "01804" "CACNA1A_000028" "g.13397323C>T" "" "" "" "CACNA1A(NM_001127222.2):c.3547G>A (p.(Val1183Ile)), CACNA1A(NM_023035.2):c.3559G>A (p.V1187I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042656" "0" "50" "19" "13409430" "13409430" "subst" "2.24854E-5" "01804" "CACNA1A_000564" "g.13409430C>G" "" "" "" "CACNA1A(NM_001127222.2):c.3017G>C (p.(Arg1006Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042657" "0" "30" "19" "13409952" "13409954" "del" "0" "01804" "CACNA1A_000565" "g.13409952_13409954del" "" "" "" "CACNA1A(NM_001127222.2):c.2501_2503del (p.(Asn834del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042658" "0" "30" "19" "13411977" "13411977" "subst" "0" "01804" "CACNA1A_000566" "g.13411977C>T" "" "" "" "CACNA1A(NM_001127222.2):c.2173-507G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042659" "0" "50" "19" "13414722" "13414722" "subst" "0" "01804" "CACNA1A_000567" "g.13414722C>T" "" "" "" "CACNA1A(NM_001127222.2):c.1987-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042660" "0" "50" "19" "13418597" "13418597" "subst" "0" "02327" "CACNA1A_000568" "g.13418597T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042661" "0" "50" "19" "13441061" "13441061" "subst" "0" "01804" "CACNA1A_000359" "g.13441061C>A" "" "" "" "CACNA1A(NM_001127222.2):c.1342G>T (p.(Val448Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042662" "0" "50" "19" "13470554" "13470554" "subst" "0" "01804" "CACNA1A_000569" "g.13470554G>A" "" "" "" "CACNA1A(NM_001127222.2):c.844C>T (p.(Pro282Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042663" "0" "30" "19" "13506089" "13506090" "ins" "0" "01804" "CACNA1A_000570" "g.13506089_13506090insC" "" "" "" "CACNA1A(NM_001127222.2):c.540-23497_540-23496insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046718" "0" "50" "19" "13323521" "13323521" "del" "0" "02325" "CACNA1A_000571" "g.13323521del" "" "" "" "CACNA1A(NM_001127222.2):c.5978delC (p.P1993Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046719" "0" "50" "19" "13346528" "13346528" "subst" "0" "02325" "CACNA1A_000323" "g.13346528A>C" "" "" "" "CACNA1A(NM_001127221.2):c.4970T>G (p.L1657R), CACNA1A(NM_023035.2):c.4985T>G (p.L1662R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046720" "0" "30" "19" "13482515" "13482515" "subst" "0" "02327" "CACNA1A_000572" "g.13482515C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046721" "0" "50" "19" "13566015" "13566015" "subst" "0" "02325" "CACNA1A_000573" "g.13566015T>A" "" "" "" "CACNA1A(NM_001127221.2):c.305A>T (p.Y102F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047580" "0" "90" "19" "13372340" "13372340" "subst" "0" "04169" "CACNA1A_000331" "g.13372340C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13261526C>T" "195935" "pathogenic (dominant)" "ACMG" "0001047581" "0" "70" "19" "13394116" "13394116" "subst" "0" "04169" "CACNA1A_000574" "g.13394116C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13283302C>T" "542820" "likely pathogenic (dominant)" "ACMG" "0001049029" "1" "90" "19" "13482559" "13482559" "subst" "0" "00006" "CACNA1A_000575" "g.13482559G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.574C>T" "" "Germline" "" "" "0" "" "" "g.13371745G>A" "" "pathogenic (dominant)" "" ## 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 CACNA1A ## Count = 1722 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/Protein/Domain}}" "0000084836" "00024115" "90" "5569" "0" "5569" "0" "c.5569C>T" "r.(?)" "p.(Arg1857*)" "38" "" "" "0000116956" "00024115" "50" "6604" "0" "6604" "0" "c.6604C>T" "r.(?)" "p.(Arg2202Trp)" "46" "" "" "0000147290" "00024115" "90" "301" "0" "301" "0" "c.301G>C" "r.(?)" "p.(Glu101Gln)" "2" "" "" "0000147290" "00025282" "00" "301" "0" "301" "0" "c.301G>C" "r.(?)" "p.(Glu101Gln)" "" "" "" "0000147291" "00024115" "50" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "" "0000147291" "00025282" "00" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "" "" "" "0000147292" "00024115" "90" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "17" "" "" "0000147292" "00025282" "00" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "" "" "" "0000147293" "00024115" "90" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "17" "" "" "0000147293" "00025282" "00" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "" "" "" "0000147294" "00024115" "90" "4522" "0" "4522" "0" "c.4522G>T" "r.(?)" "p.(Ala1508Ser)" "27" "" "" "0000147294" "00025282" "00" "4531" "0" "4531" "0" "c.4531G>T" "r.(?)" "p.(Ala1511Ser)" "" "" "" "0000170830" "00024115" "90" "5018" "0" "5018" "0" "c.5018G>C" "r.(?)" "p.(Arg1673Pro)" "32" "" "" "0000178001" "00024115" "10" "-77" "0" "-77" "0" "c.-77A>C" "r.(?)" "p.(=)" "1" "" "" "0000178002" "00024115" "10" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.Arg192Gln" "4" "" "" "0000178003" "00024115" "10" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(=)" "23" "" "" "0000178004" "00024115" "10" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(=)" "23" "" "" "0000178005" "00024115" "10" "3867" "0" "3867" "0" "c.3867T>C" "r.(?)" "p.(=)" "23" "" "" "0000178006" "00024115" "10" "3886" "-90" "3886" "-90" "c.3886-90G>A" "r.(?)" "p.(=)" "23i" "" "" "0000178007" "00024115" "10" "3886" "-90" "3886" "-90" "c.3886-90G>A" "r.(?)" "p.(=)" "23i" "" "" "0000178008" "00024115" "10" "3886" "-71" "3886" "-71" "c.3886-71G>A" "r.(?)" "p.(=)" "23i" "" "" "0000178011" "00024115" "10" "4092" "71" "4092" "71" "c.4092+71T>C" "r.(?)" "p.(=)" "25i" "" "" "0000178012" "00024115" "10" "4092" "71" "4092" "71" "c.4092+71T>C" "r.(?)" "p.(=)" "25i" "" "" "0000178013" "00024115" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "4" "" "" "0000178016" "00024115" "10" "4254" "-133" "4254" "-133" "c.4254-133G>A" "r.(?)" "p.(=)" "26i" "" "" "0000178017" "00024115" "10" "4254" "-81" "4254" "-81" "c.4254-81C>G" "r.(?)" "p.(=)" "26i" "" "" "0000178019" "00024115" "10" "4593" "33" "4593" "33" "c.4593+33A>G" "r.(?)" "p.(=)" "28i" "" "" "0000178021" "00024115" "55" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(=)" "29" "" "" "0000178022" "00024115" "55" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(=)" "29" "" "" "0000178023" "00024115" "10" "4635" "0" "4635" "0" "c.4635C>T" "r.(=)" "p.(=)" "29" "" "" "0000178024" "00024115" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "4" "" "" "0000178025" "00024115" "10" "4759" "-97" "4759" "-97" "c.4759-97G>A" "r.(?)" "p.(=)" "29i" "" "" "0000178026" "00024115" "10" "4758" "52" "4758" "52" "c.4758+52G>T" "r.(=)" "p.(=)" "29i" "" "" "0000178027" "00024115" "10" "4758" "52" "4758" "52" "c.4758+52G>T" "r.(=)" "p.(=)" "29i" "" "" "0000178028" "00024115" "10" "4870" "-71" "4870" "-71" "c.4870-71A>C" "r.(?)" "p.(=)" "30i" "" "" "0000178029" "00024115" "10" "4870" "-71" "4870" "-71" "c.4870-71A>C" "r.(?)" "p.(=)" "30i" "" "" "0000178030" "00024115" "10" "4870" "-71" "4870" "-71" "c.4870-71A>C" "r.(?)" "p.(=)" "30i" "" "" "0000178031" "00024115" "10" "4953" "96" "4953" "96" "c.4953+96A>C" "r.(?)" "p.(=)" "31i" "" "" "0000178034" "00024115" "10" "5070" "20" "5070" "20" "c.5070+20G>A" "r.(?)" "p.(=)" "32i" "" "" "0000178036" "00024115" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "33" "" "" "0000178036" "00025282" "90" "0" "0" "0" "0" "c?" "r.?" "p.?" "" "" "" "0000178040" "00024115" "55" "5136" "39" "5136" "39" "c.5136+39G>A" "r.(?)" "p.(=)" "33i" "" "" "0000178041" "00024115" "10" "5252" "78" "5252" "78" "c.5252+78G>T" "r.(=)" "p.(=)" "34i" "" "" "0000178042" "00024115" "10" "5253" "-101" "5253" "-101" "c.5253-101C>T" "r.(=)" "p.(=)" "34i" "" "" "0000178043" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(?)" "p.(=)" "35i" "" "" "0000178044" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(?)" "p.(=)" "35i" "" "" "0000178045" "00024115" "55" "5404" "-13" "5404" "-13" "c.5404-13G>A" "r.(?)" "p.(=)" "35i" "" "" "0000178046" "00024115" "10" "612" "0" "612" "0" "c.612G>A" "r.(?)" "p.Lys204Lys" "4" "" "" "0000178047" "00024115" "10" "5404" "-35" "5404" "-35" "c.5404-35C>T" "r.(=)" "p.(=)" "35i" "" "" "0000178048" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(=)" "p.(=)" "35i" "" "" "0000178050" "00024115" "10" "5532" "-64" "5532" "-64" "c.5532-64C>T" "r.(=)" "p.(=)" "36i" "" "" "0000178051" "00024115" "90" "0" "0" "0" "0" "c?" "r.?" "p.?" "38" "" "" "0000178051" "00025282" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000178052" "00024115" "10" "5734" "49" "5734" "49" "c.5734+49C>T" "r.(?)" "p.(=)" "38i" "" "" "0000178053" "00024115" "10" "5734" "49" "5734" "49" "c.5734+49C>T" "r.(=)" "p.(=)" "38i" "" "" "0000178054" "00024115" "10" "5735" "-75" "5735" "-75" "c.5735-75A>G" "r.(=)" "p.(=)" "38i" "" "" "0000178055" "00024115" "10" "5745" "0" "5745" "0" "c.5745C>T" "r.(?)" "p.(=)" "39i" "" "" "0000178056" "00024115" "10" "5843" "-82" "5843" "-82" "c.5843-82C>G" "r.(?)" "p.(=)" "39i" "" "" "0000178058" "00024115" "10" "6192" "74" "6192" "74" "c.6192+74A>C" "r.(=)" "p.(=)" "42i" "" "" "0000178059" "00024115" "10" "6192" "74" "6192" "74" "c.6192+74A>C" "r.(=)" "p.(=)" "42i" "" "" "0000178060" "00024115" "10" "6306" "69" "6306" "69" "c.6306+69A>C" "r.(=)" "p.(=)" "43i" "" "" "0000178061" "00024115" "10" "6306" "94" "6306" "94" "c.6306+94dup" "r.(=)" "p.(=)" "43i" "" "" "0000178062" "00024115" "10" "6529" "124" "6529" "124" "c.6529+124G>C" "r.(=)" "p.(=)" "45i" "" "" "0000178063" "00024115" "10" "6529" "137" "6529" "137" "c.6529+137A>G" "r.(=)" "p.(=)" "45i" "" "" "0000178064" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(=)" "46" "" "" "0000178065" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(=)" "46" "" "" "0000178066" "00024115" "10" "0" "0" "0" "0" "c.?" "r.?" "p.?" "46" "" "" "0000178066" "00025282" "10" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000178067" "00024115" "10" "6784" "-60" "6784" "-60" "c.6784-60G>A" "r.(?)" "p.(=)" "46i" "" "" "0000178068" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" "6" "" "" "0000178069" "00024115" "10" "6835" "0" "6835" "0" "c.*49G>A" "r.(=)" "p.(=)" "47" "" "" "0000178070" "00024115" "10" "0" "0" "0" "0" "c.?" "r.?" "p.?" "47" "" "" "0000178070" "00025282" "10" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000178071" "00024115" "10" "6968" "0" "6973" "0" "c.*182_*187del" "r.(?)" "p.(=)" "47" "CAG[11]" "" "0000178071" "00025282" "10" "6988" "0" "6993" "0" "c.6988_6993del" "r.(?)" "p.(Gln2330_Gln2331del)" "" "CAG[11]" "" "0000178072" "00024115" "10" "6971" "0" "6973" "0" "c.*185_*187del" "r.(?)" "p.(=)" "47" "CAG[12]" "" "0000178072" "00025282" "10" "6991" "0" "6993" "0" "c.6991_6993del" "r.(?)" "p.(Gln2331del)" "48" "CAG[12]" "" "0000178073" "00024115" "10" "7330" "0" "7330" "0" "c.*544C>T" "r.(?)" "p.(=)" "47" "" "" "0000178074" "00024115" "55" "8153" "0" "8155" "0" "c.*1367_*1369del" "r.(?)" "p.(=)" "47" "" "" "0000178074" "00025282" "50" "8173" "0" "8175" "0" "c.*634_*636del" "r.(?)" "p.(=)" "" "" "" "0000178075" "00024115" "55" "8153" "0" "8155" "0" "c.*1367_*1369del" "r.(?)" "p.(=)" "47" "" "" "0000178075" "00025282" "50" "8173" "0" "8175" "0" "c.*634_*636del" "r.(?)" "p.(=)" "" "" "" "0000178076" "00024115" "55" "8153" "0" "8155" "0" "c.*1367_*1369del" "r.(?)" "p.(=)" "47" "" "" "0000178076" "00025282" "50" "8173" "0" "8175" "0" "c.*634_*636del" "r.(?)" "p.(=)" "" "" "" "0000178077" "00024115" "55" "8154" "0" "8155" "0" "c.*1368_*1369del" "r.(?)" "p.(=)" "47" "" "" "0000178077" "00025282" "50" "8174" "0" "8175" "0" "c.*635_*636del" "r.(?)" "p.(=)" "" "" "" "0000178078" "00024115" "10" "7426" "0" "7426" "0" "c.*640C>T" "r.(?)" "p.(=)" "47" "" "" "0000178079" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" "6" "" "" "0000178080" "00024115" "10" "7639" "0" "7639" "0" "c.*853A>T" "r.(?)" "p.(=)" "47" "" "" "0000178081" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" "6" "" "" "0000178082" "00024115" "10" "978" "104" "978" "104" "c.978+104G>A" "r.(?)" "p.(=)" "6i" "" "" "0000178083" "00024115" "10" "-69" "0" "-69" "0" "c.-69C>T" "r.(?)" "p.(=)" "1" "" "" "0000178084" "00024115" "10" "1083" "-100" "1083" "-100" "c.1083-100A>C" "r.(?)" "p.(=)" "7i" "" "" "0000178085" "00024115" "10" "1083" "-96" "1083" "-96" "c.1083-96C>A" "r.(?)" "p.(=)" "7i" "" "" "0000178086" "00024115" "10" "1083" "-94" "1083" "-94" "c.1083-94C>A" "r.(?)" "p.(=)" "7i" "" "" "0000178087" "00024115" "10" "1083" "-88" "1083" "-88" "c.1083-88A>C" "r.(?)" "p.(=)" "7i" "" "" "0000178088" "00024115" "10" "1083" "-68" "1083" "-68" "c.1083-68 C>A" "r.(?)" "p.(=)" "7i" "" "" "0000178089" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(=)" "p.(=)" "8" "" "" "0000178090" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(=)" "8" "" "" "0000178091" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(=)" "8" "" "" "0000178092" "00024115" "10" "1198" "48" "1198" "48" "c.1198+48G>A" "r.(=)" "p.(=)" "8i" "" "" "0000178093" "00024115" "10" "1198" "48" "1198" "48" "c.1198+48G>A" "r.(?)" "p.(=)" "8i" "" "" "0000178094" "00024115" "10" "-55" "0" "-53" "0" "c.-55_-53dup" "r.(?)" "p.(=)" "1" "" "" "0000178095" "00024115" "10" "1198" "48" "1198" "48" "c.1198+48G>A" "r.(?)" "p.(=)" "8i" "" "" "0000178096" "00024115" "10" "1199" "-31" "1199" "-31" "c.1199-31A>G" "r.(?)" "p.(=)" "8i" "" "" "0000178097" "00024115" "10" "1199" "-31" "1199" "-31" "c.1199-31A>G" "r.(?)" "p.(=)" "8i" "" "" "0000178098" "00024115" "10" "1199" "-31" "1199" "-31" "c.1199-31G>A" "r.(?)" "p.(=)" "9" "" "" "0000178099" "00024115" "10" "1255" "71" "1255" "71" "c.1255+71G>A" "r.(?)" "p.(=)" "9i" "" "" "0000178100" "00024115" "55" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(?)" "p.(=)" "10i" "" "" "0000178101" "00024115" "55" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(?)" "p.(=)" "10i" "" "" "0000178102" "00024115" "10" "1348" "72" "1348" "72" "c.1348+72dup" "r.(=)" "p.(=)" "10i" "" "" "0000178103" "00024115" "10" "1348" "76" "1348" "76" "c.1348+76G>A" "r.(?)" "p.(=)" "10i" "" "" "0000178104" "00024115" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "11" "" "" "0000178105" "00024115" "10" "293" "53" "293" "53" "c.293+53G>A" "r.(?)" "p.(=)" "1i" "" "" "0000178106" "00024115" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "11" "" "" "0000178107" "00024115" "55" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(=)" "11" "" "" "0000178108" "00024115" "55" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(=)" "11" "" "" "0000178109" "00024115" "55" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(=)" "11" "" "" "0000178110" "00024115" "55" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(=)" "11" "" "" "0000178111" "00024115" "10" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(=)" "11" "" "" "0000178112" "00024115" "55" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(=)" "12" "" "" "0000178113" "00024115" "55" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(=)" "12" "" "" "0000178114" "00024115" "55" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(=)" "12" "" "" "0000178115" "00024115" "55" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(=)" "12" "" "" "0000178116" "00024115" "10" "293" "53" "293" "53" "c.293+53G>A" "r.(?)" "p.(=)" "1i" "" "" "0000178117" "00024115" "55" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(=)" "12" "" "" "0000178118" "00024115" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(=)" "13" "" "" "0000178120" "00024115" "90" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Val581Leu)" "13" "" "" "0000178121" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(=)" "13" "" "" "0000178122" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(=)" "13" "" "" "0000178123" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(=)" "13" "" "" "0000178125" "00024115" "10" "1917" "-39" "1917" "-39" "c.1917-39G>A" "r.(?)" "p.(=)" "14i" "" "" "0000178126" "00024115" "10" "1917" "-39" "1917" "-39" "c.1917-39G>A" "r.(?)" "p.(=)" "14i" "" "" "0000178127" "00024115" "10" "293" "53" "293" "53" "c.293+53G>A" "r.(?)" "p.(=)" "1i" "" "" "0000178128" "00024115" "10" "1917" "-39" "1917" "-39" "c.1917-39G>A" "r.(?)" "p.(=)" "14i" "" "" "0000178129" "00024115" "10" "1989" "36" "1989" "36" "c.1989+36C>G" "r.(?)" "p.(=)" "15i" "" "" "0000178131" "00024115" "10" "2088" "0" "2088" "0" "c.2088A>G" "r.(?)" "p.(=)" "16" "" "" "0000178132" "00024115" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(=)" "16" "" "" "0000178133" "00024115" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(=)" "16" "" "" "0000178134" "00024115" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(=)" "16" "" "" "0000178135" "00024115" "55" "2107" "27" "2107" "27" "c.2107+27G>A" "r.(?)" "p.(=)" "16i" "" "" "0000178137" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(?)" "p.(=)" "17i" "" "" "0000178138" "00024115" "10" "400" "-28" "400" "-28" "c.400-28C>T" "r.(?)" "p.(=)" "2i" "" "" "0000178139" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(?)" "p.(=)" "17i" "" "" "0000178141" "00024115" "10" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.Glu732Ala" "18" "" "" "0000178142" "00024115" "10" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.Glu732Ala" "18" "" "" "0000178143" "00024115" "10" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "18" "" "" "0000178145" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(=)" "19" "" "" "0000178146" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(=)" "19" "" "" "0000178147" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(=)" "19" "" "" "0000178148" "00024115" "90" "2816" "0" "2816" "0" "c.2816del" "r.(?)" "p.(Gly939AlafsTer131)" "19" "" "" "0000178149" "00024115" "10" "400" "-28" "400" "-28" "c.400-28C>T" "r.(?)" "p.(=)" "3" "" "" "0000178150" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "19" "" "" "0000178151" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "19" "" "" "0000178152" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "19" "" "" "0000178153" "00024115" "10" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "19" "" "" "0000178154" "00024115" "10" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "19" "" "" "0000178155" "00024115" "10" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "19" "" "" "0000178156" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(=)" "19" "" "" "0000178157" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(=)" "19" "" "" "0000178158" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(=)" "19" "" "" "0000178159" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "20" "" "" "0000178161" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "20" "" "" "0000178162" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "20" "" "" "0000178163" "00024115" "10" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(=)" "20" "" "" "0000178164" "00024115" "10" "3492" "0" "3492" "0" "c.3492C>T" "r.(?)" "p.(=)" "20" "" "" "0000178165" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(=)" "20" "" "" "0000178166" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(=)" "20" "" "" "0000178167" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(=)" "20" "" "" "0000178168" "00024115" "10" "3622" "0" "3622" "0" "c.3622G>A" "r.(?)" "p.(Aps1208Asn)" "20" "" "" "0000178169" "00024115" "55" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "21" "" "" "0000178169" "00025282" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "" "" "0000178170" "00024115" "30" "3826" "-28" "3826" "-28" "c.3826-28A>G" "r.(?)" "p.(=)" "22i" "" "" "0000242730" "00024115" "10" "6909" "0" "6999" "0" "c.(*123_*213)insN[51]" "r.(?)" "p.(=)" "47" "CAG[30]" "" "0000242730" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[51]" "r.(?)" "p.(Gln2319[30])" "48" "CAG[30]" "" "0000242731" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(=)" "p.(=)" "47" "CAG[23]" "" "0000242731" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000242732" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[51]" "r.(?)" "p.(=)" "47" "CAG[30]" "" "0000242732" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[30])" "48" "CAG[30]" "" "0000247855" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(His2220=)" "" "" "" "0000247855" "00025282" "10" "6675" "0" "6675" "0" "c.6675T>C" "r.