### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SCN1A)
# 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}}"
"SCN1A"	"sodium channel, voltage-gated, type I, alpha subunit"	"2"	"q24.3"	"unknown"	"LRG_8"	"UD_132084441276"	""	""	""	"1"	"10585"	"6323"	"182389"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland. The database was initiated by <b>Paola Carrera and Stefania Battistini</b> as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012."	""	"g"	"http://databases.lovd.nl/shared/refseq/SCN1A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2008-06-16 00:00:00"	"00006"	"2018-11-18 20:55:30"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00018515"	"SCN1A"	"transcript variant 2"	"003"	"NM_006920.4"	""	"NP_008851.3"	""	""	""	"-18"	"8082"	"5997"	"166930149"	"166845670"	""	"0000-00-00 00:00:00"	""	""
"00023858"	"SCN1A"	"transcript variant 1"	"004"	"NM_001165963.1"	""	"NP_001159435.1"	""	""	""	"-18"	"8115"	"6030"	"166930149"	"166845670"	"00008"	"2013-11-25 15:05:02"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 20
"{{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"
"00146"	"MATINS;MHA;BDPLT6"	"macrothrombocytopenia, granulocyte inclusions with/without nephritis or sensorineural hearing loss (MATINS, May-Hegglin anomaly (MHA), bleeding disorder platelet type 6 (BDPLT-6))"	"AD"	"155100"	""	"autosomal dominant"	""	"00006"	"2013-06-12 11:18:33"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"00353"	"DRVT"	"Dravet syndrome"	"AD"	"607208"	""	"short stature; microcephaly; neurological abnormalities; seizures; 1y-onset seizures; seizure triggered by fever; psychomotor development stagnates; stagnates.; mental decline; behavioral problems; learning disabilities; MRI global brain atrophy; EEG irregular generalized spike and wave complexes; microcephaly; ataxia; limited knee extension; muscle weakness; dysgenesis hippocampus"	""	"00006"	"2014-03-14 16:15:34"	"00006"	"2023-01-10 16:00:58"
"00354"	"GEFSP1"	"epilepsy, generalized, with febrile seizures plus, type 1 (GEFSP-1)"	"AD"	"604233"	""	""	""	"00006"	"2014-03-14 16:28:31"	"00006"	"2021-12-10 21:51:32"
"00787"	"-"	"encephalopathy, neonatal, severe"	"XLR"	"300673"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00841"	"EIEE"	"encephalopathy, epileptic, early infantile (EIEE)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-02-20 16:58:56"
"01440"	"MGR1"	"migraine, susceptibility 1 (MGR-1)"	"AD"	"157300"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01926"	"MEOAL;MMDS8"	"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"AR"	"251900"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-11-25 10:11:25"
"02510"	"GEFSP2;FEB3A"	"epilepsy, generalized, with febrile seizures plus, type 2"	"AD"	"604403"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-01-10 15:53:14"
"02866"	"FHM3"	"migraine, hemiplegic, familial, type 3"	"AD"	"609634"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-01-10 15:52:05"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05315"	"epilepsy, Rolandic"	"epilepsy, Rolandic"	""	""	""	""	""	"00006"	"2017-08-11 13:02:50"	""	""
"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"
"05788"	"EIEE66"	"encephalopathy, epileptic, early infantile, type 66 (EIEE66)"	"AD"	"618067"	""	""	""	"00006"	"2020-07-14 19:33:46"	""	""
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""
"06995"	"DEE6B"	"encephalopathy, developmental and epileptic, type 6B"	"AD"	"619317"	""	""	""	"00006"	"2023-01-10 15:57:43"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"SCN1A"	"00353"
"SCN1A"	"02510"
"SCN1A"	"02866"
"SCN1A"	"06995"


## Individuals ## Do not remove or alter this header ##
## Count = 329
"{{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}}"
"00016320"	""	""	""	"1"	""	"00681"	""	""	"M"	"no"	"Italy"	""	"0"	""	""	""	""
"00016323"	""	""	""	"1"	""	"00681"	""	""	"F"	"?"	"Italy"	""	"0"	""	""	""	""
"00036783"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036784"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036785"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036786"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036787"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036788"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036789"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036790"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036791"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036792"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036793"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036794"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036795"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036796"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036797"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036798"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036799"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036800"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036801"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036802"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036803"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036804"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036805"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036806"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036807"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036808"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036809"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036810"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036811"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036812"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036813"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036814"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036815"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036816"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036817"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036818"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036819"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036820"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036821"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036822"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036823"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036824"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036825"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036826"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036827"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036828"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036829"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036830"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036831"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036832"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036833"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036834"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036835"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036836"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036837"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036838"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036839"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036840"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036841"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036842"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036843"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036844"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036845"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036846"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036847"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036848"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036849"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036850"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036851"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036852"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036853"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036854"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036855"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036856"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036857"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036858"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036859"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036860"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036861"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036862"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036863"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036864"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036865"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036866"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036867"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036868"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036869"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036870"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036871"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036872"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036873"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036874"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036875"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036876"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036877"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036878"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036879"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036880"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036881"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036882"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036883"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036884"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036885"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036886"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036887"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036888"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036889"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036890"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036891"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00050473"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050707"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00080862"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00116817"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_129:0/1:CONTROL"
"00116886"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_274:0/1:CONTROL"
"00116942"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_411:0/1:CONTROL"
"00116954"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_436:0/1:CONTROL"
"00117023"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_574:0/1:TYPICAL_RE"
"00117053"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_624:0/1:TYPICAL_RE"
"00117103"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_737:0/1:TYPICAL_RE"
"00165247"	""	""	""	"5"	""	"00753"	"{PMID:Le Fort 2004:15277634}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam2PatII-2"
"00165248"	""	""	"00165247"	"1"	""	"00753"	"{PMID:Le Fort 2004:15277634}"	""	"M"	""	"Switzerland"	""	"0"	""	"Phenytoin, phenobarbital and primidone, improvement"	""	"Fam2PatIII-3"
"00165249"	""	""	"00165247"	"1"	""	"00753"	"{PMID:Le Fort 2004:15277634}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam2PatIII-5"
"00165250"	""	""	"00165247"	"1"	""	"00753"	"{PMID:Le Fort 2004:15277634}"	""	"F"	""	"Switzerland"	""	"0"	""	""	""	"Fam2PatIV-4"
"00165251"	""	""	"00165247"	"1"	""	"00753"	"{PMID:Le Fort 2004:15277634}"	""	"F"	""	"Switzerland"	""	"0"	""	"Valproate 400 mg/day, resolution"	""	"Fam2PatIV-5"
"00165252"	""	""	""	"4"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam10Pat1"
"00165253"	""	""	"00165252"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam10Pat2"
"00165254"	""	""	"00165252"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam10Pat3"
"00165255"	""	""	"00165252"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam10Pat4"
"00165256"	""	""	""	"9"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat1"
"00165257"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat2"
"00165258"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat3"
"00165259"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat4"
"00165260"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat5"
"00165261"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat6"
"00165262"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat7"
"00165263"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat8"
"00165264"	""	""	"00165256"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam15Pat9"
"00165265"	""	""	""	"5"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam16Pat1"
"00165266"	""	""	"00165265"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam16Pat2"
"00165267"	""	""	"00165265"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"M"	""	""	""	"0"	""	""	"Europe"	"Fam16Pat3"
"00165268"	""	""	"00165265"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam16Pat4"
"00165269"	""	""	"00165265"	"1"	""	"00753"	"{PMID:Dichgans 2005:16054936}"	""	"F"	""	""	""	"0"	""	""	"Europe"	"Fam16Pat5"
"00165270"	""	""	""	"7"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"M"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatII.1"
"00165271"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"M"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatII.2"
"00165272"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatIII.2"
"00165273"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatIII.4"
"00165274"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"M"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatIII.5"
"00165275"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"M"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatIV.2"
"00165276"	""	""	"00165270"	"1"	""	"00753"	"{PMID:Vanmolkot 2007:17397047}"	""	"M"	""	"United States"	""	"0"	""	""	"white"	"Fam1PatIV.3"
"00165277"	""	""	""	"2"	""	"00753"	"{PMID:Gargus 2007:18021921}"	""	"F"	""	""	""	"0"	""	""	"mixed"	"Fam1Pat1"
"00165278"	""	""	"00165277"	"1"	""	"00753"	"{PMID:Gargus 2007:18021921}"	""	"F"	""	""	""	"0"	""	""	"mixed"	"Fam1Pat2"
"00165279"	""	""	""	"1"	""	"00753"	"{PMID:de Vries 2007:18056581}"	""	"M"	""	""	""	"0"	""	""	"Europe, west"	"Fam7PatIII-2"
"00165280"	""	""	""	"5"	""	"00753"	"{PMID:Castro 2008:19220312}"	""	"F"	""	"Portugal"	""	"0"	""	"carbamazepine 400 mg/day, resolution"	""	"Fam1PatII:2"
"00165281"	""	""	"00165280"	"1"	""	"00753"	"{PMID:Castro 2008:19220312}"	""	"F"	""	"Portugal"	""	"0"	""	""	""	"Fam1PatII:4"
"00165282"	""	""	"00165280"	"1"	""	"00753"	"{PMID:Castro 2008:19220312}"	""	"M"	""	"Portugal"	""	"0"	""	"carbamazepine 400 mg/day, resolution"	""	"Fam1PatII:5"
"00165283"	""	""	"00165280"	"1"	""	"00753"	"{PMID:Castro 2008:19220312}"	""	"M"	""	"Portugal"	""	"0"	""	""	""	"Fam1PatIII:2"
"00165284"	""	""	"00165280"	"1"	""	"00753"	"{PMID:Castro 2008:19220312}"	""	"M"	""	"Portugal"	""	"0"	""	"carbamazepine 600 mg/day, improvement; higher dose not tolerated"	""	"Fam1PatIII:4"
"00165285"	""	""	""	"3"	""	"00753"	"{PMID:Vahedi 2009:19332696}"	""	"F"	""	"France"	""	"0"	""	""	"white"	"Fam1PatII-2"
"00165286"	""	""	"00165285"	"1"	""	"00753"	"{PMID:Vahedi 2009:19332696}"	""	"F"	""	"France"	""	"0"	""	""	"white"	"Fam1PatIII-1"
"00165287"	""	""	"00165285"	"1"	""	"00753"	"{PMID:Vahedi 2009:19332696}"	""	"F"	""	"France"	""	"0"	""	""	"white"	"Fam1PatIII-2"
"00177009"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"34124"
"00177010"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"47970"
"00177011"	""	""	""	"1"	""	"02552"	""	""	"F"	"no"	"Switzerland"	""	"0"	""	""	""	"75143"
"00180156"	""	""	""	"1"	""	"00006"	"{PMID:Tumienė 2018:29286531}"	""	""	""	"(Slovenia)"	""	"0"	""	""	""	"29286531-Pat08"
"00181190"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"73134"
"00207799"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207985"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00208625"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00208757"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00210187"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00210710"	""	""	""	"10"	""	"00006"	"{PMID:Carvill 2018:30526861}"	"4-generation family, 10 affected (3F, 7M)"	"M"	""	""	""	"0"	""	""	""	"30526861-Fam1Pat1"
"00210711"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2018:30526861}"	"3-generation family, 1 affected"	"F"	""	""	""	"0"	""	""	""	"30526861-Fam2Pat2"
"00210712"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2018:30526861}"	"2-generation family, 1 affected"	"M"	""	""	""	"0"	""	""	""	"30526861-Pat3"
"00210713"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2018:30526861}"	"2-generation family, 1 affected"	"F"	""	""	""	"0"	""	""	""	"30526861-Pat4"
"00210714"	""	""	""	"3"	""	"00006"	"{PMID:Carvill 2018:30526861}"	"3-generation family, 3 affected (3F)"	"F"	""	""	""	"0"	""	""	""	"30526861-Pat5"
"00210715"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2018:30526861}"	""	"M"	""	""	""	"0"	""	""	""	"30526861-Pat6"
"00210716"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2018:30526861}"	""	"F"	""	""	""	"0"	""	""	""	"30526861-Pat7"
"00239790"	""	""	""	"1"	""	"03250"	""	""	"M"	""	"Argentina"	""	"0"	""	""	""	""
"00269534"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"M"	"no"	"Italy"	""	"0"	""	""	""	""
"00269901"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00275580"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00287090"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00288219"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2019:31607746}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat29"
"00289417"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00292316"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292317"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292318"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292319"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292320"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292321"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292322"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292323"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292324"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292325"	""	""	""	"49"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292326"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292327"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292328"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292329"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292330"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292331"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292332"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292333"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292334"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292335"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295173"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295292"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295547"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00295933"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00295995"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00295998"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00296531"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00296668"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00301256"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00301258"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"M"	""	"Italy"	""	""	""	""	""	""
"00301386"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00301402"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00303047"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat92"
"00303049"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat94"
"00303111"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"T23445"
"00303112"	""	""	""	"6"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"3-generation family, 6 affected (3F, 3M)"	"M"	""	""	""	"0"	""	""	""	"T1639"
"00303113"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T18466"
"00303114"	""	""	""	"3"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"3-generation family, 3 affected (3M)"	"M"	""	""	""	"0"	""	""	""	"T18594"
"00303115"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"T19875"
"00303116"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"family, several affected"	"M"	""	""	""	"0"	""	""	""	"T18775"
"00303117"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"T18997"
"00303118"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"T19963"
"00303154"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T2509"
"00303155"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T21732"
"00303156"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T2529"
"00303157"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T22294"
"00303158"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T21746"
"00303159"	""	""	""	"1"	""	"00006"	"{PMID:Carvill 2013:23708187}"	""	""	""	""	""	"0"	""	""	""	"T23947"
"00305913"	""	""	""	"1"	""	"00006"	"{PMID:Marcogliese 2018:30057031}, {PMID:Schuermans 2022:35606766}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Belgium"	""	"0"	""	""	""	"Pat5;Pat3"
"00305993"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat24"
"00305994"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat25"
"00305995"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	""	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat26"
"00305996"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat27"
"00305997"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat28"
"00305998"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	""	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat29"
"00305999"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat30"
"00306000"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:27781031}"	""	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat31"
"00306001"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat32"
"00306002"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat33"
"00306003"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	"M"	""	"Denmark"	"52y"	"0"	""	""	""	"Pat34"
"00306004"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	""	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat35"
"00306005"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat36"
"00306006"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat37"
"00306007"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat38"
"00306008"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}, {PMID:Djémié 2016:27465585}"	""	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat39"
"00306009"	""	""	""	"1"	""	"00006"	"{PMID:Johannesen 2020:32427350}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Denmark"	""	"0"	""	""	""	"Pat40"
"00307967"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:28940097}"	"simplex case"	"M"	""	""	""	"0"	""	""	""	"16DG0697"
"00317970"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"171044"
"00317988"	""	""	""	"1"	""	"00006"	"{PMID:Riazuddin 2017:27457812}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	""	"PKMR61a"
"00320002"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	"171473"
"00325402"	""	""	""	"1"	""	"00006"	"{PMID:Hong 2020:33333793}"	""	"M"	""	"Taiwan"	""	"0"	""	""	""	"Pat15"
"00325403"	""	""	""	"1"	""	"00006"	"{PMID:Hong 2020:33333793}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"Pat16"
"00326512"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	""	""	""	""	""
"00362024"	""	""	""	"2"	""	"00006"	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	"family, 2 affected"	""	""	""	""	"0"	""	""	""	"PME_FI_G07/PME_FI_G08"
"00374460"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5217"
"00374461"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3764"
"00374462"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3457"
"00374463"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4925"
"00374464"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4940"
"00374465"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5248"
"00374466"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5621"
"00374467"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2483"
"00374468"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5561"
"00374469"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1532"
"00374470"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4101"
"00374471"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3756"
"00374472"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4722"
"00374473"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-255"
"00374474"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5280"
"00374562"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2919"
"00374613"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"R-0563"
"00374624"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3323"
"00374625"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1140"
"00374626"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4617"
"00374831"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2313"
"00374832"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4761"
"00374833"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5698"
"00374834"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-518"
"00374835"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1665"
"00386495"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""
"00386496"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""
"00388292"	""	""	""	"1"	""	"00006"	"{PMID:Jaber 2021:32928894}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat1"
"00388293"	""	""	""	"1"	""	"00006"	"{PMID:Jaber 2021:32928894}"	"2-generation family, affected male fetus, unaffected non-carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat2"
"00388294"	""	""	""	"1"	""	"00006"	"{PMID:Jaber 2021:32928894}"	"2-generation family, affected male fetus, unaffected non-carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat3"
"00391860"	""	""	""	"1"	""	"02494"	""	""	"M"	"no"	"Spain"	""	""	""	""	""	"018P"
"00395532"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	""	""	"0"	""	""	""	"189484"
"00401644"	""	""	""	"1"	""	"02494"	""	""	"M"	"no"	"Spain"	""	""	""	""	""	"226p"
"00403876"	""	""	""	"1"	""	"00006"	"{PMID:Froukh 2020:32056211}"	"analysis 103 families with neurodevelopmental disorders"	""	""	"Jordan"	""	"0"	""	""	""	"TF083"
"00417877"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"205435"
"00427785"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat005"
"00427786"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat241"
"00427787"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat081"
"00427788"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat017"
"00427789"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat240"
"00427790"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	"family, 1 affected, unaffected carrier father"	"F"	""	"China"	""	"0"	""	""	""	"Pat279"
"00427791"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	"family, 1 affected, unaffected carrier father"	"M"	""	"China"	""	"0"	""	""	""	"Pat062"
"00427792"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	"family, 1 affected, unaffected carrier mother"	"M"	""	"China"	""	"0"	""	""	""	"Pat277"
"00427813"	""	""	""	"1"	""	"00006"	"{PMID:Veeramah 2013:23647072}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"PatD"
"00427814"	""	""	""	"1"	""	"00006"	"{PMID:Veeramah 2013:23647072}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"PatE"
"00435408"	""	""	""	"2"	""	"03288"	""	""	"M"	"no"	"Italy"	""	""	""	""	""	""
"00438309"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat27"
"00438321"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat39"
"00438349"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat67"
"00438355"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat73"
"00438371"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat89"
"00438384"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat103"
"00438568"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSC0012"
"00438577"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSC0025"
"00438602"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSC0053"
"00438664"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0537"
"00438694"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0721"
"00438715"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0780"
"00443770"	""	""	""	"2"	""	"03288"	""	""	"F"	"no"	"Italy"	""	""	""	""	""	""
"00447877"	""	""	""	"1"	""	"03820"	""	""	"M"	"yes"	"Brazil"	""	"0"	""	""	""	""
"00447945"	""	""	""	"1"	""	"00006"	"{PMID:Ostrander 2018:30109124}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat13"
"00448671"	""	""	""	"1"	"cc_by_4.0;1"	"04674"	""	""	""	""	"(China)"	""	""	""	""	""	""
"00448673"	""	""	""	"1"	""	"04674"	""	""	""	""	"China"	""	""	""	""	""	""
"00455816"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"M"	""	""	""	"0"	""	""	""	"Pat56"
"00455819"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat59"
"00455829"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat69"
"00455861"	""	""	""	"1"	""	"00006"	"{PMID:Salinas 2020:33084218}"	"patient"	"F"	""	""	""	"0"	""	""	""	"Pat101"
"00458547"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"309026"
"00465969"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"142169"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 274
"{{individualid}}"	"{{diseaseid}}"
"00016320"	"00353"
"00016323"	"00354"
"00036786"	"01926"
"00036787"	"00198"
"00036789"	"00198"
"00036790"	"00198"
"00036794"	"00198"
"00036795"	"00198"
"00036796"	"00198"
"00036802"	"00198"
"00036803"	"00198"
"00036805"	"00198"
"00036806"	"00198"
"00036808"	"00198"
"00036809"	"00198"
"00036811"	"00198"
"00036812"	"00198"
"00036813"	"00198"
"00036815"	"00198"
"00036816"	"00198"
"00036819"	"00198"
"00036821"	"00198"
"00036822"	"00198"
"00036823"	"00198"
"00036825"	"00198"
"00036827"	"00198"
"00036829"	"00198"
"00036835"	"00198"
"00036837"	"00198"
"00036840"	"00198"
"00036841"	"00198"
"00036842"	"00198"
"00036844"	"00198"
"00036846"	"00198"
"00036847"	"00198"
"00036849"	"00198"
"00036850"	"00198"
"00036852"	"00198"
"00036853"	"00198"
"00036854"	"00198"
"00036856"	"00198"
"00036857"	"00198"
"00036859"	"00198"
"00036860"	"00198"
"00036863"	"00198"
"00036866"	"00198"
"00036868"	"00198"
"00036871"	"00198"
"00036875"	"00198"
"00036877"	"00198"
"00036878"	"00198"
"00036880"	"00198"
"00036882"	"00198"
"00036883"	"00198"
"00036885"	"00198"
"00036888"	"00198"
"00036889"	"00198"
"00036891"	"00198"
"00050473"	"00198"
"00050707"	"00198"
"00080862"	"00353"
"00116817"	"00000"
"00116886"	"00000"
"00116942"	"00000"
"00116954"	"00000"
"00117023"	"05315"
"00117053"	"05315"
"00117103"	"05315"
"00165247"	"01440"
"00165248"	"01440"
"00165249"	"01440"
"00165250"	"01440"
"00165251"	"01440"
"00165252"	"01440"
"00165253"	"01440"
"00165254"	"01440"
"00165255"	"01440"
"00165256"	"01440"
"00165257"	"01440"
"00165258"	"01440"
"00165259"	"01440"
"00165260"	"01440"
"00165261"	"01440"
"00165262"	"01440"
"00165263"	"01440"
"00165264"	"01440"
"00165265"	"01440"
"00165266"	"01440"
"00165267"	"01440"
"00165268"	"01440"
"00165269"	"01440"
"00165270"	"01440"
"00165271"	"01440"
"00165272"	"01440"
"00165273"	"01440"
"00165274"	"01440"
"00165275"	"01440"
"00165276"	"01440"
"00165277"	"01440"
"00165278"	"01440"
"00165279"	"01440"
"00165280"	"01440"
"00165281"	"01440"
"00165282"	"01440"
"00165283"	"01440"
"00165284"	"01440"
"00165285"	"01440"
"00165286"	"01440"
"00165287"	"01440"
"00177009"	"00344"
"00177010"	"00344"
"00177011"	"00344"
"00180156"	"00198"
"00181190"	"00344"
"00210710"	"00353"
"00210711"	"00353"
"00210712"	"00353"
"00210713"	"00353"
"00210714"	"00353"
"00210715"	"00353"
"00210716"	"00353"
"00239790"	"04270"
"00269534"	"00787"
"00269901"	"00198"
"00275580"	"00198"
"00287090"	"00198"
"00288219"	"00198"
"00289417"	"00198"
"00292316"	"00198"
"00292317"	"00198"
"00292318"	"00198"
"00292319"	"00198"
"00292320"	"00198"
"00292321"	"00198"
"00292322"	"00198"
"00292323"	"00198"
"00292324"	"00198"
"00292325"	"00198"
"00292326"	"00198"
"00292327"	"00198"
"00292328"	"00198"
"00292329"	"00198"
"00292330"	"00198"
"00292331"	"00198"
"00292332"	"00198"
"00292333"	"00198"
"00292334"	"00198"
"00292335"	"00198"
"00295173"	"00198"
"00295292"	"00198"
"00295547"	"00198"
"00295933"	"00198"
"00295995"	"00198"
"00295998"	"00198"
"00296531"	"00198"
"00296668"	"00198"
"00301256"	"00841"
"00301258"	"00344"
"00301386"	"00198"
"00301402"	"00198"
"00303047"	"05521"
"00303049"	"05521"
"00303111"	"00344"
"00303112"	"00344"
"00303113"	"00344"
"00303114"	"00344"
"00303115"	"00344"
"00303116"	"00344"
"00303117"	"00344"
"00303118"	"00344"
"00303154"	"00344"
"00303155"	"00344"
"00303156"	"00344"
"00303157"	"00344"
"00303158"	"00344"
"00303159"	"00344"
"00305913"	"05611"
"00305993"	"04270"
"00305994"	"04270"
"00305995"	"04270"
"00305996"	"04270"
"00305997"	"04270"
"00305998"	"04270"
"00305999"	"04270"
"00306000"	"04270"
"00306001"	"04270"
"00306002"	"04270"
"00306003"	"04270"
"00306004"	"04270"
"00306005"	"04270"
"00306006"	"04270"
"00306007"	"04270"
"00306008"	"04270"
"00306009"	"04270"
"00307967"	"00139"
"00317970"	"00353"
"00317988"	"00139"
"00320002"	"02866"
"00325402"	"00198"
"00325403"	"00198"
"00326512"	"05788"
"00362024"	"04270"
"00374460"	"00198"
"00374461"	"00198"
"00374462"	"00198"
"00374463"	"00198"
"00374464"	"00198"
"00374465"	"00198"
"00374466"	"00198"
"00374467"	"00198"
"00374468"	"00198"
"00374469"	"00198"
"00374470"	"00198"
"00374471"	"00198"
"00374472"	"00198"
"00374473"	"00198"
"00374474"	"00198"
"00374562"	"00198"
"00374613"	"00198"
"00374624"	"00198"
"00374625"	"00198"
"00374626"	"00198"
"00374831"	"00198"
"00374832"	"00198"
"00374833"	"00198"
"00374834"	"00198"
"00374835"	"00198"
"00386495"	"00198"
"00386496"	"00198"
"00388292"	"00353"
"00388293"	"00353"
"00388294"	"00353"
"00391860"	"00353"
"00391860"	"02510"
"00395532"	"02510"
"00401644"	"00139"
"00401644"	"00353"
"00403876"	"05611"
"00417877"	"02510"
"00427785"	"04270"
"00427786"	"04270"
"00427787"	"04270"
"00427788"	"04270"
"00427789"	"04270"
"00427790"	"04270"
"00427791"	"04270"
"00427792"	"04270"
"00427813"	"00344"
"00427814"	"00344"
"00435408"	"04270"
"00438309"	"04270"
"00438321"	"04270"
"00438349"	"04270"
"00438355"	"04270"
"00438371"	"04270"
"00438384"	"04270"
"00438568"	"06906"
"00438577"	"06906"
"00438602"	"06906"
"00438664"	"06906"
"00438694"	"06906"
"00438715"	"06906"
"00443770"	"04270"
"00447877"	"00198"
"00447945"	"00841"
"00448671"	"00146"
"00448671"	"02510"
"00448673"	"02510"
"00455816"	"00198"
"00455819"	"00198"
"00455829"	"00198"
"00455861"	"00198"
"00458547"	"00353"
"00465969"	"00353"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00146, 00198, 00344, 00353, 00354, 00787, 00841, 01440, 01926, 02510, 02866, 04270, 05315, 05521, 05611, 05788, 06906, 06995
## Count = 244
"{{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}}"
"0000014934"	"00353"	"00016320"	"00681"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000014936"	"00354"	"00016323"	"00681"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037085"	"00198"	"00050473"	"00006"	"Isolated (sporadic)"	""	"generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability  profound"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037319"	"00198"	"00050707"	"00006"	"Isolated (sporadic)"	""	"global developmental delay, seizures, abnormality of the cerebral cortex, plagiocephaly, unsteady gait"	""	""	""	""	""	""	""	""	""	""	""	""
"0000060431"	"00353"	"00080862"	"01758"	"Isolated (sporadic)"	""	"Dravet syndrome (OMIM:607208)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000092295"	"05315"	"00117023"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""	""
"0000092317"	"05315"	"00117053"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""	""
"0000092362"	"05315"	"00117103"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130126"	"01440"	"00165247"	"00753"	"-"	""	"The patient didn\'t have episodes of transient visual loss."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130127"	"01440"	"00165248"	"00753"	"-"	""	"The patient had 3 to 10 daily episodes of transient blindness, most commonly bilaterally, since infancy. He also had migraine with aura, the attacks would begin with a scintillating scotoma, followed by unilateral sensory symptoms and weakness, initially in one limb,progressing to include the trunk, the second limb and the face. Aphasia may have occurred. The attacks lasted ca.30 minutes and were followed by 1 to 8 hours of intense pulsatile headache, photophobia and phonophobia, nausea and occasional vomiting."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130128"	"01440"	"00165249"	"00753"	"-"	""	"The patient, also had \"elicited repetitive daily blindness\" (ERDB) beginning in early childhood and FHM beginning at age 20 years."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130129"	"01440"	"00165250"	"00753"	"-"	""	"The patient had ERDB. Episodes occurred up to 15 times per day and were a significant handicap. Frequent falls and brief episodes of disconnection (because of blindness) at age 4 years.  Since age 7 years, she has had FHM."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130130"	"01440"	"00165251"	"00753"	"-"	""	"age first HM attack 8y;p atient had identical ERDB, observed by her mother from the earliest age.At age 6 years, she had partial seizures with secondary generalization."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130131"	"01440"	"00165252"	"00753"	"-"	""	"age first HM attack 6y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130132"	"01440"	"00165253"	"00753"	"-"	""	"age first HM attack 10y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130133"	"01440"	"00165254"	"00753"	"-"	""	"age first HM attack 15y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130134"	"01440"	"00165255"	"00753"	"-"	""	"age first HM attack 9y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130135"	"01440"	"00165256"	"00753"	"-"	""	"age first HM attack 21y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130136"	"01440"	"00165257"	"00753"	"-"	""	"age first HM attack 9y (duration days)"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130137"	"01440"	"00165258"	"00753"	"-"	""	"age first HM attack 15y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130138"	"01440"	"00165259"	"00753"	"-"	""	"age first HM attack 10y (duration 24h)"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130139"	"01440"	"00165260"	"00753"	"-"	""	"age first HM attack 10y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130140"	"01440"	"00165261"	"00753"	"-"	""	"age first HM attack 12y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130141"	"01440"	"00165262"	"00753"	"-"	""	"age first HM attack 11y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130142"	"01440"	"00165263"	"00753"	"-"	""	"age first HM attack 11y (duration >24h); age first aura 30y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130143"	"01440"	"00165264"	"00753"	"-"	""	"age first HM attack 12y (duration 45h); age first aura 45y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130144"	"01440"	"00165265"	"00753"	"-"	""	"age first HM attack 7y; age first aura 20y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130145"	"01440"	"00165266"	"00753"	"-"	""	"age first HM attack 6y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130146"	"01440"	"00165267"	"00753"	"-"	""	"age first aura 30y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130147"	"01440"	"00165268"	"00753"	"-"	""	"age first HM attack 12y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130148"	"01440"	"00165269"	"00753"	"-"	""	"age first HM attack 10y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130149"	"01440"	"00165270"	"00753"	"-"	""	"age first HM attack 12y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130150"	"01440"	"00165271"	"00753"	"-"	""	"age first HM attack 11y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130151"	"01440"	"00165272"	"00753"	"-"	""	"age first HM attack 21y"	""	""	""	""	""	""	""	""	""	""	"Migraine with Aura; Migraine without Aura"	""
"0000130152"	"01440"	"00165273"	"00753"	"-"	""	"age first HM attack 10y (duration 24h); age first aura 60y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130153"	"01440"	"00165274"	"00753"	"-"	""	"age first HM attack 24y; age first aura 15y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130154"	"01440"	"00165275"	"00753"	"-"	""	"age first HM attack 15y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130155"	"01440"	"00165276"	"00753"	"-"	""	"age first HM attack 19y; age first aura 45y"	""	""	""	""	""	""	""	""	""	""	"Migraine without Aura"	""
"0000130156"	"01440"	"00165277"	"00753"	"-"	""	"The patient presented, at 4 years of age, with a history of uncontrolled jerking of the limbs and trunk not noticed at birth, but observed by the family since 2 years of age.  The jerking movements were exacerbated by fine motor activity and walking. Neurological  examination was largerly normal, with the exception of impaired fine motor coordination, a clumsy gait and multifocal action myoclonus. Over the next few months, increased myoclonus and gait deterioration were noted, the patient  started to receive intensive physical and occupational therapy. At 9 years of age she began to develop frequent \"band-like\" headaches weekly that were moderately severe, but lasted less than 1 hour. The headaches have never been accompained by aura, photophobia, phonophobia, nausea, vomiting or ataxia, but she reports frequent periodic colorful visual distortions unassociated with the headache."	""	""	""	""	""	""	""	""	""	""	""	""
"0000130157"	"01440"	"00165278"	"00753"	"-"	""	"The patient has a 12-year history of episodic migraine that includes symptoms of vertigo, ataxia, nausea, photophobia, phonophobia and nonpulsatile tinnitus. The headaches typically last 1-2 days; one episode 10 years ago was severe enough to result in prolonged hospitalization. She had never visual aura."	""	""	""	""	""	""	""	""	""	""	"Ataxia; Migraine without Aura"	""
"0000130158"	"01440"	"00165279"	"00753"	"-"	""	"age first HM attack 38y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000130159"	"01440"	"00165280"	"00753"	"-"	""	"age first HM attack 14y; age first aura 15y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM; GTCS; Partial Seizures"	""
"0000130160"	"01440"	"00165281"	"00753"	"-"	""	"age first HM attack 16y; age first aura"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130161"	"01440"	"00165282"	"00753"	"-"	""	"age first HM attack 18y; age first aura 1hy"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM; GTCS"	""
"0000130162"	"01440"	"00165283"	"00753"	"-"	""	"age first HM attack 12y; age first aura"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130163"	"01440"	"00165284"	"00753"	"-"	""	"age first HM attack 10y; age first aura 15y"	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM; GTCS"	""
"0000130164"	"01440"	"00165285"	"00753"	"-"	""	"age first HM attack 14y;p atient never had transient episodes of blindness. First migraine episode 24 hours after a minor head trauma."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130165"	"01440"	"00165286"	"00753"	"-"	""	"age first HM attack 6y; age first aura 60y;p atient reports mainly unilateral aura symptoms and occasional aura with bilateral sensory and motor symptoms. Since age 6, she has had repeated, daily (up to 10 times per day) stereotyped, bilateral transient blindness of maximum 10 seconds. Complete darkness and blindness in both eyes come up from the peripheral field to the central vision. There is no associated headache or any other neurologic symptoms before, during or after the transient blindness episodes."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000130166"	"01440"	"00165287"	"00753"	"-"	""	"age first HM attack 10y;p roband\'s sister (III-2) was examined at age 10 after a first episode of hemiplegic migraine that occurred shortly after a minor head trauma. She reported no episode of transient blindness."	""	""	""	""	""	""	""	""	""	"FHM-3"	"FHM"	""
"0000141826"	"00344"	"00177009"	"02552"	"Familial, autosomal dominant"	""	"HP:0001252\r\nHP:0002066"	"00y04m"	""	""	""	""	""	""	""	""	"Dravet syndrome"	""	""
"0000141827"	"00344"	"00177010"	"02552"	"Familial, autosomal dominant"	""	"HP:0002510\r\nHP:0003781\r\nHP:0002705\r\nHP:0000431\r\nHP:0011078"	"00y02m"	""	""	""	""	""	""	""	""	"Dravet syndrome"	""	""
"0000141828"	"00344"	"00177011"	"02552"	"Familial, autosomal dominant"	""	"HP:0001285"	"00y03m"	""	""	""	""	""	""	""	""	"Dravet syndrome"	""	""
"0000142610"	"00198"	"00180156"	"00006"	"Familial, autosomal dominant"	""	"(Pharmacoresistant) epilepsy (HP:0001250), generalized tonic- clonic seizures (HP:0002069), global developmental delay (HP:0001263), developmental regression (HP:0002376)."	""	""	""	""	""	""	""	""	""	"EIEE-6, Dravet syndrome"	"epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations"	""
"0000144014"	"00344"	"00181190"	"02552"	"Isolated (sporadic)"	""	""	"03y04m"	""	""	""	""	""	""	""	""	""	""	""
"0000155581"	"00198"	"00207799"	"01164"	"Unknown"	""	"HP:0011169 (Generalized clonic seizures); HP:0002373 (Febrile seizures)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000155754"	"00198"	"00207985"	"01164"	"Unknown"	""	"HP:0010864 (Intellectual disability, severe); HP:0002197 (Generalized seizures); HP:0002373 (Febrile seizures)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000156688"	"01926"	"00036786"	"01164"	"Unknown"	""	"mother healthy, result of daughter: suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156689"	"00198"	"00036787"	"01164"	"Unknown"	""	"child of index: epilepsy, brother, father and grand-father: epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156690"	"00198"	"00036789"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156691"	"00198"	"00036790"	"01164"	"Unknown"	""	"febrile convulsion and focal seizures"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000156692"	"00198"	"00036794"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156693"	"00198"	"00036795"	"01164"	"Unknown"	""	"parents: segregation analysis;child: Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156694"	"00198"	"00036796"	"01164"	"Unknown"	""	"therapy-refractory epilepsy since the sixth month of life,severe mental retardation, spastistic-ataxic gait disorder, scoliosis"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156695"	"00198"	"00036802"	"01164"	"Unknown"	""	"therapy-refractory Myoklonusepilepsy; other patient: Dravet syndrome, GEFS+, therapie-resistent epilepsy with tonic-clonic generalized seizures, myoclonic seizures and Absencen"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156696"	"00198"	"00036803"	"01164"	"Unknown"	""	"suspected Dravet syndrome, febrile convulsions"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156697"	"00198"	"00036805"	"01164"	"Unknown"	""	"therapie-resistent epilepsy with tonic-clonic generalized seizures, Absencen, mental retardation"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156698"	"00198"	"00036806"	"01164"	"Unknown"	""	"suspected Dravet syndrome (relapsing prolonged generalized seizures)"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156699"	"00198"	"00036808"	"01164"	"Unknown"	""	"suspected Dravet syndrome, epilepsy with Hemi-Grand mal and generalized seizures"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156700"	"00198"	"00036809"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156701"	"00198"	"00036811"	"01164"	"Unknown"	""	"Grand-Mal-epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156702"	"00198"	"00036812"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156703"	"00198"	"00036813"	"01164"	"Unknown"	""	"Dravet syndrome, therapie-resistent epilepsy since the forth month of life, Grand-mal, infektgetriggert, Absencen, Blinzelabsencen, Hypomimie, bradykinesia, Spastic-ataxic gait, Perseverationsneigung"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156704"	"00198"	"00036815"	"01164"	"Unknown"	""	"focal infantile epilepsy with relapsing Status epilepticus, adequate psychomotor development"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156705"	"00198"	"00036816"	"01164"	"Unknown"	""	"GEFS+, status post multiple generalized febrile seizures"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156706"	"00198"	"00036819"	"01164"	"Unknown"	""	"therapie-resistent epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156707"	"00198"	"00036821"	"01164"	"Unknown"	""	"Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156708"	"00198"	"00036822"	"01164"	"Unknown"	""	"suspected familiar hemiplegtic migraine (mother probably also affected)"	""	""	""	""	""	""	""	""	""	""	"hemiplegic migraine"	""
"0000156709"	"00198"	"00036823"	"01164"	"Unknown"	""	"suspected Dravet syndrome: epilepsy with early-childhood Grand-mal and alterating hemi-Grand-mal seizures, relapsing febrile convulsions, mental retardation, severe learning disorder"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156710"	"00198"	"00036825"	"01164"	"Unknown"	""	"GEFS+, febrile convulsions"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156711"	"00198"	"00036827"	"01164"	"Unknown"	""	"Epileptic encephalopathy (eutrophic newborn), mother: idiopathic generalized epilepsy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000156712"	"00198"	"00036829"	"01164"	"Unknown"	""	"Dravet syndrome; therapie-resistent epilepsy, grand-mal,mental retardation"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156713"	"00198"	"00036835"	"01164"	"Unknown"	""	"epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156714"	"00198"	"00036837"	"01164"	"Unknown"	""	"suspected SCN1A-mutation"	""	""	""	""	""	""	""	""	""	""	"SCN1A carrier?"	""
"0000156715"	"00198"	"00036840"	"01164"	"Unknown"	""	"Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156716"	"00198"	"00036841"	"01164"	"Unknown"	""	"GEFS+"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156717"	"00198"	"00036842"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156718"	"00198"	"00036844"	"01164"	"Unknown"	""	"suspected focal epilepsy with abnormal Abcences and grand mal febrile convulsions from 3 to 7"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156719"	"00198"	"00036846"	"01164"	"Unknown"	""	"suspected SCN1A-associated disease"	""	""	""	""	""	""	""	""	""	""	"SCN1A carrier?"	""
"0000156720"	"00198"	"00036847"	"01164"	"Unknown"	""	"5x febrile seizures"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000156721"	"00198"	"00036849"	"01164"	"Unknown"	""	"therapie-resistent focal epilepsy with generalized and focal seizures; suspected Dravet syndrome; other patient: suspected familiar hemiplegtic migraine"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156722"	"00198"	"00036850"	"01164"	"Unknown"	""	"suspected SCN1A-mutation, epilepsy GEFS"	""	""	""	""	""	""	""	""	""	""	"SCN1A carrier?"	""