(?)" "p.(His2225=)" "" "" "" "0000249635" "00024115" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Phe350LeufsTer3)" "" "" "" "0000249635" "00025282" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Phe350LeufsTer3)" "" "" "" "0000250637" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(His2220=)" "" "" "" "0000250637" "00025282" "10" "6675" "0" "6675" "0" "c.6675T>C" "r.(?)" "p.(His2225=)" "" "" "" "0000250812" "00024115" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Val507=)" "" "" "" "0000250812" "00025282" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Val507=)" "" "" "" "0000251049" "00024115" "10" "4875" "0" "4875" "0" "c.4875T>C" "r.(?)" "p.(Tyr1625=)" "" "" "" "0000251049" "00025282" "10" "4884" "0" "4884" "0" "c.4884T>C" "r.(?)" "p.(Tyr1628=)" "" "" "" "0000251632" "00024115" "10" "6784" "-34" "6784" "-34" "c.6784-34del" "r.(=)" "p.(=)" "" "" "" "0000251632" "00025282" "10" "6799" "-29" "6799" "-29" "c.6799-29del" "r.(=)" "p.(=)" "" "" "" "0000251633" "00024115" "10" "4092" "137" "4092" "137" "c.4092+137T>A" "r.(=)" "p.(=)" "" "" "" "0000251633" "00025282" "10" "4101" "137" "4101" "137" "c.4101+137T>A" "r.(=)" "p.(=)" "" "" "" "0000251634" "00024115" "10" "3885" "45" "3885" "45" "c.3885+45del" "r.(=)" "p.(=)" "" "" "" "0000251634" "00025282" "10" "3894" "45" "3894" "45" "c.3894+45del" "r.(=)" "p.(=)" "" "" "" "0000252314" "00024115" "30" "5531" "146" "5531" "146" "c.5531+146T>C" "r.(=)" "p.(=)" "" "" "" "0000252314" "00025282" "30" "5546" "146" "5546" "146" "c.5546+146T>C" "r.(=)" "p.(=)" "" "" "" "0000252315" "00024115" "30" "1256" "-191" "1256" "-191" "c.1256-191T>A" "r.(=)" "p.(=)" "" "" "" "0000252315" "00025282" "30" "1256" "-191" "1256" "-191" "c.1256-191T>A" "r.(=)" "p.(=)" "" "" "" "0000252316" "00024115" "30" "1255" "132" "1255" "132" "c.1255+132T>C" "r.(=)" "p.(=)" "" "" "" "0000252316" "00025282" "30" "1255" "132" "1255" "132" "c.1255+132T>C" "r.(=)" "p.(=)" "" "" "" "0000252317" "00024115" "30" "632" "-51" "632" "-51" "c.632-51T>G" "r.(=)" "p.(=)" "" "" "" "0000252317" "00025282" "30" "632" "-51" "632" "-51" "c.632-51T>G" "r.(=)" "p.(=)" "" "" "" "0000252989" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(His2220=)" "" "" "" "0000252989" "00025282" "10" "6675" "0" "6675" "0" "c.6675T>C" "r.(?)" "p.(His2225=)" "" "" "" "0000253494" "00024115" "10" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(Phe1288=)" "" "" "" "0000253494" "00025282" "10" "3873" "0" "3873" "0" "c.3873T>C" "r.(?)" "p.(Phe1291=)" "" "" "" "0000254031" "00024115" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Val507=)" "" "" "" "0000254031" "00025282" "30" "1521" "0" "1521" "0" "c.1521T>C" "r.(?)" "p.(Val507=)" "" "" "" "0000255161" "00024115" "30" "7424" "0" "7424" "0" "c.*638T>C" "r.(=)" "p.(=)" "" "" "" "0000255161" "00025282" "30" "7444" "0" "7444" "0" "c.7444T>C" "r.(?)" "p.(Tyr2482His)" "" "" "" "0000255324" "00024115" "30" "5735" "-6" "5735" "-6" "c.5735-6T>C" "r.(=)" "p.(=)" "" "" "" "0000255324" "00025282" "30" "5750" "-6" "5750" "-6" "c.5750-6T>C" "r.(=)" "p.(=)" "" "" "" "0000256589" "00024115" "50" "5654" "0" "5654" "0" "c.5654T>A" "r.(?)" "p.(Val1885Asp)" "" "" "" "0000256589" "00025282" "50" "5669" "0" "5669" "0" "c.5669T>A" "r.(?)" "p.(Val1890Asp)" "" "" "" "0000266387" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000266387" "00025282" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000266388" "00024115" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000266388" "00025282" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000266389" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(=)" "p.(=)" "" "" "" "0000266389" "00025282" "10" "2185" "-12" "2185" "-12" "c.2185-12C>T" "r.(=)" "p.(=)" "" "" "" "0000266390" "00024115" "50" "2348" "0" "2348" "0" "c.2348G>C" "r.(?)" "p.(Arg783Pro)" "" "" "" "0000266390" "00025282" "50" "2357" "0" "2357" "0" "c.2357G>C" "r.(?)" "p.(Arg786Pro)" "" "" "" "0000266391" "00024115" "50" "2985" "0" "2990" "0" "c.2985_2990dup" "r.(?)" "p.(Gly996_Pro997dup)" "" "" "" "0000266391" "00025282" "50" "2994" "0" "2999" "0" "c.2994_2999dup" "r.(?)" "p.(Gly999_Pro1000dup)" "" "" "" "0000266392" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0000266392" "00025282" "10" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Gly1108Ser)" "" "" "" "0000266393" "00024115" "10" "6659" "0" "6661" "0" "c.6659_6661del" "r.(?)" "p.(His2220del)" "" "" "" "0000266393" "00025282" "10" "6674" "0" "6676" "0" "c.6674_6676del" "r.(?)" "p.(His2225del)" "" "" "" "0000266394" "00024115" "10" "6968" "0" "6973" "0" "c.*182_*187del" "r.(=)" "p.(=)" "" "" "" "0000266394" "00025282" "10" "6988" "0" "6993" "0" "c.6988_6993del" "r.(?)" "p.(Gln2330_Gln2331del)" "" "" "" "0000266395" "00024115" "10" "6971" "0" "6973" "0" "c.*185_*187del" "r.(=)" "p.(=)" "" "" "" "0000266395" "00025282" "10" "6991" "0" "6993" "0" "c.6991_6993del" "r.(?)" "p.(Gln2331del)" "" "" "" "0000266396" "00024115" "10" "6971" "0" "6973" "0" "c.*185_*187dup" "r.(=)" "p.(=)" "" "" "" "0000266396" "00025282" "10" "6991" "0" "6993" "0" "c.6991_6993dup" "r.(?)" "p.(Gln2331dup)" "" "" "" "0000266397" "00024115" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(His253Tyr)" "" "" "" "0000266397" "00025282" "70" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(His253Tyr)" "" "" "" "0000266398" "00024115" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0000266398" "00025282" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0000266399" "00024115" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Thr280Ala)" "" "" "" "0000266399" "00025282" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Thr280Ala)" "" "" "" "0000268036" "00024115" "70" "4118" "0" "4118" "0" "c.4118C>T" "r.(?)" "p.(Ser1373Leu)" "" "" "" "0000268036" "00025282" "70" "4127" "0" "4127" "0" "c.4127C>T" "r.(?)" "p.(Ser1376Leu)" "" "" "" "0000268037" "00024115" "70" "4900" "0" "4900" "0" "c.4900G>A" "r.(?)" "p.(Asp1634Asn)" "" "" "" "0000268037" "00025282" "70" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Asp1637Asn)" "" "" "" "0000269480" "00024115" "30" "6808" "0" "6808" "0" "c.*22C>T" "r.(=)" "p.(=)" "" "" "" "0000269480" "00025282" "30" "6828" "0" "6828" "0" "c.6828C>T" "r.(?)" "p.(Ala2276=)" "" "" "" "0000269481" "00024115" "30" "7585" "0" "7585" "0" "c.*799C>T" "r.(=)" "p.(=)" "" "" "" "0000269481" "00025282" "30" "7605" "0" "7605" "0" "c.*66C>T" "r.(=)" "p.(=)" "" "" "" "0000269482" "00024115" "30" "1082" "186" "1082" "186" "c.1082+186C>A" "r.(=)" "p.(=)" "" "" "" "0000269482" "00025282" "30" "1082" "186" "1082" "186" "c.1082+186C>A" "r.(=)" "p.(=)" "" "" "" "0000269483" "00024115" "30" "1083" "-104" "1083" "-104" "c.1083-104C>A" "r.(=)" "p.(=)" "" "" "" "0000269483" "00025282" "30" "1083" "-104" "1083" "-104" "c.1083-104C>A" "r.(=)" "p.(=)" "" "" "" "0000269484" "00024115" "30" "1083" "-68" "1083" "-67" "c.1083-68_1083-67del" "r.(=)" "p.(=)" "" "" "" "0000269484" "00025282" "30" "1083" "-68" "1083" "-67" "c.1083-68_1083-67del" "r.(=)" "p.(=)" "" "" "" "0000269485" "00024115" "10" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000269485" "00025282" "10" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000269486" "00024115" "30" "1558" "24" "1558" "24" "c.1558+24C>T" "r.(=)" "p.(=)" "" "" "" "0000269486" "00025282" "30" "1558" "24" "1558" "24" "c.1558+24C>T" "r.(=)" "p.(=)" "" "" "" "0000269487" "00024115" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000269487" "00025282" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000269488" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000269488" "00025282" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000269489" "00024115" "30" "1784" "72" "1784" "72" "c.1784+72A>G" "r.(=)" "p.(=)" "" "" "" "0000269489" "00025282" "30" "1784" "72" "1784" "72" "c.1784+72A>G" "r.(=)" "p.(=)" "" "" "" "0000269490" "00024115" "30" "1989" "16" "1989" "16" "c.1989+16G>T" "r.(=)" "p.(=)" "" "" "" "0000269490" "00025282" "30" "1989" "16" "1989" "16" "c.1989+16G>T" "r.(=)" "p.(=)" "" "" "" "0000269491" "00024115" "10" "2107" "27" "2107" "27" "c.2107+27G>A" "r.(=)" "p.(=)" "" "" "" "0000269491" "00025282" "10" "2107" "27" "2107" "27" "c.2107+27G>A" "r.(=)" "p.(=)" "" "" "" "0000269492" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(=)" "p.(=)" "" "" "" "0000269492" "00025282" "10" "2185" "-12" "2185" "-12" "c.2185-12C>T" "r.(=)" "p.(=)" "" "" "" "0000269493" "00024115" "30" "2176" "-62" "2176" "-62" "c.2176-62C>G" "r.(=)" "p.(=)" "" "" "" "0000269493" "00025282" "30" "2185" "-62" "2185" "-62" "c.2185-62C>G" "r.(=)" "p.(=)" "" "" "" "0000269494" "00024115" "30" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "" "" "" "0000269494" "00025282" "30" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "" "" "0000269495" "00024115" "10" "2282" "232" "2282" "232" "c.2282+232del" "r.(=)" "p.(=)" "" "" "" "0000269495" "00025282" "10" "2291" "232" "2291" "232" "c.2291+232del" "r.(=)" "p.(=)" "" "" "" "0000269496" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(Glu918Asp)" "" "" "" "0000269496" "00025282" "10" "2763" "0" "2763" "0" "c.2763G>C" "r.(?)" "p.(Glu921Asp)" "" "" "" "0000269497" "00024115" "10" "293" "19238" "293" "19239" "c.293+19238_293+19239del" "r.(=)" "p.(=)" "" "" "" "0000269497" "00025282" "10" "293" "19238" "293" "19239" "c.293+19238_293+19239del" "r.(=)" "p.(=)" "" "" "" "0000269498" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "" "" "" "0000269498" "00025282" "10" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Glu996Val)" "" "" "" "0000269499" "00024115" "30" "3031" "0" "3031" "0" "c.3031C>G" "r.(?)" "p.(Pro1011Ala)" "" "" "" "0000269499" "00025282" "30" "3040" "0" "3040" "0" "c.3040C>G" "r.(?)" "p.(Pro1014Ala)" "" "" "" "0000269500" "00024115" "10" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "" "" "0000269500" "00025282" "10" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Glu1018Lys)" "" "" "" "0000269501" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Arg1020=)" "" "" "" "0000269501" "00025282" "10" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Arg1023=)" "" "" "" "0000269502" "00024115" "10" "3240" "0" "3240" "0" "c.3240C>T" "r.(?)" "p.(Ala1080=)" "" "" "" "0000269502" "00025282" "10" "3249" "0" "3249" "0" "c.3249C>T" "r.(?)" "p.(Ala1083=)" "" "" "" "0000269503" "00024115" "30" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Asp1103Asn)" "" "" "" "0000269503" "00025282" "30" "3316" "0" "3316" "0" "c.3316G>A" "r.(?)" "p.(Asp1106Asn)" "" "" "" "0000269504" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0000269504" "00025282" "10" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Gly1108Ser)" "" "" "" "0000269505" "00024115" "50" "3371" "0" "3371" "0" "c.3371G>A" "r.(?)" "p.(Arg1124Gln)" "" "" "" "0000269505" "00025282" "50" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Arg1127Gln)" "" "" "" "0000269506" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Val1183=)" "" "" "" "0000269506" "00025282" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Val1186=)" "" "" "" "0000269507" "00024115" "30" "3621" "0" "3621" "0" "c.3621A>G" "r.(?)" "p.(Glu1207=)" "" "" "" "0000269507" "00025282" "30" "3630" "0" "3630" "0" "c.3630A>G" "r.(?)" "p.(Glu1210=)" "" "" "" "0000269508" "00024115" "10" "3826" "-28" "3826" "-28" "c.3826-28A>G" "r.(=)" "p.(=)" "" "" "" "0000269508" "00025282" "10" "3835" "-28" "3835" "-28" "c.3835-28A>G" "r.(=)" "p.(=)" "" "" "" "0000269509" "00024115" "30" "399" "99" "399" "99" "c.399+99A>G" "r.(=)" "p.(=)" "" "" "" "0000269509" "00025282" "30" "399" "99" "399" "99" "c.399+99A>G" "r.(=)" "p.(=)" "" "" "" "0000269510" "00024115" "10" "400" "-28" "400" "-28" "c.400-28C>T" "r.(=)" "p.(=)" "" "" "" "0000269510" "00025282" "10" "400" "-28" "400" "-28" "c.400-28C>T" "r.(=)" "p.(=)" "" "" "" "0000269511" "00024115" "30" "3992" "13" "3992" "13" "c.3992+13G>T" "r.(=)" "p.(=)" "" "" "" "0000269511" "00025282" "30" "4001" "13" "4001" "13" "c.4001+13G>T" "r.(=)" "p.(=)" "" "" "" "0000269512" "00024115" "10" "3992" "206" "3992" "206" "c.3992+206del" "r.(=)" "p.(=)" "" "" "" "0000269512" "00025282" "10" "4001" "206" "4001" "206" "c.4001+206del" "r.(=)" "p.(=)" "" "" "" "0000269513" "00024115" "30" "3993" "-4" "3993" "-4" "c.3993-4A>G" "r.spl?" "p.?" "" "" "" "0000269513" "00025282" "30" "4002" "-4" "4002" "-4" "c.4002-4A>G" "r.spl?" "p.?" "" "" "" "0000269514" "00024115" "10" "3993" "-96" "3993" "-96" "c.3993-96G>A" "r.(=)" "p.(=)" "" "" "" "0000269514" "00025282" "10" "4002" "-96" "4002" "-96" "c.4002-96G>A" "r.(=)" "p.(=)" "" "" "" "0000269515" "00024115" "90" "4252" "0" "4252" "0" "c.4252C>T" "r.(?)" "p.(Arg1418Ter)" "" "" "" "0000269515" "00025282" "90" "4261" "0" "4261" "0" "c.4261C>T" "r.(?)" "p.(Arg1421Ter)" "" "" "" "0000269516" "00024115" "30" "4254" "-14" "4254" "-14" "c.4254-14A>G" "r.(=)" "p.(=)" "" "" "" "0000269516" "00025282" "30" "4263" "-14" "4263" "-14" "c.4263-14A>G" "r.(=)" "p.(=)" "" "" "" "0000269517" "00024115" "30" "4299" "0" "4299" "0" "c.4299C>T" "r.(?)" "p.(Asp1433=)" "" "" "" "0000269517" "00025282" "30" "4308" "0" "4308" "0" "c.4308C>T" "r.(?)" "p.(Asp1436=)" "" "" "" "0000269518" "00024115" "30" "4314" "0" "4314" "0" "c.4314G>A" "r.(?)" "p.(Lys1438=)" "" "" "" "0000269518" "00025282" "30" "4323" "0" "4323" "0" "c.4323G>A" "r.(?)" "p.(Lys1441=)" "" "" "" "0000269519" "00024115" "30" "4329" "0" "4329" "0" "c.4329C>T" "r.(?)" "p.(Tyr1443=)" "" "" "" "0000269519" "00025282" "30" "4338" "0" "4338" "0" "c.4338C>T" "r.(?)" "p.(Tyr1446=)" "" "" "" "0000269520" "00024115" "30" "4391" "11" "4391" "11" "c.4391+11C>T" "r.(=)" "p.(=)" "" "" "" "0000269520" "00025282" "30" "4400" "11" "4400" "11" "c.4400+11C>T" "r.(=)" "p.(=)" "" "" "" "0000269521" "00024115" "30" "4593" "68" "4593" "68" "c.4593+68C>T" "r.(=)" "p.(=)" "" "" "" "0000269521" "00025282" "30" "4602" "68" "4602" "68" "c.4602+68C>T" "r.(=)" "p.(=)" "" "" "" "0000269522" "00024115" "30" "4620" "0" "4620" "0" "c.4620C>T" "r.(?)" "p.(Ser1540=)" "" "" "" "0000269522" "00025282" "30" "4629" "0" "4629" "0" "c.4629C>T" "r.(?)" "p.(Ser1543=)" "" "" "" "0000269523" "00024115" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Thr1545=)" "" "" "" "0000269523" "00025282" "30" "4644" "0" "4644" "0" "c.4644C>T" "r.(?)" "p.(Thr1548=)" "" "" "" "0000269524" "00024115" "30" "4758" "52" "4758" "52" "c.4758+52G>T" "r.(=)" "p.(=)" "" "" "" "0000269524" "00025282" "30" "4767" "52" "4767" "52" "c.4767+52G>T" "r.(=)" "p.(=)" "" "" "" "0000269525" "00024115" "30" "4954" "-733" "4954" "-733" "c.4954-733C>T" "r.(=)" "p.(=)" "" "" "" "0000269525" "00025282" "30" "4969" "-733" "4969" "-733" "c.4969-733C>T" "r.(=)" "p.(=)" "" "" "" "0000269526" "00024115" "90" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Arg1661His)" "" "" "" "0000269526" "00025282" "90" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666His)" "" "" "" "0000269527" "00024115" "30" "5070" "20" "5070" "20" "c.5070+20G>A" "r.(=)" "p.(=)" "" "" "" "0000269527" "00025282" "30" "5085" "20" "5085" "20" "c.5085+20G>A" "r.(=)" "p.(=)" "" "" "" "0000269528" "00024115" "30" "5136" "57" "5136" "57" "c.5136+57G>A" "r.(=)" "p.(=)" "" "" "" "0000269528" "00025282" "30" "5151" "57" "5151" "57" "c.5151+57G>A" "r.(=)" "p.(=)" "" "" "" "0000269529" "00024115" "30" "5253" "-101" "5253" "-101" "c.5253-101C>T" "r.(=)" "p.(=)" "" "" "" "0000269529" "00025282" "30" "5268" "-101" "5268" "-101" "c.5268-101C>T" "r.(=)" "p.(=)" "" "" "" "0000269530" "00024115" "30" "539" "152" "539" "152" "c.539+152C>A" "r.(=)" "p.(=)" "" "" "" "0000269530" "00025282" "30" "539" "152" "539" "152" "c.539+152C>A" "r.(=)" "p.(=)" "" "" "" "0000269531" "00024115" "30" "5404" "-35" "5404" "-35" "c.5404-35C>T" "r.(=)" "p.(=)" "" "" "" "0000269531" "00025282" "30" "5419" "-35" "5419" "-35" "c.5419-35C>T" "r.(=)" "p.(=)" "" "" "" "0000269532" "00024115" "10" "5532" "-268" "5532" "-268" "c.5532-268del" "r.(=)" "p.(=)" "" "" "" "0000269532" "00025282" "10" "5546" "1019" "5546" "1019" "c.5546+1019del" "r.(=)" "p.(=)" "" "" "" "0000269533" "00024115" "30" "5532" "-140" "5532" "-140" "c.5532-140G>T" "r.(=)" "p.(=)" "" "" "" "0000269533" "00025282" "30" "5546" "1147" "5546" "1147" "c.5546+1147G>T" "r.(=)" "p.(=)" "" "" "" "0000269534" "00024115" "30" "5628" "90" "5628" "95" "c.5628+90_5628+95del" "r.(=)" "p.(=)" "" "" "" "0000269534" "00025282" "30" "5547" "-1082" "5547" "-1077" "c.5547-1082_5547-1077del" "r.(=)" "p.(=)" "" "" "" "0000269535" "00024115" "30" "5628" "92" "5628" "95" "c.5628+92_5628+95del" "r.(=)" "p.(=)" "" "" "" "0000269535" "00025282" "30" "5547" "-1080" "5547" "-1077" "c.5547-1080_5547-1077del" "r.(=)" "p.(=)" "" "" "" "0000269536" "00024115" "30" "5628" "1121" "5628" "1121" "c.5628+1121G>A" "r.(=)" "p.(=)" "" "" "" "0000269536" "00025282" "30" "5547" "-51" "5547" "-51" "c.5547-51G>A" "r.(=)" "p.(=)" "" "" "" "0000269537" "00024115" "30" "5628" "1318" "5628" "1318" "c.5628+1318del" "r.(=)" "p.(=)" "" "" "" "0000269537" "00025282" "30" "5643" "50" "5643" "50" "c.5643+50del" "r.(=)" "p.(=)" "" "" "" "0000269538" "00024115" "30" "5628" "1333" "5628" "1333" "c.5628+1333T>C" "r.(=)" "p.(=)" "" "" "" "0000269538" "00025282" "30" "5643" "65" "5643" "65" "c.5643+65T>C" "r.(=)" "p.(=)" "" "" "" "0000269539" "00024115" "30" "5735" "-75" "5735" "-75" "c.5735-75A>G" "r.(=)" "p.(=)" "" "" "" "0000269539" "00025282" "30" "5750" "-75" "5750" "-75" "c.5750-75A>G" "r.(=)" "p.(=)" "" "" "" "0000269540" "00024115" "30" "5742" "0" "5742" "0" "c.5742C>T" "r.(?)" "p.(Ala1914=)" "" "" "" "0000269540" "00025282" "30" "5757" "0" "5757" "0" "c.5757C>T" "r.(?)" "p.(Ala1919=)" "" "" "" "0000269541" "00024115" "10" "5843" "-82" "5843" "-82" "c.5843-82C>G" "r.(=)" "p.(=)" "" "" "" "0000269541" "00025282" "10" "5858" "-82" "5858" "-82" "c.5858-82C>G" "r.(=)" "p.(=)" "" "" "" "0000269542" "00024115" "10" "5943" "125" "5943" "125" "c.5943+125G>C" "r.(=)" "p.(=)" "" "" "" "0000269542" "00025282" "10" "5958" "125" "5958" "125" "c.5958+125G>C" "r.(=)" "p.(=)" "" "" "" "0000269543" "00024115" "30" "5943" "40" "5943" "40" "c.5943+40C>T" "r.(=)" "p.(=)" "" "" "" "0000269543" "00025282" "30" "5958" "40" "5958" "40" "c.5958+40C>T" "r.(=)" "p.(=)" "" "" "" "0000269544" "00024115" "10" "6129" "0" "6129" "0" "c.6129G>A" "r.(?)" "p.(Thr2043=)" "" "" "" "0000269544" "00025282" "10" "6144" "0" "6144" "0" "c.6144G>A" "r.(?)" "p.(Thr2048=)" "" "" "" "0000269545" "00024115" "10" "6192" "74" "6192" "74" "c.6192+74A>C" "r.(=)" "p.(=)" "" "" "" "0000269545" "00025282" "10" "6207" "74" "6207" "74" "c.6207+74A>C" "r.(=)" "p.(=)" "" "" "" "0000269546" "00024115" "30" "6268" "0" "6268" "0" "c.6268C>A" "r.(?)" "p.(Arg2090=)" "" "" "" "0000269546" "00025282" "30" "6283" "0" "6283" "0" "c.6283C>A" "r.(?)" "p.(Arg2095=)" "" "" "" "0000269547" "00024115" "30" "6334" "0" "6334" "0" "c.6334A>G" "r.(?)" "p.(Asn2112Asp)" "" "" "" "0000269547" "00025282" "30" "6349" "0" "6349" "0" "c.6349A>G" "r.(?)" "p.(Asn2117Asp)" "" "" "" "0000269548" "00024115" "30" "6342" "10" "6342" "10" "c.6342+10G>A" "r.(=)" "p.(=)" "" "" "" "0000269548" "00025282" "30" "6357" "10" "6357" "10" "c.6357+10G>A" "r.(=)" "p.(=)" "" "" "" "0000269549" "00024115" "30" "6345" "0" "6345" "0" "c.6345C>G" "r.(?)" "p.(Thr2115=)" "" "" "" "0000269549" "00025282" "30" "6360" "0" "6360" "0" "c.6360C>G" "r.(?)" "p.(Thr2120=)" "" "" "" "0000269550" "00024115" "30" "6381" "0" "6381" "0" "c.6381C>T" "r.(?)" "p.(Ser2127=)" "" "" "" "0000269550" "00025282" "30" "6396" "0" "6396" "0" "c.6396C>T" "r.(?)" "p.(Ser2132=)" "" "" "" "0000269551" "00024115" "30" "6428" "0" "6428" "0" "c.6428G>A" "r.(?)" "p.(Arg2143Gln)" "" "" "" "0000269551" "00025282" "30" "6443" "0" "6443" "0" "c.6443G>A" "r.(?)" "p.(Arg2148Gln)" "" "" "" "0000269552" "00024115" "30" "6530" "-135" "6530" "-135" "c.6530-135C>T" "r.(=)" "p.(=)" "" "" "" "0000269552" "00025282" "30" "6545" "-135" "6545" "-135" "c.6545-135C>T" "r.(=)" "p.(=)" "" "" "" "0000269553" "00024115" "30" "6530" "-14" "6530" "-14" "c.6530-14C>T" "r.(=)" "p.(=)" "" "" "" "0000269553" "00025282" "30" "6545" "-14" "6545" "-14" "c.6545-14C>T" "r.(=)" "p.(=)" "" "" "" "0000269554" "00024115" "30" "6530" "-92" "6530" "-92" "c.6530-92C>T" "r.(=)" "p.(=)" "" "" "" "0000269554" "00025282" "30" "6545" "-92" "6545" "-92" "c.6545-92C>T" "r.(=)" "p.(=)" "" "" "" "0000269556" "00024115" "10" "6784" "-132" "6784" "-132" "c.6784-132C>T" "r.(=)" "p.(=)" "" "" "" "0000269556" "00025282" "10" "6799" "-127" "6799" "-127" "c.6799-127C>T" "r.(=)" "p.(=)" "" "" "" "0000269557" "00024115" "30" "6830" "0" "6830" "0" "c.*44A>G" "r.(=)" "p.(=)" "" "" "" "0000269557" "00025282" "30" "6850" "0" "6850" "0" "c.6850A>G" "r.(?)" "p.(Thr2284Ala)" "" "" "" "0000269558" "00024115" "10" "6835" "0" "6835" "0" "c.*49G>A" "r.(=)" "p.(=)" "" "" "" "0000269558" "00025282" "10" "6855" "0" "6855" "0" "c.6855G>A" "r.(?)" "p.(Pro2285=)" "" "" "" "0000269559" "00024115" "30" "6956" "0" "6973" "0" "c.*170_*187del" "r.(=)" "p.(=)" "" "" "" "0000269559" "00025282" "30" "6976" "0" "6993" "0" "c.6976_6993del" "r.(?)" "p.(Gln2326_Gln2331del)" "" "" "" "0000269560" "00024115" "30" "6971" "0" "6973" "0" "c.*185_*187del" "r.(=)" "p.(=)" "" "" "" "0000269560" "00025282" "30" "6991" "0" "6993" "0" "c.6991_6993del" "r.(?)" "p.(Gln2331del)" "" "" "" "0000269562" "00024115" "10" "6971" "0" "6976" "0" "c.*185_*190del" "r.(=)" "p.(=)" "" "" "" "0000269562" "00025282" "10" "6991" "0" "6996" "0" "c.6991_6996del" "r.(?)" "p.(Gln2331_Ala2332del)" "" "" "" "0000269563" "00024115" "30" "7429" "0" "7429" "0" "c.*643C>T" "r.(=)" "p.(=)" "" "" "" "0000269563" "00025282" "30" "7449" "0" "7449" "0" "c.7449C>T" "r.(?)" "p.(Tyr2483=)" "" "" "" "0000272398" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000272398" "00025282" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000272399" "00024115" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Ala405=)" "" "" "" "0000272399" "00025282" "30" "1215" "0" "1215" "0" "c.1215C>T" "r.(?)" "p.(Ala405=)" "" "" "" "0000272400" "00024115" "30" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000272400" "00025282" "30" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000272401" "00024115" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000272401" "00025282" "10" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000272402" "00024115" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000272402" "00025282" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000272403" "00024115" "30" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Gly542=)" "" "" "" "0000272403" "00025282" "30" "1626" "0" "1626" "0" "c.1626G>A" "r.(?)" "p.(Gly542=)" "" "" "" "0000272404" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000272404" "00025282" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000272405" "00024115" "10" "1784" "18" "1784" "18" "c.1784+18C>A" "r.(=)" "p.(=)" "" "" "" "0000272405" "00025282" "10" "1784" "18" "1784" "18" "c.1784+18C>A" "r.(=)" "p.(=)" "" "" "" "0000272406" "00024115" "10" "1785" "-20" "1785" "-20" "c.1785-20C>T" "r.(=)" "p.(=)" "" "" "" "0000272406" "00025282" "10" "1785" "-20" "1785" "-20" "c.1785-20C>T" "r.(=)" "p.(=)" "" "" "" "0000272407" "00024115" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Thr698=)" "" "" "" "0000272407" "00025282" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Thr698=)" "" "" "" "0000272408" "00024115" "10" "2133" "0" "2133" "0" "c.2133C>G" "r.(?)" "p.(Ala711=)" "" "" "" "0000272408" "00025282" "10" "2133" "0" "2133" "0" "c.2133C>G" "r.(?)" "p.(Ala711=)" "" "" "" "0000272409" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(=)" "p.(=)" "" "" "" "0000272409" "00025282" "10" "2185" "-12" "2185" "-12" "c.2185-12C>T" "r.(=)" "p.(=)" "" "" "" "0000272410" "00024115" "10" "2681" "0" "2681" "0" "c.2681G>A" "r.(?)" "p.(Arg894Gln)" "" "" "" "0000272410" "00025282" "10" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Arg897Gln)" "" "" "" "0000272411" "00024115" "50" "2690" "0" "2690" "0" "c.2690C>G" "r.(?)" "p.(Pro897Arg)" "" "" "" "0000272411" "00025282" "50" "2699" "0" "2699" "0" "c.2699C>G" "r.(?)" "p.(Pro900Arg)" "" "" "" "0000272412" "00024115" "10" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Pro914Ser)" "" "" "" "0000272412" "00025282" "10" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Pro917Ser)" "" "" "" "0000272413" "00024115" "10" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Pro914=)" "" "" "" "0000272413" "00025282" "10" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Pro917=)" "" "" "" "0000272414" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(Glu918Asp)" "" "" "" "0000272414" "00025282" "10" "2763" "0" "2763" "0" "c.2763G>C" "r.(?)" "p.(Glu921Asp)" "" "" "" "0000272415" "00024115" "10" "2829" "0" "2829" "0" "c.2829C>T" "r.(?)" "p.(Ser943=)" "" "" "" "0000272415" "00025282" "10" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Ser946=)" "" "" "" "0000272416" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "" "" "" "0000272416" "00025282" "10" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Glu996Val)" "" "" "" "0000272417" "00024115" "30" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "" "" "0000272417" "00025282" "30" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Glu1018Lys)" "" "" "" "0000272418" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Arg1020=)" "" "" "" "0000272418" "00025282" "10" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Arg1023=)" "" "" "" "0000272419" "00024115" "10" "3240" "0" "3240" "0" "c.3240C>T" "r.(?)" "p.(Ala1080=)" "" "" "" "0000272419" "00025282" "10" "3249" "0" "3249" "0" "c.3249C>T" "r.(?)" "p.(Ala1083=)" "" "" "" "0000272420" "00024115" "30" "3268" "0" "3268" "0" "c.3268G>T" "r.(?)" "p.(Gly1090Cys)" "" "" "" "0000272420" "00025282" "30" "3277" "0" "3277" "0" "c.3277G>T" "r.(?)" "p.(Gly1093Cys)" "" "" "" "0000272421" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0000272421" "00025282" "10" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Gly1108Ser)" "" "" "" "0000272422" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Val1183=)" "" "" "" "0000272422" "00025282" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Val1186=)" "" "" "" "0000272423" "00024115" "50" "3607" "0" "3609" "0" "c.3607_3609del" "r.(?)" "p.(Lys1203del)" "" "" "" "0000272423" "00025282" "50" "3616" "0" "3618" "0" "c.3616_3618del" "r.(?)" "p.(Lys1206del)" "" "" "" "0000272424" "00024115" "30" "4413" "0" "4413" "0" "c.4413C>T" "r.(?)" "p.(Asp1471=)" "" "" "" "0000272424" "00025282" "30" "4422" "0" "4422" "0" "c.4422C>T" "r.(?)" "p.(Asp1474=)" "" "" "" "0000272425" "00024115" "10" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Ala154=)" "" "" "" "0000272425" "00025282" "10" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Ala154=)" "" "" "" "0000272426" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(=)" "p.(=)" "" "" "" "0000272426" "00025282" "10" "5419" "-14" "5419" "-14" "c.5419-14C>T" "r.(=)" "p.(=)" "" "" "" "0000272427" "00024115" "30" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Thr187=)" "" "" "" "0000272427" "00025282" "30" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Thr187=)" "" "" "" "0000272430" "00024115" "10" "6129" "0" "6129" "0" "c.6129G>A" "r.(?)" "p.(Thr2043=)" "" "" "" "0000272430" "00025282" "10" "6144" "0" "6144" "0" "c.6144G>A" "r.(?)" "p.(Thr2048=)" "" "" "" "0000272432" "00024115" "10" "6350" "0" "6350" "0" "c.6350C>G" "r.(?)" "p.(Ser2117Ter)" "" "" "" "0000272432" "00025282" "10" "6365" "0" "6365" "0" "c.6365C>G" "r.(?)" "p.(Ser2122Ter)" "" "" "" "0000272435" "00024115" "10" "6840" "0" "6840" "0" "c.*54G>A" "r.(=)" "p.(=)" "" "" "" "0000272435" "00025282" "10" "6860" "0" "6860" "0" "c.6860G>A" "r.(?)" "p.(Arg2287Gln)" "" "" "" "0000272436" "00024115" "10" "6968" "0" "6973" "0" "c.*182_*187del" "r.(=)" "p.(=)" "" "" "" "0000272436" "00025282" "10" "6988" "0" "6993" "0" "c.6988_6993del" "r.(?)" "p.(Gln2330_Gln2331del)" "" "" "" "0000272438" "00024115" "10" "6971" "0" "6973" "0" "c.*185_*187del" "r.(=)" "p.(=)" "" "" "" "0000272438" "00025282" "10" "6991" "0" "6993" "0" "c.6991_6993del" "r.(?)" "p.(Gln2331del)" "" "" "" "0000272439" "00024115" "10" "6971" "0" "6973" "0" "c.*185_*187dup" "r.(=)" "p.(=)" "" "" "" "0000272439" "00025282" "10" "6991" "0" "6993" "0" "c.6991_6993dup" "r.(?)" "p.(Gln2331dup)" "" "" "" "0000272441" "00024115" "30" "7368" "0" "7368" "0" "c.*582C>A" "r.(=)" "p.(=)" "" "" "" "0000272441" "00025282" "30" "7388" "0" "7388" "0" "c.7388C>A" "r.(?)" "p.(Ala2463Asp)" "" "" "" "0000272442" "00024115" "30" "7438" "0" "7438" "0" "c.*652C>G" "r.(=)" "p.(=)" "" "" "" "0000272442" "00025282" "30" "7458" "0" "7458" "0" "c.7458C>G" "r.(?)" "p.(His2486Gln)" "" "" "" "0000272445" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000272445" "00025282" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000326238" "00024115" "50" "6971" "0" "6973" "0" "c.*185_*187del" "r.(=)" "p.(=)" "" "" "" "0000326238" "00025282" "50" "6991" "0" "6993" "0" "c.6991_6993del" "r.(?)" "p.(Gln2331del)" "" "" "" "0000326239" "00024115" "50" "6959" "0" "6973" "0" "c.*173_*187del" "r.(=)" "p.(=)" "" "" "" "0000326239" "00025282" "50" "6979" "0" "6993" "0" "c.6979_6993del" "r.(?)" "p.(Gln2327_Gln2331del)" "" "" "" "0000326240" "00024115" "30" "6956" "0" "6973" "0" "c.*170_*187del" "r.(=)" "p.(=)" "" "" "" "0000326240" "00025282" "30" "6976" "0" "6993" "0" "c.6976_6993del" "r.(?)" "p.(Gln2326_Gln2331del)" "" "" "" "0000326241" "00024115" "30" "6968" "0" "6973" "0" "c.*182_*187del" "r.(=)" "p.(=)" "" "" "" "0000326241" "00025282" "30" "6988" "0" "6993" "0" "c.6988_6993del" "r.(?)" "p.(Gln2330_Gln2331del)" "" "" "" "0000326245" "00024115" "50" "6784" "-4" "6784" "-4" "c.6784-4G>A" "r.spl?" "p.?" "" "" "" "0000326245" "00025282" "50" "6800" "0" "6800" "0" "c.6800G>A" "r.(?)" "p.(Gly2267Asp)" "" "" "" "0000326246" "00024115" "50" "6636" "0" "6636" "0" "c.6636C>G" "r.(?)" "p.(His2212Gln)" "" "" "" "0000326246" "00025282" "50" "6651" "0" "6651" "0" "c.6651C>G" "r.(?)" "p.(His2217Gln)" "" "" "" "0000326248" "00024115" "30" "3607" "0" "3609" "0" "c.3607_3609del" "r.(?)" "p.(Lys1203del)" "" "" "" "0000326248" "00025282" "30" "3616" "0" "3618" "0" "c.3616_3618del" "r.(?)" "p.(Lys1206del)" "" "" "" "0000326249" "00024115" "30" "3412" "0" "3412" "0" "c.3412C>G" "r.(?)" "p.(Pro1138Ala)" "" "" "" "0000326249" "00025282" "30" "3421" "0" "3421" "0" "c.3421C>G" "r.(?)" "p.(Pro1141Ala)" "" "" "" "0000326252" "00024115" "50" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354Phe)" "" "" "" "0000326252" "00025282" "50" "1060" "0" "1060" "0" "c.1060C>T" "r.(?)" "p.(Leu354Phe)" "" "" "" "0000339011" "00024115" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Trp)" "" "" "" "0000339011" "00025282" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Trp)" "" "" "" "0000339398" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(His2220=)" "" "" "" "0000339398" "00025282" "10" "6675" "0" "6675" "0" "c.6675T>C" "r.(?)" "p.(His2225=)" "" "" "" "0000339402" "00024115" "30" "4413" "0" "4413" "0" "c.4413C>T" "r.(?)" "p.(Asp1471=)" "" "" "" "0000339402" "00025282" "30" "4422" "0" "4422" "0" "c.4422C>T" "r.(?)" "p.(Asp1474=)" "" "" "" "0000339404" "00024115" "10" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(Phe1288=)" "" "" "" "0000339404" "00025282" "10" "3873" "0" "3873" "0" "c.3873T>C" "r.(?)" "p.(Phe1291=)" "" "" "" "0000339405" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Val1183=)" "" "" "" "0000339405" "00025282" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Val1186=)" "" "" "" "0000339406" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Arg1020=)" "" "" "" "0000339406" "00025282" "10" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Arg1023=)" "" "" "" "0000339407" "00024115" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000339407" "00025282" "10" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000339411" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000339411" "00025282" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000339412" "00024115" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000339412" "00025282" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000340761" "00024115" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000340761" "00025282" "10" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(Glu394=)" "" "" "" "0000341627" "00024115" "30" "2777" "0" "2777" "0" "c.2777C>T" "r.(?)" "p.(Ala926Val)" "" "" "" "0000341627" "00025282" "30" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Ala929Val)" "" "" "" "0000341980" "00024115" "70" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "" "" "0000341980" "00025282" "70" "4645" "0" "4645" "0" "c.4645C>T" "r.(?)" "p.(Arg1549Ter)" "" "" "" "0000342042" "00024115" "70" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Arg1661His)" "" "" "" "0000342042" "00025282" "70" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666His)" "" "" "" "0000342129" "00024115" "70" "5569" "0" "5569" "0" "c.5569C>T" "r.(?)" "p.(Arg1857Ter)" "" "" "" "0000342129" "00025282" "70" "5547" "-1231" "5547" "-1231" "c.5547-1231C>T" "r.(=)" "p.(=)" "" "" "" "0000342214" "00024115" "50" "6206" "0" "6206" "0" "c.6206G>A" "r.(?)" "p.(Arg2069Gln)" "" "" "" "0000342214" "00025282" "50" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Arg2074Gln)" "" "" "" "0000342227" "00024115" "50" "6269" "0" "6269" "0" "c.6269G>A" "r.(?)" "p.(Arg2090Gln)" "" "" "" "0000342227" "00025282" "50" "6284" "0" "6284" "0" "c.6284G>A" "r.(?)" "p.(Arg2095Gln)" "" "" "" "0000342298" "00024115" "50" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Arg2206Gln)" "" "" "" "0000342298" "00025282" "50" "6632" "0" "6632" "0" "c.6632G>A" "r.(?)" "p.(Arg2211Gln)" "" "" "" "0000342877" "00024115" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" "" "" "" "0000342877" "00025282" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" "" "" "" "0000343414" "00024115" "90" "2518" "0" "2519" "0" "c.2518_2519insCGGC" "r.(?)" "p.(Arg840ProfsTer229)" "" "" "" "0000343414" "00025282" "90" "2527" "0" "2528" "0" "c.2527_2528insCGGC" "r.(?)" "p.(Arg843ProfsTer229)" "" "" "" "0000345033" "00024115" "10" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "" "" "0000345033" "00025282" "10" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Glu1018Lys)" "" "" "" "0000345591" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>A" "r.(?)" "p.(Glu918=)" "" "" "" "0000345591" "00025282" "10" "2763" "0" "2763" "0" "c.2763G>A" "r.(?)" "p.(Glu921=)" "" "" "" "0000345612" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "" "" "" "0000345612" "00025282" "10" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Glu996Val)" "" "" "" "0000345646" "00024115" "10" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "" "" "" "0000345646" "00025282" "10" "3322" "0" "3322" "0" "c.3322G>A" "r.(?)" "p.(Gly1108Ser)" "" "" "" "0000345834" "00024115" "50" "6001" "0" "6001" "0" "c.6001G>A" "r.(?)" "p.(Gly2001Arg)" "" "" "" "0000345834" "00025282" "50" "6016" "0" "6016" "0" "c.6016G>A" "r.(?)" "p.(Gly2006Arg)" "" "" "" "0000347944" "00024115" "90" "3953" "0" "3953" "0" "c.3953del" "r.(?)" "p.(Phe1318SerfsTer2)" "" "" "" "0000347944" "00025282" "90" "3962" "0" "3962" "0" "c.3962del" "r.(?)" "p.(Phe1321SerfsTer2)" "" "" "" "0000347974" "00024115" "50" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Phe189Ser)" "" "" "" "0000347974" "00025282" "50" "566" "0" "566" "0" "c.566T>C" "r.(?)" "p.(Phe189Ser)" "" "" "" "0000349608" "00024115" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Thr698=)" "" "" "" "0000349608" "00025282" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Thr698=)" "" "" "" "0000350890" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(=)" "p.(=)" "" "" "" "0000350890" "00025282" "10" "5419" "-14" "5419" "-14" "c.5419-14C>T" "r.(=)" "p.(=)" "" "" "" "0000350892" "00024115" "90" "3825" "1" "3825" "1" "c.3825+1G>A" "r.spl?" "p.?" "" "" "" "0000350892" "00025282" "90" "3834" "1" "3834" "1" "c.3834+1G>A" "r.spl?" "p.?" "" "" "" "0000350893" "00024115" "10" "2176" "-12" "2176" "-12" "c.2176-12C>T" "r.(=)" "p.(=)" "" "" "" "0000350893" "00025282" "10" "2185" "-12" "2185" "-12" "c.2185-12C>T" "r.(=)" "p.(=)" "" "" "" "0000352490" "00024115" "50" "6443" "0" "6443" "0" "c.6443A>G" "r.(?)" "p.(Glu2148Gly)" "" "" "" "0000352496" "00024115" "70" "5532" "-2" "5532" "-2" "c.5532-2A>C" "r.spl" "p.?" "36i" "" "" "0000369274" "00024115" "50" "5883" "0" "5883" "0" "c.5883G>A" "r.(?)" "p.(Met1961Ile)" "" "" "" "0000369274" "00025282" "50" "5898" "0" "5898" "0" "c.5898G>A" "r.(?)" "p.(Met1966Ile)" "" "" "" "0000392039" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[39]" "r.(?)" "p.(=)" "47" "CAG[26]" "" "0000392039" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[39]" "r.(?)" "p.(Gln2319[26])" "48" "CAG[26]" "" "0000392040" "00024115" "10" "6909" "0" "6999" "0" "c.(*123_*213)=" "r.(=)" "p.(=)" "" "CAG[13]" "" "0000392040" "00025282" "10" "6929" "0" "7019" "0" "c.(6929_7019)=" "r.(=)" "p.(=)" "48" "CAG[13]" "" "0000392041" "00024115" "70" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000392041" "00025282" "70" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000392042" "00024115" "50" "6909" "0" "6999" "0" "c.(*123_*213)insN[21]" "r.(?)" "p.(=)" "47" "CAG[20]" "" "0000392042" "00025282" "50" "6929" "0" "7019" "0" "c.(6929_7019)insN[21]" "r.(?)" "p.(Gln2319[20])" "48" "CAG[20]" "" "0000438145" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438146" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438147" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438148" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438149" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438150" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438151" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438152" "00024115" "77" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "" "0000438153" "00024115" "55" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "" "0000438154" "00024115" "77" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "" "0000438155" "00024115" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000438156" "00024115" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000438157" "00024115" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000438158" "00024115" "77" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000438159" "00024115" "77" "2141" "0" "2141" "0" "c.2141T>C" "r.(?)" "p.(Val714Ala)" "17" "" "" "0000438160" "00024115" "77" "2141" "0" "2141" "0" "c.2141T>C" "r.(?)" "p.(Val714Ala)" "17" "" "" "0000438161" "00024115" "77" "2141" "0" "2141" "0" "c.2141T>C" "r.(?)" "p.(Val714Ala)" "17" "" "" "0000438162" "00024115" "77" "2145" "0" "2145" "0" "c.2145C>G" "r.(?)" "p.(Asp715Glu)" "17" "" "" "0000438163" "00024115" "77" "4366" "0" "4366" "0" "c.4366G>T" "r.(?)" "p.(Val1456Leu)" "27" "" "" "0000438164" "00024115" "77" "4366" "0" "4366" "0" "c.4366G>T" "r.(?)" "p.(Val1456Leu)" "27" "" "" "0000438165" "00024115" "55" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "" "0000438166" "00024115" "55" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "" "0000438167" "00024115" "55" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "" "0000438168" "00024115" "77" "5047" "0" "5047" "0" "c.5047T>A" "r.(?)" "p.(Trp1683Arg)" "32" "" "" "0000438169" "00024115" "77" "4003" "0" "4003" "0" "c.4003A>G" "r.(?)" "p.(Lys1335Glu)" "25" "" "" "0000438170" "00024115" "77" "5083" "0" "5083" "0" "c.5083G>A" "r.(?)" "p.(Val1695Ile)" "33" "" "" "0000439421" "00024115" "30" "-55" "0" "-53" "0" "c.-55_-53dup" "r.(?)" "p.(=)" "1" "" "" "0000439422" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439423" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439424" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439425" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439426" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439427" "00024115" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "4" "" "I S4" "0000439428" "00024115" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "4" "" "I S3" "0000439429" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439430" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439431" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439432" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439433" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439434" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439435" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439436" "00024115" "30" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" "6" "" "L I-II" "0000439437" "00024115" "50" "978" "114" "978" "114" "c.978+114G>A" "r.