"0000156723"	"00198"	"00036852"	"01164"	"Unknown"	""	"Dravet syndrome, febrile convulsions, epilepsy"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156724"	"00198"	"00036853"	"01164"	"Unknown"	""	"suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156725"	"00198"	"00036854"	"01164"	"Unknown"	""	"suspected Dravet syndrome, myoklonic epilepsy"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156726"	"00198"	"00036856"	"01164"	"Unknown"	""	"congenital hyperinsulinism, Nesidioblastose, several severe incidents of hypoglycaemia as a newborn, MRT: watershed lesions bi po, sympt. focal epilepsy, obesity"	""	""	""	""	""	""	""	""	""	""	"hyperinsulinism"	""
"0000156727"	"00198"	"00036857"	"01164"	"Unknown"	""	"seizures; MGZ #77517: suspected GEFS+, familiar febrile convulsions; MGZ #77675: suspected Dravet syndrome, epilepsy with hemi-grand mal and generalized seizures; MGZ #76024: familiar hemiplegtic migraine; MGZ #78100: suspected GEFS+,suspected Dravet syndrome, epilepsy with focal and generalized seizures, milde brain atrophy; family history positive:twin sister first seizure after vaccination, 4 seizures without fever,mother as child seizures; MGZ #78251: GEFS+, febrile convulsions"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000156728"	"00198"	"00036859"	"01164"	"Unknown"	""	"relapsing febrile convulsions, developmental delay, language delay"	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000156729"	"00198"	"00036860"	"01164"	"Unknown"	""	"Dravet, myoclonic epilepsy of infancy"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156730"	"00198"	"00036863"	"01164"	"Unknown"	""	"status post febrile convulsions, epilepsy with generalized tonic-clonic seizures, suspected Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156731"	"00198"	"00036866"	"01164"	"Unknown"	""	"suspected Dravet syndrome; brother has febrile convulsions"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156732"	"00198"	"00036868"	"01164"	"Unknown"	""	"epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156733"	"00198"	"00036871"	"01164"	"Unknown"	""	"therapy- refraktory epilepsy, grand mal and myoclonia, mental retardation, cleft lip, Hypomimie, Hypophonie, febrile convulsions"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156734"	"00198"	"00036875"	"01164"	"Unknown"	""	"epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156735"	"00198"	"00036877"	"01164"	"Unknown"	""	"suspected Dravet syndrome,not-classified epilepsy since the third month of life, fever"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome?"	""
"0000156736"	"00198"	"00036878"	"01164"	"Unknown"	""	"epilepsy; other patient: early child myoklonic epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156737"	"00198"	"00036880"	"01164"	"Unknown"	""	"developmental delay"	""	""	""	""	""	""	""	""	""	""	"developmental delay"	""
"0000156738"	"00198"	"00036882"	"01164"	"Unknown"	""	"generalized epilepsy, developmental delay, migraine"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156739"	"00198"	"00036883"	"01164"	"Unknown"	""	"generalized epilepsy, developmental delay, migraine"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000156740"	"00198"	"00036885"	"01164"	"Unknown"	""	"relapsing seizures with or without fever"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000156741"	"00198"	"00036888"	"01164"	"Unknown"	""	"third day of life: seizures, hypotonia, lactate increase, developmental delay; Vertikalnystagmus (DD epilepsy)"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000156742"	"00198"	"00036889"	"01164"	"Unknown"	""	"Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000156743"	"00198"	"00036891"	"01164"	"Unknown"	""	"therapy-refraktory Myoklonusepilepsy; other patient:  POLG1-mutation, therapy-resistent epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000157248"	"00198"	"00208625"	"01164"	"Unknown"	""	"HP:0002373 (Febrile seizures); HP:0001250 (Seizures); HP:0012638 (Abnormality of nervous system physiology)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000157375"	"00198"	"00208757"	"01164"	"Unknown"	""	"HP:0002373 (Febrile seizures); HP:0007359 (Focal seizures)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000158754"	"00198"	"00210187"	"01164"	"Unknown"	""	"HP:0012638 (Abnormality of nervous system physiology); HP:0012469 (Infantile spasms)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000159275"	"00353"	"00210710"	"00006"	"Familial, autosomal dominant"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000159276"	"00353"	"00210711"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000159277"	"00353"	"00210712"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"febrile seizures plu"	""
"0000159278"	"00353"	"00210713"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000159279"	"00353"	"00210714"	"00006"	"Familial, autosomal dominant"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000159280"	"00353"	"00210715"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000159281"	"00353"	"00210716"	"00006"	"Isolated (sporadic)"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"EIEE-6"	"Dravet syndrome"	""
"0000180000"	"04270"	"00239790"	"03250"	"Unknown"	"00y10m"	"persistent crisis of atipical febrile seizures"	""	""	""	""	""	""	""	""	""	""	""	""
"0000207365"	"00787"	"00269534"	"03512"	"Unknown"	""	"Epileptic encephalopathy (HP:0200134)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000207697"	"00198"	"00269901"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000210200"	"00198"	"00275580"	"01164"	"Unknown"	""	"Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000220826"	"00198"	"00287090"	"01164"	"Unknown"	""	"Generalized tonic-clonic seizures (HP:0002069); Generalized myoclonic seizures (HP:0002123); Febrile seizures (HP:0002373)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000221956"	"00198"	"00288219"	"00006"	"Isolated (sporadic)"	"11y"	"synophrys, seizures, numerous nevi, developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223029"	"00198"	"00289417"	"01164"	"Unknown"	""	"Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Absence seizures (HP:0002121); Generalized seizures (HP:0002197); EEG abnormality (HP:0002353); Microcephaly (HP:0000252); Feeding difficulties in infancy (HP:0008872)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223112"	"00198"	"00295547"	"01164"	"Unknown"	""	"Abnormality of nervous system physiology (HP:0012638); Focal seizures (HP:0007359); Generalized tonic seizures (HP:0010818)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223409"	"00198"	"00295933"	"01164"	"Unknown"	""	"Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Hyperammonemia (HP:0001987); Generalized myoclonic seizures (HP:0002123)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223462"	"00198"	"00295995"	"01164"	"Unknown"	""	"Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223465"	"00198"	"00295998"	"01164"	"Unknown"	""	"Seizures (HP:0001250); Iris coloboma (HP:0000612); Unilateral microphthalmos (HP:0011480); Amblyopia (HP:0000646)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000223937"	"00198"	"00296531"	"01164"	"Unknown"	""	"Anemia of inadequate production (HP:0010972); Global developmental delay (HP:0001263); Neurodevelopmental abnormality (HP:0012759); Iron deficiency anemia (HP:0001891)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000224069"	"00198"	"00296668"	"01164"	"Unknown"	""	"Immunologic hypersensitivity (HP:0100326); Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Generalized tonic-clonic seizures (HP:0002069); Abnormality of the lung (HP:0002088); Febrile seizures (HP:0002373)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000228526"	"00841"	"00301256"	"03512"	"Isolated (sporadic)"	""	""	""	""	""	""	""	"yes"	""	""	""	""	""	""
"0000228528"	"00344"	"00301258"	"03512"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228564"	"00198"	"00301386"	"01164"	"Unknown"	""	"Feeding difficulties (HP:0011968); Abnormality of nervous system physiology (HP:0012638); Generalized myoclonic seizures (HP:0002123)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000228580"	"00198"	"00301402"	"01164"	"Unknown"	""	"Seizures (HP:0001250)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000230130"	"05521"	"00303047"	"00006"	"Isolated (sporadic)"	""	"Unclassified epilepsy; age onset infantile"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000230132"	"05521"	"00303049"	"00006"	"Isolated (sporadic)"	""	"Epileptic Encephalopathy, Dravet syndrome; age onset infantile"	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000230195"	"00344"	"00303111"	"00006"	"Isolated (sporadic)"	""	"Dravet"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230196"	"00344"	"00303112"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy-Aphasia, febrile seizures plus"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230197"	"00344"	"00303113"	"00006"	"Isolated (sporadic)"	""	"early onset epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230198"	"00344"	"00303114"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy-Aphasia, febrile seizures plus"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230199"	"00344"	"00303115"	"00006"	"Isolated (sporadic)"	""	"Epilepsy-Aphasia"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230200"	"00344"	"00303116"	"00006"	"Familial, autosomal dominant"	""	"Dravet (intractable childhood epilepsy with generalized tonic clonic seizures) 29"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230201"	"00344"	"00303117"	"00006"	"Unknown"	""	"Dravet"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230202"	"00344"	"00303118"	"00006"	"Isolated (sporadic)"	""	"Dravet"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230238"	"00344"	"00303154"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230239"	"00344"	"00303155"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230240"	"00344"	"00303156"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230241"	"00344"	"00303157"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230242"	"00344"	"00303158"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000230243"	"00344"	"00303159"	"00006"	"Unknown"	""	"epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	"epileptic encephalopathy"	""
"0000231760"	"05611"	"00305913"	"00006"	"Isolated (sporadic)"	"43y"	"kyphoscoliosis with gibbus, ogival palate; 5-10y-onset motor regressio, 15y-severe motor problems; 11m-first words, 5y-speech skills at level of 2.5y, expressive language problems, dysarthria; 28y-wheelchair-bound; 35y-dysphagia with aspiration and esophageal reflux; completely dependent, wheelchair bound; ataxia, choreoathetosis, generalized dystonia; divergent strabismus, mild proptosis; hyperreflexia; axial hypotonia; intellectual disability (first years); 13.5m-febrile seizures, photosensitive epilepsy, myoclonic epilepsy; EEG 10y-abnormal, 13y-diffuse slowing, bilateral generalized bursts of spikes and waves and polyspikes; MRI brain 34y-atrophy (cerebral, cerebellar, brainstem, corpus callosum); muscle biopsy normal"	""	""	""	""	""	""	""	""	""	""	""	""
"0000231839"	"04270"	"00305993"	"00006"	"Unknown"	"41y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"developmental and epileptic encephalopathy"	""
"0000231840"	"04270"	"00305994"	"00006"	"Isolated (sporadic)"	"28y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"multifocal epilepsy"	""
"0000231841"	"04270"	"00305995"	"00006"	"Unknown"	"30y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"developmental and epileptic encephalopathy"	""
"0000231842"	"04270"	"00305996"	"00006"	"Isolated (sporadic)"	"45y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"focal epilepsy"	""
"0000231843"	"04270"	"00305997"	"00006"	"Isolated (sporadic)"	"37y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"focal epilepsy"	""
"0000231844"	"04270"	"00305998"	"00006"	"Unknown"	"39y"	"severe intellectual disability, crouch gait, onset of an intractable multifocal epilepsy with daily myoclonic, weekly GTCs and rare tonic seizures at 2m; time of referral weekly GTCs despite treatment with LGT, topiramate (TPM), LCM, vigabatrine (VGB), and clonazepam (CLZ); following genetic diagnosis tapered off LTG, LCM and VGB, experienced significant seizure reduction, improved cognitive function, more present and alert"	""	""	""	""	""	""	""	""	""	"Dravet syndrome;EIEE6"	"developmental and epileptic encephalopathy"	""
"0000231845"	"04270"	"00305999"	"00006"	"Unknown"	"57y"	"moderate-severe intellectual disability, tremor, periods with psychosis, first years of life onset unclassifiable epilepsy with myoclonic seizures, atypical absences and GTCs; at referral for genetic testing average two GTCS per month, recently very tired, drooling, starting to walk with a broad-based gait; treated with levetiracetam (LEV), VPA and LGT; following genetic diagnosis tapered off LTG, slight seizure reduction (currently one GTC per month), increased vocabulary, more stable gait, improvement in overall well-being, currently treated with LEV and VPA"	""	""	""	""	""	""	""	""	""	"Dravet syndrome;EIEE6"	"developmental and epileptic encephalopathy"	""
"0000231846"	"04270"	"00306000"	"00006"	"Unknown"	"48y"	"severe intellectual disability; 6m-onset unclassified epilepsy with febrile seizures, myoclonic seizures, atypical absences, focal seizures and GTCs; at time referral 1-6 GTCs (occurred mainly during daytime) and 2 focal seizures per month, treated with VPA, LGT and CLZ, months prior to the referral  treated with LCM which gave rise to novel seizure type (atypical absence), and ZNS which had adverse effects in form of fatigue, reduced appetite, weight loss,increased seizure frequency (from monthly GTCs to daily).; after genetic diagnosis tapered off LTG and CLZ which resulted in slight seizure reduction, currently 2 short nocturnal GTCs per month, treated with VPA, CLB and stiripentol"	""	""	""	""	""	""	""	""	""	"Dravet syndrome;EIEE6"	"focal epilepsy"	""
"0000231847"	"04270"	"00306001"	"00006"	"Unknown"	"24y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"developmental and epileptic encephalopathy"	""
"0000231848"	"04270"	"00306002"	"00006"	"Isolated (sporadic)"	"41y"	"severe intellectual disability; 6m-onset LGS with atypical absences, myoclonic and focal seizures and GTCS; at time referral daily seizures despite treatment with VPA, LTG, CLZ, phenobarbital (PB) and ethosuximide (ETX); following genetic diagnosis tapered off LTG (10y-duration treatment) went from daily generalized seizures, with a duration up to 20-60 minutes to 5-10 seizures per month, none of them more than a couple of minutes in duration, many focal instead of generalized, increased activity level, attention span and initiative, currently treated with ETX, PB, VPA and CLZ"	""	""	""	""	""	""	""	""	""	"Dravet syndrome;EIEE6"	"Lennox Gastaut syndrome"	""
"0000231849"	"04270"	"00306003"	"00006"	"Unknown"	"52y"	"severe intellectual disability; 8m-onset unclassified DEE with prolonged febrile seizures, myoclonic seizures, atypical absences, astatic seizures, status epilepticus and GTCs; at time referral suffered from daily seizures despite treatment with VPA, CBZ and LGT; following genetic diagnosis tapered off LTG and CBZ, seizure control and cognitive function improved remarkable, significantly improved levels of energy and mood; 50y-deceased of pneumonia"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"developmental and epileptic encephalopathy"	""
"0000231850"	"04270"	"00306004"	"00006"	"Unknown"	"31y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"developmental and epileptic encephalopathy"	""
"0000231851"	"04270"	"00306005"	"00006"	"Isolated (sporadic)"	"33y"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	"Lennox Gastaut syndrome"	""
"0000231852"	"04270"	"00306006"	"00006"	"Isolated (sporadic)"	"46y"	"severe intellectual disability; 2m-onset unclassifiable DEE with febrile seizures, focal seizures and GTCS; following genetic diagnosis tapered off CBZ and ZNS, seizure control and eye contact improved"	""	""	""	""	""	""	""	""	""	"Dravet syndrome;EIEE6"	"focal epilepsy"	""
"0000231853"	"04270"	"00306007"	"00006"	"Isolated (sporadic)"	"23y"	""	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000231854"	"04270"	"00306008"	"00006"	"Unknown"	"22y"	""	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000231855"	"04270"	"00306009"	"00006"	"Isolated (sporadic)"	"22y"	""	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000233390"	"00139"	"00307967"	"00006"	"Isolated (sporadic)"	"12y"	"see paper; ..., Seizures, Developmental regression, Hyporeflexia"	""	""	""	""	""	""	""	""	""	""	"intellectual diability"	""
"0000241754"	"00353"	"00317970"	"01164"	"Unknown"	"05y"	"Febrile seizure (within the age range of 3 months to 6 years); Generalized-onset seizure"	""	""	""	""	""	""	""	""	""	""	""	""
"0000241772"	"00139"	"00317988"	"00006"	"Familial, autosomal recessive"	""	"Mild to moderate ID, physically weak in one sibship, congenital deafness, familial hemiplegic migraine, febrile seizures"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000242046"	"02866"	"00320002"	"01164"	"Familial"	""	"Migraine, Hemiplegia"	""	""	""	""	""	""	""	""	""	""	""	""
"0000243889"	"00198"	"00325402"	"00006"	"Isolated (sporadic)"	""	"4m-onset seizures; focal clonic seizures, general tonic seizures; profound intellectual disability"	""	"5m"	""	""	""	""	""	""	""	""	"developmental epileptic encephalopathy"	""
"0000243890"	"00198"	"00325403"	"00006"	"Isolated (sporadic)"	""	"5m-onset seizures; focal clonic seizures, general tonic seizures; profound intellectual disability"	""	"8m"	""	""	""	""	""	""	""	""	"developmental epileptic encephalopathy"	""
"0000257438"	"04270"	"00362024"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"progressive myoclonus epilepsy"	""
"0000269670"	"00198"	"00374460"	"00006"	"Familial, autosomal dominant"	""	"Febrile and afebrile generalized seizures at 2.5 months of age"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269671"	"00198"	"00374461"	"00006"	"Familial, autosomal dominant"	""	"Seizures starting at the age of three months, developmental delay, hyperactivity, attention and cognitive deficit and is currently on multiple anti epileptic drugs"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000269672"	"00198"	"00374462"	"00006"	"Familial, autosomal dominant"	""	"Encephalopathy, seizures, regression of milestones and photosensitivity"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269673"	"00198"	"00374463"	"00006"	"Familial, autosomal dominant"	""	"Febrile focal seizures"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000269674"	"00198"	"00374464"	"00006"	"Familial, autosomal dominant"	""	"Global developmental delay, both febrile and afebrile seizures since three months of age. Brain MRI showed unmyelinated white matter and FLAIR hyperintensities in bilateral parietal periventricular white matter"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269675"	"00198"	"00374465"	"00006"	"Familial, autosomal dominant"	""	"Features of Dravet syndrome"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269676"	"00198"	"00374466"	"00006"	"Familial, autosomal dominant"	""	"Swelling on left side of neck at birth and seizures with clonic jerking"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269677"	"00198"	"00374467"	"00006"	"Familial, autosomal dominant"	""	"Refractory epilepsy"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269678"	"00198"	"00374468"	"00006"	"Familial, autosomal dominant"	""	"Seizures"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000269679"	"00198"	"00374469"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy and recurrent febrile seizures"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000269680"	"00198"	"00374470"	"00006"	"Familial, autosomal dominant"	""	"Recurrent seizures, mild motor delay and mild microcephaly"	""	""	""	""	""	""	""	""	""	""	"epilepsy, microcephaly"	""
"0000269681"	"00198"	"00374471"	"00006"	"Familial, autosomal dominant"	""	"Focal and myoclonic seizures"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000269682"	"00198"	"00374472"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy, global developmental delay with hyperactivity and autistic features"	""	""	""	""	""	""	""	""	""	""	"epilepsy, autism spectrum disorder"	""
"0000269683"	"00198"	"00374473"	"00006"	"Familial, autosomal dominant"	""	"Epilepsy, myoclonic jerks in the upper limb, hypotonia, hyporeflexia, hypotension, metabolic acidosis, hepatic and renal failure"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269684"	"00198"	"00374474"	"00006"	"Familial, autosomal dominant"	""	"Seizures from the age of 5 months"	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269772"	"00198"	"00374562"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269823"	"00198"	"00374613"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269834"	"00198"	"00374624"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269835"	"00198"	"00374625"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000269836"	"00198"	"00374626"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000270041"	"00198"	"00374831"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000270042"	"00198"	"00374832"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000270043"	"00198"	"00374833"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000270044"	"00198"	"00374834"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy, microcephaly"	""
"0000270045"	"00198"	"00374835"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000280301"	"00198"	"00386495"	"00006"	"Unknown"	""	"early seizures (neurological)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000280302"	"00198"	"00386496"	"00006"	"Unknown"	""	"early seizures (neurological)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000281845"	"00353"	"00388292"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"DRVT"	""	""
"0000281846"	"00353"	"00388293"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"DRVT"	""	""
"0000281847"	"00353"	"00388294"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"DRVT"	""	""
"0000288730"	"02510"	"00395532"	"01164"	"Familial, autosomal dominant"	""	"Febrile seizure outside the age of 3 months to 6 years; In the first 3 years of life already at least 13 fever-related seizures with normal development so far, father and paternal uncle had febrile convulsions up to the age of 13, were treated with medication, known febrile convulsions also in the family on the mother\'s side, younger sister also affected, EEG and MRI so far unremarkable"	""	""	""	""	""	""	""	""	""	"3y"	""	""
"0000296556"	"05611"	"00403876"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000309244"	"02510"	"00417877"	"01164"	"Familial, autosomal dominant"	"02y"	"seizure, suspected genetic epilepsy, maternal grandmother died of epilepsy or had many epileptic seizures."	""	""	""	""	""	""	""	""	""	""	"1y"	""
"0000318759"	"04270"	"00427785"	"00006"	"Isolated (sporadic)"	"9y"	"intellectual disability; febrile seizures, secondary generalized tonic-clonic, myoclonic, frequency 7-8/m; EEG focal spike wave; MRI brain bi-hippo, atrophy?; resistant to antiepileptic drugs"	"5m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318760"	"04270"	"00427786"	"00006"	"Isolated (sporadic)"	"6y"	"intellectual disability; febrile seizures, complex partial seizure, generalized tonic-clonic, frequency 4-6/m; EEG multifocal discharges; MRI brain nonspecific; resistant to antiepileptic drugs"	"8m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318761"	"04270"	"00427787"	"00006"	"Isolated (sporadic)"	"12y"	"intellectual disability; febrile seizures, generalized tonic-clonic, complex partial seizure, frequency 1-7/m; EEG focal spike wave; MRI brain nonspecific; resistant to antiepileptic drugs"	"7m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318762"	"04270"	"00427788"	"00006"	"Isolated (sporadic)"	"3y"	"intellectual disability; febrile seizures, myoclonic, secondary generalized tonic-clonic, frequency 40-50/d; EEG focal spike wave; MRI brain normal; resistant to antiepileptic drugs"	"1m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318763"	"04270"	"00427789"	"00006"	"Isolated (sporadic)"	"3y"	"intellectual disability; febrile seizures, complex partial seizure, generalized tonic-clonic, frequency 3-4/m; EEG focal spike wave; MRI brain normal; resistant to antiepileptic drugs"	"7m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318764"	"04270"	"00427790"	"00006"	"Unknown"	"7y"	"intellectual disability; febrile seizures, generalized tonic-clonic, myoclonic, complex partial seizure, frequency 1/3 m; EEG multifocal discharges; MRI brain R hippo, atrophy; remitted to antiepileptic drugs"	"9m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318765"	"04270"	"00427791"	"00006"	"Unknown"	"4y"	"intellectual disability; febrile seizures, complex partial seizure, generalized tonic-clonic, myoclonic, frequency 1-4/m; EEG generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs"	"5m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318766"	"04270"	"00427792"	"00006"	"Unknown"	"4y"	"intellectual disability; febrile seizures, generalized tonic-clonic, complex partial seizure, myoclonic, frequency 1-9/m; EEG generalized spike wave; MRI brain slight atrophy; remitted to antiepileptic drugs"	"4m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318787"	"00344"	"00427813"	"00006"	"Isolated (sporadic)"	"14y05m"	"birth at term after preterm labor, large for gestational age, C-section (breech); seizures prolonged febrile generalized tonic-clonic, generalized tonic-clonic, myoclonic, tonic, Dravet syndrome suspected, now refractory; EEG 5m-normal, 2y6m-generalized spike-and-wave; epileptic encephalopathy, 1y-nnormal then progressive delay; poor coordination, unsteady gait, speaks 2–3 word phrases, no reading, no math"	""	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000318788"	"00344"	"00427814"	"00006"	"Isolated (sporadic)"	"04y"	"preeclampsia, gestational diabetes (insulin), birth at term, nuchal cord, brief O2; vaccine-related febrile generalized tonic-clonic and hemiclonic seizures, generalized tonic-clonic and hemiclonic febrile and nonfebrile, some prolonged, Dravet syndrome suspected, now refractory; EEG 6m-normal, 4y-bifrontal spikes; epileptic encephalopathy; normal motor development; language delay with limited progression, some regression (uses 2–3-word phrases); decreased coordination"	"00y06m"	""	""	""	""	""	""	""	""	""	"Dravet syndrome"	""
"0000325599"	"04270"	"00435408"	"03288"	"Familial, autosomal recessive"	"39y"	"Myoclonic seizures"	""	"39y"	""	""	""	""	""	""	""	"39"	"Epilepsy"	""
"0000328213"	"04270"	"00438309"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures"	"8y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328225"	"04270"	"00438321"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures"	"7y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328253"	"04270"	"00438349"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0002373 febrile seizures; HP:0002333 motor deterioration; HP:0001249 intellectual disability"	"1y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328259"	"04270"	"00438355"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures"	"14m"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328275"	"04270"	"00438371"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0002133 status epilepticus; HP:0007359 focal seizures; HP:0002384 focal seizures with impairment of consciousness or awareness; HP:0012704 widened subarachnoid space"	"2y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328288"	"04270"	"00438384"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0002151 increased serum lactate"	"1y"	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000328471"	"06906"	"00438568"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328480"	"06906"	"00438577"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328505"	"06906"	"00438602"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328567"	"06906"	"00438664"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328597"	"06906"	"00438694"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328618"	"06906"	"00438715"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000333044"	"04270"	"00443770"	"03288"	"Familial, autosomal recessive"	"44"	"Myoclonic seizures"	""	""	""	""	""	""	""	""	""	""	""	""
"0000337138"	"00841"	"00447945"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language delay; seizure types hemiclonic, prolonged febrile, generalized tonic clonic, focal tonic; EEG Focal slowing, generalized spike wave; MRI brain normal"	"4m"	""	""	""	""	""	""	""	""	"DEE6B"	"early infantile epileptic encephalopathy"	""
"0000344349"	"00198"	"00455816"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE6"	"neurogenetic diseases"	""
"0000344352"	"00198"	"00455819"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE6"	"neurogenetic diseases"	""
"0000344362"	"00198"	"00455829"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE6"	"neurogenetic diseases"	""
"0000344394"	"00198"	"00455861"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"DEE6"	"neurogenetic diseases"	""
"0000346979"	"00353"	"00458547"	"01164"	"Isolated (sporadic)"	"07y"	"Seizure, Febrile seizure outside the age of 3 months to 6 years, Neurodevelopmental delay, Motor delay, Delayed speech and language development, Hypotonia, Abnormal brain morphology, Poor gross motor coordination, Sleep abnormality"	""	""	""	""	""	""	""	""	""	""	""	""
"0000351362"	"00353"	"00465969"	"01164"	"Isolated (sporadic)"	"01y"	"HPO: Seizure; Seizures since the 7th month of life, a variety of medications tried, no seizure relief achieved"	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 329
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000016249"	"00016320"	"1"	"00681"	"00681"	"2014-03-12 11:58:38"	"00006"	"2014-03-14 16:20:01"	"SEQ-NG-I"	"DNA"	""	""
"0000016252"	"00016323"	"1"	"00681"	"00681"	"2014-03-12 13:56:56"	"00006"	"2014-03-14 16:31:00"	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000036853"	"00036783"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036854"	"00036784"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036855"	"00036785"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036856"	"00036786"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036857"	"00036787"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036858"	"00036788"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036859"	"00036789"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036860"	"00036790"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036861"	"00036791"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036862"	"00036792"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036863"	"00036793"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036864"	"00036794"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036865"	"00036795"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036866"	"00036796"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036867"	"00036797"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036868"	"00036798"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036869"	"00036799"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036870"	"00036800"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036871"	"00036801"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036872"	"00036802"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036873"	"00036803"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036874"	"00036804"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036875"	"00036805"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036876"	"00036806"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036877"	"00036807"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036878"	"00036808"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036879"	"00036809"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036880"	"00036810"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036881"	"00036811"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036882"	"00036812"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036883"	"00036813"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036884"	"00036814"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036885"	"00036815"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036886"	"00036816"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036887"	"00036817"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036888"	"00036818"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036889"	"00036819"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036890"	"00036820"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036891"	"00036821"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036892"	"00036822"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036893"	"00036823"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036894"	"00036824"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036895"	"00036825"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036896"	"00036826"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036897"	"00036827"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036898"	"00036828"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036899"	"00036829"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036900"	"00036830"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036901"	"00036831"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036902"	"00036832"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036903"	"00036833"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036904"	"00036834"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036905"	"00036835"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036906"	"00036836"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036907"	"00036837"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036908"	"00036838"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036909"	"00036839"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036910"	"00036840"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036911"	"00036841"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036912"	"00036842"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036913"	"00036843"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036914"	"00036844"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036915"	"00036845"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036916"	"00036846"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036917"	"00036847"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036918"	"00036848"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036919"	"00036849"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036920"	"00036850"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036921"	"00036851"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036922"	"00036852"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036923"	"00036853"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036924"	"00036854"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036925"	"00036855"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036926"	"00036856"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036927"	"00036857"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036928"	"00036858"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036929"	"00036859"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036930"	"00036860"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036931"	"00036861"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036932"	"00036862"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036933"	"00036863"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036934"	"00036864"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036935"	"00036865"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036936"	"00036866"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036937"	"00036867"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036938"	"00036868"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036939"	"00036869"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036940"	"00036870"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036941"	"00036871"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036942"	"00036872"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036943"	"00036873"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036944"	"00036874"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036945"	"00036875"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036946"	"00036876"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036947"	"00036877"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036948"	"00036878"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036949"	"00036879"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036950"	"00036880"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036951"	"00036881"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036952"	"00036882"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036953"	"00036883"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036954"	"00036884"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036955"	"00036885"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036956"	"00036886"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036957"	"00036887"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036958"	"00036888"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036959"	"00036889"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036960"	"00036890"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036961"	"00036891"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000050418"	"00050473"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050652"	"00050707"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000080974"	"00080862"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000117285"	"00116817"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117354"	"00116886"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117410"	"00116942"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117422"	"00116954"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117506"	"00117023"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117528"	"00117053"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117573"	"00117103"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000166125"	"00165247"	"1"	"00753"	"00753"	"2012-07-25 13:19:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000166126"	"00165248"	"1"	"00753"	"00753"	"2012-07-25 13:05:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000166127"	"00165249"	"1"	"00753"	"00753"	"2012-07-25 13:34:56"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000166128"	"00165250"	"1"	"00753"	"00753"	"2012-07-25 13:46:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000166129"	"00165251"	"1"	"00753"	"00753"	"2012-07-25 14:35:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000166130"	"00165252"	"1"	"00753"	"00753"	"2010-12-23 16:05:08"	"00753"	"2011-01-28 12:19:44"	"SEQ"	"DNA"	""	""
"0000166131"	"00165253"	"1"	"00753"	"00753"	"2010-12-23 16:11:14"	"00753"	"2011-01-28 12:20:23"	"SEQ"	"DNA"	""	""
"0000166132"	"00165254"	"1"	"00753"	"00753"	"2010-12-23 16:15:53"	"00753"	"2011-01-28 12:21:03"	"SEQ"	"DNA"	""	""
"0000166133"	"00165255"	"1"	"00753"	"00753"	"2010-12-23 16:24:03"	"00753"	"2011-01-28 12:21:38"	"SEQ"	"DNA"	""	""
"0000166134"	"00165256"	"1"	"00753"	"00753"	"2010-12-23 12:37:14"	"00753"	"2012-04-19 11:59:24"	"SEQ"	"DNA"	""	""
"0000166135"	"00165257"	"1"	"00753"	"00753"	"2011-01-28 11:20:21"	"00753"	"2012-04-19 11:58:41"	"SEQ"	"DNA"	""	""
"0000166136"	"00165258"	"1"	"00753"	"00753"	"2010-12-23 13:01:39"	"00753"	"2012-04-19 11:59:57"	"SEQ"	"DNA"	""	""
"0000166137"	"00165259"	"1"	"00753"	"00753"	"2010-12-23 14:39:24"	"00753"	"2012-04-19 12:00:26"	"SEQ"	"DNA"	""	""
"0000166138"	"00165260"	"1"	"00753"	"00753"	"2010-12-23 14:52:30"	"00753"	"2012-04-19 12:01:01"	"SEQ"	"DNA"	""	""
"0000166139"	"00165261"	"1"	"00753"	"00753"	"2010-12-23 15:01:38"	"00753"	"2012-04-19 12:01:35"	"SEQ"	"DNA"	""	""
"0000166140"	"00165262"	"1"	"00753"	"00753"	"2010-12-23 15:07:12"	"00753"	"2011-01-28 12:14:00"	"SEQ"	"DNA"	""	""
"0000166141"	"00165263"	"1"	"00753"	"00753"	"2010-12-23 15:20:52"	"00753"	"2011-01-28 12:14:42"	"SEQ"	"DNA"	""	""
"0000166142"	"00165264"	"1"	"00753"	"00753"	"2010-12-23 15:27:46"	"00753"	"2011-01-28 12:15:24"	"SEQ"	"DNA"	""	""
"0000166143"	"00165265"	"1"	"00753"	"00753"	"2010-12-23 15:36:01"	"00753"	"2011-01-28 12:16:06"	"SEQ"	"DNA"	""	""
"0000166144"	"00165266"	"1"	"00753"	"00753"	"2010-12-23 15:42:28"	"00753"	"2011-01-28 12:16:41"	"SEQ"	"DNA"	""	""
"0000166145"	"00165267"	"1"	"00753"	"00753"	"2010-12-23 15:46:29"	"00753"	"2011-01-28 12:17:59"	"SEQ"	"DNA"	""	""
"0000166146"	"00165268"	"1"	"00753"	"00753"	"2010-12-23 15:53:43"	"00753"	"2011-01-28 12:18:35"	"SEQ"	"DNA"	""	""
"0000166147"	"00165269"	"1"	"00753"	"00753"	"2010-12-23 16:00:05"	"00753"	"2011-01-28 12:19:09"	"SEQ"	"DNA"	""	""
"0000166148"	"00165270"	"1"	"00753"	"00753"	"2010-12-17 12:07:31"	"00753"	"2011-02-01 17:08:18"	"SEQ"	"DNA"	""	""
"0000166149"	"00165271"	"1"	"00753"	"00753"	"2010-12-17 12:17:46"	"00753"	"2011-02-01 17:09:50"	"SEQ"	"DNA"	""	""
"0000166150"	"00165272"	"1"	"00753"	"00753"	"2010-12-17 12:24:55"	"00753"	"2012-04-19 11:54:31"	"SEQ"	"DNA"	""	""
"0000166151"	"00165273"	"1"	"00753"	"00753"	"2010-12-17 11:45:35"	"00753"	"2011-02-01 17:05:47"	"SEQ"	"DNA"	""	""
"0000166152"	"00165274"	"1"	"00753"	"00753"	"2010-12-17 12:33:52"	"00753"	"2012-04-19 11:56:04"	"SEQ"	"DNA"	""	""
"0000166153"	"00165275"	"1"	"00753"	"00753"	"2010-12-17 12:29:42"	"00753"	"2012-04-19 11:55:07"	"SEQ"	"DNA"	""	""
"0000166154"	"00165276"	"1"	"00753"	"00753"	"2010-12-17 12:40:26"	"00753"	"2012-04-19 11:56:40"	"SEQ"	"DNA"	""	""
"0000166155"	"00165277"	"1"	"00753"	"00753"	"2012-02-14 11:16:32"	"00753"	"2012-04-18 10:37:24"	"PCR;SEQ"	"DNA"	""	""
"0000166156"	"00165278"	"1"	"00753"	"00753"	"2012-04-11 17:04:03"	"00753"	"2012-04-18 10:56:52"	"PCR;SEQ"	"DNA"	""	""
"0000166157"	"00165279"	"1"	"00753"	"00753"	"2011-10-10 16:52:18"	"00753"	"2011-11-04 13:02:37"	"PCR;SEQ"	"DNA"	""	""
"0000166158"	"00165280"	"1"	"00753"	"00753"	"2012-06-28 15:54:16"	"00753"	"2012-07-20 12:34:40"	"PCR;SEQ"	"DNA"	""	""
"0000166159"	"00165281"	"1"	"00753"	"00753"	"2012-06-28 16:00:02"	"00753"	"2012-07-20 12:38:30"	"PCR;SEQ"	"DNA"	""	""
"0000166160"	"00165282"	"1"	"00753"	"00753"	"2012-06-28 15:37:10"	"00753"	"2012-07-20 11:19:51"	"SEQ"	"DNA"	""	""
"0000166161"	"00165283"	"1"	"00753"	"00753"	"2012-06-28 16:05:52"	"00753"	"2012-07-20 12:40:55"	"PCR;SEQ"	"DNA"	""	""
"0000166162"	"00165284"	"1"	"00753"	"00753"	"2012-06-28 16:11:36"	"00753"	"2012-07-20 12:44:32"	"PCR;SEQ"	"DNA"	""	""
"0000166163"	"00165285"	"1"	"00753"	"00753"	"2012-07-06 10:53:44"	"00753"	"2012-07-20 13:14:35"	"PCR;SEQ"	"DNA"	""	""
"0000166164"	"00165286"	"1"	"00753"	"00753"	"2012-07-06 10:45:26"	"00753"	"2012-07-20 13:03:49"	"PCR;SEQ"	"DNA"	""	""
"0000166165"	"00165287"	"1"	"00753"	"00753"	"2012-07-06 11:03:55"	"00753"	"2012-07-20 13:17:22"	"PCR;SEQ"	"DNA"	""	""
"0000177901"	"00177009"	"1"	"02552"	"02552"	"2018-08-16 11:14:28"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000177902"	"00177010"	"1"	"02552"	"02552"	"2018-08-16 11:23:44"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000177903"	"00177011"	"1"	"02552"	"02552"	"2018-08-16 11:27:11"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000181059"	"00180156"	"1"	"00006"	"00006"	"2018-08-24 19:40:22"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000182148"	"00181190"	"1"	"02552"	"02552"	"2018-10-02 17:38:25"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000208840"	"00207799"	"1"	"01164"	"01164"	"2018-11-30 14:45:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000209032"	"00207985"	"1"	"01164"	"01164"	"2018-12-06 11:38:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000209674"	"00208625"	"1"	"01164"	"01164"	"2018-12-12 12:06:13"	""	""	"SEQ-NG"	"DNA"	""	""
"0000209806"	"00208757"	"1"	"01164"	"01164"	"2018-12-14 14:03:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000211263"	"00210187"	"1"	"01164"	"01164"	"2018-12-27 15:49:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000211786"	"00210710"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000211787"	"00210711"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000211788"	"00210712"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000211789"	"00210713"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000211790"	"00210714"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000211791"	"00210715"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	"00006"	"2018-12-28 15:33:30"	"arrayCGH"	"DNA"	""	""
"0000211792"	"00210716"	"1"	"00006"	"00006"	"2018-12-28 15:02:47"	"00006"	"2018-12-28 15:39:19"	"arrayCGH"	"DNA"	""	""
"0000241458"	"00239790"	"1"	"03250"	"03250"	"2019-06-13 17:23:50"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000270688"	"00269534"	"1"	"03512"	"03512"	"2019-11-29 11:32:33"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000271054"	"00269901"	"1"	"01807"	"01807"	"2019-12-10 12:32:13"	""	""	"SEQ"	"DNA"	""	""
"0000276738"	"00275580"	"1"	"01164"	"01164"	"2020-01-09 21:03:33"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000288255"	"00287090"	"1"	"01164"	"01164"	"2020-02-12 11:23:36"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000289388"	"00288219"	"1"	"00006"	"00006"	"2020-02-16 14:03:09"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"blood, fibroblast"	"WES"
"0000290587"	"00289417"	"1"	"01164"	"01164"	"2020-03-09 11:33:24"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000293484"	"00292316"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293485"	"00292317"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293486"	"00292318"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293487"	"00292319"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293488"	"00292320"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293489"	"00292321"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293490"	"00292322"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293491"	"00292323"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293492"	"00292324"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293493"	"00292325"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293494"	"00292326"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293495"	"00292327"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293496"	"00292328"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293497"	"00292329"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293498"	"00292330"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293499"	"00292331"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293500"	"00292332"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293501"	"00292333"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293502"	"00292334"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293503"	"00292335"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296341"	"00295173"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296460"	"00295292"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296717"	"00295547"	"1"	"01164"	"01164"	"2020-03-18 10:47:35"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297105"	"00295933"	"1"	"01164"	"01164"	"2020-03-30 10:44:33"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297166"	"00295995"	"1"	"01164"	"01164"	"2020-04-01 11:00:54"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297169"	"00295998"	"1"	"01164"	"01164"	"2020-04-01 11:01:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297641"	"00296531"	"1"	"01164"	"01164"	"2020-04-08 09:41:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000297778"	"00296668"	"1"	"01164"	"01164"	"2020-04-10 08:45:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000302379"	"00301256"	"1"	"03512"	"03512"	"2020-05-11 20:24:42"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000302381"	"00301258"	"1"	"03512"	"03512"	"2020-05-11 20:35:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000302507"	"00301386"	"1"	"01164"	"01164"	"2020-05-15 11:13:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000302523"	"00301402"	"1"	"01164"	"01164"	"2020-05-15 11:29:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000304172"	"00303047"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304174"	"00303049"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000304236"	"00303111"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304237"	"00303112"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304238"	"00303113"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304239"	"00303114"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304240"	"00303115"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304241"	"00303116"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304242"	"00303117"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304243"	"00303118"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304279"	"00303154"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304280"	"00303155"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304281"	"00303156"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304282"	"00303157"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304283"	"00303158"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000304284"	"00303159"	"1"	"00006"	"00006"	"2020-06-07 12:54:10"	""	""	"MIP;SEQ;SEQ-NG"	"DNA"	""	"65-gene panel"
"0000307043"	"00305913"	"1"	"00006"	"00006"	"2020-07-05 16:07:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000307123"	"00305993"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307124"	"00305994"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307125"	"00305995"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307126"	"00305996"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307127"	"00305997"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307128"	"00305998"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307129"	"00305999"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307130"	"00306000"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307131"	"00306001"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307132"	"00306002"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307133"	"00306003"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307134"	"00306004"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307135"	"00306005"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307136"	"00306006"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307137"	"00306007"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307138"	"00306008"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000307139"	"00306009"	"1"	"00006"	"00006"	"2020-07-06 16:08:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"candidate gene panel"
"0000309111"	"00307967"	"1"	"00006"	"00006"	"2020-08-23 13:31:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000319152"	"00317970"	"1"	"01164"	"01164"	"2020-11-05 09:49:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000319170"	"00317988"	"1"	"00006"	"00006"	"2020-11-05 17:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000321184"	"00320002"	"1"	"01164"	"01164"	"2020-11-17 11:59:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000326613"	"00325402"	"1"	"00006"	"00006"	"2021-01-02 12:18:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000326614"	"00325403"	"1"	"00006"	"00006"	"2021-01-02 12:18:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000327726"	"00326512"	"1"	"01741"	"01741"	"2021-01-13 12:07:14"	""	""	"SEQ"	"DNA"	""	""
"0000363252"	"00362024"	"1"	"00006"	"00006"	"2021-04-14 11:32:13"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000375654"	"00374460"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375655"	"00374461"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375656"	"00374462"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375657"	"00374463"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375658"	"00374464"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375659"	"00374465"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375660"	"00374466"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375661"	"00374467"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375662"	"00374468"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375663"	"00374469"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375664"	"00374470"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375665"	"00374471"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375666"	"00374472"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375667"	"00374473"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375668"	"00374474"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375756"	"00374562"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375807"	"00374613"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375818"	"00374624"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375819"	"00374625"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375820"	"00374626"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376025"	"00374831"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376026"	"00374832"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376027"	"00374833"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376028"	"00374834"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000376029"	"00374835"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000387722"	"00386495"	"1"	"00006"	"00006"	"2021-10-22 17:45:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000387723"	"00386496"	"1"	"00006"	"00006"	"2021-10-22 17:45:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000389533"	"00388292"	"1"	"00006"	"00006"	"2021-11-03 16:22:11"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000389534"	"00388293"	"1"	"00006"	"00006"	"2021-11-03 16:22:11"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000389535"	"00388294"	"1"	"00006"	"00006"	"2021-11-03 16:22:11"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000393102"	"00391860"	"1"	"02494"	"02494"	"2021-11-19 12:16:08"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000396770"	"00395532"	"1"	"01164"	"01164"	"2021-12-07 10:13:04"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000402887"	"00401644"	"1"	"02494"	"02494"	"2022-02-01 11:19:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000405114"	"00403876"	"1"	"00006"	"00006"	"2022-02-24 16:43:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000419172"	"00417877"	"1"	"01164"	"01164"	"2022-09-27 15:51:05"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000429108"	"00427785"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429109"	"00427786"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429110"	"00427787"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429111"	"00427788"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429112"	"00427789"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429113"	"00427790"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429114"	"00427791"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429115"	"00427792"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"
"0000429136"	"00427813"	"1"	"00006"	"00006"	"2022-12-13 13:34:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000429137"	"00427814"	"1"	"00006"	"00006"	"2022-12-13 13:34:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000436888"	"00435408"	"1"	"03288"	"03288"	"2023-07-24 10:56:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000439791"	"00438309"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439803"	"00438321"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439831"	"00438349"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439837"	"00438355"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439853"	"00438371"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000439866"	"00438384"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000440050"	"00438568"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440059"	"00438577"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440084"	"00438602"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440146"	"00438664"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440176"	"00438694"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440197"	"00438715"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	"00006"	"2023-10-21 22:17:41"	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000445266"	"00443770"	"1"	"03288"	"03288"	"2023-12-01 12:46:23"	""	""	"SEQ"	"DNA"	"blood"	""
"0000449449"	"00447877"	"1"	"03820"	"03820"	"2024-01-29 19:34:55"	""	""	"SEQ-NG"	"DNA"	""	""
"0000449516"	"00447945"	"1"	"00006"	"00006"	"2024-02-02 18:50:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000450262"	"00448671"	"1"	"04674"	"04674"	"2024-04-11 14:41:51"	"04674"	"2024-04-11 15:38:07"	"SEQ-NG-I"	"DNA"	""	""
"0000450264"	"00448673"	"1"	"04674"	"04674"	"2024-04-11 15:02:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000457432"	"00455816"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000457435"	"00455819"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000457445"	"00455829"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000457477"	"00455861"	"1"	"00006"	"00006"	"2024-10-20 15:03:37"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000460168"	"00458547"	"1"	"01164"	"01164"	"2024-12-18 13:02:10"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000467620"	"00465969"	"1"	"01164"	"01164"	"2025-06-26 12:35:06"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 242
"{{screeningid}}"	"{{geneid}}"
"0000016249"	"POLG"
"0000016249"	"SCN1A"
"0000016252"	"SCN1A"
"0000016252"	"SCN1B"
"0000036853"	"SCN1A"
"0000036854"	"SCN1A"
"0000036855"	"SCN1A"
"0000036856"	"SCN1A"
"0000036857"	"SCN1A"
"0000036858"	"SCN1A"
"0000036859"	"SCN1A"
"0000036860"	"SCN1A"
"0000036861"	"SCN1A"
"0000036862"	"SCN1A"
"0000036863"	"SCN1A"
"0000036864"	"SCN1A"
"0000036865"	"SCN1A"
"0000036866"	"SCN1A"
"0000036867"	"SCN1A"
"0000036868"	"SCN1A"
"0000036869"	"SCN1A"
"0000036870"	"SCN1A"
"0000036871"	"SCN1A"
"0000036872"	"SCN1A"
"0000036873"	"SCN1A"
"0000036874"	"SCN1A"
"0000036875"	"SCN1A"
"0000036876"	"SCN1A"
"0000036877"	"SCN1A"
"0000036878"	"SCN1A"
"0000036879"	"SCN1A"
"0000036880"	"SCN1A"
"0000036881"	"SCN1A"
"0000036882"	"SCN1A"
"0000036883"	"SCN1A"
"0000036884"	"SCN1A"
"0000036885"	"SCN1A"
"0000036886"	"SCN1A"
"0000036887"	"SCN1A"
"0000036888"	"SCN1A"
"0000036889"	"SCN1A"
"0000036890"	"SCN1A"
"0000036891"	"SCN1A"
"0000036892"	"SCN1A"
"0000036893"	"SCN1A"
"0000036894"	"SCN1A"
"0000036895"	"SCN1A"
"0000036896"	"SCN1A"
"0000036897"	"SCN1A"
"0000036898"	"SCN1A"
"0000036899"	"SCN1A"
"0000036900"	"SCN1A"
"0000036901"	"SCN1A"
"0000036902"	"SCN1A"
"0000036903"	"SCN1A"
"0000036904"	"SCN1A"
"0000036905"	"SCN1A"
"0000036906"	"SCN1A"
"0000036907"	"SCN1A"
"0000036908"	"SCN1A"
"0000036909"	"SCN1A"
"0000036910"	"SCN1A"
"0000036911"	"SCN1A"
"0000036912"	"SCN1A"
"0000036913"	"SCN1A"
"0000036914"	"SCN1A"
"0000036915"	"SCN1A"
"0000036916"	"SCN1A"
"0000036917"	"SCN1A"
"0000036918"	"SCN1A"
"0000036919"	"SCN1A"
"0000036920"	"SCN1A"
"0000036921"	"SCN1A"
"0000036922"	"SCN1A"
"0000036923"	"SCN1A"
"0000036924"	"SCN1A"
"0000036925"	"SCN1A"
"0000036926"	"SCN1A"
"0000036927"	"SCN1A"
"0000036928"	"SCN1A"
"0000036929"	"SCN1A"
"0000036930"	"SCN1A"
"0000036931"	"SCN1A"
"0000036932"	"SCN1A"
"0000036933"	"SCN1A"
"0000036934"	"SCN1A"
"0000036935"	"SCN1A"
"0000036936"	"SCN1A"
"0000036937"	"SCN1A"
"0000036938"	"SCN1A"
"0000036939"	"SCN1A"
"0000036940"	"SCN1A"
"0000036941"	"SCN1A"
"0000036942"	"SCN1A"
"0000036943"	"SCN1A"
"0000036944"	"SCN1A"
"0000036945"	"SCN1A"
"0000036946"	"SCN1A"
"0000036947"	"SCN1A"
"0000036948"	"SCN1A"
"0000036949"	"SCN1A"
"0000036950"	"SCN1A"
"0000036951"	"SCN1A"
"0000036952"	"SCN1A"
"0000036953"	"SCN1A"
"0000036954"	"SCN1A"
"0000036955"	"SCN1A"
"0000036956"	"SCN1A"
"0000036957"	"SCN1A"
"0000036958"	"SCN1A"
"0000036959"	"SCN1A"
"0000036960"	"SCN1A"
"0000036961"	"SCN1A"
"0000050652"	"SCN1A"
"0000080974"	"SCN1A"
"0000166125"	"SCN1A"
"0000166126"	"SCN1A"
"0000166127"	"SCN1A"
"0000166128"	"SCN1A"
"0000166129"	"SCN1A"
"0000166130"	"SCN1A"
"0000166131"	"SCN1A"
"0000166132"	"SCN1A"
"0000166133"	"SCN1A"
"0000166134"	"SCN1A"
"0000166135"	"SCN1A"
"0000166136"	"SCN1A"
"0000166137"	"SCN1A"
"0000166138"	"SCN1A"
"0000166139"	"SCN1A"
"0000166140"	"SCN1A"
"0000166141"	"SCN1A"
"0000166142"	"SCN1A"
"0000166143"	"SCN1A"
"0000166144"	"SCN1A"
"0000166145"	"SCN1A"
"0000166146"	"SCN1A"
"0000166147"	"SCN1A"
"0000166148"	"SCN1A"
"0000166149"	"SCN1A"
"0000166150"	"SCN1A"
"0000166151"	"SCN1A"
"0000166152"	"SCN1A"
"0000166153"	"SCN1A"
"0000166154"	"SCN1A"
"0000166155"	"SCN1A"
"0000166156"	"SCN1A"
"0000166157"	"SCN1A"
"0000166158"	"SCN1A"
"0000166159"	"SCN1A"
"0000166160"	"SCN1A"
"0000166161"	"SCN1A"
"0000166162"	"SCN1A"
"0000166163"	"SCN1A"
"0000166164"	"SCN1A"
"0000166165"	"SCN1A"
"0000181059"	"SCN1A"
"0000211786"	"SCN1A"
"0000211787"	"SCN1A"
"0000211788"	"SCN1A"
"0000211789"	"SCN1A"
"0000211790"	"SCN1A"
"0000211791"	"SCN1A"
"0000211792"	"SCN1A"
"0000241458"	"SCN1A"
"0000289388"	"SCN1A"
"0000304172"	"SCN1A"
"0000304174"	"SCN1A"
"0000304236"	"SCN1A"
"0000304237"	"SCN1A"
"0000304238"	"SCN1A"
"0000304239"	"SCN1A"
"0000304240"	"SCN1A"
"0000304241"	"SCN1A"
"0000304242"	"SCN1A"
"0000304243"	"SCN1A"
"0000304279"	"SCN1A"
"0000304280"	"SCN1A"
"0000304281"	"SCN1A"
"0000304282"	"SCN1A"
"0000304283"	"SCN1A"
"0000304284"	"SCN1A"
"0000307043"	"IRF2BPL"
"0000307123"	"SCN1A"
"0000307124"	"SCN1A"
"0000307125"	"SCN1A"
"0000307126"	"SCN1A"
"0000307127"	"SCN1A"
"0000307128"	"SCN1A"
"0000307129"	"SCN1A"
"0000307130"	"SCN1A"
"0000307131"	"SCN1A"
"0000307132"	"SCN1A"
"0000307133"	"SCN1A"
"0000307134"	"SCN1A"
"0000307135"	"SCN1A"
"0000307136"	"SCN1A"
"0000307137"	"SCN1A"
"0000307138"	"SCN1A"
"0000307139"	"SCN1A"
"0000309111"	"SCN1A"
"0000319152"	"SCN1A"
"0000319170"	"SCN1A"
"0000321184"	"SCN1A"
"0000326613"	"SCN1A"
"0000326614"	"SCN1A"
"0000327726"	"SCN1A"
"0000375654"	"SCN1A"
"0000375655"	"SCN1A"
"0000375656"	"SCN1A"
"0000375657"	"SCN1A"
"0000375658"	"SCN1A"
"0000375659"	"SCN1A"
"0000375660"	"SCN1A"
"0000375661"	"SCN1A"
"0000375662"	"SCN1A"
"0000375663"	"SCN1A"
"0000375664"	"SCN1A"
"0000375665"	"SCN1A"
"0000375666"	"SCN1A"
"0000375667"	"SCN1A"
"0000375668"	"SCN1A"
"0000375756"	"SCN1A"
"0000375807"	"MCCC2"
"0000375818"	"SCN1A"
"0000375819"	"SCN1A"
"0000375820"	"SCN1A"
"0000376025"	"SCN1A"
"0000376026"	"SCN1A"
"0000376027"	"SCN1A"
"0000376028"	"SCN1A"
"0000376029"	"SCN1A"
"0000396770"	"SCN1A"
"0000419172"	"SCN1A"
"0000436888"	"SCN1A"
"0000445266"	"SCN1A"
"0000449449"	"SCN1A"
"0000450262"	"MYH9"
"0000450262"	"SCN1A"
"0000450264"	"SCN1A"
"0000460168"	"SCN1A"
"0000467620"	"SCN1A"


## 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 = 780
"{{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}}"
"0000035988"	"0"	"75"	"2"	"166904280"	"166904280"	"subst"	"0"	"00681"	"SCN1A_000311"	"g.166904280T>C"	""	""	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.166047770T>C"	""	"likely pathogenic"	""
"0000035995"	"0"	"75"	"2"	"166929960"	"166929960"	"subst"	"0"	"00681"	"SCN1A_000312"	"g.166929960C>T"	""	"{PMID:Della Mina 2014:24848745}"	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.166073450C>T"	""	"likely pathogenic"	""
"0000063978"	"1"	"50"	"2"	"166854645"	"166854645"	"subst"	"0"	"01164"	"SCN1A_000036"	"g.166854645T>C"	""	""	""	""	"Polyphen-2: possibly damaging"	"Germline"	""	""	"0"	""	""	"g.165998135T>C"	""	"VUS"	""
"0000063979"	"1"	"90"	"2"	"166915083"	"166915083"	"subst"	"0"	"01164"	"SCN1A_000024"	"g.166915083T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058573T>C"	""	"pathogenic"	""
"0000063980"	"1"	"90"	"2"	"166915162"	"166915162"	"subst"	"0"	"01164"	"SCN1A_000099"	"g.166915162G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058652G>A"	""	"pathogenic"	""
"0000063981"	"1"	"10"	"2"	"166900503"	"166900503"	"subst"	"2.03302E-5"	"01164"	"SCN1A_000073"	"g.166900503G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166043993G>A"	""	"benign"	""
"0000063982"	"1"	"50"	"2"	"166892596"	"166892596"	"subst"	"4.06296E-6"	"01164"	"SCN1A_000052"	"g.166892596C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166036086C>G"	""	"VUS"	""
"0000063983"	"1"	"50"	"2"	"166850774"	"166850774"	"subst"	"0"	"01164"	"SCN1A_000085"	"g.166850774C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165994264C>A"	""	"VUS"	""
"0000063984"	"1"	"50"	"2"	"166896101"	"166896101"	"subst"	"0.00174599"	"01164"	"SCN1A_000065"	"g.166896101G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166039591G>A"	""	"VUS"	""
"0000063985"	"1"	"90"	"2"	"166929889"	"166929889"	"del"	"0"	"01164"	"SCN1A_000103"	"g.166929889del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166073379del"	""	"pathogenic"	""
"0000063986"	"1"	"10"	"2"	"166894343"	"166894343"	"subst"	"0.00301305"	"01164"	"SCN1A_000059"	"g.166894343A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166037833A>G"	""	"benign"	""
"0000063987"	"1"	"50"	"2"	"166856173"	"166856173"	"subst"	"0"	"01164"	"SCN1A_000037"	"g.166856173C>G"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165999663C>G"	""	"VUS"	""
"0000063988"	"1"	"50"	"2"	"166893165"	"166893165"	"subst"	"0"	"01164"	"SCN1A_000055"	"g.166893165C>A"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166036655C>A"	""	"VUS"	""
"0000063989"	"1"	"50"	"2"	"166854640"	"166854640"	"subst"	"0"	"01164"	"SCN1A_000034"	"g.166854640A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165998130A>G"	""	"VUS"	""
"0000063990"	"1"	"10"	"2"	"166900585"	"166900585"	"subst"	"0.000178429"	"01164"	"SCN1A_000087"	"g.166900585T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166044075T>A"	""	"benign"	""
"0000063991"	"1"	"90"	"2"	"166908499"	"166908499"	"subst"	"0"	"01164"	"SCN1A_000015"	"g.166908499C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051989C>A"	""	"pathogenic"	""
"0000063992"	"1"	"90"	"2"	"166912936"	"166912936"	"subst"	"0"	"01164"	"SCN1A_000021"	"g.166912936C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166056426C>T"	""	"pathogenic"	""
"0000063993"	"1"	"50"	"2"	"166870386"	"166870386"	"subst"	"7.33096E-5"	"01164"	"SCN1A_000048"	"g.166870386A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166013876A>G"	""	"VUS"	""
"0000063994"	"1"	"90"	"2"	"166859264"	"166859264"	"subst"	"0"	"01164"	"SCN1A_000041"	"g.166859264C>T"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166002754C>T"	""	"pathogenic"	""
"0000063995"	"1"	"50"	"2"	"166859344"	"166859344"	"subst"	"0"	"01164"	"SCN1A_000043"	"g.166859344T>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166002834T>C"	""	"VUS"	""
"0000063996"	"1"	"50"	"2"	"166895970"	"166895970"	"subst"	"1.62596E-5"	"01164"	"SCN1A_000064"	"g.166895970T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166039460T>C"	""	"VUS"	""
"0000063997"	"1"	"50"	"2"	"166859332"	"166859332"	"subst"	"0"	"01164"	"SCN1A_000042"	"g.166859332A>G"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166002822A>G"	""	"VUS"	""
"0000063998"	"1"	"50"	"2"	"166892867"	"166892867"	"subst"	"2.90353E-5"	"01164"	"SCN1A_000054"	"g.166892867C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166036357C>A"	""	"VUS"	""
"0000063999"	"1"	"90"	"2"	"166848051"	"166848051"	"subst"	"4.07209E-6"	"01164"	"SCN1A_000106"	"g.166848051G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165991541G>A"	""	"pathogenic"	""
"0000064000"	"1"	"90"	"2"	"166859162"	"166859165"	"del"	"0"	"01164"	"SCN1A_000038"	"g.166859162_166859165del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166002652_166002655del"	""	"pathogenic"	""
"0000064001"	"1"	"90"	"2"	"166854644"	"166854644"	"subst"	"0"	"01164"	"SCN1A_000035"	"g.166854644A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165998134A>T"	""	"pathogenic"	""
"0000064002"	"1"	"10"	"2"	"166870199"	"166870199"	"subst"	"0"	"01164"	"SCN1A_000047"	"g.166870199G>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	"rs76220226"	"0"	""	""	"g.166013689G>C"	""	"benign"	""
"0000064003"	"1"	"90"	"2"	"166904156"	"166904156"	"subst"	"0"	"01164"	"SCN1A_000096"	"g.166904156C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047646C>T"	""	"pathogenic"	""
"0000064004"	"1"	"90"	"2"	"166850696"	"166850696"	"subst"	"0"	"01164"	"SCN1A_000082"	"g.166850696C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165994186C>T"	""	"pathogenic"	""
"0000064005"	"1"	"10"	"2"	"166904176"	"166904176"	"subst"	"0.00166819"	"01164"	"SCN1A_000313"	"g.166904176T>G"	""	""	""	""	""	"Germline"	""	"rs114137271"	"0"	""	""	"g.166047666T>G"	""	"benign"	""
"0000064006"	"1"	"90"	"2"	"166854546"	"166854548"	"del"	"0"	"01164"	"SCN1A_000033"	"g.166854546_166854548del"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165998036_165998038del"	""	"pathogenic"	""
"0000064007"	"1"	"90"	"2"	"166848788"	"166848788"	"subst"	"0"	"01164"	"SCN1A_000078"	"g.166848788G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992278G>A"	""	"pathogenic"	""
"0000064008"	"1"	"50"	"2"	"166908284"	"166908284"	"subst"	"0"	"01164"	"SCN1A_000011"	"g.166908284T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051774T>C"	""	"VUS"	""
"0000064009"	"1"	"90"	"2"	"166852531"	"166852531"	"subst"	"0"	"01164"	"SCN1A_000029"	"g.166852531G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165996021G>A"	""	"pathogenic"	""
"0000064010"	"1"	"50"	"2"	"166929999"	"166930000"	"ins"	"0"	"01164"	"SCN1A_000104"	"g.166929999_166930000insAATC"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166073489_166073490insAATC"	""	"VUS"	""
"0000064011"	"1"	"50"	"2"	"166859181"	"166859181"	"subst"	"0"	"01164"	"SCN1A_000040"	"g.166859181C>G"	""	""	""	""	"PolyPhen-2: probably damaging (PSIC:0.999)"	"Germline"	""	""	"0"	""	""	"g.166002671C>G"	""	"VUS"	""
"0000064012"	"1"	"90"	"2"	"166868765"	"166868765"	"subst"	"0"	"01164"	"SCN1A_000046"	"g.166868765G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166012255G>A"	""	"pathogenic"	""
"0000064013"	"1"	"90"	"2"	"166848453"	"166848453"	"subst"	"0"	"01164"	"SCN1A_000101"	"g.166848453C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165991943C>T"	""	"pathogenic"	""
"0000064014"	"1"	"90"	"2"	"166894365"	"166894365"	"subst"	"0"	"01164"	"SCN1A_000060"	"g.166894365A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166037855A>T"	""	"pathogenic"	""
"0000064015"	"1"	"10"	"2"	"166850777"	"166850777"	"subst"	"0.00132452"	"01164"	"SCN1A_000086"	"g.166850777A>G"	""	""	""	""	"SCN1A Variant database"	"Germline"	""	""	"0"	""	""	"g.165994267A>G"	""	"benign"	""
"0000064016"	"1"	"50"	"2"	"166896141"	"166896141"	"subst"	"4.12541E-6"	"01164"	"SCN1A_000066"	"g.166896141G>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166039631G>C"	""	"VUS"	""
"0000064017"	"1"	"50"	"2"	"166898835"	"166898835"	"subst"	"0"	"01164"	"SCN1A_000072"	"g.166898835C>T"	""	""	""	""	"Polyphen-2: prob. damaging (PSIC:1,0)\r\nVariant 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.166042325C>T"	""	"VUS"	""
"0000064018"	"1"	"50"	"2"	"166850722"	"166850722"	"subst"	"0"	"01164"	"SCN1A_000083"	"g.166850722G>A"	""	""	""	""	"SCN1A Variant database"	"Germline"	""	""	"0"	""	""	"g.165994212G>A"	""	"VUS"	""
"0000064019"	"1"	"90"	"2"	"166859175"	"166859175"	"subst"	"0"	"01164"	"SCN1A_000039"	"g.166859175A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166002665A>C"	""	"pathogenic"	""
"0000064020"	"1"	"90"	"2"	"166904177"	"166904177"	"subst"	"4.06918E-6"	"01164"	"SCN1A_000314"	"g.166904177C>T"	""	""	""	""	""	"Germline"	""	"rs121917957"	"0"	""	""	"g.166047667C>T"	""	"pathogenic"	""
"0000064021"	"1"	"90"	"2"	"166866242"	"166866242"	"subst"	"0"	"01164"	"SCN1A_000044"	"g.166866242A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166009732A>C"	""	"pathogenic"	""
"0000064022"	"1"	"50"	"2"	"166872166"	"166872166"	"subst"	"4.0664E-6"	"01164"	"SCN1A_000051"	"g.166872166G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166015656G>A"	""	"VUS"	""
"0000064023"	"1"	"50"	"2"	"166904024"	"166904024"	"subst"	"0"	"01164"	"SCN1A_000095"	"g.166904024C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047514C>T"	""	"VUS"	""
"0000064024"	"1"	"50"	"2"	"166912996"	"166912996"	"subst"	"0"	"01164"	"SCN1A_000022"	"g.166912996A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166056486A>T"	""	"VUS"	""
"0000064025"	"1"	"50"	"2"	"166850953"	"166850953"	"subst"	"0.0015968"	"01164"	"SCN1A_000027"	"g.166850953C>T"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165994443C>T"	""	"VUS"	""
"0000064026"	"1"	"50"	"2"	"166848827"	"166848827"	"subst"	"0"	"01164"	"SCN1A_000079"	"g.166848827G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992317G>T"	""	"VUS"	""
"0000064027"	"1"	"90"	"2"	"166892626"	"166892626"	"subst"	"0"	"01164"	"SCN1A_000053"	"g.166892626C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166036116C>A"	""	"pathogenic"	""
"0000064028"	"1"	"50"	"2"	"166848615"	"166848615"	"subst"	"0"	"01164"	"SCN1A_000075"	"g.166848615C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992105C>T"	""	"VUS"	""
"0000064029"	"1"	"90"	"2"	"166894292"	"166894292"	"subst"	"0"	"01164"	"SCN1A_000058"	"g.166894292G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166037782G>C"	""	"pathogenic"	""
"0000064030"	"1"	"10"	"2"	"166911142"	"166911143"	"dup"	"0"	"01164"	"SCN1A_000019"	"g.166911142_166911143dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166054632_166054633dup"	""	"benign"	""
"0000064031"	"1"	"10"	"2"	"166904176"	"166904176"	"subst"	"0.00166819"	"01164"	"SCN1A_000313"	"g.166904176T>G"	""	""	""	""	"SCN1A Variant Database"	"Germline"	""	"rs114137271"	"0"	""	""	"g.166047666T>G"	""	"benign"	""
"0000064032"	"1"	"50"	"2"	"166850744"	"166850744"	"subst"	"0"	"01164"	"SCN1A_000084"	"g.166850744A>T"	""	""	""	""	"Cys1588Arg is described"	"Germline"	""	""	"0"	""	""	"g.165994234A>T"	""	"VUS"	""
"0000064033"	"1"	"10"	"2"	"166848003"	"166848003"	"subst"	"0.0013324"	"01164"	"SCN1A_000105"	"g.166848003G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165991493G>C"	""	"benign"	""
"0000064034"	"1"	"50"	"2"	"166848350"	"166848350"	"subst"	"0"	"01164"	"SCN1A_000108"	"g.166848350C>A"	""	""	""	""	"probably pathogenic; Trp1812Ser"	"Germline"	""	""	"0"	""	""	"g.165991840C>A"	""	"VUS"	""
"0000064035"	"1"	"90"	"2"	"166904231"	"166904231"	"subst"	"0"	"01164"	"SCN1A_000315"	"g.166904231T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047721T>C"	""	"pathogenic"	""
"0000064036"	"1"	"90"	"2"	"166895946"	"166895946"	"subst"	"0"	"01164"	"SCN1A_000063"	"g.166895946C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166039436C>T"	""	"pathogenic"	""
"0000064037"	"1"	"50"	"2"	"166894440"	"166894440"	"subst"	"0"	"01164"	"SCN1A_000062"	"g.166894440C>A"	""	""	""	""	"SCN1A- database; Polyphen-2: PSIC: 1,0 (probably damaging)"	"Germline"	""	""	"0"	""	""	"g.166037930C>A"	""	"VUS"	""
"0000064038"	"1"	"90"	"2"	"166909392"	"166909392"	"subst"	"0"	"01164"	"SCN1A_000018"	"g.166909392G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166052882G>A"	""	"pathogenic"	""
"0000064039"	"1"	"50"	"2"	"166870199"	"166870199"	"subst"	"0"	"01164"	"SCN1A_000047"	"g.166870199G>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166013689G>C"	""	"VUS"	""
"0000064040"	"1"	"90"	"2"	"166897942"	"166897942"	"subst"	"0"	"01164"	"SCN1A_000069"	"g.166897942C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166041432C>T"	""	"pathogenic"	""
"0000064041"	"1"	"50"	"2"	"166852609"	"166852609"	"del"	"0"	"01164"	"SCN1A_000031"	"g.166852609del"	""	""	""	""	"c.4497delT"	"Germline"	""	""	"0"	""	""	"g.165996099del"	""	"VUS"	""
"0000064042"	"1"	"90"	"2"	"166901607"	"166901608"	"del"	"0"	"01164"	"SCN1A_000089"	"g.166901607_166901608del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166045097_166045098del"	""	"pathogenic"	""
"0000064043"	"1"	"10"	"2"	"166898017"	"166898017"	"subst"	"0.279022"	"01164"	"SCN1A_000070"	"g.166898017G>T"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	"rs10198801"	"0"	""	""	"g.166041507G>T"	""	"benign"	""
"0000064044"	"1"	"50"	"2"	"166848367"	"166848367"	"subst"	"0.0136103"	"01164"	"SCN1A_000100"	"g.166848367C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165991857C>T"	""	"VUS"	""
"0000064045"	"1"	"50"	"2"	"166897794"	"166897794"	"subst"	"0"	"01164"	"SCN1A_000068"	"g.166897794C>T"	""	""	""	""	"Polyphen-2: possibly damaging (PSIC:0,827)"	"Germline"	""	""	"0"	""	""	"g.166041284C>T"	""	"VUS"	""
"0000064046"	"1"	"50"	"2"	"166848464"	"166848464"	"subst"	"0"	"01164"	"SCN1A_000102"	"g.166848464A>G"	""	""	""	""	"laut Polyphen-2: probably damaging"	"Germline"	""	""	"0"	""	""	"g.165991954A>G"	""	"VUS"	""
"0000064047"	"1"	"50"	"2"	"166848723"	"166848723"	"subst"	"0"	"01164"	"SCN1A_000077"	"g.166848723C>T"	""	""	""	""	"PolyPhen-2: prob. dam.; c.5062G>T"	"Germline"	""	""	"0"	""	""	"g.165992213C>T"	""	"VUS"	""
"0000064048"	"1"	"50"	"2"	"166852547"	"166852547"	"subst"	"6.926E-5"	"01164"	"SCN1A_000030"	"g.166852547C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165996037C>T"	""	"VUS"	""
"0000064049"	"1"	"50"	"2"	"166848173"	"166848173"	"subst"	"0"	"01164"	"SCN1A_000107"	"g.166848173A>G"	""	""	""	""	"lt. PolyPhen-2. probably damaging (PSIC 0.986)"	"Germline"	""	""	"0"	""	""	"g.165991663A>G"	""	"VUS"	""
"0000064050"	"1"	"90"	"2"	"166908433"	"166908436"	"del"	"0"	"01164"	"SCN1A_000014"	"g.166908433_166908436del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051923_166051926del"	""	"pathogenic"	""
"0000064051"	"1"	"50"	"2"	"166897658"	"166897658"	"subst"	"0"	"01164"	"SCN1A_000067"	"g.166897658G>A"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166041148G>A"	""	"VUS"	""
"0000064052"	"1"	"10"	"2"	"166901900"	"166901900"	"del"	"0"	"01164"	"SCN1A_000091"	"g.166901900del"	""	""	""	""	"c.1378-61delC"	"Germline"	""	"rs67636132"	"0"	""	""	"g.166045390del"	""	"benign"	""
"0000064053"	"1"	"50"	"2"	"166848710"	"166848710"	"subst"	"0"	"01164"	"SCN1A_000076"	"g.166848710A>C"	""	""	""	""	"c.5075T>C described as pathogenic"	"Germline"	""	""	"0"	""	""	"g.165992200A>C"	""	"VUS"	""
"0000064054"	"1"	"50"	"2"	"166901775"	"166901775"	"subst"	"6.50862E-5"	"01164"	"SCN1A_000090"	"g.166901775T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166045265T>G"	""	"VUS"	""
"0000064055"	"1"	"90"	"2"	"166894395"	"166894395"	"subst"	"0"	"01164"	"SCN1A_000061"	"g.166894395C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166037885C>T"	""	"pathogenic"	""
"0000064056"	"1"	"10"	"2"	"166854534"	"166854534"	"subst"	"4.10108E-6"	"01164"	"SCN1A_000032"	"g.166854534T>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165998024T>C"	""	"benign"	""
"0000064057"	"1"	"90"	"2"	"166900520"	"166900520"	"subst"	"0"	"01164"	"SCN1A_000074"	"g.166900520G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166044010G>A"	""	"pathogenic"	""
"0000064058"	"1"	"50"	"2"	"166852452"	"166852452"	"subst"	"0"	"01164"	"SCN1A_000028"	"g.166852452T>A"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165995942T>A"	""	"VUS"	""
"0000064059"	"1"	"50"	"2"	"166894174"	"166894174"	"dup"	"0"	"01164"	"SCN1A_000056"	"g.166894174dup"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166037664dup"	""	"VUS"	""
"0000064060"	"1"	"10"	"2"	"166850953"	"166850953"	"subst"	"0.0015968"	"01164"	"SCN1A_000027"	"g.166850953C>T"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.165994443C>T"	""	"benign"	""
"0000064061"	"1"	"50"	"2"	"166903413"	"166903413"	"subst"	"0"	"01164"	"SCN1A_000092"	"g.166903413A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166046903A>T"	""	"VUS"	""
"0000064062"	"1"	"90"	"2"	"166848843"	"166848843"	"subst"	"0"	"01164"	"SCN1A_000081"	"g.166848843G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992333G>A"	""	"pathogenic"	""
"0000064063"	"1"	"50"	"2"	"166908044"	"166908044"	"subst"	"0"	"01164"	"SCN1A_000008"	"g.166908044A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051534A>T"	""	"VUS"	""
"0000064064"	"1"	"50"	"2"	"166908307"	"166908307"	"subst"	"8.1612E-6"	"01164"	"SCN1A_000012"	"g.166908307T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051797T>C"	""	"VUS"	""
"0000064065"	"1"	"90"	"2"	"166911147"	"166911147"	"subst"	"0"	"01164"	"SCN1A_000020"	"g.166911147C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166054637C>T"	""	"pathogenic"	""
"0000064066"	"1"	"50"	"2"	"166908227"	"166908230"	"del"	"0"	"01164"	"SCN1A_000010"	"g.166908227_166908230del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051717_166051720del"	""	"VUS"	""
"0000064067"	"1"	"50"	"2"	"166908519"	"166908519"	"subst"	"0"	"01164"	"SCN1A_000016"	"g.166908519A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166052009A>C"	""	"VUS"	""
"0000064068"	"1"	"50"	"2"	"166908567"	"166908567"	"del"	"0"	"01164"	"SCN1A_000017"	"g.166908567del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166052057del"	""	"VUS"	""
"0000064069"	"1"	"10"	"2"	"166908188"	"166908188"	"subst"	"0.00472885"	"01164"	"SCN1A_000009"	"g.166908188A>T"	"frequency 8-10%"	""	""	""	""	"Germline"	""	"rs74655577"	"0"	""	""	"g.166051678A>T"	""	"benign"	""
"0000064070"	"1"	"50"	"2"	"166904289"	"166904289"	"subst"	"4.88059E-5"	"01164"	"SCN1A_000307"	"g.166904289G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047779G>C"	""	"VUS"	""
"0000064071"	"1"	"50"	"2"	"166901480"	"166901480"	"subst"	"0"	"01164"	"SCN1A_000088"	"g.166901480A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166044970A>C"	""	"VUS"	""
"0000064072"	"1"	"90"	"2"	"166915161"	"166915161"	"subst"	"0"	"01164"	"SCN1A_000098"	"g.166915161C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058651C>T"	""	"pathogenic"	""
"0000064073"	"1"	"50"	"2"	"166848840"	"166848840"	"subst"	"0.00143414"	"01164"	"SCN1A_000080"	"g.166848840G>A"	""	""	""	""	"Nicita F , J Child Neurol. 2010 Nov,25(11):1369-76. Epub 2010 Aug 20"	"Germline"	""	""	"0"	""	""	"g.165992330G>A"	""	"VUS"	""
"0000064074"	"1"	"90"	"2"	"166850926"	"166852524"	"del"	"0"	"01164"	"SCN1A_000050"	"g.166850926_166852524del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.165994416_165996014del"	""	"pathogenic"	""
"0000064075"	"1"	"50"	"2"	"166894209"	"166894209"	"subst"	"0"	"01164"	"SCN1A_000057"	"g.166894209T>C"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	""	"0"	""	""	"g.166037699T>C"	""	"VUS"	""
"0000064076"	"1"	"50"	"2"	"166904157"	"166904157"	"subst"	"0"	"01164"	"SCN1A_000097"	"g.166904157A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047647A>C"	""	"VUS"	""
"0000064077"	"1"	"50"	"2"	"166914963"	"166914963"	"subst"	"0"	"01164"	"SCN1A_000023"	"g.166914963A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058453A>G"	""	"VUS"	""
"0000064078"	"1"	"50"	"2"	"166915084"	"166915084"	"subst"	"7.33012E-5"	"01164"	"SCN1A_000025"	"g.166915084G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058574G>C"	""	"VUS"	""
"0000064079"	"1"	"50"	"2"	"166903485"	"166903485"	"subst"	"0"	"01164"	"SCN1A_000094"	"g.166903485G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166046975G>C"	""	"VUS"	""
"0000064080"	"1"	"50"	"2"	"166903479"	"166903479"	"subst"	"0"	"01164"	"SCN1A_000093"	"g.166903479C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166046969C>A"	""	"VUS"	""
"0000064081"	"1"	"50"	"2"	"166868734"	"166868734"	"subst"	"8.17936E-6"	"01164"	"SCN1A_000045"	"g.166868734G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166012224G>A"	""	"VUS"	""
"0000064082"	"1"	"10"	"2"	"166898758"	"166898758"	"subst"	"0.00282368"	"01164"	"SCN1A_000071"	"g.166898758G>A"	""	""	""	""	"Transcript v004 =  NM_001165963.1"	"Germline"	""	"rs75022359"	"0"	""	""	"g.166042248G>A"	""	"benign"	""
"0000064083"	"1"	"50"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"01164"	"SCN1A_000049"	"g.166872146G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166015636G>C"	""	"VUS"	""
"0000064084"	"1"	"90"	"2"	"166908416"	"166908416"	"subst"	"0"	"01164"	"SCN1A_000013"	"g.166908416G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051906G>C"	""	"pathogenic"	""
"0000064085"	"1"	"50"	"2"	"166904273"	"166904273"	"subst"	"0"	"01164"	"SCN1A_000316"	"g.166904273C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047763C>T"	""	"VUS"	""
"0000064086"	"1"	"10"	"2"	"166915118"	"166915118"	"subst"	"0.007121"	"01164"	"SCN1A_000026"	"g.166915118A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058608A>G"	""	"benign"	""
"0000079398"	"0"	"90"	"2"	"165578421"	"167108554"	"del"	"0"	"00006"	"COBLL1_000002"	"g.165578421_167108554del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079632"	"0"	"90"	"2"	"166848020"	"166848020"	"subst"	"0"	"00006"	"SCN1A_000109"	"g.166848020A>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.165991510A>C"	""	"pathogenic"	""
"0000130060"	"0"	"70"	"2"	"166903396"	"166903396"	"subst"	"0"	"01758"	"SCN1A_000110"	"g.166903396C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166046886C>T"	""	"likely pathogenic"	"ACMG"
"0000188130"	"0"	"50"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"02192"	"SCN1A_000113"	"g.166901590C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121918817"	"0"	""	""	"g.166045080C>T"	""	"VUS"	""
"0000188255"	"0"	"50"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"02192"	"SCN1A_000111"	"g.166866307T>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121917910"	"0"	""	""	"g.166009797T>A"	""	"VUS"	""
"0000188336"	"0"	"50"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"02192"	"SCN1A_000049"	"g.166872146G>C"	"2/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121918799"	"0"	""	""	"g.166015636G>C"	""	"VUS"	""
"0000188366"	"0"	"50"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"02192"	"SCN1A_000049"	"g.166872146G>C"	"2/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121918799"	"0"	""	""	"g.166015636G>C"	""	"VUS"	""
"0000188463"	"0"	"50"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"02192"	"SCN1A_000113"	"g.166901590C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121918817"	"0"	""	""	"g.166045080C>T"	""	"VUS"	""
"0000188483"	"0"	"50"	"2"	"166872186"	"166872186"	"subst"	"0.000386446"	"02192"	"SCN1A_000112"	"g.166872186C>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs201079458"	"0"	""	""	"g.166015676C>T"	""	"VUS"	""
"0000188544"	"0"	"50"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"02192"	"SCN1A_000113"	"g.166901590C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs121918817"	"0"	""	""	"g.166045080C>T"	""	"VUS"	""
"0000248498"	"0"	"10"	"2"	"166897864"	"166897864"	"subst"	"0.725242"	"02325"	"SCN1A_000203"	"g.166897864A>G"	""	""	""	"SCN1A(NM_001202435.3):c.2292T>C (p.V764=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041354A>G"	""	"benign"	""
"0000248785"	"0"	"10"	"2"	"166847921"	"166847921"	"subst"	"0.00188612"	"02325"	"SCN1A_000119"	"g.166847921A>G"	""	""	""	"SCN1A(NM_001165963.1):c.5864T>C (p.(Ile1955Thr)), SCN1A(NM_001202435.3):c.5864T>C (p.I1955T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991411A>G"	""	"benign"	""
"0000249434"	"0"	"30"	"2"	"166892886"	"166892886"	"subst"	"0.000209361"	"02325"	"SCN1A_000188"	"g.166892886A>G"	""	""	""	"SCN1A(NM_001202435.3):c.3101T>C (p.I1034T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036376A>G"	""	"likely benign"	""
"0000249504"	"0"	"30"	"2"	"166901840"	"166901840"	"subst"	"0.000301674"	"02325"	"SCN1A_000232"	"g.166901840A>G"	""	""	""	"SCN1A(NM_001165963.3):c.1378-3T>C, SCN1A(NM_001202435.3):c.1378-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045330A>G"	""	"likely benign"	""
"0000250756"	"0"	"10"	"2"	"166898947"	"166898947"	"del"	"0"	"02326"	"SCN1A_000215"	"g.166898947del"	""	""	""	"SCN1A(NM_001165963.3):c.2044-5delT, SCN1A(NM_001202435.2):c.2044-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042437del"	""	"benign"	""
"0000251001"	"0"	"10"	"2"	"166868775"	"166868775"	"subst"	"0.00884715"	"02326"	"SCN1A_000168"	"g.166868775A>G"	""	""	""	"SCN1A(NM_001165963.1):c.3723T>C (p.(Tyr1241=)), SCN1A(NM_001165963.3):c.3723T>C (p.Y1241=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166012265A>G"	""	"benign"	""
"0000251002"	"0"	"10"	"2"	"166915118"	"166915118"	"subst"	"0.007121"	"02326"	"SCN1A_000026"	"g.166915118A>G"	""	""	""	"SCN1A(NM_001165963.1):c.345T>C (p.(Asn115=)), SCN1A(NM_001165963.3):c.345T>C (p.N115=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058608A>G"	""	"benign"	""
"0000251254"	"0"	"10"	"2"	"166856329"	"166856329"	"subst"	"0"	"02326"	"SCN1A_000157"	"g.166856329A>T"	""	""	""	"SCN1A(NM_001165963.3):c.4285-43T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999819A>T"	""	"benign"	""
"0000251255"	"0"	"10"	"2"	"166870221"	"166870221"	"subst"	"0.00942544"	"02326"	"SCN1A_000170"	"g.166870221A>C"	""	""	""	"SCN1A(NM_001165963.3):c.3705+33T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166013711A>C"	""	"benign"	""
"0000251256"	"0"	"10"	"2"	"166892448"	"166892448"	"subst"	"0"	"02326"	"SCN1A_000182"	"g.166892448A>T"	""	""	""	"SCN1A(NM_001165963.3):c.3429+110T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035938A>T"	""	"benign"	""
"0000251257"	"0"	"10"	"2"	"166892449"	"166892449"	"subst"	"0"	"02326"	"SCN1A_000183"	"g.166892449A>T"	""	""	""	"SCN1A(NM_001165963.3):c.3429+109T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035939A>T"	""	"benign"	""
"0000251258"	"0"	"10"	"2"	"166893045"	"166893045"	"subst"	"0"	"02326"	"SCN1A_000190"	"g.166893045A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2947-5T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036535A>T"	""	"benign"	""
"0000251259"	"0"	"10"	"2"	"166898003"	"166898003"	"del"	"0"	"02326"	"SCN1A_000210"	"g.166898003del"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11delT (p.(=)), SCN1A(NM_001165963.3):c.2177-11delT, SCN1A(NM_001202435.3):c.2177-11delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041493del"	""	"benign"	""
"0000251260"	"0"	"10"	"2"	"166898939"	"166898939"	"subst"	"0"	"02326"	"SCN1A_000216"	"g.166898939A>G"	""	""	""	"SCN1A(NM_001165963.3):c.2044-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042429A>G"	""	"benign"	""
"0000251261"	"0"	"10"	"2"	"166898940"	"166898940"	"subst"	"0"	"02326"	"SCN1A_000217"	"g.166898940A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2044-6T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042430A>T"	""	"benign"	""
"0000251262"	"0"	"10"	"2"	"166909129"	"166909129"	"subst"	"0"	"02326"	"SCN1A_000253"	"g.166909129A>T"	""	""	""	"SCN1A(NM_001165963.3):c.694+233T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052619A>T"	""	"benign"	""
"0000251263"	"0"	"10"	"2"	"166909135"	"166909135"	"subst"	"0"	"02326"	"SCN1A_000254"	"g.166909135A>C"	""	""	""	"SCN1A(NM_001165963.3):c.694+227T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052625A>C"	""	"benign"	""
"0000251768"	"0"	"30"	"2"	"166848862"	"166848862"	"subst"	"0.000182827"	"02326"	"SCN1A_000133"	"g.166848862A>G"	""	""	""	"SCN1A(NM_001165963.3):c.4923T>C (p.A1641=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992352A>G"	""	"likely benign"	""
"0000251769"	"0"	"30"	"2"	"166850765"	"166850765"	"subst"	"2.44535E-5"	"02326"	"SCN1A_000137"	"g.166850765A>G"	""	""	""	"SCN1A(NM_001165963.3):c.4743T>C (p.I1581=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994255A>G"	""	"likely benign"	""
"0000251770"	"0"	"30"	"2"	"166850777"	"166850777"	"subst"	"0.00132452"	"02326"	"SCN1A_000086"	"g.166850777A>G"	""	""	""	"SCN1A(NM_001165963.1):c.4731T>C (p.(Asn1577=)), SCN1A(NM_001165963.2):c.4731T>C (p.N1577=), SCN1A(NM_001165963.3):c.4731T>C (p.N1577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994267A>G"	""	"likely benign"	""
"0000251771"	"0"	"30"	"2"	"166868772"	"166868772"	"subst"	"1.64486E-5"	"02326"	"SCN1A_000308"	"g.166868772A>G"	""	""	""	"SCN1A(NM_001165963.3):c.3726T>C (p.I1242=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166012262A>G"	""	"likely benign"	""
"0000251772"	"0"	"30"	"2"	"166894343"	"166894343"	"subst"	"0.00301305"	"02326"	"SCN1A_000059"	"g.166894343A>G"	""	""	""	"SCN1A(NM_001165963.1):c.2889T>C (p.(Ala963=)), SCN1A(NM_001165963.3):c.2889T>C (p.A963=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037833A>G"	""	"likely benign"	""
"0000251934"	"0"	"50"	"2"	"166912926"	"166912926"	"subst"	"0"	"02326"	"SCN1A_000270"	"g.166912926A>C"	""	""	""	"SCN1A(NM_001165963.3):c.468T>G (p.N156K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166056416A>C"	""	"VUS"	""
"0000252044"	"0"	"30"	"2"	"166852350"	"166852350"	"del"	"0"	"02326"	"SCN1A_000140"	"g.166852350del"	""	""	""	"SCN1A(NM_001165963.3):c.4581+174delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165995840del"	""	"likely benign"	""
"0000252045"	"0"	"30"	"2"	"166859332"	"166859332"	"subst"	"0"	"02326"	"SCN1A_000042"	"g.166859332A>G"	""	""	""	"SCN1A(NM_001165963.3):c.4003-69T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166002822A>G"	""	"likely benign"	""
"0000252046"	"0"	"30"	"2"	"166866492"	"166866492"	"subst"	"0"	"02326"	"SCN1A_000166"	"g.166866492A>T"	""	""	""	"SCN1A(NM_001165963.3):c.3880-141T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009982A>T"	""	"likely benign"	""
"0000252047"	"0"	"30"	"2"	"166892450"	"166892450"	"subst"	"0"	"02326"	"SCN1A_000184"	"g.166892450A>T"	""	""	""	"SCN1A(NM_001165963.3):c.3429+108T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035940A>T"	""	"likely benign"	""
"0000252048"	"0"	"30"	"2"	"166897991"	"166897991"	"subst"	"0"	"02326"	"SCN1A_000211"	"g.166897991A>G"	""	""	""	"SCN1A(NM_001165963.3):c.2177-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041481A>G"	""	"likely benign"	""
"0000252049"	"0"	"30"	"2"	"166898961"	"166898961"	"subst"	"0"	"02326"	"SCN1A_000218"	"g.166898961A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2044-27T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042451A>T"	""	"likely benign"	""
"0000252050"	"0"	"30"	"2"	"166900137"	"166900137"	"subst"	"0"	"02326"	"SCN1A_000220"	"g.166900137A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2043+42T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043627A>T"	""	"likely benign"	""
"0000252051"	"0"	"30"	"2"	"166908504"	"166908504"	"del"	"0"	"02326"	"SCN1A_000251"	"g.166908504del"	""	""	""	"SCN1A(NM_001165963.3):c.695-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166051994del"	""	"likely benign"	""
"0000252052"	"0"	"30"	"2"	"166911389"	"166911389"	"subst"	"0"	"02326"	"SCN1A_000269"	"g.166911389A>G"	""	""	""	"SCN1A(NM_001165963.3):c.474-113T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054879A>G"	""	"likely benign"	""
"0000252368"	"0"	"70"	"2"	"166911215"	"166911215"	"subst"	"0"	"02326"	"SCN1A_000266"	"g.166911215A>T"	""	""	""	"SCN1A(NM_001165963.3):c.535T>A (p.C179S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054705A>T"	""	"likely pathogenic"	""
"0000252378"	"0"	"70"	"2"	"166868710"	"166868710"	"subst"	"0"	"02326"	"SCN1A_000167"	"g.166868710A>C"	""	""	""	"SCN1A(NM_001165963.3):c.3788T>G (p.F1263C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166012200A>C"	""	"likely pathogenic"	""
"0000252389"	"0"	"70"	"2"	"166915098"	"166915098"	"subst"	"0"	"02326"	"SCN1A_000272"	"g.166915098A>G"	""	""	""	"SCN1A(NM_001165963.3):c.365T>C (p.I122T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058588A>G"	""	"likely pathogenic"	""
"0000252395"	"0"	"70"	"2"	"166866305"	"166866305"	"subst"	"0"	"02326"	"SCN1A_000307"	"g.166866305A>C"	""	""	""	"SCN1A(NM_001165963.3):c.3926T>G (p.L1309R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009795A>C"	""	"likely pathogenic"	""
"0000252403"	"0"	"70"	"2"	"166903356"	"166903356"	"subst"	"0"	"02326"	"SCN1A_000234"	"g.166903356A>T"	""	""	""	"SCN1A(NM_001165963.3):c.1301T>A (p.L434*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046846A>T"	""	"likely pathogenic"	""
"0000252413"	"0"	"70"	"2"	"166848674"	"166848674"	"subst"	"0"	"02326"	"SCN1A_000128"	"g.166848674A>T"	""	""	""	"SCN1A(NM_001165963.3):c.5111T>A (p.M1704K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992164A>T"	""	"likely pathogenic"	""
"0000252493"	"0"	"90"	"2"	"166848363"	"166848363"	"subst"	"0"	"02326"	"SCN1A_000123"	"g.166848363A>G"	""	""	""	"SCN1A(NM_001165963.3):c.5422T>C (p.F1808L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991853A>G"	""	"pathogenic"	""
"0000252535"	"0"	"90"	"2"	"166848635"	"166848635"	"subst"	"0"	"02326"	"SCN1A_000127"	"g.166848635A>G"	""	""	""	"SCN1A(NM_001165963.3):c.5150T>C (p.L1717P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992125A>G"	""	"pathogenic"	""
"0000252536"	"0"	"90"	"2"	"166848584"	"166848584"	"subst"	"0"	"02326"	"SCN1A_000126"	"g.166848584A>G"	""	""	""	"SCN1A(NM_001165963.3):c.5201T>C (p.L1734P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992074A>G"	""	"pathogenic"	""
"0000252585"	"0"	"90"	"2"	"166909448"	"166909448"	"subst"	"0"	"02326"	"SCN1A_000259"	"g.166909448A>T"	""	""	""	"SCN1A(NM_001165963.3):c.608T>A (p.V203D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052938A>T"	""	"pathogenic"	""
"0000252590"	"0"	"90"	"2"	"166904157"	"166904157"	"subst"	"0"	"02326"	"SCN1A_000244"	"g.166904157A>G"	""	""	""	"SCN1A(NM_001165963.3):c.1150T>C (p.W384R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047647A>G"	""	"pathogenic"	""
"0000252592"	"0"	"90"	"2"	"166859000"	"166859000"	"subst"	"0"	"02326"	"SCN1A_000160"	"g.166859000A>T"	""	""	""	"SCN1A(NM_001165963.3):c.4266T>A (p.Y1422*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166002490A>T"	""	"pathogenic"	""
"0000253975"	"0"	"30"	"2"	"166898947"	"166898947"	"del"	"0"	"01943"	"SCN1A_000215"	"g.166898947del"	""	""	""	"SCN1A(NM_001165963.3):c.2044-5delT, SCN1A(NM_001202435.2):c.2044-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042437del"	""	"likely benign"	""
"0000255152"	"0"	"30"	"2"	"166911255"	"166911255"	"subst"	"0"	"01943"	"SCN1A_000267"	"g.166911255A>G"	""	""	""	"SCN1A(NM_001165963.4):c.495T>C (p.Y165=), SCN1A(NM_001202435.2):c.495T>C (p.Y165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054745A>G"	""	"likely benign"	""
"0000297918"	"0"	"50"	"2"	"166904265"	"166904265"	"subst"	"0"	"02325"	"SCN1A_000245"	"g.166904265C>T"	""	""	""	"SCN1A(NM_001202435.3):c.1042G>A (p.G348R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047755C>T"	""	"VUS"	""
"0000297919"	"0"	"10"	"2"	"166903498"	"166903499"	"del"	"0"	"02325"	"SCN1A_000241"	"g.166903498_166903499del"	""	""	""	"SCN1A(NM_001165963.1):c.1171-10_1171-9del (p.(=)), SCN1A(NM_001165963.3):c.1171-10_1171-9delTT, SCN1A(NM_001202435.3):c.1171-10_1171-9delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046988_166046989del"	""	"benign"	""
"0000297920"	"0"	"10"	"2"	"166903445"	"166903445"	"subst"	"0.707376"	"02325"	"SCN1A_000237"	"g.166903445T>C"	""	""	""	"SCN1A(NM_001202435.3):c.1212A>G (p.V404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046935T>C"	""	"benign"	""
"0000297921"	"0"	"30"	"2"	"166897989"	"166897989"	"subst"	"0"	"02325"	"SCN1A_000207"	"g.166897989G>A"	""	""	""	"SCN1A(NM_001202435.3):c.2177-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041479G>A"	""	"likely benign"	""
"0000297923"	"0"	"70"	"2"	"166897749"	"166897749"	"subst"	"0"	"02325"	"SCN1A_000202"	"g.166897749C>T"	""	""	""	"SCN1A(NM_001202435.3):c.2407G>A (p.G803R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041239C>T"	""	"likely pathogenic"	""
"0000297924"	"0"	"10"	"2"	"166895929"	"166895930"	"del"	"0"	"02325"	"SCN1A_000198"	"g.166895929_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+18_2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+18_2589+19delAA, SCN1A(NM_001202435.3):c.2589+18_2589+19delAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039419_166039420del"	""	"benign"	""
"0000297925"	"0"	"30"	"2"	"166895930"	"166895930"	"del"	"0"	"02325"	"SCN1A_000199"	"g.166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+19delA, SCN1A(NM_001202435.3):c.2589+19delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039420del"	""	"likely benign"	""
"0000297926"	"0"	"10"	"2"	"166892788"	"166892788"	"subst"	"0.724857"	"02325"	"SCN1A_000187"	"g.166892788C>T"	""	""	""	"SCN1A(NM_001202435.3):c.3199G>A (p.A1067T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036278C>T"	""	"benign"	""
"0000297927"	"0"	"50"	"2"	"166892767"	"166892767"	"subst"	"4.06772E-6"	"02325"	"SCN1A_000186"	"g.166892767C>T"	""	""	""	"SCN1A(NM_001202435.3):c.3220G>A (p.D1074N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036257C>T"	""	"VUS"	""
"0000297928"	"0"	"90"	"2"	"166872115"	"166872117"	"del"	"0"	"02325"	"SCN1A_000173"	"g.166872115_166872117del"	""	""	""	"SCN1A(NM_001202435.3):c.3550_3550+2delGGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166015605_166015607del"	""	"pathogenic"	""
"0000297929"	"0"	"30"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"02325"	"SCN1A_000111"	"g.166866307T>A"	""	""	""	"SCN1A(NM_001165963.1):c.3924A>T (p.(Glu1308Asp)), SCN1A(NM_001165963.2):c.3924A>T (p.E1308D), SCN1A(NM_001165963.3):c.3924A>T (p.E1308D), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009797T>A"	""	"likely benign"	""
"0000297930"	"0"	"30"	"2"	"166850785"	"166850785"	"subst"	"7.74486E-5"	"02325"	"SCN1A_000138"	"g.166850785G>A"	""	""	""	"SCN1A(NM_001202435.3):c.4723C>T (p.R1575C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994275G>A"	""	"likely benign"	""
"0000297931"	"0"	"30"	"2"	"166848898"	"166848898"	"subst"	"0.00011787"	"02325"	"SCN1A_000134"	"g.166848898G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4887C>T (p.F1629=), SCN1A(NM_001202435.3):c.4887C>T (p.F1629=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992388G>A"	""	"likely benign"	""
"0000297932"	"0"	"10"	"2"	"166848367"	"166848367"	"subst"	"0.0136103"	"02325"	"SCN1A_000100"	"g.166848367C>T"	""	""	""	"SCN1A(NM_001165963.1):c.5418G>A (p.(Glu1806=)), SCN1A(NM_001165963.3):c.5418G>A (p.E1806=), SCN1A(NM_001202435.3):c.5418G>A (p.E1806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991857C>T"	""	"benign"	""
"0000299352"	"0"	"50"	"2"	"166901738"	"166901738"	"subst"	"0"	"02329"	"SCN1A_000231"	"g.166901738T>G"	""	""	""	"SCN1A(NM_001202435.3):c.1477A>C (p.S493R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045228T>G"	""	"VUS"	""
"0000301661"	"0"	"30"	"2"	"166930192"	"166930192"	"subst"	"0"	"02326"	"SCN1A_000275"	"g.166930192G>T"	""	""	""	"SCN1A(NM_001202435.3):c.-49-12C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166073682G>T"	""	"likely benign"	""
"0000301663"	"0"	"30"	"2"	"166847542"	"166847542"	"subst"	"0"	"02326"	"SCN1A_000114"	"g.166847542C>T"	""	""	""	"SCN1A(NM_001165963.3):c.*213G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991032C>T"	""	"likely benign"	""
"0000301664"	"0"	"30"	"2"	"166905284"	"166905284"	"subst"	"0"	"02326"	"SCN1A_000246"	"g.166905284G>T"	""	""	""	"SCN1A(NM_001165963.3):c.1028+112C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166048774G>T"	""	"likely benign"	""
"0000301665"	"0"	"30"	"2"	"166904176"	"166904176"	"subst"	"0.00166819"	"02326"	"SCN1A_000313"	"g.166904176T>G"	""	""	""	"SCN1A(NM_001165963.2):c.1131A>C (p.R377=), SCN1A(NM_001165963.3):c.1131A>C (p.R377=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047666T>G"	""	"likely benign"	""
"0000301666"	"0"	"30"	"2"	"166904024"	"166904024"	"subst"	"0"	"02326"	"SCN1A_000095"	"g.166904024C>T"	""	""	""	"SCN1A(NM_001165963.3):c.1170+113G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047514C>T"	""	"likely benign"	""
"0000301667"	"0"	"30"	"2"	"166904121"	"166904121"	"subst"	"4.47405E-5"	"02326"	"SCN1A_000243"	"g.166904121G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1170+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047611G>A"	""	"likely benign"	""
"0000301668"	"0"	"30"	"2"	"166904061"	"166904061"	"subst"	"0"	"02326"	"SCN1A_000242"	"g.166904061G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1170+76C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047551G>A"	""	"likely benign"	""