(?)" "p.(=)" "6" "" "" "0000439438" "00024115" "30" "1182" "0" "1182" "0" "c.1182G>A" "r.(?)" "p.(=)" "8" "" "L I-II" "0000439439" "00024115" "50" "1198" "48" "1198" "48" "c.1198+48G>A" "r.(=)" "p.(=)" "8" "" "" "0000439440" "00024115" "30" "1199" "-31" "1199" "-31" "c.1199-31A>G" "r.(?)" "p.(=)" "9" "" "" "0000439441" "00024115" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "11" "" "II S1" "0000439442" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439443" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439444" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439445" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439446" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439447" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439448" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439449" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439450" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439451" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439452" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439453" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439454" "00024115" "97" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439455" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439456" "00024115" "50" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439457" "00024115" "97" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439458" "00024115" "97" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439459" "00024115" "50" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(=)" "13" "" "II S4" "0000439460" "00024115" "50" "1917" "-39" "1917" "-39" "c.1917-39G>A" "r.(?)" "p.(=)" "15" "" "" "0000439461" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439462" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439463" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439464" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439465" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439466" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439467" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439468" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439469" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439470" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439471" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439472" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439473" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439474" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439475" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439476" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439477" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439478" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439479" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439480" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439481" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439482" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439483" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439484" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439485" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439486" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439487" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439488" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439489" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439490" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439491" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439492" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439493" "00024115" "50" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439494" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439495" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439496" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439497" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439498" "00024115" "30" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(=)" "16" "" "II S6" "0000439499" "00024115" "70" "2141" "0" "2141" "0" "c.2141T>C" "r.(?)" "p.(Val714Ala)" "17" "" "II S6" "0000439500" "00024115" "50" "2754" "0" "2754" "0" "c.2754G>A" "r.(?)" "p.(=)" "19" "" "L II-III" "0000439501" "00024115" "30" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(Glu918Asp)" "19" "" "L II-III" "0000439502" "00024115" "50" "2847" "0" "2847" "0" "c.2847C>G" "r.(?)" "p.(=)" "19" "" "L II-III" "0000439503" "00024115" "50" "2855" "0" "2855" "0" "c.2855C>T" "r.(?)" "p.(Ala952Val)" "19" "" "L II-III" "0000439504" "00024115" "30" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "19" "" "L II-III" "0000439505" "00024115" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "19" "" "L II-III" "0000439506" "00024115" "30" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(=)" "19" "" "L II-III" "0000439507" "00024115" "50" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Pro1060Ser)" "20" "" "L II-III" "0000439508" "00024115" "30" "3313" "0" "3313" "0" "c.3313G>A" "r.(?)" "p.(Gly1105Ser)" "20" "" "L II-III" "0000439509" "00024115" "30" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(=)" "20" "" "L II-III" "0000439510" "00024115" "50" "3550" "0" "3550" "0" "c.3550G>A" "r.(?)" "p.(Val1184Ile)" "20" "" "L II-III" "0000439511" "00024115" "30" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(=)" "23" "" "III S3" "0000439512" "00024115" "50" "4023" "0" "4023" "0" "c.4023G>T" "r.(?)" "p.(=)" "25" "" "" "0000439513" "00024115" "90" "4151" "0" "4151" "0" "c.4151A>G" "r.(?)" "p.(Tyr1384Cys)" "26" "" "III S5" "0000439514" "00024115" "50" "4254" "-28" "4254" "-28" "c.4254-28T>A" "r.(?)" "p.(=)" "27" "" "" "0000439515" "00024115" "50" "4323" "0" "4323" "0" "c.4323C>T" "r.(?)" "p.(=)" "27" "" "III S5-S6" "0000439516" "00024115" "50" "4341" "0" "4341" "0" "c.4341G>A" "r.(?)" "p.(=)" "27" "" "III S5-S6" "0000439517" "00024115" "97" "4366" "0" "4366" "0" "c.4366G>T" "r.(?)" "p.(Val1456Leu)" "27" "" "III P" "0000439518" "00024115" "50" "4494" "0" "4494" "0" "c.4494C>G" "r.(?)" "p.(Phe1498Leu)" "28" "" "III S6" "0000439519" "00024115" "50" "5070" "20" "5070" "20" "c.5070+20G>A" "r.(?)" "p.(=)" "32" "" "" "0000439520" "00024115" "50" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(?)" "p.(=)" "36" "" "" "0000439521" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439522" "00024115" "70" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439523" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439524" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439525" "00024115" "70" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439526" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439527" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439528" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439529" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439530" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439531" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439532" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439533" "00024115" "50" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "36" "" "IV S6" "0000439534" "00024115" "50" "5531" "24" "5531" "24" "c.5531+24C>T" "r.(?)" "p.(=)" "36" "" "" "0000439535" "00024115" "30" "5742" "0" "5742" "0" "c.5742C>T" "r.(?)" "p.(=)" "39" "" "COOH-ter" "0000439536" "00024115" "50" "5900" "0" "5900" "0" "c.5900G>A" "r.(?)" "p.(Arg1967Gln)" "40" "" "" "0000439537" "00024115" "50" "6054" "-3" "6054" "-3" "c.6054-3C>A" "r.(?)" "p.(=)" "42" "" "" "0000439538" "00024115" "50" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Gly2072Asp)" "43" "" "" "0000439539" "00024115" "50" "6342" "62" "6342" "62" "c.6342+62C>A" "r.(?)" "p.(=)" "44" "" "" "0000439540" "00024115" "30" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(=)" "46" "" "COOH-ter" "0000439541" "00024115" "50" "6666" "0" "6666" "0" "c.6666G>A" "r.(?)" "p.(=)" "46" "" "" "0000439542" "00024115" "50" "6835" "0" "6835" "0" "c.*49G>A" "r.(?)" "p.(=)" "46" "" "" "0000439543" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439544" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439545" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439546" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439547" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439548" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439549" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439550" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439551" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439552" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439553" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439554" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439555" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439556" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439557" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439558" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439559" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439560" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439561" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439562" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439563" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439564" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439565" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439566" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439567" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439568" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439569" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439570" "00024115" "50" "4106" "0" "4106" "0" "c.4106G>A" "r.(?)" "p.(Cys1369Tyr)" "26" "" "III S4-S5 loop" "0000439571" "00024115" "50" "4106" "0" "4106" "0" "c.4106G>A" "r.(?)" "p.(Cys1369Tyr)" "26" "" "III S4-S5 loop" "0000439572" "00024115" "50" "4106" "0" "4106" "0" "c.4106G>A" "r.(?)" "p.(Cys1369Tyr)" "26" "" "III S4-S5 loop" "0000439573" "00024115" "50" "4106" "0" "4106" "0" "c.4106G>A" "r.(?)" "p.(Cys1369Tyr)" "26" "" "III S4-S5 loop" "0000439574" "00024115" "70" "5083" "0" "5083" "0" "c.5083G>T" "r.(?)" "p.(Val1695Phe)" "33" "" "IV S5" "0000439575" "00024115" "70" "5083" "0" "5083" "0" "c.5083G>T" "r.(?)" "p.(Val1695Phe)" "33" "" "IV S5" "0000439576" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439577" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439578" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439579" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439580" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439581" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439582" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439583" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439584" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439585" "00024115" "97" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439586" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439587" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439588" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439589" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439590" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000439591" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000439592" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "" "0000439593" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439594" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439595" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439596" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439597" "00024115" "97" "2145" "0" "2145" "0" "c.2145C>G" "r.(?)" "p.(Asp715Glu)" "17" "" "II S6" "0000439598" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439599" "00024115" "97" "5047" "0" "5047" "0" "c.5047T>A" "r.(?)" "p.(Trp1683Arg)" "32" "" "IV S4-S5" "0000439600" "00024115" "70" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "13" "" "II S4" "0000439601" "00024115" "97" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Trp)" "32" "" "IV S4" "0000439602" "00024115" "97" "4003" "0" "4003" "0" "c.4003A>G" "r.(?)" "p.(Lys1335Glu)" "25" "" "III S3-S4" "0000439603" "00024115" "97" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Lys)" "4" "" "I S4" "0000439604" "00024115" "97" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Trp)" "32" "" "IV S4" "0000439605" "00024115" "97" "5083" "0" "5083" "0" "c.5083G>A" "r.(?)" "p.(Val1695Ile)" "33" "" "IV S5" "0000439606" "00024115" "70" "4151" "0" "4151" "0" "c.4151A>G" "r.(?)" "p.(Tyr1384Cys)" "26" "" "III S5" "0000439607" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439608" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439609" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439610" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439611" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439612" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439613" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439614" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439615" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439616" "00024115" "70" "2145" "0" "2145" "0" "c.2145C>G" "r.(?)" "p.(Asp715Glu)" "17" "" "II S6" "0000439617" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439618" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439619" "00024115" "30" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(=)" "6" "" "" "0000439620" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439621" "00024115" "70" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "11" "" "I-II loop" "0000439622" "00024115" "70" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439623" "00024115" "70" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439624" "00024115" "70" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439625" "00024115" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "4" "" "I S3" "0000439626" "00024115" "30" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(=)" "16" "" "II S6" "0000439627" "00024115" "70" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "11" "" "I-II loop" "0000439628" "00024115" "70" "5126" "0" "5126" "0" "c.5126T>C" "r.(?)" "p.(Ile1709Thr)" "33" "" "IV-S5" "0000439629" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III-S4" "0000439630" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III-S4" "0000439631" "00024115" "30" "2690" "0" "2690" "0" "c.2690C>G" "r.(?)" "p.(Pro897Arg)" "19" "" "II-III loop" "0000439632" "00024115" "70" "6238" "0" "6238" "0" "c.6238G>A" "r.(?)" "p.(Glu2080Lys)" "43" "" "COOH-ter" "0000439633" "00024115" "97" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439634" "00024115" "70" "5126" "0" "5126" "0" "c.5126T>C" "r.(?)" "p.(Ile1709Thr)" "33" "" "IV-S5" "0000439635" "00024115" "70" "5126" "0" "5126" "0" "c.5126T>C" "r.(?)" "p.(Ile1709Thr)" "33" "" "IV-S5" "0000439636" "00024115" "70" "5126" "0" "5126" "0" "c.5126T>C" "r.(?)" "p.(Ile1709Thr)" "33" "" "IV-S5" "0000439637" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II-P" "0000439638" "00024115" "70" "5045" "0" "5045" "0" "c.5045T>C" "r.(?)" "p.(Leu1682Pro)" "32" "" "IV S4-S5" "0000439639" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II-P" "0000439640" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II-P" "0000439641" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II-P" "0000439642" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439643" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439644" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439645" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439646" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439647" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439648" "00024115" "97" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439649" "00024115" "70" "4601" "0" "4601" "0" "c.4601G>C" "r.(?)" "p.(Cys1534Ser)" "29" "" "" "0000439650" "00024115" "70" "4601" "0" "4601" "0" "c.4601G>C" "r.(?)" "p.(Cys1534Ser)" "29" "" "" "0000439651" "00024115" "70" "4601" "0" "4601" "0" "c.4601G>C" "r.(?)" "p.(Cys1534Ser)" "29" "" "" "0000439652" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439653" "00024115" "70" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Arg1346Gln)" "25" "" "III S4" "0000439654" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439655" "00024115" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "16" "" "II P" "0000439657" "00024115" "70" "4601" "0" "4601" "0" "c.4601G>C" "r.(?)" "p.(Cys1534Ser)" "29" "" "DIIIloopDIV" "0000439658" "00024115" "70" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Tyr1245Cys)" "22" "" "III S1" "0000439659" "00024115" "70" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Val581Met)" "13" "" "II S4" "0000439660" "00024115" "97" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "5" "" "I S4-S5" "0000439661" "00024115" "70" "4046" "0" "4046" "0" "c.4046G>A" "r.(?)" "p.(Arg1349Gln)" "25" "" "IIIS4" "0000439662" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[42]" "r.(?)" "p.(=)" "47" "CAG[27]" "" "0000439662" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[42]" "r.(?)" "p.(Gln2319[27])" "48" "CAG[27]" "" "0000439663" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[39]" "r.(?)" "p.(=)" "47" "CAG[26]" "" "0000439663" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[39]" "r.(?)" "p.(Gln2319[26])" "48" "CAG[26]" "" "0000439664" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[39]" "r.(?)" "p.(=)" "47" "CAG[26]" "" "0000439664" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[39]" "r.(?)" "p.(Gln2319[26])" "48" "CAG[26]" "" "0000439665" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[39]" "r.(?)" "p.(=)" "47" "CAG[26]" "" "0000439665" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[39]" "r.(?)" "p.(Gln2319[26])" "48" "CAG[26]" "" "0000439666" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[36]" "r.(?)" "p.(=)" "47" "CAG[25]" "" "0000439666" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[36]" "r.(?)" "p.(Gln2319[25])" "48" "CAG[25]" "" "0000439667" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[36]" "r.(?)" "p.(=)" "47" "CAG[25]" "" "0000439667" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[36]" "r.(?)" "p.(Gln2319[25])" "48" "CAG[25]" "" "0000439668" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439668" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439669" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439669" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439670" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439670" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439671" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439671" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439672" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439672" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439673" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439673" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439674" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439674" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439675" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439675" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439676" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439676" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439677" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439677" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439678" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439678" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439679" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[33]" "r.