"0000301669"	"0"	"10"	"2"	"166903498"	"166903499"	"del"	"0"	"02326"	"SCN1A_000240"	"g.166903498_166903499del"	""	""	""	"SCN1A(NM_001165963.1):c.1171-10_1171-9del (p.(=)), SCN1A(NM_001165963.3):c.1171-10_1171-9delTT, SCN1A(NM_001202435.3):c.1171-10_1171-9delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046988_166046989del"	""	"benign"	""
"0000301670"	"0"	"10"	"2"	"166903494"	"166903495"	"del"	"0"	"02326"	"SCN1A_000239"	"g.166903494_166903495del"	""	""	""	"SCN1A(NM_001165963.3):c.1171-8_1171-7delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046984_166046985del"	""	"benign"	""
"0000301671"	"0"	"90"	"2"	"166903471"	"166903471"	"subst"	"0"	"02326"	"SCN1A_000238"	"g.166903471C>A"	""	""	""	"SCN1A(NM_001165963.3):c.1186G>T (p.G396W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046961C>A"	""	"pathogenic"	""
"0000301672"	"0"	"70"	"2"	"166903385"	"166903385"	"subst"	"0"	"02326"	"SCN1A_000236"	"g.166903385C>A"	""	""	""	"SCN1A(NM_001165963.3):c.1272G>T (p.M424I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046875C>A"	""	"likely pathogenic"	""
"0000301673"	"0"	"90"	"2"	"166903372"	"166903372"	"subst"	"0"	"02326"	"SCN1A_000235"	"g.166903372G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1285C>T (p.Q429*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046862G>A"	""	"pathogenic"	""
"0000301674"	"0"	"10"	"2"	"166901998"	"166901998"	"del"	"0"	"02326"	"SCN1A_000233"	"g.166901998del"	""	""	""	"SCN1A(NM_001165963.3):c.1378-152delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045488del"	""	"benign"	""
"0000301675"	"0"	"30"	"2"	"166901502"	"166901503"	"del"	"0"	"02326"	"SCN1A_000228"	"g.166901502_166901503del"	""	""	""	"SCN1A(NM_001165963.3):c.1662+55_1662+56delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166044992_166044993del"	""	"likely benign"	""
"0000301676"	"0"	"10"	"2"	"166901544"	"166901544"	"subst"	"0.00483188"	"02326"	"SCN1A_000229"	"g.166901544G>T"	""	""	""	"SCN1A(NM_001165963.3):c.1662+9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045034G>T"	""	"benign"	""
"0000301677"	"0"	"90"	"2"	"166900520"	"166900520"	"subst"	"0"	"02326"	"SCN1A_000074"	"g.166900520G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1702C>T (p.R568*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166044010G>A"	""	"pathogenic"	""
"0000301678"	"0"	"30"	"2"	"166900411"	"166900411"	"subst"	"0.001479"	"02326"	"SCN1A_000226"	"g.166900411C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1811G>A (p.(Arg604His)), SCN1A(NM_001165963.3):c.1811G>A (p.R604H), SCN1A(NM_001202435.2):c.1811G>A (p.R604H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043901C>T"	""	"likely benign"	""
"0000301679"	"0"	"10"	"2"	"166900401"	"166900401"	"subst"	"0"	"02326"	"SCN1A_000225"	"g.166900401G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1821C>T (p.S607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043891G>A"	""	"benign"	""
"0000301680"	"0"	"90"	"2"	"166900385"	"166900385"	"subst"	"0"	"02326"	"SCN1A_000224"	"g.166900385G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1837C>T (p.R613*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043875G>A"	""	"pathogenic"	""
"0000301681"	"0"	"30"	"2"	"166900380"	"166900380"	"subst"	"1.21892E-5"	"02326"	"SCN1A_000223"	"g.166900380G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1842C>T (p.H614=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043870G>A"	""	"likely benign"	""
"0000301682"	"0"	"30"	"2"	"166900312"	"166900312"	"subst"	"4.06398E-6"	"02326"	"SCN1A_000222"	"g.166900312G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1910C>T (p.A637V), SCN1A(NM_001202435.2):c.1910C>T (p.A637V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043802G>A"	""	"likely benign"	""
"0000301683"	"0"	"30"	"2"	"166900214"	"166900214"	"subst"	"0"	"02326"	"SCN1A_000221"	"g.166900214C>G"	""	""	""	"SCN1A(NM_001165963.3):c.2008G>C (p.E670Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043704C>G"	""	"likely benign"	""
"0000301684"	"0"	"30"	"2"	"166900072"	"166900072"	"subst"	"0"	"02326"	"SCN1A_000219"	"g.166900072C>T"	""	""	""	"SCN1A(NM_001165963.3):c.2043+107G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043562C>T"	""	"likely benign"	""
"0000301685"	"0"	"90"	"2"	"166898865"	"166898865"	"subst"	"0"	"02326"	"SCN1A_000213"	"g.166898865C>A"	""	""	""	"SCN1A(NM_001165963.3):c.2113G>T (p.E705*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042355C>A"	""	"pathogenic"	""
"0000301686"	"0"	"10"	"2"	"166898785"	"166898785"	"subst"	"0.00906384"	"02326"	"SCN1A_000212"	"g.166898785T>C"	""	""	""	"SCN1A(NM_001165963.1):c.2176+17A>G (p.(=)), SCN1A(NM_001165963.3):c.2176+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042275T>C"	""	"benign"	""
"0000301687"	"0"	"30"	"2"	"166898758"	"166898758"	"subst"	"0.00282368"	"02326"	"SCN1A_000071"	"g.166898758G>A"	""	""	""	"SCN1A(NM_001165963.3):c.2176+44C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042248G>A"	""	"likely benign"	""
"0000301688"	"0"	"10"	"2"	"166898002"	"166898003"	"del"	"0"	"02326"	"SCN1A_000209"	"g.166898002_166898003del"	""	""	""	"SCN1A(NM_001165963.3):c.2177-12_2177-11delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041492_166041493del"	""	"benign"	""
"0000301689"	"0"	"30"	"2"	"166898003"	"166898003"	"dup"	"0"	"02326"	"SCN1A_000208"	"g.166898003dup"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11dup (p.(=)), SCN1A(NM_001165963.3):c.2177-11dupT, SCN1A(NM_001202435.2):c.2177-11dupT, SCN1A(NM_001202435.3):c.2177-..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041493dup"	""	"likely benign"	""
"0000301690"	"0"	"90"	"2"	"166895946"	"166895946"	"subst"	"0"	"02326"	"SCN1A_000063"	"g.166895946C>T"	""	""	""	"SCN1A(NM_001165963.3):c.2576G>A (p.R859H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039436C>T"	""	"pathogenic"	""
"0000301691"	"0"	"30"	"2"	"166895927"	"166895930"	"del"	"0"	"02326"	"SCN1A_000196"	"g.166895927_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+16_2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+16_2589+19delAAAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039417_166039420del"	""	"likely benign"	""
"0000301692"	"0"	"30"	"2"	"166895930"	"166895930"	"del"	"0"	"02326"	"SCN1A_000197"	"g.166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+19delA, SCN1A(NM_001202435.3):c.2589+19delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039420del"	""	"likely benign"	""
"0000301693"	"0"	"90"	"2"	"166895930"	"166895930"	"subst"	"0"	"02326"	"SCN1A_000200"	"g.166895930T>A"	""	""	""	"SCN1A(NM_001165963.3):c.2589+3A>T, SCN1A(NM_001165963.4):c.2589+3A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039420T>A"	""	"pathogenic"	""
"0000301694"	"0"	"90"	"2"	"166894639"	"166894639"	"subst"	"0"	"02326"	"SCN1A_000195"	"g.166894639G>A"	""	""	""	"SCN1A(NM_001165963.3):c.2593C>T (p.R865*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166038129G>A"	""	"pathogenic"	""
"0000301695"	"0"	"90"	"2"	"166894441"	"166894441"	"subst"	"0"	"02326"	"SCN1A_000194"	"g.166894441G>A"	""	""	""	"SCN1A(NM_001165963.3):c.2791C>T (p.R931C), SCN1A(NM_001165963.4):c.2791C>T (p.R931C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037931G>A"	""	"pathogenic"	""
"0000301696"	"0"	"90"	"2"	"166894395"	"166894395"	"subst"	"0"	"02326"	"SCN1A_000061"	"g.166894395C>T"	""	""	""	"SCN1A(NM_001165963.3):c.2837G>A (p.R946H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037885C>T"	""	"pathogenic"	""
"0000301698"	"0"	"10"	"2"	"166894174"	"166894174"	"dup"	"0"	"02326"	"SCN1A_000192"	"g.166894174dup"	""	""	""	"SCN1A(NM_001165963.3):c.2946+120dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037664dup"	""	"benign"	""
"0000301700"	"0"	"30"	"2"	"166894174"	"166894174"	"del"	"0"	"02326"	"SCN1A_000193"	"g.166894174del"	""	""	""	"SCN1A(NM_001165963.3):c.2946+120delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037664del"	""	"likely benign"	""
"0000301702"	"0"	"30"	"2"	"166894209"	"166894209"	"subst"	"0"	"02326"	"SCN1A_000057"	"g.166894209T>C"	""	""	""	"SCN1A(NM_001165963.3):c.2946+77A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037699T>C"	""	"likely benign"	""
"0000301703"	"0"	"30"	"2"	"166893165"	"166893165"	"subst"	"0"	"02326"	"SCN1A_000055"	"g.166893165C>A"	""	""	""	"SCN1A(NM_001165963.3):c.2947-125G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036655C>A"	""	"likely benign"	""
"0000301704"	"0"	"90"	"2"	"166893022"	"166893022"	"subst"	"0"	"02326"	"SCN1A_000189"	"g.166893022C>G"	""	""	""	"SCN1A(NM_001165963.3):c.2965G>C (p.A989P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036512C>G"	""	"pathogenic"	""
"0000301705"	"0"	"90"	"2"	"166915162"	"166915162"	"subst"	"0"	"02326"	"SCN1A_000099"	"g.166915162G>A"	""	""	""	"SCN1A(NM_001165963.3):c.301C>T (p.R101W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058652G>A"	""	"pathogenic"	""
"0000301706"	"0"	"90"	"2"	"166892626"	"166892626"	"subst"	"0"	"02326"	"SCN1A_000053"	"g.166892626C>A"	""	""	""	"SCN1A(NM_001165963.3):c.3361G>T (p.E1121*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036116C>A"	""	"pathogenic"	""
"0000301707"	"0"	"30"	"2"	"166892584"	"166892584"	"subst"	"0"	"02326"	"SCN1A_000185"	"g.166892584C>T"	""	""	""	"SCN1A(NM_001165963.3):c.3403G>A (p.E1135K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036074C>T"	""	"likely benign"	""
"0000301708"	"0"	"30"	"2"	"166892457"	"166892459"	"del"	"0"	"02326"	"SCN1A_000181"	"g.166892457_166892459del"	""	""	""	"SCN1A(NM_001165963.3):c.3429+111_3429+113delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035947_166035949del"	""	"likely benign"	""
"0000301710"	"0"	"30"	"2"	"166892456"	"166892459"	"del"	"0"	"02326"	"SCN1A_000180"	"g.166892456_166892459del"	""	""	""	"SCN1A(NM_001165963.3):c.3429+110_3429+113delTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035946_166035949del"	""	"likely benign"	""
"0000301711"	"0"	"30"	"2"	"166892455"	"166892459"	"del"	"0"	"02326"	"SCN1A_000178"	"g.166892455_166892459del"	""	""	""	"SCN1A(NM_001165963.3):c.3429+109_3429+113delTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166035945_166035949del"	""	"likely benign"	""
"0000301717"	"0"	"70"	"2"	"166872240"	"166872240"	"subst"	"0"	"02326"	"SCN1A_000174"	"g.166872240G>C"	""	""	""	"SCN1A(NM_001165963.3):c.3430-3C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166015730G>C"	""	"likely pathogenic"	""
"0000301718"	"0"	"90"	"2"	"166915111"	"166915111"	"subst"	"0"	"02326"	"SCN1A_000273"	"g.166915111T>C"	""	""	""	"SCN1A(NM_001165963.3):c.352A>G (p.R118G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058601T>C"	""	"pathogenic"	""
"0000301719"	"0"	"30"	"2"	"166870475"	"166870475"	"subst"	"0"	"02326"	"SCN1A_000172"	"g.166870475C>T"	""	""	""	"SCN1A(NM_001165963.3):c.3551-67G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166013965C>T"	""	"likely benign"	""
"0000301720"	"0"	"90"	"2"	"166870322"	"166870322"	"subst"	"0"	"02326"	"SCN1A_000171"	"g.166870322G>A"	""	""	""	"SCN1A(NM_001165963.3):c.3637C>T (p.R1213*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166013812G>A"	""	"pathogenic"	""
"0000301721"	"0"	"10"	"2"	"166870199"	"166870199"	"subst"	"0"	"02326"	"SCN1A_000047"	"g.166870199G>C"	""	""	""	"SCN1A(NM_001165963.3):c.3705+55C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166013689G>C"	""	"benign"	""
"0000301722"	"0"	"90"	"2"	"166868783"	"166868783"	"subst"	"0"	"02326"	"SCN1A_000169"	"g.166868783C>A"	""	""	""	"SCN1A(NM_001165963.3):c.3715G>T (p.D1239Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166012273C>A"	""	"pathogenic"	""
"0000301723"	"0"	"10"	"2"	"166913030"	"166913030"	"subst"	"0.00628432"	"02326"	"SCN1A_000271"	"g.166913030C>G"	""	""	""	"SCN1A(NM_001165963.1):c.384-20G>C (p.(=)), SCN1A(NM_001165963.3):c.384-20G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166056520C>G"	""	"benign"	""
"0000301724"	"0"	"30"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"02326"	"SCN1A_000111"	"g.166866307T>A"	""	""	""	"SCN1A(NM_001165963.1):c.3924A>T (p.(Glu1308Asp)), SCN1A(NM_001165963.2):c.3924A>T (p.E1308D), SCN1A(NM_001165963.3):c.3924A>T (p.E1308D), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009797T>A"	""	"likely benign"	""
"0000301725"	"0"	"90"	"2"	"166866245"	"166866245"	"subst"	"0"	"02326"	"SCN1A_000163"	"g.166866245C>A"	""	""	""	"SCN1A(NM_001165963.3):c.3986G>T (p.R1329L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009735C>A"	""	"pathogenic"	""
"0000301726"	"0"	"70"	"2"	"166859170"	"166859170"	"subst"	"0"	"02326"	"SCN1A_000162"	"g.166859170C>A"	""	""	""	"SCN1A(NM_001165963.3):c.4096G>T (p.V1366L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166002660C>A"	""	"likely pathogenic"	""
"0000301727"	"0"	"30"	"2"	"166858884"	"166858884"	"subst"	"0"	"02326"	"SCN1A_000159"	"g.166858884T>C"	""	""	""	"SCN1A(NM_001165963.3):c.4284+98A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166002374T>C"	""	"likely benign"	""
"0000301728"	"0"	"90"	"2"	"166856288"	"166856288"	"subst"	"0"	"02326"	"SCN1A_000156"	"g.166856288T>C"	""	""	""	"SCN1A(NM_001165963.3):c.4285-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999778T>C"	""	"pathogenic"	""
"0000301729"	"0"	"30"	"2"	"166856385"	"166856385"	"subst"	"0"	"02326"	"SCN1A_000158"	"g.166856385T>G"	""	""	""	"SCN1A(NM_001165963.3):c.4285-99A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999875T>G"	""	"likely benign"	""
"0000301730"	"0"	"70"	"2"	"166856282"	"166856282"	"subst"	"0"	"02326"	"SCN1A_000155"	"g.166856282G>T"	""	""	""	"SCN1A(NM_001165963.3):c.4289C>A (p.T1430K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999772G>T"	""	"likely pathogenic"	""
"0000301731"	"0"	"90"	"2"	"166856273"	"166856273"	"subst"	"0"	"02326"	"SCN1A_000154"	"g.166856273C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4298G>A (p.G1433E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999763C>T"	""	"pathogenic"	""
"0000301732"	"0"	"30"	"2"	"166856272"	"166856272"	"subst"	"0"	"02326"	"SCN1A_000153"	"g.166856272T>A"	""	""	""	"SCN1A(NM_001165963.3):c.4299A>T (p.G1433=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999762T>A"	""	"likely benign"	""
"0000301733"	"0"	"90"	"2"	"166856243"	"166856243"	"subst"	"0"	"02326"	"SCN1A_000152"	"g.166856243T>G"	""	""	""	"SCN1A(NM_001165963.3):c.4328A>C (p.D1443A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165999733T>G"	""	"pathogenic"	""
"0000301734"	"0"	"30"	"2"	"166854703"	"166854703"	"subst"	"0"	"02326"	"SCN1A_000150"	"g.166854703T>G"	""	""	""	"SCN1A(NM_001165963.3):c.4339-18A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165998193T>G"	""	"likely benign"	""
"0000301736"	"0"	"30"	"2"	"166854544"	"166854544"	"subst"	"0"	"02326"	"SCN1A_000149"	"g.166854544T>G"	""	""	""	"SCN1A(NM_001165963.3):c.4476+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165998034T>G"	""	"likely benign"	""
"0000301737"	"0"	"30"	"2"	"166852664"	"166852664"	"subst"	"0.00152943"	"02326"	"SCN1A_000147"	"g.166852664T>C"	""	""	""	"SCN1A(NM_001165963.3):c.4477-37A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996154T>C"	""	"likely benign"	""
"0000301738"	"0"	"30"	"2"	"166852680"	"166852680"	"subst"	"0"	"02326"	"SCN1A_000148"	"g.166852680T>C"	""	""	""	"SCN1A(NM_001165963.3):c.4477-53A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996170T>C"	""	"likely benign"	""
"0000301739"	"0"	"90"	"2"	"166852557"	"166852557"	"subst"	"0"	"02326"	"SCN1A_000146"	"g.166852557G>T"	""	""	""	"SCN1A(NM_001165963.3):c.4547C>A (p.S1516*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996047G>T"	""	"pathogenic"	""
"0000301740"	"0"	"10"	"2"	"166852553"	"166852553"	"subst"	"0.000456022"	"02326"	"SCN1A_000145"	"g.166852553T>C"	""	""	""	"SCN1A(NM_001165963.2):c.4551A>G (p.K1517=), SCN1A(NM_001165963.3):c.4551A>G (p.K1517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996043T>C"	""	"benign"	""
"0000301741"	"0"	"70"	"2"	"166852552"	"166852552"	"subst"	"0"	"02326"	"SCN1A_000144"	"g.166852552T>C"	""	""	""	"SCN1A(NM_001165963.3):c.4552A>G (p.K1518E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996042T>C"	""	"likely pathogenic"	""
"0000301742"	"0"	"70"	"2"	"166852549"	"166852549"	"subst"	"0"	"02326"	"SCN1A_000142"	"g.166852549G>T"	""	""	""	"SCN1A(NM_001165963.3):c.4555C>A (p.P1519T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996039G>T"	""	"likely pathogenic"	""
"0000301743"	"0"	"70"	"2"	"166852549"	"166852549"	"subst"	"0"	"02326"	"SCN1A_000143"	"g.166852549G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4555C>T (p.P1519S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996039G>A"	""	"likely pathogenic"	""
"0000301744"	"0"	"90"	"2"	"166852531"	"166852531"	"subst"	"0"	"02326"	"SCN1A_000029"	"g.166852531G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4573C>T (p.R1525*), SCN1A(NM_001165963.4):c.4573C>T (p.R1525*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996021G>A"	""	"pathogenic"	""
"0000301745"	"0"	"30"	"2"	"166852489"	"166852489"	"subst"	"0"	"02326"	"SCN1A_000141"	"g.166852489G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4581+34C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165995979G>A"	""	"likely benign"	""
"0000301746"	"0"	"30"	"2"	"166851036"	"166851036"	"subst"	"0"	"02326"	"SCN1A_000139"	"g.166851036G>T"	""	""	""	"SCN1A(NM_001165963.3):c.4582-110C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994526G>T"	""	"likely benign"	""
"0000301747"	"0"	"90"	"2"	"166850751"	"166850751"	"subst"	"0"	"02326"	"SCN1A_000136"	"g.166850751C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4757G>A (p.G1586E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994241C>T"	""	"pathogenic"	""
"0000301748"	"0"	"90"	"2"	"166850722"	"166850722"	"subst"	"0"	"02326"	"SCN1A_000083"	"g.166850722G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4786C>T (p.R1596C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994212G>A"	""	"pathogenic"	""
"0000301749"	"0"	"30"	"2"	"166848913"	"166848913"	"subst"	"0.000276634"	"02326"	"SCN1A_000135"	"g.166848913C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4872G>A (p.L1624=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992403C>T"	""	"likely benign"	""
"0000301750"	"0"	"70"	"2"	"166911263"	"166911263"	"subst"	"0"	"02326"	"SCN1A_000268"	"g.166911263C>T"	""	""	""	"SCN1A(NM_001165963.3):c.487G>A (p.G163R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054753C>T"	""	"likely pathogenic"	""
"0000301751"	"0"	"90"	"2"	"166848852"	"166848852"	"subst"	"0"	"02326"	"SCN1A_000131"	"g.166848852G>C"	""	""	""	"SCN1A(NM_001165963.3):c.4933C>G (p.R1645G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992342G>C"	""	"pathogenic"	""
"0000301752"	"0"	"90"	"2"	"166848852"	"166848852"	"subst"	"0"	"02326"	"SCN1A_000132"	"g.166848852G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4933C>T (p.R1645*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992342G>A"	""	"pathogenic"	""
"0000301753"	"0"	"90"	"2"	"166848769"	"166848769"	"subst"	"0"	"02326"	"SCN1A_000130"	"g.166848769G>T"	""	""	""	"SCN1A(NM_001165963.3):c.5016C>A (p.N1672K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992259G>T"	""	"pathogenic"	""
"0000301754"	"0"	"30"	"2"	"166848765"	"166848765"	"subst"	"0"	"02326"	"SCN1A_000129"	"g.166848765C>T"	""	""	""	"SCN1A(NM_001165963.3):c.5020G>A (p.G1674S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992255C>T"	""	"likely benign"	""
"0000301755"	"0"	"70"	"2"	"166848723"	"166848723"	"subst"	"0"	"02326"	"SCN1A_000077"	"g.166848723C>T"	""	""	""	"SCN1A(NM_001165963.3):c.5062G>A (p.G1688R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992213C>T"	""	"likely pathogenic"	""
"0000301756"	"0"	"70"	"2"	"166848467"	"166848467"	"subst"	"0"	"02326"	"SCN1A_000125"	"g.166848467G>T"	""	""	""	"SCN1A(NM_001165963.3):c.5318C>A (p.S1773Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991957G>T"	""	"likely pathogenic"	""
"0000301757"	"0"	"70"	"2"	"166848453"	"166848453"	"subst"	"0"	"02326"	"SCN1A_000101"	"g.166848453C>T"	""	""	""	"SCN1A(NM_001165963.3):c.5332G>A (p.V1778M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991943C>T"	""	"likely pathogenic"	""
"0000301758"	"0"	"90"	"2"	"166848437"	"166848437"	"subst"	"0"	"02326"	"SCN1A_000124"	"g.166848437G>A"	""	""	""	"SCN1A(NM_001165963.3):c.5348C>T (p.A1783V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991927G>A"	""	"pathogenic"	""
"0000301759"	"0"	"10"	"2"	"166848367"	"166848367"	"subst"	"0.0136103"	"02326"	"SCN1A_000100"	"g.166848367C>T"	""	""	""	"SCN1A(NM_001165963.1):c.5418G>A (p.(Glu1806=)), SCN1A(NM_001165963.3):c.5418G>A (p.E1806=), SCN1A(NM_001202435.3):c.5418G>A (p.E1806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991857C>T"	""	"benign"	""
"0000301760"	"0"	"70"	"2"	"166848221"	"166848221"	"subst"	"0"	"02326"	"SCN1A_000122"	"g.166848221G>T"	""	""	""	"SCN1A(NM_001165963.3):c.5564C>A (p.P1855H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991711G>T"	""	"likely pathogenic"	""
"0000301761"	"0"	"70"	"2"	"166911190"	"166911190"	"subst"	"0"	"02326"	"SCN1A_000265"	"g.166911190C>G"	""	""	""	"SCN1A(NM_001165963.3):c.560G>C (p.R187P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054680C>G"	""	"likely pathogenic"	""
"0000301762"	"0"	"70"	"2"	"166848165"	"166848165"	"subst"	"0"	"02326"	"SCN1A_000120"	"g.166848165G>A"	""	""	""	"SCN1A(NM_001165963.3):c.5620C>T (p.R1874W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991655G>A"	""	"likely pathogenic"	""
"0000301763"	"0"	"30"	"2"	"166847834"	"166847834"	"subst"	"0.00017511"	"02326"	"SCN1A_000118"	"g.166847834G>T"	""	""	""	"SCN1A(NM_001165963.3):c.5951C>A (p.P1984H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991324G>T"	""	"likely benign"	""
"0000301764"	"0"	"30"	"2"	"166847801"	"166847801"	"subst"	"0"	"02326"	"SCN1A_000116"	"g.166847801T>C"	""	""	""	"SCN1A(NM_001202435.3):c.5984A>G (p.E1995G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991291T>C"	""	"likely benign"	""
"0000301765"	"0"	"90"	"2"	"166911147"	"166911147"	"subst"	"0"	"02326"	"SCN1A_000263"	"g.166911147C>G"	""	""	""	"SCN1A(NM_001165963.3):c.602+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054637C>G"	""	"pathogenic"	""
"0000301767"	"0"	"70"	"2"	"166911148"	"166911148"	"subst"	"0"	"02326"	"SCN1A_000264"	"g.166911148G>A"	""	""	""	"SCN1A(NM_001165963.3):c.602C>T (p.A201V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054638G>A"	""	"likely pathogenic"	""
"0000301768"	"0"	"30"	"2"	"166909560"	"166909560"	"subst"	"0"	"02326"	"SCN1A_000260"	"g.166909560G>A"	""	""	""	"SCN1A(NM_001165963.3):c.603-107C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166053050G>A"	""	"likely benign"	""
"0000301769"	"0"	"30"	"2"	"166909596"	"166909596"	"subst"	"0"	"02326"	"SCN1A_000261"	"g.166909596C>T"	""	""	""	"SCN1A(NM_001165963.3):c.603-143G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166053086C>T"	""	"likely benign"	""
"0000301770"	"0"	"90"	"2"	"166909379"	"166909379"	"subst"	"0"	"02326"	"SCN1A_000258"	"g.166909379G>A"	""	""	""	"SCN1A(NM_001165963.1):c.677C>T (p.(Thr226Met)), SCN1A(NM_001165963.3):c.677C>T (p.T226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052869G>A"	""	"pathogenic"	""
"0000301771"	"0"	"30"	"2"	"166930064"	"166930064"	"subst"	"0.000357514"	"02326"	"SCN1A_000274"	"g.166930064G>A"	""	""	""	"SCN1A(NM_001165963.3):c.68C>T (p.A23V), SCN1A(NM_001165963.4):c.68C>T (p.A23V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166073554G>A"	""	"likely benign"	""
"0000301772"	"0"	"30"	"2"	"166909352"	"166909352"	"subst"	"0.000102255"	"02326"	"SCN1A_000256"	"g.166909352T>C"	""	""	""	"SCN1A(NM_001165963.2):c.694+10A>G, SCN1A(NM_001165963.3):c.694+10A>G, SCN1A(NM_001165963.4):c.694+10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052842T>C"	""	"likely benign"	""
"0000301773"	"0"	"30"	"2"	"166909178"	"166909178"	"subst"	"0"	"02326"	"SCN1A_000255"	"g.166909178C>T"	""	""	""	"SCN1A(NM_001165963.3):c.694+184G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052668C>T"	""	"likely benign"	""
"0000301775"	"0"	"90"	"2"	"166908433"	"166908433"	"subst"	"0"	"02326"	"SCN1A_000250"	"g.166908433T>G"	""	""	""	"SCN1A(NM_001165963.3):c.760A>C (p.T254P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166051923T>G"	""	"pathogenic"	""
"0000301776"	"0"	"90"	"2"	"166908418"	"166908418"	"subst"	"0"	"02326"	"SCN1A_000249"	"g.166908418T>G"	""	""	""	"SCN1A(NM_001165963.3):c.775A>C (p.S259R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166051908T>G"	""	"pathogenic"	""
"0000301777"	"0"	"30"	"2"	"166908120"	"166908126"	"del"	"0"	"02326"	"SCN1A_000248"	"g.166908120_166908126del"	""	""	""	"SCN1A(NM_001165963.3):c.964+104_964+110delTGATTAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166051610_166051616del"	""	"likely benign"	""
"0000301778"	"0"	"70"	"2"	"166905429"	"166905429"	"subst"	"0"	"02326"	"SCN1A_000247"	"g.166905429T>C"	""	""	""	"SCN1A(NM_001165963.3):c.995A>G (p.D332G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166048919T>C"	""	"likely pathogenic"	""
"0000307737"	"0"	"50"	"2"	"166901726"	"166901726"	"subst"	"0"	"01943"	"SCN1A_000230"	"g.166901726T>C"	""	""	""	"SCN1A(NM_001202435.2):c.1489A>G (p.R497G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045216T>C"	""	"VUS"	""
"0000307738"	"0"	"10"	"2"	"166898003"	"166898003"	"dup"	"0"	"01943"	"SCN1A_000208"	"g.166898003dup"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11dup (p.(=)), SCN1A(NM_001165963.3):c.2177-11dupT, SCN1A(NM_001202435.2):c.2177-11dupT, SCN1A(NM_001202435.3):c.2177-..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041493dup"	""	"benign"	""
"0000307739"	"0"	"30"	"2"	"166848840"	"166848840"	"subst"	"0.00143414"	"01943"	"SCN1A_000080"	"g.166848840G>A"	""	""	""	"SCN1A(NM_001202435.2):c.4945C>T (p.L1649=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992330G>A"	""	"likely benign"	""
"0000307740"	"0"	"50"	"2"	"166848176"	"166848176"	"subst"	"0"	"01943"	"SCN1A_000121"	"g.166848176G>A"	""	""	""	"SCN1A(NM_001202435.2):c.5609C>T (p.A1870V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991666G>A"	""	"VUS"	""
"0000307741"	"0"	"30"	"2"	"166909378"	"166909378"	"subst"	"8.16133E-6"	"01943"	"SCN1A_000257"	"g.166909378C>T"	""	""	""	"SCN1A(NM_001202435.2):c.678G>A (p.T226=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052868C>T"	""	"likely benign"	""
"0000327427"	"0"	"50"	"2"	"166866309"	"166866309"	"subst"	"0"	"01804"	"SCN1A_000164"	"g.166866309C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3922G>A (p.(Glu1308Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009799C>T"	""	"VUS"	""
"0000327428"	"0"	"30"	"2"	"166866332"	"166866332"	"subst"	"0.000155125"	"01804"	"SCN1A_000165"	"g.166866332G>A"	""	""	""	"SCN1A(NM_001165963.4):c.3899C>T (p.(Thr1300Ile), p.T1300I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009822G>A"	""	"likely benign"	""
"0000327429"	"0"	"50"	"2"	"166872186"	"166872186"	"subst"	"0.000386446"	"01804"	"SCN1A_000112"	"g.166872186C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3481G>A (p.(Ala1161Thr)), SCN1A(NM_001165963.2):c.3481G>A (p.A1161T), SCN1A(NM_001165963.3):c.3481G>A (p.A1161T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166015676C>T"	""	"VUS"	""
"0000327433"	"0"	"30"	"2"	"166897983"	"166897983"	"subst"	"0"	"01804"	"SCN1A_000205"	"g.166897983G>A"	""	""	""	"SCN1A(NM_001165963.1):c.2177-4C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041473G>A"	""	"likely benign"	""
"0000327434"	"0"	"50"	"2"	"166897988"	"166897988"	"dup"	"0"	"01804"	"SCN1A_000206"	"g.166897988dup"	""	""	""	"SCN1A(NM_001165963.1):c.2177-8dupT (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041478dup"	""	"VUS"	""
"0000327436"	"0"	"30"	"2"	"166900411"	"166900411"	"subst"	"0.001479"	"01804"	"SCN1A_000226"	"g.166900411C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1811G>A (p.(Arg604His)), SCN1A(NM_001165963.3):c.1811G>A (p.R604H), SCN1A(NM_001202435.2):c.1811G>A (p.R604H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043901C>T"	""	"likely benign"	""
"0000327439"	"0"	"90"	"2"	"166909379"	"166909379"	"subst"	"0"	"01804"	"SCN1A_000258"	"g.166909379G>A"	""	""	""	"SCN1A(NM_001165963.1):c.677C>T (p.(Thr226Met)), SCN1A(NM_001165963.3):c.677C>T (p.T226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052869G>A"	""	"pathogenic"	""
"0000337325"	"0"	"10"	"2"	"166901544"	"166901544"	"subst"	"0.00483188"	"02327"	"SCN1A_000229"	"g.166901544G>T"	""	""	""	"SCN1A(NM_001165963.3):c.1662+9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045034G>T"	""	"benign"	""
"0000337327"	"0"	"50"	"2"	"166904281"	"166904281"	"subst"	"0"	"02327"	"SCN1A_000301"	"g.166904281G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047771G>T"	""	"VUS"	""
"0000339519"	"0"	"10"	"2"	"166848367"	"166848367"	"subst"	"0.0136103"	"02327"	"SCN1A_000100"	"g.166848367C>T"	""	""	""	"SCN1A(NM_001165963.1):c.5418G>A (p.(Glu1806=)), SCN1A(NM_001165963.3):c.5418G>A (p.E1806=), SCN1A(NM_001202435.3):c.5418G>A (p.E1806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991857C>T"	""	"benign"	""
"0000339520"	"0"	"30"	"2"	"166893011"	"166893011"	"subst"	"0"	"02327"	"SCN1A_000291"	"g.166893011C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036501C>A"	""	"likely benign"	""
"0000339521"	"0"	"30"	"2"	"166896101"	"166896101"	"subst"	"0.00174599"	"02327"	"SCN1A_000065"	"g.166896101G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039591G>A"	""	"likely benign"	""
"0000339522"	"0"	"10"	"2"	"166915118"	"166915118"	"subst"	"0.007121"	"02327"	"SCN1A_000026"	"g.166915118A>G"	""	""	""	"SCN1A(NM_001165963.1):c.345T>C (p.(Asn115=)), SCN1A(NM_001165963.3):c.345T>C (p.N115=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058608A>G"	""	"benign"	""
"0000340832"	"0"	"30"	"2"	"166866345"	"166866345"	"subst"	"0.00053479"	"02327"	"SCN1A_000287"	"g.166866345A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009835A>G"	""	"likely benign"	""
"0000341079"	"0"	"10"	"2"	"166898785"	"166898785"	"subst"	"0.00906384"	"02327"	"SCN1A_000212"	"g.166898785T>C"	""	""	""	"SCN1A(NM_001165963.1):c.2176+17A>G (p.(=)), SCN1A(NM_001165963.3):c.2176+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042275T>C"	""	"benign"	""
"0000341090"	"0"	"50"	"2"	"166892943"	"166892943"	"subst"	"6.29232E-5"	"02327"	"SCN1A_000289"	"g.166892943G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036433G>A"	""	"VUS"	""
"0000341104"	"0"	"10"	"2"	"166892788"	"166892788"	"subst"	"0.724857"	"02327"	"SCN1A_000187"	"g.166892788C>T"	""	""	""	"SCN1A(NM_001202435.3):c.3199G>A (p.A1067T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036278C>T"	""	"benign"	""
"0000341665"	"0"	"50"	"2"	"166915161"	"166915161"	"subst"	"0"	"02327"	"SCN1A_000305"	"g.166915161C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166058651C>A"	""	"VUS"	""
"0000341792"	"0"	"50"	"2"	"166870321"	"166870321"	"subst"	"2.03625E-5"	"02327"	"SCN1A_000288"	"g.166870321C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166013811C>T"	""	"VUS"	""
"0000341853"	"0"	"90"	"2"	"166866246"	"166866246"	"subst"	"0"	"02327"	"SCN1A_000286"	"g.166866246G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009736G>A"	""	"pathogenic"	""
"0000341854"	"0"	"50"	"2"	"166866245"	"166866245"	"subst"	"0"	"02327"	"SCN1A_000163"	"g.166866245C>A"	""	""	""	"SCN1A(NM_001165963.3):c.3986G>T (p.R1329L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009735C>A"	""	"VUS"	""
"0000342037"	"0"	"90"	"2"	"166848842"	"166848842"	"subst"	"0"	"02327"	"SCN1A_000282"	"g.166848842C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992332C>T"	""	"pathogenic"	""
"0000342158"	"0"	"30"	"2"	"166848003"	"166848003"	"subst"	"0.0013324"	"02327"	"SCN1A_000105"	"g.166848003G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991493G>C"	""	"likely benign"	""
"0000342769"	"0"	"90"	"2"	"166904178"	"166904178"	"subst"	"0"	"02327"	"SCN1A_000299"	"g.166904178G>A"	""	""	""	"SCN1A(NM_001202435.3):c.1129C>T (p.R377*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047668G>A"	""	"pathogenic"	""
"0000342799"	"0"	"90"	"2"	"166903479"	"166903479"	"subst"	"0"	"02327"	"SCN1A_000298"	"g.166903479C>T"	""	""	""	"SCN1A(NM_001202435.3):c.1178G>A (p.R393H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166046969C>T"	""	"pathogenic"	""
"0000343165"	"0"	"30"	"2"	"166900411"	"166900411"	"subst"	"0.001479"	"02327"	"SCN1A_000226"	"g.166900411C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1811G>A (p.(Arg604His)), SCN1A(NM_001165963.3):c.1811G>A (p.R604H), SCN1A(NM_001202435.2):c.1811G>A (p.R604H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166043901C>T"	""	"likely benign"	""
"0000343435"	"0"	"90"	"2"	"166895938"	"166895938"	"subst"	"0"	"02327"	"SCN1A_000294"	"g.166895938G>A"	""	""	""	"SCN1A(NM_001165963.4):c.2584C>T (p.R862*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166039428G>A"	""	"pathogenic"	""
"0000343494"	"0"	"70"	"2"	"166894440"	"166894440"	"subst"	"0"	"02327"	"SCN1A_000292"	"g.166894440C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037930C>T"	""	"likely pathogenic"	""
"0000343502"	"0"	"90"	"2"	"166894395"	"166894395"	"subst"	"0"	"02327"	"SCN1A_000061"	"g.166894395C>T"	""	""	""	"SCN1A(NM_001165963.3):c.2837G>A (p.R946H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037885C>T"	""	"pathogenic"	""
"0000343600"	"0"	"50"	"2"	"166912973"	"166912973"	"subst"	"0"	"02327"	"SCN1A_000304"	"g.166912973T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166056463T>A"	""	"VUS"	""
"0000343625"	"0"	"10"	"2"	"166848421"	"166848421"	"subst"	"0"	"02327"	"SCN1A_000279"	"g.166848421G>T"	""	""	""	"SCN1A(NM_001165963.1):c.5364C>A (p.(Asn1788Lys)), SCN1A(NM_001165963.3):c.5364C>A (p.N1788K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991911G>T"	""	"benign"	""
"0000343979"	"0"	"70"	"2"	"166911170"	"166911170"	"subst"	"0"	"02327"	"SCN1A_000303"	"g.166911170C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166054660C>G"	""	"likely pathogenic"	""
"0000344219"	"0"	"70"	"2"	"166892994"	"166892994"	"subst"	"4.103E-6"	"02327"	"SCN1A_000290"	"g.166892994T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166036484T>C"	""	"likely pathogenic"	""
"0000344369"	"0"	"90"	"2"	"166904254"	"166904254"	"subst"	"0"	"02327"	"SCN1A_000300"	"g.166904254A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166047744A>T"	""	"pathogenic"	""
"0000345108"	"0"	"50"	"2"	"166866309"	"166866309"	"subst"	"0"	"02327"	"SCN1A_000164"	"g.166866309C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3922G>A (p.(Glu1308Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166009799C>T"	""	"VUS"	""
"0000345198"	"0"	"90"	"2"	"166848309"	"166848309"	"subst"	"0"	"02327"	"SCN1A_000278"	"g.166848309C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991799C>A"	""	"pathogenic"	""
"0000345709"	"0"	"90"	"2"	"166859122"	"166859122"	"subst"	"0"	"02327"	"SCN1A_000285"	"g.166859122C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166002612C>A"	""	"pathogenic"	""
"0000345824"	"0"	"50"	"2"	"166847937"	"166847937"	"subst"	"0"	"02327"	"SCN1A_000276"	"g.166847937C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991427C>T"	""	"VUS"	""
"0000346003"	"0"	"50"	"2"	"166905415"	"166905415"	"subst"	"0"	"02327"	"SCN1A_000302"	"g.166905415C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166048905C>G"	""	"VUS"	""
"0000346611"	"0"	"90"	"2"	"166848476"	"166848476"	"subst"	"0"	"02327"	"SCN1A_000280"	"g.166848476A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991966A>T"	""	"pathogenic"	""
"0000346793"	"0"	"50"	"2"	"166898822"	"166898822"	"subst"	"0"	"02327"	"SCN1A_000295"	"g.166898822A>T"	""	""	""	"SCN1A(NM_001165963.1):c.2156T>A (p.(Ile719Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166042312A>T"	""	"VUS"	""
"0000346932"	"0"	"10"	"2"	"166848840"	"166848840"	"subst"	"0.00143414"	"02327"	"SCN1A_000080"	"g.166848840G>A"	""	""	""	"SCN1A(NM_001202435.2):c.4945C>T (p.L1649=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165992330G>A"	""	"benign"	""
"0000347189"	"0"	"50"	"2"	"166901779"	"166901779"	"subst"	"0"	"02327"	"SCN1A_000297"	"g.166901779A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166045269A>G"	""	"VUS"	""
"0000348208"	"0"	"50"	"2"	"166852549"	"166852549"	"subst"	"0"	"02327"	"SCN1A_000143"	"g.166852549G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4555C>T (p.P1519S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996039G>A"	""	"VUS"	""
"0000348733"	"0"	"90"	"2"	"166852557"	"166852557"	"subst"	"0"	"02327"	"SCN1A_000146"	"g.166852557G>T"	""	""	""	"SCN1A(NM_001165963.3):c.4547C>A (p.S1516*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996047G>T"	""	"pathogenic"	""
"0000348734"	"0"	"30"	"2"	"166852557"	"166852557"	"subst"	"2.03669E-5"	"02327"	"SCN1A_000284"	"g.166852557G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4547C>T (p.S1516L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165996047G>A"	""	"likely benign"	""
"0000349343"	"0"	"50"	"2"	"166847984"	"166847984"	"subst"	"0"	"02327"	"SCN1A_000277"	"g.166847984G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165991474G>A"	""	"VUS"	""
"0000349371"	"0"	"90"	"2"	"166909379"	"166909379"	"subst"	"0"	"02327"	"SCN1A_000258"	"g.166909379G>A"	""	""	""	"SCN1A(NM_001165963.1):c.677C>T (p.(Thr226Met)), SCN1A(NM_001165963.3):c.677C>T (p.T226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166052869G>A"	""	"pathogenic"	""
"0000349899"	"0"	"10"	"2"	"166868775"	"166868775"	"subst"	"0.00884715"	"02327"	"SCN1A_000168"	"g.166868775A>G"	""	""	""	"SCN1A(NM_001165963.1):c.3723T>C (p.(Tyr1241=)), SCN1A(NM_001165963.3):c.3723T>C (p.Y1241=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166012265A>G"	""	"benign"	""
"0000350168"	"0"	"50"	"2"	"166929939"	"166929939"	"subst"	"0"	"02327"	"SCN1A_000306"	"g.166929939A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166073429A>G"	""	"VUS"	""
"0000350213"	"0"	"50"	"2"	"166894485"	"166894485"	"subst"	"0"	"02327"	"SCN1A_000293"	"g.166894485T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166037975T>C"	""	"VUS"	""
"0000350323"	"0"	"50"	"2"	"166850773"	"166850773"	"subst"	"0"	"02327"	"SCN1A_000283"	"g.166850773C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994263C>T"	""	"VUS"	""
"0000350655"	"0"	"10"	"2"	"166897864"	"166897864"	"subst"	"0.725242"	"02327"	"SCN1A_000203"	"g.166897864A>G"	""	""	""	"SCN1A(NM_001202435.3):c.2292T>C (p.V764=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.166041354A>G"	""	"benign"	""
"0000350965"	"0"	"30"	"2"	"166850777"	"166850777"	"subst"	"0.00132452"	"02327"	"SCN1A_000086"	"g.166850777A>G"	""	""	""	"SCN1A(NM_001165963.1):c.4731T>C (p.(Asn1577=)), SCN1A(NM_001165963.2):c.4731T>C (p.N1577=), SCN1A(NM_001165963.3):c.4731T>C (p.N1577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.165994267A>G"	""	"likely benign"	""
"0000370557"	"0"	"75"	"2"	"166854557"	"166854557"	"subst"	"0"	"00753"	"SCN1A_000007"	"g.166854557C>G"	""	"{PMID:Le Fort 2004:15277634}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998047C>G"	""	"likely pathogenic"	""
"0000370558"	"20"	"75"	"2"	"166854557"	"166854557"	"subst"	"0"	"00753"	"SCN1A_000007"	"g.166854557C>G"	""	"{PMID:Le Fort 2004:15277634}"	""	"Gln1489His"	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998047C>G"	""	"likely pathogenic"	""
"0000370559"	"0"	"75"	"2"	"166854557"	"166854557"	"subst"	"0"	"00753"	"SCN1A_000007"	"g.166854557C>G"	""	"{PMID:Le Fort 2004:15277634}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998047C>G"	""	"likely pathogenic"	""
"0000370560"	"11"	"75"	"2"	"166854557"	"166854557"	"subst"	"0"	"00753"	"SCN1A_000007"	"g.166854557C>G"	""	"{PMID:Le Fort 2004:15277634}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998047C>G"	""	"likely pathogenic"	""
"0000370561"	"11"	"75"	"2"	"166854557"	"166854557"	"subst"	"0"	"00753"	"SCN1A_000007"	"g.166854557C>G"	""	"{PMID:Le Fort 2004:15277634}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998047C>G"	""	"likely pathogenic"	""
"0000370562"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370563"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370564"	"11"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370565"	"11"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370566"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370567"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370568"	"0"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370569"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370570"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370571"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370572"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370573"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370574"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370575"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370576"	"20"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370577"	"21"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370578"	"11"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370579"	"11"	"77"	"2"	"166854559"	"166854559"	"subst"	"0"	"00753"	"SCN1A_000002"	"g.166854559G>T"	""	"{PMID:Dichgans 2005:16054936}"	""	""	"not in 1400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165998049G>T"	""	"likely pathogenic"	""
"0000370580"	"10"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370581"	"10"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370582"	"11"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370583"	"11"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370584"	"11"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370585"	"21"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370586"	"11"	"77"	"2"	"166848839"	"166848839"	"subst"	"0"	"00753"	"SCN1A_000001"	"g.166848839A>T"	""	"{PMID:Vanmolkot 2007:17397047}"	""	""	"not in 400 chromosomes; amino acid conserved; in vitro expression study performed"	"Germline"	""	""	"0"	""	""	"g.165992329A>T"	""	"likely pathogenic"	""
"0000370587"	"21"	"75"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"00753"	"SCN1A_000004"	"g.166872146G>C"	""	"{PMID:Gargus 2007:18021921}"	""	""	"amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166015636G>C"	""	"likely pathogenic"	""
"0000370588"	"0"	"75"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"00753"	"SCN1A_000004"	"g.166872146G>C"	""	"{PMID:Gargus 2007:18021921}"	""	""	"amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166015636G>C"	""	"likely pathogenic"	""
"0000370589"	"11"	"33"	"2"	"166848003"	"166848003"	"subst"	"0.0013324"	"00753"	"SCN1A_000003"	"g.166848003G>C"	""	"{PMID:de Vries 2007:18056581}"	""	""	"not in 300 chromosomes; DNA variant c.5782C>G in the SCNA1A gene was present in five additional family members, two of whom had non-hemiplegic migraine and three unaffected. p.Arg1914Gly (which is equivalent to SCN1A-Arg1928Gly) was introduced to highly homologous human SCN5A (SCN5A-Arg1914Gly) and functionally tested.; in vitro expression study performed"	"Germline"	""	"rs121917956"	"0"	""	""	"g.165991493G>C"	""	"likely benign"	""
"0000370590"	"10"	"77"	"2"	"166908406"	"166908406"	"subst"	"0"	"00753"	"SCN1A_000005"	"g.166908406G>C"	""	"{PMID:Castro 2008:19220312}"	""	""	"not in 300 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166051896G>C"	""	"likely pathogenic"	""
"0000370591"	"10"	"77"	"2"	"166908406"	"166908406"	"subst"	"0"	"00753"	"SCN1A_000005"	"g.166908406G>C"	""	"{PMID:Castro 2008:19220312}"	""	""	"not in 300 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166051896G>C"	""	"likely pathogenic"	""
"0000370592"	"10"	"77"	"2"	"166908406"	"166908406"	"subst"	"0"	"00753"	"SCN1A_000005"	"g.166908406G>C"	""	"{PMID:Castro 2008:19220312}"	""	""	"not in 300 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166051896G>C"	""	"likely pathogenic"	""
"0000370593"	"21"	"77"	"2"	"166908406"	"166908406"	"subst"	"0"	"00753"	"SCN1A_000005"	"g.166908406G>C"	""	"{PMID:Castro 2008:19220312}"	""	""	"not in 300 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166051896G>C"	""	"likely pathogenic"	""
"0000370594"	"11"	"77"	"2"	"166908406"	"166908406"	"subst"	"0"	"00753"	"SCN1A_000005"	"g.166908406G>C"	""	"{PMID:Castro 2008:19220312}"	""	""	"not in 300 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.166051896G>C"	""	"likely pathogenic"	""
"0000370595"	"10"	"77"	"2"	"166852609"	"166852609"	"subst"	"0"	"00753"	"SCN1A_000006"	"g.166852609A>G"	""	"{PMID:Vahedi 2009:19332696}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165996099A>G"	""	"likely pathogenic"	""
"0000370596"	"21"	"77"	"2"	"166852609"	"166852609"	"subst"	"0"	"00753"	"SCN1A_000006"	"g.166852609A>G"	""	"{PMID:Vahedi 2009:19332696}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165996099A>G"	""	"likely pathogenic"	""
"0000370597"	"21"	"77"	"2"	"166852609"	"166852609"	"subst"	"0"	"00753"	"SCN1A_000006"	"g.166852609A>G"	""	"{PMID:Vahedi 2009:19332696}"	""	""	"not in 360 chromosomes; amino acid conserved; no expression study performed"	"Germline"	""	""	"0"	""	""	"g.165996099A>G"	""	"likely pathogenic"	""
"0000400777"	"0"	"90"	"2"	"166848437"	"166848437"	"subst"	"0"	"02552"	"SCN1A_000124"	"g.166848437G>A"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.165991927G>A"	""	"pathogenic (dominant)"	""
"0000400778"	"0"	"90"	"2"	"166850754"	"166850754"	"del"	"0"	"02552"	"SCN1A_000317"	"g.166850754del"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.165994244del"	""	"pathogenic (dominant)"	""
"0000400779"	"0"	"90"	"2"	"166904165"	"166904165"	"del"	"0"	"02552"	"SCN1A_000318"	"g.166904165del"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166047655del"	""	"pathogenic (dominant)"	""
"0000404695"	"0"	"70"	"2"	"166911144"	"166911147"	"del"	"0"	"00006"	"SCN1A_000319"	"g.166911144_166911147del"	""	"{PMID:Tumienė 2018:29286531}"	""	"602+3_602+6delAAGT"	""	"De novo"	""	""	"0"	""	""	"g.166054634_166054637del"	""	"likely pathogenic"	"ACMG"
"0000405984"	"11"	"50"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"02552"	"SCN1A_000113"	"g.166901590C>T"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"Germline"	""	"rs121918817"	"0"	""	""	"g.166045080C>T"	""	"VUS"	""
"0000438835"	"0"	"50"	"2"	"166908504"	"166908511"	"del"	"0"	"01164"	"SCN1A_000320"	"g.166908504_166908511del"	""	""	""	""	"parents not yet tested for de novo status / MaxEntScan and SSF imply complete loss of SA site. Not tested on cDNA."	"Germline"	""	""	"0"	""	""	"g.166051994_166052001del"	""	"VUS"	"ACMG"
"0000439118"	"0"	"70"	"2"	"166903366"	"166903366"	"subst"	"0"	"01164"	"SCN1A_000321"	"g.166903366G>A"	""	""	""	""	"ACMG grading: PVS1,PM2"	"Germline"	""	""	"0"	""	""	"g.166046856G>A"	""	"likely pathogenic"	"ACMG"
"0000439889"	"0"	"50"	"2"	"166848165"	"166848165"	"subst"	"0"	"01164"	"SCN1A_000120"	"g.166848165G>A"	""	""	""	""	"ACMG grading: PP3,PM2; Dravet syndrome, GEFS+"	"Germline"	""	"rs796053043"	"0"	""	""	"g.165991655G>A"	""	"VUS"	"ACMG"
"0000440025"	"0"	"70"	"2"	"166892815"	"166892818"	"del"	"0"	"01164"	"SCN1A_000322"	"g.166892815_166892818del"	""	""	""	""	"ACMG grading: PVS1,PM2; GEFS+"	"Germline"	""	""	"0"	""	""	"g.166036305_166036308del"	""	"likely pathogenic"	"ACMG"
"0000442732"	"0"	"70"	"2"	"166904255"	"166904255"	"subst"	"0"	"01164"	"SCN1A_000330"	"g.166904255C>A"	""	""	""	""	"ACMG grading: PM5,PP3,PM2,PM6; reported in Zuberi (2011) Neurology 76, 594"	"Germline"	""	""	"0"	""	""	"g.166047745C>A"	""	"likely pathogenic"	"ACMG"
"0000443399"	"11"	"90"	"2"	"166864064"	"166864064"	"subst"	"0"	"00006"	"SCN1A_000323"	"g.166864064G>A"	""	"{PMID:Carvill 2018:30526861}"	""	""	"increased inclusion poison exon 20N"	"Germline"	"yes"	""	"0"	""	""	"g.166007554G>A"	""	"pathogenic (dominant)"	""
"0000443400"	"0"	"90"	"2"	"166864061"	"166864065"	"del"	"0"	"00006"	"SCN1A_000324"	"g.166864061_166864065del"	""	"{PMID:Carvill 2018:30526861}"	""	"4002+2168_4002+2172delGTCCA"	"increased inclusion poison exon 20N, suggested reduced SRSF1 binding"	"De novo"	""	""	"0"	""	""	"g.166007551_166007555del"	""	"pathogenic (dominant)"	""
"0000443401"	"0"	"90"	"2"	"166863778"	"166863778"	"subst"	"0"	"00006"	"SCN1A_000325"	"g.166863778C>G"	""	"{PMID:Carvill 2018:30526861}"	""	""	"increased inclusion poison exon 20N, suggested reduced SRSF1 binding"	"De novo"	""	""	"0"	""	""	"g.166007268C>G"	""	"pathogenic (dominant)"	""
"0000443402"	"0"	"70"	"2"	"166863774"	"166863774"	"subst"	"0"	"00006"	"SCN1A_000326"	"g.166863774C>T"	""	"{PMID:Carvill 2018:30526861}"	""	""	"predicted increased inclusion poison exon 20N"	"De novo"	""	""	"0"	""	""	"g.166007264C>T"	""	"likely pathogenic"	""
"0000443403"	"21"	"70"	"2"	"166863726"	"166863726"	"subst"	"0"	"00006"	"SCN1A_000327"	"g.166863726G>A"	""	"{PMID:Carvill 2018:30526861}"	""	""	"predicted increased inclusion poison exon 20N"	"Germline"	"yes"	""	"0"	""	""	"g.166007216G>A"	""	"likely pathogenic"	""
"0000443404"	"0"	"70"	"2"	"166947125"	"167039020"	"del"	"0"	"00006"	"SCN1A_000328"	"g.(166000000_166947125)_(167039020_167100000)del"	""	"{PMID:Carvill 2018:30526861}"	""	""	"variant not maternal"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000443405"	"0"	"70"	"2"	"166934979"	"167042321"	"del"	"0"	"00006"	"SCN1A_000329"	"g.(166900000_166934979)_(167042321_167100000)del"	""	"{PMID:Carvill 2018:30526861}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000487442"	"0"	"70"	"2"	"166854547"	"166872238"	"del"	"0"	"03250"	"SCN1A_000331"	"g.(166852628_166854547)_(166872238_166892557)del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000509895"	"0"	"30"	"2"	"166847583"	"166847583"	"dup"	"0"	"02326"	"SCN1A_000332"	"g.166847583dup"	""	""	""	"SCN1A(NM_001165963.3):c.*172dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991073dup"	""	"likely benign"	""
"0000509896"	"0"	"90"	"2"	"166848051"	"166848051"	"subst"	"4.07209E-6"	"02325"	"SCN1A_000106"	"g.166848051G>A"	""	""	""	"SCN1A(NM_001202435.3):c.5734C>T (p.R1912*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991541G>A"	""	"pathogenic"	""
"0000509897"	"0"	"90"	"2"	"166848425"	"166848425"	"del"	"0"	"02327"	"SCN1A_000333"	"g.166848425del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991915del"	""	"pathogenic"	""
"0000509898"	"0"	"50"	"2"	"166848712"	"166848712"	"subst"	"0"	"02327"	"SCN1A_000334"	"g.166848712G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165992202G>T"	""	"VUS"	""
"0000509899"	"0"	"50"	"2"	"166848795"	"166848795"	"subst"	"0"	"02327"	"SCN1A_000335"	"g.166848795T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165992285T>G"	""	"VUS"	""
"0000509900"	"0"	"70"	"2"	"166848878"	"166848878"	"subst"	"0"	"02327"	"SCN1A_000336"	"g.166848878C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165992368C>T"	""	"likely pathogenic"	""
"0000509901"	"0"	"50"	"2"	"166850781"	"166850781"	"subst"	"0"	"01943"	"SCN1A_000337"	"g.166850781A>G"	""	""	""	"SCN1A(NM_001202435.2):c.4727T>C (p.I1576T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165994271A>G"	""	"VUS"	""
"0000509902"	"0"	"50"	"2"	"166850838"	"166850838"	"subst"	"0"	"02327"	"SCN1A_000338"	"g.166850838G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165994328G>A"	""	"VUS"	""
"0000509903"	"0"	"30"	"2"	"166851036"	"166851036"	"subst"	"0"	"02326"	"SCN1A_000339"	"g.166851036G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4582-110C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165994526G>A"	""	"likely benign"	""
"0000509904"	"0"	"30"	"2"	"166852399"	"166852399"	"subst"	"0"	"02326"	"SCN1A_000340"	"g.166852399G>C"	""	""	""	"SCN1A(NM_001165963.3):c.4581+124C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165995889G>C"	""	"likely benign"	""
"0000509905"	"0"	"10"	"2"	"166854515"	"166854515"	"subst"	"0.0108526"	"02326"	"SCN1A_000341"	"g.166854515C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4476+33G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165998005C>T"	""	"benign"	""
"0000509906"	"0"	"90"	"2"	"166854624"	"166854624"	"subst"	"0"	"02326"	"SCN1A_000342"	"g.166854624A>T"	""	""	""	"SCN1A(NM_001165963.3):c.4400T>A (p.I1467N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165998114A>T"	""	"pathogenic"	""
"0000509907"	"0"	"50"	"2"	"166854673"	"166854673"	"subst"	"0"	"02327"	"SCN1A_000343"	"g.166854673G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165998163G>A"	""	"VUS"	""