(?)" "p.(=)" "47" "CAG[24]" "" "0000439679" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[33]" "r.(?)" "p.(Gln2319[24])" "48" "CAG[24]" "" "0000439680" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439680" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439681" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439681" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439682" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439682" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439683" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439683" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439684" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439684" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439685" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439685" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439686" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439686" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439687" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439687" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439688" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439688" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439689" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[30]" "r.(?)" "p.(=)" "47" "CAG[23]" "" "0000439689" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[30]" "r.(?)" "p.(Gln2319[23])" "48" "CAG[23]" "" "0000439690" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439690" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439691" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439691" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439692" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439692" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439693" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439693" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439694" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439694" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439695" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439695" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439696" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439696" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439697" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439697" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439698" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439698" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439699" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439699" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439700" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439700" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439701" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439701" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439702" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439702" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439703" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439703" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439704" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439704" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439705" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[27]" "r.(?)" "p.(=)" "47" "CAG[22]" "" "0000439705" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[27]" "r.(?)" "p.(Gln2319[22])" "48" "CAG[22]" "" "0000439706" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439706" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439707" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439707" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439708" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439708" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439848" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439848" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439849" "00024115" "10" "6909" "0" "6999" "0" "c.(*123_*213)insN[15]" "r.(?)" "p.(=)" "47" "CAG[18]" "" "0000439849" "00025282" "10" "6929" "0" "7019" "0" "c.(6929_7019)insN[15]" "r.(?)" "p.(Gln2319[18])" "48" "CAG[18]" "" "0000439850" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439850" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439851" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439851" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439852" "00024115" "30" "6909" "0" "6999" "0" "c.(*123_*213)insN[15]" "r.(?)" "p.(=)" "47" "CAG[18]" "" "0000439852" "00025282" "30" "6929" "0" "7019" "0" "c.(6929_7019)insN[15]" "r.(?)" "p.(Gln2319[18])" "48" "CAG[18]" "" "0000439853" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[3]" "r.(?)" "p.(=)" "47" "CAG[14]" "" "0000439853" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[3]" "r.(?)" "p.(Gln2319[14])" "48" "CAG[14]" "" "0000439854" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439854" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439855" "00024115" "90" "6909" "0" "6999" "0" "c.(*123_*213)insN[24]" "r.(?)" "p.(=)" "47" "CAG[21]" "" "0000439855" "00025282" "90" "6929" "0" "7019" "0" "c.(6929_7019)insN[24]" "r.(?)" "p.(Gln2319[21])" "48" "CAG[21]" "" "0000439885" "00024115" "50" "6440" "0" "6440" "0" "c.6440A>G" "r.(?)" "p.Glu2147Gly" "" "" "" "0000439886" "00024115" "50" "2764" "0" "2764" "0" "c.2764G>A" "r.(?)" "p.Glu922Lys" "" "" "" "0000472591" "00024115" "90" "1563" "0" "1563" "0" "c.1563T>G" "r.(?)" "p.(Tyr521*)" "" "" "" "0000478747" "00024115" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "" "" "0000478747" "00025282" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "" "" "0000499177" "00024115" "30" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(Arg854=)" "" "ACMG: 2" "" "0000499179" "00025282" "70" "5434" "0" "5434" "0" "c.5434G>A" "r.(?)" "p.(Val1812Ile)" "" "" "" "0000499841" "00024115" "90" "4433" "0" "4433" "0" "c.4433del" "r.(?)" "p.(Gly1478Alafs*32)" "" "" "" "0000566166" "00024115" "30" "7438" "0" "7438" "0" "c.*652C>G" "r.(=)" "p.(=)" "" "" "" "0000566166" "00025282" "30" "7458" "0" "7458" "0" "c.7458C>G" "r.(?)" "p.(His2486Gln)" "" "" "" "0000566167" "00024115" "30" "7438" "0" "7438" "0" "c.*652C>G" "r.(=)" "p.(=)" "" "" "" "0000566167" "00025282" "30" "7458" "0" "7458" "0" "c.7458C>G" "r.(?)" "p.(His2486Gln)" "" "" "" "0000566168" "00024115" "30" "7289" "0" "7289" "0" "c.*503G>A" "r.(=)" "p.(=)" "" "" "" "0000566168" "00025282" "30" "7309" "0" "7309" "0" "c.7309G>A" "r.(?)" "p.(Ala2437Thr)" "" "" "" "0000566169" "00024115" "30" "7289" "0" "7289" "0" "c.*503G>A" "r.(=)" "p.(=)" "" "" "" "0000566169" "00025282" "30" "7309" "0" "7309" "0" "c.7309G>A" "r.(?)" "p.(Ala2437Thr)" "" "" "" "0000566170" "00024115" "30" "7289" "0" "7289" "0" "c.*503G>A" "r.(=)" "p.(=)" "" "" "" "0000566170" "00025282" "30" "7309" "0" "7309" "0" "c.7309G>A" "r.(?)" "p.(Ala2437Thr)" "" "" "" "0000566171" "00024115" "30" "7289" "0" "7289" "0" "c.*503G>A" "r.(=)" "p.(=)" "" "" "" "0000566171" "00025282" "30" "7309" "0" "7309" "0" "c.7309G>A" "r.(?)" "p.(Ala2437Thr)" "" "" "" "0000566172" "00024115" "50" "7264" "0" "7269" "0" "c.*478_*483del" "r.(=)" "p.(=)" "" "" "" "0000566172" "00025282" "50" "7284" "0" "7289" "0" "c.7284_7289del" "r.(?)" "p.(Ser2429_Gly2430del)" "" "" "" "0000566173" "00024115" "30" "7260" "0" "7260" "0" "c.*474C>T" "r.(=)" "p.(=)" "" "" "" "0000566173" "00025282" "30" "7280" "0" "7280" "0" "c.7280C>T" "r.(?)" "p.(Pro2427Leu)" "" "" "" "0000566174" "00024115" "30" "7259" "0" "7259" "0" "c.*473C>G" "r.(=)" "p.(=)" "" "" "" "0000566174" "00025282" "30" "7279" "0" "7279" "0" "c.7279C>G" "r.(?)" "p.(Pro2427Ala)" "" "" "" "0000566175" "00024115" "30" "7187" "0" "7187" "0" "c.*401G>A" "r.(=)" "p.(=)" "" "" "" "0000566175" "00025282" "30" "7207" "0" "7207" "0" "c.7207G>A" "r.(?)" "p.(Val2403Met)" "" "" "" "0000566177" "00024115" "10" "6976" "0" "6981" "0" "c.*190_*195del" "r.(=)" "p.(=)" "" "" "" "0000566177" "00025282" "10" "6996" "0" "7001" "0" "c.6996_7001del" "r.(?)" "p.(Val2333_Ala2334del)" "" "" "" "0000566178" "00024115" "30" "6974" "0" "6977" "0" "c.*188_*191del" "r.(=)" "p.(=)" "" "" "" "0000566178" "00025282" "30" "6994" "0" "6997" "0" "c.6994_6997del" "r.(?)" "p.(Ala2332TrpfsTer281)" "" "" "" "0000566180" "00024115" "30" "6956" "0" "6969" "0" "c.*170_*183del" "r.(=)" "p.(=)" "" "" "" "0000566180" "00025282" "30" "6976" "0" "6989" "0" "c.6976_6989del" "r.(?)" "p.(Gln2326AlafsTer178)" "" "" "" "0000566181" "00024115" "30" "6947" "0" "6973" "0" "c.*161_*187del" "r.(=)" "p.(=)" "" "" "" "0000566181" "00025282" "30" "6967" "0" "6993" "0" "c.6967_6993del" "r.(?)" "p.(Gln2323_Gln2331del)" "" "" "" "0000566183" "00024115" "30" "6965" "0" "6973" "0" "c.*179_*187del" "r.(=)" "p.(=)" "" "" "" "0000566183" "00025282" "30" "6985" "0" "6993" "0" "c.6985_6993del" "r.(?)" "p.(Gln2329_Gln2331del)" "" "" "" "0000566185" "00024115" "30" "6968" "0" "6973" "0" "c.*182_*187del" "r.(=)" "p.(=)" "" "" "" "0000566185" "00025282" "30" "6988" "0" "6993" "0" "c.6988_6993del" "r.(?)" "p.(Gln2330_Gln2331del)" "" "" "" "0000566186" "00024115" "10" "6968" "0" "6973" "0" "c.*182_*187dup" "r.(=)" "p.(=)" "" "" "" "0000566186" "00025282" "10" "6988" "0" "6993" "0" "c.6988_6993dup" "r.(?)" "p.(Gln2330_Gln2331dup)" "" "" "" "0000566189" "00024115" "50" "6778" "0" "6778" "0" "c.6778C>T" "r.(?)" "p.(Arg2260Trp)" "" "" "" "0000566189" "00025282" "50" "6793" "0" "6793" "0" "c.6793C>T" "r.(?)" "p.(Arg2265Trp)" "" "" "" "0000566190" "00024115" "30" "6757" "0" "6757" "0" "c.6757G>A" "r.(?)" "p.(Gly2253Ser)" "" "" "" "0000566190" "00025282" "30" "6772" "0" "6772" "0" "c.6772G>A" "r.(?)" "p.(Gly2258Ser)" "" "" "" "0000566191" "00024115" "30" "6713" "0" "6713" "0" "c.6713G>A" "r.(?)" "p.(Arg2238Gln)" "" "" "" "0000566191" "00025282" "30" "6728" "0" "6728" "0" "c.6728G>A" "r.(?)" "p.(Arg2243Gln)" "" "" "" "0000566193" "00024115" "10" "6661" "0" "6662" "0" "c.6661_6662insACC" "r.(?)" "p.(His2220dup)" "" "" "" "0000566193" "00025282" "10" "6676" "0" "6677" "0" "c.6676_6677insACC" "r.(?)" "p.(His2225dup)" "" "" "" "0000566194" "00024115" "30" "6661" "0" "6662" "0" "c.6661_6662insACC" "r.(?)" "p.(His2220dup)" "" "" "" "0000566194" "00025282" "30" "6676" "0" "6677" "0" "c.6676_6677insACC" "r.(?)" "p.(His2225dup)" "" "" "" "0000566195" "00024115" "50" "6661" "0" "6662" "0" "c.6661_6662insACCACC" "r.(?)" "p.(His2219_His2220dup)" "" "" "" "0000566195" "00025282" "50" "6676" "0" "6677" "0" "c.6676_6677insACCACC" "r.(?)" "p.(His2224_His2225dup)" "" "" "" "0000566196" "00024115" "30" "6587" "0" "6587" "0" "c.6587G>A" "r.(?)" "p.(Arg2196Gln)" "" "" "" "0000566196" "00025282" "30" "6602" "0" "6602" "0" "c.6602G>A" "r.(?)" "p.(Arg2201Gln)" "" "" "" "0000566197" "00024115" "30" "6467" "0" "6467" "0" "c.6467G>T" "r.(?)" "p.(Arg2156Leu)" "" "" "" "0000566197" "00025282" "30" "6482" "0" "6482" "0" "c.6482G>T" "r.(?)" "p.(Arg2161Leu)" "" "" "" "0000566198" "00024115" "30" "6281" "0" "6281" "0" "c.6281T>C" "r.(?)" "p.(Met2094Thr)" "" "" "" "0000566198" "00025282" "30" "6296" "0" "6296" "0" "c.6296T>C" "r.(?)" "p.(Met2099Thr)" "" "" "" "0000566199" "00024115" "30" "6280" "0" "6280" "0" "c.6280A>G" "r.(?)" "p.(Met2094Val)" "" "" "" "0000566199" "00025282" "30" "6295" "0" "6295" "0" "c.6295A>G" "r.(?)" "p.(Met2099Val)" "" "" "" "0000566200" "00024115" "30" "6280" "0" "6280" "0" "c.6280A>G" "r.(?)" "p.(Met2094Val)" "" "" "" "0000566200" "00025282" "30" "6295" "0" "6295" "0" "c.6295A>G" "r.(?)" "p.(Met2099Val)" "" "" "" "0000566201" "00024115" "30" "6253" "0" "6253" "0" "c.6253A>G" "r.(?)" "p.(Met2085Val)" "" "" "" "0000566201" "00025282" "30" "6268" "0" "6268" "0" "c.6268A>G" "r.(?)" "p.(Met2090Val)" "" "" "" "0000566202" "00024115" "30" "6195" "0" "6195" "0" "c.6195C>T" "r.(?)" "p.(Ser2065=)" "" "" "" "0000566202" "00025282" "30" "6210" "0" "6210" "0" "c.6210C>T" "r.(?)" "p.(Ser2070=)" "" "" "" "0000566203" "00024115" "70" "6109" "0" "6109" "0" "c.6109C>T" "r.(?)" "p.(Gln2037Ter)" "" "" "" "0000566203" "00025282" "70" "6124" "0" "6124" "0" "c.6124C>T" "r.(?)" "p.(Gln2042Ter)" "" "" "" "0000566204" "00024115" "30" "6094" "0" "6094" "0" "c.6094G>C" "r.(?)" "p.(Val2032Leu)" "" "" "" "0000566204" "00025282" "30" "6109" "0" "6109" "0" "c.6109G>C" "r.(?)" "p.(Val2037Leu)" "" "" "" "0000566205" "00024115" "50" "6070" "0" "6070" "0" "c.6070G>A" "r.(?)" "p.(Gly2024Ser)" "" "" "" "0000566205" "00025282" "50" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Gly2029Ser)" "" "" "" "0000566207" "00024115" "30" "6016" "0" "6016" "0" "c.6016G>A" "r.(?)" "p.(Ala2006Thr)" "" "" "" "0000566207" "00025282" "30" "6031" "0" "6031" "0" "c.6031G>A" "r.(?)" "p.(Ala2011Thr)" "" "" "" "0000566208" "00024115" "30" "6004" "0" "6004" "0" "c.6004C>T" "r.(?)" "p.(Pro2002Ser)" "" "" "" "0000566208" "00025282" "30" "6019" "0" "6019" "0" "c.6019C>T" "r.(?)" "p.(Pro2007Ser)" "" "" "" "0000566209" "00024115" "50" "5983" "0" "5983" "0" "c.5983T>C" "r.(?)" "p.(Ser1995Pro)" "" "" "" "0000566209" "00025282" "50" "5998" "0" "5998" "0" "c.5998T>C" "r.(?)" "p.(Ser2000Pro)" "" "" "" "0000566210" "00024115" "50" "5974" "0" "5974" "0" "c.5974G>A" "r.(?)" "p.(Glu1992Lys)" "" "" "" "0000566210" "00025282" "50" "5989" "0" "5989" "0" "c.5989G>A" "r.(?)" "p.(Glu1997Lys)" "" "" "" "0000566211" "00024115" "90" "5666" "0" "5668" "0" "c.5666_5668delinsC" "r.(?)" "p.(Asn1889ThrfsTer33)" "" "" "" "0000566211" "00025282" "90" "5681" "0" "5683" "0" "c.5681_5683delinsC" "r.(?)" "p.(Asn1894ThrfsTer33)" "" "" "" "0000566212" "00024115" "10" "5628" "1330" "5628" "1330" "c.5628+1330C>T" "r.(=)" "p.(=)" "" "" "" "0000566212" "00025282" "10" "5643" "62" "5643" "62" "c.5643+62C>T" "r.(=)" "p.(=)" "" "" "" "0000566213" "00024115" "50" "5628" "1170" "5628" "1170" "c.5628+1170A>G" "r.(=)" "p.(=)" "" "" "" "0000566213" "00025282" "50" "5547" "-2" "5547" "-2" "c.5547-2A>G" "r.spl?" "p.?" "" "" "" "0000566214" "00024115" "10" "5404" "-14" "5404" "-14" "c.5404-14C>T" "r.(=)" "p.(=)" "" "" "" "0000566214" "00025282" "10" "5419" "-14" "5419" "-14" "c.5419-14C>T" "r.(=)" "p.(=)" "" "" "" "0000566215" "00024115" "50" "5351" "0" "5351" "0" "c.5351A>T" "r.(?)" "p.(Asn1784Ile)" "" "" "" "0000566215" "00025282" "50" "5366" "0" "5366" "0" "c.5366A>T" "r.(?)" "p.(Asn1789Ile)" "" "" "" "0000566216" "00024115" "70" "5338" "0" "5338" "0" "c.5338C>T" "r.(?)" "p.(Arg1780Ter)" "" "" "" "0000566216" "00025282" "70" "5353" "0" "5353" "0" "c.5353C>T" "r.(?)" "p.(Arg1785Ter)" "" "" "" "0000566217" "00024115" "90" "4991" "0" "4991" "0" "c.4991G>A" "r.(?)" "p.(Arg1664Gln)" "" "" "" "0000566217" "00025282" "90" "5006" "0" "5006" "0" "c.5006G>A" "r.(?)" "p.(Arg1669Gln)" "" "" "" "0000566218" "00024115" "50" "4970" "0" "4970" "0" "c.4970T>G" "r.(?)" "p.(Leu1657Arg)" "" "" "" "0000566218" "00025282" "50" "4985" "0" "4985" "0" "c.4985T>G" "r.(?)" "p.(Leu1662Arg)" "" "" "" "0000566219" "00024115" "30" "4953" "72" "4953" "72" "c.4953+72G>A" "r.(=)" "p.(=)" "" "" "" "0000566219" "00025282" "30" "4962" "72" "4962" "72" "c.4962+72G>A" "r.(=)" "p.(=)" "" "" "" "0000566220" "00024115" "30" "4831" "0" "4831" "0" "c.4831C>G" "r.(?)" "p.(Leu1611Val)" "" "" "" "0000566220" "00025282" "30" "4840" "0" "4840" "0" "c.4840C>G" "r.(?)" "p.(Leu1614Val)" "" "" "" "0000566221" "00024115" "30" "4647" "0" "4647" "0" "c.4647G>A" "r.(?)" "p.(Pro1549=)" "" "" "" "0000566221" "00025282" "30" "4656" "0" "4656" "0" "c.4656G>A" "r.(?)" "p.(Pro1552=)" "" "" "" "0000566223" "00024115" "30" "4594" "-9" "4594" "-9" "c.4594-9C>G" "r.(=)" "p.(=)" "" "" "" "0000566223" "00025282" "30" "4603" "-9" "4603" "-9" "c.4603-9C>G" "r.(=)" "p.(=)" "" "" "" "0000566224" "00024115" "30" "4594" "-9" "4594" "-9" "c.4594-9C>G" "r.(=)" "p.(=)" "" "" "" "0000566224" "00025282" "30" "4603" "-9" "4603" "-9" "c.4603-9C>G" "r.(=)" "p.(=)" "" "" "" "0000566225" "00024115" "50" "4301" "0" "4301" "0" "c.4301G>A" "r.(?)" "p.(Arg1434Gln)" "" "" "" "0000566225" "00025282" "50" "4310" "0" "4310" "0" "c.4310G>A" "r.(?)" "p.(Arg1437Gln)" "" "" "" "0000566226" "00024115" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Asp1433Asn)" "" "" "" "0000566226" "00025282" "30" "4306" "0" "4306" "0" "c.4306G>A" "r.(?)" "p.(Asp1436Asn)" "" "" "" "0000566227" "00024115" "70" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Met)" "" "" "" "0000566227" "00025282" "70" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "" "" "0000566228" "00024115" "70" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Met)" "" "" "" "0000566228" "00025282" "70" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "" "" "0000566229" "00024115" "70" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Trp)" "" "" "" "0000566229" "00025282" "70" "4084" "0" "4084" "0" "c.4084C>T" "r.(?)" "p.(Arg1362Trp)" "" "" "" "0000566231" "00024115" "10" "3864" "0" "3864" "0" "c.3864T>C" "r.(?)" "p.(Phe1288=)" "" "" "" "0000566231" "00025282" "10" "3873" "0" "3873" "0" "c.3873T>C" "r.(?)" "p.(Phe1291=)" "" "" "" "0000566232" "00024115" "90" "3695" "1" "3695" "1" "c.3695+1G>A" "r.spl?" "p.?" "" "" "" "0000566232" "00025282" "90" "3704" "1" "3704" "1" "c.3704+1G>A" "r.spl?" "p.?" "" "" "" "0000566233" "00024115" "30" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Arg1210Cys)" "" "" "" "0000566233" "00025282" "30" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Arg1213Cys)" "" "" "" "0000566234" "00024115" "50" "3618" "0" "3620" "0" "c.3618_3620del" "r.(?)" "p.(Glu1207del)" "" "" "" "0000566234" "00025282" "50" "3627" "0" "3629" "0" "c.3627_3629del" "r.(?)" "p.(Glu1210del)" "" "" "" "0000566236" "00024115" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Ser1151=)" "" "" "" "0000566236" "00025282" "30" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Ser1154=)" "" "" "" "0000566237" "00024115" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Ser1151=)" "" "" "" "0000566237" "00025282" "30" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Ser1154=)" "" "" "" "0000566238" "00024115" "50" "3413" "0" "3413" "0" "c.3413C>A" "r.(?)" "p.(Pro1138His)" "" "" "" "0000566238" "00025282" "50" "3422" "0" "3422" "0" "c.3422C>A" "r.(?)" "p.(Pro1141His)" "" "" "" "0000566239" "00024115" "50" "3412" "0" "3412" "0" "c.3412C>G" "r.(?)" "p.(Pro1138Ala)" "" "" "" "0000566239" "00025282" "50" "3421" "0" "3421" "0" "c.3421C>G" "r.(?)" "p.(Pro1141Ala)" "" "" "" "0000566240" "00024115" "30" "3412" "0" "3412" "0" "c.3412C>G" "r.(?)" "p.(Pro1138Ala)" "" "" "" "0000566240" "00025282" "30" "3421" "0" "3421" "0" "c.3421C>G" "r.(?)" "p.(Pro1141Ala)" "" "" "" "0000566241" "00024115" "30" "3387" "0" "3387" "0" "c.3387G>A" "r.(?)" "p.(Pro1129=)" "" "" "" "0000566241" "00025282" "30" "3396" "0" "3396" "0" "c.3396G>A" "r.(?)" "p.(Pro1132=)" "" "" "" "0000566243" "00024115" "10" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Arg1020=)" "" "" "" "0000566243" "00025282" "10" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Arg1023=)" "" "" "" "0000566244" "00024115" "30" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "" "" "0000566244" "00025282" "30" "3052" "0" "3052" "0" "c.3052G>A" "r.(?)" "p.(Glu1018Lys)" "" "" "" "0000566245" "00024115" "30" "3003" "0" "3003" "0" "c.3003G>A" "r.(?)" "p.(Glu1001=)" "" "" "" "0000566245" "00025282" "30" "3012" "0" "3012" "0" "c.3012G>A" "r.(?)" "p.(Glu1004=)" "" "" "" "0000566246" "00024115" "50" "2992" "0" "2992" "0" "c.2992G>A" "r.(?)" "p.(Asp998Asn)" "" "" "" "0000566246" "00025282" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Asp1001Asn)" "" "" "" "0000566247" "00024115" "10" "2978" "0" "2978" "0" "c.2978A>T" "r.(?)" "p.(Glu993Val)" "" "" "" "0000566247" "00025282" "10" "2987" "0" "2987" "0" "c.2987A>T" "r.(?)" "p.(Glu996Val)" "" "" "" "0000566248" "00024115" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Pro986=)" "" "" "" "0000566248" "00025282" "30" "2967" "0" "2967" "0" "c.2967G>C" "r.(?)" "p.(Pro989=)" "" "" "" "0000566249" "00024115" "30" "2925" "0" "2925" "0" "c.2925G>C" "r.(?)" "p.(Glu975Asp)" "" "" "" "0000566249" "00025282" "30" "2934" "0" "2934" "0" "c.2934G>C" "r.(?)" "p.(Glu978Asp)" "" "" "" "0000566250" "00024115" "30" "2847" "0" "2847" "0" "c.2847C>G" "r.(?)" "p.(Arg949=)" "" "" "" "0000566250" "00025282" "30" "2856" "0" "2856" "0" "c.2856C>G" "r.(?)" "p.(Arg952=)" "" "" "" "0000566251" "00024115" "30" "2826" "0" "2826" "0" "c.2826G>A" "r.(?)" "p.(Glu942=)" "" "" "" "0000566251" "00025282" "30" "2835" "0" "2835" "0" "c.2835G>A" "r.(?)" "p.(Glu945=)" "" "" "" "0000566252" "00024115" "10" "2754" "0" "2754" "0" "c.2754G>C" "r.(?)" "p.(Glu918Asp)" "" "" "" "0000566252" "00025282" "10" "2763" "0" "2763" "0" "c.2763G>C" "r.(?)" "p.(Glu921Asp)" "" "" "" "0000566253" "00024115" "30" "2679" "0" "2679" "0" "c.2679C>T" "r.(?)" "p.(Ser893=)" "" "" "" "0000566253" "00025282" "30" "2688" "0" "2688" "0" "c.2688C>T" "r.(?)" "p.(Ser896=)" "" "" "" "0000566254" "00024115" "50" "2354" "0" "2354" "0" "c.2354A>G" "r.(?)" "p.(Gln785Arg)" "" "" "" "0000566254" "00025282" "50" "2363" "0" "2363" "0" "c.2363A>G" "r.(?)" "p.(Gln788Arg)" "" "" "" "0000566255" "00024115" "70" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Arg783Ter)" "" "" "" "0000566255" "00025282" "70" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(Arg786Ter)" "" "" "" "0000566256" "00024115" "50" "2276" "0" "2276" "0" "c.2276T>C" "r.(?)" "p.(Ile759Thr)" "" "" "" "0000566256" "00025282" "50" "2285" "0" "2285" "0" "c.2285T>C" "r.(?)" "p.(Ile762Thr)" "" "" "" "0000566257" "00024115" "30" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "" "" "" "0000566257" "00025282" "30" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "" "" "0000566258" "00024115" "30" "1917" "-4" "1917" "-4" "c.1917-4G>A" "r.spl?" "p.?" "" "" "" "0000566258" "00025282" "30" "1917" "-4" "1917" "-4" "c.1917-4G>A" "r.spl?" "p.?" "" "" "" "0000566259" "00024115" "50" "1873" "0" "1873" "0" "c.1873A>G" "r.(?)" "p.(Ile625Val)" "" "" "" "0000566259" "00025282" "50" "1873" "0" "1873" "0" "c.1873A>G" "r.(?)" "p.(Ile625Val)" "" "" "" "0000566260" "00024115" "30" "1872" "0" "1872" "0" "c.1872C>T" "r.(?)" "p.(Phe624=)" "" "" "" "0000566260" "00025282" "30" "1872" "0" "1872" "0" "c.1872C>T" "r.(?)" "p.(Phe624=)" "" "" "" "0000566261" "00024115" "90" "1785" "-1" "1785" "-1" "c.1785-1G>C" "r.spl?" "p.?" "" "" "" "0000566261" "00025282" "90" "1785" "-1" "1785" "-1" "c.1785-1G>C" "r.spl?" "p.?" "" "" "" "0000566262" "00024115" "90" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "" "" "" "0000566262" "00025282" "90" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "" "" "" "0000566263" "00024115" "50" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Val581Leu)" "" "" "" "0000566263" "00025282" "50" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Val581Leu)" "" "" "" "0000566264" "00024115" "30" "1671" "7" "1671" "7" "c.1671+7G>A" "r.(=)" "p.(=)" "" "" "" "0000566264" "00025282" "30" "1671" "7" "1671" "7" "c.1671+7G>A" "r.(=)" "p.(=)" "" "" "" "0000566265" "00024115" "10" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "" "" "0000566265" "00025282" "10" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "" "" "0000566266" "00024115" "50" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Leu529Pro)" "" "" "" "0000566266" "00025282" "50" "1586" "0" "1586" "0" "c.1586T>C" "r.(?)" "p.(Leu529Pro)" "" "" "" "0000566268" "00024115" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Ser466=)" "" "" "" "0000566268" "00025282" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(Ser466=)" "" "" "" "0000566270" "00024115" "50" "1170" "0" "1170" "0" "c.1170T>A" "r.(?)" "p.(Asn390Lys)" "" "" "" "0000566270" "00025282" "50" "1170" "0" "1170" "0" "c.1170T>A" "r.(?)" "p.(Asn390Lys)" "" "" "" "0000566271" "00024115" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Asp302Asn)" "" "" "" "0000566271" "00025282" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Asp302Asn)" "" "" "" "0000566272" "00024115" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000566272" "00025282" "10" "876" "0" "876" "0" "c.876A>G" "r.(?)" "p.(Glu292=)" "" "" "" "0000566273" "00024115" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000566273" "00025282" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000566274" "00024115" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000566274" "00025282" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000566275" "00024115" "30" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Ser51=)" "" "" "" "0000566275" "00025282" "30" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Ser51=)" "" "" "" "0000566276" "00024115" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "" "" "0000566276" "00025282" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "" "" "0000566277" "00024115" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Arg)" "" "" "" "0000566277" "00025282" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Arg)" "" "" "" "0000578324" "00024115" "50" "2407" "0" "2407" "0" "c.2407C>A" "r.(?)" "p.Arg803Ser" "" "" "" "0000604190" "00024115" "70" "5083" "0" "5083" "0" "c.5083G>T" "r.(?)" "p.(Val1695Phe)" "" "" "" "0000604481" "00024115" "50" "6500" "0" "6500" "0" "c.6500C>T" "r.(?)" "p.(Ser2167Phe)" "" "" "" "0000617373" "00024115" "50" "7422" "0" "7422" "0" "c.*636G>T" "r.(=)" "p.(=)" "" "" "" "0000617373" "00025282" "50" "7442" "0" "7442" "0" "c.7442G>T" "r.(?)" "p.(Gly2481Val)" "" "" "" "0000617374" "00024115" "30" "6971" "0" "6973" "0" "c.*185_*187dup" "r.(=)" "p.(=)" "" "" "" "0000617374" "00025282" "30" "6991" "0" "6993" "0" "c.6991_6993dup" "r.(?)" "p.(Gln2331dup)" "" "" "" "0000617375" "00024115" "30" "6529" "7" "6529" "7" "c.6529+7A>G" "r.(=)" "p.(=)" "" "" "" "0000617375" "00025282" "30" "6544" "7" "6544" "7" "c.6544+7A>G" "r.(=)" "p.(=)" "" "" "" "0000617376" "00024115" "50" "6128" "0" "6128" "0" "c.6128C>T" "r.(?)" "p.(Thr2043Met)" "" "" "" "0000617376" "00025282" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Thr2048Met)" "" "" "" "0000617377" "00024115" "30" "5654" "0" "5654" "0" "c.5654T>A" "r.(?)" "p.(Val1885Asp)" "" "" "" "0000617377" "00025282" "30" "5669" "0" "5669" "0" "c.5669T>A" "r.(?)" "p.(Val1890Asp)" "" "" "" "0000617378" "00024115" "30" "4611" "0" "4611" "0" "c.4611C>T" "r.(?)" "p.(Phe1537=)" "" "" "" "0000617378" "00025282" "30" "4620" "0" "4620" "0" "c.4620C>T" "r.(?)" "p.(Phe1540=)" "" "" "" "0000617379" "00024115" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Ala1431=)" "" "" "" "0000617379" "00025282" "30" "4302" "0" "4302" "0" "c.4302G>A" "r.(?)" "p.(Ala1434=)" "" "" "" "0000617380" "00024115" "90" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352Gln)" "" "" "" "0000617380" "00025282" "90" "4064" "0" "4064" "0" "c.4064G>A" "r.(?)" "p.(Arg1355Gln)" "" "" "" "0000617381" "00024115" "90" "4046" "0" "4046" "0" "c.4046G>A" "r.(?)" "p.(Arg1349Gln)" "" "" "" "0000617381" "00025282" "90" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352Gln)" "" "" "" "0000617382" "00024115" "30" "3621" "0" "3621" "0" "c.3621A>G" "r.(?)" "p.(Glu1207=)" "" "" "" "0000617382" "00025282" "30" "3630" "0" "3630" "0" "c.3630A>G" "r.(?)" "p.(Glu1210=)" "" "" "" "0000617383" "00024115" "30" "3268" "0" "3268" "0" "c.3268G>T" "r.(?)" "p.(Gly1090Cys)" "" "" "" "0000617383" "00025282" "30" "3277" "0" "3277" "0" "c.3277G>T" "r.(?)" "p.(Gly1093Cys)" "" "" "" "0000617384" "00024115" "10" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "" "" "" "0000617384" "00025282" "10" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "" "" "0000617385" "00024115" "50" "1784" "3" "1784" "6" "c.1784+3_1784+6del" "r.spl?" "p.?" "" "" "" "0000617385" "00025282" "50" "1784" "3" "1784" "6" "c.1784+3_1784+6del" "r.spl?" "p.?" "" "" "" "0000617386" "00024115" "70" "1401" "0" "1401" "0" "c.1401dup" "r.(?)" "p.(Phe468LeufsTer88)" "" "" "" "0000617386" "00025282" "70" "1401" "0" "1401" "0" "c.1401dup" "r.(?)" "p.(Phe468LeufsTer88)" "" "" "" "0000617387" "00024115" "90" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Asp302Asn)" "" "" "" "0000617387" "00025282" "90" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Asp302Asn)" "" "" "" "0000623942" "00024115" "50" "6757" "0" "6757" "0" "c.6757G>A" "r.(?)" "p.(Gly2253Ser)" "" "" "" "0000623942" "00025282" "50" "6772" "0" "6772" "0" "c.6772G>A" "r.(?)" "p.(Gly2258Ser)" "" "" "" "0000623943" "00024115" "30" "1575" "0" "1575" "0" "c.1575T>A" "r.(?)" "p.(Ile525=)" "" "" "" "0000623943" "00025282" "30" "1575" "0" "1575" "0" "c.1575T>A" "r.(?)" "p.(Ile525=)" "" "" "" "0000626494" "00024115" "50" "3533" "0" "3533" "0" "c.3533C>G" "r.(?)" "p.(Pro1178Arg)" "" "" "" "0000629292" "00024115" "90" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "" "" "" "0000629292" "00025282" "90" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Thr666Met)" "" "" "" "0000647268" "00024115" "70" "4991" "0" "4991" "0" "c.4991G>A" "r.(?)" "p.(Arg1664Gln)" "" "" "" "0000647280" "00025282" "70" "781" "0" "781" "0" "c.781del" "r.(?)" "p.(Thr261GlnfsTer49)" "" "" "" "0000649904" "00024115" "50" "3169" "0" "3169" "0" "c.3169C>T" "r.(?)" "p.(Arg1057Cys)" "" "" "" "0000649904" "00025282" "50" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Arg1060Cys)" "" "" "" "0000649905" "00024115" "10" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "" "" "" "0000649905" "00025282" "10" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "" "" "0000658494" "00024115" "50" "7260" "0" "7260" "0" "c.*474C>T" "r.(=)" "p.(=)" "" "" "" "0000658494" "00025282" "50" "7280" "0" "7280" "0" "c.7280C>T" "r.(?)" "p.(Pro2427Leu)" "" "" "" "0000658495" "00024115" "50" "7259" "0" "7259" "0" "c.*473C>G" "r.(=)" "p.(=)" "" "" "" "0000658495" "00025282" "50" "7279" "0" "7279" "0" "c.7279C>G" "r.(?)" "p.(Pro2427Ala)" "" "" "" "0000658496" "00024115" "50" "6475" "0" "6475" "0" "c.6475C>A" "r.(?)" "p.(Arg2159Ser)" "" "" "" "0000658496" "00025282" "50" "6490" "0" "6490" "0" "c.6490C>A" "r.(?)" "p.(Arg2164Ser)" "" "" "" "0000658497" "00024115" "30" "6382" "0" "6382" "0" "c.6382G>A" "r.(?)" "p.(Val2128Met)" "" "" "" "0000658497" "00025282" "30" "6397" "0" "6397" "0" "c.6397G>A" "r.(?)" "p.(Val2133Met)" "" "" "" "0000658498" "00024115" "30" "3528" "0" "3528" "0" "c.3528A>G" "r.(?)" "p.(Pro1176=)" "" "" "" "0000658498" "00025282" "30" "3537" "0" "3537" "0" "c.3537A>G" "r.(?)" "p.(Pro1179=)" "" "" "" "0000658499" "00024115" "50" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Cys)" "" "" "" "0000658499" "00025282" "50" "3376" "0" "3376" "0" "c.3376C>T" "r.(?)" "p.(Arg1126Cys)" "" "" "" "0000658500" "00024115" "30" "3003" "0" "3003" "0" "c.3003G>A" "r.(?)" "p.(Glu1001=)" "" "" "" "0000658500" "00025282" "30" "3012" "0" "3012" "0" "c.3012G>A" "r.(?)" "p.(Glu1004=)" "" "" "" "0000658501" "00024115" "30" "2690" "0" "2690" "0" "c.2690C>G" "r.(?)" "p.(Pro897Arg)" "" "" "" "0000658501" "00025282" "30" "2699" "0" "2699" "0" "c.2699C>G" "r.(?)" "p.(Pro900Arg)" "" "" "" "0000658502" "00024115" "50" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "" "" "0000658502" "00025282" "50" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "" "" "0000658503" "00024115" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "" "" "0000658503" "00025282" "50" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Ala278Thr)" "" "" "" "0000659708" "00024115" "70" "2395" "0" "2395" "0" "c.2395del" "r.(?)" "p.(Asp799Thrfs*18)" "" "" "" "0000660687" "00024115" "50" "6654" "0" "6659" "0" "c.6654_6659dup" "r.(?)" "p.(His2219_His2220dup)" "" "" "" "0000665617" "00024115" "50" "6500" "0" "6500" "0" "c.6500C>T" "r.(?)" "p.(Ser2167Phe)" "" "" "" "0000667407" "00024115" "70" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Asp302Asn)" "" "" "" "0000667494" "00024115" "90" "1915" "0" "1915" "0" "c.1915C>T" "r.(?)" "p.(Gln639*)" "" "" "" "0000667496" "00024115" "70" "5263" "0" "5263" "0" "c.5263G>A" "r.(?)" "p.(Gly1755Arg)" "" "" "" "0000667633" "00024115" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0000667633" "00025282" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0000675096" "00024115" "50" "6683" "0" "6683" "0" "c.6683G>T" "r.(?)" "p.(Arg2228Leu)" "" "" "" "0000675096" "00025282" "50" "6698" "0" "6698" "0" "c.6698G>T" "r.(?)" "p.(Arg2233Leu)" "" "" "" "0000675114" "00024115" "90" "2767" "0" "2767" "0" "c.2767C>T" "r.(?)" "p.(Arg923*)" "19" "" "" "0000681294" "00024115" "30" "7050" "0" "7050" "0" "c.*264G>A" "r.(=)" "p.(=)" "" "" "" "0000681294" "00025282" "30" "7070" "0" "7070" "0" "c.7070G>A" "r.(?)" "p.(Gly2357Glu)" "" "" "" "0000681295" "00024115" "30" "5735" "-11" "5735" "-11" "c.5735-11C>T" "r.(=)" "p.(=)" "" "" "" "0000681295" "00025282" "30" "5750" "-11" "5750" "-11" "c.5750-11C>T" "r.(=)" "p.(=)" "" "" "" "0000681296" "00024115" "30" "5652" "0" "5652" "0" "c.5652C>G" "r.(?)" "p.(Pro1884=)" "" "" "" "0000681296" "00025282" "30" "5667" "0" "5667" "0" "c.5667C>G" "r.(?)" "p.(Pro1889=)" "" "" "" "0000681297" "00024115" "50" "5104" "0" "5104" "0" "c.5104C>T" "r.(?)" "p.(Leu1702Phe)" "" "" "" "0000681297" "00025282" "50" "5119" "0" "5119" "0" "c.5119C>T" "r.(?)" "p.(Leu1707Phe)" "" "" "" "0000681298" "00024115" "30" "4224" "0" "4224" "0" "c.4224C>T" "r.(?)" "p.(Asp1408=)" "" "" "" "0000681298" "00025282" "30" "4233" "0" "4233" "0" "c.4233C>T" "r.(?)" "p.(Asp1411=)" "" "" "" "0000681299" "00024115" "30" "3528" "0" "3528" "0" "c.3528A>C" "r.(?)" "p.(Pro1176=)" "" "" "" "0000681299" "00025282" "30" "3537" "0" "3537" "0" "c.3537A>C" "r.(?)" "p.(Pro1179=)" "" "" "" "0000681300" "00024115" "30" "3291" "0" "3291" "0" "c.3291G>A" "r.(?)" "p.(Lys1097=)" "" "" "" "0000681300" "00025282" "30" "3300" "0" "3300" "0" "c.3300G>A" "r.(?)" "p.(Lys1100=)" "" "" "" "0000681301" "00024115" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Pro986=)" "" "" "" "0000681301" "00025282" "30" "2967" "0" "2967" "0" "c.2967G>C" "r.(?)" "p.(Pro989=)" "" "" "" "0000681302" "00024115" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Glu830=)" "" "" "" "0000681302" "00025282" "30" "2499" "0" "2499" "0" "c.2499G>A" "r.(?)" "p.(Glu833=)" "" "" "" "0000681303" "00024115" "70" "1198" "1" "1198" "1" "c.1198+1G>A" "r.spl?" "p.?" "" "" "" "0000681303" "00025282" "70" "1198" "1" "1198" "1" "c.1198+1G>A" "r.spl?" "p.?" "" "" "" "0000687738" "00024115" "70" "4497" "0" "4497" "0" "c.4497del" "r.(?)" "p.(Phe1500Serfs*10)" "" "" "" "0000692697" "00024115" "50" "7071" "0" "7071" "0" "c.*285G>A" "r.(=)" "p.(=)" "" "" "" "0000692697" "00025282" "50" "7091" "0" "7091" "0" "c.7091G>A" "r.(?)" "p.(Gly2364Asp)" "" "" "" "0000692698" "00024115" "30" "6962" "0" "6973" "0" "c.*176_*187dup" "r.(=)" "p.(=)" "" "" "" "0000692698" "00025282" "30" "6982" "0" "6993" "0" "c.6982_6993dup" "r.(?)" "p.(Gln2328_Gln2331dup)" "" "" "" "0000692699" "00024115" "30" "6784" "-19" "6784" "-19" "c.6784-19C>A" "r.(=)" "p.(=)" "" "" "" "0000692699" "00025282" "30" "6799" "-14" "6799" "-14" "c.6799-14C>A" "r.(=)" "p.(=)" "" "" "" "0000692700" "00024115" "30" "6016" "0" "6016" "0" "c.6016G>A" "r.(?)" "p.(Ala2006Thr)" "" "" "" "0000692700" "00025282" "30" "6031" "0" "6031" "0" "c.6031G>A" "r.(?)" "p.(Ala2011Thr)" "" "" "" "0000692701" "00024115" "50" "4254" "-5" "4254" "-5" "c.4254-5G>A" "r.spl?" "p.?" "" "" "" "0000692701" "00025282" "50" "4263" "-5" "4263" "-5" "c.4263-5G>A" "r.spl?" "p.?" "" "" "" "0000692702" "00024115" "70" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Cys)" "" "" "" "0000692702" "00025282" "70" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Cys)" "" "" "" "0000692703" "00024115" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "" "" "0000692703" "00025282" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "" "" "0000692704" "00024115" "30" "784" "10" "784" "10" "c.784+10C>T" "r.(=)" "p.(=)" "" "" "" "0000692704" "00025282" "30" "784" "10" "784" "10" "c.784+10C>T" "r.(=)" "p.(=)" "" "" "" "0000692705" "00024115" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Ter)" "" "" "" "0000692705" "00025282" "90" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Ter)" "" "" "" "0000698822" "00024115" "50" "2261" "0" "2261" "0" "c.2261C>T" "r.(?)" "p.(Ala754Val)" "" "" "" "0000708282" "00024115" "50" "260" "0" "260" "0" "c.260T>A" "r.(?)" "p.(Val87Glu)" "1" "" "" "0000708282" "00025282" "50" "260" "0" "260" "0" "c.260T>A" "r.(?)" "p.(Val87Glu)" "" "" "" "0000711667" "00024115" "70" "899" "0" "899" "0" "c.899A>C" "r.(?)" "p.(Gln300Pro)" "" "" "" "0000714753" "00024115" "50" "6754" "0" "6754" "0" "c.6754G>A" "r.(?)" "p.(Glu2252Lys)" "" "" "" "0000727152" "00024115" "30" "7050" "0" "7050" "0" "c.*264G>A" "r.(=)" "p.(=)" "" "" "" "0000727152" "00025282" "30" "7070" "0" "7070" "0" "c.7070G>A" "r.(?)" "p.(Gly2357Glu)" "" "" "" "0000727153" "00024115" "30" "6411" "0" "6411" "0" "c.6411C>T" "r.(?)" "p.(Asp2137=)" "" "" "" "0000727153" "00025282" "30" "6426" "0" "6426" "0" "c.6426C>T" "r.(?)" "p.(Asp2142=)" "" "" "" "0000727154" "00024115" "30" "6403" "0" "6403" "0" "c.6403C>T" "r.(?)" "p.(Arg2135Cys)" "" "" "" "0000727154" "00025282" "30" "6418" "0" "6418" "0" "c.6418C>T" "r.(?)" "p.(Arg2140Cys)" "" "" "" "0000727155" "00024115" "30" "5628" "1285" "5628" "1285" "c.5628+1285G>A" "r.(=)" "p.(=)" "" "" "" "0000727155" "00025282" "30" "5643" "17" "5643" "17" "c.5643+17G>A" "r.(=)" "p.(=)" "" "" "" "0000727156" "00024115" "70" "5396" "0" "5396" "0" "c.5396C>T" "r.(?)" "p.(Ser1799Leu)" "" "" "" "0000727156" "00025282" "70" "5411" "0" "5411" "0" "c.5411C>T" "r.(?)" "p.(Ser1804Leu)" "" "" "" "0000727157" "00024115" "50" "4930" "0" "4930" "0" "c.4930G>A" "r.(?)" "p.(Asp1644Asn)" "" "" "" "0000727157" "00025282" "50" "4939" "0" "4939" "0" "c.4939G>A" "r.(?)" "p.(Asp1647Asn)" "" "" "" "0000727158" "00024115" "30" "4635" "0" "4635" "0" "c.4635C>T" "r.(?)" "p.(Thr1545=)" "" "" "" "0000727158" "00025282" "30" "4644" "0" "4644" "0" "c.4644C>T" "r.(?)" "p.(Thr1548=)" "" "" "" "0000727159" "00024115" "70" "4177" "0" "4177" "0" "c.4177G>T" "r.(?)" "p.(Val1393Leu)" "" "" "" "0000727159" "00025282" "70" "4186" "0" "4186" "0" "c.4186G>T" "r.(?)" "p.(Val1396Leu)" "" "" "" "0000727161" "00024115" "50" "3825" "1" "3825" "1" "c.3825+1G>A" "r.spl?" "p.?" "" "" "" "0000727161" "00025282" "50" "3834" "1" "3834" "1" "c.3834+1G>A" "r.spl?" "p.?" "" "" "" "0000727162" "00024115" "50" "3529" "0" "3529" "0" "c.3529C>T" "r.(?)" "p.(Pro1177Ser)" "" "" "" "0000727162" "00025282" "50" "3538" "0" "3538" "0" "c.3538C>T" "r.(?)" "p.(Pro1180Ser)" "" "" "" "0000727163" "00024115" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Ala754Thr)" "" "" "" "0000727163" "00025282" "50" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Ala757Thr)" "" "" "" "0000727164" "00024115" "50" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544Gln)" "" "" "" "0000727164" "00025282" "50" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544Gln)" "" "" "" "0000727165" "00024115" "30" "1083" "-4" "1083" "-4" "c.1083-4C>G" "r.spl?" "p.?" "" "" "" "0000727165" "00025282" "30" "1083" "-4" "1083" "-4" "c.1083-4C>G" "r.spl?" "p.?" "" "" "" "0000732017" "00024115" "70" "1349" "-30" "2175" "83" "c.(?_1349-30)_(2175+83_?)del" "r.(?)" "p.(Ser451Argfs*55)" "10i_17i" "" "" "0000735242" "00024115" "70" "4897" "0" "4897" "0" "c.4897G>A" "r.(?)" "p.(Asp1633Asn)" "" "" "" "0000760937" "00024115" "50" "4882" "0" "4882" "0" "c.4882G>A" "r.(?)" "p.(Asp1628Asn)" "" "" "" "0000787215" "00024115" "50" "5398" "0" "5398" "0" "c.5398T>A" "r.(?)" "p.(Phe1800Ile)" "35" "" "" "0000787449" "00024115" "50" "2137" "0" "2137" "0" "c.2137G>C" "r.(?)" "p.(Ala713Pro)" "17" "" "" "0000788072" "00024115" "70" "2663" "0" "2663" "0" "c.2663A>T" "r.(?)" "p.(Gln888Leu)" "19" "" "" "0000789901" "00024115" "70" "1282" "0" "1282" "0" "c.1282del" "r.(?)" "p.(Ser429Alafs*18)" "" "" "" "0000789901" "00025282" "70" "1282" "0" "1282" "0" "c.1282del" "r.(?)" "p.(Ser429Alafs*18)" "" "" "" "0000795636" "00024115" "70" "997" "0" "997" "0" "c.997A>G" "r.(?)" "p.(Asn333Asp)" "" "" "" "0000808689" "00024115" "30" "6965" "0" "6973" "0" "c.*179_*187dup" "r.(=)" "p.(=)" "" "" "" "0000808689" "00025282" "30" "6985" "0" "6993" "0" "c.6985_6993dup" "r.(?)" "p.(Gln2329_Gln2331dup)" "" "" "" "0000808690" "00024115" "30" "6968" "0" "6973" "0" "c.