"0000509908"	"0"	"10"	"2"	"166854781"	"166854781"	"dup"	"0"	"02326"	"SCN1A_000344"	"g.166854781dup"	""	""	""	"SCN1A(NM_001165963.3):c.4339-96dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165998271dup"	""	"benign"	""
"0000509909"	"0"	"50"	"2"	"166859020"	"166859020"	"subst"	"0"	"02325"	"SCN1A_000345"	"g.166859020C>T"	""	""	""	"SCN1A(NM_001165963.4):c.4246G>A (p.D1416N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166002510C>T"	""	"VUS"	""
"0000509910"	"0"	"90"	"2"	"166859098"	"166859098"	"subst"	"0"	"02325"	"SCN1A_000346"	"g.166859098C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4168G>A (p.V1390M), SCN1A(NM_001202435.3):c.4168G>A (p.V1390M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166002588C>T"	""	"pathogenic"	""
"0000509911"	"0"	"90"	"2"	"166859098"	"166859098"	"subst"	"0"	"02326"	"SCN1A_000346"	"g.166859098C>T"	""	""	""	"SCN1A(NM_001165963.3):c.4168G>A (p.V1390M), SCN1A(NM_001202435.3):c.4168G>A (p.V1390M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166002588C>T"	""	"pathogenic"	""
"0000509912"	"0"	"70"	"2"	"166859170"	"166859170"	"subst"	"2.04053E-5"	"02325"	"SCN1A_000347"	"g.166859170C>T"	""	""	""	"SCN1A(NM_001165963.4):c.4096G>A (p.V1366I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166002660C>T"	""	"likely pathogenic"	""
"0000509913"	"0"	"50"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"02325"	"SCN1A_000004"	"g.166872146G>C"	""	""	""	"SCN1A(NM_001165963.1):c.3521C>G (p.(Thr1174Ser)), SCN1A(NM_001165963.2):c.3521C>G (p.T1174S), SCN1A(NM_001165963.3):c.3521C>G (p.T1174S), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166015636G>C"	""	"VUS"	""
"0000509914"	"0"	"30"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"02326"	"SCN1A_000004"	"g.166872146G>C"	""	""	""	"SCN1A(NM_001165963.1):c.3521C>G (p.(Thr1174Ser)), SCN1A(NM_001165963.2):c.3521C>G (p.T1174S), SCN1A(NM_001165963.3):c.3521C>G (p.T1174S), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166015636G>C"	""	"likely benign"	""
"0000509915"	"0"	"30"	"2"	"166872186"	"166872186"	"subst"	"0.000386446"	"02326"	"SCN1A_000112"	"g.166872186C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3481G>A (p.(Ala1161Thr)), SCN1A(NM_001165963.2):c.3481G>A (p.A1161T), SCN1A(NM_001165963.3):c.3481G>A (p.A1161T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166015676C>T"	""	"likely benign"	""
"0000509916"	"0"	"30"	"2"	"166892444"	"166892444"	"dup"	"0"	"02326"	"SCN1A_000348"	"g.166892444dup"	""	""	""	"SCN1A(NM_001165963.3):c.3429+114dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166035934dup"	""	"likely benign"	""
"0000509917"	"0"	"50"	"2"	"166892637"	"166892637"	"subst"	"0"	"02325"	"SCN1A_000349"	"g.166892637A>G"	""	""	""	"SCN1A(NM_001202435.3):c.3350T>C (p.I1117T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166036127A>G"	""	"VUS"	""
"0000509918"	"0"	"90"	"2"	"166892692"	"166892692"	"subst"	"0"	"02327"	"SCN1A_000350"	"g.166892692C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166036182C>A"	""	"pathogenic"	""
"0000509919"	"0"	"90"	"2"	"166893031"	"166893032"	"del"	"0"	"02327"	"SCN1A_000351"	"g.166893031_166893032del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166036521_166036522del"	""	"pathogenic"	""
"0000509920"	"0"	"90"	"2"	"166894288"	"166894288"	"subst"	"0"	"02326"	"SCN1A_000352"	"g.166894288C>G"	""	""	""	"SCN1A(NM_001165963.3):c.2944G>C (p.V982L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166037778C>G"	""	"pathogenic"	""
"0000509921"	"0"	"90"	"2"	"166894396"	"166894396"	"subst"	"0"	"02327"	"SCN1A_000353"	"g.166894396G>A"	""	""	""	"SCN1A(NM_001202435.3):c.2836C>T (p.R946C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166037886G>A"	""	"pathogenic"	""
"0000509922"	"0"	"90"	"2"	"166894396"	"166894396"	"subst"	"0"	"02325"	"SCN1A_000353"	"g.166894396G>A"	""	""	""	"SCN1A(NM_001202435.3):c.2836C>T (p.R946C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166037886G>A"	""	"pathogenic"	""
"0000509923"	"0"	"90"	"2"	"166894436"	"166894436"	"subst"	"0"	"02327"	"SCN1A_000354"	"g.166894436C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166037926C>T"	""	"pathogenic"	""
"0000509924"	"0"	"10"	"2"	"166894462"	"166894462"	"subst"	"0.000109658"	"02326"	"SCN1A_000355"	"g.166894462C>T"	""	""	""	"SCN1A(NM_001165963.3):c.2770G>A (p.A924T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166037952C>T"	""	"benign"	""
"0000509925"	"0"	"90"	"2"	"166894608"	"166894608"	"subst"	"0"	"02327"	"SCN1A_000356"	"g.166894608G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166038098G>A"	""	"pathogenic"	""
"0000509926"	"0"	"10"	"2"	"166895929"	"166895930"	"del"	"0"	"02326"	"SCN1A_000198"	"g.166895929_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+18_2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+18_2589+19delAA, SCN1A(NM_001202435.3):c.2589+18_2589+19delAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166039419_166039420del"	""	"benign"	""
"0000509927"	"0"	"90"	"2"	"166895930"	"166895930"	"subst"	"0"	"02326"	"SCN1A_000357"	"g.166895930T>G"	""	""	""	"SCN1A(NM_001165963.3):c.2589+3A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166039420T>G"	""	"pathogenic"	""
"0000509928"	"0"	"90"	"2"	"166897778"	"166897778"	"subst"	"6.91057E-5"	"02327"	"SCN1A_000358"	"g.166897778G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041268G>A"	""	"pathogenic"	""
"0000509929"	"0"	"50"	"2"	"166897916"	"166897916"	"subst"	"8.12638E-6"	"02327"	"SCN1A_000359"	"g.166897916A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041406A>G"	""	"VUS"	""
"0000509931"	"0"	"50"	"2"	"166897981"	"166897981"	"subst"	"0"	"01804"	"SCN1A_000361"	"g.166897981T>A"	""	""	""	"SCN1A(NM_001165963.1):c.2177-2A>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041471T>A"	""	"VUS"	""
"0000509932"	"0"	"30"	"2"	"166897986"	"166897986"	"subst"	"0"	"01804"	"SCN1A_000362"	"g.166897986T>A"	""	""	""	"SCN1A(NM_001165963.1):c.2177-7A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041476T>A"	""	"likely benign"	""
"0000509933"	"0"	"30"	"2"	"166898003"	"166898003"	"dup"	"0"	"02325"	"SCN1A_000208"	"g.166898003dup"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11dup (p.(=)), SCN1A(NM_001165963.3):c.2177-11dupT, SCN1A(NM_001202435.2):c.2177-11dupT, SCN1A(NM_001202435.3):c.2177-..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041493dup"	""	"likely benign"	""
"0000509934"	"0"	"30"	"2"	"166900312"	"166900312"	"subst"	"4.06398E-6"	"01943"	"SCN1A_000222"	"g.166900312G>A"	""	""	""	"SCN1A(NM_001165963.3):c.1910C>T (p.A637V), SCN1A(NM_001202435.2):c.1910C>T (p.A637V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166043802G>A"	""	"likely benign"	""
"0000509935"	"0"	"30"	"2"	"166900411"	"166900411"	"subst"	"0.001479"	"01943"	"SCN1A_000226"	"g.166900411C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1811G>A (p.(Arg604His)), SCN1A(NM_001165963.3):c.1811G>A (p.R604H), SCN1A(NM_001202435.2):c.1811G>A (p.R604H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166043901C>T"	""	"likely benign"	""
"0000509936"	"0"	"30"	"2"	"166900425"	"166900425"	"subst"	"3.65717E-5"	"02326"	"SCN1A_000363"	"g.166900425C>T"	""	""	""	"SCN1A(NM_001165963.3):c.1797G>A (p.E599=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166043915C>T"	""	"likely benign"	""
"0000509937"	"0"	"10"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"01943"	"SCN1A_000113"	"g.166901590C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1625G>A (p.(Arg542Gln)), SCN1A(NM_001165963.3):c.1625G>A (p.R542Q), SCN1A(NM_001202435.2):c.1625G>A (p.R542Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045080C>T"	""	"benign"	""
"0000509938"	"0"	"30"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"02326"	"SCN1A_000113"	"g.166901590C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1625G>A (p.(Arg542Gln)), SCN1A(NM_001165963.3):c.1625G>A (p.R542Q), SCN1A(NM_001202435.2):c.1625G>A (p.R542Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045080C>T"	""	"likely benign"	""
"0000509939"	"0"	"90"	"2"	"166901591"	"166901591"	"subst"	"0"	"02325"	"SCN1A_000364"	"g.166901591G>A"	""	""	""	"SCN1A(NM_001165963.4):c.1624C>T (p.R542*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045081G>A"	""	"pathogenic"	""
"0000509940"	"0"	"30"	"2"	"166901612"	"166901612"	"subst"	"2.43791E-5"	"01804"	"SCN1A_000365"	"g.166901612G>A"	""	""	""	"SCN1A(NM_001165963.1):c.1603C>T (p.(Arg535Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045102G>A"	""	"likely benign"	""
"0000509941"	"0"	"90"	"2"	"166903423"	"166903423"	"subst"	"0"	"02326"	"SCN1A_000366"	"g.166903423A>G"	""	""	""	"SCN1A(NM_001165963.3):c.1234T>C (p.F412L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166046913A>G"	""	"pathogenic"	""
"0000509942"	"0"	"70"	"2"	"166903440"	"166903440"	"subst"	"0"	"02326"	"SCN1A_000367"	"g.166903440A>G"	""	""	""	"SCN1A(NM_001202435.3):c.1217T>C (p.V406A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166046930A>G"	""	"likely pathogenic"	""
"0000509945"	"0"	"90"	"2"	"166904174"	"166904174"	"subst"	"0"	"02326"	"SCN1A_000369"	"g.166904174A>G"	""	""	""	"SCN1A(NM_001165963.3):c.1133T>C (p.L378P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166047664A>G"	""	"pathogenic"	""
"0000509946"	"0"	"90"	"2"	"166904177"	"166904177"	"subst"	"0"	"02327"	"SCN1A_000370"	"g.166904177C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166047667C>G"	""	"pathogenic"	""
"0000509947"	"0"	"90"	"2"	"166904178"	"166904178"	"subst"	"0"	"02325"	"SCN1A_000299"	"g.166904178G>A"	""	""	""	"SCN1A(NM_001202435.3):c.1129C>T (p.R377*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166047668G>A"	""	"pathogenic"	""
"0000509948"	"0"	"10"	"2"	"166905480"	"166905480"	"subst"	"0.707113"	"02325"	"SCN1A_000371"	"g.166905480G>A"	""	""	""	"SCN1A(NM_001202435.3):c.965-21C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166048970G>A"	""	"benign"	""
"0000509949"	"0"	"30"	"2"	"166908188"	"166908188"	"subst"	"0.00472885"	"02326"	"SCN1A_000009"	"g.166908188A>T"	""	""	""	"SCN1A(NM_001165963.3):c.964+41T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166051678A>T"	""	"likely benign"	""
"0000509950"	"0"	"50"	"2"	"166908288"	"166908288"	"subst"	"0"	"02327"	"SCN1A_000372"	"g.166908288C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166051778C>A"	""	"VUS"	""
"0000509951"	"0"	"50"	"2"	"166908381"	"166908381"	"subst"	"0"	"02325"	"SCN1A_000373"	"g.166908381C>T"	""	""	""	"SCN1A(NM_001165963.4):c.812G>A (p.G271D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166051871C>T"	""	"VUS"	""
"0000509952"	"0"	"10"	"2"	"166909129"	"166909130"	"ins"	"0"	"02326"	"SCN1A_000374"	"g.166909129_166909130insT"	""	""	""	"SCN1A(NM_001165963.3):c.694+232_694+233insA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166052619_166052620insT"	""	"benign"	""
"0000509953"	"0"	"70"	"2"	"166909357"	"166909357"	"subst"	"0"	"02327"	"SCN1A_000375"	"g.166909357C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166052847C>G"	""	"likely pathogenic"	""
"0000509954"	"0"	"90"	"2"	"166909392"	"166909392"	"subst"	"0"	"01943"	"SCN1A_000018"	"g.166909392G>A"	""	""	""	"SCN1A(NM_001165963.4):c.664C>T (p.R222*), SCN1A(NM_001202435.2):c.664C>T (p.R222*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166052882G>A"	""	"pathogenic"	""
"0000509955"	"0"	"30"	"2"	"166911142"	"166911143"	"dup"	"0"	"02326"	"SCN1A_000019"	"g.166911142_166911143dup"	""	""	""	"SCN1A(NM_001165963.1):c.602+6_602+7dupTG (p.?), SCN1A(NM_001165963.3):c.602+6_602+7dupTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166054632_166054633dup"	""	"likely benign"	""
"0000509956"	"0"	"90"	"2"	"166911257"	"166911257"	"subst"	"0"	"02326"	"SCN1A_000376"	"g.166911257A>G"	""	""	""	"SCN1A(NM_001165963.3):c.493T>C (p.Y165H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166054747A>G"	""	"pathogenic"	""
"0000509957"	"0"	"30"	"2"	"166911300"	"166911309"	"del"	"0"	"02326"	"SCN1A_000377"	"g.166911300_166911309del"	""	""	""	"SCN1A(NM_001165963.3):c.474-32_474-23delCTTTATCAAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166054790_166054799del"	""	"likely benign"	""
"0000509958"	"0"	"10"	"2"	"166912923"	"166912923"	"subst"	"0"	"02326"	"SCN1A_000378"	"g.166912923T>C"	""	""	""	"SCN1A(NM_001165963.3):c.471A>G (p.V157=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166056413T>C"	""	"benign"	""
"0000509959"	"0"	"50"	"2"	"166915084"	"166915084"	"subst"	"7.33012E-5"	"02327"	"SCN1A_000025"	"g.166915084G>C"	""	""	""	"SCN1A(NM_001165963.4):c.379C>G (p.H127D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166058574G>C"	""	"VUS"	""
"0000509960"	"0"	"50"	"2"	"166915084"	"166915084"	"subst"	"7.33012E-5"	"02325"	"SCN1A_000025"	"g.166915084G>C"	""	""	""	"SCN1A(NM_001165963.4):c.379C>G (p.H127D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166058574G>C"	""	"VUS"	""
"0000509961"	"0"	"50"	"2"	"166930067"	"166930067"	"subst"	"0"	"02325"	"SCN1A_000379"	"g.166930067A>G"	""	""	""	"SCN1A(NM_001202435.3):c.65T>C (p.L22P), SCN1A(NM_006920.4):c.65T>C (p.L22P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166073557A>G"	""	"VUS"	""
"0000509962"	"0"	"70"	"2"	"166930067"	"166930067"	"subst"	"0"	"02326"	"SCN1A_000379"	"g.166930067A>G"	""	""	""	"SCN1A(NM_001202435.3):c.65T>C (p.L22P), SCN1A(NM_006920.4):c.65T>C (p.L22P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166073557A>G"	""	"likely pathogenic"	""
"0000509963"	"0"	"50"	"2"	"166930100"	"166930100"	"subst"	"8.12453E-6"	"02327"	"SCN1A_000380"	"g.166930100G>T"	""	""	""	"SCN1A(NM_001165963.3):c.32C>A (p.P11H), SCN1A(NM_001165963.4):c.32C>A (p.(Pro11His)), SCN1A(NM_001202435.3):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166073590G>T"	""	"VUS"	""
"0000509964"	"0"	"50"	"2"	"166930100"	"166930100"	"subst"	"8.12453E-6"	"02325"	"SCN1A_000380"	"g.166930100G>T"	""	""	""	"SCN1A(NM_001165963.3):c.32C>A (p.P11H), SCN1A(NM_001165963.4):c.32C>A (p.(Pro11His)), SCN1A(NM_001202435.3):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166073590G>T"	""	"VUS"	""
"0000509965"	"0"	"30"	"2"	"166930100"	"166930100"	"subst"	"8.12453E-6"	"02326"	"SCN1A_000380"	"g.166930100G>T"	""	""	""	"SCN1A(NM_001165963.3):c.32C>A (p.P11H), SCN1A(NM_001165963.4):c.32C>A (p.(Pro11His)), SCN1A(NM_001202435.3):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166073590G>T"	""	"likely benign"	""
"0000604475"	"0"	"70"	"2"	"166894441"	"166894441"	"subst"	"0"	"03512"	"SCN1A_000194"	"g.166894441G>A"	""	"{PMID:Minardi 2020:32725632}"	""	"Arg920Cys"	""	"Unknown"	""	""	"0"	""	""	"g.166037931G>A"	"{CV:000068598}"	"pathogenic"	""
"0000606216"	"0"	"50"	"2"	"166847915"	"166847915"	"subst"	"0.000130333"	"01943"	"SCN1A_000382"	"g.166847915T>C"	""	""	""	"SCN1A(NM_001165963.2):c.5870A>G (p.E1957G), SCN1A(NM_001165963.4):c.5870A>G (p.E1957G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991405T>C"	""	"VUS"	""
"0000606217"	"0"	"70"	"2"	"166847996"	"166847996"	"del"	"0"	"02327"	"SCN1A_000383"	"g.166847996del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991486del"	""	"likely pathogenic"	""
"0000606218"	"0"	"50"	"2"	"166848598"	"166848598"	"subst"	"4.0657E-6"	"01943"	"SCN1A_000384"	"g.166848598C>A"	""	""	""	"SCN1A(NM_001202435.2):c.5187G>T (p.L1729F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165992088C>A"	""	"VUS"	""
"0000606219"	"0"	"30"	"2"	"166852553"	"166852553"	"subst"	"0.000456022"	"01943"	"SCN1A_000145"	"g.166852553T>C"	""	""	""	"SCN1A(NM_001165963.2):c.4551A>G (p.K1517=), SCN1A(NM_001165963.3):c.4551A>G (p.K1517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165996043T>C"	""	"likely benign"	""
"0000606220"	"0"	"30"	"2"	"166872187"	"166872187"	"subst"	"4.88154E-5"	"01943"	"SCN1A_000386"	"g.166872187G>A"	""	""	""	"SCN1A(NM_001165963.2):c.3480C>T (p.G1160=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166015677G>A"	""	"likely benign"	""
"0000606221"	"0"	"90"	"2"	"166895930"	"166895930"	"subst"	"0"	"02325"	"SCN1A_000200"	"g.166895930T>A"	""	""	""	"SCN1A(NM_001165963.3):c.2589+3A>T, SCN1A(NM_001165963.4):c.2589+3A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166039420T>A"	""	"pathogenic"	""
"0000606222"	"0"	"30"	"2"	"166897787"	"166897787"	"subst"	"2.0324E-5"	"01804"	"SCN1A_000387"	"g.166897787T>A"	""	""	""	"SCN1A(NM_001165963.1):c.2369A>T (p.(Tyr790Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041277T>A"	""	"likely benign"	""
"0000606223"	"0"	"90"	"2"	"166897801"	"166897801"	"del"	"0"	"02325"	"SCN1A_000388"	"g.166897801del"	""	""	""	"SCN1A(NM_001165963.4):c.2356delG (p.A786Pfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041291del"	""	"pathogenic"	""
"0000606224"	"0"	"50"	"2"	"166897980"	"166897980"	"subst"	"0"	"01804"	"SCN1A_000389"	"g.166897980C>T"	""	""	""	"SCN1A(NM_001165963.1):c.2177-1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041470C>T"	""	"VUS"	""
"0000606225"	"0"	"30"	"2"	"166897985"	"166897986"	"ins"	"0"	"01804"	"SCN1A_000390"	"g.166897985_166897986insA"	""	""	""	"SCN1A(NM_001165963.1):c.2177-7_2177-6insT (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166041475_166041476insA"	""	"likely benign"	""
"0000606227"	"0"	"70"	"2"	"166911202"	"166911202"	"subst"	"0"	"02325"	"SCN1A_000392"	"g.166911202A>G"	""	""	""	"SCN1A(NM_001165963.4):c.548T>C (p.F183S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166054692A>G"	""	"likely pathogenic"	""
"0000606228"	"0"	"90"	"2"	"166915195"	"166915195"	"subst"	"0"	"02327"	"SCN1A_000393"	"g.166915195A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166058685A>G"	""	"pathogenic"	""
"0000620761"	"0"	"30"	"2"	"166848898"	"166848898"	"subst"	"0.00011787"	"02326"	"SCN1A_000134"	"g.166848898G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4887C>T (p.F1629=), SCN1A(NM_001202435.3):c.4887C>T (p.F1629=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165992388G>A"	""	"likely benign"	""
"0000620762"	"0"	"50"	"2"	"166850715"	"166850715"	"subst"	"8.16747E-6"	"01943"	"SCN1A_000385"	"g.166850715T>A"	""	""	""	"SCN1A(NM_001165963.2):c.4793A>T (p.Y1598F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165994205T>A"	""	"VUS"	""
"0000620763"	"0"	"30"	"2"	"166901840"	"166901840"	"subst"	"0.000301674"	"02326"	"SCN1A_000232"	"g.166901840A>G"	""	""	""	"SCN1A(NM_001165963.3):c.1378-3T>C, SCN1A(NM_001202435.3):c.1378-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045330A>G"	""	"likely benign"	""
"0000624902"	"0"	"90"	"2"	"166898844"	"166898844"	"subst"	"0"	"01807"	"SCN1A_000296"	"g.166898844G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.166042334G>A"	""	"pathogenic"	""
"0000630871"	"0"	"50"	"2"	"166895933"	"166895933"	"subst"	"0"	"01164"	"SCN1A_000394"	"g.166895933C>T"	""	""	""	""	"ACMG: PM2,PP3"	"Germline"	""	""	"0"	""	""	"g.166039423C>T"	""	"VUS"	"ACMG"
"0000644168"	"0"	"50"	"2"	"166905453"	"166905453"	"subst"	"0"	"01164"	"SCN1A_000396"	"g.166905453T>C"	""	""	""	""	"ACMG: PM1,PM2,PP2; Gonsales et al. 2019. Front Neurol 10: 289"	"Germline"	""	"rs796053093"	"0"	""	""	"g.166048943T>C"	""	"VUS"	"ACMG"
"0000645317"	"0"	"90"	"2"	"166892781"	"166894616"	"delins"	"0"	"00006"	"SCN1A_000395"	"g.166892781_166894616delinsTTTTGCCAACTT"	""	"{PMID:Lee 2019:31607746}"	""	"NM_001165963.2:c.2616_3206delinsAAGTTGGCAAAA"	""	"De novo"	""	""	"0"	""	""	"g.166036271_166038106delinsTTTTGCCAACTT"	"{CV:000993584.1}"	"pathogenic (dominant)"	""
"0000647272"	"0"	"50"	"2"	"166847908"	"166847908"	"subst"	"2.03696E-5"	"01164"	"SCN1A_000397"	"g.166847908C>A"	""	""	""	""	""	"Germline"	""	"rs763997333"	"0"	""	""	"g.165991398C>A"	""	"VUS"	"ACMG"
"0000650173"	"1"	"70"	"2"	"166848032"	"166848032"	"subst"	"0"	"03575"	"SCN1A_000398"	"g.166848032G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs796053048}"	"Germline"	""	"rs796053048"	"0"	""	""	"g.165991522G>A"	""	"likely pathogenic"	""
"0000650174"	"1"	"50"	"2"	"166848104"	"166848104"	"subst"	"6.51981E-5"	"03575"	"SCN1A_000399"	"g.166848104A>G"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs562208324}"	"Germline"	""	"rs562208324"	"0"	""	""	"g.165991594A>G"	""	"VUS"	""
"0000650175"	"1"	"90"	"2"	"166850722"	"166850722"	"subst"	"0"	"03575"	"SCN1A_000083"	"g.166850722G>A"	"2/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs121917993}"	"Germline"	""	"rs121917993"	"0"	""	""	"g.165994212G>A"	""	"pathogenic"	""
"0000650176"	"1"	"70"	"2"	"166850834"	"166850834"	"subst"	"0"	"03575"	"SCN1A_000400"	"g.166850834C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs796053023}"	"Germline"	""	"rs796053023"	"0"	""	""	"g.165994324C>T"	""	"likely pathogenic"	""
"0000650177"	"1"	"90"	"2"	"166859178"	"166859178"	"subst"	"0"	"03575"	"SCN1A_000401"	"g.166859178A>T"	"1/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726707}"	"Germline"	""	"rs794726707"	"0"	""	""	"g.166002668A>T"	""	"pathogenic"	""
"0000650178"	"1"	"90"	"2"	"166859222"	"166859222"	"subst"	"0"	"03575"	"SCN1A_000402"	"g.166859222C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726822}"	"Germline"	""	"rs794726822"	"0"	""	""	"g.166002712C>T"	""	"pathogenic"	""
"0000650179"	"1"	"70"	"2"	"166868648"	"166868648"	"subst"	"0"	"03575"	"SCN1A_000403"	"g.166868648A>G"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs796053001}"	"Germline"	""	"rs796053001"	"0"	""	""	"g.166012138A>G"	""	"likely pathogenic"	""
"0000650180"	"1"	"90"	"2"	"166868741"	"166868741"	"subst"	"0"	"03575"	"SCN1A_000405"	"g.166868741C>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726817}"	"Germline"	""	"rs794726817"	"0"	""	""	"g.166012231C>A"	""	"pathogenic"	""
"0000650181"	"1"	"90"	"2"	"166872212"	"166872212"	"subst"	"0"	"03575"	"SCN1A_000406"	"g.166872212G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726728}"	"Germline"	""	"rs794726728"	"0"	""	""	"g.166015702G>T"	""	"pathogenic"	""
"0000650182"	"1"	"90"	"2"	"166892681"	"166892681"	"subst"	"0"	"03575"	"SCN1A_000407"	"g.166892681G>T"	"49/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"49 heterozygous, no homozygous; {DB:CLININrs863225032}"	"Germline"	""	"rs863225032"	"0"	""	""	"g.166036171G>T"	""	"pathogenic"	""
"0000650183"	"1"	"90"	"2"	"166894329"	"166894329"	"subst"	"0"	"03575"	"SCN1A_000408"	"g.166894329C>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726823}"	"Germline"	""	"rs794726823"	"0"	""	""	"g.166037819C>A"	""	"pathogenic"	""
"0000650184"	"1"	"90"	"2"	"166894355"	"166894355"	"subst"	"0"	"03575"	"SCN1A_000409"	"g.166894355A>T"	"2/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs775214722.1}"	"Germline"	""	"rs775214722"	"0"	""	""	"g.166037845A>T"	""	"pathogenic"	""
"0000650185"	"1"	"90"	"2"	"166894395"	"166894395"	"subst"	"0"	"03575"	"SCN1A_000061"	"g.166894395C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs121917971}"	"Germline"	""	"rs121917971"	"0"	""	""	"g.166037885C>T"	""	"pathogenic"	""
"0000650186"	"1"	"90"	"2"	"166895999"	"166896000"	"del"	"0"	"03575"	"SCN1A_000410"	"g.166895999_166896000del"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726738}"	"Germline"	""	"rs794726738"	"0"	""	""	"g.166039489_166039490del"	""	"pathogenic"	""
"0000650187"	"1"	"90"	"2"	"166897980"	"166897980"	"subst"	"0"	"03575"	"SCN1A_000411"	"g.166897980C>A"	"1/2788 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs763400390.1}"	"Germline"	""	"rs763400390"	"0"	""	""	"g.166041470C>A"	""	"pathogenic"	""
"0000650188"	"1"	"90"	"2"	"166908416"	"166908416"	"subst"	"0"	"03575"	"SCN1A_000412"	"g.166908416G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121918735}"	"Germline"	""	"rs121918735"	"0"	""	""	"g.166051906G>T"	""	"pathogenic"	""
"0000650189"	"1"	"70"	"2"	"166909392"	"166909392"	"subst"	"0"	"03575"	"SCN1A_000018"	"g.166909392G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121918624}"	"Germline"	""	"rs121918624"	"0"	""	""	"g.166052882G>A"	""	"likely pathogenic"	""
"0000650190"	"1"	"90"	"2"	"166913011"	"166913011"	"subst"	"0"	"03575"	"SCN1A_000413"	"g.166913011G>C"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726764}"	"Germline"	""	"rs794726764"	"0"	""	""	"g.166056501G>C"	""	"pathogenic"	""
"0000650191"	"1"	"50"	"2"	"166915084"	"166915084"	"subst"	"7.33012E-5"	"03575"	"SCN1A_000025"	"g.166915084G>C"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs148442069}"	"Germline"	""	"rs148442069"	"0"	""	""	"g.166058574G>C"	""	"VUS"	""
"0000650192"	"1"	"90"	"2"	"166930050"	"166930050"	"subst"	"3.25066E-5"	"03575"	"SCN1A_000414"	"g.166930050G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs754032480}"	"Germline"	""	"rs754032480"	"0"	""	""	"g.166073540G>A"	""	"pathogenic"	""
"0000653030"	"1"	"90"	"2"	"166894396"	"166894396"	"subst"	"0"	"03575"	"SCN1A_000353"	"g.166894396G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs121918775}"	"Germline"	""	"rs121918775"	"0"	""	""	"g.166037886G>A"	""	"pathogenic"	""
"0000653149"	"1"	"90"	"2"	"166868677"	"166868677"	"subst"	"0"	"03575"	"SCN1A_000404"	"g.166868677T>G"	"1/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794726852}"	"Germline"	""	"rs794726852"	"0"	""	""	"g.166012167T>G"	""	"pathogenic"	""
"0000653414"	"0"	"70"	"2"	"166912975"	"166912975"	"subst"	"0"	"01164"	"SCN1A_000415"	"g.166912975G>C"	""	""	""	""	"Ishii et al. 2017. Epilepsia 58: 282"	"Germline"	""	""	"0"	""	""	"g.166056465G>C"	""	"likely pathogenic"	"ACMG"
"0000654244"	"0"	"30"	"2"	"166847915"	"166847915"	"subst"	"0.000130333"	"02325"	"SCN1A_000382"	"g.166847915T>C"	""	""	""	"SCN1A(NM_001165963.2):c.5870A>G (p.E1957G), SCN1A(NM_001165963.4):c.5870A>G (p.E1957G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.165991405T>C"	""	"likely benign"	""
"0000654246"	"0"	"10"	"2"	"166901805"	"166901805"	"subst"	"0.000378421"	"02327"	"SCN1A_000416"	"g.166901805G>A"	""	""	""	"SCN1A(NM_001165963.1):c.1410C>T (p.(Ser470=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.166045295G>A"	""	"benign"	""
"0000659721"	"0"	"50"	"2"	"166850880"	"166850880"	"subst"	"2.04162E-5"	"01164"	"SCN1A_000419"	"g.166850880A>G"	""	""	""	""	"father carries this variant and had seizures in childhood; Harkin et al. 2007. Brain 130: 843; Kim et al. 2014. Dev 56: 85"	"Germline"	""	"rs121917992"	"0"	""	""	"g.165994370A>G"	""	"VUS"	"ACMG"
"0000659791"	"0"	"70"	"2"	"166850706"	"166850706"	"dup"	"0"	"01164"	"SCN1A_000418"	"g.166850706dup"	""	""	""	""	"ACMG grading: PVS1,PM2"	"Germline"	""	""	"0"	""	""	"g.165994196dup"	""	"likely pathogenic"	"ACMG"
"0000659794"	"0"	"50"	"2"	"166847903"	"166847903"	"subst"	"4.07359E-6"	"01164"	"SCN1A_000417"	"g.166847903A>G"	""	""	""	""	"ACMG grading: PM2,PP2"	"Germline"	""	"rs760676898"	"0"	""	""	"g.165991393A>G"	""	"VUS"	"ACMG"
"0000660246"	"0"	"50"	"2"	"166868779"	"166868779"	"subst"	"1.64958E-5"	"01164"	"SCN1A_000420"	"g.166868779A>G"	""	""	""	""	""	"Germline"	""	"rs776629634"	"0"	""	""	"g.166012269A>G"	""	"VUS"	""
"0000660441"	"0"	"70"	"2"	"166859181"	"166859181"	"subst"	"0"	"01164"	"SCN1A_000040"	"g.166859181C>G"	""	""	""	""	"ACMG grading: PM1,PM2,PM5,PP1,PP3"	"Germline"	""	""	"0"	""	""	"g.166002671C>G"	""	"likely pathogenic"	"ACMG"
"0000665612"	"0"	"50"	"2"	"166210846"	"166210846"	"subst"	"0"	"03512"	"SCN2A_000235"	"g.166210846C>T"	""	"{PMID:Minardi 2020:32725632}"	""	""	"brother wt"	"Germline"	""	""	"0"	""	""	"g.165354336C>T"	""	"VUS"	""
"0000665614"	"0"	"50"	"2"	"166915084"	"166915084"	"subst"	"7.33012E-5"	"03512"	"SCN1A_000025"	"g.166915084G>C"	""	"{PMID:Minardi 2020:32725632}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058574G>C"	""	"VUS"	""
"0000665796"	"0"	"50"	"2"	"166868784"	"166868784"	"subst"	"4.54771E-5"	"01164"	"SCN1A_000421"	"g.166868784T>G"	""	""	""	""	""	"Germline"	""	"rs121917973"	"0"	""	""	"g.166012274T>G"	""	"VUS"	""
"0000665813"	"0"	"70"	"2"	"166903294"	"166903294"	"subst"	"0"	"01164"	"SCN1A_000422"	"g.166903294G>A"	""	""	""	""	"ACMG grading: PVS1,PM2\r\nInfant epilepsy with focal seizures of varying localization, age-related statomotor development, family history negative"	"Germline"	""	""	"0"	""	""	"g.166046784G>A"	""	"likely pathogenic"	"ACMG"
"0000667570"	"0"	"90"	"2"	"166859253"	"166859253"	"subst"	"0"	"00006"	"SCN1A_000430"	"g.166859253T>G"	""	"{PMID:Helbig 2016:26795593}"	""	"NM_001165963:4013A>C  (N1338T)"	""	"De novo"	""	""	"0"	""	""	"g.166002743T>G"	""	"pathogenic (dominant)"	"ACMG"
"0000667572"	"0"	"90"	"2"	"166852583"	"166852583"	"subst"	"0"	"00006"	"SCN1A_000427"	"g.166852583G>C"	""	"{PMID:Helbig 2016:26795593}"	""	"NM_001165963:4521C>G  (Y1507*)"	""	"De novo"	""	""	"0"	""	""	"g.165996073G>C"	""	"pathogenic (dominant)"	"ACMG"
"0000667664"	"0"	"90"	"2"	"166850672"	"166850672"	"del"	"0"	"00006"	"SCN1A_000426"	"g.166850672del"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.4836delC (Ile1613Phefs*5)"	""	"De novo"	""	""	"0"	""	""	"g.165994162del"	""	"pathogenic (dominant)"	""
"0000667665"	"1"	"90"	"2"	"166847823"	"166847823"	"subst"	"4.07262E-6"	"00006"	"SCN1A_000423"	"g.166847823G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.5962G>A (Arg1988Trp)"	""	"Germline"	""	""	"0"	""	""	"g.165991313G>A"	""	"pathogenic (dominant)"	""
"0000667666"	"0"	"90"	"2"	"166859233"	"166859233"	"subst"	"0"	"00006"	"SCN1A_000429"	"g.166859233G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.4033G>A (Pro1345Ser)"	""	"De novo"	""	""	"0"	""	""	"g.166002723G>A"	""	"pathogenic (dominant)"	""
"0000667667"	"11"	"90"	"2"	"166929999"	"166929999"	"subst"	"8.12348E-6"	"00006"	"SCN1A_000438"	"g.166929999C>T"	""	"{PMID:Carvill 2013:23708187}"	""	"c.133C>T"	""	"Germline"	""	""	"0"	""	""	"g.166073489C>T"	""	"pathogenic (dominant)"	""
"0000667668"	"0"	"90"	"2"	"166866254"	"166866254"	"subst"	"0"	"00006"	"SCN1A_000431"	"g.166866254G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.3977G>A (Ala1326Val)"	""	"De novo"	""	""	"0"	""	""	"g.166009744G>A"	""	"pathogenic (dominant)"	""
"0000667669"	"1"	"90"	"2"	"166904231"	"166904231"	"subst"	"0"	"00006"	"SCN1A_000435"	"g.166904231T>G"	""	"{PMID:Carvill 2013:23708187}"	""	"c.1076T>G"	""	"Germline"	""	""	"0"	""	""	"g.166047721T>G"	""	"pathogenic (dominant)"	""
"0000667670"	"0"	"70"	"2"	"166903453"	"166903453"	"del"	"0"	"00006"	"SCN1A_000434"	"g.166903453del"	""	"{PMID:Carvill 2013:23708187}"	""	"c.1209delA"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166046943del"	""	"likely pathogenic (dominant)"	""
"0000667671"	"0"	"90"	"2"	"166854571"	"166854571"	"subst"	"0"	"00006"	"SCN1A_000428"	"g.166854571T>C"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.4453T>C (Asn1485Asp)"	""	"De novo"	""	""	"0"	""	""	"g.165998061T>C"	""	"pathogenic (dominant)"	""
"0000667707"	"0"	"50"	"2"	"166929953"	"166929953"	"subst"	"0"	"00006"	"SCN1A_000437"	"g.166929953T>C"	""	"{PMID:Carvill 2013:23708187}"	""	"c.179T>C"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166073443T>C"	""	"VUS"	""
"0000667708"	"0"	"50"	"2"	"166848590"	"166848590"	"subst"	"0"	"00006"	"SCN1A_000425"	"g.166848590G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.519G>A (PRO1732LEU)"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.165992080G>A"	""	"VUS"	""
"0000667709"	"0"	"50"	"2"	"166894315"	"166894315"	"subst"	"0"	"00006"	"SCN1A_000432"	"g.166894315T>C"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1:c.291T>C (MET973VAL)"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166037805T>C"	""	"VUS"	""
"0000667710"	"0"	"50"	"2"	"166909406"	"166909406"	"subst"	"0"	"00006"	"SCN1A_000436"	"g.166909406G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"c.650G>A (Thr217Ile)"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166052896G>A"	""	"VUS"	""
"0000667711"	"0"	"50"	"2"	"166848407"	"166848407"	"subst"	"0"	"00006"	"SCN1A_000424"	"g.166848407G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"NM_001165963.1 :c.5378C>T (Thr1793Ile)"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.165991897G>A"	""	"VUS"	""
"0000667712"	"0"	"50"	"2"	"166900370"	"166900370"	"subst"	"4.06309E-6"	"00006"	"SCN1A_000433"	"g.166900370G>A"	""	"{PMID:Carvill 2013:23708187}"	""	"c.1852G>A"	"parents unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166043860G>A"	""	"VUS"	""
"0000673637"	"11"	"30"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"00006"	"SCN1A_000111"	"g.166866307T>A"	""	"{PMID:Marcogliese 2018:30057031}"	""	""	"father unaffected"	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000673688"	"0"	"70"	"2"	"166908244"	"166908244"	"subst"	"0"	"00006"	"SCN1A_000447"	"g.166908244A>G"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PP2, PP3, PP4; mother deceased"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166051734A>G"	""	"likely pathogenic"	"ACMG"
"0000673689"	"0"	"70"	"2"	"166904178"	"166904178"	"subst"	"0"	"00006"	"SCN1A_000299"	"g.166904178G>A"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PSV1, PM2"	"De novo"	""	""	"0"	""	""	"g.166047668G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673690"	"0"	"90"	"2"	"166930065"	"166930065"	"dup"	"0"	"00006"	"SCN1A_000452"	"g.166930065dup"	""	"{PMID:Johannesen 2020:32427350}"	""	"67dupG"	"ACMG PVS1, PS1, PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166073555dup"	""	"pathogenic"	"ACMG"
"0000673691"	"0"	"70"	"2"	"166872225"	"166872228"	"delins"	"0"	"00006"	"SCN1A_000444"	"g.166872225_166872228delinsAAGCA"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PVS1, PM2"	"De novo"	""	""	"0"	""	""	"g.166015715_166015718delinsAAGCA"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673692"	"0"	"70"	"2"	"166870396"	"166870402"	"del"	"0"	"00006"	"SCN1A_000443"	"g.166870396_166870402del"	""	"{PMID:Johannesen 2020:32427350}"	""	"3557_3563delTACAAAG"	"ACMG PVS1, PP3, PP4"	"De novo"	""	""	"0"	""	""	"g.166013886_166013892del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673693"	"0"	"90"	"2"	"166870348"	"166870348"	"subst"	"0"	"00006"	"SCN1A_000442"	"g.166870348C>T"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PVS1, PS1, PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166013838C>T"	""	"pathogenic"	"ACMG"
"0000673694"	"0"	"70"	"2"	"166894596"	"166894596"	"subst"	"0"	"00006"	"SCN1A_000439"	"g.166894596A>G"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	""	"ACMG PM1, PM2, PP2, PP3; somatic variant 0.31 in blood"	"Somatic"	""	""	"0"	""	""	"g.166038086A>G"	""	"likely pathogenic"	"ACMG"
"0000673695"	"0"	"70"	"2"	"166894408"	"166894408"	"subst"	"0"	"00006"	"SCN1A_000446"	"g.166894408G>C"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:27781031}"	""	""	"ACMG PM2, PM5, PP2, PP3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166037898G>C"	""	"likely pathogenic"	"ACMG"
"0000673696"	"0"	"70"	"2"	"166909431"	"166909431"	"dup"	"0"	"00006"	"SCN1A_000448"	"g.166909431dup"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	"625dupC"	"ACMG PVS1, PM2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166052921dup"	""	"likely pathogenic"	"ACMG"
"0000673697"	"0"	"70"	"2"	"166911220"	"166911220"	"subst"	"0"	"00006"	"SCN1A_000449"	"g.166911220C>T"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PM5, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.166054710C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673698"	"0"	"90"	"2"	"166892893"	"166892893"	"subst"	"0"	"00006"	"SCN1A_000445"	"g.166892893C>A"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Moller 2016:30661434}"	""	""	"ACMG PVS1, PS1; PM2,"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166036383C>A"	""	"pathogenic"	"ACMG"
"0000673699"	"0"	"90"	"2"	"166912920"	"166912920"	"subst"	"0"	"00006"	"SCN1A_000450"	"g.166912920C>T"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PVS1, PS1, PM2,"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166056410C>T"	""	"pathogenic"	"ACMG"
"0000673700"	"0"	"90"	"2"	"166848491"	"166848491"	"subst"	"0"	"00006"	"SCN1A_000440"	"g.166848491A>G"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PM5, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.165991981A>G"	""	"pathogenic (dominant)"	"ACMG"
"0000673701"	"0"	"70"	"2"	"166848516"	"166848516"	"subst"	"0"	"00006"	"SCN1A_000441"	"g.166848516C>T"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PS1, PM2, PM5, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.165992006C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673702"	"0"	"70"	"2"	"166911147"	"166911147"	"subst"	"0"	"00006"	"SCN1A_000263"	"g.166911147C>G"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PVS1, (PS2) PM2"	"De novo"	""	""	"0"	""	""	"g.166054637C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000673703"	"0"	"50"	"2"	"166930077"	"166930079"	"del"	"0"	"00006"	"SCN1A_000453"	"g.166930077_166930079del"	""	"{PMID:Johannesen 2020:32427350}, {PMID:Djémié 2016:27465585}"	""	"53_55delCCA"	"ACMG PM2, PM4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166073567_166073569del"	""	"VUS"	"ACMG"
"0000673704"	"0"	"70"	"2"	"166929939"	"166929939"	"subst"	"0"	"00006"	"SCN1A_000451"	"g.166929939A>C"	""	"{PMID:Johannesen 2020:32427350}"	""	""	"ACMG PM2, PM6, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.166073429A>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000676079"	"0"	"90"	"2"	"166848251"	"166848254"	"del"	"0"	"02327"	"SCN1A_000454"	"g.166848251_166848254del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676080"	"0"	"70"	"2"	"166894638"	"166894638"	"subst"	"0"	"02327"	"SCN1A_000455"	"g.166894638C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676081"	"0"	"50"	"2"	"166901603"	"166901603"	"subst"	"0"	"01804"	"SCN1A_000456"	"g.166901603T>C"	""	""	""	"SCN1A(NM_006920.4):c.1612A>G (p.(Ile538Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676082"	"0"	"90"	"2"	"166901697"	"166901698"	"del"	"0"	"02325"	"SCN1A_000457"	"g.166901697_166901698del"	""	""	""	"SCN1A(NM_001165963.4):c.1518_1519delGA (p.K507Rfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676083"	"0"	"70"	"2"	"166903399"	"166903399"	"subst"	"0"	"01804"	"SCN1A_000458"	"g.166903399C>G"	""	""	""	"SCN1A(NM_006920.4):c.1258G>C (p.(Ala420Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676084"	"0"	"30"	"2"	"166911255"	"166911255"	"subst"	"0"	"02325"	"SCN1A_000267"	"g.166911255A>G"	""	""	""	"SCN1A(NM_001165963.4):c.495T>C (p.Y165=), SCN1A(NM_001202435.2):c.495T>C (p.Y165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676085"	"0"	"30"	"2"	"166930052"	"166930052"	"subst"	"9.34488E-5"	"01943"	"SCN1A_000459"	"g.166930052C>G"	""	""	""	"SCN1A(NM_001165963.2):c.80G>C (p.R27T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000683574"	"0"	"70"	"2"	"166912957"	"166912957"	"subst"	"0"	"00006"	"SCN1A_000460"	"g.166912957G>T"	""	"{PMID:Anazi 2017:28940097}"	""	""	"ACMG PS2,PM1,PM2,PP3"	"De novo"	""	""	"0"	""	""	"g.166056447G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000701800"	"0"	"70"	"2"	"166848171"	"166848171"	"subst"	"0"	"01164"	"SCN1A_000461"	"g.166848171T>C"	""	""	""	""	"ACMG: PM1_sup, PM2, PP2, PP3 class 3"	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000701834"	"3"	"50"	"2"	"166848284"	"166848284"	"subst"	"8.14226E-6"	"00006"	"SCN1A_000462"	"g.166848284G>A"	""	"{PMID:Riazuddin 2017:27457812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165991774G>A"	""	"VUS"	""
"0000703989"	"0"	"70"	"2"	"166852609"	"166852609"	"subst"	"0"	"01164"	"SCN1A_000006"	"g.166852609A>G"	""	"Vahedi et al.; 2009. Neurology 13: 1178; Domitrz et al.; 2016. Hum Genomics 8: 10:"	""	""	"ACMG: PM1, PM2, PP1, PP2, PP3 class 4"	"Germline"	"?"	""	""	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000710198"	"0"	"90"	"2"	"166915101"	"166915101"	"del"	"0"	"00006"	"SCN1A_000464"	"g.166915101del"	""	"{PMID:Hong 2020:33333793}"	""	"322delC"	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.166058591del"	""	"pathogenic"	""
"0000710199"	"0"	"90"	"2"	"166866228"	"166866228"	"del"	"0"	"00006"	"SCN1A_000463"	"g.166866228del"	""	"{PMID:Hong 2020:33333793}"	""	"NM_001165963:3918+1G>-"	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000711519"	"0"	"70"	"2"	"166848677"	"166848677"	"subst"	"0"	"01741"	"SCN1A_000465"	"g.166848677T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000717945"	"0"	"50"	"2"	"166847905"	"166847907"	"del"	"0"	"02329"	"SCN1A_000466"	"g.166847905_166847907del"	""	""	""	"SCN1A(NM_001165963.3):c.5880_5882delAAT (p.I1961del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717946"	"0"	"90"	"2"	"166852531"	"166852531"	"subst"	"0"	"02329"	"SCN1A_000029"	"g.166852531G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4573C>T (p.R1525*), SCN1A(NM_001165963.4):c.4573C>T (p.R1525*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000717947"	"0"	"30"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"01943"	"SCN1A_000004"	"g.166872146G>C"	""	""	""	"SCN1A(NM_001165963.1):c.3521C>G (p.(Thr1174Ser)), SCN1A(NM_001165963.2):c.3521C>G (p.T1174S), SCN1A(NM_001165963.3):c.3521C>G (p.T1174S), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717948"	"0"	"30"	"2"	"166872186"	"166872186"	"subst"	"0.000386446"	"01943"	"SCN1A_000112"	"g.166872186C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3481G>A (p.(Ala1161Thr)), SCN1A(NM_001165963.2):c.3481G>A (p.A1161T), SCN1A(NM_001165963.3):c.3481G>A (p.A1161T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717949"	"0"	"50"	"2"	"166900543"	"166900543"	"subst"	"8.14166E-6"	"02329"	"SCN1A_000227"	"g.166900543C>T"	""	""	""	"SCN1A(NM_001165963.3):c.1679G>A (p.R560H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717950"	"0"	"50"	"2"	"166903456"	"166903456"	"subst"	"0"	"02329"	"SCN1A_000368"	"g.166903456T>C"	""	""	""	"SCN1A(NM_001202435.3):c.1201A>G (p.I401V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717951"	"0"	"90"	"2"	"166903479"	"166903479"	"subst"	"0"	"02329"	"SCN1A_000298"	"g.166903479C>T"	""	""	""	"SCN1A(NM_001202435.3):c.1178G>A (p.R393H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000717952"	"0"	"30"	"2"	"166904176"	"166904176"	"subst"	"0.00166819"	"01943"	"SCN1A_000313"	"g.166904176T>G"	""	""	""	"SCN1A(NM_001165963.2):c.1131A>C (p.R377=), SCN1A(NM_001165963.3):c.1131A>C (p.R377=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717953"	"0"	"50"	"2"	"166911226"	"166911226"	"subst"	"0"	"02327"	"SCN1A_000467"	"g.166911226G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000763818"	"1"	"50"	"2"	"166894429"	"166894429"	"subst"	"0"	"00006"	"SCN1A_000469"	"g.166894429T>A"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"2803A>T (Asn935Tyr)"	"ACMG PM1, PM2, BP4"	"Germline"	""	""	"0"	""	""	"g.166037919T>A"	""	"VUS"	"ACMG"
"0000763829"	"1"	"50"	"2"	"166859087"	"166859087"	"subst"	"0"	"00006"	"SCN1A_000468"	"g.166859087A>T"	""	"{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}"	""	"4179T>A (His1393Gln)"	"ACMG PM1, PM2, BP4"	"Germline"	""	""	"0"	""	""	"g.166002577A>T"	""	"VUS"	"ACMG"
"0000787005"	"0"	"70"	"2"	"166915199"	"166915199"	"subst"	"0"	"00006"	"SCN1A_000485"	"g.166915199C>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058689C>A"	""	"likely pathogenic"	""
"0000787006"	"0"	"90"	"2"	"166915161"	"166915161"	"subst"	"0"	"00006"	"SCN1A_000098"	"g.166915161C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058651C>T"	""	"pathogenic"	""
"0000787007"	"0"	"90"	"2"	"166911147"	"166911147"	"subst"	"0"	"00006"	"SCN1A_000020"	"g.166911147C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166054637C>T"	""	"pathogenic"	""
"0000787008"	"0"	"90"	"2"	"166911147"	"166911147"	"subst"	"0"	"00006"	"SCN1A_000020"	"g.166911147C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166054637C>T"	""	"pathogenic"	""
"0000787009"	"0"	"90"	"2"	"166908238"	"166908238"	"subst"	"0"	"00006"	"SCN1A_000482"	"g.166908238G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051728G>A"	""	"pathogenic"	""
"0000787010"	"0"	"70"	"2"	"166908227"	"166908227"	"subst"	"0"	"00006"	"SCN1A_000480"	"g.166908227A>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166051717A>C"	""	"likely pathogenic"	""
"0000787011"	"0"	"90"	"2"	"166903374"	"166903374"	"del"	"0"	"00006"	"SCN1A_000477"	"g.166903374del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166046864del"	""	"pathogenic"	""
"0000787012"	"0"	"90"	"2"	"166895930"	"166895930"	"subst"	"0"	"00006"	"SCN1A_000200"	"g.166895930T>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166039420T>A"	""	"pathogenic"	""
"0000787013"	"0"	"90"	"2"	"166895930"	"166895930"	"subst"	"0"	"00006"	"SCN1A_000200"	"g.166895930T>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166039420T>A"	""	"pathogenic"	""
"0000787014"	"0"	"70"	"2"	"166894608"	"166894608"	"subst"	"0"	"00006"	"SCN1A_000476"	"g.166894608G>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166038098G>T"	""	"likely pathogenic"	""
"0000787015"	"0"	"90"	"2"	"166868765"	"166868765"	"subst"	"0"	"00006"	"SCN1A_000046"	"g.166868765G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166012255G>A"	""	"pathogenic"	""
"0000787016"	"0"	"90"	"2"	"166859017"	"166859017"	"del"	"0"	"00006"	"SCN1A_000474"	"g.166859017del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166002507del"	""	"pathogenic"	""
"0000787017"	"0"	"90"	"2"	"166856232"	"166856232"	"subst"	"0"	"00006"	"SCN1A_000473"	"g.166856232C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165999722C>T"	""	"pathogenic"	""
"0000787018"	"0"	"90"	"2"	"166848933"	"166848933"	"subst"	"0"	"00006"	"SCN1A_000471"	"g.166848933C>G"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992423C>G"	""	"pathogenic"	""
"0000787019"	"0"	"90"	"2"	"166848843"	"166848843"	"subst"	"0"	"00006"	"SCN1A_000081"	"g.166848843G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992333G>A"	""	"pathogenic"	""
"0000787107"	"0"	"70"	"2"	"166908229"	"166915198"	"del"	"0"	"00006"	"SCN1A_000481"	"g.(?_166908229)_(166915198_?)del"	""	"{PMID:Ganapathy 2019:31069529}"	""	"chr2:166908229-?_166915198+?del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000787169"	"0"	"50"	"2"	"166904162"	"166904162"	"subst"	"0"	"00006"	"SCN1A_000479"	"g.166904162T>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047652T>C"	""	"VUS"	""
"0000787170"	"0"	"50"	"2"	"166893015"	"166893015"	"subst"	"0"	"00006"	"SCN1A_000475"	"g.166893015A>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166036505A>C"	""	"VUS"	""
"0000787171"	"0"	"50"	"2"	"166854685"	"166854685"	"subst"	"0"	"00006"	"SCN1A_000472"	"g.166854685C>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165998175C>A"	""	"VUS"	""
"0000787376"	"0"	"50"	"2"	"166915144"	"166915147"	"delins"	"0"	"00006"	"SCN1A_000484"	"g.166915144_166915147delinsG"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166058634_166058637delinsG"	""	"VUS"	""
"0000787377"	"0"	"50"	"2"	"166904132"	"166904132"	"subst"	"0"	"00006"	"SCN1A_000478"	"g.166904132C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166047622C>T"	""	"VUS"	""
"0000787378"	"0"	"50"	"2"	"166893015"	"166893015"	"subst"	"0"	"00006"	"SCN1A_000475"	"g.166893015A>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.166036505A>C"	""	"VUS"	""
"0000787379"	"0"	"50"	"2"	"166870321"	"166870321"	"subst"	"2.03625E-5"	"00006"	"SCN1A_000288"	"g.166870321C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs566081370"	"0"	""	""	"g.166013811C>T"	"{CV-RCV:0006600699.1}"	"VUS"	""
"0000787380"	"0"	"50"	"2"	"166848755"	"166848755"	"subst"	"0"	"00006"	"SCN1A_000470"	"g.166848755A>G"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.165992245A>G"	""	"VUS"	""
"0000787549"	"0"	"50"	"2"	"166908447"	"166908447"	"subst"	"1.22384E-5"	"00000"	"SCN1A_000483"	"g.166908447T>C"	""	"0"	""	""	""	"Germline"	""	"rs762927460"	"0"	""	""	"g.166051937T>C"	""	"VUS"	""
"0000799771"	"0"	"50"	"2"	"166848165"	"166848165"	"subst"	"0"	"02327"	"SCN1A_000120"	"g.166848165G>A"	""	""	""	"SCN1A(NM_001165963.3):c.5620C>T (p.R1874W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799772"	"0"	"50"	"2"	"166848930"	"166848930"	"subst"	"0.000513171"	"01943"	"SCN1A_000486"	"g.166848930T>C"	""	""	""	"SCN1A(NM_001165963.1):c.4855A>G (p.(Met1619Val)), SCN1A(NM_001165963.2):c.4855A>G (p.M1619V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799773"	"0"	"70"	"2"	"166852518"	"166852518"	"subst"	"0"	"02327"	"SCN1A_000487"	"g.166852518C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000799774"	"0"	"90"	"2"	"166859242"	"166859242"	"subst"	"0"	"01943"	"SCN1A_000488"	"g.166859242C>A"	""	""	""	"SCN1A(NM_001165963.2):c.4024G>T (p.G1342*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000799775"	"0"	"30"	"2"	"166859267"	"166859267"	"subst"	"0"	"01943"	"SCN1A_000489"	"g.166859267A>G"	""	""	""	"SCN1A(NM_001165963.2):c.4003-4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799776"	"0"	"30"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"01943"	"SCN1A_000111"	"g.166866307T>A"	""	""	""	"SCN1A(NM_001165963.1):c.3924A>T (p.(Glu1308Asp)), SCN1A(NM_001165963.2):c.3924A>T (p.E1308D), SCN1A(NM_001165963.3):c.3924A>T (p.E1308D), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799777"	"0"	"50"	"2"	"166892836"	"166892836"	"subst"	"8.19323E-6"	"01943"	"SCN1A_000490"	"g.166892836G>A"	""	""	""	"SCN1A(NM_001165963.2):c.3151C>T (p.L1051F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799778"	"0"	"70"	"2"	"166895930"	"166895930"	"subst"	"0"	"02327"	"SCN1A_000200"	"g.166895930T>A"	""	""	""	"SCN1A(NM_001165963.3):c.2589+3A>T, SCN1A(NM_001165963.4):c.2589+3A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000799779"	"0"	"50"	"2"	"166903297"	"166903297"	"subst"	"8.14352E-6"	"01943"	"SCN1A_000491"	"g.166903297G>T"	""	""	""	"SCN1A(NM_001165963.2):c.1360C>A (p.Q454K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799780"	"0"	"30"	"2"	"166909352"	"166909352"	"subst"	"0.000102255"	"01943"	"SCN1A_000256"	"g.166909352T>C"	""	""	""	"SCN1A(NM_001165963.2):c.694+10A>G, SCN1A(NM_001165963.3):c.694+10A>G, SCN1A(NM_001165963.4):c.694+10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799781"	"0"	"50"	"2"	"166915177"	"166915177"	"subst"	"0"	"01943"	"SCN1A_000492"	"g.166915177C>G"	""	""	""	"SCN1A(NM_001165963.2):c.286G>C (p.G96R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799782"	"0"	"30"	"2"	"166930064"	"166930064"	"subst"	"0.000357514"	"02325"	"SCN1A_000274"	"g.166930064G>A"	""	""	""	"SCN1A(NM_001165963.3):c.68C>T (p.A23V), SCN1A(NM_001165963.4):c.68C>T (p.A23V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815856"	"0"	"70"	"2"	"166848878"	"166848878"	"subst"	"0"	"00006"	"SCN1A_000336"	"g.166848878C>T"	""	"{PMID:Nair 2018:30293248}"	""	""	""	"Germline/De novo (untested)"	""	"rs121917995"	"0"	""	""	"g.165992368C>T"	""	"likely pathogenic"	""
"0000815857"	"0"	"70"	"2"	"166894639"	"166894639"	"subst"	"0"	"00006"	"SCN1A_000195"	"g.166894639G>A"	""	"{PMID:Nair 2018:30293248}"	""	""	""	"Germline/De novo (untested)"	""	"rs794726697"	"0"	""	""	"g.166038129G>A"	""	"likely pathogenic"	""
"0000818622"	"0"	"90"	"2"	"166894553"	"166894553"	"subst"	"0"	"00006"	"SCN1A_000493"	"g.166894553T>G"	""	"{PMID:Jaber 2021:32928894}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166038043T>G"	""	"pathogenic (dominant)"	""
"0000818623"	"0"	"90"	"2"	"166893022"	"166893022"	"subst"	"0"	"00006"	"SCN1A_000494"	"g.166893022C>T"	""	"{PMID:Jaber 2021:32928894}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166036512C>T"	""	"pathogenic (dominant)"	""
"0000818624"	"0"	"90"	"2"	"166908486"	"166908486"	"subst"	"0"	"00006"	"SCN1A_000495"	"g.166908486A>G"	""	"{PMID:Jaber 2021:32928894}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166051976A>G"	""	"pathogenic (dominant)"	""
"0000823712"	"0"	"50"	"2"	"166904157"	"166904157"	"subst"	"0"	"02494"	"SCN1A_000097"	"g.166904157A>C"	""	""	""	""	""	"De novo"	""	""	""	""	""	""	""	"VUS"	""
"0000828438"	"0"	"50"	"2"	"166852541"	"166852541"	"subst"	"0"	"01164"	"SCN1A_000496"	"g.166852541C>G"	""	""	""	""	"ACMG: PM2_SUP, PP2, PP3"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000837166"	"0"	"70"	"2"	"166898844"	"166898844"	"subst"	"0"	"02494"	"SCN1A_000296"	"g.166898844G>A"	""	""	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic (dominant)"	""
"0000841175"	"0"	"90"	"2"	"166898844"	"166898844"	"subst"	"0"	"00006"	"SCN1A_000296"	"g.166898844G>A"	""	"{PMID:Froukh 2020:32056211}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166042334G>A"	""	"pathogenic (dominant)"	""