*182_*187dup" "r.(=)" "p.(=)" "" "" "" "0000808690" "00025282" "30" "6988" "0" "6993" "0" "c.6988_6993dup" "r.(?)" "p.(Gln2330_Gln2331dup)" "" "" "" "0000808691" "00024115" "30" "6839" "0" "6839" "0" "c.*53C>T" "r.(=)" "p.(=)" "" "" "" "0000808691" "00025282" "30" "6859" "0" "6859" "0" "c.6859C>T" "r.(?)" "p.(Arg2287Trp)" "" "" "" "0000808692" "00024115" "50" "6779" "0" "6779" "0" "c.6779G>A" "r.(?)" "p.(Arg2260Gln)" "" "" "" "0000808692" "00025282" "50" "6794" "0" "6794" "0" "c.6794G>A" "r.(?)" "p.(Arg2265Gln)" "" "" "" "0000808693" "00024115" "30" "6342" "10" "6342" "10" "c.6342+10G>C" "r.(=)" "p.(=)" "" "" "" "0000808693" "00025282" "30" "6357" "10" "6357" "10" "c.6357+10G>C" "r.(=)" "p.(=)" "" "" "" "0000808694" "00024115" "30" "5940" "0" "5940" "0" "c.5940G>A" "r.(?)" "p.(Glu1980=)" "" "" "" "0000808694" "00025282" "30" "5955" "0" "5955" "0" "c.5955G>A" "r.(?)" "p.(Glu1985=)" "" "" "" "0000808695" "00024115" "50" "5846" "0" "5846" "0" "c.5846C>T" "r.(?)" "p.(Thr1949Met)" "" "" "" "0000808695" "00025282" "50" "5861" "0" "5861" "0" "c.5861C>T" "r.(?)" "p.(Thr1954Met)" "" "" "" "0000808696" "00024115" "70" "4991" "0" "4991" "0" "c.4991G>A" "r.(?)" "p.(Arg1664Gln)" "" "" "" "0000808696" "00025282" "70" "5006" "0" "5006" "0" "c.5006G>A" "r.(?)" "p.(Arg1669Gln)" "" "" "" "0000808697" "00024115" "50" "4690" "0" "4690" "0" "c.4690G>T" "r.(?)" "p.(Val1564Leu)" "" "" "" "0000808697" "00025282" "50" "4699" "0" "4699" "0" "c.4699G>T" "r.(?)" "p.(Val1567Leu)" "" "" "" "0000808698" "00024115" "30" "4314" "0" "4314" "0" "c.4314G>A" "r.(?)" "p.(Lys1438=)" "" "" "" "0000808698" "00025282" "30" "4323" "0" "4323" "0" "c.4323G>A" "r.(?)" "p.(Lys1441=)" "" "" "" "0000808699" "00024115" "90" "3840" "0" "3840" "0" "c.3840dup" "r.(?)" "p.(Asp1281*)" "" "" "" "0000808699" "00025282" "90" "3849" "0" "3849" "0" "c.3849dup" "r.(?)" "p.(Asp1284*)" "" "" "" "0000808700" "00024115" "30" "3550" "0" "3550" "0" "c.3550G>A" "r.(?)" "p.(Val1184Ile)" "" "" "" "0000808700" "00025282" "30" "3559" "0" "3559" "0" "c.3559G>A" "r.(?)" "p.(Val1187Ile)" "" "" "" "0000808701" "00024115" "30" "3246" "0" "3246" "0" "c.3246C>G" "r.(?)" "p.(Pro1082=)" "" "" "" "0000808701" "00025282" "30" "3255" "0" "3255" "0" "c.3255C>G" "r.(?)" "p.(Pro1085=)" "" "" "" "0000808702" "00024115" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Gly683=)" "" "" "" "0000808702" "00025282" "30" "2049" "0" "2049" "0" "c.2049C>T" "r.(?)" "p.(Gly683=)" "" "" "" "0000808703" "00024115" "70" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Gly682Trp)" "" "" "" "0000808703" "00025282" "70" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Gly682Trp)" "" "" "" "0000808704" "00024115" "30" "1679" "0" "1679" "0" "c.1679T>C" "r.(?)" "p.(Ile560Thr)" "" "" "" "0000808704" "00025282" "30" "1679" "0" "1679" "0" "c.1679T>C" "r.(?)" "p.(Ile560Thr)" "" "" "" "0000808705" "00024115" "50" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Glu513Lys)" "" "" "" "0000808705" "00025282" "50" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Glu513Lys)" "" "" "" "0000808706" "00024115" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "" "" "0000808706" "00025282" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Ser457=)" "" "" "" "0000808707" "00024115" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Phe453=)" "" "" "" "0000808707" "00025282" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Phe453=)" "" "" "" "0000831074" "00024115" "70" "4273" "0" "4273" "0" "c.4273G>T" "r.(?)" "p.(Glu1425*)" "" "" "" "0000839931" "00024115" "50" "1006" "0" "1006" "0" "c.1006A>T" "r.(?)" "p.(Asn336Tyr)" "" "" "" "0000839931" "00025282" "50" "1006" "0" "1006" "0" "c.1006A>T" "r.(?)" "p.(Asn336Tyr)" "" "" "" "0000855453" "00024115" "50" "6269" "0" "6269" "0" "c.6269G>A" "r.(?)" "p.(Arg2090Gln)" "" "" "" "0000855453" "00025282" "50" "6284" "0" "6284" "0" "c.6284G>A" "r.(?)" "p.(Arg2095Gln)" "" "" "" "0000855454" "00024115" "50" "6196" "0" "6196" "0" "c.6196G>C" "r.(?)" "p.(Val2066Leu)" "" "" "" "0000855454" "00025282" "50" "6211" "0" "6211" "0" "c.6211G>C" "r.(?)" "p.(Val2071Leu)" "" "" "" "0000855455" "00024115" "30" "5989" "0" "5989" "0" "c.5989A>G" "r.(?)" "p.(Thr1997Ala)" "" "" "" "0000855455" "00025282" "30" "6004" "0" "6004" "0" "c.6004A>G" "r.(?)" "p.(Thr2002Ala)" "" "" "" "0000855456" "00024115" "90" "5455" "0" "5455" "0" "c.5455C>T" "r.(?)" "p.(Arg1819*)" "" "" "" "0000855456" "00025282" "90" "5470" "0" "5470" "0" "c.5470C>T" "r.(?)" "p.(Arg1824*)" "" "" "" "0000855457" "00024115" "70" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Trp1683*)" "" "" "" "0000855457" "00025282" "70" "5063" "0" "5063" "0" "c.5063G>A" "r.(?)" "p.(Trp1688*)" "" "" "" "0000855458" "00024115" "90" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Arg1661His)" "" "" "" "0000855458" "00025282" "90" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666His)" "" "" "" "0000855459" "00024115" "50" "4741" "0" "4741" "0" "c.4741A>G" "r.(?)" "p.(Ile1581Val)" "" "" "" "0000855459" "00025282" "50" "4750" "0" "4750" "0" "c.4750A>G" "r.(?)" "p.(Ile1584Val)" "" "" "" "0000855460" "00024115" "30" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(Pro1104=)" "" "" "" "0000855460" "00025282" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Pro1107=)" "" "" "" "0000865875" "00024115" "30" "7429" "0" "7429" "0" "c.*643C>T" "r.(=)" "p.(=)" "" "" "" "0000865875" "00025282" "30" "7449" "0" "7449" "0" "c.7449C>T" "r.(?)" "p.(Tyr2483=)" "" "" "" "0000865876" "00024115" "30" "7363" "0" "7363" "0" "c.*577C>A" "r.(=)" "p.(=)" "" "" "" "0000865876" "00025282" "30" "7383" "0" "7383" "0" "c.7383C>A" "r.(?)" "p.(Pro2461=)" "" "" "" "0000865877" "00024115" "30" "6972" "0" "6974" "0" "c.*186_*188dup" "r.(=)" "p.(=)" "" "" "" "0000865877" "00025282" "30" "6992" "0" "6994" "0" "c.6992_6994dup" "r.(?)" "p.(Gln2331_Ala2332insGlu)" "" "" "" "0000865878" "00024115" "30" "6962" "0" "6973" "0" "c.*176_*187del" "r.(=)" "p.(=)" "" "" "" "0000865878" "00025282" "30" "6982" "0" "6993" "0" "c.6982_6993del" "r.(?)" "p.(Gln2328_Gln2331del)" "" "" "" "0000865879" "00024115" "30" "6968" "0" "6973" "0" "c.*182_*187dup" "r.(=)" "p.(=)" "" "" "" "0000865879" "00025282" "30" "6988" "0" "6993" "0" "c.6988_6993dup" "r.(?)" "p.(Gln2330_Gln2331dup)" "" "" "" "0000865880" "00024115" "30" "6920" "0" "6920" "0" "c.*134G>A" "r.(=)" "p.(=)" "" "" "" "0000865880" "00025282" "30" "6940" "0" "6940" "0" "c.6940G>A" "r.(?)" "p.(Gly2314Ser)" "" "" "" "0000865881" "00024115" "10" "6835" "0" "6835" "0" "c.*49G>A" "r.(=)" "p.(=)" "" "" "" "0000865881" "00025282" "10" "6855" "0" "6855" "0" "c.6855G>A" "r.(?)" "p.(Pro2285=)" "" "" "" "0000865882" "00024115" "50" "6778" "0" "6778" "0" "c.6778C>T" "r.(?)" "p.(Arg2260Trp)" "" "" "" "0000865882" "00025282" "50" "6793" "0" "6793" "0" "c.6793C>T" "r.(?)" "p.(Arg2265Trp)" "" "" "" "0000865883" "00024115" "30" "6661" "0" "6662" "0" "c.6661_6662insACC" "r.(?)" "p.(His2220dup)" "" "" "" "0000865883" "00025282" "30" "6676" "0" "6677" "0" "c.6676_6677insACC" "r.(?)" "p.(His2225dup)" "" "" "" "0000865884" "00024115" "50" "6647" "0" "6647" "0" "c.6647A>C" "r.(?)" "p.(His2216Pro)" "" "" "" "0000865884" "00025282" "50" "6662" "0" "6662" "0" "c.6662A>C" "r.(?)" "p.(His2221Pro)" "" "" "" "0000865885" "00024115" "10" "6345" "0" "6345" "0" "c.6345C>G" "r.(?)" "p.(Thr2115=)" "" "" "" "0000865885" "00025282" "10" "6360" "0" "6360" "0" "c.6360C>G" "r.(?)" "p.(Thr2120=)" "" "" "" "0000865886" "00024115" "50" "5943" "5" "5943" "5" "c.5943+5G>A" "r.spl?" "p.?" "" "" "" "0000865886" "00025282" "50" "5958" "5" "5958" "5" "c.5958+5G>A" "r.spl?" "p.?" "" "" "" "0000865887" "00024115" "50" "4637" "0" "4637" "0" "c.4637G>A" "r.(?)" "p.(Arg1546Gln)" "" "" "" "0000865887" "00025282" "50" "4646" "0" "4646" "0" "c.4646G>A" "r.(?)" "p.(Arg1549Gln)" "" "" "" "0000865888" "00024115" "50" "4174" "0" "4174" "0" "c.4174G>A" "r.(?)" "p.(Ala1392Thr)" "" "" "" "0000865888" "00025282" "50" "4183" "0" "4183" "0" "c.4183G>A" "r.(?)" "p.(Ala1395Thr)" "" "" "" "0000865889" "00024115" "30" "3948" "0" "3948" "0" "c.3948C>T" "r.(?)" "p.(Leu1316=)" "" "" "" "0000865889" "00025282" "30" "3957" "0" "3957" "0" "c.3957C>T" "r.(?)" "p.(Leu1319=)" "" "" "" "0000865890" "00024115" "10" "3549" "0" "3549" "0" "c.3549C>T" "r.(?)" "p.(Val1183=)" "" "" "" "0000865890" "00025282" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Val1186=)" "" "" "" "0000865891" "00024115" "30" "3031" "0" "3031" "0" "c.3031C>G" "r.(?)" "p.(Pro1011Ala)" "" "" "" "0000865891" "00025282" "30" "3040" "0" "3040" "0" "c.3040C>G" "r.(?)" "p.(Pro1014Ala)" "" "" "" "0000865892" "00024115" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Pro986=)" "" "" "" "0000865892" "00025282" "30" "2967" "0" "2967" "0" "c.2967G>C" "r.(?)" "p.(Pro989=)" "" "" "" "0000865893" "00024115" "30" "2847" "0" "2847" "0" "c.2847C>G" "r.(?)" "p.(Arg949=)" "" "" "" "0000865893" "00025282" "30" "2856" "0" "2856" "0" "c.2856C>G" "r.(?)" "p.(Arg952=)" "" "" "" "0000865894" "00024115" "90" "2816" "0" "2816" "0" "c.2816dup" "r.(?)" "p.(Ser940Glnfs*128)" "" "" "" "0000865894" "00025282" "90" "2825" "0" "2825" "0" "c.2825dup" "r.(?)" "p.(Ser943Glnfs*128)" "" "" "" "0000865895" "00024115" "50" "2108" "-2" "2108" "-2" "c.2108-2A>G" "r.spl?" "p.?" "" "" "" "0000865895" "00025282" "50" "2108" "-2" "2108" "-2" "c.2108-2A>G" "r.spl?" "p.?" "" "" "" "0000865896" "00024115" "30" "1785" "-20" "1785" "-20" "c.1785-20C>T" "r.(=)" "p.(=)" "" "" "" "0000865896" "00025282" "30" "1785" "-20" "1785" "-20" "c.1785-20C>T" "r.(=)" "p.(=)" "" "" "" "0000865897" "00024115" "30" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000865897" "00025282" "30" "1779" "0" "1779" "0" "c.1779C>G" "r.(?)" "p.(Val593=)" "" "" "" "0000865898" "00024115" "30" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "" "" "0000865898" "00025282" "30" "1629" "0" "1629" "0" "c.1629G>A" "r.(?)" "p.(Thr543=)" "" "" "" "0000865899" "00024115" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000865899" "00025282" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0000865900" "00024115" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Phe453=)" "" "" "" "0000865900" "00025282" "30" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Phe453=)" "" "" "" "0000865901" "00024115" "30" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000865901" "00025282" "30" "1348" "7" "1348" "7" "c.1348+7C>T" "r.(=)" "p.(=)" "" "" "" "0000865902" "00024115" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000865902" "00025282" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Thr193=)" "" "" "" "0000865903" "00024115" "70" "112" "0" "127" "0" "c.112_127dup" "r.(?)" "p.(Gly43Alafs*38)" "" "" "" "0000865903" "00025282" "70" "112" "0" "127" "0" "c.112_127dup" "r.(?)" "p.(Gly43Alafs*38)" "" "" "" "0000873083" "00025282" "00" "" "" "" "" "" "" "" "" "" "" "0000894797" "00024115" "10" "6956" "0" "6973" "0" "c.*170_*187del" "r.(=)" "p.(=)" "" "" "" "0000894797" "00025282" "10" "6976" "0" "6993" "0" "c.6976_6993del" "r.(?)" "p.(Gln2326_Gln2331del)" "" "" "" "0000894798" "00024115" "50" "6779" "0" "6779" "0" "c.6779G>A" "r.(?)" "p.(Arg2260Gln)" "" "" "" "0000894798" "00025282" "50" "6794" "0" "6794" "0" "c.6794G>A" "r.(?)" "p.(Arg2265Gln)" "" "" "" "0000894799" "00024115" "50" "6746" "0" "6746" "0" "c.6746C>T" "r.(?)" "p.(Ser2249Leu)" "" "" "" "0000894799" "00025282" "50" "6761" "0" "6761" "0" "c.6761C>T" "r.(?)" "p.(Ser2254Leu)" "" "" "" "0000894800" "00024115" "10" "6728" "0" "6728" "0" "c.6728A>G" "r.(?)" "p.(Asp2243Gly)" "" "" "" "0000894800" "00025282" "10" "6743" "0" "6743" "0" "c.6743A>G" "r.(?)" "p.(Asp2248Gly)" "" "" "" "0000894801" "00024115" "10" "6660" "0" "6660" "0" "c.6660T>C" "r.(?)" "p.(His2220=)" "" "" "" "0000894801" "00025282" "10" "6675" "0" "6675" "0" "c.6675T>C" "r.(?)" "p.(His2225=)" "" "" "" "0000894802" "00024115" "30" "6381" "0" "6381" "0" "c.6381C>T" "r.(?)" "p.(Ser2127=)" "" "" "" "0000894802" "00025282" "30" "6396" "0" "6396" "0" "c.6396C>T" "r.(?)" "p.(Ser2132=)" "" "" "" "0000894803" "00024115" "70" "5251" "0" "5251" "0" "c.5251C>T" "r.(?)" "p.(Arg1751Trp)" "" "" "" "0000894803" "00025282" "70" "5266" "0" "5266" "0" "c.5266C>T" "r.(?)" "p.(Arg1756Trp)" "" "" "" "0000894804" "00024115" "30" "4879" "0" "4879" "0" "c.4879C>T" "r.(?)" "p.(Arg1627Cys)" "" "" "" "0000894804" "00025282" "30" "4888" "0" "4888" "0" "c.4888C>T" "r.(?)" "p.(Arg1630Cys)" "" "" "" "0000894805" "00024115" "30" "4870" "-4" "4870" "-4" "c.4870-4C>T" "r.spl?" "p.?" "" "" "" "0000894805" "00025282" "30" "4879" "-4" "4879" "-4" "c.4879-4C>T" "r.spl?" "p.?" "" "" "" "0000894806" "00024115" "90" "4636" "0" "4636" "0" "c.4636C>T" "r.(?)" "p.(Arg1546Ter)" "" "" "" "0000894806" "00025282" "90" "4645" "0" "4645" "0" "c.4645C>T" "r.(?)" "p.(Arg1549Ter)" "" "" "" "0000894807" "00024115" "90" "4253" "0" "4253" "0" "c.4253G>A" "r.(?)" "p.(Arg1418Gln)" "" "" "" "0000894807" "00025282" "90" "4262" "0" "4262" "0" "c.4262G>A" "r.(?)" "p.(Arg1421Gln)" "" "" "" "0000894808" "00024115" "90" "3992" "1" "3992" "1" "c.3992+1G>A" "r.spl?" "p.?" "" "" "" "0000894808" "00025282" "90" "4001" "1" "4001" "1" "c.4001+1G>A" "r.spl?" "p.?" "" "" "" "0000894809" "00024115" "50" "3959" "0" "3959" "0" "c.3959T>G" "r.(?)" "p.(Val1320Gly)" "" "" "" "0000894809" "00025282" "50" "3968" "0" "3968" "0" "c.3968T>G" "r.(?)" "p.(Val1323Gly)" "" "" "" "0000894810" "00024115" "50" "3959" "0" "3959" "0" "c.3959T>G" "r.(?)" "p.(Val1320Gly)" "" "" "" "0000894810" "00025282" "50" "3968" "0" "3968" "0" "c.3968T>G" "r.(?)" "p.(Val1323Gly)" "" "" "" "0000894811" "00024115" "30" "3473" "0" "3473" "0" "c.3473C>T" "r.(?)" "p.(Ala1158Val)" "" "" "" "0000894811" "00025282" "30" "3482" "0" "3482" "0" "c.3482C>T" "r.(?)" "p.(Ala1161Val)" "" "" "" "0000894812" "00024115" "30" "2870" "0" "2870" "0" "c.2870G>T" "r.(?)" "p.(Arg957Leu)" "" "" "" "0000894812" "00025282" "30" "2879" "0" "2879" "0" "c.2879G>T" "r.(?)" "p.(Arg960Leu)" "" "" "" "0000894813" "00024115" "70" "1868" "0" "1868" "0" "c.1868T>A" "r.(?)" "p.(Leu623Gln)" "" "" "" "0000894813" "00025282" "70" "1868" "0" "1868" "0" "c.1868T>A" "r.(?)" "p.(Leu623Gln)" "" "" "" "0000894814" "00024115" "30" "1785" "-6" "1785" "-6" "c.1785-6C>T" "r.(=)" "p.(=)" "" "" "" "0000894814" "00025282" "30" "1785" "-6" "1785" "-6" "c.1785-6C>T" "r.(=)" "p.(=)" "" "" "" "0000894815" "00024115" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Ile567=)" "" "" "" "0000894815" "00025282" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Ile567=)" "" "" "" "0000894816" "00024115" "70" "1028" "0" "1028" "0" "c.1028del" "r.(?)" "p.(Leu343Profs*10)" "" "" "" "0000894816" "00025282" "70" "1028" "0" "1028" "0" "c.1028del" "r.(?)" "p.(Leu343Profs*10)" "" "" "" "0000894817" "00024115" "50" "906" "0" "906" "0" "c.906C>A" "r.(?)" "p.(Asp302Glu)" "" "" "" "0000894817" "00025282" "50" "906" "0" "906" "0" "c.906C>A" "r.(?)" "p.(Asp302Glu)" "" "" "" "0000894818" "00024115" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "" "" "" "0000894818" "00025282" "50" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "" "" "" "0000908538" "00024115" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "" "" "" "0000915136" "00024115" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107Gln)" "" "" "" "0000915136" "00025282" "50" "6335" "0" "6335" "0" "c.6335G>A" "r.(?)" "p.(Arg2112Gln)" "" "" "" "0000915137" "00024115" "50" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Asp2074Asn)" "" "" "" "0000915137" "00025282" "50" "6235" "0" "6235" "0" "c.6235G>A" "r.(?)" "p.(Asp2079Asn)" "" "" "" "0000915138" "00024115" "30" "6129" "0" "6129" "0" "c.6129G>A" "r.(?)" "p.(Thr2043=)" "" "" "" "0000915138" "00025282" "30" "6144" "0" "6144" "0" "c.6144G>A" "r.(?)" "p.(Thr2048=)" "" "" "" "0000915139" "00024115" "70" "4594" "-1" "4594" "-1" "c.4594-1G>A" "r.spl?" "p.?" "" "" "" "0000915139" "00025282" "70" "4603" "-1" "4603" "-1" "c.4603-1G>A" "r.spl?" "p.?" "" "" "" "0000915140" "00024115" "30" "3413" "0" "3413" "0" "c.3413C>A" "r.(?)" "p.(Pro1138His)" "" "" "" "0000915140" "00025282" "30" "3422" "0" "3422" "0" "c.3422C>A" "r.(?)" "p.(Pro1141His)" "" "" "" "0000915142" "00024115" "50" "638" "0" "638" "0" "c.638A>T" "r.(?)" "p.(Gln213Leu)" "" "" "" "0000915142" "00025282" "50" "638" "0" "638" "0" "c.638A>T" "r.(?)" "p.(Gln213Leu)" "" "" "" "0000921072" "00024115" "70" "3411" "0" "3411" "0" "c.3411dup" "r.(?)" "p.(Lys1139Glnfs*6)" "" "" "" "0000921857" "00024115" "90" "2566" "0" "2566" "0" "c.2566G>T" "r.(?)" "p.(Glu856Ter)" "" "" "" "0000926817" "00024115" "90" "5588" "0" "5589" "0" "c.5588_5589del" "r.(?)" "p.(Leu1863Argfs*9)" "" "" "" "0000926817" "00025282" "90" "5547" "-1212" "5547" "-1211" "c.5547-1212_5547-1211del" "r.(=)" "p.(=)" "" "" "" "0000926818" "00024115" "90" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Trp)" "" "" "" "0000926818" "00025282" "90" "5014" "0" "5014" "0" "c.5014C>T" "r.(?)" "p.(Arg1672Trp)" "" "" "" "0000926819" "00024115" "90" "3566" "0" "3566" "0" "c.3566del" "r.(?)" "p.(Asn1189Thrfs*53)" "" "" "" "0000926819" "00025282" "90" "3575" "0" "3575" "0" "c.3575del" "r.(?)" "p.(Asn1192Thrfs*53)" "" "" "" "0000926820" "00024115" "30" "3534" "0" "3534" "0" "c.3534C>G" "r.(?)" "p.(Pro1178=)" "" "" "" "0000926820" "00025282" "30" "3543" "0" "3543" "0" "c.3543C>G" "r.(?)" "p.(Pro1181=)" "" "" "" "0000926821" "00024115" "30" "1784" "18" "1784" "18" "c.1784+18C>A" "r.(=)" "p.(=)" "" "" "" "0000926821" "00025282" "30" "1784" "18" "1784" "18" "c.1784+18C>A" "r.(=)" "p.(=)" "" "" "" "0000926822" "00024115" "70" "293" "3" "293" "3" "c.293+3A>C" "r.spl?" "p.?" "" "" "" "0000926822" "00025282" "70" "293" "3" "293" "3" "c.293+3A>C" "r.spl?" "p.?" "" "" "" "0000931005" "00024115" "30" "6193" "-3" "6193" "-3" "c.6193-3C>T" "r.spl?" "p.?" "" "" "" "0000931005" "00025282" "30" "6208" "-3" "6208" "-3" "c.6208-3C>T" "r.spl?" "p.?" "" "" "" "0000931006" "00024115" "30" "6193" "-3" "6193" "-3" "c.6193-3C>A" "r.spl?" "p.?" "" "" "" "0000931006" "00025282" "30" "6208" "-3" "6208" "-3" "c.6208-3C>A" "r.spl?" "p.?" "" "" "" "0000931007" "00024115" "50" "3749" "0" "3749" "0" "c.3749T>A" "r.(?)" "p.(Ile1250Asn)" "" "" "" "0000931007" "00025282" "50" "3758" "0" "3758" "0" "c.3758T>A" "r.(?)" "p.(Ile1253Asn)" "" "" "" "0000931008" "00024115" "30" "539" "17" "539" "17" "c.539+17A>G" "r.(=)" "p.(=)" "" "" "" "0000931008" "00025282" "30" "539" "17" "539" "17" "c.539+17A>G" "r.(=)" "p.(=)" "" "" "" "0000931009" "00024115" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Ala154=)" "" "" "" "0000931009" "00025282" "30" "462" "0" "462" "0" "c.462C>T" "r.(?)" "p.(Ala154=)" "" "" "" "0000931790" "00024115" "50" "3607" "0" "3609" "0" "c.3607_3609del" "r.(?)" "p.(Lys1203del)" "" "" "" "0000931790" "00025282" "50" "3616" "0" "3618" "0" "c.3616_3618del" "r.(?)" "p.(Lys1206del)" "" "" "" "0000935905" "00024115" "90" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Met)" "" "" "" "0000935905" "00025282" "90" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "" "" "0000935959" "00024115" "70" "5047" "0" "5047" "0" "c.5047T>C" "r.(?)" "p.(Trp1683Arg)" "" "" "" "0000935959" "00025282" "70" "5062" "0" "5062" "0" "c.5062T>C" "r.(?)" "p.(Trp1688Arg)" "" "" "" "0000936354" "00024115" "90" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "" "" "" "0000936354" "00025282" "90" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Ala713Thr)" "" "" "" "0000936370" "00024115" "70" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Met)" "" "" "" "0000936370" "00025282" "70" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "" "" "0000946122" "00024115" "50" "5142" "0" "5142" "0" "c.5142T>A" "r.(?)" "p.(Phe1714Leu)" "" "" "" "0000946122" "00025282" "50" "5157" "0" "5157" "0" "c.5157T>A" "r.(?)" "p.(Phe1719Leu)" "" "" "" "0000951219" "00024115" "70" "5252" "0" "5252" "0" "c.5252G>A" "r.(?)" "p.(Arg1751Gln)" "" "" "" "0000951219" "00025282" "70" "5267" "0" "5267" "0" "c.5267G>A" "r.(?)" "p.(Arg1756Gln)" "" "" "" "0000951220" "00024115" "30" "3412" "0" "3412" "0" "c.3412C>G" "r.(?)" "p.(Pro1138Ala)" "" "" "" "0000951220" "00025282" "30" "3421" "0" "3421" "0" "c.3421C>G" "r.(?)" "p.(Pro1141Ala)" "" "" "" "0000951222" "00024115" "30" "1038" "0" "1038" "0" "c.1038C>T" "r.(?)" "p.(=)" "" "" "" "0000951222" "00025282" "30" "1038" "0" "1038" "0" "c.1038C>T" "r.(?)" "p.(=)" "" "" "" "0000969570" "00024115" "30" "7264" "0" "7269" "0" "c.*478_*483del" "r.(=)" "p.(=)" "" "" "" "0000969570" "00025282" "30" "7284" "0" "7289" "0" "c.7284_7289del" "r.(?)" "p.(Ser2429_Gly2430del)" "" "" "" "0000969579" "00024115" "50" "6497" "0" "6497" "0" "c.6497G>A" "r.(?)" "p.(Arg2166His)" "" "" "" "0000969579" "00025282" "50" "6512" "0" "6512" "0" "c.6512G>A" "r.(?)" "p.(Arg2171His)" "" "" "" "0000969581" "00024115" "90" "5428" "0" "5428" "0" "c.5428A>C" "r.(?)" "p.(Ile1810Leu)" "" "" "" "0000969581" "00025282" "90" "5443" "0" "5443" "0" "c.5443A>C" "r.(?)" "p.(Ile1815Leu)" "" "" "" "0000969582" "00024115" "50" "5403" "5" "5403" "5" "c.5403+5G>C" "r.spl?" "p.?" "" "" "" "0000969582" "00025282" "50" "5418" "5" "5418" "5" "c.5418+5G>C" "r.spl?" "p.?" "" "" "" "0000969583" "00024115" "90" "4329" "0" "4329" "0" "c.4329C>A" "r.(?)" "p.(Tyr1443*)" "" "" "" "0000969583" "00025282" "90" "4338" "0" "4338" "0" "c.4338C>A" "r.(?)" "p.(Tyr1446*)" "" "" "" "0000969587" "00024115" "10" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000969587" "00025282" "10" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Tyr539=)" "" "" "" "0000969588" "00024115" "70" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Cys)" "" "" "" "0000969588" "00025282" "70" "1429" "0" "1429" "0" "c.1429C>T" "r.(?)" "p.(Arg477Cys)" "" "" "" "0000983224" "00024115" "50" "8096" "0" "8096" "0" "c.*1310C>T" "r.(=)" "p.(=)" "" "" "" "0000983224" "00025282" "50" "8116" "0" "8116" "0" "c.*577C>T" "r.(=)" "p.(=)" "" "" "" "0000983225" "00024115" "30" "7456" "0" "7456" "0" "c.*670C>T" "r.(=)" "p.(=)" "" "" "" "0000983225" "00025282" "30" "7476" "0" "7476" "0" "c.7476C>T" "r.(?)" "p.(=)" "" "" "" "0000983226" "00024115" "30" "7008" "0" "7008" "0" "c.*222G>A" "r.(=)" "p.(=)" "" "" "" "0000983226" "00025282" "30" "7028" "0" "7028" "0" "c.7028G>A" "r.(?)" "p.(Gly2343Asp)" "" "" "" "0000983227" "00024115" "30" "6659" "0" "6659" "0" "c.6659A>C" "r.(?)" "p.(His2220Pro)" "" "" "" "0000983227" "00025282" "30" "6674" "0" "6674" "0" "c.6674A>C" "r.(?)" "p.(His2225Pro)" "" "" "" "0000983228" "00024115" "30" "5843" "-14" "5843" "-14" "c.5843-14G>A" "r.(=)" "p.(=)" "" "" "" "0000983228" "00025282" "30" "5858" "-14" "5858" "-14" "c.5858-14G>A" "r.(=)" "p.(=)" "" "" "" "0000983229" "00024115" "50" "5759" "0" "5759" "0" "c.5759A>T" "r.(?)" "p.(Asp1920Val)" "" "" "" "0000983229" "00025282" "50" "5774" "0" "5774" "0" "c.5774A>T" "r.(?)" "p.(Asp1925Val)" "" "" "" "0000983230" "00024115" "30" "5191" "0" "5191" "0" "c.5191T>C" "r.(?)" "p.(Phe1731Leu)" "" "" "" "0000983230" "00025282" "30" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Phe1736Leu)" "" "" "" "0000983231" "00024115" "30" "3948" "0" "3948" "0" "c.3948C>T" "r.(?)" "p.(Leu1316=)" "" "" "" "0000983231" "00025282" "30" "3957" "0" "3957" "0" "c.3957C>T" "r.(?)" "p.(Leu1319=)" "" "" "" "0000983232" "00024115" "50" "2902" "0" "2902" "0" "c.2902G>A" "r.(?)" "p.(Glu968Lys)" "" "" "" "0000983232" "00025282" "50" "2911" "0" "2911" "0" "c.2911G>A" "r.(?)" "p.(Glu971Lys)" "" "" "" "0000983233" "00024115" "50" "2855" "0" "2855" "0" "c.2855C>T" "r.(?)" "p.(Ala952Val)" "" "" "" "0000983233" "00025282" "50" "2864" "0" "2864" "0" "c.2864C>T" "r.(?)" "p.(Ala955Val)" "" "" "" "0000983234" "00024115" "30" "1785" "-6" "1785" "-6" "c.1785-6C>T" "r.(=)" "p.(=)" "" "" "" "0000983234" "00025282" "30" "1785" "-6" "1785" "-6" "c.1785-6C>T" "r.(=)" "p.(=)" "" "" "" "0000983235" "00024115" "30" "979" "-2038" "979" "-2038" "c.979-2038G>A" "r.(=)" "p.(=)" "" "" "" "0000983235" "00025282" "30" "979" "-2038" "979" "-2038" "c.979-2038G>A" "r.(=)" "p.(=)" "" "" "" "0000985200" "00024115" "90" "4503" "0" "4505" "0" "c.4503_4505del" "r.(?)" "p.(Phe1502del)" "28" "" "" "0000985288" "00024115" "90" "6400" "0" "6400" "0" "c.6400C>T" "r.(?)" "p.(Arg2134*)" "45" "" "" "0000985381" "00024115" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Arg)" "6" "" "" "0000985381" "00025282" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Arg)" "" "" "" "0000988415" "00024115" "70" "5102" "0" "5102" "0" "c.5102T>G" "r.(?)" "p.(Met1701Arg)" "" "" "" "0001004381" "00024115" "30" "7364" "0" "7364" "0" "c.*578C>G" "r.(=)" "p.(=)" "" "" "" "0001004381" "00025282" "30" "7384" "0" "7384" "0" "c.7384C>G" "r.(?)" "p.(Arg2462Gly)" "" "" "" "0001004382" "00024115" "50" "7125" "0" "7125" "0" "c.*339G>A" "r.(=)" "p.(=)" "" "" "" "0001004382" "00025282" "50" "7145" "0" "7145" "0" "c.7145G>A" "r.(?)" "p.(Arg2382Gln)" "" "" "" "0001004383" "00024115" "50" "6958" "0" "6959" "0" "c.*172_*173del" "r.(=)" "p.(=)" "" "" "" "0001004383" "00025282" "50" "6978" "0" "6979" "0" "c.6978_6979del" "r.(?)" "p.(Gln2327Alafs*181)" "" "" "" "0001004384" "00024115" "30" "6965" "0" "6973" "0" "c.*179_*187del" "r.(=)" "p.(=)" "" "" "" "0001004384" "00025282" "30" "6985" "0" "6993" "0" "c.6985_6993del" "r.(?)" "p.(Gln2329_Gln2331del)" "" "" "" "0001004385" "00024115" "30" "6618" "0" "6626" "0" "c.6618_6626dup" "r.(?)" "p.(Lys2207_Arg2209dup)" "" "" "" "0001004385" "00025282" "30" "6633" "0" "6641" "0" "c.6633_6641dup" "r.(?)" "p.(Lys2212_Arg2214dup)" "" "" "" "0001004386" "00024115" "30" "6586" "0" "6586" "0" "c.6586C>T" "r.(?)" "p.(Arg2196Trp)" "" "" "" "0001004386" "00025282" "30" "6601" "0" "6601" "0" "c.6601C>T" "r.(?)" "p.(Arg2201Trp)" "" "" "" "0001004387" "00024115" "30" "6575" "0" "6575" "0" "c.6575C>T" "r.(?)" "p.(Pro2192Leu)" "" "" "" "0001004387" "00025282" "30" "6590" "0" "6590" "0" "c.6590C>T" "r.(?)" "p.(Pro2197Leu)" "" "" "" "0001004388" "00024115" "30" "6428" "0" "6428" "0" "c.6428G>A" "r.(?)" "p.(Arg2143Gln)" "" "" "" "0001004388" "00025282" "30" "6443" "0" "6443" "0" "c.6443G>A" "r.(?)" "p.(Arg2148Gln)" "" "" "" "0001004389" "00024115" "30" "6269" "0" "6269" "0" "c.6269G>A" "r.(?)" "p.(Arg2090Gln)" "" "" "" "0001004389" "00025282" "30" "6284" "0" "6284" "0" "c.6284G>A" "r.(?)" "p.(Arg2095Gln)" "" "" "" "0001004390" "00024115" "50" "6235" "0" "6235" "0" "c.6235A>G" "r.(?)" "p.(Ser2079Gly)" "" "" "" "0001004390" "00025282" "50" "6250" "0" "6250" "0" "c.6250A>G" "r.(?)" "p.(Ser2084Gly)" "" "" "" "0001004391" "00024115" "30" "6215" "0" "6215" "0" "c.6215G>T" "r.(?)" "p.(Gly2072Val)" "" "" "" "0001004391" "00025282" "30" "6230" "0" "6230" "0" "c.6230G>T" "r.(?)" "p.(Gly2077Val)" "" "" "" "0001004392" "00024115" "30" "6004" "0" "6004" "0" "c.6004C>T" "r.(?)" "p.(Pro2002Ser)" "" "" "" "0001004392" "00025282" "30" "6019" "0" "6019" "0" "c.6019C>T" "r.(?)" "p.(Pro2007Ser)" "" "" "" "0001004393" "00024115" "30" "5173" "0" "5173" "0" "c.5173G>A" "r.(?)" "p.(Asp1725Asn)" "" "" "" "0001004393" "00025282" "30" "5188" "0" "5188" "0" "c.5188G>A" "r.(?)" "p.(Asp1730Asn)" "" "" "" "0001004394" "00024115" "90" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Trp)" "" "" "" "0001004394" "00025282" "90" "5014" "0" "5014" "0" "c.5014C>T" "r.(?)" "p.(Arg1672Trp)" "" "" "" "0001004395" "00024115" "30" "4880" "0" "4880" "0" "c.4880G>A" "r.(?)" "p.(Arg1627His)" "" "" "" "0001004395" "00025282" "30" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630His)" "" "" "" "0001004396" "00024115" "30" "4762" "0" "4762" "0" "c.4762T>C" "r.(?)" "p.(Tyr1588His)" "" "" "" "0001004396" "00025282" "30" "4771" "0" "4771" "0" "c.4771T>C" "r.(?)" "p.(Tyr1591His)" "" "" "" "0001004397" "00024115" "30" "3914" "0" "3914" "0" "c.3914A>G" "r.(?)" "p.(Gln1305Arg)" "" "" "" "0001004397" "00025282" "30" "3923" "0" "3923" "0" "c.3923A>G" "r.(?)" "p.(Gln1308Arg)" "" "" "" "0001004398" "00024115" "50" "3625" "0" "3625" "0" "c.3625G>A" "r.(?)" "p.(Asp1209Asn)" "" "" "" "0001004398" "00025282" "50" "3634" "0" "3634" "0" "c.3634G>A" "r.(?)" "p.(Asp1212Asn)" "" "" "" "0001004399" "00024115" "30" "3460" "0" "3460" "0" "c.3460C>G" "r.(?)" "p.(Gln1154Glu)" "" "" "" "0001004399" "00025282" "30" "3469" "0" "3469" "0" "c.3469C>G" "r.(?)" "p.(Gln1157Glu)" "" "" "" "0001004400" "00024115" "50" "3386" "0" "3386" "0" "c.3386C>T" "r.(?)" "p.(Pro1129Leu)" "" "" "" "0001004400" "00025282" "50" "3395" "0" "3395" "0" "c.3395C>T" "r.(?)" "p.(Pro1132Leu)" "" "" "" "0001004401" "00024115" "50" "3349" "0" "3349" "0" "c.3349C>T" "r.(?)" "p.(Pro1117Ser)" "" "" "" "0001004401" "00025282" "50" "3358" "0" "3358" "0" "c.3358C>T" "r.(?)" "p.(Pro1120Ser)" "" "" "" "0001004402" "00024115" "50" "3265" "0" "3265" "0" "c.3265G>A" "r.(?)" "p.(Ala1089Thr)" "" "" "" "0001004402" "00025282" "50" "3274" "0" "3274" "0" "c.3274G>A" "r.(?)" "p.(Ala1092Thr)" "" "" "" "0001004403" "00024115" "50" "3005" "0" "3005" "0" "c.3005G>T" "r.(?)" "p.(Arg1002Leu)" "" "" "" "0001004403" "00025282" "50" "3014" "0" "3014" "0" "c.3014G>T" "r.(?)" "p.(Arg1005Leu)" "" "" "" "0001004404" "00024115" "30" "2690" "0" "2690" "0" "c.2690C>G" "r.(?)" "p.(Pro897Arg)" "" "" "" "0001004404" "00025282" "30" "2699" "0" "2699" "0" "c.2699C>G" "r.(?)" "p.(Pro900Arg)" "" "" "" "0001004405" "00024115" "50" "2407" "0" "2407" "0" "c.2407C>A" "r.(?)" "p.(Arg803Ser)" "" "" "" "0001004405" "00025282" "50" "2416" "0" "2416" "0" "c.2416C>A" "r.(?)" "p.(Arg806Ser)" "" "" "" "0001004406" "00024115" "50" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Glu802Gly)" "" "" "" "0001004406" "00025282" "50" "2414" "0" "2414" "0" "c.2414A>G" "r.(?)" "p.(Glu805Gly)" "" "" "" "0001004407" "00024115" "30" "1628" "0" "1628" "0" "c.1628C>T" "r.(?)" "p.(Thr543Met)" "" "" "" "0001004407" "00025282" "30" "1628" "0" "1628" "0" "c.1628C>T" "r.(?)" "p.(Thr543Met)" "" "" "" "0001004408" "00024115" "30" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477His)" "" "" "" "0001004408" "00025282" "30" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477His)" "" "" "" "0001004409" "00024115" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0001004409" "00025282" "30" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Ala454Thr)" "" "" "" "0001004410" "00024115" "30" "1170" "0" "1170" "0" "c.1170T>A" "r.(?)" "p.(Asn390Lys)" "" "" "" "0001004410" "00025282" "30" "1170" "0" "1170" "0" "c.1170T>A" "r.(?)" "p.(Asn390Lys)" "" "" "" "0001004411" "00024115" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "" "" "0001004411" "00025282" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Gly357Ser)" "" "" "" "0001011889" "00024115" "90" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ser218Leu)" "" "" "" "0001011957" "00024115" "90" "4092" "2" "4092" "2" "c.4092+2T>G" "r.spl" "p.?" "" "" "" "0001011959" "00024115" "90" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "" "" "" "0001012722" "00024115" "70" "5000" "0" "5000" "0" "c.5000G>A" "r.(?)" "p.(Arg1667Gln)" "32" "" "" "0001015745" "00024115" "30" "6959" "0" "6973" "0" "c.*173_*187del" "r.(=)" "p.(=)" "" "" "" "0001015745" "00025282" "30" "6979" "0" "6993" "0" "c.6979_6993del" "r.(?)" "p.(Gln2327_Gln2331del)" "" "" "" "0001015746" "00024115" "50" "6308" "0" "6308" "0" "c.6308G>A" "r.(?)" "p.(Arg2103Lys)" "" "" "" "0001015746" "00025282" "50" "6323" "0" "6323" "0" "c.6323G>A" "r.(?)" "p.(Arg2108Lys)" "" "" "" "0001015747" "00024115" "50" "5480" "0" "5480" "0" "c.5480A>G" "r.(?)" "p.(His1827Arg)" "" "" "" "0001015747" "00025282" "50" "5495" "0" "5495" "0" "c.5495A>G" "r.(?)" "p.(His1832Arg)" "" "" "" "0001015749" "00024115" "50" "3842" "0" "3842" "0" "c.3842A>G" "r.(?)" "p.(Asp1281Gly)" "" "" "" "0001015749" "00025282" "50" "3851" "0" "3851" "0" "c.3851A>G" "r.(?)" "p.(Asp1284Gly)" "" "" "" "0001015750" "00024115" "30" "3704" "0" "3704" "0" "c.3704G>A" "r.(?)" "p.(Arg1235His)" "" "" "" "0001015750" "00025282" "30" "3713" "0" "3713" "0" "c.3713G>A" "r.(?)" "p.(Arg1238His)" "" "" "" "0001015751" "00024115" "70" "1017" "0" "1017" "0" "c.1017C>A" "r.(?)" "p.(Tyr339*)" "" "" "" "0001015751" "00025282" "70" "1017" "0" "1017" "0" "c.1017C>A" "r.(?)" "p.(Tyr339*)" "" "" "" "0001015752" "00024115" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0001015752" "00025282" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "" "" "0001020092" "00024115" "70" "2847" "0" "2856" "0" "c.2847_2856del" "r.(?)" "p.(Ala952Serfs*115)" "19" "" "" "0001020260" "00024115" "70" "2705" "0" "2705" "0" "c.2705C>A" "r.(2705C>A)" "p.(Ser902*)" "19" "" "" "0001027179" "00024115" "30" "6962" "0" "6973" "0" "c.*176_*187del" "r.(=)" "p.(=)" "" "" "" "0001027179" "00025282" "30" "6982" "0" "6993" "0" "c.6982_6993del" "r.(?)" "p.(Gln2328_Gln2331del)" "" "" "" "0001027180" "00024115" "30" "2195" "0" "2195" "0" "c.2195A>C" "r.(?)" "p.(Glu732Ala)" "" "" "" "0001027180" "00025282" "30" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "" "" "0001030017" "00024115" "70" "4075" "0" "4075" "0" "c.4075C>T" "r.(?)" "p.(Arg1359Trp)" "26" "" "" "0001030854" "00024115" "90" "3460" "0" "3460" "0" "c.3460del" "r.(?)" "p.(Gln1154Argfs*33)" "" "" "" "0001042639" "00024115" "30" "7055" "0" "7055" "0" "c.*269C>T" "r.(=)" "p.(=)" "" "" "" "0001042639" "00025282" "30" "7075" "0" "7075" "0" "c.7075C>T" "r.(?)" "p.(Arg2359Trp)" "" "" "" "0001042640" "00024115" "50" "7039" "0" "7039" "0" "c.*253G>C" "r.(=)" "p.(=)" "" "" "" "0001042640" "00025282" "50" "7059" "0" "7059" "0" "c.7059G>C" "r.(?)" "p.(Glu2353Asp)" "" "" "" "0001042641" "00024115" "50" "6736" "0" "6736" "0" "c.6736T>G" "r.(?)" "p.(Trp2246Gly)" "" "" "" "0001042641" "00025282" "50" "6751" "0" "6751" "0" "c.6751T>G" "r.(?)" "p.(Trp2251Gly)" "" "" "" "0001042642" "00024115" "50" "6662" "0" "6662" "0" "c.6662C>T" "r.(?)" "p.(Pro2221Leu)" "" "" "" "0001042642" "00025282" "50" "6677" "0" "6677" "0" "c.6677C>T" "r.(?)" "p.(Pro2226Leu)" "" "" "" "0001042643" "00024115" "50" "6640" "0" "6640" "0" "c.6640C>A" "r.(?)" "p.(His2214Asn)" "" "" "" "0001042643" "00025282" "50" "6655" "0" "6655" "0" "c.6655C>A" "r.(?)" "p.(His2219Asn)" "" "" "" "0001042644" "00024115" "50" "6654" "0" "6659" "0" "c.6654_6659del" "r.(?)" "p.(His2219_His2220del)" "" "" "" "0001042644" "00025282" "50" "6669" "0" "6674" "0" "c.6669_6674del" "r.(?)" "p.(His2224_His2225del)" "" "" "" "0001042645" "00024115" "30" "6654" "0" "6659" "0" "c.6654_6659dup" "r.(?)" "p.(His2219_His2220dup)" "" "" "" "0001042645" "00025282" "30" "6669" "0" "6674" "0" "c.6669_6674dup" "r.(?)" "p.(His2224_His2225dup)" "" "" "" "0001042646" "00024115" "30" "6467" "0" "6467" "0" "c.6467G>T" "r.(?)" "p.(Arg2156Leu)" "" "" "" "0001042646" "00025282" "30" "6482" "0" "6482" "0" "c.6482G>T" "r.(?)" "p.(Arg2161Leu)" "" "" "" "0001042647" "00024115" "30" "6049" "0" "6049" "0" "c.6049G>C" "r.(?)" "p.(Ala2017Pro)" "" "" "" "0001042647" "00025282" "30" "6064" "0" "6064" "0" "c.6064G>C" "r.(?)" "p.(Ala2022Pro)" "" "" "" "0001042648" "00024115" "70" "5588" "0" "5589" "0" "c.5588_5589del" "r.(?)" "p.(Leu1863Argfs*9)" "" "" "" "0001042648" "00025282" "70" "5547" "-1212" "5547" "-1211" "c.5547-1212_5547-1211del" "r.(=)" "p.(=)" "" "" "" "0001042649" "00024115" "90" "5588" "0" "5589" "0" "c.5588_5589del" "r.(?)" "p.(Leu1863Argfs*9)" "" "" "" "0001042649" "00025282" "90" "5547" "-1212" "5547" "-1211" "c.5547-1212_5547-1211del" "r.(=)" "p.(=)" "" "" "" "0001042650" "00024115" "30" "5404" "-413" "5404" "-413" "c.5404-413A>G" "r.(=)" "p.(=)" "" "" "" "0001042650" "00025282" "30" "5419" "-413" "5419" "-413" "c.5419-413A>G" "r.(=)" "p.(=)" "" "" "" "0001042651" "00024115" "30" "4759" "-661" "4759" "-661" "c.4759-661G>A" "r.(=)" "p.(=)" "" "" "" "0001042651" "00025282" "30" "4768" "-661" "4768" "-661" "c.4768-661G>A" "r.(=)" "p.(=)" "" "" "" "0001042652" "00024115" "50" "4705" "0" "4705" "0" "c.4705G>A" "r.(?)" "p.(Glu1569Lys)" "" "" "" "0001042652" "00025282" "50" "4714" "0" "4714" "0" "c.4714G>A" "r.(?)" "p.(Glu1572Lys)" "" "" "" "0001042653" "00024115" "70" "4291" "0" "4291" "0" "c.4291del" "r.(?)" "p.(Ala1431Argfs*21)" "" "" "" "0001042653" "00025282" "70" "4300" "0" "4300" "0" "c.4300del" "r.(?)" "p.(Ala1434Argfs*21)" "" "" "" "0001042654" "00024115" "30" "3825" "2892" "3825" "2892" "c.3825+2892T>C" "r.(=)" "p.(=)" "" "" "" "0001042654" "00025282" "30" "3834" "2892" "3834" "2892" "c.3834+2892T>C" "r.(=)" "p.(=)" "" "" "" "0001042655" "00024115" "30" "3550" "0" "3550" "0" "c.3550G>A" "r.(?)" "p.(Val1184Ile)" "" "" "" "0001042655" "00025282" "30" "3559" "0" "3559" "0" "c.3559G>A" "r.(?)" "p.(Val1187Ile)" "" "" "" "0001042656" "00024115" "50" "3020" "0" "3020" "0" "c.3020G>C" "r.(?)" "p.(Arg1007Pro)" "" "" "" "0001042656" "00025282" "50" "3029" "0" "3029" "0" "c.3029G>C" "r.(?)" "p.(Arg1010Pro)" "" "" "" "0001042657" "00024115" "30" "2504" "0" "2506" "0" "c.2504_2506del" "r.(?)" "p.(Asn835del)" "" "" "" "0001042657" "00025282" "30" "2513" "0" "2515" "0" "c.2513_2515del" "r.(?)" "p.(Asn838del)" "" "" "" "0001042658" "00024115" "30" "2176" "-507" "2176" "-507" "c.2176-507G>A" "r.(=)" "p.(=)" "" "" "" "0001042658" "00025282" "30" "2185" "-507" "2185" "-507" "c.2185-507G>A" "r.(=)" "p.(=)" "" "" "" "0001042659" "00024115" "50" "1990" "-24" "1990" "-24" "c.1990-24G>A" "r.(=)" "p.(=)" "" "" "" "0001042659" "00025282" "50" "1990" "-24" "1990" "-24" "c.1990-24G>A" "r.(=)" "p.(=)" "" "" "" "0001042660" "00024115" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Gln663Arg)" "" "" "" "0001042660" "00025282" "50" "1988" "0" "1988" "0" "c.1988A>G" "r.(?)" "p.(Gln663Arg)" "" "" "" "0001042661" "00024115" "50" "1345" "0" "1345" "0" "c.1345G>T" "r.(?)" "p.(Val449Leu)" "" "" "" "0001042661" "00025282" "50" "1345" "0" "1345" "0" "c.1345G>T" "r.(?)" "p.(Val449Leu)" "" "" "" "0001042662" "00024115" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "" "" "0001042662" "00025282" "50" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Pro282Ser)" "" "" "" "0001042663" "00024115" "30" "540" "-23497" "540" "-23496" "c.540-23497_540-23496insG" "r.(=)" "p.(=)" "" "" "" "0001042663" "00025282" "30" "540" "-23497" "540" "-23496" "c.540-23497_540-23496insG" "r.(=)" "p.(=)" "" "" "" "0001046718" "00024115" "50" "5981" "0" "5981" "0" "c.5981del" "r.(?)" "p.(Pro1994Argfs*25)" "" "" "" "0001046718" "00025282" "50" "5996" "0" "5996" "0" "c.5996del" "r.(?)" "p.(Pro1999Argfs*25)" "" "" "" "0001046719" "00024115" "50" "4970" "0" "4970" "0" "c.4970T>G" "r.(?)" "p.(Leu1657Arg)" "" "" "" "0001046719" "00025282" "50" "4985" "0" "4985" "0" "c.4985T>G" "r.(?)" "p.(Leu1662Arg)" "" "" "" "0001046720" "00024115" "30" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(=)" "" "" "" "0001046720" "00025282" "30" "618" "0" "618" "0" "c.618G>A" "r.(?)" "p.(=)" "" "" "" "0001046721" "00024115" "50" "305" "0" "305" "0" "c.305A>T" "r.(?)" "p.(Tyr102Phe)" "" "" "" "0001046721" "00025282" "50" "305" "0" "305" "0" "c.305A>T" "r.(?)" "p.(Tyr102Phe)" "" "" "" "0001047580" "00024115" "90" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Met)" "" "" "" "0001047580" "00025282" "90" "4186" "0" "4186" "0" "c.4186G>A" "r.(?)" "p.(Val1396Met)" "" "" "" "0001047581" "00024115" "70" "3790" "0" "3790" "0" "c.3790G>A" "r.(?)" "p.(Glu1264Lys)" "" "" "" "0001047581" "00025282" "70" "3799" "0" "3799" "0" "c.3799G>A" "r.(?)" "p.(Glu1267Lys)" "" "" "" "0001049029" "00024115" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Trp)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 529 "{{screeningid}}" "{{variantid}}" "0000054820" "0000084836" "0000073320" "0000116956" "0000089353" "0000147290" "0000089354" "0000147291" "0000089355" "0000147292" "0000089356" "0000147293" "0000089357" "0000147294" "0000105411" "0000170830" "0000111013" "0000178001" "0000111014" "0000178083" "0000111015" "0000178094" "0000111016" "0000178105" "0000111017" "0000178003" "0000111017" "0000178012" "0000111017" "0000178013" "0000111017" "0000178026" "0000111017" "0000178028" "0000111017" "0000178043" "0000111017" "0000178053" "0000111017" "0000178058" "0000111017" "0000178059" "0000111017" "0000178064" "0000111017" "0000178075" "0000111017" "0000178079" "0000111017" "0000178090" "0000111017" "0000178093" "0000111017" "0000178096" "0000111017" "0000178116" "0000111017" "0000178122" "0000111017" "0000178126" "0000111017" "0000178133" "0000111017" "0000178137" "0000111017" "0000178142" 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