"0000849026"	"0"	"70"	"2"	"166848782"	"166848782"	"subst"	"0"	"02327"	"SCN1A_000498"	"g.166848782G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000849027"	"0"	"30"	"2"	"166850777"	"166850777"	"subst"	"0.00132452"	"01943"	"SCN1A_000086"	"g.166850777A>G"	""	""	""	"SCN1A(NM_001165963.1):c.4731T>C (p.(Asn1577=)), SCN1A(NM_001165963.2):c.4731T>C (p.N1577=), SCN1A(NM_001165963.3):c.4731T>C (p.N1577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849028"	"0"	"50"	"2"	"166852563"	"166852563"	"subst"	"0"	"02327"	"SCN1A_000499"	"g.166852563A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000849029"	"0"	"10"	"2"	"166898003"	"166898003"	"del"	"0"	"02325"	"SCN1A_000210"	"g.166898003del"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11delT (p.(=)), SCN1A(NM_001165963.3):c.2177-11delT, SCN1A(NM_001202435.3):c.2177-11delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000849030"	"0"	"50"	"2"	"166901563"	"166901563"	"subst"	"0"	"01943"	"SCN1A_000502"	"g.166901563G>A"	""	""	""	"SCN1A(NM_001165963.2):c.1652C>T (p.S551F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857821"	"0"	"50"	"2"	"166848180"	"166848180"	"subst"	"0"	"01804"	"SCN1A_000497"	"g.166848180A>G"	""	""	""	"SCN1A(NM_001165963.1):c.5605T>C (p.(Phe1858Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857822"	"0"	"30"	"2"	"166848367"	"166848367"	"subst"	"0.0136103"	"01804"	"SCN1A_000100"	"g.166848367C>T"	""	""	""	"SCN1A(NM_001165963.1):c.5418G>A (p.(Glu1806=)), SCN1A(NM_001165963.3):c.5418G>A (p.E1806=), SCN1A(NM_001202435.3):c.5418G>A (p.E1806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857823"	"0"	"50"	"2"	"166852557"	"166852557"	"subst"	"2.03669E-5"	"02329"	"SCN1A_000284"	"g.166852557G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4547C>T (p.S1516L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857824"	"0"	"30"	"2"	"166859171"	"166859171"	"subst"	"1.22454E-5"	"01943"	"SCN1A_000500"	"g.166859171G>A"	""	""	""	"SCN1A(NM_001165963.2):c.4095C>T (p.G1365=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857825"	"0"	"30"	"2"	"166868775"	"166868775"	"subst"	"0.00884715"	"01804"	"SCN1A_000168"	"g.166868775A>G"	""	""	""	"SCN1A(NM_001165963.1):c.3723T>C (p.(Tyr1241=)), SCN1A(NM_001165963.3):c.3723T>C (p.Y1241=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857826"	"0"	"30"	"2"	"166872146"	"166872146"	"subst"	"0.00167944"	"01804"	"SCN1A_000004"	"g.166872146G>C"	""	""	""	"SCN1A(NM_001165963.1):c.3521C>G (p.(Thr1174Ser)), SCN1A(NM_001165963.2):c.3521C>G (p.T1174S), SCN1A(NM_001165963.3):c.3521C>G (p.T1174S), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857827"	"0"	"30"	"2"	"166894343"	"166894343"	"subst"	"0.00301305"	"01804"	"SCN1A_000059"	"g.166894343A>G"	""	""	""	"SCN1A(NM_001165963.1):c.2889T>C (p.(Ala963=)), SCN1A(NM_001165963.3):c.2889T>C (p.A963=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857828"	"0"	"10"	"2"	"166895928"	"166895930"	"del"	"0"	"01804"	"SCN1A_000501"	"g.166895928_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+17_2589+19del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857829"	"0"	"10"	"2"	"166895929"	"166895930"	"del"	"0"	"01804"	"SCN1A_000198"	"g.166895929_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+18_2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+18_2589+19delAA, SCN1A(NM_001202435.3):c.2589+18_2589+19delAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857830"	"0"	"30"	"2"	"166895930"	"166895930"	"del"	"0"	"01804"	"SCN1A_000197"	"g.166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+19delA, SCN1A(NM_001202435.3):c.2589+19delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857831"	"0"	"10"	"2"	"166898003"	"166898003"	"dup"	"0"	"01804"	"SCN1A_000208"	"g.166898003dup"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11dup (p.(=)), SCN1A(NM_001165963.3):c.2177-11dupT, SCN1A(NM_001202435.2):c.2177-11dupT, SCN1A(NM_001202435.3):c.2177-..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857832"	"0"	"30"	"2"	"166898785"	"166898785"	"subst"	"0.00906384"	"01804"	"SCN1A_000212"	"g.166898785T>C"	""	""	""	"SCN1A(NM_001165963.1):c.2176+17A>G (p.(=)), SCN1A(NM_001165963.3):c.2176+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857833"	"0"	"50"	"2"	"166903287"	"166903287"	"subst"	"0"	"02327"	"SCN1A_000503"	"g.166903287G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857834"	"0"	"10"	"2"	"166903498"	"166903499"	"del"	"0"	"01804"	"SCN1A_000240"	"g.166903498_166903499del"	""	""	""	"SCN1A(NM_001165963.1):c.1171-10_1171-9del (p.(=)), SCN1A(NM_001165963.3):c.1171-10_1171-9delTT, SCN1A(NM_001202435.3):c.1171-10_1171-9delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857835"	"0"	"50"	"2"	"166905392"	"166905392"	"subst"	"0"	"02327"	"SCN1A_000504"	"g.166905392T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857836"	"0"	"10"	"2"	"166913030"	"166913030"	"subst"	"0.00628432"	"01804"	"SCN1A_000271"	"g.166913030C>G"	""	""	""	"SCN1A(NM_001165963.1):c.384-20G>C (p.(=)), SCN1A(NM_001165963.3):c.384-20G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000879147"	"21"	"50"	"2"	"166894404"	"166894404"	"subst"	"0"	"01164"	"SCN1A_000505"	"g.166894404A>G"	""	""	""	""	"ACMG: PM1, PM2_SUP, PP2, PP3; trio-exom, inherited from mother; according to referral letter mother \"non-affected\""	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000883853"	"0"	"30"	"2"	"166847921"	"166847921"	"subst"	"0.00188612"	"01804"	"SCN1A_000119"	"g.166847921A>G"	""	""	""	"SCN1A(NM_001165963.1):c.5864T>C (p.(Ile1955Thr)), SCN1A(NM_001202435.3):c.5864T>C (p.I1955T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883854"	"0"	"50"	"2"	"166847993"	"166847993"	"subst"	"0"	"02329"	"SCN1A_000506"	"g.166847993A>G"	""	""	""	"SCN1A(NM_001165963.3):c.5792T>C (p.L1931S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883855"	"0"	"50"	"2"	"166848146"	"166848146"	"subst"	"7.33999E-5"	"02325"	"SCN1A_000507"	"g.166848146C>T"	""	""	""	"SCN1A(NM_001165963.4):c.5639G>A (p.G1880E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883856"	"0"	"50"	"2"	"166848421"	"166848421"	"subst"	"0"	"02329"	"SCN1A_000279"	"g.166848421G>T"	""	""	""	"SCN1A(NM_001165963.1):c.5364C>A (p.(Asn1788Lys)), SCN1A(NM_001165963.3):c.5364C>A (p.N1788K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883857"	"0"	"50"	"2"	"166848544"	"166848544"	"subst"	"0"	"02326"	"SCN1A_000508"	"g.166848544G>T"	""	""	""	"SCN1A(NM_001165963.3):c.5241C>A (p.N1747K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883858"	"0"	"50"	"2"	"166859106"	"166859106"	"subst"	"0"	"02325"	"SCN1A_000509"	"g.166859106A>G"	""	""	""	"SCN1A(NM_001165963.4):c.4160T>C (p.I1387T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883859"	"0"	"30"	"2"	"166866307"	"166866307"	"subst"	"0.000624362"	"01804"	"SCN1A_000111"	"g.166866307T>A"	""	""	""	"SCN1A(NM_001165963.1):c.3924A>T (p.(Glu1308Asp)), SCN1A(NM_001165963.2):c.3924A>T (p.E1308D), SCN1A(NM_001165963.3):c.3924A>T (p.E1308D), SCN1A(NM...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883860"	"0"	"90"	"2"	"166868740"	"166868740"	"dup"	"0"	"02327"	"SCN1A_000510"	"g.166868740dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000883861"	"0"	"50"	"2"	"166870268"	"166870268"	"subst"	"0"	"02329"	"SCN1A_000511"	"g.166870268T>A"	""	""	""	"SCN1A(NM_001165963.3):c.3691A>T (p.S1231C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883862"	"0"	"30"	"2"	"166870375"	"166870375"	"subst"	"3.25661E-5"	"02325"	"SCN1A_000512"	"g.166870375T>C"	""	""	""	"SCN1A(NM_001165963.4):c.3584A>G (p.N1195S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883863"	"0"	"50"	"2"	"166894419"	"166894419"	"subst"	"0"	"02327"	"SCN1A_000513"	"g.166894419A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2813T>A (p.F938Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883864"	"0"	"50"	"2"	"166894419"	"166894419"	"subst"	"0"	"02329"	"SCN1A_000513"	"g.166894419A>T"	""	""	""	"SCN1A(NM_001165963.3):c.2813T>A (p.F938Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883865"	"0"	"30"	"2"	"166894532"	"166894532"	"subst"	"4.06164E-6"	"01804"	"SCN1A_000514"	"g.166894532G>A"	""	""	""	"SCN1A(NM_006920.4):c.2667C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883866"	"0"	"30"	"2"	"166898003"	"166898003"	"del"	"0"	"01804"	"SCN1A_000210"	"g.166898003del"	""	""	""	"SCN1A(NM_001165963.1):c.2177-11delT (p.(=)), SCN1A(NM_001165963.3):c.2177-11delT, SCN1A(NM_001202435.3):c.2177-11delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883868"	"0"	"30"	"2"	"166901590"	"166901590"	"subst"	"0.00167877"	"01804"	"SCN1A_000113"	"g.166901590C>T"	""	""	""	"SCN1A(NM_001165963.1):c.1625G>A (p.(Arg542Gln)), SCN1A(NM_001165963.3):c.1625G>A (p.R542Q), SCN1A(NM_001202435.2):c.1625G>A (p.R542Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883869"	"0"	"30"	"2"	"166901805"	"166901805"	"subst"	"0.000378421"	"01804"	"SCN1A_000416"	"g.166901805G>A"	""	""	""	"SCN1A(NM_001165963.1):c.1410C>T (p.(Ser470=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883870"	"0"	"50"	"2"	"166905397"	"166905397"	"subst"	"0"	"02329"	"SCN1A_000516"	"g.166905397C>T"	""	""	""	"SCN1A(NM_001165963.3):c.1027G>A (p.G343S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883871"	"0"	"70"	"2"	"166912981"	"166912981"	"subst"	"0"	"02329"	"SCN1A_000517"	"g.166912981A>G"	""	""	""	"SCN1A(NM_001165963.4):c.413T>C (p.I138T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000883872"	"0"	"10"	"2"	"166915118"	"166915118"	"subst"	"0.007121"	"01804"	"SCN1A_000026"	"g.166915118A>G"	""	""	""	"SCN1A(NM_001165963.1):c.345T>C (p.(Asn115=)), SCN1A(NM_001165963.3):c.345T>C (p.N115=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000883873"	"0"	"50"	"2"	"166930100"	"166930100"	"subst"	"8.12453E-6"	"02329"	"SCN1A_000380"	"g.166930100G>T"	""	""	""	"SCN1A(NM_001165963.3):c.32C>A (p.P11H), SCN1A(NM_001165963.4):c.32C>A (p.(Pro11His)), SCN1A(NM_001202435.3):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000883874"	"0"	"50"	"2"	"166930107"	"166930107"	"subst"	"0"	"02329"	"SCN1A_000518"	"g.166930107G>A"	""	""	""	"SCN1A(NM_001165963.3):c.25C>T (p.P9S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000903130"	"0"	"70"	"2"	"166863768"	"166863768"	"subst"	"0"	"03779"	"SCN1A_000519"	"g.166863768A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000908530"	"0"	"90"	"2"	"166911277"	"166911277"	"subst"	"0"	"00006"	"SCN1A_000526"	"g.166911277C>G"	""	"{PMID:Zhou 2018:29314583}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.166054767C>G"	""	"pathogenic"	"ACMG"
"0000908531"	"0"	"90"	"2"	"0"	"0"	""	"0"	"00006"	"SNRNP200_000007"	"g.?"	""	"{PMID:Zhou 2018:29314583}"	""	"R837X"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000908532"	"0"	"90"	"2"	"0"	"0"	""	"0"	"00006"	"SNRNP200_000007"	"g.?"	""	"{PMID:Zhou 2018:29314583}"	""	"P1508TfsX18"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000908533"	"0"	"90"	"2"	"166848093"	"166848093"	"del"	"0"	"00006"	"SCN1A_000522"	"g.166848093del"	""	"{PMID:Zhou 2018:29314583}"	""	"P1898fs"	""	"De novo"	""	""	"0"	""	""	"g.165991583del"	""	"pathogenic"	"ACMG"
"0000908534"	"0"	"70"	"2"	"166903410"	"166903410"	"subst"	"0"	"00006"	"SCN1A_000525"	"g.166903410T>A"	""	"{PMID:Zhou 2018:29314583}"	""	"N416I"	""	"De novo"	""	""	"0"	""	""	"g.166046900T>A"	""	"likely pathogenic"	"ACMG"
"0000908535"	"11"	"50"	"2"	"166929997"	"166929997"	"subst"	"0"	"00006"	"SCN1A_000527"	"g.166929997G>R"	""	"{PMID:Zhou 2018:29314583}"	""	"D45E"	""	"Germline"	""	""	"0"	""	""	"g.166073487G>R"	""	"VUS"	"ACMG"
"0000908536"	"11"	"50"	"2"	"166901716"	"166901716"	"subst"	"0.000117919"	"00006"	"SCN1A_000524"	"g.166901716C>T"	""	"{PMID:Zhou 2018:29314583}"	""	"R500Q"	""	"Germline"	""	""	"0"	""	""	"g.166045206C>T"	""	"VUS"	"ACMG"
"0000908537"	"21"	"50"	"2"	"166892896"	"166892896"	"subst"	"0"	"00006"	"SCN1A_000523"	"g.166892896A>C"	""	"{PMID:Zhou 2018:29314583}"	""	"D1031Y"	""	"Germline"	""	""	"0"	""	""	"g.166036386A>C"	""	"VUS"	"ACMG"
"0000908558"	"0"	"90"	"2"	"166868674"	"166868674"	"subst"	"0"	"00006"	"SCN1A_000520"	"g.166868674C>G"	""	"{PMID:Veeramah 2013:23647072}"	""	"G3824C (G1275A)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000908561"	"0"	"90"	"2"	"166870379"	"166870379"	"del"	"0"	"00006"	"SCN1A_000521"	"g.166870379del"	""	"{PMID:Veeramah 2013:23647072}"	""	"3547delA (I1183fs)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000911225"	"0"	"70"	"2"	"166848875"	"166848875"	"subst"	"0"	"02327"	"SCN1A_000528"	"g.166848875A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000911226"	"0"	"30"	"2"	"166866373"	"166866375"	"del"	"0"	"01804"	"SCN1A_000529"	"g.166866373_166866375del"	""	""	""	"SCN1A(NM_001165963.1):c.3880-22_3880-20del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911227"	"0"	"50"	"2"	"166901611"	"166901611"	"subst"	"4.06332E-6"	"02325"	"SCN1A_000530"	"g.166901611C>G"	""	""	""	"SCN1A(NM_001165963.4):c.1604G>C (p.R535P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911228"	"0"	"30"	"2"	"166913029"	"166913029"	"subst"	"4.08357E-6"	"02327"	"SCN1A_000531"	"g.166913029A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911229"	"0"	"50"	"2"	"166929902"	"166929902"	"subst"	"0"	"02327"	"SCN1A_000532"	"g.166929902A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923332"	"0"	"10"	"2"	"166895927"	"166895930"	"del"	"0"	"01804"	"SCN1A_000196"	"g.166895927_166895930del"	""	""	""	"SCN1A(NM_001165963.1):c.2589+16_2589+19del (p.(=)), SCN1A(NM_001165963.3):c.2589+16_2589+19delAAAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000923333"	"0"	"90"	"2"	"166895938"	"166895938"	"subst"	"0"	"02325"	"SCN1A_000294"	"g.166895938G>A"	""	""	""	"SCN1A(NM_001165963.4):c.2584C>T (p.R862*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000923334"	"0"	"50"	"2"	"166904177"	"166904177"	"subst"	"4.06918E-6"	"02327"	"SCN1A_000314"	"g.166904177C>T"	""	""	""	"SCN1A(NM_001165963.4):c.1130G>A (p.R377Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923335"	"0"	"70"	"2"	"166911203"	"166911203"	"subst"	"0"	"02325"	"SCN1A_000533"	"g.166911203A>G"	""	""	""	"SCN1A(NM_001165963.4):c.547T>C (p.F183L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000928300"	"0"	"50"	"2"	"166896045"	"166896045"	"subst"	"0"	"02327"	"SCN1A_000534"	"g.166896045T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928301"	"0"	"90"	"2"	"166904177"	"166904177"	"subst"	"4.06918E-6"	"02325"	"SCN1A_000314"	"g.166904177C>T"	""	""	""	"SCN1A(NM_001165963.4):c.1130G>A (p.R377Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000928302"	"0"	"70"	"2"	"166909425"	"166909425"	"subst"	"0"	"02325"	"SCN1A_000535"	"g.166909425T>C"	""	""	""	"SCN1A(NM_001165963.4):c.631A>G (p.N211D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000931565"	"11"	"90"	"2"	"166894429"	"166894429"	"subst"	"0"	"03288"	"SCN1A_000469"	"g.166894429T>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.166037919T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000931566"	"21"	"90"	"2"	"166859087"	"166859087"	"subst"	"0"	"03288"	"SCN1A_000468"	"g.166859087A>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.166002577A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000935920"	"0"	"90"	"2"	"166895938"	"166895938"	"subst"	"0"	"00006"	"SCN1A_000294"	"g.166895938G>A"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166039428G>A"	""	"pathogenic (dominant)"	""
"0000935932"	"0"	"90"	"2"	"166870322"	"166870322"	"subst"	"0"	"00006"	"SCN1A_000171"	"g.166870322G>A"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166013812G>A"	""	"pathogenic (dominant)"	""
"0000935960"	"0"	"70"	"2"	"166856261"	"166856261"	"subst"	"0"	"00006"	"SCN1A_000539"	"g.166856261A>G"	""	"{PMID:Chuan 2022:35571021}"	""	""	"ACMG PM1,PM2,PP3,PP4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.165999751A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000935966"	"0"	"90"	"2"	"166900532"	"166900532"	"dup"	"0"	"00006"	"SCN1A_000540"	"g.166900532dup"	""	"{PMID:Chuan 2022:35571021}"	""	""	"ACMG PVS1,PM2,PM4"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166044022dup"	""	"pathogenic (dominant)"	"ACMG"
"0000935982"	"0"	"90"	"2"	"166866245"	"166866245"	"subst"	"0"	"00006"	"SCN1A_000163"	"g.166866245C>A"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166009735C>A"	""	"pathogenic (dominant)"	""
"0000935995"	"0"	"90"	"2"	"166866249"	"166866249"	"subst"	"0"	"00006"	"SCN1A_000541"	"g.166866249A>G"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.166009739A>G"	""	"pathogenic (dominant)"	""
"0000936208"	"0"	"90"	"2"	"166905418"	"166905418"	"subst"	"0"	"00006"	"SCN1A_000538"	"g.166905418A>C"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.T1006G (C336G)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000936217"	"0"	"90"	"2"	"166909392"	"166909392"	"subst"	"0"	"00006"	"SCN1A_000018"	"g.166909392G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.C664T (R222X)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000936242"	"0"	"90"	"2"	"166894285"	"166894285"	"subst"	"0"	"00006"	"SCN1A_000536"	"g.166894285C>A"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.2913+1G>T"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000936304"	"0"	"70"	"2"	"166848467"	"166848467"	"subst"	"0"	"00006"	"SCN1A_000125"	"g.166848467G>T"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.C5285A (S1762Y)"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000936334"	"0"	"70"	"2"	"166894519"	"166894519"	"subst"	"0"	"00006"	"SCN1A_000537"	"g.166894519C>G"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.G2680C (A894P)"	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000936355"	"0"	"90"	"2"	"166898844"	"166898844"	"subst"	"0"	"00006"	"SCN1A_000296"	"g.166898844G>A"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_006920:c.C2101T (R701X)"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000945965"	"0"	"50"	"2"	"166903330"	"166903330"	"subst"	"4.06636E-6"	"03779"	"SCN1A_000542"	"g.166903330C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1300925640"	"0"	""	""	""	""	"VUS"	""
"0000947392"	"0"	"90"	"2"	"166852555"	"166852555"	"dup"	"0"	"02326"	"SCN1A_000543"	"g.166852555dup"	""	""	""	"SCN1A(NM_001165963.3):c.4554dupA (p.P1519Tfs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000947393"	"0"	"30"	"2"	"166897983"	"166897983"	"subst"	"0"	"02325"	"SCN1A_000544"	"g.166897983G>C"	""	""	""	"SCN1A(NM_001165963.4):c.2177-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947394"	"0"	"50"	"2"	"166898843"	"166898843"	"subst"	"3.25158E-5"	"02325"	"SCN1A_000545"	"g.166898843C>T"	""	""	""	"SCN1A(NM_001165963.4):c.2135G>A (p.R712Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947395"	"0"	"50"	"2"	"166903344"	"166903344"	"subst"	"0"	"02325"	"SCN1A_000546"	"g.166903344T>C"	""	""	""	"SCN1A(NM_001165963.4):c.1313A>G (p.E438G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000952169"	"21"	"70"	"2"	"166859087"	"166859087"	"subst"	"0"	"03288"	"SCN1A_000468"	"g.166859087A>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.166002577A>T"	""	"pathogenic (recessive)"	"ACMG"
"0000952170"	"11"	"90"	"2"	"166894429"	"166894429"	"subst"	"0"	"03288"	"SCN1A_000469"	"g.166894429T>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.166037919T>A"	""	"pathogenic (recessive)"	"ACMG"
"0000959654"	"0"	"70"	"2"	"166848560"	"166848560"	"subst"	"0"	"03820"	"SCN1A_000547"	"g.166848560T>C"	""	""	""	""	""	"Germline"	""	"rs121918812"	""	""	""	"g.165992050T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000959734"	"0"	"70"	"2"	"166850739"	"166850739"	"subst"	"0"	"00006"	"SCN1A_000548"	"g.166850739A>G"	""	"{PMID:Ostrander 2018:30109124}"	""	"NM_006920.4:c.4736C>G"	"ACMG PS2, PM2, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.165994229A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000961403"	"0"	"70"	"2"	"166894364"	"166894364"	"subst"	"0"	"02325"	"SCN1A_000550"	"g.166894364C>T"	""	""	""	"SCN1A(NM_001165963.4):c.2868G>A (p.M956I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000961404"	"0"	"50"	"2"	"166897880"	"166897880"	"subst"	"0"	"02325"	"SCN1A_000551"	"g.166897880T>C"	""	""	""	"SCN1A(NM_001165963.4):c.2276A>G (p.H759R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000961405"	"0"	"90"	"2"	"166898902"	"166898902"	"del"	"0"	"02325"	"SCN1A_000552"	"g.166898902del"	""	""	""	"SCN1A(NM_001165963.4):c.2077delA (p.R693Gfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000961409"	"0"	"70"	"2"	"166905453"	"166905453"	"subst"	"0"	"02327"	"SCN1A_000553"	"g.166905453T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000961410"	"0"	"90"	"2"	"166908381"	"166908381"	"subst"	"0"	"02327"	"SCN1A_000373"	"g.166908381C>T"	""	""	""	"SCN1A(NM_001165963.4):c.812G>A (p.G271D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000972233"	"21"	"70"	"2"	"166894510"	"166894510"	"subst"	"0"	"04674"	"SCN1A_000554"	"g.166894510C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166038000C>T"	""	"likely pathogenic"	"ACMG"
"0000972235"	"21"	"70"	"2"	"166894510"	"166894510"	"subst"	"0"	"04674"	"SCN1A_000554"	"g.166894510C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.166038000C>T"	""	"likely pathogenic"	"ACMG"
"0000974416"	"0"	"50"	"2"	"166847873"	"166847873"	"dup"	"0"	"01804"	"SCN1A_000555"	"g.166847873dup"	""	""	""	"SCN1A(NM_001165963.4):c.5917dup (p.(Thr1973AsnfsTer2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974417"	"0"	"70"	"2"	"166866245"	"166866245"	"subst"	"0"	"01804"	"SCN1A_000556"	"g.166866245C>T"	""	""	""	"SCN1A(NM_001165963.4):c.3986G>A (p.(Arg1329Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000974418"	"0"	"90"	"2"	"166868764"	"166868764"	"subst"	"0"	"02325"	"SCN1A_000557"	"g.166868764C>T"	""	""	""	"SCN1A(NM_001165963.4):c.3734G>A (p.R1245Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974419"	"0"	"50"	"2"	"166870341"	"166870341"	"subst"	"4.0712E-6"	"01804"	"SCN1A_000558"	"g.166870341G>C"	""	""	""	"SCN1A(NM_001165963.4):c.3618C>G (p.(Asn1206Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974420"	"0"	"50"	"2"	"166872192"	"166872192"	"subst"	"8.13458E-6"	"01804"	"SCN1A_000559"	"g.166872192T>C"	""	""	""	"SCN1A(NM_001165963.4):c.3475A>G (p.(Ile1159Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974421"	"0"	"90"	"2"	"166898844"	"166898844"	"subst"	"0"	"02325"	"SCN1A_000296"	"g.166898844G>A"	""	""	""	"SCN1A(NM_001165963.4):c.2134C>T (p.R712*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974422"	"0"	"50"	"2"	"166900478"	"166900478"	"subst"	"0"	"01804"	"SCN1A_000560"	"g.166900478T>C"	""	""	""	"SCN1A(NM_001165963.1):c.1744A>G (p.(Lys582Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974423"	"0"	"30"	"2"	"166909352"	"166909352"	"subst"	"0.000102255"	"01804"	"SCN1A_000256"	"g.166909352T>C"	""	""	""	"SCN1A(NM_001165963.2):c.694+10A>G, SCN1A(NM_001165963.3):c.694+10A>G, SCN1A(NM_001165963.4):c.694+10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991764"	"0"	"30"	"2"	"166847794"	"166847794"	"subst"	"0"	"01804"	"SCN1A_000561"	"g.166847794A>C"	""	""	""	"SCN1A(NM_001165963.1):c.5991T>G (p.(His1997Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991765"	"0"	"50"	"2"	"166848421"	"166848421"	"subst"	"0"	"01804"	"SCN1A_000279"	"g.166848421G>T"	""	""	""	"SCN1A(NM_001165963.1):c.5364C>A (p.(Asn1788Lys)), SCN1A(NM_001165963.3):c.5364C>A (p.N1788K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991766"	"0"	"90"	"2"	"166848446"	"166848446"	"subst"	"0"	"02327"	"SCN1A_000562"	"g.166848446A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000991767"	"0"	"30"	"2"	"166848930"	"166848930"	"subst"	"0.000513171"	"01804"	"SCN1A_000486"	"g.166848930T>C"	""	""	""	"SCN1A(NM_001165963.1):c.4855A>G (p.(Met1619Val)), SCN1A(NM_001165963.2):c.4855A>G (p.M1619V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991768"	"0"	"30"	"2"	"166866332"	"166866332"	"subst"	"0.000155125"	"02325"	"SCN1A_000165"	"g.166866332G>A"	""	""	""	"SCN1A(NM_001165963.4):c.3899C>T (p.(Thr1300Ile), p.T1300I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991769"	"0"	"30"	"2"	"166872165"	"166872165"	"subst"	"1.62662E-5"	"01804"	"SCN1A_000563"	"g.166872165C>T"	""	""	""	"SCN1A(NM_006920.4):c.3469G>A (p.(Val1157Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991770"	"0"	"30"	"2"	"166892739"	"166892739"	"subst"	"0"	"01804"	"SCN1A_000564"	"g.166892739G>A"	""	""	""	"SCN1A(NM_006920.4):c.3215C>T (p.(Thr1072Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991771"	"0"	"50"	"2"	"166892934"	"166892934"	"subst"	"2.52154E-5"	"01804"	"SCN1A_000565"	"g.166892934C>T"	""	""	""	"SCN1A(NM_001165963.1):c.3053G>A (p.(Arg1018Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991772"	"0"	"50"	"2"	"166894404"	"166894404"	"subst"	"0"	"02329"	"SCN1A_000505"	"g.166894404A>G"	""	""	""	"SCN1A(NM_001165963.4):c.2828T>C (p.I943T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991773"	"0"	"30"	"2"	"166896085"	"166896085"	"subst"	"8.13577E-6"	"01804"	"SCN1A_000566"	"g.166896085C>T"	""	""	""	"SCN1A(NM_006920.4):c.2404G>A (p.(Ala802Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991774"	"0"	"50"	"2"	"166897850"	"166897850"	"subst"	"0"	"01804"	"SCN1A_000567"	"g.166897850A>G"	""	""	""	"SCN1A(NM_001202435.1):c.2306T>C (p.(Phe769Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991775"	"0"	"50"	"2"	"166898822"	"166898822"	"subst"	"0"	"01804"	"SCN1A_000295"	"g.166898822A>T"	""	""	""	"SCN1A(NM_001165963.1):c.2156T>A (p.(Ile719Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991776"	"0"	"30"	"2"	"166898865"	"166898865"	"subst"	"0"	"01804"	"SCN1A_000568"	"g.166898865C>T"	""	""	""	"SCN1A(NM_001202435.1):c.2113G>A (p.(Glu705Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991777"	"0"	"50"	"2"	"166900216"	"166900216"	"subst"	"1.21975E-5"	"01804"	"SCN1A_000569"	"g.166900216G>A"	""	""	""	"SCN1A(NM_001165963.1):c.2006C>T (p.(Pro669Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991778"	"0"	"30"	"2"	"166909368"	"166909368"	"subst"	"0"	"01804"	"SCN1A_000570"	"g.166909368T>C"	""	""	""	"SCN1A(NM_006920.4):c.688A>G (p.(Ile230Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991779"	"0"	"50"	"2"	"166909391"	"166909391"	"subst"	"0"	"01804"	"SCN1A_000571"	"g.166909391C>T"	""	""	""	"SCN1A(NM_006920.4):c.665G>A (p.(Arg222Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991780"	"0"	"90"	"2"	"166909392"	"166909392"	"subst"	"0"	"02329"	"SCN1A_000018"	"g.166909392G>A"	""	""	""	"SCN1A(NM_001165963.4):c.664C>T (p.R222*), SCN1A(NM_001202435.2):c.664C>T (p.R222*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000991781"	"0"	"30"	"2"	"166911142"	"166911143"	"dup"	"0"	"01804"	"SCN1A_000019"	"g.166911142_166911143dup"	""	""	""	"SCN1A(NM_001165963.1):c.602+6_602+7dupTG (p.?), SCN1A(NM_001165963.3):c.602+6_602+7dupTG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991782"	"0"	"50"	"2"	"166930049"	"166930049"	"subst"	"8.12618E-6"	"01804"	"SCN1A_000572"	"g.166930049C>T"	""	""	""	"SCN1A(NM_001165963.1):c.83G>A (p.(Arg28His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001011935"	"0"	"90"	"2"	"166909379"	"166909379"	"subst"	"0"	"00006"	"SCN1A_000258"	"g.166909379G>A"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.166052869G>A"	"VCV000068578.4"	"pathogenic"	""
"0001011938"	"0"	"90"	"2"	"166848605"	"166848605"	"subst"	"0"	"00006"	"SCN1A_000574"	"g.166848605T>C"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.165992095T>C"	"SUB7801569"	"pathogenic"	""
"0001011948"	"0"	"90"	"2"	"166848438"	"166848438"	"subst"	"0"	"00006"	"SCN1A_000573"	"g.166848438C>T"	""	"{PMID:Salinas 2020:33084218}"	""	"NM_006920:c.5314G>A"	""	"Unknown"	""	""	"0"	""	""	"g.165991928C>T"	"RCV000188999.3"	"pathogenic"	""
"0001011980"	"0"	"90"	"2"	"166903479"	"166903479"	"subst"	"0"	"00006"	"SCN1A_000298"	"g.166903479C>T"	""	"{PMID:Salinas 2020:33084218}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.166046969C>T"	"VCV000068506.6"	"pathogenic"	""
"0001013399"	"0"	"50"	"2"	"166848123"	"166848123"	"subst"	"0"	"02325"	"SCN1A_000575"	"g.166848123G>C"	""	""	""	"SCN1A(NM_001165963.4):c.5662C>G (p.Q1888E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013400"	"0"	"50"	"2"	"166850674"	"166850674"	"subst"	"0.000169154"	"02325"	"SCN1A_000576"	"g.166850674C>T"	""	""	""	"SCN1A(NM_001165963.4):c.4834G>A (p.V1612I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013401"	"0"	"70"	"2"	"166854610"	"166854610"	"subst"	"0"	"02325"	"SCN1A_000577"	"g.166854610A>T"	""	""	""	"SCN1A(NM_001165963.4):c.4414T>A (p.F1472I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001013402"	"0"	"90"	"2"	"166894441"	"166894441"	"subst"	"0"	"02325"	"SCN1A_000194"	"g.166894441G>A"	""	""	""	"SCN1A(NM_001165963.3):c.2791C>T (p.R931C), SCN1A(NM_001165963.4):c.2791C>T (p.R931C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001019159"	"0"	"70"	"2"	"166897739"	"166897752"	"del"	"0"	"01164"	"SCN1A_000578"	"g.166897739_166897752del"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP"	"De novo"	"-"	""	"0"	""	""	"g.166041229_166041242del"	""	"pathogenic (dominant)"	"ACMG"
"0001024252"	"0"	"90"	"2"	"166850722"	"166850722"	"subst"	"0"	"02327"	"SCN1A_000083"	"g.166850722G>A"	""	""	""	"SCN1A(NM_001165963.3):c.4786C>T (p.R1596C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001024253"	"0"	"30"	"2"	"166850777"	"166850777"	"subst"	"0.00132452"	"01804"	"SCN1A_000086"	"g.166850777A>G"	""	""	""	"SCN1A(NM_001165963.1):c.4731T>C (p.(Asn1577=)), SCN1A(NM_001165963.2):c.4731T>C (p.N1577=), SCN1A(NM_001165963.3):c.4731T>C (p.N1577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024254"	"0"	"70"	"2"	"166850832"	"166850832"	"subst"	"0"	"02327"	"SCN1A_000579"	"g.166850832A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001024255"	"0"	"70"	"2"	"166900561"	"166900561"	"subst"	"0"	"02325"	"SCN1A_000580"	"g.166900561T>G"	""	""	""	"SCN1A(NM_001165963.4):c.1663-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001032475"	"0"	"90"	"2"	"166848620"	"166848620"	"subst"	"0"	"02327"	"SCN1A_000581"	"g.166848620G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001032476"	"0"	"50"	"2"	"166850772"	"166850772"	"subst"	"4.07538E-6"	"01804"	"SCN1A_000548"	"g.166850772A>G"	""	""	""	"SCN1A(NM_001165963.4):c.4736T>C (p.(Val1579Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032477"	"0"	"30"	"2"	"166852556"	"166852556"	"subst"	"0.000338091"	"01804"	"SCN1A_000582"	"g.166852556C>T"	""	""	""	"SCN1A(NM_001165963.4):c.4548G>A (p.(Ser1516=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032478"	"0"	"50"	"2"	"166852582"	"166852582"	"subst"	"0"	"01804"	"SCN1A_000583"	"g.166852582A>G"	""	""	""	"SCN1A(NM_001165963.4):c.4522T>C (p.(Tyr1508His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032479"	"0"	"30"	"2"	"166868784"	"166868784"	"subst"	"4.54771E-5"	"01804"	"SCN1A_000421"	"g.166868784T>G"	""	""	""	"SCN1A(NM_001165963.4):c.3714A>C (p.(Glu1238Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032480"	"0"	"50"	"2"	"166870370"	"166870370"	"subst"	"0"	"01804"	"SCN1A_000584"	"g.166870370C>G"	""	""	""	"SCN1A(NM_001165963.4):c.3589G>C (p.(Glu1197Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032481"	"0"	"30"	"2"	"166892821"	"166892821"	"subst"	"4.4895E-5"	"01804"	"SCN1A_000585"	"g.166892821T>C"	""	""	""	"SCN1A(NM_001165963.4):c.3166A>G (p.(Asn1056Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032482"	"0"	"30"	"2"	"167001637"	"167001637"	"subst"	"0"	"01804"	"SCN1A_000586"	"g.167001637C>T"	""	""	""	"SCN1A(NM_001202435.3):c.-142+3920G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001045492"	"0"	"90"	"2"	"166897741"	"166897741"	"subst"	"0"	"01164"	"SCN1A_000587"	"g.166897741C>T"	""	"PMID: 37956038"	""	""	"ACMG: PVS1_RNA, PS2_SUP, PM2_SUP; confirmed de novo, RNA study demonstrates two out-of-frame effects"	"De novo"	"-"	""	"0"	""	""	"g.166041231C>T"	""	"pathogenic (dominant)"	"ACMG"
"0001045718"	"0"	"50"	"2"	"166903458"	"166903458"	"subst"	"0"	"02325"	"SCN1A_000588"	"g.166903458A>G"	""	""	""	"SCN1A(NM_001165963.4):c.1199T>C (p.M400T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050860"	"0"	"30"	"2"	"166930100"	"166930100"	"subst"	"8.12453E-6"	"01804"	"SCN1A_000380"	"g.166930100G>T"	""	""	""	"SCN1A(NM_001165963.3):c.32C>A (p.P11H), SCN1A(NM_001165963.4):c.32C>A (p.(Pro11His)), SCN1A(NM_001202435.3):c.32C>A (p.P11H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 SCN1A
## Count = 1295
"{{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/Protein/Domain}}"
"0000035988"	"00018515"	"75"	"1029"	"-2"	"1029"	"-2"	"c.1029-2A>G"	"r.spl?"	"p.?"	"9i"	""
"0000035995"	"00018515"	"75"	"172"	"0"	"172"	"0"	"c.172G>A"	"r.(?)"	"p.(Gly58Arg)"	"1"	""
"0000063978"	"00023858"	"50"	"4379"	"0"	"4379"	"0"	"c.4379A>G"	"r.(?)"	"p.(Tyr1460Cys)"	""	""
"0000063979"	"00023858"	"90"	"380"	"0"	"380"	"0"	"c.380A>G"	"r.(?)"	"p.(His127Arg)"	""	""
"0000063980"	"00023858"	"90"	"301"	"0"	"301"	"0"	"c.301C>T"	"r.(?)"	"p.(Arg101Trp)"	""	""
"0000063981"	"00023858"	"10"	"1719"	"0"	"1719"	"0"	"c.1719C>T"	"r.(=)"	"p.(=)"	""	""
"0000063982"	"00023858"	"50"	"3391"	"0"	"3391"	"0"	"c.3391G>C"	"r.(?)"	"p.(Asp1131His)"	""	""
"0000063983"	"00023858"	"50"	"4734"	"0"	"4734"	"0"	"c.4734G>T"	"r.(=)"	"p.(=)"	""	""
"0000063984"	"00023858"	"50"	"2421"	"0"	"2421"	"0"	"c.2421C>T"	"r.(=)"	"p.(=)"	""	""
"0000063985"	"00023858"	"90"	"246"	"0"	"246"	"0"	"c.246del"	"r.(?)"	"p.(Tyr83Thrfs*9)"	""	""
"0000063986"	"00023858"	"10"	"2889"	"0"	"2889"	"0"	"c.2889T>C"	"r.(=)"	"p.(=)"	""	""
"0000063987"	"00023858"	"50"	"4338"	"60"	"4338"	"60"	"c.4338+60G>C"	"r.(=)"	"p.(=)"	""	""
"0000063988"	"00023858"	"50"	"2947"	"-125"	"2947"	"-125"	"c.2947-125G>T"	"r.(=)"	"p.(=)"	""	""
"0000063989"	"00023858"	"50"	"4384"	"0"	"4384"	"0"	"c.4384T>C"	"r.(?)"	"p.(Tyr1462His)"	""	""
"0000063990"	"00023858"	"10"	"1663"	"-26"	"1663"	"-26"	"c.1663-26A>T"	"r.(=)"	"p.(=)"	""	""
"0000063991"	"00023858"	"90"	"695"	"-1"	"695"	"-1"	"c.695-1G>T"	"r.spl?"	"p.?"	""	""
"0000063992"	"00023858"	"90"	"458"	"0"	"458"	"0"	"c.458G>A"	"r.(?)"	"p.(Trp153*)"	""	""
"0000063993"	"00023858"	"50"	"3573"	"0"	"3573"	"0"	"c.3573T>C"	"r.(=)"	"p.(=)"	""	""
"0000063994"	"00023858"	"90"	"4003"	"-1"	"4003"	"-1"	"c.4003-1G>A"	"r.spl?"	"p.(=)"	""	""
"0000063995"	"00023858"	"50"	"4003"	"-81"	"4003"	"-81"	"c.4003-81A>G"	"r.(=)"	"p.(=)"	""	""
"0000063996"	"00023858"	"50"	"2552"	"0"	"2552"	"0"	"c.2552A>G"	"r.(?)"	"p.(Asn851Ser)"	""	""
"0000063997"	"00023858"	"50"	"4003"	"-69"	"4003"	"-69"	"c.4003-69T>C"	"r.(=)"	"p.(=)"	""	""
"0000063998"	"00023858"	"50"	"3120"	"0"	"3120"	"0"	"c.3120G>T"	"r.(?)"	"p.(Arg1040Ser)"	""	""
"0000063999"	"00023858"	"90"	"5734"	"0"	"5734"	"0"	"c.5734C>T"	"r.(?)"	"p.(Arg1912*)"	""	""
"0000064000"	"00023858"	"90"	"4105"	"0"	"4108"	"0"	"c.4105_4108del"	"r.(?)"	"p.(Phe1369Leufs*21)"	""	""
"0000064001"	"00023858"	"90"	"4380"	"0"	"4380"	"0"	"c.4380T>A"	"r.(?)"	"p.(Tyr1460*)"	""	""
"0000064002"	"00023858"	"10"	"3705"	"55"	"3705"	"55"	"c.3705+55C>G"	"r.(=)"	"p.(=)"	""	""
"0000064003"	"00023858"	"90"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Trp384*)"	""	""
"0000064004"	"00023858"	"90"	"4812"	"0"	"4812"	"0"	"c.4812G>A"	"r.(?)"	"p.(Trp1604*)"	""	""
"0000064005"	"00023858"	"10"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(=)"	"p.(=)"	""	""
"0000064006"	"00023858"	"90"	"4476"	"0"	"4476"	"2"	"c.4476_4476+2del"	"r.spl?"	"p.?"	""	""
"0000064007"	"00023858"	"90"	"4997"	"0"	"4997"	"0"	"c.4997C>T"	"r.(?)"	"p.(Ser1666Phe)"	""	""
"0000064008"	"00023858"	"50"	"909"	"0"	"909"	"0"	"c.909A>G"	"r.(=)"	"p.(=)"	""	""
"0000064009"	"00023858"	"90"	"4573"	"0"	"4573"	"0"	"c.4573C>T"	"r.(?)"	"p.(Arg1525*)"	""	""
"0000064010"	"00023858"	"50"	"134"	"0"	"135"	"0"	"c.134_135insTTGA"	"r.(?)"	"p.(Glu46*)"	""	""
"0000064011"	"00023858"	"50"	"4085"	"0"	"4085"	"0"	"c.4085G>C"	"r.(?)"	"p.(Ser1362Thr)"	""	""
"0000064012"	"00023858"	"90"	"3733"	"0"	"3733"	"0"	"c.3733C>T"	"r.(?)"	"p.(Arg1245*)"	""	""
"0000064013"	"00023858"	"90"	"5332"	"0"	"5332"	"0"	"c.5332G>A"	"r.(?)"	"p.(Val1778Met)"	""	""
"0000064014"	"00023858"	"90"	"2867"	"0"	"2867"	"0"	"c.2867T>A"	"r.(?)"	"p.(Met956Lys)"	""	""
"0000064015"	"00023858"	"10"	"4731"	"0"	"4731"	"0"	"c.4731T>C"	"r.(=)"	"p.(=)"	""	""
"0000064016"	"00023858"	"50"	"2416"	"-35"	"2416"	"-35"	"c.2416-35C>G"	"r.(=)"	"p.(=)"	""	""
"0000064017"	"00023858"	"50"	"2143"	"0"	"2143"	"0"	"c.2143G>A"	"r.(=)"	"p.(Glu715Lys)"	""	""
"0000064018"	"00023858"	"50"	"4786"	"0"	"4786"	"0"	"c.4786C>T"	"r.(?)"	"p.(Arg1596Cys)"	""	""
"0000064019"	"00023858"	"90"	"4091"	"0"	"4091"	"0"	"c.4091T>G"	"r.(?)"	"p.(Met1364Arg)"	""	""
"0000064020"	"00023858"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377Gln)"	""	""
"0000064021"	"00023858"	"90"	"3989"	"0"	"3989"	"0"	"c.3989T>G"	"r.(?)"	"p.(Phe1330Cys)"	""	""
"0000064022"	"00023858"	"50"	"3501"	"0"	"3501"	"0"	"c.3501C>T"	"r.(=)"	"p.(=)"	""	""
"0000064023"	"00023858"	"50"	"1170"	"113"	"1170"	"113"	"c.1170+113G>A"	"r.(=)"	"p.(=)"	""	""
"0000064024"	"00023858"	"50"	"398"	"0"	"398"	"0"	"c.398T>A"	"r.(?)"	"p.(Leu133Gln)"	""	""
"0000064025"	"00023858"	"50"	"4582"	"-27"	"4582"	"-27"	"c.4582-27G>A"	"r.(=)"	"p.(=)"	""	""
"0000064026"	"00023858"	"50"	"4958"	"0"	"4958"	"0"	"c.4958C>A"	"r.(?)"	"p.(Ala1653Glu)"	""	""
"0000064027"	"00023858"	"90"	"3361"	"0"	"3361"	"0"	"c.3361G>T"	"r.(?)"	"p.(Glu1121*)"	""	""
"0000064028"	"00023858"	"50"	"5170"	"0"	"5170"	"0"	"c.5170G>A"	"r.(?)"	"p.(Ala1724Thr)"	""	""
"0000064029"	"00023858"	"90"	"2940"	"0"	"2940"	"0"	"c.2940C>G"	"r.(?)"	"p.(Asn980Lys)"	""	""
"0000064030"	"00023858"	"10"	"602"	"6"	"602"	"7"	"c.602+6_602+7dup"	"r.(=)"	"p.(=)"	""	""
"0000064031"	"00023858"	"10"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(=)"	"p.(=)"	""	""
"0000064032"	"00023858"	"50"	"4764"	"0"	"4764"	"0"	"c.4764T>A"	"r.(?)"	"p.(Cys1588*)"	""	""
"0000064033"	"00023858"	"10"	"5782"	"0"	"5782"	"0"	"c.5782C>G"	"r.(?)"	"p.(Arg1928Gly)"	""	""
"0000064034"	"00023858"	"50"	"5435"	"0"	"5435"	"0"	"c.5435G>T"	"r.(?)"	"p.(Trp1812Leu)"	""	""
"0000064035"	"00023858"	"90"	"1076"	"0"	"1076"	"0"	"c.1076A>G"	"r.(?)"	"p.(Asn359Ser)"	""	""
"0000064036"	"00023858"	"90"	"2576"	"0"	"2576"	"0"	"c.2576G>A"	"r.(?)"	"p.(Arg859His)"	""	""
"0000064037"	"00023858"	"50"	"2792"	"0"	"2792"	"0"	"c.2792G>T"	"r.(?)"	"p.(Arg931Leu)"	""	""
"0000064038"	"00023858"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222*)"	""	""
"0000064039"	"00023858"	"50"	"3705"	"55"	"3705"	"55"	"c.3705+55C>G"	"r.(=)"	"p.(=)"	""	""
"0000064040"	"00023858"	"90"	"2214"	"0"	"2214"	"0"	"c.2214G>A"	"r.(?)"	"p.(Trp738*)"	""	""
"0000064041"	"00023858"	"50"	"4497"	"0"	"4497"	"0"	"c.4497del"	"r.(?)"	"p.(Phe1499Leufs*2)"	""	""
"0000064042"	"00023858"	"90"	"1609"	"0"	"1610"	"0"	"c.1609_1610del"	"r.(?)"	"p.(Ser537Hisfs*2)"	""	""
"0000064043"	"00023858"	"10"	"2177"	"-38"	"2177"	"-38"	"c.2177-38C>A"	"r.(=)"	"p.(=)"	""	""
"0000064044"	"00023858"	"50"	"5418"	"0"	"5418"	"0"	"c.5418G>A"	"r.(=)"	"p.(=)"	""	""
"0000064045"	"00023858"	"50"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Glu788Lys)"	""	""
"0000064046"	"00023858"	"50"	"5321"	"0"	"5321"	"0"	"c.5321T>C"	"r.(?)"	"p.(Phe1774Ser)"	""	""
"0000064047"	"00023858"	"50"	"5062"	"0"	"5062"	"0"	"c.5062G>A"	"r.(?)"	"p.(Gly1688Arg)"	""	""
"0000064048"	"00023858"	"50"	"4557"	"0"	"4557"	"0"	"c.4557G>A"	"r.(=)"	"p.(=)"	""	""
"0000064049"	"00023858"	"50"	"5612"	"0"	"5612"	"0"	"c.5612T>C"	"r.(?)"	"p.(Phe1871Ser)"	""	""
"0000064050"	"00023858"	"90"	"760"	"0"	"763"	"0"	"c.760_763del"	"r.(?)"	"p.(Thr254Cysfs*4)"	""	""
"0000064051"	"00023858"	"50"	"2415"	"83"	"2415"	"83"	"c.2415+83C>T"	"r.(=)"	"p.(=)"	""	""
"0000064052"	"00023858"	"10"	"1378"	"-61"	"1378"	"-61"	"c.1378-61del"	"r.(=)"	"p.(=)"	""	""
"0000064053"	"00023858"	"50"	"5075"	"0"	"5075"	"0"	"c.5075T>G"	"r.(?)"	"p.(Phe1692Cys)"	""	""
"0000064054"	"00023858"	"50"	"1440"	"0"	"1440"	"0"	"c.1440A>C"	"r.(=)"	"p.(=)"	""	""
"0000064055"	"00023858"	"90"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""	""
"0000064056"	"00023858"	"10"	"4476"	"14"	"4476"	"14"	"c.4476+14A>G"	"r.(=)"	"p.(=)"	""	""
"0000064057"	"00023858"	"90"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568*)"	""	""
"0000064058"	"00023858"	"50"	"4581"	"71"	"4581"	"71"	"c.4581+71A>T"	"r.(=)"	"p.(=)"	""	""
"0000064059"	"00023858"	"50"	"2946"	"120"	"2946"	"120"	"c.2946+120dup"	"r.(=)"	"p.(=)"	""	""
"0000064060"	"00023858"	"10"	"4582"	"-27"	"4582"	"-27"	"c.4582-27G>A"	"r.(=)"	"p.(=)"	""	""
"0000064061"	"00023858"	"50"	"1244"	"0"	"1244"	"0"	"c.1244T>A"	"r.(?)"	"p.(Ile415Lys)"	""	""
"0000064062"	"00023858"	"90"	"4942"	"0"	"4942"	"0"	"c.4942C>T"	"r.(?)"	"p.(Arg1648Cys)"	""	""
"0000064063"	"00023858"	"50"	"964"	"185"	"964"	"185"	"c.964+185T>A"	"r.(=)"	"p.(=)"	""	""
"0000064064"	"00023858"	"50"	"886"	"0"	"886"	"0"	"c.886A>G"	"r.(?)"	"p.(Ile296Val)"	""	""
"0000064065"	"00023858"	"90"	"602"	"1"	"602"	"1"	"c.602+1G>A"	"r.spl?"	"p.?"	""	""
"0000064066"	"00023858"	"50"	"964"	"2"	"964"	"5"	"c.964+2_964+5del"	"r.spl?"	"p.?"	""	""
"0000064067"	"00023858"	"50"	"695"	"-21"	"695"	"-21"	"c.695-21T>G"	"r.(=)"	"p.(=)"	""	""
"0000064068"	"00023858"	"50"	"695"	"-66"	"695"	"-66"	"c.695-66del"	"r.(=)"	"p.(=)"	""	""
"0000064069"	"00023858"	"10"	"964"	"41"	"964"	"41"	"c.964+41T>A"	"r.(=)"	"p.(=)"	""	""
"0000064070"	"00023858"	"50"	"1029"	"-11"	"1029"	"-11"	"c.1029-11C>G"	"r.(=)"	"p.(=)"	""	""
"0000064071"	"00023858"	"50"	"1662"	"73"	"1662"	"73"	"c.1662+73T>G"	"r.(=)"	"p.(=)"	""	""
"0000064072"	"00023858"	"90"	"302"	"0"	"302"	"0"	"c.302G>A"	"r.(?)"	"p.(Arg101Gln)"	""	""
"0000064073"	"00023858"	"50"	"4945"	"0"	"4945"	"0"	"c.4945C>T"	"r.(=)"	"p.(=)"	""	""
"0000064074"	"00023858"	"90"	"4580"	"0"	"4582"	"0"	"c.4580_4582del"	"r.(?)"	"p.(Gly1527_Asn1528delinsAsp)"	""	""
"0000064075"	"00023858"	"50"	"2946"	"77"	"2946"	"77"	"c.2946+77A>G"	"r.(=)"	"p.(=)"	""	""
"0000064076"	"00023858"	"50"	"1150"	"0"	"1150"	"0"	"c.1150T>G"	"r.(?)"	"p.(Trp384Gly)"	""	""
"0000064077"	"00023858"	"50"	"383"	"117"	"383"	"117"	"c.383+117T>C"	"r.(=)"	"p.(=)"	""	""
"0000064078"	"00023858"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000064079"	"00023858"	"50"	"1172"	"0"	"1172"	"0"	"c.1172C>G"	"r.(?)"	"p.(Thr391Arg)"	""	""
"0000064080"	"00023858"	"50"	"1178"	"0"	"1178"	"0"	"c.1178G>T"	"r.(?)"	"p.(Arg393Leu)"	""	""
"0000064081"	"00023858"	"50"	"3764"	"0"	"3764"	"0"	"c.3764C>T"	"r.(?)"	"p.(Ala1255Val)"	""	""
"0000064082"	"00023858"	"10"	"2176"	"44"	"2176"	"44"	"c.2176+44C>T"	"r.(=)"	"p.(=)"	""	""
"0000064083"	"00023858"	"50"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000064084"	"00023858"	"90"	"777"	"0"	"777"	"0"	"c.777C>G"	"r.(?)"	"p.(Ser259Arg)"	""	""
"0000064085"	"00023858"	"50"	"1034"	"0"	"1034"	"0"	"c.1034G>A"	"r.(?)"	"p.(Cys345Tyr)"	""	""
"0000064086"	"00023858"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(=)"	"p.(=)"	""	""
"0000079398"	"00023858"	"00"	"-178423"	"0"	"1275364"	"0"	"c.-178423_*1269334del"	"r.0?"	"p.0?"	""	""
"0000079398"	"00018515"	"00"	"-178423"	"0"	"1275331"	"0"	"c.-178423_*1269334del"	"r.0?"	"p.0?"	""	""
"0000079632"	"00023858"	"00"	"5765"	"0"	"5765"	"0"	"c.5765T>G"	"r.(?)"	"p.(Ile1922Ser)"	""	""
"0000079632"	"00018515"	"00"	"5732"	"0"	"5732"	"0"	"c.5732T>G"	"r.(?)"	"p.(Ile1911Ser)"	""	""
"0000130060"	"00023858"	"70"	"1261"	"0"	"1261"	"0"	"c.1261G>A"	"r.(?)"	"p.(Val421Met)"	""	""
"0000130060"	"00018515"	"70"	"1261"	"0"	"1261"	"0"	"c.1261G>A"	"r.(?)"	"p.(Val421Met)"	""	""
"0000188130"	"00023858"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000188130"	"00018515"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000188255"	"00023858"	"00"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000188255"	"00018515"	"00"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000188336"	"00023858"	"00"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000188336"	"00018515"	"00"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000188366"	"00023858"	"00"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000188366"	"00018515"	"00"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000188463"	"00023858"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000188463"	"00018515"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000188483"	"00023858"	"00"	"3481"	"0"	"3481"	"0"	"c.3481G>A"	"r.(?)"	"p.(Ala1161Thr)"	""	""
"0000188483"	"00018515"	"00"	"3448"	"0"	"3448"	"0"	"c.3448G>A"	"r.(?)"	"p.(Ala1150Thr)"	""	""
"0000188544"	"00023858"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000188544"	"00018515"	"00"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000248498"	"00023858"	"10"	"2292"	"0"	"2292"	"0"	"c.2292T>C"	"r.(?)"	"p.(Val764=)"	""	""
"0000248498"	"00018515"	"10"	"2259"	"0"	"2259"	"0"	"c.2259T>C"	"r.(?)"	"p.(Val753=)"	""	""
"0000248785"	"00023858"	"10"	"5864"	"0"	"5864"	"0"	"c.5864T>C"	"r.(?)"	"p.(Ile1955Thr)"	""	""
"0000248785"	"00018515"	"10"	"5831"	"0"	"5831"	"0"	"c.5831T>C"	"r.(?)"	"p.(Ile1944Thr)"	""	""
"0000249434"	"00023858"	"30"	"3101"	"0"	"3101"	"0"	"c.3101T>C"	"r.(?)"	"p.(Ile1034Thr)"	""	""
"0000249434"	"00018515"	"30"	"3068"	"0"	"3068"	"0"	"c.3068T>C"	"r.(?)"	"p.(Ile1023Thr)"	""	""
"0000249504"	"00023858"	"30"	"1378"	"-3"	"1378"	"-3"	"c.1378-3T>C"	"r.spl?"	"p.?"	""	""
"0000249504"	"00018515"	"30"	"1378"	"-3"	"1378"	"-3"	"c.1378-3T>C"	"r.spl?"	"p.?"	""	""
"0000250756"	"00023858"	"10"	"2044"	"-5"	"2044"	"-5"	"c.2044-5del"	"r.spl?"	"p.?"	""	""
"0000250756"	"00018515"	"10"	"2011"	"-5"	"2011"	"-5"	"c.2011-5del"	"r.spl?"	"p.?"	""	""
"0000251001"	"00023858"	"10"	"3723"	"0"	"3723"	"0"	"c.3723T>C"	"r.(?)"	"p.(Tyr1241=)"	""	""
"0000251001"	"00018515"	"10"	"3690"	"0"	"3690"	"0"	"c.3690T>C"	"r.(?)"	"p.(Tyr1230=)"	""	""
"0000251002"	"00023858"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000251002"	"00018515"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000251254"	"00023858"	"10"	"4285"	"-43"	"4285"	"-43"	"c.4285-43T>A"	"r.(=)"	"p.(=)"	""	""
"0000251254"	"00018515"	"10"	"4252"	"-43"	"4252"	"-43"	"c.4252-43T>A"	"r.(=)"	"p.(=)"	""	""
"0000251255"	"00023858"	"10"	"3705"	"33"	"3705"	"33"	"c.3705+33T>G"	"r.(=)"	"p.(=)"	""	""
"0000251255"	"00018515"	"10"	"3672"	"33"	"3672"	"33"	"c.3672+33T>G"	"r.(=)"	"p.(=)"	""	""
"0000251256"	"00023858"	"10"	"3429"	"110"	"3429"	"110"	"c.3429+110T>A"	"r.(=)"	"p.(=)"	""	""
"0000251256"	"00018515"	"10"	"3396"	"110"	"3396"	"110"	"c.3396+110T>A"	"r.(=)"	"p.(=)"	""	""
"0000251257"	"00023858"	"10"	"3429"	"109"	"3429"	"109"	"c.3429+109T>A"	"r.(=)"	"p.(=)"	""	""
"0000251257"	"00018515"	"10"	"3396"	"109"	"3396"	"109"	"c.3396+109T>A"	"r.(=)"	"p.(=)"	""	""
"0000251258"	"00023858"	"10"	"2947"	"-5"	"2947"	"-5"	"c.2947-5T>A"	"r.spl?"	"p.?"	""	""
"0000251258"	"00018515"	"10"	"2914"	"-5"	"2914"	"-5"	"c.2914-5T>A"	"r.spl?"	"p.?"	""	""
"0000251259"	"00023858"	"10"	"2177"	"-11"	"2177"	"-11"	"c.2177-11del"	"r.(=)"	"p.(=)"	""	""
"0000251259"	"00018515"	"10"	"2144"	"-11"	"2144"	"-11"	"c.2144-11del"	"r.(=)"	"p.(=)"	""	""
"0000251260"	"00023858"	"10"	"2044"	"-5"	"2044"	"-5"	"c.2044-5T>C"	"r.spl?"	"p.?"	""	""
"0000251260"	"00018515"	"10"	"2011"	"-5"	"2011"	"-5"	"c.2011-5T>C"	"r.spl?"	"p.?"	""	""
"0000251261"	"00023858"	"10"	"2044"	"-6"	"2044"	"-6"	"c.2044-6T>A"	"r.(=)"	"p.(=)"	""	""
"0000251261"	"00018515"	"10"	"2011"	"-6"	"2011"	"-6"	"c.2011-6T>A"	"r.(=)"	"p.(=)"	""	""
"0000251262"	"00023858"	"10"	"694"	"233"	"694"	"233"	"c.694+233T>A"	"r.(=)"	"p.(=)"	""	""
"0000251262"	"00018515"	"10"	"694"	"233"	"694"	"233"	"c.694+233T>A"	"r.(=)"	"p.(=)"	""	""
"0000251263"	"00023858"	"10"	"694"	"227"	"694"	"227"	"c.694+227T>G"	"r.(=)"	"p.(=)"	""	""
"0000251263"	"00018515"	"10"	"694"	"227"	"694"	"227"	"c.694+227T>G"	"r.(=)"	"p.(=)"	""	""
"0000251768"	"00023858"	"30"	"4923"	"0"	"4923"	"0"	"c.4923T>C"	"r.(?)"	"p.(Ala1641=)"	""	""
"0000251768"	"00018515"	"30"	"4890"	"0"	"4890"	"0"	"c.4890T>C"	"r.(?)"	"p.(Ala1630=)"	""	""
"0000251769"	"00023858"	"30"	"4743"	"0"	"4743"	"0"	"c.4743T>C"	"r.(?)"	"p.(Ile1581=)"	""	""
"0000251769"	"00018515"	"30"	"4710"	"0"	"4710"	"0"	"c.4710T>C"	"r.(?)"	"p.(Ile1570=)"	""	""
"0000251770"	"00023858"	"30"	"4731"	"0"	"4731"	"0"	"c.4731T>C"	"r.(?)"	"p.(Asn1577=)"	""	""
"0000251770"	"00018515"	"30"	"4698"	"0"	"4698"	"0"	"c.4698T>C"	"r.(?)"	"p.(Asn1566=)"	""	""
"0000251771"	"00023858"	"30"	"3726"	"0"	"3726"	"0"	"c.3726T>C"	"r.(?)"	"p.(Ile1242=)"	""	""
"0000251771"	"00018515"	"30"	"3693"	"0"	"3693"	"0"	"c.3693T>C"	"r.(?)"	"p.(Ile1231=)"	""	""
"0000251772"	"00023858"	"30"	"2889"	"0"	"2889"	"0"	"c.2889T>C"	"r.(?)"	"p.(Ala963=)"	""	""
"0000251772"	"00018515"	"30"	"2856"	"0"	"2856"	"0"	"c.2856T>C"	"r.(?)"	"p.(Ala952=)"	""	""
"0000251934"	"00023858"	"50"	"468"	"0"	"468"	"0"	"c.468T>G"	"r.(?)"	"p.(Asn156Lys)"	""	""
"0000251934"	"00018515"	"50"	"468"	"0"	"468"	"0"	"c.468T>G"	"r.(?)"	"p.(Asn156Lys)"	""	""
"0000252044"	"00023858"	"30"	"4581"	"174"	"4581"	"174"	"c.4581+174del"	"r.(=)"	"p.(=)"	""	""
"0000252044"	"00018515"	"30"	"4548"	"174"	"4548"	"174"	"c.4548+174del"	"r.(=)"	"p.(=)"	""	""
"0000252045"	"00023858"	"30"	"4003"	"-69"	"4003"	"-69"	"c.4003-69T>C"	"r.(=)"	"p.(=)"	""	""
"0000252045"	"00018515"	"30"	"3970"	"-69"	"3970"	"-69"	"c.3970-69T>C"	"r.(=)"	"p.(=)"	""	""
"0000252046"	"00023858"	"30"	"3880"	"-141"	"3880"	"-141"	"c.3880-141T>A"	"r.(=)"	"p.(=)"	""	""
"0000252046"	"00018515"	"30"	"3847"	"-141"	"3847"	"-141"	"c.3847-141T>A"	"r.(=)"	"p.(=)"	""	""
"0000252047"	"00023858"	"30"	"3429"	"108"	"3429"	"108"	"c.3429+108T>A"	"r.(=)"	"p.(=)"	""	""
"0000252047"	"00018515"	"30"	"3396"	"108"	"3396"	"108"	"c.3396+108T>A"	"r.(=)"	"p.(=)"	""	""
"0000252048"	"00023858"	"30"	"2177"	"-12"	"2177"	"-12"	"c.2177-12T>C"	"r.(=)"	"p.(=)"	""	""
"0000252048"	"00018515"	"30"	"2144"	"-12"	"2144"	"-12"	"c.2144-12T>C"	"r.(=)"	"p.(=)"	""	""
"0000252049"	"00023858"	"30"	"2044"	"-27"	"2044"	"-27"	"c.2044-27T>A"	"r.(=)"	"p.(=)"	""	""
"0000252049"	"00018515"	"30"	"2011"	"-27"	"2011"	"-27"	"c.2011-27T>A"	"r.(=)"	"p.(=)"	""	""
"0000252050"	"00023858"	"30"	"2043"	"42"	"2043"	"42"	"c.2043+42T>A"	"r.(=)"	"p.(=)"	""	""
"0000252050"	"00018515"	"30"	"2010"	"75"	"2010"	"75"	"c.2010+75T>A"	"r.(=)"	"p.(=)"	""	""
"0000252051"	"00023858"	"30"	"695"	"-4"	"695"	"-4"	"c.695-4del"	"r.spl?"	"p.?"	""	""
"0000252051"	"00018515"	"30"	"695"	"-4"	"695"	"-4"	"c.695-4del"	"r.spl?"	"p.?"	""	""
"0000252052"	"00023858"	"30"	"474"	"-113"	"474"	"-113"	"c.474-113T>C"	"r.(=)"	"p.(=)"	""	""
"0000252052"	"00018515"	"30"	"474"	"-113"	"474"	"-113"	"c.474-113T>C"	"r.(=)"	"p.(=)"	""	""
"0000252368"	"00023858"	"70"	"535"	"0"	"535"	"0"	"c.535T>A"	"r.(?)"	"p.(Cys179Ser)"	""	""
"0000252368"	"00018515"	"70"	"535"	"0"	"535"	"0"	"c.535T>A"	"r.(?)"	"p.(Cys179Ser)"	""	""
"0000252378"	"00023858"	"70"	"3788"	"0"	"3788"	"0"	"c.3788T>G"	"r.(?)"	"p.(Phe1263Cys)"	""	""
"0000252378"	"00018515"	"70"	"3755"	"0"	"3755"	"0"	"c.3755T>G"	"r.(?)"	"p.(Phe1252Cys)"	""	""
"0000252389"	"00023858"	"70"	"365"	"0"	"365"	"0"	"c.365T>C"	"r.(?)"	"p.(Ile122Thr)"	""	""
"0000252389"	"00018515"	"70"	"365"	"0"	"365"	"0"	"c.365T>C"	"r.(?)"	"p.(Ile122Thr)"	""	""
"0000252395"	"00023858"	"70"	"3926"	"0"	"3926"	"0"	"c.3926T>G"	"r.(?)"	"p.(Leu1309Arg)"	""	""
"0000252395"	"00018515"	"70"	"3893"	"0"	"3893"	"0"	"c.3893T>G"	"r.(?)"	"p.(Leu1298Arg)"	""	""
"0000252403"	"00023858"	"70"	"1301"	"0"	"1301"	"0"	"c.1301T>A"	"r.(?)"	"p.(Leu434Ter)"	""	""
"0000252403"	"00018515"	"70"	"1301"	"0"	"1301"	"0"	"c.1301T>A"	"r.(?)"	"p.(Leu434Ter)"	""	""
"0000252413"	"00023858"	"70"	"5111"	"0"	"5111"	"0"	"c.5111T>A"	"r.(?)"	"p.(Met1704Lys)"	""	""
"0000252413"	"00018515"	"70"	"5078"	"0"	"5078"	"0"	"c.5078T>A"	"r.(?)"	"p.(Met1693Lys)"	""	""
"0000252493"	"00023858"	"90"	"5422"	"0"	"5422"	"0"	"c.5422T>C"	"r.(?)"	"p.(Phe1808Leu)"	""	""
"0000252493"	"00018515"	"90"	"5389"	"0"	"5389"	"0"	"c.5389T>C"	"r.(?)"	"p.(Phe1797Leu)"	""	""
"0000252535"	"00023858"	"90"	"5150"	"0"	"5150"	"0"	"c.5150T>C"	"r.(?)"	"p.(Leu1717Pro)"	""	""
"0000252535"	"00018515"	"90"	"5117"	"0"	"5117"	"0"	"c.5117T>C"	"r.(?)"	"p.(Leu1706Pro)"	""	""
"0000252536"	"00023858"	"90"	"5201"	"0"	"5201"	"0"	"c.5201T>C"	"r.(?)"	"p.(Leu1734Pro)"	""	""
"0000252536"	"00018515"	"90"	"5168"	"0"	"5168"	"0"	"c.5168T>C"	"r.(?)"	"p.(Leu1723Pro)"	""	""
"0000252585"	"00023858"	"90"	"608"	"0"	"608"	"0"	"c.608T>A"	"r.(?)"	"p.(Val203Asp)"	""	""
"0000252585"	"00018515"	"90"	"608"	"0"	"608"	"0"	"c.608T>A"	"r.(?)"	"p.(Val203Asp)"	""	""
"0000252590"	"00023858"	"90"	"1150"	"0"	"1150"	"0"	"c.1150T>C"	"r.(?)"	"p.(Trp384Arg)"	""	""
"0000252590"	"00018515"	"90"	"1150"	"0"	"1150"	"0"	"c.1150T>C"	"r.(?)"	"p.(Trp384Arg)"	""	""
"0000252592"	"00023858"	"90"	"4266"	"0"	"4266"	"0"	"c.4266T>A"	"r.(?)"	"p.(Tyr1422Ter)"	""	""
"0000252592"	"00018515"	"90"	"4233"	"0"	"4233"	"0"	"c.4233T>A"	"r.(?)"	"p.(Tyr1411Ter)"	""	""
"0000253975"	"00023858"	"30"	"2044"	"-5"	"2044"	"-5"	"c.2044-5del"	"r.spl?"	"p.?"	""	""
"0000253975"	"00018515"	"30"	"2011"	"-5"	"2011"	"-5"	"c.2011-5del"	"r.spl?"	"p.?"	""	""
"0000255152"	"00023858"	"30"	"495"	"0"	"495"	"0"	"c.495T>C"	"r.(?)"	"p.(Tyr165=)"	""	""
"0000255152"	"00018515"	"30"	"495"	"0"	"495"	"0"	"c.495T>C"	"r.(?)"	"p.(Tyr165=)"	""	""
"0000297918"	"00023858"	"50"	"1042"	"0"	"1042"	"0"	"c.1042G>A"	"r.(?)"	"p.(Gly348Arg)"	""	""
"0000297918"	"00018515"	"50"	"1042"	"0"	"1042"	"0"	"c.1042G>A"	"r.(?)"	"p.(Gly348Arg)"	""	""
"0000297919"	"00023858"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000297919"	"00018515"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000297920"	"00023858"	"10"	"1212"	"0"	"1212"	"0"	"c.1212A>G"	"r.(?)"	"p.(Val404=)"	""	""
"0000297920"	"00018515"	"10"	"1212"	"0"	"1212"	"0"	"c.1212A>G"	"r.(?)"	"p.(Val404=)"	""	""
"0000297921"	"00023858"	"30"	"2177"	"-10"	"2177"	"-10"	"c.2177-10C>T"	"r.(=)"	"p.(=)"	""	""
"0000297921"	"00018515"	"30"	"2144"	"-10"	"2144"	"-10"	"c.2144-10C>T"	"r.(=)"	"p.(=)"	""	""
"0000297923"	"00023858"	"70"	"2407"	"0"	"2407"	"0"	"c.2407G>A"	"r.(?)"	"p.(Gly803Arg)"	""	""
"0000297923"	"00018515"	"70"	"2374"	"0"	"2374"	"0"	"c.2374G>A"	"r.(?)"	"p.(Gly792Arg)"	""	""
"0000297924"	"00023858"	"10"	"2589"	"18"	"2589"	"19"	"c.2589+18_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000297924"	"00018515"	"10"	"2556"	"18"	"2556"	"19"	"c.2556+18_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000297925"	"00023858"	"30"	"2589"	"19"	"2589"	"19"	"c.2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000297925"	"00018515"	"30"	"2556"	"19"	"2556"	"19"	"c.2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000297926"	"00023858"	"10"	"3199"	"0"	"3199"	"0"	"c.3199G>A"	"r.(?)"	"p.(Ala1067Thr)"	""	""
"0000297926"	"00018515"	"10"	"3166"	"0"	"3166"	"0"	"c.3166G>A"	"r.(?)"	"p.(Ala1056Thr)"	""	""
"0000297927"	"00023858"	"50"	"3220"	"0"	"3220"	"0"	"c.3220G>A"	"r.(?)"	"p.(Asp1074Asn)"	""	""
"0000297927"	"00018515"	"50"	"3187"	"0"	"3187"	"0"	"c.3187G>A"	"r.(?)"	"p.(Asp1063Asn)"	""	""
"0000297928"	"00023858"	"90"	"3550"	"0"	"3550"	"2"	"c.3550_3550+2del"	"r.spl?"	"p.?"	""	""
"0000297928"	"00018515"	"90"	"3517"	"0"	"3517"	"2"	"c.3517_3517+2del"	"r.spl?"	"p.?"	""	""
"0000297929"	"00023858"	"30"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000297929"	"00018515"	"30"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000297930"	"00023858"	"30"	"4723"	"0"	"4723"	"0"	"c.4723C>T"	"r.(?)"	"p.(Arg1575Cys)"	""	""
"0000297930"	"00018515"	"30"	"4690"	"0"	"4690"	"0"	"c.4690C>T"	"r.(?)"	"p.(Arg1564Cys)"	""	""
"0000297931"	"00023858"	"30"	"4887"	"0"	"4887"	"0"	"c.4887C>T"	"r.(?)"	"p.(Phe1629=)"	""	""
"0000297931"	"00018515"	"30"	"4854"	"0"	"4854"	"0"	"c.4854C>T"	"r.(?)"	"p.(Phe1618=)"	""	""
"0000297932"	"00023858"	"10"	"5418"	"0"	"5418"	"0"	"c.5418G>A"	"r.(?)"	"p.(Glu1806=)"	""	""
"0000297932"	"00018515"	"10"	"5385"	"0"	"5385"	"0"	"c.5385G>A"	"r.(?)"	"p.(Glu1795=)"	""	""
"0000299352"	"00023858"	"50"	"1477"	"0"	"1477"	"0"	"c.1477A>C"	"r.(?)"	"p.(Ser493Arg)"	""	""
"0000299352"	"00018515"	"50"	"1477"	"0"	"1477"	"0"	"c.1477A>C"	"r.(?)"	"p.(Ser493Arg)"	""	""
"0000301661"	"00023858"	"30"	"-61"	"0"	"-61"	"0"	"c.-61C>A"	"r.(?)"	"p.(=)"	""	""
"0000301661"	"00018515"	"30"	"-61"	"0"	"-61"	"0"	"c.-61C>A"	"r.(?)"	"p.(=)"	""	""
"0000301663"	"00023858"	"30"	"6243"	"0"	"6243"	"0"	"c.*213G>A"	"r.(=)"	"p.(=)"	""	""
"0000301663"	"00018515"	"30"	"6210"	"0"	"6210"	"0"	"c.*213G>A"	"r.(=)"	"p.(=)"	""	""
"0000301664"	"00023858"	"30"	"1028"	"112"	"1028"	"112"	"c.1028+112C>A"	"r.(=)"	"p.(=)"	""	""
"0000301664"	"00018515"	"30"	"1028"	"112"	"1028"	"112"	"c.1028+112C>A"	"r.(=)"	"p.(=)"	""	""
"0000301665"	"00023858"	"30"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(?)"	"p.(Arg377=)"	""	""
"0000301665"	"00018515"	"30"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(?)"	"p.(Arg377=)"	""	""
"0000301666"	"00023858"	"30"	"1170"	"113"	"1170"	"113"	"c.1170+113G>A"	"r.(=)"	"p.(=)"	""	""
"0000301666"	"00018515"	"30"	"1170"	"113"	"1170"	"113"	"c.1170+113G>A"	"r.(=)"	"p.(=)"	""	""
"0000301667"	"00023858"	"30"	"1170"	"16"	"1170"	"16"	"c.1170+16C>T"	"r.(=)"	"p.(=)"	""	""
"0000301667"	"00018515"	"30"	"1170"	"16"	"1170"	"16"	"c.1170+16C>T"	"r.(=)"	"p.(=)"	""	""
"0000301668"	"00023858"	"30"	"1170"	"76"	"1170"	"76"	"c.1170+76C>T"	"r.(=)"	"p.(=)"	""	""
"0000301668"	"00018515"	"30"	"1170"	"76"	"1170"	"76"	"c.1170+76C>T"	"r.(=)"	"p.(=)"	""	""
"0000301669"	"00023858"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000301669"	"00018515"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000301670"	"00023858"	"10"	"1171"	"-8"	"1171"	"-7"	"c.1171-8_1171-7del"	"r.(=)"	"p.(=)"	""	""
"0000301670"	"00018515"	"10"	"1171"	"-8"	"1171"	"-7"	"c.1171-8_1171-7del"	"r.(=)"	"p.(=)"	""	""
"0000301671"	"00023858"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Gly396Trp)"	""	""
"0000301671"	"00018515"	"90"	"1186"	"0"	"1186"	"0"	"c.1186G>T"	"r.(?)"	"p.(Gly396Trp)"	""	""
"0000301672"	"00023858"	"70"	"1272"	"0"	"1272"	"0"	"c.1272G>T"	"r.(?)"	"p.(Met424Ile)"	""	""
"0000301672"	"00018515"	"70"	"1272"	"0"	"1272"	"0"	"c.1272G>T"	"r.(?)"	"p.(Met424Ile)"	""	""
"0000301673"	"00023858"	"90"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Gln429Ter)"	""	""
"0000301673"	"00018515"	"90"	"1285"	"0"	"1285"	"0"	"c.1285C>T"	"r.(?)"	"p.(Gln429Ter)"	""	""
"0000301674"	"00023858"	"10"	"1378"	"-152"	"1378"	"-152"	"c.1378-152del"	"r.(=)"	"p.(=)"	""	""
"0000301674"	"00018515"	"10"	"1378"	"-152"	"1378"	"-152"	"c.1378-152del"	"r.(=)"	"p.(=)"	""	""
"0000301675"	"00023858"	"30"	"1662"	"55"	"1662"	"56"	"c.1662+55_1662+56del"	"r.(=)"	"p.(=)"	""	""
"0000301675"	"00018515"	"30"	"1662"	"55"	"1662"	"56"	"c.1662+55_1662+56del"	"r.(=)"	"p.(=)"	""	""
"0000301676"	"00023858"	"10"	"1662"	"9"	"1662"	"9"	"c.1662+9C>A"	"r.(=)"	"p.(=)"	""	""
"0000301676"	"00018515"	"10"	"1662"	"9"	"1662"	"9"	"c.1662+9C>A"	"r.(=)"	"p.(=)"	""	""
"0000301677"	"00023858"	"90"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568Ter)"	""	""
"0000301677"	"00018515"	"90"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568Ter)"	""	""
"0000301678"	"00023858"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000301678"	"00018515"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000301679"	"00023858"	"10"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(Ser607=)"	""	""
"0000301679"	"00018515"	"10"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(Ser607=)"	""	""
"0000301680"	"00023858"	"90"	"1837"	"0"	"1837"	"0"	"c.1837C>T"	"r.(?)"	"p.(Arg613Ter)"	""	""
"0000301680"	"00018515"	"90"	"1837"	"0"	"1837"	"0"	"c.1837C>T"	"r.(?)"	"p.(Arg613Ter)"	""	""
"0000301681"	"00023858"	"30"	"1842"	"0"	"1842"	"0"	"c.1842C>T"	"r.(?)"	"p.(His614=)"	""	""
"0000301681"	"00018515"	"30"	"1842"	"0"	"1842"	"0"	"c.1842C>T"	"r.(?)"	"p.(His614=)"	""	""
"0000301682"	"00023858"	"30"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.(?)"	"p.(Ala637Val)"	""	""
"0000301682"	"00018515"	"30"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.(?)"	"p.(Ala637Val)"	""	""
"0000301683"	"00023858"	"30"	"2008"	"0"	"2008"	"0"	"c.2008G>C"	"r.(?)"	"p.(Glu670Gln)"	""	""
"0000301683"	"00018515"	"30"	"2008"	"0"	"2008"	"0"	"c.2008G>C"	"r.(?)"	"p.(Glu670Gln)"	""	""
"0000301684"	"00023858"	"30"	"2043"	"107"	"2043"	"107"	"c.2043+107G>A"	"r.(=)"	"p.(=)"	""	""
"0000301684"	"00018515"	"30"	"2010"	"140"	"2010"	"140"	"c.2010+140G>A"	"r.(=)"	"p.(=)"	""	""
"0000301685"	"00023858"	"90"	"2113"	"0"	"2113"	"0"	"c.2113G>T"	"r.(?)"	"p.(Glu705Ter)"	""	""
"0000301685"	"00018515"	"90"	"2080"	"0"	"2080"	"0"	"c.2080G>T"	"r.(?)"	"p.(Glu694Ter)"	""	""
"0000301686"	"00023858"	"10"	"2176"	"17"	"2176"	"17"	"c.2176+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000301686"	"00018515"	"10"	"2143"	"17"	"2143"	"17"	"c.2143+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000301687"	"00023858"	"30"	"2176"	"44"	"2176"	"44"	"c.2176+44C>T"	"r.(=)"	"p.(=)"	""	""
"0000301687"	"00018515"	"30"	"2143"	"44"	"2143"	"44"	"c.2143+44C>T"	"r.(=)"	"p.(=)"	""	""
"0000301688"	"00023858"	"10"	"2177"	"-12"	"2177"	"-11"	"c.2177-12_2177-11del"	"r.(=)"	"p.(=)"	""	""
"0000301688"	"00018515"	"10"	"2144"	"-12"	"2144"	"-11"	"c.2144-12_2144-11del"	"r.(=)"	"p.(=)"	""	""
"0000301689"	"00023858"	"30"	"2177"	"-11"	"2177"	"-11"	"c.2177-11dup"	"r.(=)"	"p.(=)"	""	""
"0000301689"	"00018515"	"30"	"2144"	"-11"	"2144"	"-11"	"c.2144-11dup"	"r.(=)"	"p.(=)"	""	""
"0000301690"	"00023858"	"90"	"2576"	"0"	"2576"	"0"	"c.2576G>A"	"r.(?)"	"p.(Arg859His)"	""	""
"0000301690"	"00018515"	"90"	"2543"	"0"	"2543"	"0"	"c.2543G>A"	"r.(?)"	"p.(Arg848His)"	""	""
"0000301691"	"00023858"	"30"	"2589"	"16"	"2589"	"19"	"c.2589+16_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000301691"	"00018515"	"30"	"2556"	"16"	"2556"	"19"	"c.2556+16_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000301692"	"00023858"	"30"	"2589"	"19"	"2589"	"19"	"c.2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000301692"	"00018515"	"30"	"2556"	"19"	"2556"	"19"	"c.2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000301693"	"00023858"	"90"	"2589"	"3"	"2589"	"3"	"c.2589+3A>T"	"r.spl?"	"p.?"	""	""
"0000301693"	"00018515"	"90"	"2556"	"3"	"2556"	"3"	"c.2556+3A>T"	"r.spl?"	"p.?"	""	""
"0000301694"	"00023858"	"90"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Ter)"	""	""
"0000301694"	"00018515"	"90"	"2560"	"0"	"2560"	"0"	"c.2560C>T"	"r.(?)"	"p.(Arg854Ter)"	""	""
"0000301695"	"00023858"	"90"	"2791"	"0"	"2791"	"0"	"c.2791C>T"	"r.(?)"	"p.(Arg931Cys)"	""	""
"0000301695"	"00018515"	"90"	"2758"	"0"	"2758"	"0"	"c.2758C>T"	"r.(?)"	"p.(Arg920Cys)"	""	""
"0000301696"	"00023858"	"90"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""	""
"0000301696"	"00018515"	"90"	"2804"	"0"	"2804"	"0"	"c.2804G>A"	"r.(?)"	"p.(Arg935His)"	""	""
"0000301698"	"00023858"	"10"	"2946"	"120"	"2946"	"120"	"c.2946+120dup"	"r.(=)"	"p.(=)"	""	""
"0000301698"	"00018515"	"10"	"2913"	"120"	"2913"	"120"	"c.2913+120dup"	"r.(=)"	"p.(=)"	""	""
"0000301700"	"00023858"	"30"	"2946"	"120"	"2946"	"120"	"c.2946+120del"	"r.(=)"	"p.(=)"	""	""
"0000301700"	"00018515"	"30"	"2913"	"120"	"2913"	"120"	"c.2913+120del"	"r.(=)"	"p.(=)"	""	""
"0000301702"	"00023858"	"30"	"2946"	"77"	"2946"	"77"	"c.2946+77A>G"	"r.(=)"	"p.(=)"	""	""
"0000301702"	"00018515"	"30"	"2913"	"77"	"2913"	"77"	"c.2913+77A>G"	"r.(=)"	"p.(=)"	""	""
"0000301703"	"00023858"	"30"	"2947"	"-125"	"2947"	"-125"	"c.2947-125G>T"	"r.(=)"	"p.(=)"	""	""
"0000301703"	"00018515"	"30"	"2914"	"-125"	"2914"	"-125"	"c.2914-125G>T"	"r.(=)"	"p.(=)"	""	""
"0000301704"	"00023858"	"90"	"2965"	"0"	"2965"	"0"	"c.2965G>C"	"r.(?)"	"p.(Ala989Pro)"	""	""
"0000301704"	"00018515"	"90"	"2932"	"0"	"2932"	"0"	"c.2932G>C"	"r.(?)"	"p.(Ala978Pro)"	""	""
"0000301705"	"00023858"	"90"	"301"	"0"	"301"	"0"	"c.301C>T"	"r.(?)"	"p.(Arg101Trp)"	""	""
"0000301705"	"00018515"	"90"	"301"	"0"	"301"	"0"	"c.301C>T"	"r.(?)"	"p.(Arg101Trp)"	""	""
"0000301706"	"00023858"	"90"	"3361"	"0"	"3361"	"0"	"c.3361G>T"	"r.(?)"	"p.(Glu1121Ter)"	""	""
"0000301706"	"00018515"	"90"	"3328"	"0"	"3328"	"0"	"c.3328G>T"	"r.(?)"	"p.(Glu1110Ter)"	""	""
"0000301707"	"00023858"	"30"	"3403"	"0"	"3403"	"0"	"c.3403G>A"	"r.(?)"	"p.(Glu1135Lys)"	""	""
"0000301707"	"00018515"	"30"	"3370"	"0"	"3370"	"0"	"c.3370G>A"	"r.(?)"	"p.(Glu1124Lys)"	""	""
"0000301708"	"00023858"	"30"	"3429"	"111"	"3429"	"113"	"c.3429+111_3429+113del"	"r.(=)"	"p.(=)"	""	""
"0000301708"	"00018515"	"30"	"3396"	"111"	"3396"	"113"	"c.3396+111_3396+113del"	"r.(=)"	"p.(=)"	""	""
"0000301710"	"00023858"	"30"	"3429"	"110"	"3429"	"113"	"c.3429+110_3429+113del"	"r.(=)"	"p.(=)"	""	""
"0000301710"	"00018515"	"30"	"3396"	"110"	"3396"	"113"	"c.3396+110_3396+113del"	"r.(=)"	"p.(=)"	""	""
"0000301711"	"00023858"	"30"	"3429"	"109"	"3429"	"113"	"c.3429+109_3429+113del"	"r.(=)"	"p.(=)"	""	""
"0000301711"	"00018515"	"30"	"3396"	"109"	"3396"	"113"	"c.3396+109_3396+113del"	"r.(=)"	"p.(=)"	""	""
"0000301717"	"00023858"	"70"	"3430"	"-3"	"3430"	"-3"	"c.3430-3C>G"	"r.spl?"	"p.?"	""	""
"0000301717"	"00018515"	"70"	"3397"	"-3"	"3397"	"-3"	"c.3397-3C>G"	"r.spl?"	"p.?"	""	""
"0000301718"	"00023858"	"90"	"352"	"0"	"352"	"0"	"c.352A>G"	"r.(?)"	"p.(Arg118Gly)"	""	""
"0000301718"	"00018515"	"90"	"352"	"0"	"352"	"0"	"c.352A>G"	"r.(?)"	"p.(Arg118Gly)"	""	""
"0000301719"	"00023858"	"30"	"3551"	"-67"	"3551"	"-67"	"c.3551-67G>A"	"r.(=)"	"p.(=)"	""	""
"0000301719"	"00018515"	"30"	"3518"	"-67"	"3518"	"-67"	"c.3518-67G>A"	"r.(=)"	"p.(=)"	""	""
"0000301720"	"00023858"	"90"	"3637"	"0"	"3637"	"0"	"c.3637C>T"	"r.(?)"	"p.(Arg1213Ter)"	""	""
"0000301720"	"00018515"	"90"	"3604"	"0"	"3604"	"0"	"c.3604C>T"	"r.(?)"	"p.(Arg1202Ter)"	""	""
"0000301721"	"00023858"	"10"	"3705"	"55"	"3705"	"55"	"c.3705+55C>G"	"r.(=)"	"p.(=)"	""	""
"0000301721"	"00018515"	"10"	"3672"	"55"	"3672"	"55"	"c.3672+55C>G"	"r.(=)"	"p.(=)"	""	""
"0000301722"	"00023858"	"90"	"3715"	"0"	"3715"	"0"	"c.3715G>T"	"r.(?)"	"p.(Asp1239Tyr)"	""	""
"0000301722"	"00018515"	"90"	"3682"	"0"	"3682"	"0"	"c.3682G>T"	"r.(?)"	"p.(Asp1228Tyr)"	""	""
"0000301723"	"00023858"	"10"	"384"	"-20"	"384"	"-20"	"c.384-20G>C"	"r.(=)"	"p.(=)"	""	""
"0000301723"	"00018515"	"10"	"384"	"-20"	"384"	"-20"	"c.384-20G>C"	"r.(=)"	"p.(=)"	""	""
"0000301724"	"00023858"	"30"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000301724"	"00018515"	"30"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000301725"	"00023858"	"90"	"3986"	"0"	"3986"	"0"	"c.3986G>T"	"r.(?)"	"p.(Arg1329Leu)"	""	""
"0000301725"	"00018515"	"90"	"3953"	"0"	"3953"	"0"	"c.3953G>T"	"r.(?)"	"p.(Arg1318Leu)"	""	""
"0000301726"	"00023858"	"70"	"4096"	"0"	"4096"	"0"	"c.4096G>T"	"r.(?)"	"p.(Val1366Leu)"	""	""
"0000301726"	"00018515"	"70"	"4063"	"0"	"4063"	"0"	"c.4063G>T"	"r.(?)"	"p.(Val1355Leu)"	""	""
"0000301727"	"00023858"	"30"	"4284"	"98"	"4284"	"98"	"c.4284+98A>G"	"r.(=)"	"p.(=)"	""	""
"0000301727"	"00018515"	"30"	"4251"	"98"	"4251"	"98"	"c.4251+98A>G"	"r.(=)"	"p.(=)"	""	""
"0000301728"	"00023858"	"90"	"4285"	"-2"	"4285"	"-2"	"c.4285-2A>G"	"r.spl?"	"p.?"	""	""
"0000301728"	"00018515"	"90"	"4252"	"-2"	"4252"	"-2"	"c.4252-2A>G"	"r.spl?"	"p.?"	""	""
"0000301729"	"00023858"	"30"	"4285"	"-99"	"4285"	"-99"	"c.4285-99A>C"	"r.(=)"	"p.(=)"	""	""
"0000301729"	"00018515"	"30"	"4252"	"-99"	"4252"	"-99"	"c.4252-99A>C"	"r.(=)"	"p.(=)"	""	""
"0000301730"	"00023858"	"70"	"4289"	"0"	"4289"	"0"	"c.4289C>A"	"r.(?)"	"p.(Thr1430Lys)"	""	""
"0000301730"	"00018515"	"70"	"4256"	"0"	"4256"	"0"	"c.4256C>A"	"r.(?)"	"p.(Thr1419Lys)"	""	""
"0000301731"	"00023858"	"90"	"4298"	"0"	"4298"	"0"	"c.4298G>A"	"r.(?)"	"p.(Gly1433Glu)"	""	""
"0000301731"	"00018515"	"90"	"4265"	"0"	"4265"	"0"	"c.4265G>A"	"r.(?)"	"p.(Gly1422Glu)"	""	""
"0000301732"	"00023858"	"30"	"4299"	"0"	"4299"	"0"	"c.4299A>T"	"r.(?)"	"p.(Gly1433=)"	""	""
"0000301732"	"00018515"	"30"	"4266"	"0"	"4266"	"0"	"c.4266A>T"	"r.(?)"	"p.(Gly1422=)"	""	""
"0000301733"	"00023858"	"90"	"4328"	"0"	"4328"	"0"	"c.4328A>C"	"r.(?)"	"p.(Asp1443Ala)"	""	""
"0000301733"	"00018515"	"90"	"4295"	"0"	"4295"	"0"	"c.4295A>C"	"r.(?)"	"p.(Asp1432Ala)"	""	""
"0000301734"	"00023858"	"30"	"4339"	"-18"	"4339"	"-18"	"c.4339-18A>C"	"r.(=)"	"p.(=)"	""	""
"0000301734"	"00018515"	"30"	"4306"	"-18"	"4306"	"-18"	"c.4306-18A>C"	"r.(=)"	"p.(=)"	""	""
"0000301736"	"00023858"	"30"	"4476"	"4"	"4476"	"4"	"c.4476+4A>C"	"r.spl?"	"p.?"	""	""
"0000301736"	"00018515"	"30"	"4443"	"4"	"4443"	"4"	"c.4443+4A>C"	"r.spl?"	"p.?"	""	""
"0000301737"	"00023858"	"30"	"4477"	"-37"	"4477"	"-37"	"c.4477-37A>G"	"r.(=)"	"p.(=)"	""	""
"0000301737"	"00018515"	"30"	"4444"	"-37"	"4444"	"-37"	"c.4444-37A>G"	"r.(=)"	"p.(=)"	""	""
"0000301738"	"00023858"	"30"	"4477"	"-53"	"4477"	"-53"	"c.4477-53A>G"	"r.(=)"	"p.(=)"	""	""
"0000301738"	"00018515"	"30"	"4444"	"-53"	"4444"	"-53"	"c.4444-53A>G"	"r.(=)"	"p.(=)"	""	""
"0000301739"	"00023858"	"90"	"4547"	"0"	"4547"	"0"	"c.4547C>A"	"r.(?)"	"p.(Ser1516Ter)"	""	""
"0000301739"	"00018515"	"90"	"4514"	"0"	"4514"	"0"	"c.4514C>A"	"r.(?)"	"p.(Ser1505Ter)"	""	""
"0000301740"	"00023858"	"10"	"4551"	"0"	"4551"	"0"	"c.4551A>G"	"r.(?)"	"p.(Lys1517=)"	""	""
"0000301740"	"00018515"	"10"	"4518"	"0"	"4518"	"0"	"c.4518A>G"	"r.(?)"	"p.(Lys1506=)"	""	""
"0000301741"	"00023858"	"70"	"4552"	"0"	"4552"	"0"	"c.4552A>G"	"r.(?)"	"p.(Lys1518Glu)"	""	""
"0000301741"	"00018515"	"70"	"4519"	"0"	"4519"	"0"	"c.4519A>G"	"r.(?)"	"p.(Lys1507Glu)"	""	""
"0000301742"	"00023858"	"70"	"4555"	"0"	"4555"	"0"	"c.4555C>A"	"r.(?)"	"p.(Pro1519Thr)"	""	""
"0000301742"	"00018515"	"70"	"4522"	"0"	"4522"	"0"	"c.4522C>A"	"r.(?)"	"p.(Pro1508Thr)"	""	""
"0000301743"	"00023858"	"70"	"4555"	"0"	"4555"	"0"	"c.4555C>T"	"r.(?)"	"p.(Pro1519Ser)"	""	""
"0000301743"	"00018515"	"70"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Pro1508Ser)"	""	""
"0000301744"	"00023858"	"90"	"4573"	"0"	"4573"	"0"	"c.4573C>T"	"r.(?)"	"p.(Arg1525Ter)"	""	""
"0000301744"	"00018515"	"90"	"4540"	"0"	"4540"	"0"	"c.4540C>T"	"r.(?)"	"p.(Arg1514Ter)"	""	""
"0000301745"	"00023858"	"30"	"4581"	"34"	"4581"	"34"	"c.4581+34C>T"	"r.(=)"	"p.(=)"	""	""
"0000301745"	"00018515"	"30"	"4548"	"34"	"4548"	"34"	"c.4548+34C>T"	"r.(=)"	"p.(=)"	""	""
"0000301746"	"00023858"	"30"	"4582"	"-110"	"4582"	"-110"	"c.4582-110C>A"	"r.(=)"	"p.(=)"	""	""
"0000301746"	"00018515"	"30"	"4549"	"-110"	"4549"	"-110"	"c.4549-110C>A"	"r.(=)"	"p.(=)"	""	""
"0000301747"	"00023858"	"90"	"4757"	"0"	"4757"	"0"	"c.4757G>A"	"r.(?)"	"p.(Gly1586Glu)"	""	""
"0000301747"	"00018515"	"90"	"4724"	"0"	"4724"	"0"	"c.4724G>A"	"r.(?)"	"p.(Gly1575Glu)"	""	""
"0000301748"	"00023858"	"90"	"4786"	"0"	"4786"	"0"	"c.4786C>T"	"r.(?)"	"p.(Arg1596Cys)"	""	""
"0000301748"	"00018515"	"90"	"4753"	"0"	"4753"	"0"	"c.4753C>T"	"r.(?)"	"p.(Arg1585Cys)"	""	""
"0000301749"	"00023858"	"30"	"4872"	"0"	"4872"	"0"	"c.4872G>A"	"r.(?)"	"p.(Leu1624=)"	""	""
"0000301749"	"00018515"	"30"	"4839"	"0"	"4839"	"0"	"c.4839G>A"	"r.(?)"	"p.(Leu1613=)"	""	""
"0000301750"	"00023858"	"70"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Gly163Arg)"	""	""
"0000301750"	"00018515"	"70"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Gly163Arg)"	""	""
"0000301751"	"00023858"	"90"	"4933"	"0"	"4933"	"0"	"c.4933C>G"	"r.(?)"	"p.(Arg1645Gly)"	""	""
"0000301751"	"00018515"	"90"	"4900"	"0"	"4900"	"0"	"c.4900C>G"	"r.(?)"	"p.(Arg1634Gly)"	""	""
"0000301752"	"00023858"	"90"	"4933"	"0"	"4933"	"0"	"c.4933C>T"	"r.(?)"	"p.(Arg1645Ter)"	""	""
"0000301752"	"00018515"	"90"	"4900"	"0"	"4900"	"0"	"c.4900C>T"	"r.(?)"	"p.(Arg1634Ter)"	""	""
"0000301753"	"00023858"	"90"	"5016"	"0"	"5016"	"0"	"c.5016C>A"	"r.(?)"	"p.(Asn1672Lys)"	""	""
"0000301753"	"00018515"	"90"	"4983"	"0"	"4983"	"0"	"c.4983C>A"	"r.(?)"	"p.(Asn1661Lys)"	""	""
"0000301754"	"00023858"	"30"	"5020"	"0"	"5020"	"0"	"c.5020G>A"	"r.(?)"	"p.(Gly1674Ser)"	""	""
"0000301754"	"00018515"	"30"	"4987"	"0"	"4987"	"0"	"c.4987G>A"	"r.(?)"	"p.(Gly1663Ser)"	""	""
"0000301755"	"00023858"	"70"	"5062"	"0"	"5062"	"0"	"c.5062G>A"	"r.(?)"	"p.(Gly1688Arg)"	""	""
"0000301755"	"00018515"	"70"	"5029"	"0"	"5029"	"0"	"c.5029G>A"	"r.(?)"	"p.(Gly1677Arg)"	""	""
"0000301756"	"00023858"	"70"	"5318"	"0"	"5318"	"0"	"c.5318C>A"	"r.(?)"	"p.(Ser1773Tyr)"	""	""
"0000301756"	"00018515"	"70"	"5285"	"0"	"5285"	"0"	"c.5285C>A"	"r.(?)"	"p.(Ser1762Tyr)"	""	""
"0000301757"	"00023858"	"70"	"5332"	"0"	"5332"	"0"	"c.5332G>A"	"r.(?)"	"p.(Val1778Met)"	""	""
"0000301757"	"00018515"	"70"	"5299"	"0"	"5299"	"0"	"c.5299G>A"	"r.(?)"	"p.(Val1767Met)"	""	""
"0000301758"	"00023858"	"90"	"5348"	"0"	"5348"	"0"	"c.5348C>T"	"r.(?)"	"p.(Ala1783Val)"	""	""
"0000301758"	"00018515"	"90"	"5315"	"0"	"5315"	"0"	"c.5315C>T"	"r.(?)"	"p.(Ala1772Val)"	""	""
"0000301759"	"00023858"	"10"	"5418"	"0"	"5418"	"0"	"c.5418G>A"	"r.(?)"	"p.(Glu1806=)"	""	""
"0000301759"	"00018515"	"10"	"5385"	"0"	"5385"	"0"	"c.5385G>A"	"r.(?)"	"p.(Glu1795=)"	""	""
"0000301760"	"00023858"	"70"	"5564"	"0"	"5564"	"0"	"c.5564C>A"	"r.(?)"	"p.(Pro1855His)"	""	""
"0000301760"	"00018515"	"70"	"5531"	"0"	"5531"	"0"	"c.5531C>A"	"r.(?)"	"p.(Pro1844His)"	""	""
"0000301761"	"00023858"	"70"	"560"	"0"	"560"	"0"	"c.560G>C"	"r.(?)"	"p.(Arg187Pro)"	""	""
"0000301761"	"00018515"	"70"	"560"	"0"	"560"	"0"	"c.560G>C"	"r.(?)"	"p.(Arg187Pro)"	""	""
"0000301762"	"00023858"	"70"	"5620"	"0"	"5620"	"0"	"c.5620C>T"	"r.(?)"	"p.(Arg1874Trp)"	""	""
"0000301762"	"00018515"	"70"	"5587"	"0"	"5587"	"0"	"c.5587C>T"	"r.(?)"	"p.(Arg1863Trp)"	""	""
"0000301763"	"00023858"	"30"	"5951"	"0"	"5951"	"0"	"c.5951C>A"	"r.(?)"	"p.(Pro1984His)"	""	""
"0000301763"	"00018515"	"30"	"5918"	"0"	"5918"	"0"	"c.5918C>A"	"r.(?)"	"p.(Pro1973His)"	""	""
"0000301764"	"00023858"	"30"	"5984"	"0"	"5984"	"0"	"c.5984A>G"	"r.(?)"	"p.(Glu1995Gly)"	""	""
"0000301764"	"00018515"	"30"	"5951"	"0"	"5951"	"0"	"c.5951A>G"	"r.(?)"	"p.(Glu1984Gly)"	""	""
"0000301765"	"00023858"	"90"	"602"	"1"	"602"	"1"	"c.602+1G>C"	"r.spl?"	"p.?"	""	""
"0000301765"	"00018515"	"90"	"602"	"1"	"602"	"1"	"c.602+1G>C"	"r.spl?"	"p.?"	""	""
"0000301767"	"00023858"	"70"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Ala201Val)"	""	""
"0000301767"	"00018515"	"70"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Ala201Val)"	""	""
"0000301768"	"00023858"	"30"	"603"	"-107"	"603"	"-107"	"c.603-107C>T"	"r.(=)"	"p.(=)"	""	""
"0000301768"	"00018515"	"30"	"603"	"-107"	"603"	"-107"	"c.603-107C>T"	"r.(=)"	"p.(=)"	""	""
"0000301769"	"00023858"	"30"	"603"	"-143"	"603"	"-143"	"c.603-143G>A"	"r.(=)"	"p.(=)"	""	""
"0000301769"	"00018515"	"30"	"603"	"-143"	"603"	"-143"	"c.603-143G>A"	"r.(=)"	"p.(=)"	""	""
"0000301770"	"00023858"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000301770"	"00018515"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000301771"	"00023858"	"30"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ala23Val)"	""	""
"0000301771"	"00018515"	"30"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ala23Val)"	""	""
"0000301772"	"00023858"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000301772"	"00018515"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000301773"	"00023858"	"30"	"694"	"184"	"694"	"184"	"c.694+184G>A"	"r.(=)"	"p.(=)"	""	""
"0000301773"	"00018515"	"30"	"694"	"184"	"694"	"184"	"c.694+184G>A"	"r.(=)"	"p.(=)"	""	""
"0000301775"	"00023858"	"90"	"760"	"0"	"760"	"0"	"c.760A>C"	"r.(?)"	"p.(Thr254Pro)"	""	""
"0000301775"	"00018515"	"90"	"760"	"0"	"760"	"0"	"c.760A>C"	"r.(?)"	"p.(Thr254Pro)"	""	""
"0000301776"	"00023858"	"90"	"775"	"0"	"775"	"0"	"c.775A>C"	"r.(?)"	"p.(Ser259Arg)"	""	""
"0000301776"	"00018515"	"90"	"775"	"0"	"775"	"0"	"c.775A>C"	"r.(?)"	"p.(Ser259Arg)"	""	""
"0000301777"	"00023858"	"30"	"964"	"104"	"964"	"110"	"c.964+104_964+110del"	"r.(=)"	"p.(=)"	""	""
"0000301777"	"00018515"	"30"	"964"	"104"	"964"	"110"	"c.964+104_964+110del"	"r.(=)"	"p.(=)"	""	""
"0000301778"	"00023858"	"70"	"995"	"0"	"995"	"0"	"c.995A>G"	"r.(?)"	"p.(Asp332Gly)"	""	""
"0000301778"	"00018515"	"70"	"995"	"0"	"995"	"0"	"c.995A>G"	"r.(?)"	"p.(Asp332Gly)"	""	""
"0000307737"	"00023858"	"50"	"1489"	"0"	"1489"	"0"	"c.1489A>G"	"r.(?)"	"p.(Arg497Gly)"	""	""
"0000307737"	"00018515"	"50"	"1489"	"0"	"1489"	"0"	"c.1489A>G"	"r.(?)"	"p.(Arg497Gly)"	""	""
"0000307738"	"00023858"	"10"	"2177"	"-11"	"2177"	"-11"	"c.2177-11dup"	"r.(=)"	"p.(=)"	""	""
"0000307738"	"00018515"	"10"	"2144"	"-11"	"2144"	"-11"	"c.2144-11dup"	"r.(=)"	"p.(=)"	""	""
"0000307739"	"00023858"	"30"	"4945"	"0"	"4945"	"0"	"c.4945C>T"	"r.(?)"	"p.(Leu1649=)"	""	""
"0000307739"	"00018515"	"30"	"4912"	"0"	"4912"	"0"	"c.4912C>T"	"r.(?)"	"p.(Leu1638=)"	""	""
"0000307740"	"00023858"	"50"	"5609"	"0"	"5609"	"0"	"c.5609C>T"	"r.(?)"	"p.(Ala1870Val)"	""	""
"0000307740"	"00018515"	"50"	"5576"	"0"	"5576"	"0"	"c.5576C>T"	"r.(?)"	"p.(Ala1859Val)"	""	""
"0000307741"	"00023858"	"30"	"678"	"0"	"678"	"0"	"c.678G>A"	"r.(?)"	"p.(Thr226=)"	""	""
"0000307741"	"00018515"	"30"	"678"	"0"	"678"	"0"	"c.678G>A"	"r.(?)"	"p.(Thr226=)"	""	""
"0000327427"	"00023858"	"50"	"3922"	"0"	"3922"	"0"	"c.3922G>A"	"r.(?)"	"p.(Glu1308Lys)"	""	""
"0000327427"	"00018515"	"50"	"3889"	"0"	"3889"	"0"	"c.3889G>A"	"r.(?)"	"p.(Glu1297Lys)"	""	""
"0000327428"	"00023858"	"30"	"3899"	"0"	"3899"	"0"	"c.3899C>T"	"r.(?)"	"p.(Thr1300Ile)"	""	""
"0000327428"	"00018515"	"30"	"3866"	"0"	"3866"	"0"	"c.3866C>T"	"r.(?)"	"p.(Thr1289Ile)"	""	""
"0000327429"	"00023858"	"50"	"3481"	"0"	"3481"	"0"	"c.3481G>A"	"r.(?)"	"p.(Ala1161Thr)"	""	""
"0000327429"	"00018515"	"50"	"3448"	"0"	"3448"	"0"	"c.3448G>A"	"r.(?)"	"p.(Ala1150Thr)"	""	""
"0000327433"	"00023858"	"30"	"2177"	"-4"	"2177"	"-4"	"c.2177-4C>T"	"r.spl?"	"p.?"	""	""
"0000327433"	"00018515"	"30"	"2144"	"-4"	"2144"	"-4"	"c.2144-4C>T"	"r.spl?"	"p.?"	""	""
"0000327434"	"00023858"	"50"	"2177"	"-8"	"2177"	"-8"	"c.2177-8dup"	"r.(=)"	"p.(=)"	""	""
"0000327434"	"00018515"	"50"	"2144"	"-8"	"2144"	"-8"	"c.2144-8dup"	"r.(=)"	"p.(=)"	""	""
"0000327436"	"00023858"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000327436"	"00018515"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000327439"	"00023858"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000327439"	"00018515"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000337325"	"00023858"	"10"	"1662"	"9"	"1662"	"9"	"c.1662+9C>A"	"r.(=)"	"p.(=)"	""	""
"0000337325"	"00018515"	"10"	"1662"	"9"	"1662"	"9"	"c.1662+9C>A"	"r.(=)"	"p.(=)"	""	""
"0000337327"	"00023858"	"50"	"1029"	"-3"	"1029"	"-3"	"c.1029-3C>A"	"r.spl?"	"p.?"	""	""
"0000337327"	"00018515"	"50"	"1029"	"-3"	"1029"	"-3"	"c.1029-3C>A"	"r.spl?"	"p.?"	""	""
"0000339519"	"00023858"	"10"	"5418"	"0"	"5418"	"0"	"c.5418G>A"	"r.(?)"	"p.(Glu1806=)"	""	""
"0000339519"	"00018515"	"10"	"5385"	"0"	"5385"	"0"	"c.5385G>A"	"r.(?)"	"p.(Glu1795=)"	""	""
"0000339520"	"00023858"	"30"	"2976"	"0"	"2976"	"0"	"c.2976G>T"	"r.(?)"	"p.(Leu992=)"	""	""
"0000339520"	"00018515"	"30"	"2943"	"0"	"2943"	"0"	"c.2943G>T"	"r.(?)"	"p.(Leu981=)"	""	""
"0000339521"	"00023858"	"30"	"2421"	"0"	"2421"	"0"	"c.2421C>T"	"r.(?)"	"p.(Phe807=)"	""	""
"0000339521"	"00018515"	"30"	"2388"	"0"	"2388"	"0"	"c.2388C>T"	"r.(?)"	"p.(Phe796=)"	""	""
"0000339522"	"00023858"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000339522"	"00018515"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000340832"	"00023858"	"30"	"3886"	"0"	"3886"	"0"	"c.3886T>C"	"r.(?)"	"p.(Leu1296=)"	""	""
"0000340832"	"00018515"	"30"	"3853"	"0"	"3853"	"0"	"c.3853T>C"	"r.(?)"	"p.(Leu1285=)"	""	""
"0000341079"	"00023858"	"10"	"2176"	"17"	"2176"	"17"	"c.2176+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000341079"	"00018515"	"10"	"2143"	"17"	"2143"	"17"	"c.2143+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000341090"	"00023858"	"50"	"3044"	"0"	"3044"	"0"	"c.3044C>T"	"r.(?)"	"p.(Ala1015Val)"	""	""
"0000341090"	"00018515"	"50"	"3011"	"0"	"3011"	"0"	"c.3011C>T"	"r.(?)"	"p.(Ala1004Val)"	""	""
"0000341104"	"00023858"	"10"	"3199"	"0"	"3199"	"0"	"c.3199G>A"	"r.(?)"	"p.(Ala1067Thr)"	""	""
"0000341104"	"00018515"	"10"	"3166"	"0"	"3166"	"0"	"c.3166G>A"	"r.(?)"	"p.(Ala1056Thr)"	""	""
"0000341665"	"00023858"	"50"	"302"	"0"	"302"	"0"	"c.302G>T"	"r.(?)"	"p.(Arg101Leu)"	""	""
"0000341665"	"00018515"	"50"	"302"	"0"	"302"	"0"	"c.302G>T"	"r.(?)"	"p.(Arg101Leu)"	""	""
"0000341792"	"00023858"	"50"	"3638"	"0"	"3638"	"0"	"c.3638G>A"	"r.(?)"	"p.(Arg1213Gln)"	""	""
"0000341792"	"00018515"	"50"	"3605"	"0"	"3605"	"0"	"c.3605G>A"	"r.(?)"	"p.(Arg1202Gln)"	""	""
"0000341853"	"00023858"	"90"	"3985"	"0"	"3985"	"0"	"c.3985C>T"	"r.(?)"	"p.(Arg1329Ter)"	""	""
"0000341853"	"00018515"	"90"	"3952"	"0"	"3952"	"0"	"c.3952C>T"	"r.(?)"	"p.(Arg1318Ter)"	""	""
"0000341854"	"00023858"	"50"	"3986"	"0"	"3986"	"0"	"c.3986G>T"	"r.(?)"	"p.(Arg1329Leu)"	""	""
"0000341854"	"00018515"	"50"	"3953"	"0"	"3953"	"0"	"c.3953G>T"	"r.(?)"	"p.(Arg1318Leu)"	""	""
"0000342037"	"00023858"	"90"	"4943"	"0"	"4943"	"0"	"c.4943G>A"	"r.(?)"	"p.(Arg1648His)"	""	""
"0000342037"	"00018515"	"90"	"4910"	"0"	"4910"	"0"	"c.4910G>A"	"r.(?)"	"p.(Arg1637His)"	""	""
"0000342158"	"00023858"	"30"	"5782"	"0"	"5782"	"0"	"c.5782C>G"	"r.(?)"	"p.(Arg1928Gly)"	""	""
"0000342158"	"00018515"	"30"	"5749"	"0"	"5749"	"0"	"c.5749C>G"	"r.(?)"	"p.(Arg1917Gly)"	""	""
"0000342769"	"00023858"	"90"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Ter)"	""	""
"0000342769"	"00018515"	"90"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Ter)"	""	""
"0000342799"	"00023858"	"90"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393His)"	""	""
"0000342799"	"00018515"	"90"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393His)"	""	""
"0000343165"	"00023858"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000343165"	"00018515"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000343435"	"00023858"	"90"	"2584"	"0"	"2584"	"0"	"c.2584C>T"	"r.(?)"	"p.(Arg862Ter)"	""	""
"0000343435"	"00018515"	"90"	"2551"	"0"	"2551"	"0"	"c.2551C>T"	"r.(?)"	"p.(Arg851Ter)"	""	""
"0000343494"	"00023858"	"70"	"2792"	"0"	"2792"	"0"	"c.2792G>A"	"r.(?)"	"p.(Arg931His)"	""	""
"0000343494"	"00018515"	"70"	"2759"	"0"	"2759"	"0"	"c.2759G>A"	"r.(?)"	"p.(Arg920His)"	""	""
"0000343502"	"00023858"	"90"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""	""
"0000343502"	"00018515"	"90"	"2804"	"0"	"2804"	"0"	"c.2804G>A"	"r.(?)"	"p.(Arg935His)"	""	""
"0000343600"	"00023858"	"50"	"421"	"0"	"421"	"0"	"c.421A>T"	"r.(?)"	"p.(Asn141Tyr)"	""	""
"0000343600"	"00018515"	"50"	"421"	"0"	"421"	"0"	"c.421A>T"	"r.(?)"	"p.(Asn141Tyr)"	""	""
"0000343625"	"00023858"	"10"	"5364"	"0"	"5364"	"0"	"c.5364C>A"	"r.(?)"	"p.(Asn1788Lys)"	""	""
"0000343625"	"00018515"	"10"	"5331"	"0"	"5331"	"0"	"c.5331C>A"	"r.(?)"	"p.(Asn1777Lys)"	""	""
"0000343979"	"00023858"	"70"	"580"	"0"	"580"	"0"	"c.580G>C"	"r.(?)"	"p.(Asp194His)"	""	""
"0000343979"	"00018515"	"70"	"580"	"0"	"580"	"0"	"c.580G>C"	"r.(?)"	"p.(Asp194His)"	""	""
"0000344219"	"00023858"	"70"	"2993"	"0"	"2993"	"0"	"c.2993A>G"	"r.(?)"	"p.(Asp998Gly)"	""	""
"0000344219"	"00018515"	"70"	"2960"	"0"	"2960"	"0"	"c.2960A>G"	"r.(?)"	"p.(Asp987Gly)"	""	""
"0000344369"	"00023858"	"90"	"1053"	"0"	"1053"	"0"	"c.1053T>A"	"r.(?)"	"p.(Cys351Ter)"	""	""
"0000344369"	"00018515"	"90"	"1053"	"0"	"1053"	"0"	"c.1053T>A"	"r.(?)"	"p.(Cys351Ter)"	""	""
"0000345108"	"00023858"	"50"	"3922"	"0"	"3922"	"0"	"c.3922G>A"	"r.(?)"	"p.(Glu1308Lys)"	""	""
"0000345108"	"00018515"	"50"	"3889"	"0"	"3889"	"0"	"c.3889G>A"	"r.(?)"	"p.(Glu1297Lys)"	""	""
"0000345198"	"00023858"	"90"	"5476"	"0"	"5476"	"0"	"c.5476G>T"	"r.(?)"	"p.(Glu1826Ter)"	""	""
"0000345198"	"00018515"	"90"	"5443"	"0"	"5443"	"0"	"c.5443G>T"	"r.(?)"	"p.(Glu1815Ter)"	""	""
"0000345709"	"00023858"	"90"	"4144"	"0"	"4144"	"0"	"c.4144G>T"	"r.(?)"	"p.(Gly1382Cys)"	""	""
"0000345709"	"00018515"	"90"	"4111"	"0"	"4111"	"0"	"c.4111G>T"	"r.(?)"	"p.(Gly1371Cys)"	""	""
"0000345824"	"00023858"	"50"	"5848"	"0"	"5848"	"0"	"c.5848G>A"	"r.(?)"	"p.(Gly1950Arg)"	""	""
"0000345824"	"00018515"	"50"	"5815"	"0"	"5815"	"0"	"c.5815G>A"	"r.(?)"	"p.(Gly1939Arg)"	""	""
"0000346003"	"00023858"	"50"	"1009"	"0"	"1009"	"0"	"c.1009G>C"	"r.(?)"	"p.(Gly337Arg)"	""	""
"0000346003"	"00018515"	"50"	"1009"	"0"	"1009"	"0"	"c.1009G>C"	"r.(?)"	"p.(Gly337Arg)"	""	""
"0000346611"	"00023858"	"90"	"5309"	"0"	"5309"	"0"	"c.5309T>A"	"r.(?)"	"p.(Ile1770Asn)"	""	""
"0000346611"	"00018515"	"90"	"5276"	"0"	"5276"	"0"	"c.5276T>A"	"r.(?)"	"p.(Ile1759Asn)"	""	""
"0000346793"	"00023858"	"50"	"2156"	"0"	"2156"	"0"	"c.2156T>A"	"r.(?)"	"p.(Ile719Asn)"	""	""
"0000346793"	"00018515"	"50"	"2123"	"0"	"2123"	"0"	"c.2123T>A"	"r.(?)"	"p.(Ile708Asn)"	""	""
"0000346932"	"00023858"	"10"	"4945"	"0"	"4945"	"0"	"c.4945C>T"	"r.(?)"	"p.(Leu1649=)"	""	""
"0000346932"	"00018515"	"10"	"4912"	"0"	"4912"	"0"	"c.4912C>T"	"r.(?)"	"p.(Leu1638=)"	""	""
"0000347189"	"00023858"	"50"	"1436"	"0"	"1436"	"0"	"c.1436T>C"	"r.(?)"	"p.(Leu479Pro)"	""	""
"0000347189"	"00018515"	"50"	"1436"	"0"	"1436"	"0"	"c.1436T>C"	"r.(?)"	"p.(Leu479Pro)"	""	""
"0000348208"	"00023858"	"50"	"4555"	"0"	"4555"	"0"	"c.4555C>T"	"r.(?)"	"p.(Pro1519Ser)"	""	""
"0000348208"	"00018515"	"50"	"4522"	"0"	"4522"	"0"	"c.4522C>T"	"r.(?)"	"p.(Pro1508Ser)"	""	""
"0000348733"	"00023858"	"90"	"4547"	"0"	"4547"	"0"	"c.4547C>A"	"r.(?)"	"p.(Ser1516Ter)"	""	""
"0000348733"	"00018515"	"90"	"4514"	"0"	"4514"	"0"	"c.4514C>A"	"r.(?)"	"p.(Ser1505Ter)"	""	""
"0000348734"	"00023858"	"30"	"4547"	"0"	"4547"	"0"	"c.4547C>T"	"r.(?)"	"p.(Ser1516Leu)"	""	""
"0000348734"	"00018515"	"30"	"4514"	"0"	"4514"	"0"	"c.4514C>T"	"r.(?)"	"p.(Ser1505Leu)"	""	""
"0000349343"	"00023858"	"50"	"5801"	"0"	"5801"	"0"	"c.5801C>T"	"r.(?)"	"p.(Thr1934Ile)"	""	""
"0000349343"	"00018515"	"50"	"5768"	"0"	"5768"	"0"	"c.5768C>T"	"r.(?)"	"p.(Thr1923Ile)"	""	""
"0000349371"	"00023858"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000349371"	"00018515"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0000349899"	"00023858"	"10"	"3723"	"0"	"3723"	"0"	"c.3723T>C"	"r.(?)"	"p.(Tyr1241=)"	""	""
"0000349899"	"00018515"	"10"	"3690"	"0"	"3690"	"0"	"c.3690T>C"	"r.(?)"	"p.(Tyr1230=)"	""	""
"0000350168"	"00023858"	"50"	"193"	"0"	"193"	"0"	"c.193T>C"	"r.(?)"	"p.(Tyr65His)"	""	""
"0000350168"	"00018515"	"50"	"193"	"0"	"193"	"0"	"c.193T>C"	"r.(?)"	"p.(Tyr65His)"	""	""
"0000350213"	"00023858"	"50"	"2747"	"0"	"2747"	"0"	"c.2747A>G"	"r.(?)"	"p.(Tyr916Cys)"	""	""
"0000350213"	"00018515"	"50"	"2714"	"0"	"2714"	"0"	"c.2714A>G"	"r.(?)"	"p.(Tyr905Cys)"	""	""
"0000350323"	"00023858"	"50"	"4735"	"0"	"4735"	"0"	"c.4735G>A"	"r.(?)"	"p.(Val1579Met)"	""	""
"0000350323"	"00018515"	"50"	"4702"	"0"	"4702"	"0"	"c.4702G>A"	"r.(?)"	"p.(Val1568Met)"	""	""
"0000350655"	"00023858"	"10"	"2292"	"0"	"2292"	"0"	"c.2292T>C"	"r.(?)"	"p.(Val764=)"	""	""
"0000350655"	"00018515"	"10"	"2259"	"0"	"2259"	"0"	"c.2259T>C"	"r.(?)"	"p.(Val753=)"	""	""
"0000350965"	"00023858"	"30"	"4731"	"0"	"4731"	"0"	"c.4731T>C"	"r.(?)"	"p.(Asn1577=)"	""	""
"0000350965"	"00018515"	"30"	"4698"	"0"	"4698"	"0"	"c.4698T>C"	"r.(?)"	"p.(Asn1566=)"	""	""
"0000370557"	"00023858"	"75"	"4467"	"0"	"4467"	"0"	"c.4467G>C"	"r.(?)"	"p.(Gln1489His)"	"23"	"IIIS6-IVS1"
"0000370558"	"00023858"	"75"	"4467"	"0"	"4467"	"0"	"c.4467G>C"	"r.(?)"	"p.(Gln1489His)"	"23"	"IIIS6-IVS1"
"0000370559"	"00023858"	"75"	"4467"	"0"	"4467"	"0"	"c.4467G>C"	"r.(?)"	"p.(Gln1489His)"	"23"	"IIIS6-IVS1"
"0000370560"	"00023858"	"75"	"4467"	"0"	"4467"	"0"	"c.4467G>C"	"r.(?)"	"p.(Gln1489His)"	"23"	"IIIS6-IVS1"
"0000370561"	"00023858"	"75"	"4467"	"0"	"4467"	"0"	"c.4467G>C"	"r.(?)"	"p.(Gln1489His)"	"23"	"IIIS6-IVS1"
"0000370562"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370563"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370564"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370565"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370566"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370567"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370568"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370569"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370570"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370571"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370572"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370573"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370574"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370575"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370576"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370577"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370578"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370579"	"00023858"	"77"	"4465"	"0"	"4465"	"0"	"c.4465C>A"	"r.(?)"	"p.(Gln1489Lys)"	"23"	"III-IV loop"
"0000370580"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370581"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370582"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370583"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370584"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370585"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370586"	"00023858"	"77"	"4946"	"0"	"4946"	"0"	"c.4946T>A"	"r.(?)"	"p.(Leu1649Gln)"	"26"	"IV S4"
"0000370587"	"00023858"	"75"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	"17"	"IIS6-IIIS1"
"0000370588"	"00023858"	"75"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	"17"	"IIS6-IIIS1"
"0000370589"	"00023858"	"33"	"5782"	"0"	"5782"	"0"	"c.5782C>G"	"r.(?)"	"p.(Arg1928Gly)"	"26"	""
"0000370590"	"00023858"	"77"	"787"	"0"	"787"	"0"	"c.787C>G"	"r.(?)"	"p(.Leu263Val)"	"6"	"I-S5"
"0000370591"	"00023858"	"77"	"787"	"0"	"787"	"0"	"c.787C>G"	"r.(?)"	"p(.Leu263Val)"	"6"	"I-S5"
"0000370592"	"00023858"	"77"	"787"	"0"	"787"	"0"	"c.787C>G"	"r.(?)"	"p(.Leu263Val)"	"6"	"I-S5"
"0000370593"	"00023858"	"77"	"787"	"0"	"787"	"0"	"c.787C>G"	"r.(?)"	"p(.Leu263Val)"	"6"	"I-S5"
"0000370594"	"00023858"	"77"	"787"	"0"	"787"	"0"	"c.787C>G"	"r.(?)"	"p(.Leu263Val)"	"6"	"I-S5"
"0000370595"	"00023858"	"77"	"4495"	"0"	"4495"	"0"	"c.4495T>C"	"r.(?)"	"p.(Phe1499Leu)"	"24"	"IIIS6-IVS1"
"0000370596"	"00023858"	"77"	"4495"	"0"	"4495"	"0"	"c.4495T>C"	"r.(?)"	"p.(Phe1499Leu)"	"24"	"III-S6-IVS1"
"0000370597"	"00023858"	"77"	"4495"	"0"	"4495"	"0"	"c.4495T>C"	"r.(?)"	"p.(Phe1499Leu)"	"24"	"IIIS6-IVS1"
"0000400777"	"00023858"	"90"	"5348"	"0"	"5348"	"0"	"c.5348C>T"	"r.(?)"	"p.(Ala1783Val)"	""	""
"0000400777"	"00018515"	"90"	"5315"	"0"	"5315"	"0"	"c.5315C>T"	"r.(?)"	"p.(Ala1772Val)"	""	""
"0000400778"	"00023858"	"90"	"4754"	"0"	"4754"	"0"	"c.4754del"	"r.(?)"	"p.(Thr1585Metfs*6)"	""	""
"0000400778"	"00018515"	"90"	"4721"	"0"	"4721"	"0"	"c.4721del"	"r.(?)"	"p.(Thr1574Metfs*6)"	""	""
"0000400779"	"00023858"	"90"	"1142"	"0"	"1142"	"0"	"c.1142del"	"r.(?)"	"p.(Gln381Argfs*10)"	""	""
"0000400779"	"00018515"	"90"	"1142"	"0"	"1142"	"0"	"c.1142del"	"r.(?)"	"p.(Gln381Argfs*10)"	""	""
"0000404695"	"00023858"	"70"	"602"	"3"	"602"	"6"	"c.602+3_602+6del"	"r.spl"	"p.?"	"4i"	""
"0000405984"	"00023858"	"50"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000405984"	"00018515"	"50"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000438835"	"00018515"	"50"	"695"	"-10"	"695"	"-3"	"c.695-10_695-3del"	"r.(?)"	"p.?"	""	""
"0000439118"	"00018515"	"70"	"1291"	"0"	"1291"	"0"	"c.1291C>T"	"r.(?)"	"p.Gln431*"	""	""
"0000439889"	"00018515"	"50"	"5587"	"0"	"5587"	"0"	"c.5587C>T"	"r.(?)"	"p.Arg1863Trp"	""	""
"0000440025"	"00018515"	"70"	"3140"	"0"	"3143"	"0"	"c.3140_3143del"	"r.(?)"	"p.Lys1047Thrfs*21"	""	""
"0000442732"	"00018515"	"70"	"1052"	"0"	"1052"	"0"	"c.1052G>T"	"r.(?)"	"p.Cys351Phe"	""	""
"0000443399"	"00023858"	"90"	"4002"	"2165"	"4002"	"2165"	"c.4002+2165C>T"	"r.spl"	"p.(=)"	""	""
"0000443399"	"00018515"	"00"	"3969"	"2165"	"3969"	"2165"	"c.3969+2165C>T"	"r.spl"	"p.(=)"	""	""
"0000443400"	"00023858"	"90"	"4002"	"2168"	"4002"	"2172"	"c.4002+2168_4002+2172del"	"r.spl"	"p.(=)"	""	""
"0000443400"	"00018515"	"90"	"3969"	"2168"	"3969"	"2172"	"c.3969+2168_3969+2172del"	"r.spl"	"p.(=)"	""	""
"0000443401"	"00023858"	"90"	"4002"	"2451"	"4002"	"2451"	"c.4002+2451G>C"	"r.spl"	"p.(=)"	""	""
"0000443401"	"00018515"	"90"	"3969"	"2451"	"3969"	"2451"	"c.3969+2451G>C"	"r.spl"	"p.(=)"	""	""
"0000443402"	"00023858"	"70"	"4002"	"2455"	"4002"	"2455"	"c.4002+2455G>A"	"r.spl?"	"p.(=)"	""	""
"0000443402"	"00018515"	"70"	"3969"	"2455"	"3969"	"2455"	"c.3969+2455G>A"	"r.spl?"	"p.(=)"	""	""
"0000443403"	"00023858"	"70"	"4002"	"2503"	"4002"	"2503"	"c.4002+2503C>T"	"r.spl?"	"p.(=)"	""	""
"0000443403"	"00018515"	"70"	"3969"	"2503"	"3969"	"2503"	"c.3969+2503C>T"	"r.spl?"	"p.(=)"	""	""
"0000443404"	"00023858"	"70"	"-108889"	"0"	"-16994"	"0"	"c.(?_-108889)_(-16994_?)del"	"r.0?"	"p.0?"	"_1"	""
"0000443404"	"00018515"	"70"	"-108889"	"0"	"-16994"	"0"	"c.(?_-108889)_(-16994_?)del"	"r.0?"	"p.0?"	"_1"	""
"0000443405"	"00023858"	"70"	"-112190"	"0"	"-4848"	"0"	"c.(?_-112190)_(-4848_?)del"	"r.0?"	"p.0?"	""	""
"0000443405"	"00018515"	"70"	"-112190"	"0"	"-4848"	"0"	"c.(?_-112190)_(-4848_?)del"	"r.0?"	"p.0?"	""	""
"0000487442"	"00018515"	"70"	"3397"	"-1"	"4443"	"1"	"c.(3396+1_3397-1)_(4443+1_4444-1)del"	"r.?"	"p.?"	""	""
"0000509895"	"00023858"	"30"	"6202"	"0"	"6202"	"0"	"c.*172dup"	"r.(?)"	"p.(=)"	""	""
"0000509895"	"00018515"	"30"	"6169"	"0"	"6169"	"0"	"c.*172dup"	"r.(?)"	"p.(=)"	""	""
"0000509896"	"00023858"	"90"	"5734"	"0"	"5734"	"0"	"c.5734C>T"	"r.(?)"	"p.(Arg1912Ter)"	""	""
"0000509896"	"00018515"	"90"	"5701"	"0"	"5701"	"0"	"c.5701C>T"	"r.(?)"	"p.(Arg1901Ter)"	""	""
"0000509897"	"00023858"	"90"	"5360"	"0"	"5360"	"0"	"c.5360del"	"r.(?)"	"p.(Glu1787GlyfsTer14)"	""	""
"0000509897"	"00018515"	"90"	"5327"	"0"	"5327"	"0"	"c.5327del"	"r.(?)"	"p.(Glu1776GlyfsTer14)"	""	""
"0000509898"	"00023858"	"50"	"5073"	"0"	"5073"	"0"	"c.5073C>A"	"r.(?)"	"p.(Asn1691Lys)"	""	""
"0000509898"	"00018515"	"50"	"5040"	"0"	"5040"	"0"	"c.5040C>A"	"r.(?)"	"p.(Asn1680Lys)"	""	""
"0000509899"	"00023858"	"50"	"4990"	"0"	"4990"	"0"	"c.4990A>C"	"r.(?)"	"p.(Met1664Leu)"	""	""
"0000509899"	"00018515"	"50"	"4957"	"0"	"4957"	"0"	"c.4957A>C"	"r.(?)"	"p.(Met1653Leu)"	""	""
"0000509900"	"00023858"	"70"	"4907"	"0"	"4907"	"0"	"c.4907G>A"	"r.(?)"	"p.(Arg1636Gln)"	""	""
"0000509900"	"00018515"	"70"	"4874"	"0"	"4874"	"0"	"c.4874G>A"	"r.(?)"	"p.(Arg1625Gln)"	""	""
"0000509901"	"00023858"	"50"	"4727"	"0"	"4727"	"0"	"c.4727T>C"	"r.(?)"	"p.(Ile1576Thr)"	""	""
"0000509901"	"00018515"	"50"	"4694"	"0"	"4694"	"0"	"c.4694T>C"	"r.(?)"	"p.(Ile1565Thr)"	""	""
"0000509902"	"00023858"	"50"	"4670"	"0"	"4670"	"0"	"c.4670C>T"	"r.(?)"	"p.(Thr1557Ile)"	""	""
"0000509902"	"00018515"	"50"	"4637"	"0"	"4637"	"0"	"c.4637C>T"	"r.(?)"	"p.(Thr1546Ile)"	""	""
"0000509903"	"00023858"	"30"	"4582"	"-110"	"4582"	"-110"	"c.4582-110C>T"	"r.(=)"	"p.(=)"	""	""
"0000509903"	"00018515"	"30"	"4549"	"-110"	"4549"	"-110"	"c.4549-110C>T"	"r.(=)"	"p.(=)"	""	""
"0000509904"	"00023858"	"30"	"4581"	"124"	"4581"	"124"	"c.4581+124C>G"	"r.(=)"	"p.(=)"	""	""
"0000509904"	"00018515"	"30"	"4548"	"124"	"4548"	"124"	"c.4548+124C>G"	"r.(=)"	"p.(=)"	""	""
"0000509905"	"00023858"	"10"	"4476"	"33"	"4476"	"33"	"c.4476+33G>A"	"r.(=)"	"p.(=)"	""	""
"0000509905"	"00018515"	"10"	"4443"	"33"	"4443"	"33"	"c.4443+33G>A"	"r.(=)"	"p.(=)"	""	""
"0000509906"	"00023858"	"90"	"4400"	"0"	"4400"	"0"	"c.4400T>A"	"r.(?)"	"p.(Ile1467Asn)"	""	""
"0000509906"	"00018515"	"90"	"4367"	"0"	"4367"	"0"	"c.4367T>A"	"r.(?)"	"p.(Ile1456Asn)"	""	""
"0000509907"	"00023858"	"50"	"4351"	"0"	"4351"	"0"	"c.4351C>T"	"r.(?)"	"p.(Pro1451Ser)"	""	""
"0000509907"	"00018515"	"50"	"4318"	"0"	"4318"	"0"	"c.4318C>T"	"r.(?)"	"p.(Pro1440Ser)"	""	""
"0000509908"	"00023858"	"10"	"4339"	"-96"	"4339"	"-96"	"c.4339-96dup"	"r.(=)"	"p.(=)"	""	""
"0000509908"	"00018515"	"10"	"4306"	"-96"	"4306"	"-96"	"c.4306-96dup"	"r.(=)"	"p.(=)"	""	""
"0000509909"	"00023858"	"50"	"4246"	"0"	"4246"	"0"	"c.4246G>A"	"r.(?)"	"p.(Asp1416Asn)"	""	""
"0000509909"	"00018515"	"50"	"4213"	"0"	"4213"	"0"	"c.4213G>A"	"r.(?)"	"p.(Asp1405Asn)"	""	""
"0000509910"	"00023858"	"90"	"4168"	"0"	"4168"	"0"	"c.4168G>A"	"r.(?)"	"p.(Val1390Met)"	""	""
"0000509910"	"00018515"	"90"	"4135"	"0"	"4135"	"0"	"c.4135G>A"	"r.(?)"	"p.(Val1379Met)"	""	""
"0000509911"	"00023858"	"90"	"4168"	"0"	"4168"	"0"	"c.4168G>A"	"r.(?)"	"p.(Val1390Met)"	""	""
"0000509911"	"00018515"	"90"	"4135"	"0"	"4135"	"0"	"c.4135G>A"	"r.(?)"	"p.(Val1379Met)"	""	""
"0000509912"	"00023858"	"70"	"4096"	"0"	"4096"	"0"	"c.4096G>A"	"r.(?)"	"p.(Val1366Ile)"	""	""
"0000509912"	"00018515"	"70"	"4063"	"0"	"4063"	"0"	"c.4063G>A"	"r.(?)"	"p.(Val1355Ile)"	""	""
"0000509913"	"00023858"	"50"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000509913"	"00018515"	"50"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000509914"	"00023858"	"30"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000509914"	"00018515"	"30"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000509915"	"00023858"	"30"	"3481"	"0"	"3481"	"0"	"c.3481G>A"	"r.(?)"	"p.(Ala1161Thr)"	""	""
"0000509915"	"00018515"	"30"	"3448"	"0"	"3448"	"0"	"c.3448G>A"	"r.(?)"	"p.(Ala1150Thr)"	""	""
"0000509916"	"00023858"	"30"	"3429"	"114"	"3429"	"114"	"c.3429+114dup"	"r.(=)"	"p.(=)"	""	""
"0000509916"	"00018515"	"30"	"3396"	"114"	"3396"	"114"	"c.3396+114dup"	"r.(=)"	"p.(=)"	""	""
"0000509917"	"00023858"	"50"	"3350"	"0"	"3350"	"0"	"c.3350T>C"	"r.(?)"	"p.(Ile1117Thr)"	""	""
"0000509917"	"00018515"	"50"	"3317"	"0"	"3317"	"0"	"c.3317T>C"	"r.(?)"	"p.(Ile1106Thr)"	""	""
"0000509918"	"00023858"	"90"	"3295"	"0"	"3295"	"0"	"c.3295G>T"	"r.(?)"	"p.(Glu1099Ter)"	""	""
"0000509918"	"00018515"	"90"	"3262"	"0"	"3262"	"0"	"c.3262G>T"	"r.(?)"	"p.(Glu1088Ter)"	""	""
"0000509919"	"00023858"	"90"	"2958"	"0"	"2959"	"0"	"c.2958_2959del"	"r.(?)"	"p.(Phe987SerfsTer9)"	""	""
"0000509919"	"00018515"	"90"	"2925"	"0"	"2926"	"0"	"c.2925_2926del"	"r.(?)"	"p.(Phe976SerfsTer9)"	""	""
"0000509920"	"00023858"	"90"	"2944"	"0"	"2944"	"0"	"c.2944G>C"	"r.(?)"	"p.(Val982Leu)"	""	""
"0000509920"	"00018515"	"90"	"2911"	"0"	"2911"	"0"	"c.2911G>C"	"r.(?)"	"p.(Val971Leu)"	""	""
"0000509921"	"00023858"	"90"	"2836"	"0"	"2836"	"0"	"c.2836C>T"	"r.(?)"	"p.(Arg946Cys)"	""	""
"0000509921"	"00018515"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935Cys)"	""	""
"0000509922"	"00023858"	"90"	"2836"	"0"	"2836"	"0"	"c.2836C>T"	"r.(?)"	"p.(Arg946Cys)"	""	""
"0000509922"	"00018515"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935Cys)"	""	""
"0000509923"	"00023858"	"90"	"2796"	"0"	"2796"	"0"	"c.2796G>A"	"r.(?)"	"p.(Trp932Ter)"	""	""
"0000509923"	"00018515"	"90"	"2763"	"0"	"2763"	"0"	"c.2763G>A"	"r.(?)"	"p.(Trp921Ter)"	""	""
"0000509924"	"00023858"	"10"	"2770"	"0"	"2770"	"0"	"c.2770G>A"	"r.(?)"	"p.(Ala924Thr)"	""	""
"0000509924"	"00018515"	"10"	"2737"	"0"	"2737"	"0"	"c.2737G>A"	"r.(?)"	"p.(Ala913Thr)"	""	""
"0000509925"	"00023858"	"90"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Thr875Met)"	""	""
"0000509925"	"00018515"	"90"	"2591"	"0"	"2591"	"0"	"c.2591C>T"	"r.(?)"	"p.(Thr864Met)"	""	""
"0000509926"	"00023858"	"10"	"2589"	"18"	"2589"	"19"	"c.2589+18_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000509926"	"00018515"	"10"	"2556"	"18"	"2556"	"19"	"c.2556+18_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000509927"	"00023858"	"90"	"2589"	"3"	"2589"	"3"	"c.2589+3A>C"	"r.spl?"	"p.?"	""	""
"0000509927"	"00018515"	"90"	"2556"	"3"	"2556"	"3"	"c.2556+3A>C"	"r.spl?"	"p.?"	""	""
"0000509928"	"00023858"	"90"	"2378"	"0"	"2378"	"0"	"c.2378C>T"	"r.(?)"	"p.(Thr793Met)"	""	""
"0000509928"	"00018515"	"90"	"2345"	"0"	"2345"	"0"	"c.2345C>T"	"r.(?)"	"p.(Thr782Met)"	""	""
"0000509929"	"00023858"	"50"	"2240"	"0"	"2240"	"0"	"c.2240T>C"	"r.(?)"	"p.(Ile747Thr)"	""	""
"0000509929"	"00018515"	"50"	"2207"	"0"	"2207"	"0"	"c.2207T>C"	"r.(?)"	"p.(Ile736Thr)"	""	""
"0000509931"	"00023858"	"50"	"2177"	"-2"	"2177"	"-2"	"c.2177-2A>T"	"r.spl?"	"p.?"	""	""
"0000509931"	"00018515"	"50"	"2144"	"-2"	"2144"	"-2"	"c.2144-2A>T"	"r.spl?"	"p.?"	""	""
"0000509932"	"00023858"	"30"	"2177"	"-7"	"2177"	"-7"	"c.2177-7A>T"	"r.(=)"	"p.(=)"	""	""
"0000509932"	"00018515"	"30"	"2144"	"-7"	"2144"	"-7"	"c.2144-7A>T"	"r.(=)"	"p.(=)"	""	""
"0000509933"	"00023858"	"30"	"2177"	"-11"	"2177"	"-11"	"c.2177-11dup"	"r.(=)"	"p.(=)"	""	""
"0000509933"	"00018515"	"30"	"2144"	"-11"	"2144"	"-11"	"c.2144-11dup"	"r.(=)"	"p.(=)"	""	""
"0000509934"	"00023858"	"30"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.(?)"	"p.(Ala637Val)"	""	""
"0000509934"	"00018515"	"30"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.(?)"	"p.(Ala637Val)"	""	""
"0000509935"	"00023858"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000509935"	"00018515"	"30"	"1811"	"0"	"1811"	"0"	"c.1811G>A"	"r.(?)"	"p.(Arg604His)"	""	""
"0000509936"	"00023858"	"30"	"1797"	"0"	"1797"	"0"	"c.1797G>A"	"r.(?)"	"p.(Glu599=)"	""	""
"0000509936"	"00018515"	"30"	"1797"	"0"	"1797"	"0"	"c.1797G>A"	"r.(?)"	"p.(Glu599=)"	""	""
"0000509937"	"00023858"	"10"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000509937"	"00018515"	"10"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000509938"	"00023858"	"30"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000509938"	"00018515"	"30"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000509939"	"00023858"	"90"	"1624"	"0"	"1624"	"0"	"c.1624C>T"	"r.(?)"	"p.(Arg542Ter)"	""	""
"0000509939"	"00018515"	"90"	"1624"	"0"	"1624"	"0"	"c.1624C>T"	"r.(?)"	"p.(Arg542Ter)"	""	""
"0000509940"	"00023858"	"30"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""	""
"0000509940"	"00018515"	"30"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""	""
"0000509941"	"00023858"	"90"	"1234"	"0"	"1234"	"0"	"c.1234T>C"	"r.(?)"	"p.(Phe412Leu)"	""	""
"0000509941"	"00018515"	"90"	"1234"	"0"	"1234"	"0"	"c.1234T>C"	"r.(?)"	"p.(Phe412Leu)"	""	""
"0000509942"	"00023858"	"70"	"1217"	"0"	"1217"	"0"	"c.1217T>C"	"r.(?)"	"p.(Val406Ala)"	""	""
"0000509942"	"00018515"	"70"	"1217"	"0"	"1217"	"0"	"c.1217T>C"	"r.(?)"	"p.(Val406Ala)"	""	""
"0000509945"	"00023858"	"90"	"1133"	"0"	"1133"	"0"	"c.1133T>C"	"r.(?)"	"p.(Leu378Pro)"	""	""
"0000509945"	"00018515"	"90"	"1133"	"0"	"1133"	"0"	"c.1133T>C"	"r.(?)"	"p.(Leu378Pro)"	""	""
"0000509946"	"00023858"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>C"	"r.(?)"	"p.(Arg377Pro)"	""	""
"0000509946"	"00018515"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>C"	"r.(?)"	"p.(Arg377Pro)"	""	""
"0000509947"	"00023858"	"90"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Ter)"	""	""
"0000509947"	"00018515"	"90"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377Ter)"	""	""
"0000509948"	"00023858"	"10"	"965"	"-21"	"965"	"-21"	"c.965-21C>T"	"r.(=)"	"p.(=)"	""	""
"0000509948"	"00018515"	"10"	"965"	"-21"	"965"	"-21"	"c.965-21C>T"	"r.(=)"	"p.(=)"	""	""
"0000509949"	"00023858"	"30"	"964"	"41"	"964"	"41"	"c.964+41T>A"	"r.(=)"	"p.(=)"	""	""
"0000509949"	"00018515"	"30"	"964"	"41"	"964"	"41"	"c.964+41T>A"	"r.(=)"	"p.(=)"	""	""
"0000509950"	"00023858"	"50"	"905"	"0"	"905"	"0"	"c.905G>T"	"r.(?)"	"p.(Gly302Val)"	""	""
"0000509950"	"00018515"	"50"	"905"	"0"	"905"	"0"	"c.905G>T"	"r.(?)"	"p.(Gly302Val)"	""	""
"0000509951"	"00023858"	"50"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Gly271Asp)"	""	""
"0000509951"	"00018515"	"50"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Gly271Asp)"	""	""
"0000509952"	"00023858"	"10"	"694"	"232"	"694"	"233"	"c.694+232_694+233insA"	"r.(=)"	"p.(=)"	""	""
"0000509952"	"00018515"	"10"	"694"	"232"	"694"	"233"	"c.694+232_694+233insA"	"r.(=)"	"p.(=)"	""	""
"0000509953"	"00023858"	"70"	"694"	"5"	"694"	"5"	"c.694+5G>C"	"r.spl?"	"p.?"	""	""
"0000509953"	"00018515"	"70"	"694"	"5"	"694"	"5"	"c.694+5G>C"	"r.spl?"	"p.?"	""	""
"0000509954"	"00023858"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222Ter)"	""	""
"0000509954"	"00018515"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222Ter)"	""	""
"0000509955"	"00023858"	"30"	"602"	"6"	"602"	"7"	"c.602+6_602+7dup"	"r.(=)"	"p.(=)"	""	""
"0000509955"	"00018515"	"30"	"602"	"6"	"602"	"7"	"c.602+6_602+7dup"	"r.(=)"	"p.(=)"	""	""
"0000509956"	"00023858"	"90"	"493"	"0"	"493"	"0"	"c.493T>C"	"r.(?)"	"p.(Tyr165His)"	""	""
"0000509956"	"00018515"	"90"	"493"	"0"	"493"	"0"	"c.493T>C"	"r.(?)"	"p.(Tyr165His)"	""	""
"0000509957"	"00023858"	"30"	"474"	"-32"	"474"	"-23"	"c.474-32_474-23del"	"r.(=)"	"p.(=)"	""	""
"0000509957"	"00018515"	"30"	"474"	"-32"	"474"	"-23"	"c.474-32_474-23del"	"r.(=)"	"p.(=)"	""	""
"0000509958"	"00023858"	"10"	"471"	"0"	"471"	"0"	"c.471A>G"	"r.(?)"	"p.(Val157=)"	""	""
"0000509958"	"00018515"	"10"	"471"	"0"	"471"	"0"	"c.471A>G"	"r.(?)"	"p.(Val157=)"	""	""
"0000509959"	"00023858"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000509959"	"00018515"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000509960"	"00023858"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000509960"	"00018515"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000509961"	"00023858"	"50"	"65"	"0"	"65"	"0"	"c.65T>C"	"r.(?)"	"p.(Leu22Pro)"	""	""
"0000509961"	"00018515"	"50"	"65"	"0"	"65"	"0"	"c.65T>C"	"r.(?)"	"p.(Leu22Pro)"	""	""
"0000509962"	"00023858"	"70"	"65"	"0"	"65"	"0"	"c.65T>C"	"r.(?)"	"p.(Leu22Pro)"	""	""
"0000509962"	"00018515"	"70"	"65"	"0"	"65"	"0"	"c.65T>C"	"r.(?)"	"p.(Leu22Pro)"	""	""
"0000509963"	"00023858"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000509963"	"00018515"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000509964"	"00023858"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000509964"	"00018515"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000509965"	"00023858"	"30"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000509965"	"00018515"	"30"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000604475"	"00023858"	"70"	"2791"	"0"	"2791"	"0"	"c.2791C>T"	"r.(?)"	"p.(Arg931Cys)"	""	""
"0000606216"	"00023858"	"50"	"5870"	"0"	"5870"	"0"	"c.5870A>G"	"r.(?)"	"p.(Glu1957Gly)"	""	""
"0000606216"	"00018515"	"50"	"5837"	"0"	"5837"	"0"	"c.5837A>G"	"r.(?)"	"p.(Glu1946Gly)"	""	""
"0000606217"	"00023858"	"70"	"5792"	"0"	"5792"	"0"	"c.5792del"	"r.(?)"	"p.(Leu1931Ter)"	""	""
"0000606217"	"00018515"	"70"	"5759"	"0"	"5759"	"0"	"c.5759del"	"r.(?)"	"p.(Leu1920Ter)"	""	""
"0000606218"	"00023858"	"50"	"5187"	"0"	"5187"	"0"	"c.5187G>T"	"r.(?)"	"p.(Leu1729Phe)"	""	""
"0000606218"	"00018515"	"50"	"5154"	"0"	"5154"	"0"	"c.5154G>T"	"r.(?)"	"p.(Leu1718Phe)"	""	""
"0000606219"	"00023858"	"30"	"4551"	"0"	"4551"	"0"	"c.4551A>G"	"r.(?)"	"p.(Lys1517=)"	""	""
"0000606219"	"00018515"	"30"	"4518"	"0"	"4518"	"0"	"c.4518A>G"	"r.(?)"	"p.(Lys1506=)"	""	""
"0000606220"	"00023858"	"30"	"3480"	"0"	"3480"	"0"	"c.3480C>T"	"r.(?)"	"p.(Gly1160=)"	""	""
"0000606220"	"00018515"	"30"	"3447"	"0"	"3447"	"0"	"c.3447C>T"	"r.(?)"	"p.(Gly1149=)"	""	""
"0000606221"	"00023858"	"90"	"2589"	"3"	"2589"	"3"	"c.2589+3A>T"	"r.spl?"	"p.?"	""	""
"0000606221"	"00018515"	"90"	"2556"	"3"	"2556"	"3"	"c.2556+3A>T"	"r.spl?"	"p.?"	""	""
"0000606222"	"00023858"	"30"	"2369"	"0"	"2369"	"0"	"c.2369A>T"	"r.(?)"	"p.(Tyr790Phe)"	""	""
"0000606222"	"00018515"	"30"	"2336"	"0"	"2336"	"0"	"c.2336A>T"	"r.(?)"	"p.(Tyr779Phe)"	""	""
"0000606223"	"00023858"	"90"	"2356"	"0"	"2356"	"0"	"c.2356del"	"r.(?)"	"p.(Ala786ProfsTer7)"	""	""
"0000606223"	"00018515"	"90"	"2323"	"0"	"2323"	"0"	"c.2323del"	"r.(?)"	"p.(Ala775ProfsTer7)"	""	""
"0000606224"	"00023858"	"50"	"2177"	"-1"	"2177"	"-1"	"c.2177-1G>A"	"r.spl?"	"p.?"	""	""
"0000606224"	"00018515"	"50"	"2144"	"-1"	"2144"	"-1"	"c.2144-1G>A"	"r.spl?"	"p.?"	""	""
"0000606225"	"00023858"	"30"	"2177"	"-7"	"2177"	"-6"	"c.2177-7_2177-6insT"	"r.(=)"	"p.(=)"	""	""
"0000606225"	"00018515"	"30"	"2144"	"-7"	"2144"	"-6"	"c.2144-7_2144-6insT"	"r.(=)"	"p.(=)"	""	""
"0000606227"	"00023858"	"70"	"548"	"0"	"548"	"0"	"c.548T>C"	"r.(?)"	"p.(Phe183Ser)"	""	""
"0000606227"	"00018515"	"70"	"548"	"0"	"548"	"0"	"c.548T>C"	"r.(?)"	"p.(Phe183Ser)"	""	""
"0000606228"	"00023858"	"90"	"268"	"0"	"268"	"0"	"c.268T>C"	"r.(?)"	"p.(Phe90Leu)"	""	""
"0000606228"	"00018515"	"90"	"268"	"0"	"268"	"0"	"c.268T>C"	"r.(?)"	"p.(Phe90Leu)"	""	""
"0000620761"	"00023858"	"30"	"4887"	"0"	"4887"	"0"	"c.4887C>T"	"r.(?)"	"p.(Phe1629=)"	""	""
"0000620761"	"00018515"	"30"	"4854"	"0"	"4854"	"0"	"c.4854C>T"	"r.(?)"	"p.(Phe1618=)"	""	""
"0000620762"	"00023858"	"50"	"4793"	"0"	"4793"	"0"	"c.4793A>T"	"r.(?)"	"p.(Tyr1598Phe)"	""	""
"0000620762"	"00018515"	"50"	"4760"	"0"	"4760"	"0"	"c.4760A>T"	"r.(?)"	"p.(Tyr1587Phe)"	""	""
"0000620763"	"00023858"	"30"	"1378"	"-3"	"1378"	"-3"	"c.1378-3T>C"	"r.spl?"	"p.?"	""	""
"0000620763"	"00018515"	"30"	"1378"	"-3"	"1378"	"-3"	"c.1378-3T>C"	"r.spl?"	"p.?"	""	""
"0000624902"	"00023858"	"90"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Arg712Ter)"	""	""
"0000630871"	"00018515"	"50"	"2556"	"0"	"2556"	"0"	"c.2556G>A"	"r.(?)"	"p.(Leu852Leu)"	""	""
"0000644168"	"00018515"	"50"	"971"	"0"	"971"	"0"	"c.971A>G"	"r.(?)"	"p.(His324Arg)"	""	""
"0000645317"	"00018515"	"90"	"2583"	"0"	"3173"	"0"	"c.2583_3173delinsAAGTTGGCAAAA"	"r.spl"	"p.(Trp862_Ile1058delinsSerTrpGlnAsn)"	""	""
"0000647272"	"00018515"	"50"	"5844"	"0"	"5844"	"0"	"c.5844G>T"	"r.(?)"	"p.(Met1948Ile)"	""	""
"0000650173"	"00023858"	"70"	"5753"	"0"	"5753"	"0"	"c.5753C>T"	"r.(?)"	"p.(Ser1918Phe)"	""	""
"0000650173"	"00018515"	"70"	"5720"	"0"	"5720"	"0"	"c.5720C>T"	"r.(?)"	"p.(Ser1907Phe)"	""	""
"0000650174"	"00023858"	"50"	"5681"	"0"	"5681"	"0"	"c.5681T>C"	"r.(?)"	"p.(Met1894Thr)"	""	""
"0000650174"	"00018515"	"50"	"5648"	"0"	"5648"	"0"	"c.5648T>C"	"r.(?)"	"p.(Met1883Thr)"	""	""
"0000650175"	"00023858"	"90"	"4786"	"0"	"4786"	"0"	"c.4786C>T"	"r.(?)"	"p.(Arg1596Cys)"	""	""
"0000650175"	"00018515"	"90"	"4753"	"0"	"4753"	"0"	"c.4753C>T"	"r.(?)"	"p.(Arg1585Cys)"	""	""
"0000650176"	"00023858"	"70"	"4674"	"0"	"4674"	"0"	"c.4674G>A"	"r.(?)"	"p.(Met1558Ile)"	""	""
"0000650176"	"00018515"	"70"	"4641"	"0"	"4641"	"0"	"c.4641G>A"	"r.(?)"	"p.(Met1547Ile)"	""	""
"0000650177"	"00023858"	"90"	"4088"	"0"	"4088"	"0"	"c.4088T>A"	"r.(?)"	"p.(Ile1363Asn)"	""	""
"0000650177"	"00018515"	"90"	"4055"	"0"	"4055"	"0"	"c.4055T>A"	"r.(?)"	"p.(Ile1352Asn)"	""	""
"0000650178"	"00023858"	"90"	"4044"	"0"	"4044"	"0"	"c.4044G>A"	"r.(?)"	"p.(Met1348Ile)"	""	""
"0000650178"	"00018515"	"90"	"4011"	"0"	"4011"	"0"	"c.4011G>A"	"r.(?)"	"p.(Met1337Ile)"	""	""
"0000650179"	"00018515"	"70"	"3817"	"0"	"3817"	"0"	"c.3817T>C"	"r.(?)"	"p.(Trp1273Arg)"	""	""
"0000650180"	"00023858"	"90"	"3757"	"0"	"3757"	"0"	"c.3757G>T"	"r.(?)"	"p.(Glu1253*)"	""	""
"0000650180"	"00018515"	"90"	"3724"	"0"	"3724"	"0"	"c.3724G>T"	"r.(?)"	"p.(Glu1242*)"	""	""
"0000650181"	"00023858"	"90"	"3455"	"0"	"3455"	"0"	"c.3455C>A"	"r.(?)"	"p.(Ser1152*)"	""	""
"0000650181"	"00018515"	"90"	"3422"	"0"	"3422"	"0"	"c.3422C>A"	"r.(?)"	"p.(Ser1141*)"	""	""
"0000650182"	"00023858"	"90"	"3306"	"0"	"3306"	"0"	"c.3306C>A"	"r.(?)"	"p.(Tyr1102*)"	""	""
"0000650182"	"00018515"	"90"	"3273"	"0"	"3273"	"0"	"c.3273C>A"	"r.(?)"	"p.(Tyr1091*)"	""	""
"0000650183"	"00023858"	"90"	"2903"	"0"	"2903"	"0"	"c.2903G>T"	"r.(?)"	"p.(Cys968Phe)"	""	""
"0000650183"	"00018515"	"90"	"2870"	"0"	"2870"	"0"	"c.2870G>T"	"r.(?)"	"p.(Cys957Phe)"	""	""
"0000650184"	"00023858"	"90"	"2877"	"0"	"2877"	"0"	"c.2877T>A"	"r.(?)"	"p.(Cys959*)"	""	""
"0000650184"	"00018515"	"90"	"2844"	"0"	"2844"	"0"	"c.2844T>A"	"r.(?)"	"p.(Cys948*)"	""	""
"0000650185"	"00023858"	"90"	"2837"	"0"	"2837"	"0"	"c.2837G>A"	"r.(?)"	"p.(Arg946His)"	""	""
"0000650185"	"00018515"	"90"	"2804"	"0"	"2804"	"0"	"c.2804G>A"	"r.(?)"	"p.(Arg935His)"	""	""
"0000650186"	"00023858"	"90"	"2523"	"0"	"2524"	"0"	"c.2523_2524del"	"r.(?)"	"p.(Leu842*)"	""	""
"0000650186"	"00018515"	"90"	"2490"	"0"	"2491"	"0"	"c.2490_2491del"	"r.(?)"	"p.(Leu831*)"	""	""
"0000650187"	"00023858"	"90"	"2177"	"-1"	"2177"	"-1"	"c.2177-1G>T"	"r.spl?"	"p.?"	""	""
"0000650187"	"00018515"	"90"	"2144"	"-1"	"2144"	"-1"	"c.2144-1G>T"	"r.spl?"	"p.?"	""	""
"0000650188"	"00023858"	"90"	"777"	"0"	"777"	"0"	"c.777C>A"	"r.(?)"	"p.(Ser259Arg)"	""	""
"0000650188"	"00018515"	"90"	"777"	"0"	"777"	"0"	"c.777C>A"	"r.(?)"	"p.(Ser259Arg)"	""	""
"0000650189"	"00023858"	"70"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222*)"	""	""
"0000650189"	"00018515"	"70"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222*)"	""	""
"0000650190"	"00023858"	"90"	"384"	"-1"	"384"	"-1"	"c.384-1C>G"	"r.spl?"	"p.?"	""	""
"0000650190"	"00018515"	"90"	"384"	"-1"	"384"	"-1"	"c.384-1C>G"	"r.spl?"	"p.?"	""	""
"0000650191"	"00023858"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000650191"	"00018515"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000650192"	"00023858"	"90"	"82"	"0"	"82"	"0"	"c.82C>T"	"r.(?)"	"p.(Arg28Cys)"	""	""
"0000650192"	"00018515"	"90"	"82"	"0"	"82"	"0"	"c.82C>T"	"r.(?)"	"p.(Arg28Cys)"	""	""
"0000653030"	"00023858"	"90"	"2836"	"0"	"2836"	"0"	"c.2836C>T"	"r.(?)"	"p.(Arg946Cys)"	""	""
"0000653030"	"00018515"	"90"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Arg935Cys)"	""	""
"0000653149"	"00023858"	"90"	"3821"	"0"	"3821"	"0"	"c.3821A>C"	"r.(?)"	"p.(Tyr1274Ser)"	""	""
"0000653414"	"00018515"	"70"	"419"	"0"	"419"	"0"	"c.419C>G"	"r.(?)"	"p.(Thr140Arg)"	""	""
"0000654244"	"00023858"	"30"	"5870"	"0"	"5870"	"0"	"c.5870A>G"	"r.(?)"	"p.(Glu1957Gly)"	""	""
"0000654244"	"00018515"	"30"	"5837"	"0"	"5837"	"0"	"c.5837A>G"	"r.(?)"	"p.(Glu1946Gly)"	""	""
"0000654246"	"00023858"	"10"	"1410"	"0"	"1410"	"0"	"c.1410C>T"	"r.(?)"	"p.(Ser470=)"	""	""
"0000654246"	"00018515"	"10"	"1410"	"0"	"1410"	"0"	"c.1410C>T"	"r.(?)"	"p.(Ser470=)"	""	""
"0000659721"	"00018515"	"50"	"4595"	"0"	"4595"	"0"	"c.4595T>C"	"r.(?)"	"p.(Phe1532Ser)"	""	""
"0000659791"	"00018515"	"70"	"4770"	"0"	"4770"	"0"	"c.4770dup"	"r.(?)"	"p.(Ile1591Hisfs*7)"	""	""
"0000659794"	"00018515"	"50"	"5849"	"0"	"5849"	"0"	"c.5849T>C"	"r.(?)"	"p.(Ile1950Thr)"	""	""
"0000660246"	"00018515"	"50"	"3686"	"0"	"3686"	"0"	"c.3686T>C"	"r.(?)"	"p.(Ile1229Thr)"	""	""
"0000660441"	"00018515"	"70"	"4052"	"0"	"4052"	"0"	"c.4052G>C"	"r.(?)"	"p.(Ser1351Thr)"	""	""
"0000665612"	"00023858"	"50"	"3064"	"0"	"3064"	"0"	"c.3064C>T"	"r.(?)"	"p.(Arg1022Cys)"	""	""
"0000665614"	"00023858"	"50"	"379"	"0"	"379"	"0"	"c.379C>G"	"r.(?)"	"p.(His127Asp)"	""	""
"0000665796"	"00018515"	"50"	"3681"	"0"	"3681"	"0"	"c.3681A>C"	"r.(?)"	"p.(Glu1227Asp)"	""	""
"0000665813"	"00018515"	"70"	"1363"	"0"	"1363"	"0"	"c.1363C>T"	"r.(?)"	"p.(Gln455*)"	""	""
"0000667570"	"00018515"	"90"	"3980"	"0"	"3980"	"0"	"c.3980A>C"	"r.(?)"	"p.(Asn1327Thr)"	""	""
"0000667572"	"00018515"	"90"	"4488"	"0"	"4488"	"0"	"c.4488C>G"	"r.(?)"	"p.(Tyr1496*)"	""	""
"0000667664"	"00018515"	"90"	"4803"	"0"	"4803"	"0"	"c.4803del"	"r.(?)"	"p.(Ile1613Phefs*5)"	""	""
"0000667665"	"00018515"	"90"	"5929"	"0"	"5929"	"0"	"c.5929C>T"	"r.(?)"	"p.(Arg1988Trp)"	""	""
"0000667666"	"00018515"	"90"	"4000"	"0"	"4000"	"0"	"c.4000C>T"	"r.(?)"	"p.(Pro1345Ser)"	""	""
"0000667667"	"00018515"	"90"	"133"	"0"	"133"	"0"	"c.133G>A"	"r.(?)"	"p.(Asp45Asn)"	""	""
"0000667668"	"00018515"	"90"	"3944"	"0"	"3944"	"0"	"c.3944C>T"	"r.(?)"	"p.(Ala1326Val)"	""	""
"0000667669"	"00018515"	"90"	"1076"	"0"	"1076"	"0"	"c.1076A>C"	"r.(?)"	"p.(Asn359Thr)"	""	""
"0000667670"	"00018515"	"70"	"1209"	"0"	"1209"	"0"	"c.1209del"	"r.(?)"	"p.(Phe403Leufs*12)"	""	""
"0000667671"	"00018515"	"90"	"4420"	"0"	"4420"	"0"	"c.4420A>G"	"r.(?)"	"p.(Asn1485Asp)"	""	""
"0000667707"	"00018515"	"50"	"179"	"0"	"179"	"0"	"c.179A>G"	"r.(?)"	"p.(Asn60Ser)"	""	""
"0000667708"	"00018515"	"50"	"5162"	"0"	"5162"	"0"	"c.5162C>T"	"r.(?)"	"p.(Pro1732Leu)"	""	""
"0000667709"	"00018515"	"50"	"2884"	"0"	"2884"	"0"	"c.2884A>G"	"r.(?)"	"p.(Met973Val)"	""	""
"0000667710"	"00018515"	"50"	"650"	"0"	"650"	"0"	"c.650C>T"	"r.(?)"	"p.(Thr217Ile)"	""	""
"0000667711"	"00018515"	"50"	"5345"	"0"	"5345"	"0"	"c.5345C>T"	"r.(?)"	"p.(Thr1793Ile)"	""	""
"0000667712"	"00018515"	"50"	"1852"	"0"	"1852"	"0"	"c.1852C>T"	"r.(?)"	"p.(Arg618Cys)"	""	""
"0000673637"	"00023858"	"30"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000673637"	"00018515"	"30"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000673688"	"00023858"	"70"	"949"	"0"	"949"	"0"	"c.949T>C"	"r.(?)"	"p.(Tyr317His)"	""	""
"0000673689"	"00023858"	"70"	"1129"	"0"	"1129"	"0"	"c.1129C>T"	"r.(?)"	"p.(Arg377*)"	""	""
"0000673690"	"00023858"	"90"	"67"	"0"	"67"	"0"	"c.67dup"	"r.(?)"	"p.(Ala23Glyfs*4)"	""	""
"0000673691"	"00023858"	"70"	"3439"	"0"	"3442"	"0"	"c.3439_3442delinsTGCTT"	"r.(?)"	"p.(Glu1147Cysfs*4)"	""	""
"0000673692"	"00023858"	"70"	"3557"	"0"	"3563"	"0"	"c.3557_3563del"	"r.(?)"	"p.(Val1186Aspfs*20)"	""	""
"0000673693"	"00023858"	"90"	"3611"	"0"	"3611"	"0"	"c.3611G>A"	"r.(?)"	"p.(Trp1204*)"	""	""
"0000673694"	"00023858"	"70"	"2636"	"0"	"2636"	"0"	"c.2636T>C"	"r.(?)"	"p.(Leu879Pro)"	""	""
"0000673695"	"00023858"	"70"	"2824"	"0"	"2824"	"0"	"c.2824C>G"	"r.(?)"	"p.(Leu942Val)"	""	""
"0000673696"	"00023858"	"70"	"625"	"0"	"625"	"0"	"c.625dup"	"r.(?)"	"p.(Leu209Profs*68)"	""	""
"0000673697"	"00023858"	"70"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.(?)"	"p.(Gly177Glu)"	""	""
"0000673698"	"00023858"	"90"	"3094"	"0"	"3094"	"0"	"c.3094G>T"	"r.(?)"	"p.(Glu1032*)"	""	""
"0000673699"	"00023858"	"90"	"473"	"1"	"473"	"1"	"c.473+1G>A"	"r.spl"	"p.?"	""	""
"0000673700"	"00023858"	"90"	"5294"	"0"	"5294"	"0"	"c.5294T>C"	"r.(?)"	"p.(Phe1765Ser)"	""	""
"0000673701"	"00023858"	"70"	"5269"	"0"	"5269"	"0"	"c.5269G>A"	"r.(?)"	"p.(Gly1757Arg)"	""	""
"0000673702"	"00023858"	"70"	"602"	"1"	"602"	"1"	"c.602+1G>C"	"r.spl"	"p.?"	""	""
"0000673703"	"00023858"	"50"	"53"	"0"	"55"	"0"	"c.53_55del"	"r.(?)"	"p.(Thr18del)"	""	""
"0000673704"	"00023858"	"70"	"193"	"0"	"193"	"0"	"c.193T>G"	"r.(?)"	"p.(Tyr65Asp)"	""	""
"0000676079"	"00023858"	"90"	"5536"	"0"	"5539"	"0"	"c.5536_5539del"	"r.(?)"	"p.(Lys1846SerfsTer11)"	""	""
"0000676079"	"00018515"	"90"	"5503"	"0"	"5506"	"0"	"c.5503_5506del"	"r.(?)"	"p.(Lys1835SerfsTer11)"	""	""
"0000676080"	"00023858"	"70"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865Gln)"	""	""
"0000676080"	"00018515"	"70"	"2561"	"0"	"2561"	"0"	"c.2561G>A"	"r.(?)"	"p.(Arg854Gln)"	""	""
"0000676081"	"00023858"	"50"	"1612"	"0"	"1612"	"0"	"c.1612A>G"	"r.(?)"	"p.(Ile538Val)"	""	""
"0000676081"	"00018515"	"50"	"1612"	"0"	"1612"	"0"	"c.1612A>G"	"r.(?)"	"p.(Ile538Val)"	""	""
"0000676082"	"00023858"	"90"	"1518"	"0"	"1519"	"0"	"c.1518_1519del"	"r.(?)"	"p.(Lys507ArgfsTer10)"	""	""
"0000676082"	"00018515"	"90"	"1518"	"0"	"1519"	"0"	"c.1518_1519del"	"r.(?)"	"p.(Lys507ArgfsTer10)"	""	""
"0000676083"	"00023858"	"70"	"1258"	"0"	"1258"	"0"	"c.1258G>C"	"r.(?)"	"p.(Ala420Pro)"	""	""
"0000676083"	"00018515"	"70"	"1258"	"0"	"1258"	"0"	"c.1258G>C"	"r.(?)"	"p.(Ala420Pro)"	""	""
"0000676084"	"00023858"	"30"	"495"	"0"	"495"	"0"	"c.495T>C"	"r.(?)"	"p.(Tyr165=)"	""	""
"0000676084"	"00018515"	"30"	"495"	"0"	"495"	"0"	"c.495T>C"	"r.(?)"	"p.(Tyr165=)"	""	""
"0000676085"	"00023858"	"30"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Arg27Thr)"	""	""
"0000676085"	"00018515"	"30"	"80"	"0"	"80"	"0"	"c.80G>C"	"r.(?)"	"p.(Arg27Thr)"	""	""
"0000683574"	"00023858"	"70"	"437"	"0"	"437"	"0"	"c.437C>A"	"r.(?)"	"p.(Thr146Lys)"	""	""
"0000701800"	"00023858"	"70"	"5614"	"0"	"5614"	"0"	"c.5614A>G"	"r.(?)"	"p.(Thr1872Ala)"	"29"	""
"0000701800"	"00018515"	"70"	"5581"	"0"	"5581"	"0"	"c.5581A>G"	"r.(?)"	"p.(Thr1861Ala)"	""	""
"0000701834"	"00023858"	"50"	"5501"	"0"	"5501"	"0"	"c.5501C>T"	"r.(?)"	"p.(Ala1834Val)"	""	""
"0000703989"	"00023858"	"70"	"4495"	"0"	"4495"	"0"	"c.4495T>C"	"r.(?)"	"p.(Phe1499Leu)"	""	""
"0000703989"	"00018515"	"70"	"4462"	"0"	"4462"	"0"	"c.4462T>C"	"r.(?)"	"p.(Phe1488Leu)"	"27"	""
"0000710198"	"00023858"	"90"	"362"	"0"	"362"	"0"	"c.362del"	"r.(?)"	"p.(Ala121Valfs*13)"	""	""
"0000710199"	"00023858"	"90"	"4002"	"1"	"4002"	"1"	"c.4002+1del"	"r.spl"	"p.?"	""	""
"0000711519"	"00023858"	"70"	"5108"	"0"	"5108"	"0"	"c.5108A>G"	"r.(?)"	"p.(Asp1703Gly)"	""	""
"0000711519"	"00018515"	"70"	"5075"	"0"	"5075"	"0"	"c.5075A>G"	"r.(?)"	"p.(Asp1692Gly)"	""	""
"0000717945"	"00023858"	"50"	"5880"	"0"	"5882"	"0"	"c.5880_5882del"	"r.(?)"	"p.(Ile1961del)"	""	""
"0000717945"	"00018515"	"50"	"5847"	"0"	"5849"	"0"	"c.5847_5849del"	"r.(?)"	"p.(Ile1950del)"	""	""
"0000717946"	"00023858"	"90"	"4573"	"0"	"4573"	"0"	"c.4573C>T"	"r.(?)"	"p.(Arg1525Ter)"	""	""
"0000717946"	"00018515"	"90"	"4540"	"0"	"4540"	"0"	"c.4540C>T"	"r.(?)"	"p.(Arg1514Ter)"	""	""
"0000717947"	"00023858"	"30"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000717947"	"00018515"	"30"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000717948"	"00023858"	"30"	"3481"	"0"	"3481"	"0"	"c.3481G>A"	"r.(?)"	"p.(Ala1161Thr)"	""	""
"0000717948"	"00018515"	"30"	"3448"	"0"	"3448"	"0"	"c.3448G>A"	"r.(?)"	"p.(Ala1150Thr)"	""	""
"0000717949"	"00023858"	"50"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	""	""
"0000717949"	"00018515"	"50"	"1679"	"0"	"1679"	"0"	"c.1679G>A"	"r.(?)"	"p.(Arg560His)"	""	""
"0000717950"	"00023858"	"50"	"1201"	"0"	"1201"	"0"	"c.1201A>G"	"r.(?)"	"p.(Ile401Val)"	""	""
"0000717950"	"00018515"	"50"	"1201"	"0"	"1201"	"0"	"c.1201A>G"	"r.(?)"	"p.(Ile401Val)"	""	""
"0000717951"	"00023858"	"90"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393His)"	""	""
"0000717951"	"00018515"	"90"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393His)"	""	""
"0000717952"	"00023858"	"30"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(?)"	"p.(Arg377=)"	""	""
"0000717952"	"00018515"	"30"	"1131"	"0"	"1131"	"0"	"c.1131A>C"	"r.(?)"	"p.(Arg377=)"	""	""
"0000717953"	"00023858"	"50"	"524"	"0"	"524"	"0"	"c.524C>G"	"r.(?)"	"p.(Ala175Gly)"	""	""
"0000717953"	"00018515"	"50"	"524"	"0"	"524"	"0"	"c.524C>G"	"r.(?)"	"p.(Ala175Gly)"	""	""
"0000763818"	"00023858"	"50"	"2803"	"0"	"2803"	"0"	"c.2803A>T"	"r.(?)"	"p.(Asn935Tyr)"	""	""
"0000763818"	"00018515"	"50"	"2770"	"0"	"2770"	"0"	"c.2770A>T"	"r.(?)"	"p.(Asn924Tyr)"	""	""
"0000763829"	"00023858"	"50"	"4179"	"0"	"4179"	"0"	"c.4179T>A"	"r.(?)"	"p.(His1393Gln)"	""	""
"0000763829"	"00018515"	"50"	"4146"	"0"	"4146"	"0"	"c.4146T>A"	"r.(?)"	"p.(His1382Gln)"	""	""
"0000787005"	"00023858"	"70"	"265"	"-1"	"265"	"-1"	"c.265-1G>T"	"r.spl"	"p.?"	"1i"	""
"0000787006"	"00023858"	"90"	"302"	"0"	"302"	"0"	"c.302G>A"	"r.(?)"	"p.(Arg101Gln)"	"2"	""
"0000787007"	"00023858"	"90"	"602"	"1"	"602"	"1"	"c.602+1G>A"	"r.spl"	"p.?"	"4i"	""
"0000787008"	"00023858"	"90"	"602"	"1"	"602"	"1"	"c.602+1G>A"	"r.spl"	"p.?"	"4i"	""
"0000787009"	"00023858"	"90"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(?)"	"p.(Gln319Ter)"	"6"	""
"0000787010"	"00023858"	"70"	"964"	"2"	"964"	"2"	"c.964+2T>G"	"r.spl"	"p.?"	"6i"	""
"0000787011"	"00023858"	"90"	"1284"	"0"	"1284"	"0"	"c.1284del"	"r.(?)"	"p.(Glu428AspfsTer20)"	"9"	""
"0000787012"	"00023858"	"90"	"2589"	"3"	"2589"	"3"	"c.2589+3A>T"	"r.spl"	"p.?"	"14i"	""
"0000787013"	"00023858"	"90"	"2589"	"3"	"2589"	"3"	"c.2589+3A>T"	"r.spl"	"p.?"	"14i"	""
"0000787014"	"00023858"	"70"	"2624"	"0"	"2624"	"0"	"c.2624C>A"	"r.(?)"	"p.(Thr875Lys)"	"15"	""
"0000787015"	"00023858"	"90"	"3733"	"0"	"3733"	"0"	"c.3733C>T"	"r.(?)"	"p.(Arg1245Ter)"	"19"	""
"0000787016"	"00023858"	"90"	"4250"	"0"	"4250"	"0"	"c.4250del"	"r.(?)"	"p.(Asn1417MetfsTer2)"	"21"	""
"0000787017"	"00023858"	"90"	"4338"	"1"	"4338"	"1"	"c.4338+1G>A"	"r.spl"	"p.?"	"22i"	""
"0000787018"	"00023858"	"90"	"4853"	"-1"	"4853"	"-1"	"c.4853-1G>C"	"r.spl"	"p.?"	"25i"	""
"0000787019"	"00023858"	"90"	"4942"	"0"	"4942"	"0"	"c.4942C>T"	"r.(?)"	"p.(Arg1648Cys)"	"26"	""
"0000787107"	"00023858"	"70"	"265"	"-1"	"964"	"1"	"c.(264+1_265-1)_(964+1_965-1)del"	"r.?"	"p.?"	"1i_6i"	""
"0000787169"	"00023858"	"50"	"1145"	"0"	"1145"	"0"	"c.1145A>G"	"r.(?)"	"p.(Asp382Gly)"	"8"	""
"0000787170"	"00023858"	"50"	"2972"	"0"	"2972"	"0"	"c.2972T>G"	"r.(?)"	"p.(Leu991Arg)"	"16"	""
"0000787171"	"00023858"	"50"	"4339"	"0"	"4339"	"0"	"c.4339G>T"	"r.(?)"	"p.(Val1447Leu)"	"23"	""
"0000787376"	"00023858"	"50"	"316"	"0"	"319"	"0"	"c.316_319delinsC"	"r.(?)"	"p.(Ser106_Ala107delinsPro)"	"2"	""
"0000787377"	"00023858"	"50"	"1170"	"5"	"1170"	"5"	"c.1170+5G>A"	"r.spl"	"p.?"	"8i"	""
"0000787378"	"00023858"	"50"	"2972"	"0"	"2972"	"0"	"c.2972T>G"	"r.(?)"	"p.(Leu991Arg)"	"16"	""
"0000787379"	"00023858"	"50"	"3638"	"0"	"3638"	"0"	"c.3638G>A"	"r.(?)"	"p.(Arg1213Gln)"	"18"	""
"0000787380"	"00023858"	"50"	"5030"	"0"	"5030"	"0"	"c.5030T>C"	"r.(?)"	"p.(Leu1677Pro)"	"26"	""
"0000787549"	"00023858"	"50"	"746"	"0"	"746"	"0"	"c.746A>G"	"r.(?)"	"p.(Asp249Gly)"	"6"	""
"0000799771"	"00023858"	"50"	"5620"	"0"	"5620"	"0"	"c.5620C>T"	"r.(?)"	"p.(Arg1874Trp)"	""	""
"0000799771"	"00018515"	"50"	"5587"	"0"	"5587"	"0"	"c.5587C>T"	"r.(?)"	"p.(Arg1863Trp)"	""	""
"0000799772"	"00023858"	"50"	"4855"	"0"	"4855"	"0"	"c.4855A>G"	"r.(?)"	"p.(Met1619Val)"	""	""
"0000799772"	"00018515"	"50"	"4822"	"0"	"4822"	"0"	"c.4822A>G"	"r.(?)"	"p.(Met1608Val)"	""	""
"0000799773"	"00023858"	"70"	"4581"	"5"	"4581"	"5"	"c.4581+5G>A"	"r.spl?"	"p.?"	""	""
"0000799773"	"00018515"	"70"	"4548"	"5"	"4548"	"5"	"c.4548+5G>A"	"r.spl?"	"p.?"	""	""
"0000799774"	"00023858"	"90"	"4024"	"0"	"4024"	"0"	"c.4024G>T"	"r.(?)"	"p.(Gly1342*)"	""	""
"0000799774"	"00018515"	"90"	"3991"	"0"	"3991"	"0"	"c.3991G>T"	"r.(?)"	"p.(Gly1331*)"	""	""
"0000799775"	"00023858"	"30"	"4003"	"-4"	"4003"	"-4"	"c.4003-4T>C"	"r.spl?"	"p.?"	""	""
"0000799775"	"00018515"	"30"	"3970"	"-4"	"3970"	"-4"	"c.3970-4T>C"	"r.spl?"	"p.?"	""	""
"0000799776"	"00023858"	"30"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000799776"	"00018515"	"30"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000799777"	"00023858"	"50"	"3151"	"0"	"3151"	"0"	"c.3151C>T"	"r.(?)"	"p.(Leu1051Phe)"	""	""
"0000799777"	"00018515"	"50"	"3118"	"0"	"3118"	"0"	"c.3118C>T"	"r.(?)"	"p.(Leu1040Phe)"	""	""
"0000799778"	"00023858"	"70"	"2589"	"3"	"2589"	"3"	"c.2589+3A>T"	"r.spl?"	"p.?"	""	""
"0000799778"	"00018515"	"70"	"2556"	"3"	"2556"	"3"	"c.2556+3A>T"	"r.spl?"	"p.?"	""	""
"0000799779"	"00023858"	"50"	"1360"	"0"	"1360"	"0"	"c.1360C>A"	"r.(?)"	"p.(Gln454Lys)"	""	""
"0000799779"	"00018515"	"50"	"1360"	"0"	"1360"	"0"	"c.1360C>A"	"r.(?)"	"p.(Gln454Lys)"	""	""
"0000799780"	"00023858"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000799780"	"00018515"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000799781"	"00023858"	"50"	"286"	"0"	"286"	"0"	"c.286G>C"	"r.(?)"	"p.(Gly96Arg)"	""	""
"0000799781"	"00018515"	"50"	"286"	"0"	"286"	"0"	"c.286G>C"	"r.(?)"	"p.(Gly96Arg)"	""	""
"0000799782"	"00023858"	"30"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ala23Val)"	""	""
"0000799782"	"00018515"	"30"	"68"	"0"	"68"	"0"	"c.68C>T"	"r.(?)"	"p.(Ala23Val)"	""	""
"0000815856"	"00023858"	"70"	"4907"	"0"	"4907"	"0"	"c.4907G>A"	"r.(?)"	"p.(Arg1636Gln)"	""	""
"0000815857"	"00023858"	"70"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Ter)"	""	""
"0000818622"	"00023858"	"90"	"2679"	"0"	"2679"	"0"	"c.2679A>C"	"r.(?)"	"p.(Leu893Phe)"	""	""
"0000818622"	"00018515"	"90"	"2646"	"0"	"2646"	"0"	"c.2646A>C"	"r.(?)"	"p.(Leu882Phe)"	""	""
"0000818623"	"00023858"	"90"	"2965"	"0"	"2965"	"0"	"c.2965G>A"	"r.(?)"	"p.(Ala989Thr)"	""	""
"0000818623"	"00018515"	"90"	"2932"	"0"	"2932"	"0"	"c.2932G>A"	"r.(?)"	"p.(Ala978Thr)"	""	""
"0000818624"	"00023858"	"90"	"707"	"0"	"707"	"0"	"c.707T>C"	"r.(?)"	"p.(Ile236Thr)"	""	""
"0000818624"	"00018515"	"90"	"707"	"0"	"707"	"0"	"c.707T>C"	"r.(?)"	"p.(Ile236Thr)"	""	""
"0000823712"	"00018515"	"50"	"1150"	"0"	"1150"	"0"	"c.1150T>G"	"r.(?)"	"p.(Trp384Gly)"	""	""
"0000828438"	"00023858"	"50"	"4563"	"0"	"4563"	"0"	"c.4563G>C"	"r.(?)"	"p.(Lys1521Asn)"	""	""
"0000837166"	"00018515"	"70"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Arg701*)"	""	""
"0000841175"	"00023858"	"90"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Arg712Ter)"	""	""
"0000849026"	"00023858"	"70"	"5003"	"0"	"5003"	"0"	"c.5003C>T"	"r.(?)"	"p.(Pro1668Leu)"	""	""
"0000849026"	"00018515"	"70"	"4970"	"0"	"4970"	"0"	"c.4970C>T"	"r.(?)"	"p.(Pro1657Leu)"	""	""
"0000849027"	"00023858"	"30"	"4731"	"0"	"4731"	"0"	"c.4731T>C"	"r.(?)"	"p.(Asn1577=)"	""	""
"0000849027"	"00018515"	"30"	"4698"	"0"	"4698"	"0"	"c.4698T>C"	"r.(?)"	"p.(Asn1566=)"	""	""
"0000849028"	"00023858"	"50"	"4541"	"0"	"4541"	"0"	"c.4541T>C"	"r.(?)"	"p.(Leu1514Ser)"	""	""
"0000849028"	"00018515"	"50"	"4508"	"0"	"4508"	"0"	"c.4508T>C"	"r.(?)"	"p.(Leu1503Ser)"	""	""
"0000849029"	"00023858"	"10"	"2177"	"-11"	"2177"	"-11"	"c.2177-11del"	"r.(=)"	"p.(=)"	""	""
"0000849029"	"00018515"	"10"	"2144"	"-11"	"2144"	"-11"	"c.2144-11del"	"r.(=)"	"p.(=)"	""	""
"0000849030"	"00023858"	"50"	"1652"	"0"	"1652"	"0"	"c.1652C>T"	"r.(?)"	"p.(Ser551Phe)"	""	""
"0000849030"	"00018515"	"50"	"1652"	"0"	"1652"	"0"	"c.1652C>T"	"r.(?)"	"p.(Ser551Phe)"	""	""
"0000857821"	"00023858"	"50"	"5605"	"0"	"5605"	"0"	"c.5605T>C"	"r.(?)"	"p.(Phe1869Leu)"	""	""
"0000857821"	"00018515"	"50"	"5572"	"0"	"5572"	"0"	"c.5572T>C"	"r.(?)"	"p.(Phe1858Leu)"	""	""
"0000857822"	"00023858"	"30"	"5418"	"0"	"5418"	"0"	"c.5418G>A"	"r.(?)"	"p.(Glu1806=)"	""	""
"0000857822"	"00018515"	"30"	"5385"	"0"	"5385"	"0"	"c.5385G>A"	"r.(?)"	"p.(Glu1795=)"	""	""
"0000857823"	"00023858"	"50"	"4547"	"0"	"4547"	"0"	"c.4547C>T"	"r.(?)"	"p.(Ser1516Leu)"	""	""
"0000857823"	"00018515"	"50"	"4514"	"0"	"4514"	"0"	"c.4514C>T"	"r.(?)"	"p.(Ser1505Leu)"	""	""
"0000857824"	"00023858"	"30"	"4095"	"0"	"4095"	"0"	"c.4095C>T"	"r.(?)"	"p.(Gly1365=)"	""	""
"0000857824"	"00018515"	"30"	"4062"	"0"	"4062"	"0"	"c.4062C>T"	"r.(?)"	"p.(Gly1354=)"	""	""
"0000857825"	"00023858"	"30"	"3723"	"0"	"3723"	"0"	"c.3723T>C"	"r.(?)"	"p.(Tyr1241=)"	""	""
"0000857825"	"00018515"	"30"	"3690"	"0"	"3690"	"0"	"c.3690T>C"	"r.(?)"	"p.(Tyr1230=)"	""	""
"0000857826"	"00023858"	"30"	"3521"	"0"	"3521"	"0"	"c.3521C>G"	"r.(?)"	"p.(Thr1174Ser)"	""	""
"0000857826"	"00018515"	"30"	"3488"	"0"	"3488"	"0"	"c.3488C>G"	"r.(?)"	"p.(Thr1163Ser)"	""	""
"0000857827"	"00023858"	"30"	"2889"	"0"	"2889"	"0"	"c.2889T>C"	"r.(?)"	"p.(Ala963=)"	""	""
"0000857827"	"00018515"	"30"	"2856"	"0"	"2856"	"0"	"c.2856T>C"	"r.(?)"	"p.(Ala952=)"	""	""
"0000857828"	"00023858"	"10"	"2589"	"17"	"2589"	"19"	"c.2589+17_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000857828"	"00018515"	"10"	"2556"	"17"	"2556"	"19"	"c.2556+17_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000857829"	"00023858"	"10"	"2589"	"18"	"2589"	"19"	"c.2589+18_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000857829"	"00018515"	"10"	"2556"	"18"	"2556"	"19"	"c.2556+18_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000857830"	"00023858"	"30"	"2589"	"19"	"2589"	"19"	"c.2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000857830"	"00018515"	"30"	"2556"	"19"	"2556"	"19"	"c.2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000857831"	"00023858"	"10"	"2177"	"-11"	"2177"	"-11"	"c.2177-11dup"	"r.(=)"	"p.(=)"	""	""
"0000857831"	"00018515"	"10"	"2144"	"-11"	"2144"	"-11"	"c.2144-11dup"	"r.(=)"	"p.(=)"	""	""
"0000857832"	"00023858"	"30"	"2176"	"17"	"2176"	"17"	"c.2176+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000857832"	"00018515"	"30"	"2143"	"17"	"2143"	"17"	"c.2143+17A>G"	"r.(=)"	"p.(=)"	""	""
"0000857833"	"00023858"	"50"	"1370"	"0"	"1370"	"0"	"c.1370C>T"	"r.(?)"	"p.(Ala457Val)"	""	""
"0000857833"	"00018515"	"50"	"1370"	"0"	"1370"	"0"	"c.1370C>T"	"r.(?)"	"p.(Ala457Val)"	""	""
"0000857834"	"00023858"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000857834"	"00018515"	"10"	"1171"	"-10"	"1171"	"-9"	"c.1171-10_1171-9del"	"r.(=)"	"p.(=)"	""	""
"0000857835"	"00023858"	"50"	"1028"	"4"	"1028"	"4"	"c.1028+4A>G"	"r.spl?"	"p.?"	""	""
"0000857835"	"00018515"	"50"	"1028"	"4"	"1028"	"4"	"c.1028+4A>G"	"r.spl?"	"p.?"	""	""
"0000857836"	"00023858"	"10"	"384"	"-20"	"384"	"-20"	"c.384-20G>C"	"r.(=)"	"p.(=)"	""	""
"0000857836"	"00018515"	"10"	"384"	"-20"	"384"	"-20"	"c.384-20G>C"	"r.(=)"	"p.(=)"	""	""
"0000879147"	"00023858"	"50"	"2828"	"0"	"2828"	"0"	"c.2828T>C"	"r.(?)"	"p.(Ile943Thr)"	""	""
"0000883853"	"00023858"	"30"	"5864"	"0"	"5864"	"0"	"c.5864T>C"	"r.(?)"	"p.(Ile1955Thr)"	""	""
"0000883853"	"00018515"	"30"	"5831"	"0"	"5831"	"0"	"c.5831T>C"	"r.(?)"	"p.(Ile1944Thr)"	""	""
"0000883854"	"00023858"	"50"	"5792"	"0"	"5792"	"0"	"c.5792T>C"	"r.(?)"	"p.(Leu1931Ser)"	""	""
"0000883854"	"00018515"	"50"	"5759"	"0"	"5759"	"0"	"c.5759T>C"	"r.(?)"	"p.(Leu1920Ser)"	""	""
"0000883855"	"00023858"	"50"	"5639"	"0"	"5639"	"0"	"c.5639G>A"	"r.(?)"	"p.(Gly1880Glu)"	""	""
"0000883855"	"00018515"	"50"	"5606"	"0"	"5606"	"0"	"c.5606G>A"	"r.(?)"	"p.(Gly1869Glu)"	""	""
"0000883856"	"00023858"	"50"	"5364"	"0"	"5364"	"0"	"c.5364C>A"	"r.(?)"	"p.(Asn1788Lys)"	""	""
"0000883856"	"00018515"	"50"	"5331"	"0"	"5331"	"0"	"c.5331C>A"	"r.(?)"	"p.(Asn1777Lys)"	""	""
"0000883857"	"00023858"	"50"	"5241"	"0"	"5241"	"0"	"c.5241C>A"	"r.(?)"	"p.(Asn1747Lys)"	""	""
"0000883857"	"00018515"	"50"	"5208"	"0"	"5208"	"0"	"c.5208C>A"	"r.(?)"	"p.(Asn1736Lys)"	""	""
"0000883858"	"00023858"	"50"	"4160"	"0"	"4160"	"0"	"c.4160T>C"	"r.(?)"	"p.(Ile1387Thr)"	""	""
"0000883858"	"00018515"	"50"	"4127"	"0"	"4127"	"0"	"c.4127T>C"	"r.(?)"	"p.(Ile1376Thr)"	""	""
"0000883859"	"00023858"	"30"	"3924"	"0"	"3924"	"0"	"c.3924A>T"	"r.(?)"	"p.(Glu1308Asp)"	""	""
"0000883859"	"00018515"	"30"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.(Glu1297Asp)"	""	""
"0000883860"	"00023858"	"90"	"3759"	"0"	"3759"	"0"	"c.3759dup"	"r.(?)"	"p.(Tyr1254Ilefs*3)"	""	""
"0000883860"	"00018515"	"90"	"3726"	"0"	"3726"	"0"	"c.3726dup"	"r.(?)"	"p.(Tyr1243Ilefs*3)"	""	""
"0000883861"	"00023858"	"50"	"3691"	"0"	"3691"	"0"	"c.3691A>T"	"r.(?)"	"p.(Ser1231Cys)"	""	""
"0000883861"	"00018515"	"50"	"3658"	"0"	"3658"	"0"	"c.3658A>T"	"r.(?)"	"p.(Ser1220Cys)"	""	""
"0000883862"	"00023858"	"30"	"3584"	"0"	"3584"	"0"	"c.3584A>G"	"r.(?)"	"p.(Asn1195Ser)"	""	""
"0000883862"	"00018515"	"30"	"3551"	"0"	"3551"	"0"	"c.3551A>G"	"r.(?)"	"p.(Asn1184Ser)"	""	""
"0000883863"	"00023858"	"50"	"2813"	"0"	"2813"	"0"	"c.2813T>A"	"r.(?)"	"p.(Phe938Tyr)"	""	""
"0000883863"	"00018515"	"50"	"2780"	"0"	"2780"	"0"	"c.2780T>A"	"r.(?)"	"p.(Phe927Tyr)"	""	""
"0000883864"	"00023858"	"50"	"2813"	"0"	"2813"	"0"	"c.2813T>A"	"r.(?)"	"p.(Phe938Tyr)"	""	""
"0000883864"	"00018515"	"50"	"2780"	"0"	"2780"	"0"	"c.2780T>A"	"r.(?)"	"p.(Phe927Tyr)"	""	""
"0000883865"	"00023858"	"30"	"2700"	"0"	"2700"	"0"	"c.2700C>T"	"r.(?)"	"p.(Ile900=)"	""	""
"0000883865"	"00018515"	"30"	"2667"	"0"	"2667"	"0"	"c.2667C>T"	"r.(?)"	"p.(Ile889=)"	""	""
"0000883866"	"00023858"	"30"	"2177"	"-11"	"2177"	"-11"	"c.2177-11del"	"r.(=)"	"p.(=)"	""	""
"0000883866"	"00018515"	"30"	"2144"	"-11"	"2144"	"-11"	"c.2144-11del"	"r.(=)"	"p.(=)"	""	""
"0000883868"	"00023858"	"30"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000883868"	"00018515"	"30"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Arg542Gln)"	""	""
"0000883869"	"00023858"	"30"	"1410"	"0"	"1410"	"0"	"c.1410C>T"	"r.(?)"	"p.(Ser470=)"	""	""
"0000883869"	"00018515"	"30"	"1410"	"0"	"1410"	"0"	"c.1410C>T"	"r.(?)"	"p.(Ser470=)"	""	""
"0000883870"	"00023858"	"50"	"1027"	"0"	"1027"	"0"	"c.1027G>A"	"r.(?)"	"p.(Gly343Ser)"	""	""
"0000883870"	"00018515"	"50"	"1027"	"0"	"1027"	"0"	"c.1027G>A"	"r.(?)"	"p.(Gly343Ser)"	""	""
"0000883871"	"00023858"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Ile138Thr)"	""	""
"0000883871"	"00018515"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Ile138Thr)"	""	""
"0000883872"	"00023858"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000883872"	"00018515"	"10"	"345"	"0"	"345"	"0"	"c.345T>C"	"r.(?)"	"p.(Asn115=)"	""	""
"0000883873"	"00023858"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000883873"	"00018515"	"50"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0000883874"	"00023858"	"50"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Pro9Ser)"	""	""
"0000883874"	"00018515"	"50"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Pro9Ser)"	""	""
"0000903130"	"00023858"	"70"	"4002"	"2461"	"4002"	"2461"	"c.4002+2461T>C"	"r.(?)"	"p.(?)"	""	""
"0000908530"	"00023858"	"90"	"474"	"-1"	"474"	"-1"	"c.474-1G>C"	"r.(?)"	"p.?"	""	""
"0000908531"	"00023858"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000908532"	"00023858"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000908533"	"00023858"	"90"	"5693"	"0"	"5693"	"0"	"c.5693del"	"r.(?)"	"p.(Pro1898LeufsTer13)"	""	""
"0000908534"	"00023858"	"70"	"1247"	"0"	"1247"	"0"	"c.1247A>T"	"r.(?)"	"p.(Asn416Ile)"	""	""
"0000908535"	"00023858"	"50"	"135"	"0"	"135"	"0"	"c.135C>R"	"r.(?)"	"p.(Asp45Glu)"	""	""
"0000908536"	"00023858"	"50"	"1499"	"0"	"1499"	"0"	"c.1499G>A"	"r.(?)"	"p.(Arg500Gln)"	""	""
"0000908537"	"00023858"	"50"	"3091"	"0"	"3091"	"0"	"c.3091T>G"	"r.(?)"	"p.(Tyr1031Asp)"	""	""
"0000908558"	"00023858"	"90"	"3824"	"0"	"3824"	"0"	"c.3824G>C"	"r.(?)"	"p.(Gly1275Ala)"	""	""
"0000908558"	"00018515"	"90"	"3791"	"0"	"3791"	"0"	"c.3791G>C"	"r.(?)"	"p.(Gly1264Ala)"	""	""
"0000908561"	"00023858"	"90"	"3580"	"0"	"3580"	"0"	"c.3580del"	"r.(?)"	"p.(Ile1194Serfs*14)"	""	""
"0000908561"	"00018515"	"90"	"3547"	"0"	"3547"	"0"	"c.3547del"	"r.(?)"	"p.(Ile1183Serfs*14)"	""	""
"0000911225"	"00023858"	"70"	"4910"	"0"	"4910"	"0"	"c.4910T>A"	"r.(?)"	"p.(Val1637Glu)"	""	""
"0000911225"	"00018515"	"70"	"4877"	"0"	"4877"	"0"	"c.4877T>A"	"r.(?)"	"p.(Val1626Glu)"	""	""
"0000911226"	"00023858"	"30"	"3880"	"-22"	"3880"	"-20"	"c.3880-22_3880-20del"	"r.(=)"	"p.(=)"	""	""
"0000911226"	"00018515"	"30"	"3847"	"-22"	"3847"	"-20"	"c.3847-22_3847-20del"	"r.(=)"	"p.(=)"	""	""
"0000911227"	"00023858"	"50"	"1604"	"0"	"1604"	"0"	"c.1604G>C"	"r.(?)"	"p.(Arg535Pro)"	""	""
"0000911227"	"00018515"	"50"	"1604"	"0"	"1604"	"0"	"c.1604G>C"	"r.(?)"	"p.(Arg535Pro)"	""	""
"0000911228"	"00023858"	"30"	"384"	"-19"	"384"	"-19"	"c.384-19T>C"	"r.(=)"	"p.(=)"	""	""
"0000911228"	"00018515"	"30"	"384"	"-19"	"384"	"-19"	"c.384-19T>C"	"r.(=)"	"p.(=)"	""	""
"0000911229"	"00023858"	"50"	"230"	"0"	"230"	"0"	"c.230T>G"	"r.(?)"	"p.(Leu77Arg)"	""	""
"0000911229"	"00018515"	"50"	"230"	"0"	"230"	"0"	"c.230T>G"	"r.(?)"	"p.(Leu77Arg)"	""	""
"0000923332"	"00023858"	"10"	"2589"	"16"	"2589"	"19"	"c.2589+16_2589+19del"	"r.(=)"	"p.(=)"	""	""
"0000923332"	"00018515"	"10"	"2556"	"16"	"2556"	"19"	"c.2556+16_2556+19del"	"r.(=)"	"p.(=)"	""	""
"0000923333"	"00023858"	"90"	"2584"	"0"	"2584"	"0"	"c.2584C>T"	"r.(?)"	"p.(Arg862Ter)"	""	""
"0000923333"	"00018515"	"90"	"2551"	"0"	"2551"	"0"	"c.2551C>T"	"r.(?)"	"p.(Arg851Ter)"	""	""
"0000923334"	"00023858"	"50"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377Gln)"	""	""
"0000923334"	"00018515"	"50"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377Gln)"	""	""
"0000923335"	"00023858"	"70"	"547"	"0"	"547"	"0"	"c.547T>C"	"r.(?)"	"p.(Phe183Leu)"	""	""
"0000923335"	"00018515"	"70"	"547"	"0"	"547"	"0"	"c.547T>C"	"r.(?)"	"p.(Phe183Leu)"	""	""
"0000928300"	"00023858"	"50"	"2477"	"0"	"2477"	"0"	"c.2477A>G"	"r.(?)"	"p.(Tyr826Cys)"	""	""
"0000928300"	"00018515"	"50"	"2444"	"0"	"2444"	"0"	"c.2444A>G"	"r.(?)"	"p.(Tyr815Cys)"	""	""
"0000928301"	"00023858"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377Gln)"	""	""
"0000928301"	"00018515"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>A"	"r.(?)"	"p.(Arg377Gln)"	""	""
"0000928302"	"00023858"	"70"	"631"	"0"	"631"	"0"	"c.631A>G"	"r.(?)"	"p.(Asn211Asp)"	""	""
"0000928302"	"00018515"	"70"	"631"	"0"	"631"	"0"	"c.631A>G"	"r.(?)"	"p.(Asn211Asp)"	""	""
"0000931565"	"00023858"	"90"	"2803"	"0"	"2803"	"0"	"c.2803A>T"	"r.(?)"	"p.(Asn935Tyr)"	"18"	""
"0000931565"	"00018515"	"90"	"2770"	"0"	"2770"	"0"	"c.2770A>T"	"r.(?)"	"p.(Asn924Tyr)"	""	""
"0000931566"	"00023858"	"90"	"4179"	"0"	"4179"	"0"	"c.4179T>A"	"r.(?)"	"p.(His1393Gln)"	"24"	""
"0000931566"	"00018515"	"90"	"4146"	"0"	"4146"	"0"	"c.4146T>A"	"r.(?)"	"p.(His1382Gln)"	""	""
"0000935920"	"00023858"	"90"	"2584"	"0"	"2584"	"0"	"c.2584C>T"	"r.(?)"	"p.(Arg862*)"	""	""
"0000935920"	"00018515"	"90"	"2551"	"0"	"2551"	"0"	"c.2551C>T"	"r.(?)"	"p.(Arg851*)"	""	""
"0000935932"	"00023858"	"90"	"3637"	"0"	"3637"	"0"	"c.3637C>T"	"r.(?)"	"p.(Arg1213*)"	""	""
"0000935932"	"00018515"	"90"	"3604"	"0"	"3604"	"0"	"c.3604C>T"	"r.(?)"	"p.(Arg1202*)"	""	""
"0000935960"	"00023858"	"70"	"4310"	"0"	"4310"	"0"	"c.4310T>C"	"r.(?)"	"p.(Ile1437Thr)"	""	""
"0000935960"	"00018515"	"70"	"4277"	"0"	"4277"	"0"	"c.4277T>C"	"r.(?)"	"p.(Ile1426Thr)"	""	""
"0000935966"	"00023858"	"90"	"1690"	"0"	"1690"	"0"	"c.1690dup"	"r.(?)"	"p.(Ser565Phefs*6)"	""	""
"0000935966"	"00018515"	"90"	"1690"	"0"	"1690"	"0"	"c.1690dup"	"r.(?)"	"p.(Ser565Phefs*6)"	""	""
"0000935982"	"00023858"	"90"	"3986"	"0"	"3986"	"0"	"c.3986G>T"	"r.(?)"	"p.(Arg1329Leu)"	""	""
"0000935982"	"00018515"	"90"	"3953"	"0"	"3953"	"0"	"c.3953G>T"	"r.(?)"	"p.(Arg1318Leu)"	""	""
"0000935995"	"00023858"	"90"	"3982"	"0"	"3982"	"0"	"c.3982T>C"	"r.(?)"	"p.(Ser1328Pro)"	""	""
"0000935995"	"00018515"	"90"	"3949"	"0"	"3949"	"0"	"c.3949T>C"	"r.(?)"	"p.(Ser1317Pro)"	""	""
"0000936208"	"00023858"	"90"	"1006"	"0"	"1006"	"0"	"c.1006T>G"	"r.(?)"	"p.(Cys336Gly)"	""	""
"0000936208"	"00018515"	"90"	"1006"	"0"	"1006"	"0"	"c.1006T>G"	"r.(?)"	"p.(Cys336Gly)"	""	""
"0000936217"	"00023858"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222*)"	""	""
"0000936217"	"00018515"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222*)"	""	""
"0000936242"	"00023858"	"90"	"2946"	"1"	"2946"	"1"	"c.2946+1G>T"	"r.spl?"	"p.?"	""	""
"0000936242"	"00018515"	"90"	"2913"	"1"	"2913"	"1"	"c.2913+1G>T"	"r.spl?"	"p.?"	""	""
"0000936304"	"00023858"	"70"	"5318"	"0"	"5318"	"0"	"c.5318C>A"	"r.(?)"	"p.(Ser1773Tyr)"	""	""
"0000936304"	"00018515"	"70"	"5285"	"0"	"5285"	"0"	"c.5285C>A"	"r.(?)"	"p.(Ser1762Tyr)"	""	""
"0000936334"	"00023858"	"70"	"2713"	"0"	"2713"	"0"	"c.2713G>C"	"r.(?)"	"p.(Ala905Pro)"	""	""
"0000936334"	"00018515"	"70"	"2680"	"0"	"2680"	"0"	"c.2680G>C"	"r.(?)"	"p.(Ala894Pro)"	""	""
"0000936355"	"00023858"	"90"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Arg712*)"	""	""
"0000936355"	"00018515"	"90"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Arg701*)"	""	""
"0000945965"	"00023858"	"50"	"1327"	"0"	"1327"	"0"	"c.1327G>A"	"r.(?)"	"p.(Glu443Lys)"	""	""
"0000947392"	"00023858"	"90"	"4554"	"0"	"4554"	"0"	"c.4554dup"	"r.(?)"	"p.(Pro1519Thrfs*18)"	""	""
"0000947392"	"00018515"	"90"	"4521"	"0"	"4521"	"0"	"c.4521dup"	"r.(?)"	"p.(Pro1508Thrfs*18)"	""	""
"0000947393"	"00023858"	"30"	"2177"	"-4"	"2177"	"-4"	"c.2177-4C>G"	"r.spl?"	"p.?"	""	""
"0000947393"	"00018515"	"30"	"2144"	"-4"	"2144"	"-4"	"c.2144-4C>G"	"r.spl?"	"p.?"	""	""
"0000947394"	"00023858"	"50"	"2135"	"0"	"2135"	"0"	"c.2135G>A"	"r.(?)"	"p.(Arg712Gln)"	""	""
"0000947394"	"00018515"	"50"	"2102"	"0"	"2102"	"0"	"c.2102G>A"	"r.(?)"	"p.(Arg701Gln)"	""	""
"0000947395"	"00023858"	"50"	"1313"	"0"	"1313"	"0"	"c.1313A>G"	"r.(?)"	"p.(Glu438Gly)"	""	""
"0000947395"	"00018515"	"50"	"1313"	"0"	"1313"	"0"	"c.1313A>G"	"r.(?)"	"p.(Glu438Gly)"	""	""
"0000952169"	"00023858"	"70"	"4179"	"0"	"4179"	"0"	"c.4179T>A"	"r.(?)"	"p.(His1393Gln)"	""	""
"0000952169"	"00018515"	"70"	"4146"	"0"	"4146"	"0"	"c.4146T>A"	"r.(?)"	"p.(His1382Gln)"	""	""
"0000952170"	"00023858"	"90"	"2803"	"0"	"2803"	"0"	"c.2803A>T"	"r.(?)"	"p.(Asn935Tyr)"	""	""
"0000952170"	"00018515"	"90"	"2770"	"0"	"2770"	"0"	"c.2770A>T"	"r.(?)"	"p.(Asn924Tyr)"	""	""
"0000959654"	"00023858"	"70"	"5225"	"0"	"5225"	"0"	"c.5225A>G"	"r.(?)"	"p.(Asp1742Gly)"	"29"	""
"0000959654"	"00018515"	"70"	"5192"	"0"	"5192"	"0"	"c.5192A>G"	"r.(?)"	"p.(Asp1731Gly)"	""	""
"0000959734"	"00023858"	"70"	"4736"	"0"	"4736"	"0"	"c.4736T>C"	"r.(?)"	"p.(Leu1590Pro)"	""	""
"0000961403"	"00023858"	"70"	"2868"	"0"	"2868"	"0"	"c.2868G>A"	"r.(?)"	"p.(Met956Ile)"	""	""
"0000961403"	"00018515"	"70"	"2835"	"0"	"2835"	"0"	"c.2835G>A"	"r.(?)"	"p.(Met945Ile)"	""	""
"0000961404"	"00023858"	"50"	"2276"	"0"	"2276"	"0"	"c.2276A>G"	"r.(?)"	"p.(His759Arg)"	""	""
"0000961404"	"00018515"	"50"	"2243"	"0"	"2243"	"0"	"c.2243A>G"	"r.(?)"	"p.(His748Arg)"	""	""
"0000961405"	"00023858"	"90"	"2077"	"0"	"2077"	"0"	"c.2077del"	"r.(?)"	"p.(Arg693Glyfs*12)"	""	""
"0000961405"	"00018515"	"90"	"2044"	"0"	"2044"	"0"	"c.2044del"	"r.(?)"	"p.(Arg682Glyfs*12)"	""	""
"0000961409"	"00023858"	"70"	"971"	"0"	"971"	"0"	"c.971A>C"	"r.(?)"	"p.(His324Pro)"	""	""
"0000961409"	"00018515"	"70"	"971"	"0"	"971"	"0"	"c.971A>C"	"r.(?)"	"p.(His324Pro)"	""	""
"0000961410"	"00023858"	"90"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Gly271Asp)"	""	""
"0000961410"	"00018515"	"90"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Gly271Asp)"	""	""
"0000972233"	"00023858"	"70"	"2722"	"0"	"2722"	"0"	"c.2722G>A"	"r.(?)"	"p.(Gly908Ser)"	""	""
"0000972235"	"00023858"	"70"	"2722"	"0"	"2722"	"0"	"c.2722G>A"	"r.(?)"	"p.(Gly908Ser)"	""	""
"0000974416"	"00023858"	"50"	"5917"	"0"	"5917"	"0"	"c.5917dup"	"r.(?)"	"p.(Thr1973Asnfs*2)"	""	""
"0000974416"	"00018515"	"50"	"5884"	"0"	"5884"	"0"	"c.5884dup"	"r.(?)"	"p.(Thr1962Asnfs*2)"	""	""
"0000974417"	"00023858"	"70"	"3986"	"0"	"3986"	"0"	"c.3986G>A"	"r.(?)"	"p.(Arg1329Gln)"	""	""
"0000974417"	"00018515"	"70"	"3953"	"0"	"3953"	"0"	"c.3953G>A"	"r.(?)"	"p.(Arg1318Gln)"	""	""
"0000974418"	"00023858"	"90"	"3734"	"0"	"3734"	"0"	"c.3734G>A"	"r.(?)"	"p.(Arg1245Gln)"	""	""
"0000974418"	"00018515"	"90"	"3701"	"0"	"3701"	"0"	"c.3701G>A"	"r.(?)"	"p.(Arg1234Gln)"	""	""
"0000974419"	"00023858"	"50"	"3618"	"0"	"3618"	"0"	"c.3618C>G"	"r.(?)"	"p.(Asn1206Lys)"	""	""
"0000974419"	"00018515"	"50"	"3585"	"0"	"3585"	"0"	"c.3585C>G"	"r.(?)"	"p.(Asn1195Lys)"	""	""
"0000974420"	"00023858"	"50"	"3475"	"0"	"3475"	"0"	"c.3475A>G"	"r.(?)"	"p.(Ile1159Val)"	""	""
"0000974420"	"00018515"	"50"	"3442"	"0"	"3442"	"0"	"c.3442A>G"	"r.(?)"	"p.(Ile1148Val)"	""	""
"0000974421"	"00023858"	"90"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Arg712Ter)"	""	""
"0000974421"	"00018515"	"90"	"2101"	"0"	"2101"	"0"	"c.2101C>T"	"r.(?)"	"p.(Arg701Ter)"	""	""
"0000974422"	"00023858"	"50"	"1744"	"0"	"1744"	"0"	"c.1744A>G"	"r.(?)"	"p.(Lys582Glu)"	""	""
"0000974422"	"00018515"	"50"	"1744"	"0"	"1744"	"0"	"c.1744A>G"	"r.(?)"	"p.(Lys582Glu)"	""	""
"0000974423"	"00023858"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000974423"	"00018515"	"30"	"694"	"10"	"694"	"10"	"c.694+10A>G"	"r.(=)"	"p.(=)"	""	""
"0000991764"	"00023858"	"30"	"5991"	"0"	"5991"	"0"	"c.5991T>G"	"r.(?)"	"p.(His1997Gln)"	""	""
"0000991764"	"00018515"	"30"	"5958"	"0"	"5958"	"0"	"c.5958T>G"	"r.(?)"	"p.(His1986Gln)"	""	""
"0000991765"	"00023858"	"50"	"5364"	"0"	"5364"	"0"	"c.5364C>A"	"r.(?)"	"p.(Asn1788Lys)"	""	""
"0000991765"	"00018515"	"50"	"5331"	"0"	"5331"	"0"	"c.5331C>A"	"r.(?)"	"p.(Asn1777Lys)"	""	""
"0000991766"	"00023858"	"90"	"5339"	"0"	"5339"	"0"	"c.5339T>C"	"r.(?)"	"p.(Met1780Thr)"	""	""
"0000991766"	"00018515"	"90"	"5306"	"0"	"5306"	"0"	"c.5306T>C"	"r.(?)"	"p.(Met1769Thr)"	""	""
"0000991767"	"00023858"	"30"	"4855"	"0"	"4855"	"0"	"c.4855A>G"	"r.(?)"	"p.(Met1619Val)"	""	""
"0000991767"	"00018515"	"30"	"4822"	"0"	"4822"	"0"	"c.4822A>G"	"r.(?)"	"p.(Met1608Val)"	""	""
"0000991768"	"00023858"	"30"	"3899"	"0"	"3899"	"0"	"c.3899C>T"	"r.(?)"	"p.(Thr1300Ile)"	""	""
"0000991768"	"00018515"	"30"	"3866"	"0"	"3866"	"0"	"c.3866C>T"	"r.(?)"	"p.(Thr1289Ile)"	""	""
"0000991769"	"00023858"	"30"	"3502"	"0"	"3502"	"0"	"c.3502G>A"	"r.(?)"	"p.(Val1168Ile)"	""	""
"0000991769"	"00018515"	"30"	"3469"	"0"	"3469"	"0"	"c.3469G>A"	"r.(?)"	"p.(Val1157Ile)"	""	""
"0000991770"	"00023858"	"30"	"3248"	"0"	"3248"	"0"	"c.3248C>T"	"r.(?)"	"p.(Thr1083Ile)"	""	""
"0000991770"	"00018515"	"30"	"3215"	"0"	"3215"	"0"	"c.3215C>T"	"r.(?)"	"p.(Thr1072Ile)"	""	""
"0000991771"	"00023858"	"50"	"3053"	"0"	"3053"	"0"	"c.3053G>A"	"r.(?)"	"p.(Arg1018Lys)"	""	""
"0000991771"	"00018515"	"50"	"3020"	"0"	"3020"	"0"	"c.3020G>A"	"r.(?)"	"p.(Arg1007Lys)"	""	""
"0000991772"	"00023858"	"50"	"2828"	"0"	"2828"	"0"	"c.2828T>C"	"r.(?)"	"p.(Ile943Thr)"	""	""
"0000991772"	"00018515"	"50"	"2795"	"0"	"2795"	"0"	"c.2795T>C"	"r.(?)"	"p.(Ile932Thr)"	""	""
"0000991773"	"00023858"	"30"	"2437"	"0"	"2437"	"0"	"c.2437G>A"	"r.(?)"	"p.(Ala813Thr)"	""	""
"0000991773"	"00018515"	"30"	"2404"	"0"	"2404"	"0"	"c.2404G>A"	"r.(?)"	"p.(Ala802Thr)"	""	""
"0000991774"	"00023858"	"50"	"2306"	"0"	"2306"	"0"	"c.2306T>C"	"r.(?)"	"p.(Phe769Ser)"	""	""
"0000991774"	"00018515"	"50"	"2273"	"0"	"2273"	"0"	"c.2273T>C"	"r.(?)"	"p.(Phe758Ser)"	""	""
"0000991775"	"00023858"	"50"	"2156"	"0"	"2156"	"0"	"c.2156T>A"	"r.(?)"	"p.(Ile719Asn)"	""	""
"0000991775"	"00018515"	"50"	"2123"	"0"	"2123"	"0"	"c.2123T>A"	"r.(?)"	"p.(Ile708Asn)"	""	""
"0000991776"	"00023858"	"30"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Glu705Lys)"	""	""
"0000991776"	"00018515"	"30"	"2080"	"0"	"2080"	"0"	"c.2080G>A"	"r.(?)"	"p.(Glu694Lys)"	""	""
"0000991777"	"00023858"	"50"	"2006"	"0"	"2006"	"0"	"c.2006C>T"	"r.(?)"	"p.(Pro669Leu)"	""	""
"0000991777"	"00018515"	"50"	"2006"	"0"	"2006"	"0"	"c.2006C>T"	"r.(?)"	"p.(Pro669Leu)"	""	""
"0000991778"	"00023858"	"30"	"688"	"0"	"688"	"0"	"c.688A>G"	"r.(?)"	"p.(Ile230Val)"	""	""
"0000991778"	"00018515"	"30"	"688"	"0"	"688"	"0"	"c.688A>G"	"r.(?)"	"p.(Ile230Val)"	""	""
"0000991779"	"00023858"	"50"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Arg222Gln)"	""	""
"0000991779"	"00018515"	"50"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Arg222Gln)"	""	""
"0000991780"	"00023858"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222Ter)"	""	""
"0000991780"	"00018515"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222Ter)"	""	""
"0000991781"	"00023858"	"30"	"602"	"6"	"602"	"7"	"c.602+6_602+7dup"	"r.(=)"	"p.(=)"	""	""
"0000991781"	"00018515"	"30"	"602"	"6"	"602"	"7"	"c.602+6_602+7dup"	"r.(=)"	"p.(=)"	""	""
"0000991782"	"00023858"	"50"	"83"	"0"	"83"	"0"	"c.83G>A"	"r.(?)"	"p.(Arg28His)"	""	""
"0000991782"	"00018515"	"50"	"83"	"0"	"83"	"0"	"c.83G>A"	"r.(?)"	"p.(Arg28His)"	""	""
"0001011935"	"00023858"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Met)"	""	""
"0001011938"	"00023858"	"90"	"5180"	"0"	"5180"	"0"	"c.5180A>G"	"r.(?)"	"p.(Asp1727Gly)"	""	""
"0001011948"	"00023858"	"90"	"5347"	"0"	"5347"	"0"	"c.5347G>A"	"r.(?)"	"p.(Ala1783Thr)"	""	""
"0001011980"	"00023858"	"90"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.(?)"	"p.(Arg393His)"	""	""
"0001013399"	"00023858"	"50"	"5662"	"0"	"5662"	"0"	"c.5662C>G"	"r.(?)"	"p.(Gln1888Glu)"	""	""
"0001013399"	"00018515"	"50"	"5629"	"0"	"5629"	"0"	"c.5629C>G"	"r.(?)"	"p.(Gln1877Glu)"	""	""
"0001013400"	"00023858"	"50"	"4834"	"0"	"4834"	"0"	"c.4834G>A"	"r.(?)"	"p.(Val1612Ile)"	""	""
"0001013400"	"00018515"	"50"	"4801"	"0"	"4801"	"0"	"c.4801G>A"	"r.(?)"	"p.(Val1601Ile)"	""	""
"0001013401"	"00023858"	"70"	"4414"	"0"	"4414"	"0"	"c.4414T>A"	"r.(?)"	"p.(Phe1472Ile)"	""	""
"0001013401"	"00018515"	"70"	"4381"	"0"	"4381"	"0"	"c.4381T>A"	"r.(?)"	"p.(Phe1461Ile)"	""	""
"0001013402"	"00023858"	"90"	"2791"	"0"	"2791"	"0"	"c.2791C>T"	"r.(?)"	"p.(Arg931Cys)"	""	""
"0001013402"	"00018515"	"90"	"2758"	"0"	"2758"	"0"	"c.2758C>T"	"r.(?)"	"p.(Arg920Cys)"	""	""
"0001019159"	"00023858"	"70"	"2404"	"0"	"2415"	"2"	"c.2404_2415+2del"	"r.spl"	"p.?"	"16_16i"	""
"0001024252"	"00023858"	"90"	"4786"	"0"	"4786"	"0"	"c.4786C>T"	"r.(?)"	"p.(Arg1596Cys)"	""	""
"0001024252"	"00018515"	"90"	"4753"	"0"	"4753"	"0"	"c.4753C>T"	"r.(?)"	"p.(Arg1585Cys)"	""	""
"0001024253"	"00023858"	"30"	"4731"	"0"	"4731"	"0"	"c.4731T>C"	"r.(?)"	"p.(Asn1577=)"	""	""
"0001024253"	"00018515"	"30"	"4698"	"0"	"4698"	"0"	"c.4698T>C"	"r.(?)"	"p.(Asn1566=)"	""	""
"0001024254"	"00023858"	"70"	"4676"	"0"	"4676"	"0"	"c.4676T>C"	"r.(?)"	"p.(Met1559Thr)"	""	""
"0001024254"	"00018515"	"70"	"4643"	"0"	"4643"	"0"	"c.4643T>C"	"r.(?)"	"p.(Met1548Thr)"	""	""
"0001024255"	"00023858"	"70"	"1663"	"-2"	"1663"	"-2"	"c.1663-2A>C"	"r.spl?"	"p.?"	""	""
"0001024255"	"00018515"	"70"	"1663"	"-2"	"1663"	"-2"	"c.1663-2A>C"	"r.spl?"	"p.?"	""	""
"0001032475"	"00023858"	"90"	"5165"	"0"	"5165"	"0"	"c.5165C>A"	"r.(?)"	"p.(Thr1722Asn)"	""	""
"0001032475"	"00018515"	"90"	"5132"	"0"	"5132"	"0"	"c.5132C>A"	"r.(?)"	"p.(Thr1711Asn)"	""	""
"0001032476"	"00023858"	"50"	"4736"	"0"	"4736"	"0"	"c.4736T>C"	"r.(?)"	"p.(Val1579Ala)"	""	""
"0001032476"	"00018515"	"50"	"4703"	"0"	"4703"	"0"	"c.4703T>C"	"r.(?)"	"p.(Val1568Ala)"	""	""
"0001032477"	"00023858"	"30"	"4548"	"0"	"4548"	"0"	"c.4548G>A"	"r.(?)"	"p.(=)"	""	""
"0001032477"	"00018515"	"30"	"4515"	"0"	"4515"	"0"	"c.4515G>A"	"r.(?)"	"p.(=)"	""	""
"0001032478"	"00023858"	"50"	"4522"	"0"	"4522"	"0"	"c.4522T>C"	"r.(?)"	"p.(Tyr1508His)"	""	""
"0001032478"	"00018515"	"50"	"4489"	"0"	"4489"	"0"	"c.4489T>C"	"r.(?)"	"p.(Tyr1497His)"	""	""
"0001032479"	"00023858"	"30"	"3714"	"0"	"3714"	"0"	"c.3714A>C"	"r.(?)"	"p.(Glu1238Asp)"	""	""
"0001032479"	"00018515"	"30"	"3681"	"0"	"3681"	"0"	"c.3681A>C"	"r.(?)"	"p.(Glu1227Asp)"	""	""
"0001032480"	"00023858"	"50"	"3589"	"0"	"3589"	"0"	"c.3589G>C"	"r.(?)"	"p.(Glu1197Gln)"	""	""
"0001032480"	"00018515"	"50"	"3556"	"0"	"3556"	"0"	"c.3556G>C"	"r.(?)"	"p.(Glu1186Gln)"	""	""
"0001032481"	"00023858"	"30"	"3166"	"0"	"3166"	"0"	"c.3166A>G"	"r.(?)"	"p.(Asn1056Asp)"	""	""
"0001032481"	"00018515"	"30"	"3133"	"0"	"3133"	"0"	"c.3133A>G"	"r.(?)"	"p.(Asn1045Asp)"	""	""
"0001032482"	"00023858"	"30"	"-71506"	"0"	"-71506"	"0"	"c.-71506G>A"	"r.(?)"	"p.(=)"	""	""
"0001032482"	"00018515"	"30"	"-71506"	"0"	"-71506"	"0"	"c.-71506G>A"	"r.(?)"	"p.(=)"	""	""
"0001045492"	"00023858"	"90"	"2415"	"0"	"2415"	"0"	"c.2415G>A"	"r.[spl,2177_2415del]"	"p.[Phe807Serfs*35,Glu726Glyfs*31]"	"16"	""
"0001045718"	"00023858"	"50"	"1199"	"0"	"1199"	"0"	"c.1199T>C"	"r.(?)"	"p.(Met400Thr)"	""	""
"0001045718"	"00018515"	"50"	"1199"	"0"	"1199"	"0"	"c.1199T>C"	"r.(?)"	"p.(Met400Thr)"	""	""
"0001050860"	"00023858"	"30"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""
"0001050860"	"00018515"	"30"	"32"	"0"	"32"	"0"	"c.32C>A"	"r.(?)"	"p.(Pro11His)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 332
"{{screeningid}}"	"{{variantid}}"
"0000016249"	"0000035988"
"0000016252"	"0000035995"
"0000036853"	"0000063978"
"0000036854"	"0000063979"
"0000036855"	"0000063980"
"0000036856"	"0000063981"
"0000036857"	"0000063982"
"0000036858"	"0000063983"
"0000036859"	"0000063984"
"0000036860"	"0000063985"
"0000036861"	"0000063986"
"0000036862"	"0000063987"
"0000036863"	"0000063988"
"0000036864"	"0000063989"
"0000036865"	"0000063990"
"0000036866"	"0000063991"
"0000036867"	"0000063992"
"0000036868"	"0000063993"
"0000036869"	"0000063994"
"0000036870"	"0000063995"
"0000036871"	"0000063996"
"0000036872"	"0000063997"
"0000036873"	"0000063998"
"0000036874"	"0000063999"
"0000036875"	"0000064000"
"0000036876"	"0000064001"
"0000036877"	"0000064002"
"0000036878"	"0000064003"
"0000036879"	"0000064004"
"0000036880"	"0000064005"
"0000036881"	"0000064006"
"0000036882"	"0000064007"
"0000036883"	"0000064008"
"0000036884"	"0000064009"
"0000036885"	"0000064010"
"0000036886"	"0000064011"
"0000036887"	"0000064012"
"0000036888"	"0000064013"
"0000036889"	"0000064014"
"0000036890"	"0000064015"
"0000036891"	"0000064016"
"0000036892"	"0000064017"
"0000036893"	"0000064018"
"0000036894"	"0000064019"
"0000036895"	"0000064020"
"0000036896"	"0000064021"
"0000036897"	"0000064022"
"0000036898"	"0000064023"
"0000036899"	"0000064024"
"0000036900"	"0000064025"
"0000036901"	"0000064026"
"0000036902"	"0000064027"
"0000036903"	"0000064028"
"0000036904"	"0000064029"
"0000036905"	"0000064030"
"0000036906"	"0000064031"
"0000036907"	"0000064032"
"0000036908"	"0000064033"
"0000036909"	"0000064034"
"0000036910"	"0000064035"
"0000036911"	"0000064036"
"0000036912"	"0000064037"
"0000036913"	"0000064038"
"0000036914"	"0000064039"
"0000036915"	"0000064040"
"0000036916"	"0000064041"
"0000036917"	"0000064042"
"0000036918"	"0000064043"
"0000036919"	"0000064044"
"0000036920"	"0000064045"
"0000036921"	"0000064046"
"0000036922"	"0000064047"
"0000036923"	"0000064048"
"0000036924"	"0000064049"
"0000036925"	"0000064050"
"0000036926"	"0000064051"
"0000036927"	"0000064052"
"0000036928"	"0000064053"
"0000036929"	"0000064054"
"0000036930"	"0000064055"
"0000036931"	"0000064056"
"0000036932"	"0000064057"
"0000036933"	"0000064058"
"0000036934"	"0000064059"
"0000036935"	"0000064060"
"0000036936"	"0000064061"
"0000036937"	"0000064062"
"0000036938"	"0000064063"
"0000036939"	"0000064064"
"0000036940"	"0000064065"
"0000036941"	"0000064066"
"0000036942"	"0000064067"
"0000036943"	"0000064068"
"0000036944"	"0000064069"
"0000036945"	"0000064070"
"0000036946"	"0000064071"
"0000036947"	"0000064072"
"0000036948"	"0000064073"
"0000036949"	"0000064074"
"0000036950"	"0000064075"
"0000036951"	"0000064076"
"0000036952"	"0000064077"
"0000036953"	"0000064078"
"0000036954"	"0000064079"
"0000036955"	"0000064080"
"0000036956"	"0000064081"
"0000036957"	"0000064082"
"0000036958"	"0000064083"
"0000036959"	"0000064084"
"0000036960"	"0000064085"
"0000036961"	"0000064086"
"0000050418"	"0000079398"
"0000050652"	"0000079632"
"0000080974"	"0000130060"
"0000117285"	"0000188130"
"0000117354"	"0000188463"
"0000117410"	"0000188255"
"0000117422"	"0000188483"
"0000117506"	"0000188336"
"0000117528"	"0000188366"
"0000117573"	"0000188544"
"0000166125"	"0000370557"
"0000166126"	"0000370558"
"0000166127"	"0000370559"
"0000166128"	"0000370560"
"0000166129"	"0000370561"
"0000166130"	"0000370562"
"0000166131"	"0000370563"
"0000166132"	"0000370564"
"0000166133"	"0000370565"
"0000166134"	"0000370566"
"0000166135"	"0000370567"
"0000166136"	"0000370568"
"0000166137"	"0000370569"
"0000166138"	"0000370570"
"0000166139"	"0000370571"
"0000166140"	"0000370572"
"0000166141"	"0000370573"
"0000166142"	"0000370574"
"0000166143"	"0000370575"
"0000166144"	"0000370576"
"0000166145"	"0000370577"
"0000166146"	"0000370578"
"0000166147"	"0000370579"
"0000166148"	"0000370580"
"0000166149"	"0000370581"
"0000166150"	"0000370582"
"0000166151"	"0000370583"
"0000166152"	"0000370584"
"0000166153"	"0000370585"
"0000166154"	"0000370586"
"0000166155"	"0000370587"
"0000166156"	"0000370588"
"0000166157"	"0000370589"
"0000166158"	"0000370590"
"0000166159"	"0000370591"
"0000166160"	"0000370592"
"0000166161"	"0000370593"
"0000166162"	"0000370594"
"0000166163"	"0000370595"
"0000166164"	"0000370596"
"0000166165"	"0000370597"
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